#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_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_tumor_sample
CCNL2	81669	broad.mit.edu	37	1	1325663	1325663	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:1325663C>T	ENST00000400809.3	-	8	958	c.953G>A	c.(952-954)gGg>gAg	p.G318E	CCNL2_ENST00000505849.1_5'UTR|CCNL2_ENST00000408952.5_Missense_Mutation_p.G96E	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN	cyclin L2	318					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		CTGTGTGCCCCCAGGCAACAG	0.572																																						uc001afi.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(952-954)GGG>GAG		cyclin L2 isoform A							82.0	89.0	87.0					1																	1325663		2203	4296	6499	SO:0001583	missense	81669				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding	g.chr1:1325663C>T	AF251294	CCDS30557.1, CCDS30558.1	1p36.33	2014-07-03			ENSG00000221978	ENSG00000221978			20570	protein-coding gene	gene with protein product	"""cyclin S"""	613482	"""cyclin M"""	CCNM		14725631	Standard	NM_030937		Approved	ania-6b, PCEE, SB138, HLA-ISO, CCNS	uc001afi.2	Q96S94	OTTHUMG00000002917	ENST00000400809.3:c.953G>A	1.37:g.1325663C>T	ENSP00000383611:p.Gly318Glu					CCNL2_uc010nym.1_RNA|CCNL2_uc001aff.1_Missense_Mutation_p.G96E|CCNL2_uc001afg.1_Missense_Mutation_p.G96E|CCNL2_uc001afh.2_3'UTR|CCNL2_uc001afj.2_3'UTR|CCNL2_uc001afk.2_3'UTR	p.G318E	NM_030937	NP_112199	Q96S94	CCNL2_HUMAN		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)	8	985	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	318					A8K8A3|B1B152|Q5T2N5|Q5T2N6|Q6IQ12|Q7Z4Z8|Q8N3C9|Q8N3D5|Q8NHE3|Q8TEL0|Q96B00	Missense_Mutation	SNP	ENST00000400809.3	37	c.953G>A	CCDS30557.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.095|4.095	0.015578|0.015578	0.07959|0.07959	.|.	.|.	ENSG00000221978|ENSG00000221978	ENST00000400809|ENST00000408952	T|.	0.28895|.	1.59|.	5.13|5.13	0.641|0.641	0.17759|0.17759	.|.	0.480105|.	0.20363|.	N|.	0.093813|.	T|.	0.17195|.	0.0413|.	N|N	0.17082|0.17082	0.46|0.46	0.09310|0.09310	N|N	1|1	B|.	0.09022|.	0.002|.	B|.	0.04013|.	0.001|.	T|.	0.29549|.	-1.0008|.	10|.	0.02654|0.07990	T|T	1|0.79	.|.	6.5132|6.5132	0.22234|0.22234	0.0:0.2488:0.603:0.1482|0.0:0.2488:0.603:0.1482	.|.	318|.	Q96S94|.	CCNL2_HUMAN|.	E|X	318|94	ENSP00000383611:G318E|.	ENSP00000383611:G318E|ENSP00000386132:W94X	G|W	-|-	2|3	0|0	CCNL2|CCNL2	1315526|1315526	0.124000|0.124000	0.22315|0.22315	0.000000|0.000000	0.03702|0.03702	0.003000|0.003000	0.03518|0.03518	2.768000|2.768000	0.47645|0.47645	0.276000|0.276000	0.22118|0.22118	0.650000|0.650000	0.86243|0.86243	GGG|TGG		0.572	CCNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008146.2		NM_030937		22	119	0	0	0	1	0	22	119		
PLCH2	9651	broad.mit.edu	37	1	2435841	2435841	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:2435841C>G	ENST00000419816.2	+	22	3714	c.3440C>G	c.(3439-3441)tCc>tGc	p.S1147C	PLCH2_ENST00000378486.3_Missense_Mutation_p.S1147C|PLCH2_ENST00000378488.3_Missense_Mutation_p.S1111C|PLCH2_ENST00000449969.1_3'UTR			O75038	PLCH2_HUMAN	phospholipase C, eta 2	1147					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phosphatidylinositol metabolic process (GO:0046488)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		TCCTCCTCCTCCAGCATGTCA	0.662																																						uc001aji.1		NaN																	0				central_nervous_system(3)|ovary(1)|skin(1)	5						c.(3439-3441)TCC>TGC		phospholipase C, eta 2							39.0	42.0	41.0					1																	2435841		2186	4275	6461	SO:0001583	missense	9651				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr1:2435841C>G	AB007919	CCDS59959.1	1p36.32	2013-01-10	2006-03-16	2006-03-16	ENSG00000149527	ENSG00000149527	3.1.4.11	"""EF-hand domain containing"""	29037	protein-coding gene	gene with protein product		612836	"""phospholipase C-like 4"""	PLCL4		15899900	Standard	XM_006711054		Approved	KIAA0450, PLCeta2, RP3-395M20.1, PLC-eta2	uc001aji.1	O75038	OTTHUMG00000000719	ENST00000419816.2:c.3440C>G	1.37:g.2435841C>G	ENSP00000389803:p.Ser1147Cys					PLCH2_uc010nyz.1_3'UTR|PLCH2_uc009vle.1_Missense_Mutation_p.S899C|PLCH2_uc001ajj.1_3'UTR|PLCH2_uc001ajk.1_3'UTR|PLCH2_uc001ajl.1_5'UTR	p.S1147C	NM_014638	NP_055453	O75038	PLCH2_HUMAN		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)	22	3714	+	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)	1147					A2VCM3|B9DI80|Q3LUA8|Q86XJ2|Q86XU1|Q86YU7|Q8TEH5|Q8WUS6	Missense_Mutation	SNP	ENST00000419816.2	37	c.3440C>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.44|14.44	2.536279|2.536279	0.45176|0.45176	.|.	.|.	ENSG00000149527|ENSG00000149527	ENST00000419816|ENST00000378486;ENST00000378488;ENST00000278878	.|T;T	.|0.39056	.|1.31;1.1	4.62|4.62	3.69|3.69	0.42338|0.42338	.|.	.|683.188000	.|0.00508	.|U	.|0.000170	T|T	0.61324|0.61324	0.2338|0.2338	L|L	0.36672|0.36672	1.1|1.1	0.80722|0.80722	D|D	1|1	.|D;B	.|0.89917	.|1.0;0.049	.|D;B	.|0.83275	.|0.996;0.018	T|T	0.27020|0.27020	-1.0086|-1.0086	5|10	.|0.87932	.|D	.|0	.|.	13.6479|13.6479	0.62292|0.62292	0.0:0.8433:0.1567:0.0|0.0:0.8433:0.1567:0.0	.|.	.|899;1147	.|B9DI82;O75038	.|.;PLCH2_HUMAN	A|C	442|1147;1111;899	.|ENSP00000367747:S1147C;ENSP00000367749:S1111C	.|ENSP00000278878:S899C	P|S	+|+	1|2	0|0	PLCH2|PLCH2	2425701|2425701	1.000000|1.000000	0.71417|0.71417	0.948000|0.948000	0.38648|0.38648	0.147000|0.147000	0.21601|0.21601	4.340000|4.340000	0.59328|0.59328	0.907000|0.907000	0.36646|0.36646	0.462000|0.462000	0.41574|0.41574	CCA|TCC		0.662	PLCH2-009	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467514.1		NM_014638		8	41	0	0	0	1	0	8	41		
MMEL1	79258	broad.mit.edu	37	1	2541195	2541195	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:2541195C>T	ENST00000378412.3	-	5	529	c.368G>A	c.(367-369)tGg>tAg	p.W123*	MMEL1_ENST00000288709.6_Nonsense_Mutation_p.W114*|MMEL1_ENST00000502556.1_Nonsense_Mutation_p.W123*			Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	123						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)		GCGCCGCAGCCAGCCTCCGCA	0.607																																						uc001ajy.2		NaN																	0					0						c.(367-369)TGG>TAG		membrane metallo-endopeptidase-like 1							100.0	78.0	85.0					1																	2541195		2203	4300	6503	SO:0001587	stop_gained	79258				proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity	g.chr1:2541195C>T	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.368G>A	1.37:g.2541195C>T	ENSP00000367668:p.Trp123*					MMEL1_uc009vlg.1_RNA	p.W123*	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)	5	582	-	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)	123			Lumenal (Potential).		B9DI79|Q495T7|Q495T8|Q5SZS6|Q96PH9	Nonsense_Mutation	SNP	ENST00000378412.3	37	c.368G>A	CCDS30569.2	.	.	.	.	.	.	.	.	.	.	c	36	5.912298	0.97099	.	.	ENSG00000142606	ENST00000378411;ENST00000288709;ENST00000378412;ENST00000502556	.	.	.	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.5728	17.8954	0.88886	0.0:1.0:0.0:0.0	.	.	.	.	X	123;114;123;123	.	ENSP00000288709:W114X	W	-	2	0	MMEL1	2531055	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	5.925000	0.70062	2.452000	0.82932	0.555000	0.69702	TGG		0.607	MMEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002395.2		NM_033467		18	59	0	0	0	1	0	18	59		
CEP104	9731	broad.mit.edu	37	1	3756216	3756216	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:3756216C>G	ENST00000378230.3	-	7	1015	c.691G>C	c.(691-693)Gat>Cat	p.D231H	CEP104_ENST00000460038.1_5'Flank	NM_014704.3	NP_055519.1	O60308	CE104_HUMAN	centrosomal protein 104kDa	231						centriole (GO:0005814)	glutamate binding (GO:0016595)|glycine binding (GO:0016594)|thienylcyclohexylpiperidine binding (GO:0016596)			breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						TTGGCATAATCATAGCGTTCC	0.358																																						uc001aky.2		NaN																	0					0						c.(691-693)GAT>CAT		glycine-, glutamate-,							190.0	183.0	186.0					1																	3756216		2203	4300	6503	SO:0001583	missense	9731					centriole	binding	g.chr1:3756216C>G	AB011134	CCDS30571.1	1p36.32	2014-02-20	2011-05-06	2011-05-06	ENSG00000116198	ENSG00000116198			24866	protein-coding gene	gene with protein product	"""glycine, glutamate, thienylcyclohexylpiperidine binding protein"""		"""KIAA0562"""	KIAA0562		7488117, 21399614	Standard	NM_014704		Approved	GlyBP, RP1-286D6.4	uc001aky.2	O60308	OTTHUMG00000003507	ENST00000378230.3:c.691G>C	1.37:g.3756216C>G	ENSP00000367476:p.Asp231His					KIAA0562_uc010nzm.1_RNA|KIAA0562_uc001akz.2_Missense_Mutation_p.D231H	p.D231H	NM_014704	NP_055519	O60308	CE104_HUMAN		Epithelial(90;6.85e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.59e-22)|GBM - Glioblastoma multiforme(42;3.16e-16)|Colorectal(212;2.01e-05)|COAD - Colon adenocarcinoma(227;7.99e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000389)|Kidney(185;0.000513)|STAD - Stomach adenocarcinoma(132;0.00709)|KIRC - Kidney renal clear cell carcinoma(229;0.00714)|Lung(427;0.137)	7	1050	-	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_epithelial(116;3.96e-21)|all_lung(118;2.74e-08)|Lung NSC(185;6.4e-06)|Breast(487;0.00066)|Renal(390;0.00121)|Hepatocellular(190;0.00335)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.031)|Lung SC(97;0.0548)|Medulloblastoma(700;0.212)	231			Potential.		Q5JSQ3|Q5SR24|Q5SR25|Q6PKF5|Q86W32|Q86X14	Missense_Mutation	SNP	ENST00000378230.3	37	c.691G>C	CCDS30571.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.007436	0.75046	.	.	ENSG00000116198	ENST00000378230;ENST00000428079	T	0.37411	1.2	4.97	4.97	0.65823	.	0.049988	0.85682	D	0.000000	T	0.65995	0.2745	M	0.86420	2.815	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.994;0.999	T	0.72010	-0.4419	10	0.54805	T	0.06	.	17.204	0.86913	0.0:1.0:0.0:0.0	.	231;231	O60308-3;O60308	.;CE104_HUMAN	H	231;173	ENSP00000367476:D231H	ENSP00000367476:D231H	D	-	1	0	CEP104	3746076	1.000000	0.71417	0.807000	0.32361	0.989000	0.77384	5.549000	0.67261	2.298000	0.77334	0.491000	0.48974	GAT		0.358	CEP104-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009747.3		NM_014704		84	39	0	0	0	1	0	84	39		
NOL9	79707	broad.mit.edu	37	1	6585981	6585981	+	Missense_Mutation	SNP	C	C	G	rs537450957		TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:6585981C>G	ENST00000377705.5	-	12	2074	c.2042G>C	c.(2041-2043)aGa>aCa	p.R681T		NM_024654.4	NP_078930	Q5SY16	NOL9_HUMAN	nucleolar protein 9	681					maturation of 5.8S rRNA (GO:0000460)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|polynucleotide 5'-hydroxyl-kinase activity (GO:0051731)|RNA binding (GO:0003723)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(2)|urinary_tract(1)	19	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649)		CTCAGGTTCTCTTGCTCCAAT	0.423																																						uc001ans.2		NaN																	0				skin(1)	1						c.(2041-2043)AGA>ACA		nucleolar protein 9							168.0	165.0	166.0					1																	6585981		2203	4300	6503	SO:0001583	missense	79707				maturation of 5.8S rRNA	nucleolus	ATP binding|polynucleotide 5'-hydroxyl-kinase activity|RNA binding	g.chr1:6585981C>G	AK091284	CCDS80.1	1p36.31	2012-05-02			ENSG00000162408	ENSG00000162408			26265	protein-coding gene	gene with protein product	"""polynucleotide 5'-kinase"""					21063389	Standard	NM_024654		Approved	FLJ23323, NET6, Grc3	uc001ans.3	Q5SY16	OTTHUMG00000000904	ENST00000377705.5:c.2042G>C	1.37:g.6585981C>G	ENSP00000366934:p.Arg681Thr					NOL9_uc010nzs.1_RNA	p.R681T	NM_024654	NP_078930	Q5SY16	NOL9_HUMAN		Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649)	12	2061	-	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)	681					Q2NL84|Q4VBY3|Q6P472|Q7L4D6|Q96EE0|Q9H5L4	Missense_Mutation	SNP	ENST00000377705.5	37	c.2042G>C	CCDS80.1	.	.	.	.	.	.	.	.	.	.	C	18.36	3.606182	0.66445	.	.	ENSG00000162408	ENST00000377705	T	0.23754	1.89	4.77	4.77	0.60923	.	0.071226	0.53938	D	0.000048	T	0.36908	0.0984	L	0.27053	0.805	0.43819	D	0.996389	D	0.89917	1.0	D	0.83275	0.996	T	0.14200	-1.0481	10	0.62326	D	0.03	-26.2491	13.1511	0.59490	0.0:1.0:0.0:0.0	.	681	Q5SY16	NOL9_HUMAN	T	681	ENSP00000366934:R681T	ENSP00000366934:R681T	R	-	2	0	NOL9	6508568	0.999000	0.42202	0.995000	0.50966	0.365000	0.29674	2.121000	0.41977	2.483000	0.83821	0.655000	0.94253	AGA		0.423	NOL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002625.1		NM_024654		40	128	0	0	0	1	0	40	128		
PIK3CD	5293	broad.mit.edu	37	1	9782153	9782153	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:9782153G>C	ENST00000377346.4	+	17	2371	c.2176G>C	c.(2176-2178)Gag>Cag	p.E726Q	PIK3CD_ENST00000543390.1_3'UTR|PIK3CD_ENST00000361110.2_Missense_Mutation_p.E750Q|PIK3CD_ENST00000536656.1_Missense_Mutation_p.E750Q	NM_005026.3	NP_005017.3	O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	726					adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|B cell chemotaxis (GO:0035754)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|cytokine production (GO:0001816)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell chemotaxis (GO:0002551)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|natural killer cell activation (GO:0030101)|natural killer cell chemotaxis (GO:0035747)|natural killer cell differentiation (GO:0001779)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|respiratory burst involved in defense response (GO:0002679)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|mast cell granule (GO:0042629)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	Caffeine(DB00201)	GGCCTACCTAGAGGCCCTCTC	0.637											OREG0013082	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001aqb.3		NaN																	0				lung(4)|skin(2)|central_nervous_system(1)	7						c.(2176-2178)GAG>CAG		catalytic phosphatidylinositol 3-kinase delta							53.0	56.0	55.0					1																	9782153		2203	4300	6503	SO:0001583	missense	5293				phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr1:9782153G>C		CCDS104.1	1p36.2	2014-09-17	2012-07-13		ENSG00000171608	ENSG00000171608	2.7.1.153		8977	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase, catalytic, delta polypeptide"", ""phosphoinositide-3-kinase C"""	602839	"""phosphoinositide-3-kinase, catalytic, delta polypeptide"""			9113989, 9455486	Standard	NM_005026		Approved	p110D	uc001aqb.4	O00329	OTTHUMG00000001450	ENST00000377346.4:c.2176G>C	1.37:g.9782153G>C	ENSP00000366563:p.Glu726Gln		OREG0013082	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	659	PIK3CD_uc010oaf.1_Missense_Mutation_p.E725Q|PIK3CD_uc001aqe.3_Missense_Mutation_p.E750Q	p.E726Q	NM_005026	NP_005017	O00329	PK3CD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	17	2384	+	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	726					A6NCG0|G1FFP1|O15445|Q5SR49	Missense_Mutation	SNP	ENST00000377346.4	37	c.2176G>C	CCDS104.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.384601	0.82792	.	.	ENSG00000171608	ENST00000536656;ENST00000377346;ENST00000361110;ENST00000360563	T;T;T	0.81247	-1.47;-1.47;-1.47	5.4	5.4	0.78164	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	D	0.87289	0.6140	M	0.73598	2.24	0.80722	D	1	P;P;D	0.60160	0.938;0.705;0.987	P;B;P	0.55615	0.596;0.329;0.78	D	0.88322	0.2963	10	0.59425	D	0.04	-43.8873	18.1775	0.89766	0.0:0.0:1.0:0.0	.	725;750;726	B7ZM44;Q5SR50;O00329	.;.;PK3CD_HUMAN	Q	750;726;750;750	ENSP00000446444:E750Q;ENSP00000366563:E726Q;ENSP00000354410:E750Q	ENSP00000353766:E750Q	E	+	1	0	PIK3CD	9704740	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.714000	0.98744	2.527000	0.85204	0.561000	0.74099	GAG		0.637	PIK3CD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004235.1		NM_005026		15	39	0	0	0	1	0	15	39		
VPS13D	55187	broad.mit.edu	37	1	12364770	12364770	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:12364770G>C	ENST00000358136.3	+	26	6554	c.6424G>C	c.(6424-6426)Gag>Cag	p.E2142Q	VPS13D_ENST00000356315.4_Missense_Mutation_p.E2142Q	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TGTTGGCCAAGAGTCCAGTAG	0.522																																						uc001atv.2		NaN																	0				ovary(4)|pancreas(1)	5						c.(6424-6426)GAG>CAG		vacuolar protein sorting 13D isoform 1							64.0	62.0	63.0					1																	12364770		2203	4300	6503	SO:0001583	missense	55187				protein localization			g.chr1:12364770G>C	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.6424G>C	1.37:g.12364770G>C	ENSP00000350854:p.Glu2142Gln					VPS13D_uc001atw.2_Missense_Mutation_p.E2142Q|VPS13D_uc001atx.2_Missense_Mutation_p.E1330Q	p.E2142Q	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	26	6565	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	2142						Missense_Mutation	SNP	ENST00000358136.3	37	c.6424G>C	CCDS30588.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.354|0.354	-0.943244|-0.943244	0.02322|0.02322	.|.	.|.	ENSG00000048707|ENSG00000048707	ENST00000356315;ENST00000358136|ENST00000011700	T;T|.	0.52526|.	0.66;0.66|.	6.08|6.08	1.01|1.01	0.19927|0.19927	.|.	1.232460|.	0.05349|.	N|.	0.531581|.	T|T	0.15349|0.15349	0.0370|0.0370	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B;B|.	0.06786|.	0.0;0.001|.	B;B|.	0.01281|.	0.0;0.0|.	T|T	0.26189|0.26189	-1.0110|-1.0110	10|5	0.13108|.	T|.	0.6|.	.|.	4.4066|4.4066	0.11413|0.11413	0.4122:0.161:0.4269:0.0|0.4122:0.161:0.4269:0.0	.|.	2142;2142|.	Q5THJ4-2;Q5THJ4|.	.;VP13D_HUMAN|.	Q|N	2142|964	ENSP00000348666:E2142Q;ENSP00000350854:E2142Q|.	ENSP00000348666:E2142Q|.	E|K	+|+	1|3	0|2	VPS13D|VPS13D	12287357|12287357	0.003000|0.003000	0.15002|0.15002	0.000000|0.000000	0.03702|0.03702	0.088000|0.088000	0.18126|0.18126	0.735000|0.735000	0.26115|0.26115	0.146000|0.146000	0.19002|0.19002	0.655000|0.655000	0.94253|0.94253	GAG|AAG		0.522	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2		NM_015378		39	14	0	0	0	1	0	39	14		
SPEN	23013	broad.mit.edu	37	1	16260296	16260296	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:16260296G>A	ENST00000375759.3	+	11	7765	c.7561G>A	c.(7561-7563)Gac>Aac	p.D2521N		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2521	RID.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TCTTCCCCCAGACACAAAGGC	0.562																																						uc001axk.1		NaN																	0				ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						c.(7561-7563)GAC>AAC		spen homolog, transcriptional regulator							159.0	164.0	162.0					1																	16260296		2203	4300	6503	SO:0001583	missense	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16260296G>A		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.7561G>A	1.37:g.16260296G>A	ENSP00000364912:p.Asp2521Asn					SPEN_uc010obp.1_Missense_Mutation_p.D2480N	p.D2521N	NM_015001	NP_055816	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	11	7765	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	2521			RID.		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	c.7561G>A	CCDS164.1	.	.	.	.	.	.	.	.	.	.	G	16.83	3.230722	0.58777	.	.	ENSG00000065526	ENST00000375759	T	0.16457	2.34	5.16	5.16	0.70880	.	.	.	.	.	T	0.14270	0.0345	L	0.39020	1.185	0.50039	D	0.999846	P	0.42409	0.779	B	0.37480	0.251	T	0.01904	-1.1250	9	0.56958	D	0.05	-22.4307	12.0612	0.53564	0.0793:0.0:0.9207:0.0	.	2521	Q96T58	MINT_HUMAN	N	2521	ENSP00000364912:D2521N	ENSP00000364912:D2521N	D	+	1	0	SPEN	16132883	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.590000	0.82653	2.418000	0.82041	0.561000	0.74099	GAC		0.562	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1		NM_015001		70	205	0	0	0	1	0	70	205		
SPEN	23013	broad.mit.edu	37	1	16262749	16262749	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:16262749G>A	ENST00000375759.3	+	11	10218	c.10014G>A	c.(10012-10014)aaG>aaA	p.K3338K		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	3338	Pro-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CCCGGACCAAGACAGCTGCTC	0.592																																						uc001axk.1		NaN																	0				ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						c.(10012-10014)AAG>AAA		spen homolog, transcriptional regulator							44.0	45.0	45.0					1																	16262749		2199	4293	6492	SO:0001819	synonymous_variant	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16262749G>A		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.10014G>A	1.37:g.16262749G>A						SPEN_uc010obp.1_Silent_p.K3297K	p.K3338K	NM_015001	NP_055816	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	11	10218	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	3338			Pro-rich.		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Silent	SNP	ENST00000375759.3	37	c.10014G>A	CCDS164.1																																																																																				0.592	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1		NM_015001		29	31	0	0	0	1	0	29	31		
NECAP2	55707	broad.mit.edu	37	1	16767292	16767292	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:16767292C>T	ENST00000337132.5	+	1	126	c.36C>T	c.(34-36)gtC>gtT	p.V12V	NECAP2_ENST00000457722.2_Intron|NECAP2_ENST00000486390.1_3'UTR|NECAP2_ENST00000504551.2_Silent_p.V12V|NECAP2_ENST00000443980.2_Silent_p.V12V|NECAP2_ENST00000406746.1_Silent_p.V12V	NM_001145278.1|NM_018090.4	NP_001138750.1|NP_060560.1	Q9NVZ3	NECP2_HUMAN	NECAP endocytosis associated 2	12					endocytosis (GO:0006897)|protein transport (GO:0015031)	clathrin vesicle coat (GO:0030125)|coated pit (GO:0005905)|intracellular (GO:0005622)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|Kidney(64;0.000181)|KIRC - Kidney renal clear cell carcinoma(64;0.00268)|STAD - Stomach adenocarcinoma(196;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		TGCTCTGTGTCAAGCCTGACG	0.627											OREG0013136	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001ayo.2		NaN																	0					0						c.(34-36)GTC>GTT		NECAP endocytosis associated 2 isoform 1							139.0	110.0	120.0					1																	16767292		2203	4300	6503	SO:0001819	synonymous_variant	55707				endocytosis|protein transport	clathrin vesicle coat|coated pit|plasma membrane		g.chr1:16767292C>T	AK021938	CCDS173.1, CCDS44066.1, CCDS44067.1	1p36.13	2008-02-05			ENSG00000157191	ENSG00000157191			25528	protein-coding gene	gene with protein product		611624				14555962, 15494011	Standard	NM_001145277		Approved	FLJ10420	uc001ayq.3	Q9NVZ3	OTTHUMG00000002313	ENST00000337132.5:c.36C>T	1.37:g.16767292C>T			OREG0013136	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	712	NECAP2_uc001ayp.3_RNA|NECAP2_uc010ocd.1_Intron|NECAP2_uc001ayq.2_Silent_p.V12V	p.V12V	NM_018090	NP_060560	Q9NVZ3	NECP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|Kidney(64;0.000181)|KIRC - Kidney renal clear cell carcinoma(64;0.00268)|STAD - Stomach adenocarcinoma(196;0.012)|READ - Rectum adenocarcinoma(331;0.0649)	1	126	+		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	12					B4DY19|E9PGQ8|Q5VSU4|Q5VSU5|Q9H7L1|Q9H8L1	Silent	SNP	ENST00000337132.5	37	c.36C>T	CCDS173.1																																																																																				0.627	NECAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006680.2		NM_018090		11	49	0	0	0	1	0	11	49		
PADI6	353238	broad.mit.edu	37	1	17699682	17699682	+	RNA	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:17699682C>A	ENST00000434762.2	+	0	298							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						cytoplasm organization (GO:0007028)|cytoskeleton organization (GO:0007010)|protein citrullination (GO:0018101)|regulation of translation by machinery localization (GO:0043143)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	CCCACGTACGCCACAGTGAAG	0.597																																						uc001bak.1		NaN																	0				breast(1)	1						c.(247-249)GCC>GAC		peptidylarginine deiminase type 6	L-Citrulline(DB00155)						57.0	59.0	58.0					1																	17699682		2150	4254	6404			353238				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity	g.chr1:17699682C>A	AY422079	CCDS72715.1	1p36.13	2014-07-10			ENSG00000256049	ENSG00000276747	3.5.3.15	"""Peptidyl arginine deiminases"""	20449	protein-coding gene	gene with protein product		610363				15087120	Standard	NM_207421		Approved		uc001bak.1	Q6TGC4	OTTHUMG00000002372		1.37:g.17699682C>A							p.A83D	NM_207421	NP_997304	Q6TGC4	PADI6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	2	248	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	75					Q330K5|Q70SX3	Missense_Mutation	SNP	ENST00000434762.2	37	c.248C>A																																																																																					0.597	PADI6-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000006804.4		NM_207421		17	18	1	0	3.45872e-05	1	3.56746e-05	17	18		
ARHGEF10L	55160	broad.mit.edu	37	1	18021748	18021748	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:18021748C>T	ENST00000361221.3	+	28	3439	c.3280C>T	c.(3280-3282)Cgg>Tgg	p.R1094W	ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.R867W|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.R1055W|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.R797W|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.R1055W	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	1094						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		GCCCGTGCCTCGGCTGGAAGG	0.647																																						uc001ban.2		NaN																	0				large_intestine(1)|ovary(1)|pancreas(1)	3						c.(3280-3282)CGG>TGG		Rho guanine nucleotide exchange factor (GEF)							67.0	59.0	62.0					1																	18021748		2203	4300	6503	SO:0001583	missense	55160				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr1:18021748C>T	AB046846	CCDS182.1, CCDS30617.1	1p36.13	2011-11-16			ENSG00000074964	ENSG00000074964		"""Rho guanine nucleotide exchange factors"""	25540	protein-coding gene	gene with protein product	"""GrinchGEF"""	612494				10997877, 16112081	Standard	XM_005245923		Approved	FLJ10521, KIAA1626	uc001ban.3	Q9HCE6	OTTHUMG00000002514	ENST00000361221.3:c.3280C>T	1.37:g.18021748C>T	ENSP00000355060:p.Arg1094Trp					ARHGEF10L_uc001bao.2_Missense_Mutation_p.R1055W|ARHGEF10L_uc001bap.2_Missense_Mutation_p.R1050W|ARHGEF10L_uc001baq.2_Missense_Mutation_p.R855W|ARHGEF10L_uc010ocs.1_Missense_Mutation_p.R867W|ARHGEF10L_uc001bar.2_Missense_Mutation_p.R797W|ARHGEF10L_uc009vpf.2_RNA|ARHGEF10L_uc001bas.2_Missense_Mutation_p.R118W	p.R1094W	NM_018125	NP_060595	Q9HCE6	ARGAL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)	28	3439	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	1094					B7ZKS1|Q17RW1|Q3YFJ4|Q5VXI5|Q5VXI6|Q66K51|Q6P0L7|Q8NAV5|Q9NVT3	Missense_Mutation	SNP	ENST00000361221.3	37	c.3280C>T	CCDS182.1	.	.	.	.	.	.	.	.	.	.	C	17.75	3.466154	0.63625	.	.	ENSG00000074964	ENST00000361221;ENST00000452522;ENST00000375415;ENST00000375408;ENST00000457829;ENST00000167825	T;T;T;T;T	0.36520	1.25;1.25;1.25;1.25;1.25	5.0	5.0	0.66597	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.226344	0.37906	N	0.001894	T	0.59032	0.2164	M	0.77103	2.36	0.41129	D	0.985879	D;D;D;D;D;D;D	0.76494	0.999;0.998;0.999;0.999;0.999;0.997;0.997	D;P;P;D;D;P;P	0.72075	0.976;0.711;0.888;0.976;0.964;0.844;0.702	T	0.63703	-0.6577	10	0.87932	D	0	-29.8612	12.1557	0.54074	0.1711:0.8289:0.0:0.0	.	867;867;797;855;1050;1055;1094	Q5VXI4;B4DTL3;Q9HCE6-4;B3KX74;Q9HCE6-3;Q9HCE6-2;Q9HCE6	.;.;.;.;.;.;ARGAL_HUMAN	W	1094;1055;1055;867;867;797	ENSP00000355060:R1094W;ENSP00000399401:R1055W;ENSP00000364564:R1055W;ENSP00000364557:R867W;ENSP00000167825:R797W	ENSP00000167825:R797W	R	+	1	2	ARHGEF10L	17894335	0.774000	0.28592	1.000000	0.80357	0.526000	0.34562	3.122000	0.50446	2.574000	0.86865	0.655000	0.94253	CGG		0.647	ARHGEF10L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007147.1		NM_018125		13	49	0	0	0	1	0	13	49		
UBR4	23352	broad.mit.edu	37	1	19436596	19436596	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:19436596C>A	ENST00000375254.3	-	81	12126	c.12099G>T	c.(12097-12099)aaG>aaT	p.K4033N	UBR4_ENST00000375226.2_Missense_Mutation_p.K4009N|UBR4_ENST00000375217.2_Missense_Mutation_p.K4026N|UBR4_ENST00000375267.2_Missense_Mutation_p.K4033N	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	4033					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GTACCTTGTTCTTCTTGCTAG	0.542																																						uc001bbi.2		NaN																	0				kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25						c.(12097-12099)AAG>AAT		retinoblastoma-associated factor 600							84.0	85.0	85.0					1																	19436596		2203	4300	6503	SO:0001583	missense	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19436596C>A	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.12099G>T	1.37:g.19436596C>A	ENSP00000364403:p.Lys4033Asn						p.K4033N	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	81	12103	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	4033					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	c.12099G>T	CCDS189.1	.	.	.	.	.	.	.	.	.	.	C	11.97	1.796774	0.31777	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226	T;T;T;T	0.25912	1.77;1.77;1.8;1.8	6.08	2.82	0.32997	.	0.000000	0.85682	D	0.000000	T	0.16981	0.0408	L	0.36672	1.1	0.80722	D	1	P	0.37781	0.608	B	0.37943	0.261	T	0.04242	-1.0966	10	0.33940	T	0.23	.	4.5999	0.12348	0.1776:0.5909:0.0:0.2315	.	4033	Q5T4S7	UBR4_HUMAN	N	4033;4033;4026;4009	ENSP00000364403:K4033N;ENSP00000364416:K4033N;ENSP00000364365:K4026N;ENSP00000364374:K4009N	ENSP00000364365:K4026N	K	-	3	2	UBR4	19309183	1.000000	0.71417	1.000000	0.80357	0.537000	0.34900	0.800000	0.27042	0.872000	0.35775	0.655000	0.94253	AAG		0.542	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1		NM_020765		31	87	1	0	1.61788e-16	1	1.78652e-16	31	87		
CELA3B	23436	broad.mit.edu	37	1	22303559	22303559	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:22303559C>T	ENST00000337107.6	+	1	46	c.27C>T	c.(25-27)ctC>ctT	p.L9L	RN7SL421P_ENST00000582599.1_RNA	NM_007352.2	NP_031378.1	P08861	CEL3B_HUMAN	chymotrypsin-like elastase family, member 3B	9					cholesterol metabolic process (GO:0008203)|proteolysis (GO:0006508)		peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			breast(2)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						TCAGTTCCCTCCTCCTTGTGG	0.527																																						uc001bfk.2		NaN																	0				ovary(1)	1						c.(25-27)CTC>CTT		elastase 3B, pancreatic preproprotein							233.0	225.0	228.0					1																	22303559		2203	4300	6503	SO:0001819	synonymous_variant	23436				cholesterol metabolic process|proteolysis	extracellular region	serine-type endopeptidase activity	g.chr1:22303559C>T	M18692	CCDS219.1	1p36.12	2009-05-05	2009-05-05	2009-05-05	ENSG00000219073	ENSG00000219073	3.4.21.70		15945	protein-coding gene	gene with protein product	"""proteinase E"", ""elastase 1"", ""cholesterol-binding pancreatic protease"", ""pancreatic endopeptidase E"""		"""elastase 3B, pancreatic"""	ELA3B		2826474, 2460440	Standard	NM_007352		Approved	CBPP	uc001bfk.3	P08861	OTTHUMG00000002758	ENST00000337107.6:c.27C>T	1.37:g.22303559C>T						CELA3B_uc009vqf.2_Silent_p.L8L	p.L9L	NM_007352	NP_031378	P08861	CEL3B_HUMAN			1	142	+			9					B2RE44|P11423|Q5VU28|Q5VU29|Q5VU30	Silent	SNP	ENST00000337107.6	37	c.27C>T	CCDS219.1																																																																																				0.527	CELA3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007797.1		NM_007352		59	196	0	0	0	1	0	59	196		
ZBTB40	9923	broad.mit.edu	37	1	22852749	22852749	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:22852749G>C	ENST00000375647.4	+	18	3787	c.3580G>C	c.(3580-3582)Gag>Cag	p.E1194Q	ZBTB40_ENST00000374651.4_Missense_Mutation_p.E1082Q|ZBTB40_ENST00000404138.1_Missense_Mutation_p.E1194Q	NM_014870.3	NP_055685.3	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	1194					bone mineralization (GO:0030282)|cellular response to DNA damage stimulus (GO:0006974)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		CACTTTGGAGGAGACCCAGCT	0.587																																						uc001bft.2		NaN																	0				ovary(1)	1						c.(3580-3582)GAG>CAG		zinc finger and BTB domain containing 40							105.0	102.0	103.0					1																	22852749		2203	4300	6503	SO:0001583	missense	9923				bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:22852749G>C	AB007947	CCDS224.1	1p36	2013-01-08			ENSG00000184677	ENSG00000184677		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	29045	protein-coding gene	gene with protein product		612106					Standard	NM_014870		Approved	KIAA0478, ZNF923	uc001bfu.2	Q9NUA8	OTTHUMG00000002897	ENST00000375647.4:c.3580G>C	1.37:g.22852749G>C	ENSP00000364798:p.Glu1194Gln					ZBTB40_uc001bfu.2_Missense_Mutation_p.E1194Q|ZBTB40_uc009vqi.1_Missense_Mutation_p.E1082Q	p.E1194Q	NM_001083621	NP_001077090	Q9NUA8	ZBT40_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)	19	4091	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	1194					O75066|Q5TFU5|Q8N1R1	Missense_Mutation	SNP	ENST00000375647.4	37	c.3580G>C	CCDS224.1	.	.	.	.	.	.	.	.	.	.	G	18.26	3.584978	0.66105	.	.	ENSG00000184677	ENST00000404138;ENST00000375647;ENST00000374651	T;T;T	0.07908	3.15;3.15;3.15	5.7	5.7	0.88788	.	0.000000	0.56097	D	0.000030	T	0.19886	0.0478	L	0.46741	1.465	0.43242	D	0.995158	P;P	0.52463	0.946;0.953	P;P	0.55667	0.781;0.609	T	0.00026	-1.2311	10	0.72032	D	0.01	-28.9298	18.3921	0.90486	0.0:0.0:1.0:0.0	.	1082;1194	F8WAI8;Q9NUA8	.;ZBT40_HUMAN	Q	1194;1194;1082	ENSP00000384527:E1194Q;ENSP00000364798:E1194Q;ENSP00000363782:E1082Q	ENSP00000363782:E1082Q	E	+	1	0	ZBTB40	22725336	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.823000	0.62694	2.694000	0.91930	0.650000	0.86243	GAG		0.587	ZBTB40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008094.1		NM_014870		19	78	0	0	0	1	0	19	78		
MYOM3	127294	broad.mit.edu	37	1	24421367	24421367	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:24421367C>T	ENST00000374434.3	-	9	1066	c.904G>A	c.(904-906)Gag>Aag	p.E302K	MYOM3_ENST00000330966.7_Missense_Mutation_p.E303K|MYOM3_ENST00000329601.7_Missense_Mutation_p.E302K|MYOM3_ENST00000475306.1_5'UTR	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	302	Ig-like C2-type 2.					M band (GO:0031430)	protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		TGGATGCTCTCAGCATCTAAC	0.577																																						uc001bin.3		NaN																	0				skin(2)|ovary(1)	3						c.(904-906)GAG>AAG		myomesin family, member 3							53.0	54.0	53.0					1																	24421367		1942	4147	6089	SO:0001583	missense	127294							g.chr1:24421367C>T	AK093280	CCDS41281.1	1p36	2013-02-11	2012-10-17		ENSG00000142661	ENSG00000142661		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	26679	protein-coding gene	gene with protein product			"""myomesin family, member 3"""			18177667	Standard	NM_152372		Approved	FLJ35961	uc001bin.4	Q5VTT5	OTTHUMG00000002969	ENST00000374434.3:c.904G>A	1.37:g.24421367C>T	ENSP00000363557:p.Glu302Lys					MYOM3_uc001bim.3_5'UTR|MYOM3_uc001bio.2_Missense_Mutation_p.E302K|MYOM3_uc001bip.1_5'UTR	p.E302K	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)	9	1067	-		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)	302			Ig-like C2-type 2.		A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	Missense_Mutation	SNP	ENST00000374434.3	37	c.904G>A	CCDS41281.1	.	.	.	.	.	.	.	.	.	.	C	14.98	2.697390	0.48202	.	.	ENSG00000142661	ENST00000374434;ENST00000330966;ENST00000329601	T;T;T	0.66280	-0.2;-0.2;-0.2	5.37	4.43	0.53597	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.234662	0.44285	D	0.000467	T	0.51024	0.1650	L	0.36672	1.1	0.20074	N	0.999931	B;B	0.31351	0.01;0.32	B;B	0.34301	0.022;0.179	T	0.43163	-0.9408	10	0.30078	T	0.28	.	11.1204	0.48287	0.0:0.703:0.297:0.0	.	302;302	Q5VTT5-2;Q5VTT5	.;MYOM3_HUMAN	K	302;303;302	ENSP00000363557:E302K;ENSP00000332670:E303K;ENSP00000328415:E302K	ENSP00000328415:E302K	E	-	1	0	MYOM3	24293954	0.967000	0.33354	0.922000	0.36590	0.887000	0.51463	2.005000	0.40864	2.509000	0.84616	0.557000	0.71058	GAG		0.577	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008272.2		NM_152372		9	30	0	0	0	1	0	9	30		
LIN28A	79727	broad.mit.edu	37	1	26752886	26752886	+	Silent	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:26752886C>G	ENST00000326279.6	+	4	681	c.567C>G	c.(565-567)acC>acG	p.T189T	LIN28A_ENST00000254231.4_Silent_p.T189T	NM_024674.4	NP_078950.1	Q9H9Z2	LN28A_HUMAN	lin-28 homolog A (C. elegans)	189					germ cell development (GO:0007281)|miRNA catabolic process (GO:0010587)|negative regulation of glial cell differentiation (GO:0045686)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of translation (GO:0045727)|pre-miRNA processing (GO:0031054)|regulation of gene silencing by miRNA (GO:0060964)|regulation of transcription, DNA-templated (GO:0006355)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|miRNA binding (GO:0035198)|mRNA binding (GO:0003729)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)	8						GAAAGCCAACCTACTTTCGAG	0.557																																						uc001bmj.2		NaN																	0				central_nervous_system(1)	1						c.(565-567)ACC>ACG		lin-28 homolog							61.0	60.0	60.0					1																	26752886		2203	4300	6503	SO:0001819	synonymous_variant	79727				miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing|stem cell maintenance	cytoplasmic mRNA processing body|nucleolus|stress granule	DNA binding|zinc ion binding	g.chr1:26752886C>G	AF521099	CCDS280.1	1p35.3	2013-01-09	2010-04-06	2010-04-06	ENSG00000131914	ENSG00000131914		"""Zinc fingers, CCHC domain containing"""	15986	protein-coding gene	gene with protein product		611043	"""lin-28 homolog (C. elegans)"""	LIN28		12798299	Standard	XM_006710899		Approved	LIN-28, FLJ12457, ZCCHC1, CSDD1	uc001bmj.3	Q9H9Z2	OTTHUMG00000003550	ENST00000326279.6:c.567C>G	1.37:g.26752886C>G						LIN28A_uc001bmi.1_RNA	p.T189T	NM_024674	NP_078950	Q9H9Z2	LN28A_HUMAN			4	681	+			189						Silent	SNP	ENST00000326279.6	37	c.567C>G	CCDS280.1																																																																																				0.557	LIN28A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009891.2		NM_024674		18	55	0	0	0	1	0	18	55		
PIGV	55650	broad.mit.edu	37	1	27121497	27121497	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:27121497G>C	ENST00000374145.1	+	3	1654	c.972G>C	c.(970-972)caG>caC	p.Q324H	PIGV_ENST00000078527.4_Missense_Mutation_p.Q324H|PIGV_ENST00000449950.2_Missense_Mutation_p.Q96H	NM_001202554.1	NP_001189483.1	Q9NUD9	PIGV_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class V	324					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	mannosyltransferase activity (GO:0000030)			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	14		all_cancers(24;3.93e-26)|all_epithelial(13;3.96e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.26e-54)|Epithelial(14;2.85e-53)|OV - Ovarian serous cystadenocarcinoma(117;1.91e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000504)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.0222)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227)		AGCTCAAGCAGGTGCCCAATT	0.488																																						uc001bmz.2		NaN																	0				ovary(1)	1						c.(970-972)CAG>CAC		phosphatidylinositol glycan class V							158.0	168.0	165.0					1																	27121497		2203	4300	6503	SO:0001583	missense	55650				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	glycolipid mannosyltransferase activity	g.chr1:27121497G>C	AK000484	CCDS287.1	1p36.11	2013-02-26	2006-06-28		ENSG00000060642	ENSG00000060642		"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"", ""Phosphatidylinositol glycan anchor biosynthesis"""	26031	protein-coding gene	gene with protein product	"""GPI mannosyltransferase 2"", ""dol-P-Man dependent GPI mannosyltransferase"""	610274	"""phosphatidylinositol glycan, class V"""			15623507	Standard	NM_017837		Approved	FLJ20477	uc001bmz.3	Q9NUD9	OTTHUMG00000004005	ENST00000374145.1:c.972G>C	1.37:g.27121497G>C	ENSP00000363260:p.Gln324His					PIGV_uc001bmy.2_Missense_Mutation_p.Q89H|PIGV_uc009vso.2_Missense_Mutation_p.Q324H|PIGV_uc010ofg.1_Missense_Mutation_p.Q89H|PIGV_uc001bna.2_Missense_Mutation_p.Q324H	p.Q324H	NM_017837	NP_060307	Q9NUD9	PIGV_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.26e-54)|Epithelial(14;2.85e-53)|OV - Ovarian serous cystadenocarcinoma(117;1.91e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000504)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.0222)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227)	3	1303	+		all_cancers(24;3.93e-26)|all_epithelial(13;3.96e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	324			Lumenal (Potential).		D3DPL2|Q5JYG7|Q5JYG8|Q5JYG9|Q9NX26	Missense_Mutation	SNP	ENST00000374145.1	37	c.972G>C	CCDS287.1	.	.	.	.	.	.	.	.	.	.	g	17.09	3.300076	0.60195	.	.	ENSG00000060642	ENST00000078527;ENST00000449950;ENST00000374145	D;D;D	0.84516	-1.86;-1.86;-1.86	5.58	2.7	0.31948	.	0.000000	0.85682	D	0.000000	D	0.92795	0.7709	M	0.91768	3.24	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.92014	0.5620	10	0.66056	D	0.02	-10.1214	10.7839	0.46395	0.2653:0.0:0.7347:0.0	.	324;96	Q9NUD9;B4DWP9	PIGV_HUMAN;.	H	324;96;324	ENSP00000078527:Q324H;ENSP00000395156:Q96H;ENSP00000363260:Q324H	ENSP00000078527:Q324H	Q	+	3	2	PIGV	26994084	1.000000	0.71417	0.980000	0.43619	0.972000	0.66771	1.457000	0.35212	0.313000	0.23062	0.461000	0.40582	CAG		0.488	PIGV-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011441.1		NM_017837		45	202	0	0	0	1	0	45	202		
COL16A1	1307	broad.mit.edu	37	1	32140871	32140871	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:32140871G>A	ENST00000373672.3	-	43	3330	c.2814C>T	c.(2812-2814)ctC>ctT	p.L938L	COL16A1_ENST00000271069.6_Silent_p.L937L	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	938	Collagen-like 5.|Triple-helical region 4 (COL4) with 2 imperfections.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female pregnancy (GO:0007565)|integrin-mediated signaling pathway (GO:0007229)	collagen type XVI trimer (GO:0005597)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		GTTCTGCAGTGAGCCCAGGCT	0.617																																					Colon(143;498 1786 21362 25193 36625)	uc001btk.1		NaN																	0				ovary(8)	8						c.(2812-2814)CTC>CTT		alpha 1 type XVI collagen precursor							66.0	76.0	73.0					1																	32140871		2043	4207	6250	SO:0001819	synonymous_variant	1307				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity	g.chr1:32140871G>A	M92642	CCDS41297.1	1p35-p34	2013-01-16			ENSG00000084636	ENSG00000084636		"""Collagens"""	2193	protein-coding gene	gene with protein product		120326				1631157	Standard	NM_001856		Approved		uc001btk.1	Q07092	OTTHUMG00000003883	ENST00000373672.3:c.2814C>T	1.37:g.32140871G>A						COL16A1_uc001btj.1_Silent_p.L751L	p.L938L	NM_001856	NP_001847	Q07092	COGA1_HUMAN		STAD - Stomach adenocarcinoma(196;0.059)	43	3179	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)	938			Triple-helical region 4 (COL4) with 2 imperfections.		Q16593|Q59F89|Q71RG9	Silent	SNP	ENST00000373672.3	37	c.2814C>T	CCDS41297.1																																																																																				0.617	COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011057.2		NM_001856		11	15	0	0	0	1	0	11	15		
KIAA1522	57648	broad.mit.edu	37	1	33237530	33237530	+	Nonsense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:33237530C>G	ENST00000373480.1	+	6	2676	c.2573C>G	c.(2572-2574)tCa>tGa	p.S858*	KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000401073.2_Nonsense_Mutation_p.S917*|KIAA1522_ENST00000373481.3_Nonsense_Mutation_p.S869*	NM_001198972.1	NP_001185901.1	Q9P206	K1522_HUMAN	KIAA1522	858	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				AGGGCCCTGTCAGGGCGGGCC	0.706																																						uc001bvv.2		NaN																	0					0						c.(2572-2574)TCA>TGA		hypothetical protein LOC57648							8.0	10.0	9.0					1																	33237530		1800	3975	5775	SO:0001587	stop_gained	57648							g.chr1:33237530C>G	AL713671	CCDS41298.1, CCDS55588.1, CCDS55589.1	1p35.1	2009-02-18			ENSG00000162522	ENSG00000162522			29301	protein-coding gene	gene with protein product						10819331	Standard	NM_020888		Approved		uc001bvu.1	Q9P206	OTTHUMG00000008088	ENST00000373480.1:c.2573C>G	1.37:g.33237530C>G	ENSP00000362579:p.Ser858*					KIAA1522_uc001bvu.1_Nonsense_Mutation_p.S917*|KIAA1522_uc010ohm.1_Nonsense_Mutation_p.S869*|KIAA1522_uc010ohn.1_Intron	p.S858*	NM_020888	NP_065939	Q9P206	K1522_HUMAN			6	2709	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)	858			Pro-rich.		B4DQU8|B5MDY0|C9JH84|Q8TCQ0	Nonsense_Mutation	SNP	ENST00000373480.1	37	c.2573C>G	CCDS55588.1	.	.	.	.	.	.	.	.	.	.	C	39	7.781152	0.98486	.	.	ENSG00000162522	ENST00000401073;ENST00000373481;ENST00000373480	.	.	.	4.45	4.45	0.53987	.	0.000000	0.56097	D	0.000038	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-10.7793	17.6441	0.88144	0.0:1.0:0.0:0.0	.	.	.	.	X	917;869;858	.	ENSP00000362579:S858X	S	+	2	0	KIAA1522	33010117	0.998000	0.40836	0.999000	0.59377	0.984000	0.73092	5.198000	0.65147	2.454000	0.82982	0.650000	0.86243	TCA		0.706	KIAA1522-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022130.1				4	14	0	0	0	1	0	4	14		
CSF3R	1441	broad.mit.edu	37	1	36932897	36932897	+	Silent	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:36932897G>T	ENST00000373106.1	-	16	2521	c.1974C>A	c.(1972-1974)ctC>ctA	p.L658L	CSF3R_ENST00000331941.5_Silent_p.L658L|CSF3R_ENST00000487540.2_5'UTR|MRPS15_ENST00000373116.5_5'Flank|CSF3R_ENST00000338937.5_Missense_Mutation_p.S627Y|CSF3R_ENST00000373104.1_Silent_p.L658L|CSF3R_ENST00000373103.1_Silent_p.L658L|CSF3R_ENST00000440588.2_Silent_p.L658L|CSF3R_ENST00000418048.2_Silent_p.L658L|CSF3R_ENST00000361632.4_Silent_p.L658L	NM_000760.3	NP_000751.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	658					cell adhesion (GO:0007155)|defense response (GO:0006952)|neutrophil chemotaxis (GO:0030593)|odontogenesis of dentin-containing tooth (GO:0042475)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	CACTTGGCCAGAGGGGATTCT	0.587																																						uc001caw.1		NaN																	0				central_nervous_system(2)|ovary(1)	3						c.(1972-1974)CTC>CTA		colony stimulating factor 3 receptor isoform a	Filgrastim(DB00099)|Pegfilgrastim(DB00019)						94.0	104.0	101.0					1																	36932897		2203	4300	6503	SO:0001819	synonymous_variant	1441				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity	g.chr1:36932897G>T	M59820	CCDS412.1, CCDS413.1, CCDS414.1	1p35-p34.3	2014-09-17			ENSG00000119535	ENSG00000119535		"""CD molecules"", ""Fibronectin type III domain containing"""	2439	protein-coding gene	gene with protein product		138971		CD114		1371413	Standard	NM_000760		Approved	GCSFR	uc001cax.2	Q99062	OTTHUMG00000008010	ENST00000373106.1:c.1974C>A	1.37:g.36932897G>T						MRPS15_uc001cas.2_5'Flank|CSF3R_uc001cat.1_Silent_p.L220L|CSF3R_uc009vvc.1_Silent_p.L187L|CSF3R_uc001cau.1_Silent_p.L58L|CSF3R_uc001cav.1_Silent_p.L658L|CSF3R_uc001cax.1_Silent_p.L658L|CSF3R_uc001cay.1_Missense_Mutation_p.S627Y	p.L658L	NM_000760	NP_000751	Q99062	CSF3R_HUMAN			16	2152	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	658			Box 1 motif.|Cytoplasmic (Potential).			Silent	SNP	ENST00000373106.1	37	c.1974C>A	CCDS413.1	.	.	.	.	.	.	.	.	.	.	G	9.748	1.166709	0.21621	.	.	ENSG00000119535	ENST00000464465;ENST00000338937	T	0.31247	1.5	5.41	2.19	0.27852	.	.	.	.	.	T	0.47021	0.1423	.	.	.	0.23620	N	0.997277	D	0.76494	0.999	D	0.63488	0.915	T	0.38972	-0.9636	8	0.30078	T	0.28	-20.4808	13.8785	0.63667	0.0:0.4442:0.5557:0.0	.	627	E1B6W6	.	Y	210;627	ENSP00000345013:S627Y	ENSP00000345013:S627Y	S	-	2	0	CSF3R	36705484	1.000000	0.71417	0.996000	0.52242	0.967000	0.64934	1.225000	0.32551	0.607000	0.29982	0.655000	0.94253	TCT		0.587	CSF3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021997.2		NM_156039		38	35	1	0	2.47872e-24	1	2.78548e-24	38	35		
EPHA10	284656	broad.mit.edu	37	1	38192853	38192853	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:38192853C>T	ENST00000373048.4	-	8	1692	c.1693G>A	c.(1693-1695)Gcc>Acc	p.A565T	EPHA10_ENST00000540011.1_Missense_Mutation_p.A60T|EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000330210.7_Missense_Mutation_p.A60T|EPHA10_ENST00000427468.2_Missense_Mutation_p.A565T	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	565					ephrin receptor signaling pathway (GO:0048013)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane-ephrin receptor activity (GO:0005005)			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				ACGACAATGGCGGGGCTCTGG	0.642																																						uc009vvi.2		NaN																	0				breast(4)|stomach(3)|lung(1)	8						c.(1693-1695)GCC>ACC		EPH receptor A10 isofom 3							48.0	63.0	58.0					1																	38192853		2046	4189	6235	SO:0001583	missense	284656					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity	g.chr1:38192853C>T	AK090974	CCDS425.1, CCDS41305.1	1p34.3	2013-02-11			ENSG00000183317	ENSG00000183317		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19987	protein-coding gene	gene with protein product		611123				12477932	Standard	NM_001099439		Approved	FLJ16103, FLJ33655	uc009vvi.3	Q5JZY3	OTTHUMG00000004325	ENST00000373048.4:c.1693G>A	1.37:g.38192853C>T	ENSP00000362139:p.Ala565Thr					EPHA10_uc009vvh.1_RNA|EPHA10_uc001cbu.2_RNA|EPHA10_uc001cbv.1_RNA	p.A565T	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN			8	1779	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	565			Extracellular (Potential).		A4FU89|J3KPB5|Q6NW42	Missense_Mutation	SNP	ENST00000373048.4	37	c.1693G>A	CCDS41305.1	.	.	.	.	.	.	.	.	.	.	C	17.48	3.399538	0.62177	.	.	ENSG00000183317	ENST00000330210;ENST00000427468;ENST00000540011;ENST00000373048	T;T;T;T	0.77358	-1.09;-0.99;2.43;-0.98	5.27	5.27	0.74061	.	0.000000	0.42682	D	0.000671	T	0.72811	0.3507	L	0.51422	1.61	0.28383	N	0.919421	D	0.53619	0.961	B	0.40134	0.32	T	0.73506	-0.3961	10	0.56958	D	0.05	.	16.0512	0.80763	0.0:1.0:0.0:0.0	.	565	Q5JZY3	EPHAA_HUMAN	T	60;565;60;565	ENSP00000330379:A60T;ENSP00000397746:A565T;ENSP00000441822:A60T;ENSP00000362139:A565T	ENSP00000330379:A60T	A	-	1	0	EPHA10	37965440	0.891000	0.30450	0.302000	0.25058	0.725000	0.41563	3.927000	0.56499	2.468000	0.83385	0.462000	0.41574	GCC		0.642	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000012497.2		NM_173641		7	22	0	0	0	1	0	7	22		
EPHA10	284656	broad.mit.edu	37	1	38227612	38227612	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:38227612C>T	ENST00000373048.4	-	3	314	c.315G>A	c.(313-315)ctG>ctA	p.L105L	EPHA10_ENST00000427468.2_Silent_p.L105L|EPHA10_ENST00000319637.6_Silent_p.L105L	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	105	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				ephrin receptor signaling pathway (GO:0048013)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane-ephrin receptor activity (GO:0005005)			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GTGTGAACTGCAGTTCCACGA	0.617																																						uc009vvi.2		NaN																	0				breast(4)|stomach(3)|lung(1)	8						c.(313-315)CTG>CTA		EPH receptor A10 isofom 3							102.0	98.0	99.0					1																	38227612		2203	4300	6503	SO:0001819	synonymous_variant	284656					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity	g.chr1:38227612C>T	AK090974	CCDS425.1, CCDS41305.1	1p34.3	2013-02-11			ENSG00000183317	ENSG00000183317		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19987	protein-coding gene	gene with protein product		611123				12477932	Standard	NM_001099439		Approved	FLJ16103, FLJ33655	uc009vvi.3	Q5JZY3	OTTHUMG00000004325	ENST00000373048.4:c.315G>A	1.37:g.38227612C>T						EPHA10_uc001cbw.3_Silent_p.L105L	p.L105L	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN			3	401	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	105			Extracellular (Potential).		A4FU89|J3KPB5|Q6NW42	Silent	SNP	ENST00000373048.4	37	c.315G>A	CCDS41305.1																																																																																				0.617	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000012497.2		NM_173641		71	57	0	0	0	1	0	71	57		
ZFP69	339559	broad.mit.edu	37	1	40961190	40961190	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:40961190G>A	ENST00000372706.1	+	6	2046	c.1040G>A	c.(1039-1041)aGa>aAa	p.R347K	ZFP69_ENST00000372705.3_Missense_Mutation_p.R347K|RP11-656D10.3_ENST00000450713.1_RNA			Q49AA0	ZFP69_HUMAN	ZFP69 zinc finger protein	347					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										CAGCATCATAGAACTCACACT	0.433																																						uc001cfo.2		NaN																	0					0						c.(1039-1041)AGA>AAA		zinc finger protein 642							95.0	92.0	93.0					1																	40961190		2203	4300	6503	SO:0001583	missense	339559				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:40961190G>A	AK122618	CCDS30686.1	1p34.2	2013-01-09	2012-11-27	2012-11-27	ENSG00000187815	ENSG00000187815		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	24708	protein-coding gene	gene with protein product	"""ZFP69 zinc finger protein A"""		"""zinc finger protein 642"""	ZNF642			Standard	XM_005270808		Approved	ZKSCAN23A, FLJ16030, ZFP69A, ZSCAN54A	uc001cfo.3	Q49AA0	OTTHUMG00000007303	ENST00000372706.1:c.1040G>A	1.37:g.40961190G>A	ENSP00000361791:p.Arg347Lys					ZNF642_uc009vwb.2_Missense_Mutation_p.R347K|ZNF642_uc010ojk.1_Missense_Mutation_p.R348K	p.R347K	NM_198494	NP_940896	Q49AA0	ZN642_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;8.81e-19)		6	1334	+	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	347			C2H2-type 3.		Q5SWM5|Q6ZWK8	Missense_Mutation	SNP	ENST00000372706.1	37	c.1040G>A	CCDS30686.1	.	.	.	.	.	.	.	.	.	.	G	19.99	3.929403	0.73327	.	.	ENSG00000187815	ENST00000372706;ENST00000372705	T;T	0.18338	2.22;2.22	4.65	4.65	0.58169	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.47093	D	0.000241	T	0.24547	0.0595	L	0.41236	1.265	0.31159	N	0.704582	D	0.53151	0.958	P	0.51895	0.683	T	0.02307	-1.1179	10	0.56958	D	0.05	-21.4671	15.8405	0.78842	0.0:0.0:1.0:0.0	.	347	Q49AA0	ZN642_HUMAN	K	347	ENSP00000361791:R347K;ENSP00000361790:R347K	ENSP00000361790:R347K	R	+	2	0	ZNF642	40733777	0.953000	0.32496	1.000000	0.80357	0.998000	0.95712	3.925000	0.56484	2.854000	0.98071	0.655000	0.94253	AGA		0.433	ZFP69-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019082.1		NM_198494		25	71	0	0	0	1	0	25	71		
EBNA1BP2	10969	broad.mit.edu	37	1	43630326	43630326	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:43630326C>G	ENST00000236051.2	-	8	999	c.858G>C	c.(856-858)aaG>aaC	p.K286N	EBNA1BP2_ENST00000431635.2_Missense_Mutation_p.K341N	NM_006824.2	NP_006815.2	Q99848	EBP2_HUMAN	EBNA1 binding protein 2	286					ribosome biogenesis (GO:0042254)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)	16	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TTGACCCTTTCTTGCCAGGCC	0.572																																						uc001cin.2		NaN																	0					0						c.(856-858)AAG>AAC		EBNA1 binding protein 2 isoform 2							68.0	68.0	68.0					1																	43630326		2203	4300	6503	SO:0001583	missense	10969				ribosome biogenesis	membrane fraction|nucleolus	protein binding	g.chr1:43630326C>G	U86602	CCDS478.1, CCDS53308.1	1p35-p33	2011-02-10	2001-11-28		ENSG00000117395	ENSG00000117395			15531	protein-coding gene	gene with protein product		614443	"""EBNA1-binding protein 2"""			10074103, 11438656	Standard	NM_001159936		Approved	NOBP, EBP2, P40	uc010ojx.2	Q99848	OTTHUMG00000007284	ENST00000236051.2:c.858G>C	1.37:g.43630326C>G	ENSP00000236051:p.Lys286Asn					EBNA1BP2_uc001cio.2_Missense_Mutation_p.K341N|EBNA1BP2_uc001cim.2_Missense_Mutation_p.K181N|EBNA1BP2_uc010ojx.1_Missense_Mutation_p.K341N	p.K286N	NM_006824	NP_006815	Q99848	EBP2_HUMAN			8	1055	-	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	286					Q96A66	Missense_Mutation	SNP	ENST00000236051.2	37	c.858G>C	CCDS478.1	.	.	.	.	.	.	.	.	.	.	C	11.11	1.543608	0.27563	.	.	ENSG00000117395	ENST00000431635;ENST00000236051	T;T	0.52526	0.66;0.7	5.3	2.39	0.29439	.	0.152099	0.56097	D	0.000022	T	0.46308	0.1386	M	0.81942	2.565	0.47659	D	0.999485	P;P	0.36199	0.543;0.543	B;B	0.34991	0.193;0.193	T	0.43491	-0.9388	10	0.36615	T	0.2	-19.7263	9.6231	0.39734	0.0:0.6602:0.0:0.3398	.	286;286	Q6IB29;Q99848	.;EBP2_HUMAN	N	341;286	ENSP00000407323:K341N;ENSP00000236051:K286N	ENSP00000236051:K286N	K	-	3	2	EBNA1BP2	43402913	0.989000	0.36119	1.000000	0.80357	0.582000	0.36321	0.202000	0.17295	0.738000	0.32606	0.446000	0.29264	AAG		0.572	EBNA1BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019015.1				33	20	0	0	0	1	0	33	20		
ARTN	9048	broad.mit.edu	37	1	44401357	44401357	+	Missense_Mutation	SNP	C	C	T	rs373730001		TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:44401357C>T	ENST00000372359.5	+	3	811	c.29C>T	c.(28-30)aCg>aTg	p.T10M	ARTN_ENST00000372354.3_Missense_Mutation_p.T10M|ARTN_ENST00000414809.3_Missense_Mutation_p.T10M|ARTN_ENST00000472435.1_Missense_Mutation_p.T10M|ARTN_ENST00000498139.2_Missense_Mutation_p.T10M|ARTN_ENST00000438616.3_5'Flank|ARTN_ENST00000479128.1_Missense_Mutation_p.T10M	NM_057091.2	NP_476432.2	Q5T4W7	ARTN_HUMAN	artemin	10					axon guidance (GO:0007411)|induction of positive chemotaxis (GO:0050930)|lymphocyte migration into lymphoid organs (GO:0097021)|neuroblast proliferation (GO:0007405)|peripheral nervous system development (GO:0007422)|Peyer's patch morphogenesis (GO:0061146)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	receptor binding (GO:0005102)					Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				GGCCTCTCCACGCTGTCCCAC	0.597																																						uc001cks.2		NaN																	0					0						c.(28-30)ACG>ATG		neurotrophic factor artemin isoform 1 precursor		C	MET/THR,MET/THR,MET/THR	0,4406		0,0,2203	96.0	68.0	78.0		29,29,29	-2.1	0.0	1		78	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense	ARTN	NM_001136215.1,NM_057090.2,NM_057091.2	81,81,81	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,,	10/229,10/229,10/221	44401357	2,13004	2203	4300	6503	SO:0001583	missense	9048				axon guidance|neuroblast proliferation|signal transduction	extracellular region	growth factor activity	g.chr1:44401357C>T	AF109401	CCDS501.1, CCDS502.1	1p33-p32	2014-01-30			ENSG00000117407	ENSG00000117407		"""Endogenous ligands"""	727	protein-coding gene	gene with protein product	"""neublastin"", ""neurotrophic factor"""	603886				9883723	Standard	NM_057090		Approved	NBN, EVN, ENOVIN	uc001ckt.3	Q5T4W7	OTTHUMG00000007705	ENST00000372359.5:c.29C>T	1.37:g.44401357C>T	ENSP00000361434:p.Thr10Met					ARTN_uc001ckv.2_Missense_Mutation_p.T10M|ARTN_uc001ckt.2_Missense_Mutation_p.T10M|ARTN_uc001cku.2_Missense_Mutation_p.T10M|ARTN_uc001ckw.2_5'Flank	p.T10M	NM_057091	NP_476432	Q5T4W7	ARTN_HUMAN			3	811	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)	10					D3DPY1|D3DPY3|O95441|O96030|Q6P6A3	Missense_Mutation	SNP	ENST00000372359.5	37	c.29C>T	CCDS501.1	.	.	.	.	.	.	.	.	.	.	C	10.86	1.470859	0.26423	0.0	2.33E-4	ENSG00000117407	ENST00000372359;ENST00000414809;ENST00000477048;ENST00000471394;ENST00000498139;ENST00000491846;ENST00000479128;ENST00000472435;ENST00000474592;ENST00000372354	D;D;T;T;D;T;T;T;T;D	0.83506	-1.73;-1.73;0.77;0.77;-1.73;0.78;0.76;0.76;0.78;-1.73	3.77	-2.09	0.07232	.	2.098390	0.02757	N	0.118213	T	0.59609	0.2206	N	0.08118	0	0.09310	N	1	P;P	0.46327	0.876;0.803	B;B	0.30029	0.11;0.051	T	0.59952	-0.7357	10	0.49607	T	0.09	.	4.4016	0.11390	0.0:0.3441:0.1757:0.4802	.	10;10	Q5T4W7-3;Q5T4W7	.;ARTN_HUMAN	M	10	ENSP00000361434:T10M;ENSP00000387435:T10M;ENSP00000434784:T10M;ENSP00000435804:T10M;ENSP00000436727:T10M;ENSP00000436149:T10M;ENSP00000434071:T10M;ENSP00000435140:T10M;ENSP00000434856:T10M;ENSP00000361429:T10M	ENSP00000361429:T10M	T	+	2	0	ARTN	44173944	0.173000	0.23056	0.000000	0.03702	0.018000	0.09664	-0.287000	0.08388	-0.406000	0.07588	-0.140000	0.14226	ACG		0.597	ARTN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000020713.2		NM_057090		7	13	0	0	0	1	0	7	13		
IPO13	9670	broad.mit.edu	37	1	44422329	44422329	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:44422329G>T	ENST00000372343.3	+	4	1722	c.1060G>T	c.(1060-1062)Gag>Tag	p.E354*	IPO13_ENST00000492152.1_3'UTR	NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	354					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				TCCTGTCAATGAGACCACCAG	0.547																																						uc001ckx.2		NaN																	0				central_nervous_system(1)	1						c.(1060-1062)GAG>TAG		importin 13							147.0	133.0	138.0					1																	44422329		2203	4300	6503	SO:0001587	stop_gained	9670				protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity	g.chr1:44422329G>T	AB018267	CCDS503.1	1p34.1	2008-02-05			ENSG00000117408	ENSG00000117408		"""Importins"""	16853	protein-coding gene	gene with protein product		610411				9872452, 11447110	Standard	NM_014652		Approved	IMP13, KIAA0724, RANBP13	uc001ckx.3	O94829	OTTHUMG00000008297	ENST00000372343.3:c.1060G>T	1.37:g.44422329G>T	ENSP00000361418:p.Glu354*						p.E354*	NM_014652	NP_055467	O94829	IPO13_HUMAN			4	1855	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)	354			HEAT 5.		D3DPY4|Q5T4X3|Q7LC04|Q96HS3|Q9H8N3|Q9UFR1	Nonsense_Mutation	SNP	ENST00000372343.3	37	c.1060G>T	CCDS503.1	.	.	.	.	.	.	.	.	.	.	G	43	10.008667	0.99317	.	.	ENSG00000117408	ENST00000372343	.	.	.	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	-13.3394	19.9441	0.97176	0.0:0.0:1.0:0.0	.	.	.	.	X	354	.	ENSP00000361418:E354X	E	+	1	0	IPO13	44194916	1.000000	0.71417	0.991000	0.47740	0.995000	0.86356	9.852000	0.99516	2.721000	0.93114	0.511000	0.50034	GAG		0.547	IPO13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022846.1		NM_014652		39	69	1	0	1.49673e-21	1	1.67272e-21	39	69		
IPO13	9670	broad.mit.edu	37	1	44424502	44424502	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:44424502G>A	ENST00000372343.3	+	11	2631	c.1969G>A	c.(1969-1971)Gag>Aag	p.E657K		NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	657					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				CAGTCATCATGAGGATGATCA	0.547																																						uc001ckx.2		NaN																	0				central_nervous_system(1)	1						c.(1969-1971)GAG>AAG		importin 13							103.0	95.0	98.0					1																	44424502		2203	4300	6503	SO:0001583	missense	9670				protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity	g.chr1:44424502G>A	AB018267	CCDS503.1	1p34.1	2008-02-05			ENSG00000117408	ENSG00000117408		"""Importins"""	16853	protein-coding gene	gene with protein product		610411				9872452, 11447110	Standard	NM_014652		Approved	IMP13, KIAA0724, RANBP13	uc001ckx.3	O94829	OTTHUMG00000008297	ENST00000372343.3:c.1969G>A	1.37:g.44424502G>A	ENSP00000361418:p.Glu657Lys						p.E657K	NM_014652	NP_055467	O94829	IPO13_HUMAN			11	2764	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)	657			HEAT 11.		D3DPY4|Q5T4X3|Q7LC04|Q96HS3|Q9H8N3|Q9UFR1	Missense_Mutation	SNP	ENST00000372343.3	37	c.1969G>A	CCDS503.1	.	.	.	.	.	.	.	.	.	.	G	17.78	3.474374	0.63737	.	.	ENSG00000117408	ENST00000372343	.	.	.	5.66	5.66	0.87406	Armadillo-type fold (1);	0.101761	0.64402	D	0.000004	T	0.48169	0.1485	N	0.24115	0.695	0.80722	D	1	B	0.17268	0.021	B	0.12837	0.008	T	0.47058	-0.9146	9	0.06625	T	0.88	-15.2152	19.743	0.96238	0.0:0.0:1.0:0.0	.	657	O94829	IPO13_HUMAN	K	657	.	ENSP00000361418:E657K	E	+	1	0	IPO13	44197089	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	9.471000	0.97696	2.667000	0.90743	0.650000	0.86243	GAG		0.547	IPO13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022846.1		NM_014652		24	39	0	0	0	1	0	24	39		
STIL	6491	broad.mit.edu	37	1	47717130	47717130	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:47717130G>A	ENST00000360380.3	-	18	3905	c.3542C>T	c.(3541-3543)tCt>tTt	p.S1181F	STIL_ENST00000396221.2_Missense_Mutation_p.S1164F|STIL_ENST00000337817.5_Missense_Mutation_p.S1181F|STIL_ENST00000371877.3_Missense_Mutation_p.S1182F|STIL_ENST00000243182.6_Missense_Mutation_p.S1181F	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	1181					cell proliferation (GO:0008283)|determination of left/right symmetry (GO:0007368)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|notochord development (GO:0030903)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				TTCACAGTTAGAACAATTAAT	0.373																																						uc001crc.1		NaN																	0				lung(2)|skin(1)	3						c.(3541-3543)TCT>TTT		SCL/TAL1 interrupting locus isoform 2							102.0	102.0	102.0					1																	47717130		2203	4300	6503	SO:0001583	missense	6491				cell proliferation|multicellular organismal development	centrosome|cytosol		g.chr1:47717130G>A	M74558	CCDS548.1, CCDS41329.1, CCDS72785.1, CCDS72786.1	1p32	2010-02-09	2005-11-29	2005-11-29	ENSG00000123473	ENSG00000123473			10879	protein-coding gene	gene with protein product		181590	"""TAL1 (SCL) interrupting locus"""	SIL		2209547	Standard	NM_003035		Approved	MCPH7	uc001crd.1	Q15468	OTTHUMG00000007851	ENST00000360380.3:c.3542C>T	1.37:g.47717130G>A	ENSP00000353544:p.Ser1181Phe					TAL1_uc001crb.1_Intron|STIL_uc010omn.1_Missense_Mutation_p.S1135F|STIL_uc010omo.1_Missense_Mutation_p.S1164F|STIL_uc001crd.1_Missense_Mutation_p.S1182F|STIL_uc001cre.1_Missense_Mutation_p.S1181F	p.S1181F	NM_003035	NP_003026	Q15468	STIL_HUMAN			17	3697	-		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)	1181					Q5T0C5|Q68CN9	Missense_Mutation	SNP	ENST00000360380.3	37	c.3542C>T	CCDS548.1	.	.	.	.	.	.	.	.	.	.	G	0.013	-1.646911	0.00792	.	.	ENSG00000123473	ENST00000360380;ENST00000337817;ENST00000371877;ENST00000396221;ENST00000243182	T;T;T;T;T	0.19105	2.17;2.17;2.17;2.17;2.17	6.01	-4.33	0.03677	.	1.594010	0.03019	N	0.150420	T	0.13500	0.0327	L	0.27053	0.805	0.09310	N	1	B;B;B	0.24882	0.113;0.113;0.113	B;B;B	0.21151	0.033;0.033;0.033	T	0.28299	-1.0048	10	0.10377	T	0.69	2.4726	10.9775	0.47475	0.0:0.2064:0.5183:0.2753	.	1164;1182;1181	E9PSF2;Q15468-2;Q15468	.;.;STIL_HUMAN	F	1181;1181;1182;1164;1181	ENSP00000353544:S1181F;ENSP00000337367:S1181F;ENSP00000360944:S1182F;ENSP00000379523:S1164F;ENSP00000243182:S1181F	ENSP00000243182:S1181F	S	-	2	0	STIL	47489717	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	-0.077000	0.11394	-0.619000	0.05648	-0.485000	0.04761	TCT		0.373	STIL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021649.2		NM_003035		36	66	0	0	0	1	0	36	66		
FAF1	11124	broad.mit.edu	37	1	50956338	50956338	+	Splice_Site	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:50956338C>G	ENST00000396153.2	-	17	2027		c.e17-1		FAF1_ENST00000371778.4_Splice_Site|FAF1_ENST00000545823.1_Splice_Site	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN	Fas (TNFRSF6) associated factor 1						apoptotic process (GO:0006915)|cell death (GO:0008219)|cytoplasmic sequestering of NF-kappaB (GO:0007253)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of protein complex assembly (GO:0031334)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of cell adhesion (GO:0030155)|regulation of protein catabolic process (GO:0042176)|regulation of protein kinase activity (GO:0045859)	CD95 death-inducing signaling complex (GO:0031265)|Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	heat shock protein binding (GO:0031072)|NF-kappaB binding (GO:0051059)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		GAGCTTCCCTCTGTTGATAAA	0.378																																						uc009vyx.1		NaN																	0				ovary(1)|pancreas(1)	2						c.e18-1		FAS-associated factor 1							148.0	137.0	141.0					1																	50956338		2203	4300	6503	SO:0001630	splice_region_variant	11124				apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process	CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm	heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity	g.chr1:50956338C>G	AF132938	CCDS554.1	1p32.3	2012-09-20			ENSG00000185104	ENSG00000185104		"""UBX domain containing"""	3578	protein-coding gene	gene with protein product	"""TNFRSF6-associated factor 1"", ""UBX domain protein 3A"""	604460				10462485	Standard	NM_007051		Approved	CGI-03, hFAF1, HFAF1s, UBXD12, UBXN3A	uc001cse.1	Q9UNN5	OTTHUMG00000007930	ENST00000396153.2:c.1576-1G>C	1.37:g.50956338C>G						FAF1_uc009vyw.1_Splice_Site|FAF1_uc001cse.1_Splice_Site_p.R526_splice|FAF1_uc010onc.1_Splice_Site_p.R284_splice	p.R526_splice	NM_007051	NP_008982	Q9UNN5	FAF1_HUMAN		GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)	18	1639	-								Q549F0|Q9UF34|Q9UNT3|Q9Y2Z3	Splice_Site	SNP	ENST00000396153.2	37	c.1576_splice	CCDS554.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.224414	0.79576	.	.	ENSG00000185104	ENST00000396153;ENST00000371778;ENST00000545823;ENST00000371780;ENST00000543607	.	.	.	5.78	4.87	0.63330	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.233	0.65906	0.0:0.9279:0.0:0.0721	.	.	.	.	.	-1	.	.	.	-	.	.	FAF1	50728926	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.870000	0.69620	1.451000	0.47736	0.655000	0.94253	.		0.378	FAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021807.1		NM_007051	Intron	34	74	0	0	0	1	0	34	74		
C1orf168	199920	broad.mit.edu	37	1	57192183	57192183	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:57192183C>G	ENST00000343433.6	-	16	1947	c.1867G>C	c.(1867-1869)Gaa>Caa	p.E623Q	C1orf168_ENST00000484327.1_5'Flank	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	623										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						TCTGATTCTTCAGCACCGTTT	0.378																																						uc001cym.3		NaN																	0				ovary(3)|skin(2)	5						c.(1867-1869)GAA>CAA		hypothetical protein LOC199920							151.0	144.0	146.0					1																	57192183		2203	4300	6503	SO:0001583	missense	199920							g.chr1:57192183C>G	BX648439	CCDS30729.1	1p32.2	2011-02-22			ENSG00000187889	ENSG00000187889			27295	protein-coding gene	gene with protein product						14702039	Standard	NM_001004303		Approved	RP4-758N20.2, FLJ43208	uc001cym.4	Q5VWT5	OTTHUMG00000008281	ENST00000343433.6:c.1867G>C	1.37:g.57192183C>G	ENSP00000345972:p.Glu623Gln					C1orf168_uc009vzu.1_RNA|C1orf168_uc001cyl.2_RNA	p.E623Q	NM_001004303	NP_001004303	Q5VWT5	CA168_HUMAN			16	2273	-			623					Q63HM3|Q6ZUY6	Missense_Mutation	SNP	ENST00000343433.6	37	c.1867G>C	CCDS30729.1	.	.	.	.	.	.	.	.	.	.	C	0.332	-0.955819	0.02267	.	.	ENSG00000187889	ENST00000343433	T	0.31247	1.5	4.03	-2.21	0.06973	.	1.174770	0.06245	N	0.691035	T	0.19846	0.0477	L	0.31294	0.92	0.09310	N	1	B	0.16396	0.017	B	0.15484	0.013	T	0.27365	-1.0076	10	0.31617	T	0.26	-0.0011	5.9052	0.18992	0.0:0.3031:0.4804:0.2166	.	623	Q5VWT5	CA168_HUMAN	Q	623	ENSP00000345972:E623Q	ENSP00000345972:E623Q	E	-	1	0	C1orf168	56964771	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-0.211000	0.09332	-0.551000	0.06175	-0.176000	0.13171	GAA		0.378	C1orf168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022751.2		NM_001004303		20	67	0	0	0	1	0	20	67		
TACSTD2	4070	broad.mit.edu	37	1	59042168	59042168	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:59042168C>A	ENST00000371225.2	-	1	998	c.661G>T	c.(661-663)Gat>Tat	p.D221Y		NM_002353.2	NP_002344.2	P09758	TACD2_HUMAN	tumor-associated calcium signal transducer 2	221					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of branching involved in ureteric bud morphogenesis (GO:0090191)|negative regulation of cell motility (GO:2000146)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of stress fiber assembly (GO:0051497)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of stem cell differentiation (GO:2000738)|regulation of epithelial cell proliferation (GO:0050678)|ureteric bud morphogenesis (GO:0060675)|visual perception (GO:0007601)	basal plasma membrane (GO:0009925)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|nucleus (GO:0005634)	receptor activity (GO:0004872)					all_cancers(7;6.54e-05)					TAGGCGGCATCGCCGATATCC	0.652																																						uc001cyz.3		NaN																	0					0						c.(661-663)GAT>TAT		tumor-associated calcium signal transducer 2							15.0	17.0	16.0					1																	59042168		2196	4294	6490	SO:0001583	missense	4070				cell proliferation|cell surface receptor linked signaling pathway|visual perception	cytosol|integral to plasma membrane	receptor activity	g.chr1:59042168C>A	X77753	CCDS609.1	1p32	2008-02-05			ENSG00000184292	ENSG00000184292			11530	protein-coding gene	gene with protein product		137290		M1S1		8382772, 11306819	Standard	NM_002353		Approved	TROP2, GA733-1, EGP-1	uc001cyz.4	P09758	OTTHUMG00000010067	ENST00000371225.2:c.661G>T	1.37:g.59042168C>A	ENSP00000360269:p.Asp221Tyr						p.D221Y	NM_002353	NP_002344	P09758	TACD2_HUMAN			1	999	-	all_cancers(7;6.54e-05)		221			Extracellular (Potential).		Q15658|Q6FG48|Q7Z7Q4|Q96QD2	Missense_Mutation	SNP	ENST00000371225.2	37	c.661G>T	CCDS609.1	.	.	.	.	.	.	.	.	.	.	C	15.66	2.899054	0.52227	.	.	ENSG00000184292	ENST00000371225	T	0.79352	-1.26	4.64	4.64	0.57946	.	0.348170	0.30401	N	0.009717	D	0.87406	0.6169	M	0.76574	2.34	0.45899	D	0.998742	D	0.89917	1.0	D	0.91635	0.999	D	0.88918	0.3364	10	0.72032	D	0.01	-8.1652	15.8582	0.79000	0.0:1.0:0.0:0.0	.	221	P09758	TACD2_HUMAN	Y	221	ENSP00000360269:D221Y	ENSP00000360269:D221Y	D	-	1	0	TACSTD2	58814756	1.000000	0.71417	0.998000	0.56505	0.240000	0.25518	4.218000	0.58554	2.392000	0.81423	0.561000	0.74099	GAT		0.652	TACSTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027818.1		NM_002353		7	14	1	0	8.12818e-05	1	8.34986e-05	7	14		
JAK1	3716	broad.mit.edu	37	1	65316594	65316594	+	Splice_Site	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:65316594C>T	ENST00000342505.4	-	12	1897		c.e12-1		JAK1_ENST00000465376.1_5'Flank	NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1						cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-2-mediated signaling pathway (GO:0038110)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to antibiotic (GO:0046677)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	TTGGAGATTTCTGTGGAAGAG	0.597			Mis		ALL																																	uc001dbu.1		NaN		Dom	yes		1	1p32.3-p31.3	3716	Mis	Janus kinase 1			L			ALL		0				haematopoietic_and_lymphoid_tissue(34)|prostate(7)|soft_tissue(6)|lung(4)|breast(3)|central_nervous_system(2)|liver(2)|large_intestine(1)|stomach(1)|ovary(1)	61						c.e12-1		janus kinase 1							36.0	37.0	37.0					1																	65316594		1918	4124	6042	SO:0001630	splice_region_variant	3716				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	g.chr1:65316594C>T	M64174	CCDS41346.1	1p32.3-p31.3	2009-07-10	2009-04-23		ENSG00000162434	ENSG00000162434	2.7.10.1		6190	protein-coding gene	gene with protein product		147795		JAK1B		1848670, 7698020	Standard	NM_002227		Approved	JAK1A, JTK3	uc001dbu.1	P23458	OTTHUMG00000009310	ENST00000342505.4:c.1649-1G>A	1.37:g.65316594C>T						JAK1_uc009wam.1_Splice_Site_p.E538_splice	p.E550_splice	NM_002227	NP_002218	P23458	JAK1_HUMAN		BRCA - Breast invasive adenocarcinoma(111;0.0485)	12	1898	-								Q59GQ2|Q9UD26	Splice_Site	SNP	ENST00000342505.4	37	c.1649_splice	CCDS41346.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.384723	0.82792	.	.	ENSG00000162434	ENST00000342505	.	.	.	4.87	4.87	0.63330	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8979	0.92430	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	JAK1	65089182	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	6.940000	0.75917	2.625000	0.88918	0.650000	0.86243	.		0.597	JAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025791.1		NM_002227	Intron	5	14	0	0	0	1	0	5	14		
SLC35D1	23169	broad.mit.edu	37	1	67518490	67518490	+	Silent	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:67518490G>C	ENST00000235345.5	-	3	373	c.288C>G	c.(286-288)gtC>gtG	p.V96V	SLC35D1_ENST00000506472.2_Silent_p.V17V	NM_015139.2	NP_055954.1	Q9NTN3	S35D1_HUMAN	solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1	96					carbohydrate transport (GO:0008643)|cellular glucuronidation (GO:0052695)|chondroitin sulfate biosynthetic process (GO:0030206)|embryonic skeletal system development (GO:0048706)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|UDP-glucuronate biosynthetic process (GO:0006065)|UDP-glucuronic acid transport (GO:0015787)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	UDP-glucuronic acid transmembrane transporter activity (GO:0005461)			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)	10						CAGGAAACTTGACTACTCTGA	0.393																																						uc001ddk.2		NaN																	0					0						c.(286-288)GTC>GTG		solute carrier family 35 (UDP-glucuronic	Lorazepam(DB00186)						118.0	117.0	117.0					1																	67518490		2203	4300	6503	SO:0001819	synonymous_variant	23169				chondroitin sulfate biosynthetic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	integral to endoplasmic reticulum membrane	UDP-glucuronic acid transmembrane transporter activity|UDP-N-acetylgalactosamine transmembrane transporter activity	g.chr1:67518490G>C	AB044343	CCDS636.1	1p32-p31	2013-07-17	2013-07-17		ENSG00000116704	ENSG00000116704		"""Solute carriers"""	20800	protein-coding gene	gene with protein product		610804	"""solute carrier family 35 (UDP-glucuronic acid/UDP-N-acetylgalactosamine dual transporter), member D1"""			11322953	Standard	NM_015139		Approved	UGTREL7, KIAA0260	uc001ddk.2	Q9NTN3	OTTHUMG00000009360	ENST00000235345.5:c.288C>G	1.37:g.67518490G>C						SLC35D1_uc010oph.1_Silent_p.V17V	p.V96V	NM_015139	NP_055954	Q9NTN3	S35D1_HUMAN			3	672	-			96					A8K185|B7Z3X2|Q52LU5|Q92548	Silent	SNP	ENST00000235345.5	37	c.288C>G	CCDS636.1																																																																																				0.393	SLC35D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025948.1		NM_015139		62	44	0	0	0	1	0	62	44		
CRYZ	1429	broad.mit.edu	37	1	75188928	75188928	+	Silent	SNP	A	A	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:75188928A>T	ENST00000340866.5	-	3	225	c.138T>A	c.(136-138)ggT>ggA	p.G46G	CRYZ_ENST00000417775.1_Silent_p.G46G|CRYZ_ENST00000370872.3_5'UTR|CRYZ_ENST00000370871.3_Silent_p.G46G	NM_001889.3	NP_001880.2	Q08257	QOR_HUMAN	crystallin, zeta (quinone reductase)	46					protein homotetramerization (GO:0051289)|visual perception (GO:0007601)|xenobiotic catabolic process (GO:0042178)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)	mRNA 3'-UTR binding (GO:0003730)|NADPH binding (GO:0070402)|NADPH:quinone reductase activity (GO:0003960)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)	10					Dicoumarol(DB00266)	CGGGGTTGACACCACATGCAT	0.428																																						uc001dgk.2		NaN																	0					0						c.(136-138)GGT>GGA		crystallin, zeta isoform a	Dicumarol(DB00266)						174.0	155.0	161.0					1																	75188928		2203	4300	6503	SO:0001819	synonymous_variant	1429				protein homotetramerization|visual perception|xenobiotic catabolic process	cytosol|Golgi apparatus	mRNA 3'-UTR binding|NADPH binding|NADPH:quinone reductase activity|zinc ion binding	g.chr1:75188928A>T		CCDS665.1, CCDS44162.1, CCDS44163.1	1p31.1	2013-02-14			ENSG00000116791	ENSG00000116791			2419	protein-coding gene	gene with protein product		123691					Standard	NM_001889		Approved		uc001dgj.3	Q08257	OTTHUMG00000009620	ENST00000340866.5:c.138T>A	1.37:g.75188928A>T						CRYZ_uc001dgj.2_Silent_p.G46G|CRYZ_uc001dgl.2_Silent_p.G46G|CRYZ_uc001dgm.2_5'UTR	p.G46G	NM_001130042	NP_001123514	Q08257	QOR_HUMAN			4	643	-			46					A6NN60|D3DQ76|Q53FT0|Q59EU7|Q5HYE7|Q6NSK9	Silent	SNP	ENST00000340866.5	37	c.138T>A	CCDS665.1																																																																																				0.428	CRYZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026514.1				64	38	0	0	0	1	0	64	38		
LMO4	8543	broad.mit.edu	37	1	87805743	87805743	+	Missense_Mutation	SNP	C	C	T	rs139269304		TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:87805743C>T	ENST00000370544.5	+	4	1127	c.347C>T	c.(346-348)tCt>tTt	p.S116F	LMO4_ENST00000489303.1_3'UTR|LMO4_ENST00000370542.1_Missense_Mutation_p.S116F	NM_006769.3	NP_006760.1	P61968	LMO4_HUMAN	LIM domain only 4	116	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				negative regulation of protein complex assembly (GO:0031333)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell activation (GO:0050865)|regulation of cell fate specification (GO:0042659)|spinal cord association neuron differentiation (GO:0021527)|spinal cord motor neuron differentiation (GO:0021522)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)|ventral spinal cord interneuron differentiation (GO:0021514)|ventricular septum development (GO:0003281)	transcription factor complex (GO:0005667)	enhancer sequence-specific DNA binding (GO:0001158)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(1)	9		Lung NSC(277;0.179)		all cancers(265;0.00456)|Epithelial(280;0.0148)|BRCA - Breast invasive adenocarcinoma(282;0.153)		TTTACATGCTCTACCTGCCGG	0.403													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20564	0.0		0.0	False		,,,				2504	0.0					uc001dmi.2		NaN																	0					0						c.(346-348)TCT>TTT		LIM domain only 4		C	PHE/SER	1,4405	2.1+/-5.4	0,1,2202	174.0	162.0	166.0		347	5.7	1.0	1	dbSNP_134	166	0,8600		0,0,4300	yes	missense	LMO4	NM_006769.3	155	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	116/166	87805743	1,13005	2203	4300	6503	SO:0001583	missense	8543				neural tube closure|transcription from RNA polymerase II promoter	transcription factor complex	sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	g.chr1:87805743C>T	U24576	CCDS713.1	1p22.3	2008-02-05			ENSG00000143013	ENSG00000143013			6644	protein-coding gene	gene with protein product		603129					Standard	NM_006769		Approved		uc001dmi.3	P61968	OTTHUMG00000010248	ENST00000370544.5:c.347C>T	1.37:g.87805743C>T	ENSP00000359575:p.Ser116Phe					LMO4_uc001dmj.2_Missense_Mutation_p.S116F	p.S116F	NM_006769	NP_006760	P61968	LMO4_HUMAN		all cancers(265;0.00456)|Epithelial(280;0.0148)|BRCA - Breast invasive adenocarcinoma(282;0.153)	4	1127	+		Lung NSC(277;0.179)	116			LIM zinc-binding 2.		D3DT23|O00158|O88894	Missense_Mutation	SNP	ENST00000370544.5	37	c.347C>T	CCDS713.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	8.262	0.811478	0.16537	2.27E-4	0.0	ENSG00000143013	ENST00000370544;ENST00000370542	D;D	0.88431	-2.38;-2.38	5.71	5.71	0.89125	Zinc finger, LIM-type (5);	0.000000	0.85682	D	0.000000	D	0.82637	0.5080	L	0.45285	1.41	0.80722	D	1	B	0.14012	0.009	B	0.10450	0.005	T	0.76950	-0.2769	10	0.54805	T	0.06	.	20.2245	0.98337	0.0:1.0:0.0:0.0	.	116	P61968	LMO4_HUMAN	F	116	ENSP00000359575:S116F;ENSP00000359573:S116F	ENSP00000359573:S116F	S	+	2	0	LMO4	87578331	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.861000	0.98227	0.650000	0.86243	TCT		0.403	LMO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028264.2		NM_006769		55	45	0	0	0	1	0	55	45		
RPAP2	79871	broad.mit.edu	37	1	92767046	92767046	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:92767046G>C	ENST00000610020.1	+	3	242	c.133G>C	c.(133-135)Gaa>Caa	p.E45Q	GLMN_ENST00000370360.3_5'Flank|GLMN_ENST00000534881.1_5'Flank|RPAP2_ENST00000484158.1_Intron	NM_024813.2	NP_079089.2	Q8IXW5	RPAP2_HUMAN	RNA polymerase II associated protein 2	45					dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)|snRNA transcription (GO:0009301)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nucleolus (GO:0005730)|nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	22		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)		AGCTGAACTAGAAGCAGCTGT	0.328																																						uc001dot.2		NaN																	0				ovary(1)	1						c.(133-135)GAA>CAA		RNA polymerase II associated protein 2							57.0	59.0	58.0					1																	92767046		2203	4297	6500	SO:0001583	missense	79871					integral to membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity	g.chr1:92767046G>C	AK023212	CCDS740.1	1p22.1	2014-01-28	2007-07-26	2007-07-26	ENSG00000122484	ENSG00000122484			25791	protein-coding gene	gene with protein product		611476	"""chromosome 1 open reading frame 82"""	C1orf82		17643375	Standard	NM_024813		Approved	FLJ13150	uc001dot.2	Q8IXW5	OTTHUMG00000010288	ENST00000610020.1:c.133G>C	1.37:g.92767046G>C	ENSP00000476948:p.Glu45Gln					RPAP2_uc009wdh.2_RNA|GLMN_uc001dor.2_5'Flank|GLMN_uc009wdg.2_5'Flank|GLMN_uc001dos.2_5'Flank	p.E45Q	NM_024813	NP_079089	Q8IXW5	RPAP2_HUMAN		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)	3	242	+		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)	45			Potential.		C9JKB5|Q49AS7|Q9H8Y2	Missense_Mutation	SNP	ENST00000610020.1	37	c.133G>C	CCDS740.1	.	.	.	.	.	.	.	.	.	.	G	14.86	2.660292	0.47572	.	.	ENSG00000122484	ENST00000370343;ENST00000394482	.	.	.	5.5	4.59	0.56863	.	0.105467	0.64402	D	0.000005	T	0.49423	0.1556	M	0.68952	2.095	0.24503	N	0.994247	P	0.48589	0.912	P	0.47673	0.554	T	0.53222	-0.8469	8	0.33141	T	0.24	-21.0683	14.2916	0.66281	0.0716:0.0:0.9284:0.0	.	45	Q8IXW5	RPAP2_HUMAN	Q	45	.	ENSP00000359368:E45Q	E	+	1	0	RPAP2	92539634	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.431000	0.73395	1.318000	0.45170	0.650000	0.86243	GAA		0.328	RPAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028368.2		NM_024813		17	24	0	0	0	1	0	17	24		
ABCA4	24	broad.mit.edu	37	1	94473258	94473258	+	Silent	SNP	T	T	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:94473258T>G	ENST00000370225.3	-	43	6023	c.5937A>C	c.(5935-5937)acA>acC	p.T1979T	ABCA4_ENST00000465352.1_5'UTR|ABCA4_ENST00000535881.1_Silent_p.T98T|ABCA4_ENST00000536513.1_Silent_p.T249T	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1979	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TGAATGTGGTTGTTTTGCCGG	0.547																																						uc001dqh.2		NaN																	0				ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1)	12						c.(5935-5937)ACA>ACC		ATP-binding cassette, sub-family A member 4							168.0	142.0	151.0					1																	94473258		2203	4300	6503	SO:0001819	synonymous_variant	24				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94473258T>G	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.5937A>C	1.37:g.94473258T>G						ABCA4_uc001dqi.1_Silent_p.T98T	p.T1979T	NM_000350	NP_000341	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	43	6041	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	1979			ABC transporter 2.|Cytoplasmic.|ATP 2 (Potential).		O15112|O60438|O60915|Q0QD48|Q4LE31	Silent	SNP	ENST00000370225.3	37	c.5937A>C	CCDS747.1																																																																																				0.547	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1		NM_000350		20	44	0	0	0	1	0	20	44		
ABCD3	5825	broad.mit.edu	37	1	94941201	94941201	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:94941201G>C	ENST00000370214.4	+	7	559	c.535G>C	c.(535-537)Gac>Cac	p.D179H	ABCD3_ENST00000394233.2_Missense_Mutation_p.D179H|ABCD3_ENST00000454898.2_Missense_Mutation_p.D203H|ABCD3_ENST00000315713.5_Missense_Mutation_p.D179H|ABCD3_ENST00000536817.1_Missense_Mutation_p.D106H	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D (ALD), member 3	179	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.|Interaction with PEX19.				ATP catabolic process (GO:0006200)|fatty acid beta-oxidation (GO:0006635)|peroxisome organization (GO:0007031)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		GGGGAATCTGGACAACAGAAT	0.303																																						uc001dqn.3		NaN																	0				skin(1)	1						c.(535-537)GAC>CAC		ATP-binding cassette, sub-family D, member 3							58.0	62.0	61.0					1																	94941201		2203	4296	6499	SO:0001583	missense	5825				peroxisomal long-chain fatty acid import|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94941201G>C	M81182	CCDS749.1, CCDS44175.1	1p21.3	2012-05-16			ENSG00000117528	ENSG00000117528		"""ATP binding cassette transporters / subfamily D"""	67	protein-coding gene	gene with protein product		170995		PXMP1		1301993, 8449508	Standard	NM_002858		Approved	PMP70, ZWS2	uc001dqn.4	P28288	OTTHUMG00000010717	ENST00000370214.4:c.535G>C	1.37:g.94941201G>C	ENSP00000359233:p.Asp179His					ABCD3_uc001dqm.3_Missense_Mutation_p.D179H|ABCD3_uc010oto.1_Missense_Mutation_p.D203H|ABCD3_uc010otp.1_Missense_Mutation_p.D106H|ABCD3_uc009wdr.2_Missense_Mutation_p.D179H	p.D179H	NM_002858	NP_002849	P28288	ABCD3_HUMAN		all cancers(265;0.0261)|Epithelial(280;0.165)	7	637	+		all_lung(203;0.000434)|Lung NSC(277;0.0019)	179			ABC transmembrane type-1.|Interaction with PEX19.		D3DT46|Q15271|Q6NUN5|Q96DA3|Q9H529	Missense_Mutation	SNP	ENST00000370214.4	37	c.535G>C	CCDS749.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.909049	0.92107	.	.	ENSG00000117528	ENST00000394233;ENST00000454898;ENST00000536817;ENST00000370214;ENST00000315713	D;D;D;D;D	0.99730	-3.8;-3.8;-3.8;-3.8;-6.56	5.38	5.38	0.77491	ABC transporter, N-terminal (1);ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);	0.000000	0.85682	D	0.000000	D	0.99806	0.9916	M	0.91196	3.185	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.97190	0.9857	10	0.87932	D	0	-16.2667	19.1298	0.93400	0.0:0.0:1.0:0.0	.	203;179;179;179	E7EUE1;P28288-2;P28288;P28288-3	.;.;ABCD3_HUMAN;.	H	179;203;106;179;179	ENSP00000377780:D179H;ENSP00000403357:D203H;ENSP00000440692:D106H;ENSP00000359233:D179H;ENSP00000326880:D179H	ENSP00000326880:D179H	D	+	1	0	ABCD3	94713789	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.470000	0.97683	2.517000	0.84864	0.655000	0.94253	GAC		0.303	ABCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029597.1		NM_002858		16	22	0	0	0	1	0	16	22		
COL11A1	1301	broad.mit.edu	37	1	103488306	103488306	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:103488306C>T	ENST00000370096.3	-	8	1549	c.1237G>A	c.(1237-1239)Gaa>Aaa	p.E413K	COL11A1_ENST00000512756.1_Intron|COL11A1_ENST00000358392.2_Missense_Mutation_p.E425K|COL11A1_ENST00000353414.4_Missense_Mutation_p.E374K	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	413	Nonhelical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ACGCTTGTTTCTGTAATATCA	0.328																																						uc001dul.2		NaN																	0		p.F413V(1)		ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12						c.(1237-1239)GAA>AAA		alpha 1 type XI collagen isoform A							99.0	98.0	98.0					1																	103488306		2203	4300	6503	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103488306C>T	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.1237G>A	1.37:g.103488306C>T	ENSP00000359114:p.Glu413Lys					COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dum.2_Missense_Mutation_p.E425K|COL11A1_uc001dun.2_Missense_Mutation_p.E374K|COL11A1_uc009weh.2_Intron	p.E413K	NM_001854	NP_001845	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	8	1555	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	413			Nonhelical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.1237G>A	CCDS778.1	.	.	.	.	.	.	.	.	.	.	C	15.85	2.954860	0.53293	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000427239	D;T;D;T	0.88046	-2.33;-0.54;-2.33;-0.53	5.41	5.41	0.78517	.	0.055076	0.64402	D	0.000001	D	0.82559	0.5063	M	0.82323	2.585	0.53688	D	0.999979	P;P;P	0.40476	0.718;0.718;0.596	B;B;B	0.38500	0.275;0.275;0.142	D	0.83390	0.0017	10	0.10902	T	0.67	.	17.3759	0.87391	0.0:1.0:0.0:0.0	.	374;425;413	P12107-3;P12107-2;P12107	.;.;COBA1_HUMAN	K	413;425;374;425	ENSP00000359114:E413K;ENSP00000351163:E425K;ENSP00000302551:E374K;ENSP00000408640:E425K	ENSP00000302551:E374K	E	-	1	0	COL11A1	103260894	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.665000	0.74442	2.519000	0.84933	0.643000	0.83706	GAA		0.328	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1		NM_080630		26	45	0	0	0	1	0	26	45		
KIAA1324	57535	broad.mit.edu	37	1	109715160	109715160	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:109715160G>T	ENST00000369939.3	+	5	849	c.666G>T	c.(664-666)aaG>aaT	p.K222N	KIAA1324_ENST00000529753.1_Missense_Mutation_p.K222N	NM_020775.4	NP_065826	Q6UXG2	K1324_HUMAN	KIAA1324	222					cellular response to starvation (GO:0009267)|macroautophagy (GO:0016236)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of autophagic vacuole assembly (GO:2000786)|positive regulation of vacuole organization (GO:0044090)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		GGTGGATGAAGACCACAGAGA	0.502																																						uc001dwq.2		NaN																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1)	5						c.(664-666)AAG>AAT		hypothetical protein LOC57535 precursor							77.0	74.0	75.0					1																	109715160		2203	4300	6503	SO:0001583	missense	57535				macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane		g.chr1:109715160G>T	AK057647	CCDS794.1, CCDS58015.1	1p13.3	2008-09-18			ENSG00000116299	ENSG00000116299			29618	protein-coding gene	gene with protein product	"""estrogen induced gene 121"""	611298				10718198, 16322283	Standard	NM_020775		Approved	maba1, EIG121	uc021orb.1	Q6UXG2	OTTHUMG00000011725	ENST00000369939.3:c.666G>T	1.37:g.109715160G>T	ENSP00000358955:p.Lys222Asn					KIAA1324_uc009wex.1_Missense_Mutation_p.K222N|KIAA1324_uc009wey.2_Missense_Mutation_p.K222N|KIAA1324_uc010ovg.1_Missense_Mutation_p.K120N	p.K222N	NM_020775	NP_065826	Q6UXG2	K1324_HUMAN		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)	6	802	+		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)	222			Extracellular (Potential).		Q08AE6|Q5T5C9|Q5T5D0|Q5T5D1|Q9P2M2	Missense_Mutation	SNP	ENST00000369939.3	37	c.666G>T	CCDS794.1	.	.	.	.	.	.	.	.	.	.	G	19.18	3.776940	0.70107	.	.	ENSG00000116299	ENST00000369939;ENST00000457623;ENST00000529753	T;T;T	0.44482	0.92;0.92;0.92	5.69	-3.57	0.04612	.	0.215337	0.47455	D	0.000226	T	0.24547	0.0595	L	0.47190	1.495	0.21950	N	0.999452	P;D;P;P	0.53462	0.554;0.96;0.554;0.554	B;P;B;B	0.50537	0.234;0.643;0.395;0.157	T	0.46400	-0.9194	10	0.36615	T	0.2	-0.1312	14.9332	0.70933	0.3507:0.0:0.6493:0.0	.	222;222;222;222	Q6UXG2-4;Q6UXG2-3;C9J810;Q6UXG2	.;.;.;K1324_HUMAN	N	222	ENSP00000358955:K222N;ENSP00000393964:K222N;ENSP00000434595:K222N	ENSP00000358955:K222N	K	+	3	2	KIAA1324	109516683	1.000000	0.71417	0.923000	0.36655	0.962000	0.63368	0.873000	0.28052	-0.972000	0.03559	-0.355000	0.07637	AAG		0.502	KIAA1324-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032389.2		NM_020775		8	30	1	0	0.0477658	1	0.0479071	8	30		
KIAA1324	57535	broad.mit.edu	37	1	109715167	109715167	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:109715167G>A	ENST00000369939.3	+	5	856	c.673G>A	c.(673-675)Gag>Aag	p.E225K	KIAA1324_ENST00000529753.1_Missense_Mutation_p.E225K	NM_020775.4	NP_065826	Q6UXG2	K1324_HUMAN	KIAA1324	225					cellular response to starvation (GO:0009267)|macroautophagy (GO:0016236)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of autophagic vacuole assembly (GO:2000786)|positive regulation of vacuole organization (GO:0044090)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		GAAGACCACAGAGAAAGGATG	0.512																																						uc001dwq.2		NaN																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1)	5						c.(673-675)GAG>AAG		hypothetical protein LOC57535 precursor							76.0	73.0	74.0					1																	109715167		2203	4300	6503	SO:0001583	missense	57535				macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane		g.chr1:109715167G>A	AK057647	CCDS794.1, CCDS58015.1	1p13.3	2008-09-18			ENSG00000116299	ENSG00000116299			29618	protein-coding gene	gene with protein product	"""estrogen induced gene 121"""	611298				10718198, 16322283	Standard	NM_020775		Approved	maba1, EIG121	uc021orb.1	Q6UXG2	OTTHUMG00000011725	ENST00000369939.3:c.673G>A	1.37:g.109715167G>A	ENSP00000358955:p.Glu225Lys					KIAA1324_uc009wex.1_Missense_Mutation_p.E225K|KIAA1324_uc009wey.2_Missense_Mutation_p.E225K|KIAA1324_uc010ovg.1_Missense_Mutation_p.E123K	p.E225K	NM_020775	NP_065826	Q6UXG2	K1324_HUMAN		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)	6	809	+		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)	225			Extracellular (Potential).		Q08AE6|Q5T5C9|Q5T5D0|Q5T5D1|Q9P2M2	Missense_Mutation	SNP	ENST00000369939.3	37	c.673G>A	CCDS794.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.071809	0.76301	.	.	ENSG00000116299	ENST00000369939;ENST00000457623;ENST00000529753	T;T;T	0.46451	0.87;0.87;0.87	5.69	5.69	0.88448	.	0.103148	0.64402	D	0.000003	T	0.37839	0.1018	L	0.48642	1.525	0.30175	N	0.800934	B;D;B;B	0.63880	0.136;0.993;0.136;0.136	B;P;B;B	0.58520	0.069;0.84;0.069;0.069	T	0.19128	-1.0315	10	0.12103	T	0.63	-22.5726	17.586	0.87981	0.0:0.0:1.0:0.0	.	225;225;225;225	Q6UXG2-4;Q6UXG2-3;C9J810;Q6UXG2	.;.;.;K1324_HUMAN	K	225	ENSP00000358955:E225K;ENSP00000393964:E225K;ENSP00000434595:E225K	ENSP00000358955:E225K	E	+	1	0	KIAA1324	109516690	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.856000	0.86956	2.678000	0.91216	0.650000	0.86243	GAG		0.512	KIAA1324-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032389.2		NM_020775		9	30	0	0	0	1	0	9	30		
AMPD2	271	broad.mit.edu	37	1	110163738	110163738	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:110163738G>A	ENST00000256578.3	+	1	463	c.103G>A	c.(103-105)Gag>Aag	p.E35K	AMPD2_ENST00000342115.4_Intron|AMPD2_ENST00000358729.4_Silent_p.Q3Q|AMPD2_ENST00000526301.1_Intron|AMPD2_ENST00000528454.1_5'Flank|AMPD2_ENST00000528667.1_Missense_Mutation_p.E35K	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2	35					cell death (GO:0008219)|cyclic purine nucleotide metabolic process (GO:0052652)|energy homeostasis (GO:0097009)|IMP biosynthetic process (GO:0006188)|IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		GGATGTGGCAGAGCCAGGCCC	0.687																																						uc009wfh.1		NaN																	0				ovary(2)|breast(1)	3						c.(103-105)GAG>AAG		adenosine monophosphate deaminase 2 (isoform L)							9.0	11.0	10.0					1																	110163738		2180	4265	6445	SO:0001583	missense	271				purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	g.chr1:110163738G>A	S47833	CCDS804.1, CCDS805.1, CCDS30796.1, CCDS58016.1	1p13.3	2014-03-03	2010-02-10		ENSG00000116337	ENSG00000116337	3.5.4.6		469	protein-coding gene	gene with protein product	"""AMPD isoform L"""	102771	"""adenosine monophosphate deaminase 2 (isoform L)"""			1400401, 24482476	Standard	NM_004037		Approved	SPG63	uc009wfh.2	Q01433	OTTHUMG00000011649	ENST00000256578.3:c.103G>A	1.37:g.110163738G>A	ENSP00000256578:p.Glu35Lys					AMPD2_uc009wfg.1_Intron|AMPD2_uc001dyb.1_Intron|AMPD2_uc001dyc.1_Missense_Mutation_p.E35K|AMPD2_uc010ovr.1_Silent_p.Q3Q|AMPD2_uc010ovs.1_5'Flank	p.E35K	NM_004037	NP_004028	Q01433	AMPD2_HUMAN		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)	2	645	+		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)	35					B4DK50|B4DZI5|E9PNG0|Q14856|Q14857|Q16686|Q16687|Q16688|Q16729|Q5T693|Q5T695|Q96IA1|Q9UDX8|Q9UDX9|Q9UMU4	Missense_Mutation	SNP	ENST00000256578.3	37	c.103G>A	CCDS805.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.08|17.08	3.297674|3.297674	0.60086|0.60086	.|.	.|.	ENSG00000116337|ENSG00000116337	ENST00000528667;ENST00000256578|ENST00000369840	D;D|.	0.86164|.	-2.08;-2.08|.	5.13|5.13	2.21|2.21	0.28008|0.28008	.|.	.|.	.|.	.|.	.|.	T|T	0.16642|0.16642	0.0400|0.0400	N|N	0.14661|0.14661	0.345|0.345	0.58432|0.58432	D|D	0.999999|0.999999	B|.	0.23058|.	0.079|.	B|.	0.17098|.	0.017|.	T|T	0.04976|0.04976	-1.0914|-1.0914	9|5	0.54805|.	T|.	0.06|.	-1.3081|-1.3081	5.5746|5.5746	0.17216|0.17216	0.2314:0.1449:0.6237:0.0|0.2314:0.1449:0.6237:0.0	.|.	35|.	Q01433|.	AMPD2_HUMAN|.	K|K	35|5	ENSP00000436541:E35K;ENSP00000256578:E35K|.	ENSP00000256578:E35K|.	E|R	+|+	1|2	0|0	AMPD2|AMPD2	109965261|109965261	0.057000|0.057000	0.20700|0.20700	0.542000|0.542000	0.28115|0.28115	0.936000|0.936000	0.57629|0.57629	1.327000|1.327000	0.33746|0.33746	0.190000|0.190000	0.20209|0.20209	0.313000|0.313000	0.20887|0.20887	GAG|AGA		0.687	AMPD2-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390615.1				4	4	0	0	0	1	0	4	4		
AMPD2	271	broad.mit.edu	37	1	110169425	110169425	+	Silent	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:110169425G>C	ENST00000256578.3	+	6	1131	c.771G>C	c.(769-771)ctG>ctC	p.L257L	AMPD2_ENST00000342115.4_Silent_p.L176L|AMPD2_ENST00000358729.4_Silent_p.L182L|AMPD2_ENST00000393688.3_Silent_p.L138L|AMPD2_ENST00000526301.1_3'UTR|RP5-1160K1.6_ENST00000369843.3_RNA|AMPD2_ENST00000528454.1_Silent_p.L139L|AMPD2_ENST00000528667.1_Silent_p.L257L	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2	257					cell death (GO:0008219)|cyclic purine nucleotide metabolic process (GO:0052652)|energy homeostasis (GO:0097009)|IMP biosynthetic process (GO:0006188)|IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		ACATGGCCCTGTCCCTGCAGA	0.622																																						uc009wfh.1		NaN																	0				ovary(2)|breast(1)	3						c.(769-771)CTG>CTC		adenosine monophosphate deaminase 2 (isoform L)							65.0	71.0	69.0					1																	110169425		2203	4300	6503	SO:0001819	synonymous_variant	271				purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	g.chr1:110169425G>C	S47833	CCDS804.1, CCDS805.1, CCDS30796.1, CCDS58016.1	1p13.3	2014-03-03	2010-02-10		ENSG00000116337	ENSG00000116337	3.5.4.6		469	protein-coding gene	gene with protein product	"""AMPD isoform L"""	102771	"""adenosine monophosphate deaminase 2 (isoform L)"""			1400401, 24482476	Standard	NM_004037		Approved	SPG63	uc009wfh.2	Q01433	OTTHUMG00000011649	ENST00000256578.3:c.771G>C	1.37:g.110169425G>C						AMPD2_uc009wfg.1_RNA|AMPD2_uc001dyb.1_Silent_p.L176L|AMPD2_uc001dyc.1_Silent_p.L257L|AMPD2_uc010ovr.1_Silent_p.L182L|AMPD2_uc010ovs.1_Silent_p.L139L|AMPD2_uc001dyd.1_Silent_p.L138L|AMPD2_uc001dye.1_5'Flank	p.L257L	NM_004037	NP_004028	Q01433	AMPD2_HUMAN		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)	7	1313	+		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)	257					B4DK50|B4DZI5|E9PNG0|Q14856|Q14857|Q16686|Q16687|Q16688|Q16729|Q5T693|Q5T695|Q96IA1|Q9UDX8|Q9UDX9|Q9UMU4	Silent	SNP	ENST00000256578.3	37	c.771G>C	CCDS805.1	.	.	.	.	.	.	.	.	.	.	G	9.996	1.232191	0.22626	.	.	ENSG00000116337	ENST00000369840	.	.	.	4.77	3.85	0.44370	.	.	.	.	.	T	0.44685	0.1305	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42949	-0.9421	4	.	.	.	-17.452	7.9323	0.29909	0.0873:0.0:0.7531:0.1597	.	.	.	.	L	228	.	.	V	+	1	0	AMPD2	109970948	0.669000	0.27502	0.997000	0.53966	0.993000	0.82548	0.618000	0.24373	1.192000	0.43071	0.462000	0.41574	GTC		0.622	AMPD2-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390615.1				10	46	0	0	0	1	0	10	46		
PTPN22	26191	broad.mit.edu	37	1	114402061	114402061	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:114402061T>C	ENST00000359785.5	-	2	244	c.109A>G	c.(109-111)Aag>Gag	p.K37E	AP4B1-AS1_ENST00000419536.1_RNA|PTPN22_ENST00000420377.2_Missense_Mutation_p.K37E|PTPN22_ENST00000528414.1_Missense_Mutation_p.K37E|PTPN22_ENST00000538253.1_5'UTR|PTPN22_ENST00000534519.1_5'UTR|PTPN22_ENST00000460620.1_Missense_Mutation_p.K37E|PTPN22_ENST00000525799.1_Missense_Mutation_p.K37E	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	37	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				negative regulation of T cell activation (GO:0050868)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphoanandamide dephosphorylation (GO:0035644)|protein dephosphorylation (GO:0006470)|regulation of B cell receptor signaling pathway (GO:0050855)|regulation of innate immune response (GO:0045088)|regulation of natural killer cell proliferation (GO:0032817)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	kinase binding (GO:0019900)|protein tyrosine phosphatase activity (GO:0004725)|SH3 domain binding (GO:0017124)			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCCTTGTACTTGGTAGATTGC	0.363																																						uc001eds.2		NaN																	0				kidney(2)|lung(1)|skin(1)	4						c.(109-111)AAG>GAG		protein tyrosine phosphatase, non-receptor type							157.0	157.0	157.0					1																	114402061		2203	4300	6503	SO:0001583	missense	26191				negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	kinase binding|protein tyrosine phosphatase activity|SH3 domain binding	g.chr1:114402061T>C	AF001846	CCDS863.1, CCDS864.1, CCDS864.2	1p13.2	2011-06-09	2005-02-02		ENSG00000134242	ENSG00000134242		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9652	protein-coding gene	gene with protein product		600716	"""protein tyrosine phosphatase, non-receptor type 8"""	PTPN8		10068674, 1373816	Standard	NM_015967		Approved	Lyp, Lyp1, Lyp2	uc001eds.3	Q9Y2R2	OTTHUMG00000011936	ENST00000359785.5:c.109A>G	1.37:g.114402061T>C	ENSP00000352833:p.Lys37Glu					uc001edv.1_Intron|PTPN22_uc009wgq.2_Missense_Mutation_p.K37E|PTPN22_uc010owo.1_5'UTR|PTPN22_uc001edt.2_Missense_Mutation_p.K37E|PTPN22_uc009wgr.2_Missense_Mutation_p.K37E|PTPN22_uc009wgs.2_Missense_Mutation_p.K37E|PTPN22_uc001edu.2_Missense_Mutation_p.K37E	p.K37E	NM_015967	NP_057051	Q9Y2R2	PTN22_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	2	239	-	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)	37			Tyrosine-protein phosphatase.		A0N0K6|B1ALC8|D4NZ71|E9PLD8|E9PPI1|O95063|O95064|Q6IPX8|Q8WVM1	Missense_Mutation	SNP	ENST00000359785.5	37	c.109A>G	CCDS863.1	.	.	.	.	.	.	.	.	.	.	T	27.7	4.857744	0.91433	.	.	ENSG00000134242	ENST00000460620;ENST00000359785;ENST00000528414;ENST00000420377;ENST00000525799;ENST00000354605	T;T;T;T;T	0.11169	2.8;3.57;2.8;3.45;2.98	5.16	5.16	0.70880	Protein-tyrosine phosphatase, receptor/non-receptor type (2);	0.051607	0.85682	D	0.000000	T	0.17577	0.0422	L	0.47190	1.495	0.80722	D	1	D;P;D;D;D;D	0.89917	0.986;0.645;0.973;1.0;0.984;1.0	P;B;P;D;P;D	0.81914	0.747;0.184;0.573;0.991;0.879;0.995	T	0.00766	-1.1575	10	0.87932	D	0	.	14.1155	0.65151	0.0:0.0:0.0:1.0	.	37;37;37;37;37;37	E9PPI1;E9PMT0;E9PLD8;G5E984;Q9Y2R2-5;Q9Y2R2	.;.;.;.;.;PTN22_HUMAN	E	37	ENSP00000433141:K37E;ENSP00000352833:K37E;ENSP00000435176:K37E;ENSP00000388229:K37E;ENSP00000432674:K37E	ENSP00000346621:K37E	K	-	1	0	PTPN22	114203584	1.000000	0.71417	0.962000	0.40283	0.933000	0.57130	7.245000	0.78237	2.078000	0.62432	0.460000	0.39030	AAG		0.363	PTPN22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033015.1		NM_015967		65	37	0	0	0	1	0	65	37		
TTF2	8458	broad.mit.edu	37	1	117617798	117617798	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:117617798G>C	ENST00000369466.4	+	5	636	c.592G>C	c.(592-594)Gag>Cag	p.E198Q		NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II	198					ATP catabolic process (GO:0006200)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		GAAGCAAGAAGAGGGAGCAGA	0.418																																						uc001egy.2		NaN																	0				ovary(1)	1						c.(592-594)GAG>CAG		transcription termination factor, RNA polymerase							90.0	94.0	93.0					1																	117617798		2203	4300	6503	SO:0001583	missense	8458				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding	g.chr1:117617798G>C	AF073771	CCDS892.1	1p13.1	2014-02-18			ENSG00000116830	ENSG00000116830			12398	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 6"""	604718				9748214	Standard	NM_003594		Approved	HuF2, ZGRF6	uc001egy.3	Q9UNY4	OTTHUMG00000012030	ENST00000369466.4:c.592G>C	1.37:g.117617798G>C	ENSP00000358478:p.Glu198Gln					TTF2_uc001egx.1_Missense_Mutation_p.E198Q	p.E198Q	NM_003594	NP_003585	Q9UNY4	TTF2_HUMAN		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)	5	612	+	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)	198					A8K4Q2|O75921|Q5T2K7|Q5VVU8|Q8N6I8	Missense_Mutation	SNP	ENST00000369466.4	37	c.592G>C	CCDS892.1	.	.	.	.	.	.	.	.	.	.	G	13.27	2.186386	0.38609	.	.	ENSG00000116830	ENST00000369466	D	0.87729	-2.29	5.86	-0.525	0.11917	.	0.575767	0.14549	N	0.312798	T	0.71978	0.3404	M	0.62723	1.935	0.09310	N	1	P;P	0.48162	0.906;0.886	B;B	0.42245	0.273;0.381	T	0.64537	-0.6384	10	0.45353	T	0.12	-11.0094	5.9041	0.18982	0.2846:0.243:0.4724:0.0	.	198;198	Q9UNY4;Q9UNY4-2	TTF2_HUMAN;.	Q	198	ENSP00000358478:E198Q	ENSP00000358478:E198Q	E	+	1	0	TTF2	117419321	0.201000	0.23410	0.001000	0.08648	0.096000	0.18686	0.768000	0.26590	-0.029000	0.13827	0.650000	0.86243	GAG		0.418	TTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033277.3				18	54	0	0	0	1	0	18	54		
FAM46C	54855	broad.mit.edu	37	1	118166265	118166265	+	Missense_Mutation	SNP	G	G	C	rs587778308		TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:118166265G>C	ENST00000369448.3	+	2	1022	c.775G>C	c.(775-777)Gac>Cac	p.D259H		NM_017709.3	NP_060179.2	Q5VWP2	FA46C_HUMAN	family with sequence similarity 46, member C	259										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	15	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)		CAGGCCCACAGACCAGGAAGA	0.512			"""Mis, F, O"""		MM					Multiple Myeloma(3;1.13e-06)																												uc001ehe.2		NaN		Rec	yes		1	1p12	54855		"""family with sequence similarity 46, member C"""			L					0					0						c.(775-777)GAC>CAC		hypothetical protein LOC54855							57.0	62.0	60.0					1																	118166265		2203	4300	6503	SO:0001583	missense	54855							g.chr1:118166265G>C	BC036516	CCDS896.1	1p12	2008-02-05			ENSG00000183508	ENSG00000183508			24712	protein-coding gene	gene with protein product		613952				12477932	Standard	NM_017709		Approved	FLJ20202	uc001ehe.3	Q5VWP2	OTTHUMG00000013703	ENST00000369448.3:c.775G>C	1.37:g.118166265G>C	ENSP00000358458:p.Asp259His	Multiple Myeloma(3;1.13e-06)					p.D259H	NM_017709	NP_060179	Q5VWP2	FA46C_HUMAN		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)	2	974	+	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)	259					A3KMG2|Q8NE25|Q9NXK0	Missense_Mutation	SNP	ENST00000369448.3	37	c.775G>C	CCDS896.1	.	.	.	.	.	.	.	.	.	.	G	14.32	2.501731	0.44455	.	.	ENSG00000183508	ENST00000369448	T	0.23147	1.92	5.71	4.8	0.61643	Domain of unknown function DUF1693 (1);	0.257927	0.32819	N	0.005617	T	0.25082	0.0609	M	0.66939	2.045	0.58432	D	0.999999	B	0.26577	0.153	B	0.41332	0.354	T	0.10497	-1.0627	10	0.54805	T	0.06	-4.1568	13.5299	0.61615	0.0747:0.0:0.9253:0.0	.	259	Q5VWP2	FA46C_HUMAN	H	259	ENSP00000358458:D259H	ENSP00000358458:D259H	D	+	1	0	FAM46C	117967788	0.996000	0.38824	0.881000	0.34555	0.906000	0.53458	2.442000	0.44873	1.410000	0.46936	0.561000	0.74099	GAC		0.512	FAM46C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038424.1		NM_017709		16	52	0	0	0	1	0	16	52		
NOTCH2	4853	broad.mit.edu	37	1	120539792	120539792	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:120539792C>T	ENST00000256646.2	-	4	798	c.579G>A	c.(577-579)caG>caA	p.Q193Q	NOTCH2_ENST00000602566.1_Silent_p.Q154Q	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	193	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGCCACCATGCTGGCAGTGTC	0.567			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																													uc001eik.2		NaN		Dom	yes		1	1p13-p11	4853	N|F|Mis	Notch homolog 2			L			marginal zone lymphoma|DLBCL		0				lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27						c.(577-579)CAG>CAA		notch 2 preproprotein							61.0	49.0	53.0					1																	120539792		2203	4297	6500	SO:0001819	synonymous_variant	4853	Alagille_Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	g.chr1:120539792C>T	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.579G>A	1.37:g.120539792C>T						NOTCH2_uc001eil.2_Silent_p.Q193Q|NOTCH2_uc001eim.3_Silent_p.Q110Q	p.Q193Q	NM_024408	NP_077719	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	4	835	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	193			Extracellular (Potential).|EGF-like 5; calcium-binding (Potential).		Q5T3X7|Q99734|Q9H240	Silent	SNP	ENST00000256646.2	37	c.579G>A	CCDS908.1																																																																																				0.567	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1		NM_024408		13	103	0	0	0	1	0	13	103		
NOTCH2	4853	broad.mit.edu	37	1	120539834	120539834	+	Silent	SNP	A	A	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:120539834A>G	ENST00000256646.2	-	4	756	c.537T>C	c.(535-537)tgT>tgC	p.C179C	NOTCH2_ENST00000602566.1_Silent_p.C140C	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	179	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)	p.C179*(1)|p.C140*(1)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CATCAGTCTCACATTTCTGCC	0.552			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																													uc001eik.2		NaN		Dom	yes		1	1p13-p11	4853	N|F|Mis	Notch homolog 2			L			marginal zone lymphoma|DLBCL		2	Substitution - Nonsense(2)		prostate(2)	lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27						c.(535-537)TGT>TGC		notch 2 preproprotein							115.0	89.0	98.0					1																	120539834		2202	4300	6502	SO:0001819	synonymous_variant	4853	Alagille_Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	g.chr1:120539834A>G	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.537T>C	1.37:g.120539834A>G						NOTCH2_uc001eil.2_Silent_p.C179C|NOTCH2_uc001eim.3_Silent_p.C96C	p.C179C	NM_024408	NP_077719	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	4	793	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	179			Extracellular (Potential).|EGF-like 4.		Q5T3X7|Q99734|Q9H240	Silent	SNP	ENST00000256646.2	37	c.537T>C	CCDS908.1																																																																																				0.552	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1		NM_024408		15	116	0	0	0	1	0	15	116		
PRKAB2	5565	broad.mit.edu	37	1	146639436	146639436	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:146639436G>T	ENST00000254101.3	-	3	371	c.233C>A	c.(232-234)cCc>cAc	p.P78H	PRKAB2_ENST00000425272.2_Intron	NM_005399.3	NP_005390.1	O43741	AAKB2_HUMAN	protein kinase, AMP-activated, beta 2 non-catalytic subunit	78					carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|insulin receptor signaling pathway (GO:0008286)|membrane organization (GO:0061024)|protein phosphorylation (GO:0006468)|regulation of fatty acid biosynthetic process (GO:0042304)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)	identical protein binding (GO:0042802)			NS(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.0487)				Acetylsalicylic acid(DB00945)|Adenosine monophosphate(DB00131)	GATAACAGTGGGCCGGGCCTG	0.527																																						uc001epe.2		NaN																	0				lung(2)|skin(1)	3						c.(232-234)CCC>CAC		AMP-activated protein kinase beta 2	Adenosine monophosphate(DB00131)						204.0	210.0	208.0					1																	146639436		2203	4300	6503	SO:0001583	missense	5565				carnitine shuttle|cell cycle arrest|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm		g.chr1:146639436G>T	BC053610	CCDS925.1	1q21.2	2008-02-05			ENSG00000131791	ENSG00000131791			9379	protein-coding gene	gene with protein product	"""AMPK beta 2"""	602741				8557660	Standard	NM_005399		Approved		uc001epe.3	O43741	OTTHUMG00000014032	ENST00000254101.3:c.233C>A	1.37:g.146639436G>T	ENSP00000254101:p.Pro78His					PRKAB2_uc010ozm.1_Intron|PRKAB2_uc010ozn.1_Intron|PRKAB2_uc009wjf.1_Missense_Mutation_p.P78H	p.P78H	NM_005399	NP_005390	O43741	AAKB2_HUMAN			3	378	-	all_hematologic(923;0.0487)		78					A8K9V5|B4DH06|Q5VXY0	Missense_Mutation	SNP	ENST00000254101.3	37	c.233C>A	CCDS925.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.925573	0.92319	.	.	ENSG00000131791	ENST00000254101	.	.	.	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.82199	0.4985	M	0.87381	2.88	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.84727	0.0743	9	0.87932	D	0	.	17.4083	0.87479	0.0:0.0:1.0:0.0	.	78	O43741	AAKB2_HUMAN	H	78	.	ENSP00000254101:P78H	P	-	2	0	PRKAB2	145106060	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.709000	0.92574	0.655000	0.94253	CCC		0.527	PRKAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039471.1		NM_005399		92	166	1	0	2.48941e-46	1	2.82244e-46	92	166		
PRKAB2	5565	broad.mit.edu	37	1	146639438	146639438	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:146639438C>T	ENST00000254101.3	-	3	369	c.231G>A	c.(229-231)cgG>cgA	p.R77R	PRKAB2_ENST00000425272.2_Intron	NM_005399.3	NP_005390.1	O43741	AAKB2_HUMAN	protein kinase, AMP-activated, beta 2 non-catalytic subunit	77					carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|insulin receptor signaling pathway (GO:0008286)|membrane organization (GO:0061024)|protein phosphorylation (GO:0006468)|regulation of fatty acid biosynthetic process (GO:0042304)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)	identical protein binding (GO:0042802)	p.R77R(1)		NS(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.0487)				Acetylsalicylic acid(DB00945)|Adenosine monophosphate(DB00131)	TAACAGTGGGCCGGGCCTGCT	0.522																																						uc001epe.2		NaN																	1	Substitution - coding silent(1)		lung(1)	lung(2)|skin(1)	3						c.(229-231)CGG>CGA		AMP-activated protein kinase beta 2	Adenosine monophosphate(DB00131)						204.0	209.0	207.0					1																	146639438		2203	4300	6503	SO:0001819	synonymous_variant	5565				carnitine shuttle|cell cycle arrest|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm		g.chr1:146639438C>T	BC053610	CCDS925.1	1q21.2	2008-02-05			ENSG00000131791	ENSG00000131791			9379	protein-coding gene	gene with protein product	"""AMPK beta 2"""	602741				8557660	Standard	NM_005399		Approved		uc001epe.3	O43741	OTTHUMG00000014032	ENST00000254101.3:c.231G>A	1.37:g.146639438C>T						PRKAB2_uc010ozm.1_Intron|PRKAB2_uc010ozn.1_Intron|PRKAB2_uc009wjf.1_Silent_p.R77R	p.R77R	NM_005399	NP_005390	O43741	AAKB2_HUMAN			3	376	-	all_hematologic(923;0.0487)		77					A8K9V5|B4DH06|Q5VXY0	Silent	SNP	ENST00000254101.3	37	c.231G>A	CCDS925.1																																																																																				0.522	PRKAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039471.1		NM_005399		90	161	0	0	0	1	0	90	161		
PLEKHO1	51177	broad.mit.edu	37	1	150129184	150129184	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:150129184G>A	ENST00000369124.4	+	4	676	c.398G>A	c.(397-399)cGa>cAa	p.R133Q	PLEKHO1_ENST00000025469.6_Missense_Mutation_p.R133Q|PLEKHO1_ENST00000479194.1_3'UTR|PLEKHO1_ENST00000369126.1_5'UTR	NM_016274.4	NP_057358.2	Q53GL0	PKHO1_HUMAN	pleckstrin homology domain containing, family O member 1	133	Interaction with capping proteins (CPs).					cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	22	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCCATCACCCGAGCCAAGAAC	0.587																																						uc001ett.2		NaN																	0				lung(1)	1						c.(397-399)CGA>CAA		pleckstrin homology domain containing, family O							90.0	86.0	88.0					1																	150129184		2203	4300	6503	SO:0001583	missense	51177					cytoplasm|nucleus|plasma membrane		g.chr1:150129184G>A	AF073836	CCDS945.1	1q21.2	2013-01-10			ENSG00000023902	ENSG00000023902		"""Pleckstrin homology (PH) domain containing"""	24310	protein-coding gene	gene with protein product		608335				10799509	Standard	NM_016274		Approved	CKIP-1, OC120	uc001ett.3	Q53GL0	OTTHUMG00000012510	ENST00000369124.4:c.398G>A	1.37:g.150129184G>A	ENSP00000358120:p.Arg133Gln					PLEKHO1_uc001etr.2_5'UTR|PLEKHO1_uc001ets.2_5'UTR|PLEKHO1_uc001etu.2_5'UTR	p.R133Q	NM_016274	NP_057358	Q53GL0	PKHO1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		4	676	+	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		133	R->E: No effect on binding to capping proteins; when associated with E-135.|R->A: No effect on binding to capping proteins and loss of phospholipid binding; when associated with A-135 and A-137.		Interaction with capping proteins (CPs).		Q336K5|Q8IZ51|Q9NRV3|Q9UL48	Missense_Mutation	SNP	ENST00000369124.4	37	c.398G>A	CCDS945.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.70|15.70	2.910010|2.910010	0.52439|0.52439	.|.	.|.	ENSG00000023902|ENSG00000023902	ENST00000441340|ENST00000025469;ENST00000369124	.|T;T	.|0.22539	.|1.95;1.95	4.7|4.7	4.7|4.7	0.59300|0.59300	.|Pleckstrin homology-type (1);Pleckstrin homology domain (1);	.|0.059993	.|0.64402	.|D	.|0.000003	T|T	0.31136|0.31136	0.0787|0.0787	M|M	0.70275|0.70275	2.135|2.135	0.49915|0.49915	D|D	0.999832|0.999832	.|D	.|0.71674	.|0.998	.|P	.|0.55999	.|0.789	T|T	0.04053|0.04053	-1.0981|-1.0981	6|10	0.87932|0.51188	D|T	0|0.08	-8.6365|-8.6365	17.1577|17.1577	0.86795|0.86795	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|133	.|Q53GL0	.|PKHO1_HUMAN	K|Q	9|133	.|ENSP00000025469:R133Q;ENSP00000358120:R133Q	ENSP00000409060:E9K|ENSP00000025469:R133Q	E|R	+|+	1|2	0|0	PLEKHO1|PLEKHO1	148395808|148395808	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	4.718000|4.718000	0.61930|0.61930	2.599000|2.599000	0.87857|0.87857	0.561000|0.561000	0.74099|0.74099	GAG|CGA		0.587	PLEKHO1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034962.1		NM_016274		11	77	0	0	0	1	0	11	77		
APH1A	51107	broad.mit.edu	37	1	150240428	150240428	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:150240428G>A	ENST00000369109.3	-	2	401	c.213C>T	c.(211-213)ctC>ctT	p.L71L	APH1A_ENST00000461320.1_Intron|APH1A_ENST00000414276.2_Intron|C1orf54_ENST00000369102.1_5'Flank|APH1A_ENST00000360244.4_Silent_p.L71L	NM_001077628.2	NP_001071096.1	Q96BI3	APH1A_HUMAN	APH1A gamma secretase subunit	71					amyloid precursor protein catabolic process (GO:0042987)|apoptotic signaling pathway (GO:0097190)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|metanephros development (GO:0001656)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|protein processing (GO:0016485)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase activity (GO:0004175)			breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	9	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CAAAAATCAGGAGGCCGTACT	0.557																																						uc001ety.1		NaN																	0				ovary(1)|lung(1)	2						c.(211-213)CTC>CTT		anterior pharynx defective 1 homolog A isoform							78.0	86.0	83.0					1																	150240428		1961	4145	6106	SO:0001819	synonymous_variant	51107				amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to plasma membrane	protein binding	g.chr1:150240428G>A	AF151835	CCDS41390.1, CCDS41391.1, CCDS58025.1	1q21.2	2013-05-01	2013-05-01		ENSG00000117362	ENSG00000117362			29509	protein-coding gene	gene with protein product		607629	"""anterior pharynx defective 1 homolog A (C. elegans)"""			10810093, 12110170	Standard	NM_001077628		Approved	APH-1A, CGI-78	uc001ety.2	Q96BI3	OTTHUMG00000012545	ENST00000369109.3:c.213C>T	1.37:g.150240428G>A						APH1A_uc010pbx.1_Intron|APH1A_uc001etz.1_Silent_p.L71L|APH1A_uc001eua.1_Silent_p.L71L|APH1A_uc010pby.1_Intron|APH1A_uc001eub.1_Intron|APH1A_uc010pbz.1_Intron	p.L71L	NM_001077628	NP_001071096	Q96BI3	APH1A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	535	-	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		71			Helical; Name=3; (Potential).		B4DQK0|Q5TB22|Q5TB23|Q969R6|Q9BVG0|Q9Y386	Silent	SNP	ENST00000369109.3	37	c.213C>T	CCDS41390.1																																																																																				0.557	APH1A-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000035048.1		NM_016022		20	115	0	0	0	1	0	20	115		
HORMAD1	84072	broad.mit.edu	37	1	150689625	150689625	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:150689625C>G	ENST00000361824.2	-	3	272	c.167G>C	c.(166-168)aGa>aCa	p.R56T	HORMAD1_ENST00000368995.4_Missense_Mutation_p.K6N|HORMAD1_ENST00000322343.7_Missense_Mutation_p.R56T|HORMAD1_ENST00000368993.2_Missense_Mutation_p.R56T|HORMAD1_ENST00000476530.1_5'UTR	NM_032132.4	NP_115508.2	Q86X24	HORM1_HUMAN	HORMA domain containing 1	56	HORMA. {ECO:0000255|PROSITE- ProRule:PRU00109}.				blastocyst development (GO:0001824)|meiotic DNA double-strand break formation (GO:0042138)|meiotic nuclear division (GO:0007126)|meiotic recombination checkpoint (GO:0051598)|meiotic sister chromatid cohesion (GO:0051177)|oogenesis (GO:0048477)|regulation of homologous chromosome segregation (GO:0060629)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(3)	16	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			ATCTAGATATCTTGTTCCATA	0.318																																						uc001evk.1		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(166-168)AGA>ACA		HORMA domain containing 1							76.0	75.0	75.0					1																	150689625		2203	4300	6503	SO:0001583	missense	84072				blastocyst development|cell differentiation|meiotic DNA double-strand break formation|meiotic recombination checkpoint|meiotic sister chromatid cohesion|mitosis|oogenesis|regulation of homologous chromosome segregation|spermatogenesis|synaptonemal complex assembly	chromosome|nucleus		g.chr1:150689625C>G	AL136755	CCDS967.1, CCDS55633.1	1q21.2	2009-03-09			ENSG00000143452	ENSG00000143452			25245	protein-coding gene	gene with protein product	"""cancer/testis antigen 46"""	609824				11230166, 15999985	Standard	NM_032132		Approved	DKFZP434A1315, CT46	uc001evk.2	Q86X24	OTTHUMG00000035005	ENST00000361824.2:c.167G>C	1.37:g.150689625C>G	ENSP00000355167:p.Arg56Thr					HORMAD1_uc001evl.1_Missense_Mutation_p.R56T|HORMAD1_uc001evm.1_Missense_Mutation_p.K6N	p.R56T	NM_032132	NP_115508	Q86X24	HORM1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)		3	273	-	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		56			HORMA.		A6NMK2|B3KUK1|Q4G114|Q5T5I3|Q5T5I4|Q5T5I5|Q6FIC1|Q9H0K8	Missense_Mutation	SNP	ENST00000361824.2	37	c.167G>C	CCDS967.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.5|20.5	4.001540|4.001540	0.74818|0.74818	.|.	.|.	ENSG00000143452|ENSG00000143452	ENST00000368995;ENST00000368992;ENST00000540570;ENST00000368987;ENST00000442853|ENST00000368993;ENST00000322343;ENST00000361824	T|T;T;T	0.50813|0.38722	0.73|1.12;1.19;1.13	5.46|5.46	5.46|5.46	0.80206|0.80206	.|DNA-binding HORMA (4);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.56470|0.56470	0.1987|0.1987	M|M	0.64080|0.64080	1.96|1.96	0.47341|0.47341	D|D	0.999398|0.999398	B|D;D	0.22211|0.89917	0.066|1.0;1.0	B|D;D	0.21708|0.87578	0.036|0.998;0.995	T|T	0.56944|0.56944	-0.7895|-0.7895	9|10	0.41790|0.54805	T|T	0.15|0.06	-30.5138|-30.5138	17.8768|17.8768	0.88827|0.88827	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	6|56;56	Q86X24-4|Q86X24-2;Q86X24	.|.;HORM1_HUMAN	N|T	6|56	ENSP00000357991:K6N|ENSP00000357989:R56T;ENSP00000326489:R56T;ENSP00000355167:R56T	ENSP00000357983:K6N|ENSP00000326489:R56T	K|R	-|-	3|2	2|0	HORMAD1|HORMAD1	148956249|148956249	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	3.645000|3.645000	0.54389|0.54389	2.554000|2.554000	0.86153|0.86153	0.460000|0.460000	0.39030|0.39030	AAG|AGA		0.318	HORMAD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084722.1		NM_032132		25	127	0	0	0	1	0	25	127		
SEMA6C	10500	broad.mit.edu	37	1	151108989	151108989	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:151108989G>C	ENST00000341697.3	-	12	2732	c.1041C>G	c.(1039-1041)ttC>ttG	p.F347L				Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	347	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TCTGCTCCTTGAACTTGCCCT	0.567																																						uc001ewu.2		NaN																	0				ovary(1)|skin(1)	2						c.(1039-1041)TTC>TTG		semaphorin Y precursor							133.0	135.0	135.0					1																	151108989		2203	4300	6503	SO:0001583	missense	10500					integral to membrane	receptor activity	g.chr1:151108989G>C	AF339154	CCDS984.1, CCDS53363.1, CCDS53364.1	1q21.2	2008-02-05			ENSG00000143434	ENSG00000143434		"""Semaphorins"""	10740	protein-coding gene	gene with protein product	"""m-Sema Y2"""	609294				12110693	Standard	NM_030913		Approved	KIAA1869	uc001ewv.3	Q9H3T2	OTTHUMG00000012261	ENST00000341697.3:c.1041C>G	1.37:g.151108989G>C	ENSP00000344148:p.Phe347Leu					SEMA6C_uc001ewv.2_Missense_Mutation_p.F347L|SEMA6C_uc001eww.2_Missense_Mutation_p.F307L|SEMA6C_uc010pcq.1_Missense_Mutation_p.F347L	p.F347L	NM_030913	NP_112175	Q9H3T2	SEM6C_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		12	1341	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		347			Extracellular (Potential).|Sema.		D3DV15|Q5JR71|Q5JR72|Q5JR73|Q8WXT8|Q8WXT9|Q8WXU0|Q96JF8	Missense_Mutation	SNP	ENST00000341697.3	37	c.1041C>G	CCDS984.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.386805	0.82902	.	.	ENSG00000143434	ENST00000368914;ENST00000368912;ENST00000368913;ENST00000341697;ENST00000392792	T;T;T;T	0.24350	1.86;1.86;1.86;1.86	4.71	4.71	0.59529	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.48040	0.1478	M	0.93106	3.38	0.50313	D	0.999865	D;D;D;D	0.71674	0.998;0.982;0.997;0.993	D;D;D;D	0.72075	0.955;0.961;0.949;0.976	T	0.57894	-0.7732	10	0.72032	D	0.01	.	8.7109	0.34382	0.1009:0.0:0.8991:0.0	.	347;307;347;347	B4DZD4;Q9H3T2-2;Q9H3T2-3;Q9H3T2	.;.;.;SEM6C_HUMAN	L	347;307;347;347;347	ENSP00000357910:F347L;ENSP00000357908:F307L;ENSP00000357909:F347L;ENSP00000344148:F347L	ENSP00000344148:F347L	F	-	3	2	SEMA6C	149375613	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.379000	0.34340	2.444000	0.82710	0.491000	0.48974	TTC		0.567	SEMA6C-004	KNOWN	alternative_5_UTR|mRNA_start_NF|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034074.1		NM_030913		43	204	0	0	0	1	0	43	204		
FLG	2312	broad.mit.edu	37	1	152279938	152279938	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:152279938C>G	ENST00000368799.1	-	3	7459	c.7424G>C	c.(7423-7425)gGa>gCa	p.G2475A	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2475	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.G2475A(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTAGTGGGATCCCTGCCTTCC	0.577									Ichthyosis																													uc001ezu.1		NaN																	1	Substitution - Missense(1)		kidney(1)	ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(7423-7425)GGA>GCA		filaggrin							368.0	340.0	349.0					1																	152279938		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152279938C>G	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.7424G>C	1.37:g.152279938C>G	ENSP00000357789:p.Gly2475Ala						p.G2475A	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	7460	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2475			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.7424G>C	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	10.04	1.241438	0.22711	.	.	ENSG00000143631	ENST00000368799	T	0.07114	3.22	3.41	-0.305	0.12784	.	.	.	.	.	T	0.05914	0.0154	M	0.82517	2.595	0.09310	N	1	D	0.55172	0.97	P	0.48704	0.587	T	0.28522	-1.0041	9	0.22109	T	0.4	.	6.3157	0.21188	0.0:0.5924:0.0:0.4076	.	2475	P20930	FILA_HUMAN	A	2475	ENSP00000357789:G2475A	ENSP00000357789:G2475A	G	-	2	0	FLG	150546562	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-3.244000	0.00542	0.000000	0.14550	0.306000	0.20318	GGA		0.577	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1		NM_002016		136	337	0	0	0	1	0	136	337		
FLG	2312	broad.mit.edu	37	1	152281452	152281452	+	Silent	SNP	A	A	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:152281452A>T	ENST00000368799.1	-	3	5945	c.5910T>A	c.(5908-5910)tcT>tcA	p.S1970S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1970	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGCTGTCTGCAGAGTGCCCGT	0.557									Ichthyosis																													uc001ezu.1		NaN																	0				ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(5908-5910)TCT>TCA		filaggrin							387.0	339.0	355.0					1																	152281452		2203	4300	6503	SO:0001819	synonymous_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152281452A>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.5910T>A	1.37:g.152281452A>T							p.S1970S	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5946	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1970			Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.5910T>A	CCDS30860.1																																																																																				0.557	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1		NM_002016		106	569	0	0	0	1	0	106	569		
FLG	2312	broad.mit.edu	37	1	152283396	152283396	+	Silent	SNP	A	A	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:152283396A>T	ENST00000368799.1	-	3	4001	c.3966T>A	c.(3964-3966)tcT>tcA	p.S1322S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1322	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGCTGTCTGCAGAGTGCCCGT	0.527									Ichthyosis																													uc001ezu.1		NaN																	0				ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(3964-3966)TCT>TCA		filaggrin							262.0	248.0	253.0					1																	152283396		2203	4300	6503	SO:0001819	synonymous_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152283396A>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.3966T>A	1.37:g.152283396A>T						uc001ezv.2_5'Flank	p.S1322S	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	4002	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1322			Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.3966T>A	CCDS30860.1																																																																																				0.527	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1		NM_002016		14	302	0	0	0	1	0	14	302		
S100A8	6279	broad.mit.edu	37	1	153362985	153362985	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:153362985C>G	ENST00000368733.3	-	2	196	c.27G>C	c.(25-27)ttG>ttC	p.L9F	S100A8_ENST00000368732.1_Missense_Mutation_p.L9F|S100A8_ENST00000477801.1_5'UTR	NM_002964.4	NP_002955.2	P05109	S10A8_HUMAN	S100 calcium binding protein A8	9					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|acute inflammatory response (GO:0002526)|autophagy (GO:0006914)|chemokine production (GO:0032602)|chronic inflammatory response (GO:0002544)|cytokine production (GO:0001816)|defense response to bacterium (GO:0042742)|defense response to fungus (GO:0050832)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukocyte migration involved in inflammatory response (GO:0002523)|neutrophil aggregation (GO:0070488)|neutrophil chemotaxis (GO:0030593)|positive regulation of cell growth (GO:0030307)|positive regulation of inflammatory response (GO:0050729)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|regulation of cytoskeleton organization (GO:0051493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to zinc ion (GO:0010043)|sequestering of zinc ion (GO:0032119)|wound healing (GO:0042060)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	arachidonic acid binding (GO:0050544)|calcium ion binding (GO:0005509)|microtubule binding (GO:0008017)|RAGE receptor binding (GO:0050786)|Toll-like receptor 4 binding (GO:0035662)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|lung(1)|urinary_tract(1)	4	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGATAGAGTTCAAGGCTTTCT	0.507																																						uc001fbs.2		NaN																	0					0						c.(25-27)TTG>TTC		S100 calcium-binding protein A8							181.0	180.0	180.0					1																	153362985		2203	4300	6503	SO:0001583	missense	6279				chemotaxis	cytoplasm|cytoskeleton|plasma membrane	calcium ion binding|protein binding	g.chr1:153362985C>G	BC005928	CCDS1038.1	1q12-q22	2013-01-10	2006-09-11		ENSG00000143546	ENSG00000143546		"""S100 calcium binding proteins"", ""EF-hand domain containing"""	10498	protein-coding gene	gene with protein product		123885	"""S100 calcium-binding protein A8 (calgranulin A)"", ""S100 calcium binding protein A8 (calgranulin A)"""	CAGA, CFAG			Standard	NM_002964		Approved	P8, MRP8, 60B8AG, CGLA	uc001fbs.3	P05109	OTTHUMG00000013124	ENST00000368733.3:c.27G>C	1.37:g.153362985C>G	ENSP00000357722:p.Leu9Phe						p.L9F	NM_002964	NP_002955	P05109	S10A8_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	82	-	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		9					A8K5L3|D3DV37|Q5SY70|Q9UC84|Q9UC92|Q9UCJ0|Q9UCM6	Missense_Mutation	SNP	ENST00000368733.3	37	c.27G>C	CCDS1038.1	.	.	.	.	.	.	.	.	.	.	.	15.38	2.815552	0.50527	.	.	ENSG00000143546	ENST00000368733;ENST00000368732	T;T	0.13307	2.6;2.6	4.17	-8.34	0.00988	S100/CaBP-9k-type, calcium binding, subdomain (1);EF-hand-like domain (1);	0.241231	0.33253	N	0.005116	T	0.06554	0.0168	.	.	.	0.09310	N	1	D	0.54772	0.968	P	0.57620	0.824	T	0.03212	-1.1060	9	0.72032	D	0.01	.	0.8297	0.01128	0.2124:0.1562:0.3151:0.3163	.	9	P05109	S10A8_HUMAN	F	9	ENSP00000357722:L9F;ENSP00000357721:L9F	ENSP00000357721:L9F	L	-	3	2	S100A8	151629609	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-2.994000	0.00656	-1.912000	0.01081	-0.145000	0.13849	TTG		0.507	S100A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036791.1		NM_002964		53	223	0	0	0	1	0	53	223		
ILF2	3608	broad.mit.edu	37	1	153638142	153638142	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:153638142C>T	ENST00000361891.4	-	7	582	c.457G>A	c.(457-459)Gaa>Aaa	p.E153K	ILF2_ENST00000480213.1_5'Flank	NM_001267809.1|NM_004515.3	NP_001254738.1|NP_004506.2	Q12905	ILF2_HUMAN	interleukin enhancer binding factor 2	153	DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}.				immune response (GO:0006955)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|transferase activity (GO:0016740)			cervix(1)|kidney(1)|lung(4)|skin(1)	7	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGCAAACCTTCAGAAGGATCC	0.388																																						uc001fcr.2		NaN																	0					0						c.(457-459)GAA>AAA		interleukin enhancer binding factor 2							120.0	108.0	112.0					1																	153638142		2203	4300	6503	SO:0001583	missense	3608				immune response|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|ribonucleoprotein complex	ATP binding|DNA binding|double-stranded RNA binding|protein binding|transferase activity	g.chr1:153638142C>T	U10323	CCDS1050.1, CCDS72919.1	1q21.3	2012-12-04	2012-12-04		ENSG00000143621	ENSG00000143621			6037	protein-coding gene	gene with protein product		603181	"""interleukin enhancer binding factor 2, 45kD"", ""interleukin enhancer binding factor 2, 45kDa"""			7519613	Standard	NM_004515		Approved	NF45	uc001fcr.4	Q12905	OTTHUMG00000037087	ENST00000361891.4:c.457G>A	1.37:g.153638142C>T	ENSP00000355011:p.Glu153Lys					ILF2_uc010pdy.1_Missense_Mutation_p.E115K|ILF2_uc009wok.2_Intron|ILF2_uc009wol.1_Missense_Mutation_p.E115K	p.E153K	NM_004515	NP_004506	Q12905	ILF2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		7	538	-	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		153			DZF.		A6NDB0|B2R8G7|Q5SR10|Q5SR11|Q7L7R3|Q9BWD4|Q9P1N0	Missense_Mutation	SNP	ENST00000361891.4	37	c.457G>A	CCDS1050.1	.	.	.	.	.	.	.	.	.	.	C	33	5.281593	0.95489	.	.	ENSG00000143621	ENST00000361891;ENST00000368684	T	0.54675	0.56	5.64	5.64	0.86602	DZF (2);	0.000000	0.85682	D	0.000000	T	0.65831	0.2729	M	0.81802	2.56	0.80722	D	1	P;D	0.56287	0.951;0.975	P;P	0.61003	0.801;0.882	T	0.65582	-0.6133	10	0.41790	T	0.15	.	17.1928	0.86885	0.0:1.0:0.0:0.0	.	115;153	B4DY09;Q12905	.;ILF2_HUMAN	K	153;115	ENSP00000355011:E153K	ENSP00000355011:E153K	E	-	1	0	ILF2	151904766	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.588000	0.74076	2.657000	0.90304	0.563000	0.77884	GAA		0.388	ILF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090040.1		NM_004515		8	145	0	0	0	1	0	8	145		
FDPS	2224	broad.mit.edu	37	1	155288696	155288696	+	Missense_Mutation	SNP	C	C	G	rs200807021		TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:155288696C>G	ENST00000356657.6	+	8	985	c.823C>G	c.(823-825)Cct>Gct	p.P275A	FDPS_ENST00000368356.4_Missense_Mutation_p.P275A|RUSC1-AS1_ENST00000543656.1_RNA|RUSC1_ENST00000368352.5_5'Flank|FDPS_ENST00000447866.1_Missense_Mutation_p.P209A|RUSC1_ENST00000368354.3_5'Flank|RUSC1-AS1_ENST00000446880.1_RNA|RUSC1-AS1_ENST00000443642.1_RNA|RUSC1-AS1_ENST00000450199.1_RNA	NM_001135821.1	NP_001129293.1	P14324	FPPS_HUMAN	farnesyl diphosphate synthase	275					cholesterol biosynthetic process (GO:0006695)|farnesyl diphosphate biosynthetic process (GO:0045337)|geranyl diphosphate biosynthetic process (GO:0033384)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	dimethylallyltranstransferase activity (GO:0004161)|geranyltranstransferase activity (GO:0004337)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399)	CTTCTACCTTCCTATAGCTGC	0.498																																						uc001fkc.2		NaN																	0					0						c.(823-825)CCT>GCT		farnesyl diphosphate synthase isoform a	Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399)						130.0	121.0	124.0					1																	155288696		2203	4300	6503	SO:0001583	missense	2224				cholesterol biosynthetic process|interspecies interaction between organisms|isoprenoid biosynthetic process	cytosol|nucleus	dimethylallyltranstransferase activity|geranyltranstransferase activity|metal ion binding	g.chr1:155288696C>G	J05262	CCDS1110.1, CCDS44241.1, CCDS72940.1	1q22	2012-07-13	2010-06-24		ENSG00000160752	ENSG00000160752	2.5.1.1, 2.5.1.10		3631	protein-coding gene	gene with protein product	"""farnesyl pyrophosphate synthetase, dimethylallyltranstransferase, geranyltranstransferase"""	134629				1968462	Standard	NM_002004		Approved		uc001fkc.2	P14324	OTTHUMG00000013909	ENST00000356657.6:c.823C>G	1.37:g.155288696C>G	ENSP00000349078:p.Pro275Ala					RAG1AP1_uc010pey.1_Intron|FDPS_uc001fkd.2_Missense_Mutation_p.P209A|FDPS_uc001fke.2_Missense_Mutation_p.P275A|FDPS_uc001fkf.2_Missense_Mutation_p.P209A|C1orf104_uc001fkh.1_Intron|RUSC1_uc001fkj.2_5'Flank|RUSC1_uc001fkk.2_5'Flank|RUSC1_uc009wqn.1_5'Flank	p.P275A	NM_002004	NP_001995	P14324	FPPS_HUMAN	Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		8	1042	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		275					D3DV91|E9PCI9|Q96G29	Missense_Mutation	SNP	ENST00000356657.6	37	c.823C>G	CCDS1110.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.852003	0.91355	.	.	ENSG00000160752	ENST00000447866;ENST00000368356;ENST00000356657	T;T;T	0.60548	0.18;0.18;0.18	4.32	4.32	0.51571	Terpenoid synthase (2);	0.000000	0.42172	D	0.000745	T	0.65933	0.2739	M	0.72624	2.21	0.80722	D	1	D	0.65815	0.995	P	0.61003	0.882	T	0.69416	-0.5151	10	0.72032	D	0.01	-8.6378	14.7495	0.69513	0.0:1.0:0.0:0.0	.	275	P14324	FPPS_HUMAN	A	209;275;275	ENSP00000391755:P209A;ENSP00000357340:P275A;ENSP00000349078:P275A	ENSP00000349078:P275A	P	+	1	0	FDPS	153555320	1.000000	0.71417	0.807000	0.32361	0.995000	0.86356	7.494000	0.81503	2.699000	0.92147	0.655000	0.94253	CCT		0.498	FDPS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039053.1		NM_002004		70	86	0	0	0	1	0	70	86		
ASH1L	55870	broad.mit.edu	37	1	155448304	155448304	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:155448304G>C	ENST00000368346.3	-	3	4996	c.4357C>G	c.(4357-4359)Ctt>Gtt	p.L1453V	ASH1L_ENST00000392403.3_Missense_Mutation_p.L1453V			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1453					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CTGGTTGTAAGAAAGGCCTCC	0.493																																						uc009wqq.2		NaN																	0				skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11						c.(4357-4359)CTT>GTT		absent, small, or homeotic 1-like							155.0	142.0	146.0					1																	155448304		2203	4300	6503	SO:0001583	missense	55870				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155448304G>C	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.4357C>G	1.37:g.155448304G>C	ENSP00000357330:p.Leu1453Val					ASH1L_uc001fkt.2_Missense_Mutation_p.L1453V|ASH1L_uc009wqr.1_Missense_Mutation_p.L1453V	p.L1453V	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		3	4837	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		1453					Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	ENST00000368346.3	37	c.4357C>G		.	.	.	.	.	.	.	.	.	.	G	17.20	3.329713	0.60743	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	D;D	0.89552	-2.53;-2.53	5.44	5.44	0.79542	.	0.000000	0.64402	D	0.000002	D	0.88614	0.6484	N	0.19112	0.55	0.80722	D	1	D;D	0.71674	0.997;0.998	D;D	0.83275	0.991;0.996	D	0.87797	0.2622	10	0.36615	T	0.2	.	19.0494	0.93036	0.0:0.0:1.0:0.0	.	1453;1453	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	V	1453	ENSP00000357330:L1453V;ENSP00000376204:L1453V	ENSP00000357330:L1453V	L	-	1	0	ASH1L	153714928	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.601000	0.67606	2.832000	0.97577	0.655000	0.94253	CTT		0.493	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1		NM_018489		26	112	0	0	0	1	0	26	112		
BCAN	63827	broad.mit.edu	37	1	156622477	156622477	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:156622477C>T	ENST00000329117.5	+	8	2071	c.1735C>T	c.(1735-1737)Cga>Tga	p.R579*	RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Nonsense_Mutation_p.R579*	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	579					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hippocampus development (GO:0021766)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TGGGGTCCCTCGAGGAGAGAG	0.642																																						uc001fpp.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(1735-1737)CGA>TGA		brevican isoform 1							58.0	61.0	60.0					1																	156622477		2203	4300	6503	SO:0001587	stop_gained	63827				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding	g.chr1:156622477C>T	BC027971	CCDS1149.1, CCDS1150.1	1q31	2013-05-07			ENSG00000132692	ENSG00000132692		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	23059	protein-coding gene	gene with protein product	"""chondroitin sulfate proteoglycan 7"", ""brevican proteoglycan"""	600347				11054543, 11873941	Standard	NM_021948		Approved	BEHAB, MGC13038, CSPG7	uc001fpp.3	Q96GW7	OTTHUMG00000033322	ENST00000329117.5:c.1735C>T	1.37:g.156622477C>T	ENSP00000331210:p.Arg579*					BCAN_uc001fpo.2_Nonsense_Mutation_p.R579*	p.R579*	NM_021948	NP_068767	Q96GW7	PGCB_HUMAN			8	2071	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		579					D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Nonsense_Mutation	SNP	ENST00000329117.5	37	c.1735C>T	CCDS1149.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.898076	0.91962	.	.	ENSG00000132692	ENST00000329117;ENST00000361588	.	.	.	4.29	3.34	0.38264	.	0.615996	0.12995	N	0.422121	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.7595	9.0537	0.36392	0.2192:0.7808:0.0:0.0	.	.	.	.	X	579	.	ENSP00000331210:R579X	R	+	1	2	BCAN	154889101	0.567000	0.26626	1.000000	0.80357	0.978000	0.69477	1.409000	0.34680	0.961000	0.38030	0.455000	0.32223	CGA		0.642	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081844.2		NM_021948		24	32	0	0	0	1	0	24	32		
SPTA1	6708	broad.mit.edu	37	1	158615287	158615287	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:158615287G>A	ENST00000368147.4	-	28	4174	c.3994C>T	c.(3994-3996)Cag>Tag	p.Q1332*		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1332					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AGTTTTACCTGATGTCTCTCC	0.448																																						uc001fst.1		NaN																	0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(3994-3996)CAG>TAG		spectrin, alpha, erythrocytic 1							145.0	140.0	141.0					1																	158615287		1988	4162	6150	SO:0001587	stop_gained	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158615287G>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.3994C>T	1.37:g.158615287G>A	ENSP00000357129:p.Gln1332*						p.Q1332*	NM_003126	NP_003117	P02549	SPTA1_HUMAN			28	4193	-	all_hematologic(112;0.0378)		1332			Spectrin 13.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Nonsense_Mutation	SNP	ENST00000368147.4	37	c.3994C>T	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	G	39	7.525598	0.98339	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	.	.	.	5.06	-1.7	0.08159	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	2.4763	0.04576	0.1349:0.2273:0.4041:0.2337	.	.	.	.	X	1332	.	ENSP00000357129:Q1332X	Q	-	1	0	SPTA1	156881911	1.000000	0.71417	0.618000	0.29105	0.033000	0.12548	2.746000	0.47467	-0.494000	0.06669	-0.840000	0.03056	CAG		0.448	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3		NM_003126		43	74	0	0	0	1	0	43	74		
OR6N1	128372	broad.mit.edu	37	1	158735776	158735776	+	Missense_Mutation	SNP	C	C	A	rs372945339		TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:158735776C>A	ENST00000335094.2	-	1	716	c.697G>T	c.(697-699)Ggc>Tgc	p.G233C		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	233						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					TTCCTCTTGCCGGCAGCTGAG	0.498																																						uc010piq.1		NaN																	0				ovary(1)	1						c.(697-699)GGC>TGC		olfactory receptor, family 6, subfamily N,							137.0	132.0	134.0					1																	158735776		2203	4300	6503	SO:0001583	missense	128372				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158735776C>A	BK004199	CCDS30905.1	1q23.1	2012-08-09			ENSG00000197403	ENSG00000197403		"""GPCR / Class A : Olfactory receptors"""	15034	protein-coding gene	gene with protein product							Standard	NM_001005185		Approved		uc010piq.2	Q8NGY5	OTTHUMG00000022774	ENST00000335094.2:c.697G>T	1.37:g.158735776C>A	ENSP00000335535:p.Gly233Cys						p.G233C	NM_001005185	NP_001005185	Q8NGY5	OR6N1_HUMAN			1	697	-	all_hematologic(112;0.0378)		233			Cytoplasmic (Potential).		Q5VUU8|Q96R35	Missense_Mutation	SNP	ENST00000335094.2	37	c.697G>T	CCDS30905.1	.	.	.	.	.	.	.	.	.	.	C	12.00	1.805382	0.31961	.	.	ENSG00000197403	ENST00000335094	T	0.00378	7.67	4.89	3.96	0.45880	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47455	D	0.000240	T	0.00875	0.0029	H	0.97291	3.975	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.23619	-1.0183	10	0.87932	D	0	-6.6675	13.4733	0.61292	0.158:0.842:0.0:0.0	.	233	Q8NGY5	OR6N1_HUMAN	C	233	ENSP00000335535:G233C	ENSP00000335535:G233C	G	-	1	0	OR6N1	157002400	0.000000	0.05858	0.158000	0.22627	0.639000	0.38242	0.706000	0.25690	1.238000	0.43771	0.655000	0.94253	GGC		0.498	OR6N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059067.1		NM_001005185		32	104	1	0	3.62531e-18	1	4.02504e-18	32	104		
OR10J1	26476	broad.mit.edu	37	1	159409997	159409997	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:159409997G>C	ENST00000423932.3	+	1	486	c.449G>C	c.(448-450)aGg>aCg	p.R150T	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	150					G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of chemical stimulus (GO:0007606)|single fertilization (GO:0007338)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					ATGAACAAGAGGCTGCGTATC	0.488																																						uc010piv.1		NaN																	0				ovary(1)	1						c.(448-450)AGG>ACG		olfactory receptor, family 10, subfamily J,							127.0	120.0	122.0					1																	159409997		2203	4300	6503	SO:0001583	missense	26476				sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity	g.chr1:159409997G>C	X64995	CCDS1185.1	1q23.2	2012-08-09			ENSG00000196184	ENSG00000196184		"""GPCR / Class A : Olfactory receptors"""	8175	protein-coding gene	gene with protein product						1370859	Standard	NM_012351		Approved	HGMP07J, HSHGMP07J	uc010piv.2	P30954	OTTHUMG00000022737	ENST00000423932.3:c.449G>C	1.37:g.159409997G>C	ENSP00000399078:p.Arg150Thr					uc001fts.3_Intron	p.R150T	NM_012351	NP_036483	P30954	O10J1_HUMAN			1	449	+	all_hematologic(112;0.0429)		150			Cytoplasmic (Potential).		Q2M1M8|Q5VSV1|Q6IET5|Q96R56	Missense_Mutation	SNP	ENST00000423932.3	37	c.449G>C	CCDS1185.1	.	.	.	.	.	.	.	.	.	.	G	0.816	-0.750229	0.03041	.	.	ENSG00000196184	ENST00000423932	T	0.41400	1.0	4.49	2.61	0.31194	GPCR, rhodopsin-like superfamily (1);	1.030570	0.07735	N	0.945831	T	0.16938	0.0407	L	0.52759	1.655	0.09310	N	1	B	0.12013	0.005	B	0.18871	0.023	T	0.23619	-1.0183	10	0.33940	T	0.23	.	5.4627	0.16626	0.3126:0.0:0.6874:0.0	.	150	P30954	O10J1_HUMAN	T	150	ENSP00000399078:R150T	ENSP00000399078:R150T	R	+	2	0	OR10J1	157676621	0.000000	0.05858	0.037000	0.18230	0.030000	0.12068	0.448000	0.21726	1.219000	0.43474	0.655000	0.94253	AGG		0.488	OR10J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059020.1		NM_012351		11	155	0	0	0	1	0	11	155		
CFAP45	25790	broad.mit.edu	37	1	159857685	159857685	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:159857685C>G	ENST00000368099.4	-	5	598	c.534G>C	c.(532-534)caG>caC	p.Q178H	CCDC19_ENST00000476696.1_5'UTR|CCDC19_ENST00000426543.2_Missense_Mutation_p.Q93H	NM_012337.2	NP_036469.2														endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			TGTTGGCTCTCTGCAGGAGGT	0.552																																						uc001fui.2		NaN																	0				ovary(1)	1						c.(532-534)CAG>CAC		nasopharyngeal epithelium specific protein 1							233.0	207.0	216.0					1																	159857685		2203	4300	6503	SO:0001583	missense	25790					mitochondrion|soluble fraction		g.chr1:159857685C>G																												ENST00000368099.4:c.534G>C	1.37:g.159857685C>G	ENSP00000357079:p.Gln178His					CCDC19_uc009wtb.2_RNA|CCDC19_uc001fuj.2_RNA|CCDC19_uc001fuk.2_Missense_Mutation_p.Q93H|CCDC19_uc001ful.2_Missense_Mutation_p.Q93H|CCDC19_uc009wtc.1_Missense_Mutation_p.Q178H	p.Q178H	NM_012337	NP_036469	Q9UL16	CCD19_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.151)		5	552	-	all_hematologic(112;0.0597)		178			Potential.			Missense_Mutation	SNP	ENST00000368099.4	37	c.534G>C	CCDS30914.1	.	.	.	.	.	.	.	.	.	.	C	18.59	3.655795	0.67586	.	.	ENSG00000213085	ENST00000368099;ENST00000426543	T;T	0.47177	0.85;0.85	4.94	4.94	0.65067	.	0.298737	0.36134	N	0.002766	T	0.32010	0.0815	L	0.54323	1.7	0.48696	D	0.999699	P;P	0.38642	0.641;0.641	B;B	0.37833	0.259;0.259	T	0.14559	-1.0468	9	.	.	.	-6.307	15.687	0.77418	0.0:1.0:0.0:0.0	.	178;178	A8K884;Q9UL16	.;CCD19_HUMAN	H	178;93	ENSP00000357079:Q178H;ENSP00000403044:Q93H	.	Q	-	3	2	CCDC19	158124309	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.933000	0.40153	2.305000	0.77605	0.561000	0.74099	CAG		0.552	CCDC19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085979.1				94	101	0	0	0	1	0	94	101		
PIGM	93183	broad.mit.edu	37	1	160000857	160000857	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:160000857G>C	ENST00000368090.2	-	1	926	c.673C>G	c.(673-675)Cgg>Ggg	p.R225G		NM_145167.2	NP_660150.1	Q9H3S5	PIGM_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class M	225					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	mannosyltransferase activity (GO:0000030)			kidney(1)|large_intestine(4)|lung(9)|ovary(2)|skin(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AGCACAGCCCGATTACACAGC	0.488																																						uc001fuv.1		NaN																	0				ovary(2)|skin(1)	3						c.(673-675)CGG>GGG		phosphatidylinositol glycan anchor biosynthesis,							96.0	101.0	99.0					1																	160000857		2203	4300	6503	SO:0001583	missense	93183				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane		g.chr1:160000857G>C	AB028127	CCDS1192.1	1q23.2	2013-02-26	2006-06-28		ENSG00000143315	ENSG00000143315		"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"", ""Phosphatidylinositol glycan anchor biosynthesis"""	18858	protein-coding gene	gene with protein product	"""GPI mannosyltransferase 1"", ""DPM:GlcN-(acyl-)PI mannosyltransferase"", ""dol-P-Man dependent GPI mannosyltransferase"""	610273	"""phosphatidylinositol glycan, class M"""			11226175	Standard	NM_145167		Approved	GPI-MT-I	uc001fuv.1	Q9H3S5	OTTHUMG00000024081	ENST00000368090.2:c.673C>G	1.37:g.160000857G>C	ENSP00000357069:p.Arg225Gly						p.R225G	NM_145167	NP_660150	Q9H3S5	PIGM_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		1	927	-	all_hematologic(112;0.093)		225			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000368090.2	37	c.673C>G	CCDS1192.1	.	.	.	.	.	.	.	.	.	.	G	0.514	-0.865359	0.02590	.	.	ENSG00000143315	ENST00000368090	T	0.42131	0.98	5.16	3.23	0.37069	.	0.499775	0.19610	N	0.110167	T	0.18800	0.0451	M	0.67625	2.065	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.19386	-1.0307	9	.	.	.	-17.2966	7.8327	0.29353	0.0919:0.1648:0.7433:0.0	.	225	Q9H3S5	PIGM_HUMAN	G	225	ENSP00000357069:R225G	.	R	-	1	2	PIGM	158267481	0.000000	0.05858	0.001000	0.08648	0.057000	0.15508	0.293000	0.19029	0.707000	0.31934	0.462000	0.41574	CGG		0.488	PIGM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060643.2		NM_145167		35	127	0	0	0	1	0	35	127		
ATP1A2	477	broad.mit.edu	37	1	160098576	160098576	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:160098576G>A	ENST00000361216.3	+	9	1241	c.1152G>A	c.(1150-1152)atG>atA	p.M384I	ATP1A2_ENST00000392233.3_Missense_Mutation_p.M384I	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	384					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			AGAACCGCATGACCGTCGCCC	0.592																																						uc001fvc.2		NaN																	0				central_nervous_system(3)|ovary(2)|skin(2)	7						c.(1150-1152)ATG>ATA		Na+/K+ -ATPase alpha 2 subunit proprotein							122.0	97.0	106.0					1																	160098576		2203	4300	6503	SO:0001583	missense	477				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160098576G>A	AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"""ATPases / P-type"""	800	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-2"", ""sodium pump subunit alpha-2"", ""sodium-potassium ATPase catalytic subunit alpha-2"""	182340	"""migraine, hemiplegic 2"", ""ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"""	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.1152G>A	1.37:g.160098576G>A	ENSP00000354490:p.Met384Ile					ATP1A2_uc001fvb.2_Missense_Mutation_p.M384I|ATP1A2_uc010piz.1_Missense_Mutation_p.M229I|ATP1A2_uc001fvd.2_Missense_Mutation_p.M120I|ATP1A2_uc009wtg.1_Missense_Mutation_p.M72I	p.M384I	NM_000702	NP_000693	P50993	AT1A2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)		9	1284	+	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		384			Cytoplasmic (Potential).		D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Missense_Mutation	SNP	ENST00000361216.3	37	c.1152G>A	CCDS1196.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.030363	0.93575	.	.	ENSG00000018625	ENST00000538123;ENST00000361216;ENST00000392233;ENST00000435866	D;D	0.87809	-2.3;-2.3	4.77	4.77	0.60923	ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.94288	0.8165	M	0.91561	3.22	0.80722	D	1	D;D;D;D	0.71674	0.996;0.998;0.997;0.998	D;D;D;D	0.87578	0.986;0.998;0.994;0.998	D	0.95421	0.8507	10	0.87932	D	0	.	16.9484	0.86236	0.0:0.0:1.0:0.0	.	229;384;284;384	B4DHD7;B1AKY9;F5GXJ7;P50993	.;.;.;AT1A2_HUMAN	I	229;384;384;87	ENSP00000354490:M384I;ENSP00000376066:M384I	ENSP00000354490:M384I	M	+	3	0	ATP1A2	158365200	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	9.789000	0.99068	2.359000	0.80004	0.561000	0.74099	ATG		0.592	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060642.2		NM_000702		28	73	0	0	0	1	0	28	73		
LY9	4063	broad.mit.edu	37	1	160766040	160766040	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:160766040G>A	ENST00000263285.6	+	1	93	c.63G>A	c.(61-63)caG>caA	p.Q21Q	LY9_ENST00000368040.1_5'UTR|LY9_ENST00000392203.4_Silent_p.Q21Q|LY9_ENST00000368039.2_Silent_p.Q21Q|LY9_ENST00000341032.4_Silent_p.Q21Q|LY9_ENST00000368037.5_Silent_p.Q21Q|LY9_ENST00000471816.1_3'UTR|LY9_ENST00000368041.2_5'UTR			Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	21					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			GTAAGCCACAGAGGAGTCAGC	0.498																																						uc001fwu.2		NaN																	0				ovary(1)	1						c.(61-63)CAG>CAA		lymphocyte antigen 9 isoform a							169.0	187.0	181.0					1																	160766040		2203	4300	6503	SO:0001819	synonymous_variant	4063				cell adhesion|immunoglobulin mediated immune response	integral to membrane		g.chr1:160766040G>A	L42621	CCDS30916.1, CCDS30917.1, CCDS65695.1, CCDS65696.1	1q23.3	2013-01-11			ENSG00000122224	ENSG00000122224		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6730	protein-coding gene	gene with protein product		600684				8537117, 7797269	Standard	NM_001261457		Approved	CD229, mLY9, SLAMF3, hly9	uc001fwu.4	Q9HBG7	OTTHUMG00000024007	ENST00000263285.6:c.63G>A	1.37:g.160766040G>A						LY9_uc001fwt.2_Silent_p.Q21Q|LY9_uc010pjs.1_Silent_p.Q21Q|LY9_uc001fwv.2_Silent_p.Q21Q|LY9_uc001fww.2_Silent_p.Q21Q|LY9_uc001fwx.2_Silent_p.Q21Q	p.Q21Q	NM_002348	NP_002339	Q9HBG7	LY9_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00737)		1	113	+	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		21					A8K7N3|Q14775|Q5VYI3|Q6P2J4|Q9H4N5|Q9NQ24	Silent	SNP	ENST00000263285.6	37	c.63G>A	CCDS30916.1																																																																																				0.498	LY9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060457.3		NM_002348		29	112	0	0	0	1	0	29	112		
LY9	4063	broad.mit.edu	37	1	160794037	160794037	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:160794037C>G	ENST00000263285.6	+	9	1927	c.1897C>G	c.(1897-1899)Cag>Gag	p.Q633E	LY9_ENST00000368040.1_Intron|LY9_ENST00000392203.4_Missense_Mutation_p.Q543E|LY9_ENST00000341032.4_Missense_Mutation_p.Q499E|LY9_ENST00000368037.5_Missense_Mutation_p.Q619E|LY9_ENST00000368041.2_Missense_Mutation_p.Q503E			Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	633					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			ACGGAAACCTCAGGTGGTGAG	0.488																																						uc001fwu.2		NaN																	0				ovary(1)	1						c.(1897-1899)CAG>GAG		lymphocyte antigen 9 isoform a							158.0	151.0	154.0					1																	160794037		2203	4300	6503	SO:0001583	missense	4063				cell adhesion|immunoglobulin mediated immune response	integral to membrane		g.chr1:160794037C>G	L42621	CCDS30916.1, CCDS30917.1, CCDS65695.1, CCDS65696.1	1q23.3	2013-01-11			ENSG00000122224	ENSG00000122224		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6730	protein-coding gene	gene with protein product		600684				8537117, 7797269	Standard	NM_001261457		Approved	CD229, mLY9, SLAMF3, hly9	uc001fwu.4	Q9HBG7	OTTHUMG00000024007	ENST00000263285.6:c.1897C>G	1.37:g.160794037C>G	ENSP00000263285:p.Gln633Glu					LY9_uc001fwv.2_Missense_Mutation_p.Q619E|LY9_uc001fww.2_Missense_Mutation_p.Q543E|LY9_uc001fwx.2_Intron|LY9_uc001fwz.2_Intron	p.Q633E	NM_002348	NP_002339	Q9HBG7	LY9_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00737)		9	1947	+	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		633			Cytoplasmic (Potential).		A8K7N3|Q14775|Q5VYI3|Q6P2J4|Q9H4N5|Q9NQ24	Missense_Mutation	SNP	ENST00000263285.6	37	c.1897C>G	CCDS30916.1	.	.	.	.	.	.	.	.	.	.	C	9.643	1.139578	0.21205	.	.	ENSG00000122224	ENST00000368041;ENST00000341032;ENST00000263285;ENST00000392203;ENST00000368037;ENST00000368036	T;T	0.36340	1.26;1.29	3.57	1.54	0.23209	.	1.747930	0.04034	N	0.302009	T	0.16214	0.0390	L	0.60455	1.87	0.09310	N	1	P;P;P	0.43750	0.816;0.792;0.688	B;B;B	0.35039	0.111;0.194;0.095	T	0.30765	-0.9967	10	0.66056	D	0.02	-0.1863	8.0477	0.30559	0.4628:0.5372:0.0:0.0	.	499;619;633	E7EME5;Q9HBG7-2;Q9HBG7	.;.;LY9_HUMAN	E	633;499;633;503;579;401	ENSP00000342921:Q499E;ENSP00000263285:Q633E	ENSP00000263285:Q633E	Q	+	1	0	LY9	159060661	0.000000	0.05858	0.001000	0.08648	0.043000	0.13939	-0.006000	0.12833	0.400000	0.25396	0.563000	0.77884	CAG		0.488	LY9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060457.3		NM_002348		22	101	0	0	0	1	0	22	101		
HSD17B7	51478	broad.mit.edu	37	1	162767598	162767598	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:162767598G>A	ENST00000254521.3	+	4	394	c.339G>A	c.(337-339)gtG>gtA	p.V113V	HSD17B7_ENST00000367913.1_Intron|HSD17B7_ENST00000485405.1_3'UTR|HSD17B7_ENST00000367917.3_Silent_p.V113V	NM_016371.2	NP_057455.1	P56937	DHB7_HUMAN	hydroxysteroid (17-beta) dehydrogenase 7	113					cholesterol biosynthetic process (GO:0006695)|estrogen biosynthetic process (GO:0006703)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	3-keto sterol reductase activity (GO:0000253)|estradiol 17-beta-dehydrogenase activity (GO:0004303)			endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9	all_hematologic(112;0.115)					TCAGAAAAGTGATTCATATGT	0.433																																						uc001gci.2		NaN																	0				ovary(1)	1						c.(337-339)GTG>GTA		hydroxysteroid (17-beta) dehydrogenase 7	NADH(DB00157)						34.0	33.0	33.0					1																	162767598		2200	4279	6479	SO:0001819	synonymous_variant	51478				cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	3-keto sterol reductase activity|estradiol 17-beta-dehydrogenase activity	g.chr1:162767598G>A	AF098786	CCDS1242.1	1q23	2011-09-14			ENSG00000132196	ENSG00000132196	1.1.1.270	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	5215	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 37C, member 1"""	606756				10544267, 10419022, 19027726	Standard	NM_016371		Approved	PRAP, SDR37C1	uc001gci.3	P56937	OTTHUMG00000034420	ENST00000254521.3:c.339G>A	1.37:g.162767598G>A						HSD17B7_uc009wuv.2_RNA	p.V113V	NM_016371	NP_057455	P56937	DHB7_HUMAN			4	434	+	all_hematologic(112;0.115)		113			Extracellular (Potential).		Q5T246|Q7Z4V9|Q8WWS2|Q9UF00	Silent	SNP	ENST00000254521.3	37	c.339G>A	CCDS1242.1																																																																																				0.433	HSD17B7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083207.1		NM_016371		5	35	0	0	0	1	0	5	35		
GPA33	10223	broad.mit.edu	37	1	167024974	167024974	+	Silent	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:167024974G>C	ENST00000367868.3	-	5	1027	c.684C>G	c.(682-684)gtC>gtG	p.V228V	GPA33_ENST00000527955.1_5'UTR|RP11-102C16.3_ENST00000417644.1_RNA	NM_005814.1	NP_005805.1	Q99795	GPA33_HUMAN	glycoprotein A33 (transmembrane)	228						extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						TACGAGATCTGACGGCCACCG	0.557																																						uc001gea.1		NaN																	0					0						c.(682-684)GTC>GTG		transmembrane glycoprotein A33 precursor							134.0	119.0	124.0					1																	167024974		2203	4300	6503	SO:0001819	synonymous_variant	10223					integral to plasma membrane	receptor activity	g.chr1:167024974G>C	U79725	CCDS1258.1	1q24.1	2013-01-29			ENSG00000143167	ENSG00000143167		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	4445	protein-coding gene	gene with protein product		602171				9012807, 9245713	Standard	NM_005814		Approved	A33	uc001gea.1	Q99795	OTTHUMG00000034435	ENST00000367868.3:c.684C>G	1.37:g.167024974G>C							p.V228V	NM_005814	NP_005805	Q99795	GPA33_HUMAN			5	1028	-			228			Extracellular (Potential).		Q5VZP6	Silent	SNP	ENST00000367868.3	37	c.684C>G	CCDS1258.1																																																																																				0.557	GPA33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083245.1		NM_005814		19	78	0	0	0	1	0	19	78		
DCAF6	55827	broad.mit.edu	37	1	168035698	168035698	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:168035698G>C	ENST00000312263.6	+	17	2611	c.2407G>C	c.(2407-2409)Gat>Cat	p.D803H	DCAF6_ENST00000367840.3_Missense_Mutation_p.D894H|DCAF6_ENST00000367843.3_Missense_Mutation_p.D823H|DCAF6_ENST00000432587.2_Missense_Mutation_p.D863H	NM_001017977.2	NP_001017977.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	803					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						AAAACTTGCTGATGAAGTAAG	0.289																																						uc001gew.2		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(2407-2409)GAT>CAT		IQ motif and WD repeats 1 isoform b							36.0	38.0	37.0					1																	168035698		2203	4283	6486	SO:0001583	missense	55827				positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity	g.chr1:168035698G>C	AL136738	CCDS1267.2, CCDS30933.1, CCDS55657.1, CCDS55658.1	1q23.3	2013-01-09	2009-07-17	2009-07-17	ENSG00000143164	ENSG00000143164		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	30002	protein-coding gene	gene with protein product		610494	"""IQ motif and WD repeats 1"""	IQWD1		12032826	Standard	NM_018442		Approved	PC326	uc001gex.3	Q58WW2	OTTHUMG00000034572	ENST00000312263.6:c.2407G>C	1.37:g.168035698G>C	ENSP00000311949:p.Asp803His					DCAF6_uc001gev.2_Missense_Mutation_p.D823H|DCAF6_uc001gex.2_Missense_Mutation_p.D894H|DCAF6_uc010plk.1_Missense_Mutation_p.D863H|DCAF6_uc001gey.2_Missense_Mutation_p.D676H|DCAF6_uc001gez.2_Missense_Mutation_p.D106H	p.D803H	NM_001017977	NP_001017977	Q58WW2	DCAF6_HUMAN			17	2649	+			803					A2A295|B4DNB8|Q7L8I0|Q8IXH3|Q8TB19	Missense_Mutation	SNP	ENST00000312263.6	37	c.2407G>C	CCDS30933.1	.	.	.	.	.	.	.	.	.	.	G	15.45	2.836097	0.50951	.	.	ENSG00000143164	ENST00000367843;ENST00000432587;ENST00000312263;ENST00000367840	D;T;D;D	0.81739	-1.52;0.23;-1.53;-1.51	5.54	5.54	0.83059	.	0.201649	0.44285	D	0.000474	T	0.60663	0.2286	N	0.11560	0.145	0.41290	D	0.986977	B;B;B;B;B	0.33073	0.255;0.396;0.126;0.009;0.025	B;B;B;B;B	0.37387	0.081;0.248;0.241;0.014;0.049	T	0.65565	-0.6137	9	0.38643	T	0.18	.	19.4831	0.95018	0.0:0.0:1.0:0.0	.	863;476;894;803;823	B4DNB8;Q9P0U0;Q58WW2-3;Q58WW2;Q58WW2-2	.;.;.;DCAF6_HUMAN;.	H	823;863;803;894	ENSP00000356817:D823H;ENSP00000396238:D863H;ENSP00000311949:D803H;ENSP00000356814:D894H	ENSP00000311949:D803H	D	+	1	0	DCAF6	166302322	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.878000	0.75567	2.602000	0.87976	0.655000	0.94253	GAT		0.289	DCAF6-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083661.2		NM_018442		4	55	0	0	0	1	0	4	55		
METTL18	92342	broad.mit.edu	37	1	169762167	169762167	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:169762167C>G	ENST00000310392.4	-	2	1023	c.670G>C	c.(670-672)Gat>Cat	p.D224H	C1orf112_ENST00000413811.2_5'Flank|C1orf112_ENST00000359326.4_5'Flank|C1orf112_ENST00000286031.6_5'Flank|C1orf112_ENST00000498289.1_Intron|METTL18_ENST00000303469.2_Missense_Mutation_p.D224H|C1orf112_ENST00000456684.1_5'Flank	NM_033418.2	NP_219486.1	O95568	MET18_HUMAN	methyltransferase like 18	224						cytoplasm (GO:0005737)	protein methyltransferase activity (GO:0008276)			kidney(1)|large_intestine(3)|lung(4)	8						GTTACTTCATCAATCACCATA	0.373																																						uc001ggn.2		NaN																	0					0						c.(670-672)GAT>CAT		hypothetical protein MGC9084							137.0	145.0	142.0					1																	169762167		2203	4300	6503	SO:0001583	missense	92342					cytoplasm	protein methyltransferase activity	g.chr1:169762167C>G	AL035369	CCDS1284.1	1q24.2	2013-10-11	2011-03-02	2011-03-02	ENSG00000171806	ENSG00000171806			28793	protein-coding gene	gene with protein product	"""histidine protein methyltransferase 1"""	615255	"""chromosome 1 open reading frame 156"""	C1orf156		20864530	Standard	NM_033418		Approved	MGC9084, AsTP2, HPM1	uc001ggn.4	O95568	OTTHUMG00000035813	ENST00000310392.4:c.670G>C	1.37:g.169762167C>G	ENSP00000307975:p.Asp224His					C1orf112_uc001ggj.2_Intron|C1orf112_uc001ggo.2_5'Flank|uc010plt.1_5'Flank|C1orf112_uc001ggp.2_5'Flank|C1orf112_uc001ggq.2_5'Flank|C1orf112_uc009wvt.2_5'Flank	p.D224H	NM_033418	NP_219486	O95568	MET18_HUMAN			2	948	-	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		224					B2R9T5	Missense_Mutation	SNP	ENST00000310392.4	37	c.670G>C	CCDS1284.1	.	.	.	.	.	.	.	.	.	.	C	16.26	3.071668	0.55646	.	.	ENSG00000171806	ENST00000310392;ENST00000303469	T;T	0.21361	2.01;2.01	5.96	4.04	0.47022	.	0.060797	0.64402	D	0.000004	T	0.13500	0.0327	L	0.55990	1.75	0.46317	D	0.998985	P	0.36183	0.542	B	0.41894	0.369	T	0.02471	-1.1154	10	0.45353	T	0.12	-10.7036	10.1558	0.42823	0.0:0.7863:0.1391:0.0746	.	224	O95568	MET18_HUMAN	H	224	ENSP00000307975:D224H;ENSP00000307077:D224H	ENSP00000307077:D224H	D	-	1	0	METTL18	168028791	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.784000	0.55416	1.455000	0.47813	0.655000	0.94253	GAT		0.373	METTL18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087109.1		NM_033418		35	173	0	0	0	1	0	35	173		
PRRC2C	23215	broad.mit.edu	37	1	171482304	171482304	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:171482304G>C	ENST00000338920.4	+	3	514	c.277G>C	c.(277-279)Gaa>Caa	p.E93Q	PRRC2C_ENST00000367742.3_Missense_Mutation_p.E95Q|PRRC2C_ENST00000426496.2_Missense_Mutation_p.E93Q|PRRC2C_ENST00000392078.3_Missense_Mutation_p.E95Q|PRRC2C_ENST00000476522.1_3'UTR	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	93					hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)										GCAACATGAAGAAGAAAAGTG	0.398																																						uc010pmg.1		NaN																	0					0						c.(277-279)GAA>CAA		HBxAg transactivated protein 2							57.0	50.0	52.0					1																	171482304		2203	4300	6503	SO:0001583	missense	23215						protein C-terminus binding	g.chr1:171482304G>C	AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"""BAT2 domain containing 1"", ""HLA-B associated transcript 2-like 2"""	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.277G>C	1.37:g.171482304G>C	ENSP00000343629:p.Glu93Gln					BAT2L2_uc001ghq.1_Missense_Mutation_p.E95Q|BAT2L2_uc001ghr.1_Missense_Mutation_p.E95Q	p.E93Q	NM_015172	NP_055987	Q9Y520	PRC2C_HUMAN			3	543	+			93					Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Missense_Mutation	SNP	ENST00000338920.4	37	c.277G>C	CCDS1296.2	.	.	.	.	.	.	.	.	.	.	G	13.95	2.389476	0.42410	.	.	ENSG00000117523	ENST00000392078;ENST00000451306;ENST00000426496;ENST00000367742;ENST00000338920	T;T;T;T	0.22945	1.93;1.93;1.93;1.93	5.66	5.66	0.87406	BAT2, N-terminal (1);	0.000000	0.48286	D	0.000193	T	0.13884	0.0336	N	0.05078	-0.115	0.43385	D	0.995499	P;P;B	0.47034	0.865;0.889;0.006	P;P;B	0.50896	0.521;0.653;0.021	T	0.15206	-1.0445	10	0.29301	T	0.29	.	19.7554	0.96287	0.0:0.0:1.0:0.0	.	93;95;93	Q9Y520-4;E7EPN9;Q9Y520	.;.;PRC2C_HUMAN	Q	95;93;93;95;93	ENSP00000375928:E95Q;ENSP00000410219:E93Q;ENSP00000356716:E95Q;ENSP00000343629:E93Q	ENSP00000343629:E93Q	E	+	1	0	PRRC2C	169748928	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.235000	0.72332	2.665000	0.90641	0.563000	0.77884	GAA		0.398	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314826.4		NM_015172		7	26	0	0	0	1	0	7	26		
PRRC2C	23215	broad.mit.edu	37	1	171501557	171501557	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:171501557G>C	ENST00000338920.4	+	12	1561	c.1324G>C	c.(1324-1326)Gat>Cat	p.D442H	PRRC2C_ENST00000367742.3_Missense_Mutation_p.D444H|PRRC2C_ENST00000426496.2_Missense_Mutation_p.D442H|PRRC2C_ENST00000392078.3_Missense_Mutation_p.D444H|PRRC2C_ENST00000476522.1_3'UTR	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	442					hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)										AGCTGATGAAGATGAAATATG	0.473																																						uc010pmg.1		NaN																	0					0						c.(1324-1326)GAT>CAT		HBxAg transactivated protein 2							60.0	57.0	58.0					1																	171501557		2203	4300	6503	SO:0001583	missense	23215						protein C-terminus binding	g.chr1:171501557G>C	AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"""BAT2 domain containing 1"", ""HLA-B associated transcript 2-like 2"""	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.1324G>C	1.37:g.171501557G>C	ENSP00000343629:p.Asp442His					BAT2L2_uc001ghr.1_Missense_Mutation_p.D444H	p.D442H	NM_015172	NP_055987	Q9Y520	PRC2C_HUMAN			12	1590	+			442					Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Missense_Mutation	SNP	ENST00000338920.4	37	c.1324G>C	CCDS1296.2	.	.	.	.	.	.	.	.	.	.	G	16.32	3.090639	0.55968	.	.	ENSG00000117523	ENST00000392078;ENST00000451306;ENST00000426496;ENST00000367742;ENST00000338920;ENST00000392080;ENST00000483654	T;T;T;T	0.05258	3.47;3.47;3.47;3.47	6.03	6.03	0.97812	.	0.142736	0.31461	N	0.007607	T	0.18467	0.0443	M	0.71581	2.175	0.58432	D	0.999997	D;D	0.76494	0.999;0.997	D;P	0.65874	0.939;0.819	T	0.00167	-1.1964	10	0.52906	T	0.07	.	20.5568	0.99304	0.0:0.0:1.0:0.0	.	442;444	Q9Y520-4;E7EPN9	.;.	H	444;442;442;444;442;198;200	ENSP00000375928:D444H;ENSP00000410219:D442H;ENSP00000356716:D444H;ENSP00000343629:D442H	ENSP00000343629:D442H	D	+	1	0	PRRC2C	169768181	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	9.259000	0.95561	2.861000	0.98227	0.655000	0.94253	GAT		0.473	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314826.4		NM_015172		10	29	0	0	0	1	0	10	29		
MYOC	4653	broad.mit.edu	37	1	171621212	171621212	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:171621212C>T	ENST00000037502.6	-	1	611	c.540G>A	c.(538-540)ctG>ctA	p.L180L		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response	180					bone development (GO:0060348)|clustering of voltage-gated sodium channels (GO:0045162)|ERBB2-ERBB3 signaling pathway (GO:0038133)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neuron projection development (GO:0031175)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|osteoblast differentiation (GO:0001649)|positive regulation of cell migration (GO:0030335)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of MAPK cascade (GO:0043408)|skeletal muscle hypertrophy (GO:0014734)	cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|node of Ranvier (GO:0033268)|proteinaceous extracellular matrix (GO:0005578)	fibronectin binding (GO:0001968)|frizzled binding (GO:0005109)|myosin light chain binding (GO:0032027)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					GGCCCCTTCTCAGCCTTGCTA	0.562																																						uc001ghu.2		NaN																	0				lung(1)	1						c.(538-540)CTG>CTA		myocilin precursor							188.0	203.0	198.0					1																	171621212		2203	4300	6503	SO:0001819	synonymous_variant	4653				anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity	g.chr1:171621212C>T	BC029261	CCDS1297.1	1q23-q24	2008-02-05			ENSG00000034971	ENSG00000034971			7610	protein-coding gene	gene with protein product		601652		GLC1A		9169133, 9005853	Standard	NM_000261		Approved	TIGR, JOAG1	uc001ghu.3	Q99972	OTTHUMG00000034789	ENST00000037502.6:c.540G>A	1.37:g.171621212C>T						MYOC_uc010pmk.1_Silent_p.L122L	p.L180L	NM_000261	NP_000252	Q99972	MYOC_HUMAN			1	562	-	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)		180			Potential.		B2RD84|O00620|Q7Z6Q9	Silent	SNP	ENST00000037502.6	37	c.540G>A	CCDS1297.1																																																																																				0.562	MYOC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084178.2		NM_000261		82	275	0	0	0	1	0	82	275		
SLC9C2	284525	broad.mit.edu	37	1	173523900	173523900	+	Nonsense_Mutation	SNP	G	G	C	rs138213092		TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:173523900G>C	ENST00000367714.3	-	11	1691	c.1269C>G	c.(1267-1269)taC>taG	p.Y423*	SLC9C2_ENST00000466087.1_Intron|SLC9C2_ENST00000536496.1_Nonsense_Mutation_p.Y321*|RP3-436N22.3_ENST00000431459.1_RNA	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	423					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)										GAGTCATCACGTATGAATTTA	0.328																																						uc001giz.2		NaN																	0				ovary(2)	2						c.(1267-1269)TAC>TAG		solute carrier family 9, member 11							140.0	141.0	141.0					1																	173523900		2203	4299	6502	SO:0001587	stop_gained	284525				sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity	g.chr1:173523900G>C	AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753		"""Solute carriers"""	28664	protein-coding gene	gene with protein product			"""solute carrier family 9, isoform 11"", ""solute carrier family 9, member 11"", ""solute carrier family 9, member C2"""	SLC9A11			Standard	NM_178527		Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.1269C>G	1.37:g.173523900G>C	ENSP00000356687:p.Tyr423*					SLC9A11_uc009wwe.2_Intron|SLC9A11_uc010pmq.1_RNA	p.Y423*	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN			11	1692	-			423			Helical; (Potential).		Q86UF3	Nonsense_Mutation	SNP	ENST00000367714.3	37	c.1269C>G	CCDS1308.1	.	.	.	.	.	.	.	.	.	.	G	41	9.149362	0.99082	.	.	ENSG00000162753	ENST00000367714;ENST00000536496	.	.	.	5.71	2.66	0.31614	.	0.523217	0.17676	N	0.165789	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.9108	4.8216	0.13394	0.1918:0.1779:0.6303:0.0	.	.	.	.	X	423;321	.	ENSP00000356687:Y423X	Y	-	3	2	SLC9A11	171790523	1.000000	0.71417	0.998000	0.56505	0.886000	0.51366	1.174000	0.31932	0.747000	0.32809	0.655000	0.94253	TAC		0.328	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084205.1		NM_178527		27	135	0	0	0	1	0	27	135		
TNR	7143	broad.mit.edu	37	1	175375427	175375427	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:175375427C>G	ENST00000367674.2	-	3	1132	c.424G>C	c.(424-426)Gag>Cag	p.E142Q	TNR_ENST00000263525.2_Missense_Mutation_p.E142Q			Q92752	TENR_HUMAN	tenascin R	142					associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)		p.E142K(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TCCAGCATCTCGATCCGGCTC	0.602																																						uc001gkp.1		NaN																	1	Substitution - Missense(1)		skin(1)	pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11						c.(424-426)GAG>CAG		tenascin R precursor							134.0	118.0	123.0					1																	175375427		2203	4300	6503	SO:0001583	missense	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175375427C>G	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.424G>C	1.37:g.175375427C>G	ENSP00000356646:p.Glu142Gln					TNR_uc009wwu.1_Missense_Mutation_p.E142Q|TNR_uc010pmz.1_Missense_Mutation_p.E142Q	p.E142Q	NM_003285	NP_003276	Q92752	TENR_HUMAN			1	505	-	Renal(580;0.146)		142			Potential.		C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	c.424G>C	CCDS1318.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.30|18.30	3.594318|3.594318	0.66219|0.66219	.|.	.|.	ENSG00000116147|ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673|ENST00000422274	T;T|.	0.35236|.	1.32;1.32|.	5.24|5.24	5.24|5.24	0.73138|0.73138	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74390|0.74390	0.3710|0.3710	M|M	0.66439|0.66439	2.03|2.03	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	0.999;1.0|.	D;D|.	0.87578|.	0.992;0.998|.	T|T	0.73294|0.73294	-0.4028|-0.4028	10|5	0.66056|.	D|.	0.02|.	.|.	18.4464|18.4464	0.90685|0.90685	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	142;142|.	B4DIX8;Q92752|.	.;TENR_HUMAN|.	Q|P	142|25	ENSP00000356646:E142Q;ENSP00000263525:E142Q|.	ENSP00000263525:E142Q|.	E|R	-|-	1|2	0|0	TNR|TNR	173642050|173642050	1.000000|1.000000	0.71417|0.71417	0.968000|0.968000	0.41197|0.41197	0.885000|0.885000	0.51271|0.51271	7.711000|7.711000	0.84669|0.84669	2.445000|2.445000	0.82738|0.82738	0.561000|0.561000	0.74099|0.74099	GAG|CGA		0.602	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4		NM_003285		20	76	0	0	0	1	0	20	76		
RALGPS2	55103	broad.mit.edu	37	1	178848093	178848093	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:178848093G>C	ENST00000367635.3	+	10	1140	c.802G>C	c.(802-804)Gaa>Caa	p.E268Q	RALGPS2_ENST00000367634.2_Missense_Mutation_p.E268Q|RALGPS2_ENST00000477383.1_3'UTR	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2	268	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						GTATATAGAAGAACTACAAAA	0.338																																						uc001glz.2		NaN																	0					0						c.(802-804)GAA>CAA		Ral GEF with PH domain and SH3 binding motif 2							79.0	80.0	80.0					1																	178848093		2202	4297	6499	SO:0001583	missense	55103				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity|protein binding	g.chr1:178848093G>C	AK098470	CCDS1325.1, CCDS65733.1	1q24	2013-01-11			ENSG00000116191	ENSG00000116191		"""Pleckstrin homology (PH) domain containing"""	30279	protein-coding gene	gene with protein product						10747847, 12102558	Standard	NM_152663		Approved	KIAA0351, FLJ10244, FLJ25604	uc001glz.3	Q86X27	OTTHUMG00000035076	ENST00000367635.3:c.802G>C	1.37:g.178848093G>C	ENSP00000356607:p.Glu268Gln					RALGPS2_uc001gly.1_Missense_Mutation_p.E268Q|RALGPS2_uc010pnb.1_Missense_Mutation_p.E268Q	p.E268Q	NM_152663	NP_689876	Q86X27	RGPS2_HUMAN			10	1140	+			268			Ras-GEF.		B7Z7B1|Q5T5Z1|Q5VZ67|Q9NW78	Missense_Mutation	SNP	ENST00000367635.3	37	c.802G>C	CCDS1325.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.67|19.67	3.870754|3.870754	0.72065|0.72065	.|.	.|.	ENSG00000116191|ENSG00000116191	ENST00000367635;ENST00000367634;ENST00000324778|ENST00000415888	T;T;T|.	0.32988|.	1.43;1.43;1.43|.	5.45|5.45	5.45|5.45	0.79879|0.79879	Guanine-nucleotide dissociation stimulator CDC25 (3);Ras guanine nucleotide exchange factor, domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.69602|0.69602	0.3129|0.3129	L|L	0.47190|0.47190	1.495|1.495	0.80722|0.80722	D|D	1|1	P;P|.	0.42757|.	0.647;0.789|.	B;B|.	0.37144|.	0.242;0.173|.	T|T	0.64888|0.64888	-0.6301|-0.6301	10|5	0.66056|.	D|.	0.02|.	.|.	19.2348|19.2348	0.93855|0.93855	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	268;268|.	B7Z7B1;Q86X27|.	.;RGPS2_HUMAN|.	Q|T	268;268;233|5	ENSP00000356607:E268Q;ENSP00000356606:E268Q;ENSP00000313613:E233Q|.	ENSP00000313613:E233Q|.	E|R	+|+	1|2	0|0	RALGPS2|RALGPS2	177114716|177114716	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	9.813000|9.813000	0.99286|0.99286	2.721000|2.721000	0.93114|0.93114	0.585000|0.585000	0.79938|0.79938	GAA|AGA		0.338	RALGPS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084926.2		NM_152663		10	32	0	0	0	1	0	10	32		
SMG7	9887	broad.mit.edu	37	1	183515224	183515224	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:183515224G>C	ENST00000347615.2	+	17	2613	c.2494G>C	c.(2494-2496)Gag>Cag	p.E832Q	SMG7_ENST00000456731.2_Missense_Mutation_p.E744Q|SMG7_ENST00000367537.3_Missense_Mutation_p.E815Q|SMG7_ENST00000508461.1_Missense_Mutation_p.E790Q|SMG7_ENST00000507469.1_Missense_Mutation_p.E786Q|SMG7_ENST00000515829.2_Missense_Mutation_p.E786Q	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	832	Gln/Pro-rich.				gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						AAAACTGTTTGAGCCGTCATT	0.463																																						uc001gqg.2		NaN																	0				upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						c.(2494-2496)GAG>CAG		SMG-7 homolog isoform 1							81.0	87.0	85.0					1																	183515224		2203	4300	6503	SO:0001583	missense	9887				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding	g.chr1:183515224G>C	D87437	CCDS1355.1, CCDS41445.1, CCDS41445.2, CCDS53444.1, CCDS53445.1	1q25	2013-07-02	2013-07-02	2006-02-16	ENSG00000116698	ENSG00000116698			16792	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog C (S. cerevisiae)"""	610964	"""chromosome 1 open reading frame 16"", ""smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C1orf16		14636577, 15721257	Standard	NM_173156		Approved	KIAA0250, EST1C, SGA56M, SMG-7	uc001gqf.3	Q92540	OTTHUMG00000035221	ENST00000347615.2:c.2494G>C	1.37:g.183515224G>C	ENSP00000340766:p.Glu832Gln					SMG7_uc010pob.1_Missense_Mutation_p.E815Q|SMG7_uc001gqf.2_Missense_Mutation_p.E786Q|SMG7_uc001gqh.2_Missense_Mutation_p.E786Q|SMG7_uc001gqi.2_Missense_Mutation_p.E744Q|SMG7_uc010poc.1_Missense_Mutation_p.E790Q	p.E832Q	NM_173156	NP_775179	Q92540	SMG7_HUMAN			17	2616	+			832			Gln/Pro-rich.		B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Missense_Mutation	SNP	ENST00000347615.2	37	c.2494G>C	CCDS1355.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.618545	0.87460	.	.	ENSG00000116698	ENST00000456731;ENST00000367537;ENST00000508461;ENST00000419169;ENST00000347615;ENST00000507469;ENST00000515829	T;T;T;T;T;T;T	0.51817	0.69;0.69;0.69;0.69;0.69;0.69;0.69	5.62	5.62	0.85841	.	0.365802	0.31358	N	0.007792	T	0.56659	0.2000	L	0.29908	0.895	0.58432	D	0.999991	D;D;D;D;D;D	0.69078	0.997;0.993;0.997;0.996;0.997;0.993	D;D;D;D;D;D	0.78314	0.986;0.979;0.986;0.991;0.986;0.979	T	0.45056	-0.9287	10	0.12430	T	0.62	-14.276	19.6614	0.95875	0.0:0.0:1.0:0.0	.	790;815;744;786;832;786	E9PCI0;E9PD50;E9PCE5;Q92540-2;Q92540;E9PEH2	.;.;.;.;SMG7_HUMAN;.	Q	744;815;790;744;832;786;786	ENSP00000407629:E744Q;ENSP00000356507:E815Q;ENSP00000426915:E790Q;ENSP00000388390:E744Q;ENSP00000340766:E832Q;ENSP00000425133:E786Q;ENSP00000421358:E786Q	ENSP00000340766:E832Q	E	+	1	0	SMG7	181781847	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.948000	0.75965	2.633000	0.89246	0.655000	0.94253	GAG		0.463	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000085432.1		NM_014837		16	55	0	0	0	1	0	16	55		
EDEM3	80267	broad.mit.edu	37	1	184686740	184686740	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:184686740G>C	ENST00000318130.8	-	12	1445	c.1179C>G	c.(1177-1179)ttC>ttG	p.F393L	EDEM3_ENST00000367512.3_Missense_Mutation_p.F350L	NM_025191.3	NP_079467.3	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like 3	393					cellular protein metabolic process (GO:0044267)|glycoprotein catabolic process (GO:0006516)|post-translational protein modification (GO:0043687)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|glycoprotein endo-alpha-1,2-mannosidase activity (GO:0004569)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						AGTGTACTCTGAAATCTGTGG	0.294																																						uc010pok.1		NaN																	0				skin(1)	1						c.(1177-1179)TTC>TTG		ER degradation enhancer, mannosidase alpha-like							76.0	82.0	80.0					1																	184686740		2203	4299	6502	SO:0001583	missense	80267				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding	g.chr1:184686740G>C	AF288393	CCDS1363.2	1q25	2008-02-05	2006-03-31	2006-03-31	ENSG00000116406	ENSG00000116406			16787	protein-coding gene	gene with protein product		610214	"""chromosome 1 open reading frame 22"""	C1orf22		15537790, 15579471	Standard	NM_025191		Approved		uc010pok.2	Q9BZQ6	OTTHUMG00000035387	ENST00000318130.8:c.1179C>G	1.37:g.184686740G>C	ENSP00000318147:p.Phe393Leu					EDEM3_uc010pol.1_RNA|EDEM3_uc010pom.1_Missense_Mutation_p.F393L	p.F393L	NM_025191	NP_079467	Q9BZQ6	EDEM3_HUMAN			12	1440	-			393					B2RCH6|B7ZLZ2|Q0VGM5|Q5TEZ0|Q9HCW1|Q9UFV7	Missense_Mutation	SNP	ENST00000318130.8	37	c.1179C>G	CCDS1363.2	.	.	.	.	.	.	.	.	.	.	G	14.31	2.495807	0.44352	.	.	ENSG00000116406	ENST00000318130;ENST00000367512	T;T	0.40476	1.03;1.03	4.99	3.12	0.35913	.	0.000000	0.85682	D	0.000000	T	0.33265	0.0857	L	0.39326	1.205	0.80722	D	1	B	0.20368	0.044	B	0.27887	0.084	T	0.07597	-1.0764	10	0.30854	T	0.27	.	9.6671	0.39992	0.2264:0.0:0.7736:0.0	.	393	Q9BZQ6	EDEM3_HUMAN	L	393;350	ENSP00000318147:F393L;ENSP00000356482:F350L	ENSP00000318147:F393L	F	-	3	2	EDEM3	182953363	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.346000	0.44027	0.616000	0.30141	0.585000	0.79938	TTC		0.294	EDEM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085785.3		NM_025191		7	18	0	0	0	1	0	7	18		
HMCN1	83872	broad.mit.edu	37	1	186083224	186083224	+	Missense_Mutation	SNP	G	G	T	rs138705216	byFrequency	TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:186083224G>T	ENST00000271588.4	+	73	11474	c.11245G>T	c.(11245-11247)Gat>Tat	p.D3749Y	HMCN1_ENST00000367492.2_Missense_Mutation_p.D3749Y	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3749	Ig-like C2-type 36.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ATGGAGAAAGGATGGAGCTGT	0.388																																						uc001grq.1		NaN																	0				ovary(22)|skin(1)	23						c.(11245-11247)GAT>TAT		hemicentin 1 precursor							102.0	111.0	108.0					1																	186083224		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186083224G>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.11245G>T	1.37:g.186083224G>T	ENSP00000271588:p.Asp3749Tyr						p.D3749Y	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			73	11474	+			3749			Ig-like C2-type 36.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.11245G>T	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	18.22	3.575469	0.65878	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.75938	-0.98;-0.98	5.08	5.08	0.68730	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.145321	0.64402	D	0.000008	D	0.88426	0.6433	M	0.86864	2.845	0.51482	D	0.999928	D	0.89917	1.0	D	0.91635	0.999	D	0.90219	0.4270	10	0.72032	D	0.01	.	18.8546	0.92246	0.0:0.0:1.0:0.0	.	3749	Q96RW7	HMCN1_HUMAN	Y	3749	ENSP00000271588:D3749Y;ENSP00000356462:D3749Y	ENSP00000271588:D3749Y	D	+	1	0	HMCN1	184349847	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.288000	0.65651	2.518000	0.84900	0.655000	0.94253	GAT		0.388	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1		NM_031935		38	35	1	0	9.8876e-21	1	1.10381e-20	38	35		
F13B	2165	broad.mit.edu	37	1	197019986	197019986	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:197019986G>A	ENST00000367412.1	-	10	1622	c.1579C>T	c.(1579-1581)Cct>Tct	p.P527S	F13B_ENST00000490002.1_5'Flank	NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	527	Sushi 9. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)	extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						ATAAGAGGAGGAGATGTGCAC	0.333																																						uc001gtt.1		NaN																	0				upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						c.(1579-1581)CCT>TCT		coagulation factor XIII B subunit precursor							101.0	100.0	101.0					1																	197019986		2203	4300	6503	SO:0001583	missense	2165				blood coagulation	extracellular region		g.chr1:197019986G>A	M14057	CCDS1388.1	1q31-q32.1	2012-10-02			ENSG00000143278	ENSG00000143278			3534	protein-coding gene	gene with protein product		134580				2339067, 2271707	Standard	NM_001994		Approved	FXIIIB	uc001gtt.1	P05160	OTTHUMG00000036519	ENST00000367412.1:c.1579C>T	1.37:g.197019986G>A	ENSP00000356382:p.Pro527Ser						p.P527S	NM_001994	NP_001985	P05160	F13B_HUMAN			10	1623	-			527			Sushi 9.		A8K3E5|Q5VYL5	Missense_Mutation	SNP	ENST00000367412.1	37	c.1579C>T	CCDS1388.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.044934	0.75846	.	.	ENSG00000143278	ENST00000367412	D	0.84516	-1.86	5.68	5.68	0.88126	Complement control module (3);Sushi/SCR/CCP (3);	0.264226	0.20238	N	0.096352	D	0.95166	0.8433	H	0.95679	3.705	0.51767	D	0.99993	D	0.89917	1.0	D	0.76071	0.987	D	0.95906	0.8919	10	0.72032	D	0.01	.	19.7908	0.96456	0.0:0.0:1.0:0.0	.	527	P05160	F13B_HUMAN	S	527	ENSP00000356382:P527S	ENSP00000356382:P527S	P	-	1	0	F13B	195286609	1.000000	0.71417	0.964000	0.40570	0.759000	0.43091	6.371000	0.73119	2.682000	0.91365	0.591000	0.81541	CCT		0.333	F13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088821.2		NM_001994		16	21	0	0	0	1	0	16	21		
CAMSAP2	23271	broad.mit.edu	37	1	200708985	200708985	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:200708985G>C	ENST00000236925.4	+	1	79	c.30G>C	c.(28-30)atG>atC	p.M10I	CAMSAP2_ENST00000413307.2_Missense_Mutation_p.M10I|CAMSAP2_ENST00000358823.2_Missense_Mutation_p.M10I			Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	10					microtubule cytoskeleton organization (GO:0000226)|regulation of organelle organization (GO:0033043)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)	microtubule minus-end binding (GO:0051011)										CCAGGGAGATGAGAAAGACGT	0.592																																						uc001gvl.2		NaN																	0				ovary(2)|large_intestine(1)|pancreas(1)	4						c.(28-30)ATG>ATC		calmodulin regulated spectrin-associated protein							113.0	94.0	101.0					1																	200708985		2203	4300	6503	SO:0001583	missense	23271					cytoplasm|microtubule	protein binding	g.chr1:200708985G>C	AB029001	CCDS1404.1, CCDS72998.1, CCDS72999.1	1q32	2011-08-18	2011-08-18	2011-08-18	ENSG00000118200	ENSG00000118200			29188	protein-coding gene	gene with protein product		613775	"""calmodulin regulated spectrin-associated protein 1-like 1"""	CAMSAP1L1		15897902, 19508979	Standard	XM_005245040		Approved	KIAA1078	uc001gvk.3	Q08AD1	OTTHUMG00000035740	ENST00000236925.4:c.30G>C	1.37:g.200708985G>C	ENSP00000236925:p.Met10Ile					CAMSAP1L1_uc001gvk.2_Missense_Mutation_p.M10I|CAMSAP1L1_uc001gvm.2_Missense_Mutation_p.M10I	p.M10I	NM_203459	NP_982284	Q08AD1	CAMP2_HUMAN			1	300	+			10					B1APG6|Q08AD2|Q6PGN8|Q96FB3|Q9UG20|Q9UPS4	Missense_Mutation	SNP	ENST00000236925.4	37	c.30G>C		.	.	.	.	.	.	.	.	.	.	G	8.340	0.828456	0.16749	.	.	ENSG00000118200	ENST00000358823;ENST00000413307;ENST00000236925	T;T;T	0.14516	2.5;2.52;2.51	3.49	2.55	0.30701	.	0.551148	0.17975	N	0.155728	T	0.08980	0.0222	N	0.24115	0.695	0.27375	N	0.955587	B;B;B	0.10296	0.0;0.002;0.003	B;B;B	0.12156	0.002;0.001;0.007	T	0.32613	-0.9900	10	0.12766	T	0.61	-0.1554	12.591	0.56443	0.0:0.1686:0.8314:0.0	.	10;10;10	Q08AD1-2;Q08AD1;Q08AD1-3	.;CAMP2_HUMAN;.	I	10	ENSP00000351684:M10I;ENSP00000416800:M10I;ENSP00000236925:M10I	ENSP00000236925:M10I	M	+	3	0	CAMSAP1L1	198975608	0.996000	0.38824	0.005000	0.12908	0.980000	0.70556	1.737000	0.38197	0.632000	0.30432	0.561000	0.74099	ATG		0.592	CAMSAP2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000086956.2		NM_203459		7	14	0	0	0	1	0	7	14		
BTG2	7832	broad.mit.edu	37	1	203276294	203276294	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:203276294C>G	ENST00000290551.4	+	2	276	c.205C>G	c.(205-207)Cgc>Ggc	p.R69G	RP11-134P9.1_ENST00000457348.1_lincRNA	NM_006763.2	NP_006754.1	P78543	BTG2_HUMAN	BTG family, member 2	69					anterior/posterior pattern specification (GO:0009952)|associative learning (GO:0008306)|cellular response to DNA damage stimulus (GO:0006974)|central nervous system neuron development (GO:0021954)|dentate gyrus development (GO:0021542)|DNA repair (GO:0006281)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of translation (GO:0017148)|neuron projection development (GO:0031175)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|protein methylation (GO:0006479)|response to electrical stimulus (GO:0051602)|response to mechanical stimulus (GO:0009612)|response to organic cyclic compound (GO:0014070)|response to peptide hormone (GO:0043434)|skeletal muscle cell differentiation (GO:0035914)	extracellular vesicular exosome (GO:0070062)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.R69G(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(75;0.203)			CCGCTGCATTCGCATCAACCA	0.612																																						uc001gzq.2		NaN																	1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)|skin(1)	3						c.(205-207)CGC>GGC		B-cell translocation gene 2							47.0	49.0	48.0					1																	203276294		2203	4300	6503	SO:0001583	missense	7832				DNA repair|neuron projection development|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr1:203276294C>G		CCDS1437.1	1q32	2008-07-18			ENSG00000159388	ENSG00000159388			1131	protein-coding gene	gene with protein product	"""B-cell translocation gene 2"", ""pheochromacytoma cell-3"", ""NGF-inducible anti-proliferative protein PC3"", ""nerve growth factor-inducible anti-proliferative"""	601597				8944033	Standard	NM_006763		Approved	PC3, TIS21, MGC126063, MGC126064	uc001gzq.3	P78543	OTTHUMG00000035834	ENST00000290551.4:c.205C>G	1.37:g.203276294C>G	ENSP00000290551:p.Arg69Gly					FMOD_uc010pqi.1_Intron|uc009xao.1_5'Flank|uc001gzp.1_5'Flank|BTG2_uc009xap.1_RNA	p.R69G	NM_006763	NP_006754	P78543	BTG2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.203)		2	276	+			69					A0A024R986|Q3KR25|Q5VUT0	Missense_Mutation	SNP	ENST00000290551.4	37	c.205C>G	CCDS1437.1	.	.	.	.	.	.	.	.	.	.	C	18.90	3.720715	0.68959	.	.	ENSG00000159388	ENST00000290551	T	0.28255	1.62	4.53	3.62	0.41486	Anti-proliferative protein (4);	0.075950	0.51477	D	0.000097	T	0.61173	0.2326	H	0.94503	3.545	0.47584	D	0.999465	D	0.89917	1.0	D	0.97110	1.0	T	0.65459	-0.6163	10	0.87932	D	0	-17.6794	6.666	0.23041	0.1762:0.731:0.0:0.0928	.	69	P78543	BTG2_HUMAN	G	69	ENSP00000290551:R69G	ENSP00000290551:R69G	R	+	1	0	BTG2	201542917	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	3.455000	0.52993	1.140000	0.42260	0.313000	0.20887	CGC		0.612	BTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087168.1		NM_006763		15	19	0	0	0	1	0	15	19		
PIK3C2B	5287	broad.mit.edu	37	1	204400860	204400860	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:204400860A>G	ENST00000367187.3	-	29	4773	c.4217T>C	c.(4216-4218)tTt>tCt	p.F1406S	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.F1378S|RP11-739N20.2_ENST00000443515.1_RNA	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	1406	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GAACTCCTCAAAGGTCCGCTG	0.527											OREG0014134	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001haw.2		NaN																	0				lung(2)|breast(2)|stomach(1)|prostate(1)|central_nervous_system(1)	7						c.(4216-4218)TTT>TCT		phosphoinositide-3-kinase, class 2 beta							201.0	177.0	185.0					1																	204400860		2203	4300	6503	SO:0001583	missense	5287				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding	g.chr1:204400860A>G	Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"""phosphoinositide-3-kinase, class 2, beta polypeptide"""			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.4217T>C	1.37:g.204400860A>G	ENSP00000356155:p.Phe1406Ser		OREG0014134	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2144	PIK3C2B_uc010pqv.1_Missense_Mutation_p.F1378S	p.F1406S	NM_002646	NP_002637	O00750	P3C2B_HUMAN	GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)		29	4696	-	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		1406			PX.		O95666|Q5SW99	Missense_Mutation	SNP	ENST00000367187.3	37	c.4217T>C	CCDS1446.1	.	.	.	.	.	.	.	.	.	.	A	29.4	4.999817	0.93227	.	.	ENSG00000133056	ENST00000367187;ENST00000424712	T;T	0.72167	-0.63;-0.63	5.79	5.79	0.91817	Phox homologous domain (5);	0.000000	0.85682	D	0.000000	D	0.85301	0.5665	M	0.82716	2.605	0.52501	D	0.999951	D;D	0.89917	0.999;1.0	D;D	0.91635	0.991;0.999	D	0.87498	0.2431	10	0.87932	D	0	.	15.7939	0.78394	1.0:0.0:0.0:0.0	.	1378;1406	F5GWN5;O00750	.;P3C2B_HUMAN	S	1406;1378	ENSP00000356155:F1406S;ENSP00000400561:F1378S	ENSP00000356155:F1406S	F	-	2	0	PIK3C2B	202667483	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	9.204000	0.95041	2.219000	0.72066	0.460000	0.39030	TTT		0.527	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087965.1		NM_002646		7	134	0	0	0	1	0	7	134		
PIK3C2B	5287	broad.mit.edu	37	1	204438084	204438084	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:204438084G>A	ENST00000367187.3	-	3	1403	c.847C>T	c.(847-849)Cag>Tag	p.Q283*	PIK3C2B_ENST00000424712.2_Nonsense_Mutation_p.Q283*	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	283	Interaction with GRB2.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GGGGGCACCTGAGGGGGCATA	0.642																																						uc001haw.2		NaN																	0				lung(2)|breast(2)|stomach(1)|prostate(1)|central_nervous_system(1)	7						c.(847-849)CAG>TAG		phosphoinositide-3-kinase, class 2 beta							63.0	72.0	69.0					1																	204438084		2203	4300	6503	SO:0001587	stop_gained	5287				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding	g.chr1:204438084G>A	Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"""phosphoinositide-3-kinase, class 2, beta polypeptide"""			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.847C>T	1.37:g.204438084G>A	ENSP00000356155:p.Gln283*					PIK3C2B_uc010pqv.1_Nonsense_Mutation_p.Q283*|PIK3C2B_uc001hax.1_Nonsense_Mutation_p.Q283*|PIK3C2B_uc009xbd.1_RNA	p.Q283*	NM_002646	NP_002637	O00750	P3C2B_HUMAN	GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)		3	1326	-	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		283			Interaction with GRB2.		O95666|Q5SW99	Nonsense_Mutation	SNP	ENST00000367187.3	37	c.847C>T	CCDS1446.1	.	.	.	.	.	.	.	.	.	.	G	41	9.136193	0.99077	.	.	ENSG00000133056	ENST00000367187;ENST00000424712	.	.	.	5.5	5.5	0.81552	.	0.203490	0.35495	N	0.003176	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	.	17.2318	0.86987	0.0:0.0:1.0:0.0	.	.	.	.	X	283	.	ENSP00000356155:Q283X	Q	-	1	0	PIK3C2B	202704707	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.776000	0.91776	2.593000	0.87608	0.456000	0.33151	CAG		0.642	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087965.1		NM_002646		23	79	0	0	0	1	0	23	79		
INTS7	25896	broad.mit.edu	37	1	212120009	212120009	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:212120009C>T	ENST00000366994.3	-	18	2459	c.2355G>A	c.(2353-2355)ctG>ctA	p.L785L	INTS7_ENST00000366992.3_Intron|INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000440600.2_Silent_p.L736L|INTS7_ENST00000366993.3_Silent_p.L771L	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	785					cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|snRNA processing (GO:0016180)	chromosome (GO:0005694)|integrator complex (GO:0032039)				NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		GGGGAACTTTCAGCAAAGCAA	0.343																																						uc001hiw.1		NaN																	0					0						c.(2353-2355)CTG>CTA		integrator complex subunit 7							70.0	73.0	72.0					1																	212120009		2203	4300	6503	SO:0001819	synonymous_variant	25896				snRNA processing	integrator complex	protein binding	g.chr1:212120009C>T	AK022509	CCDS1501.1, CCDS55684.1, CCDS55683.1, CCDS55685.1	1q32.3	2008-02-05	2006-03-15	2006-03-15	ENSG00000143493	ENSG00000143493			24484	protein-coding gene	gene with protein product		611350	"""chromosome 1 open reading frame 73"""	C1orf73		16239144	Standard	NM_015434		Approved	DKFZP434B168, INT7	uc001hiw.2	Q9NVH2	OTTHUMG00000037119	ENST00000366994.3:c.2355G>A	1.37:g.212120009C>T						INTS7_uc009xdb.1_Intron|INTS7_uc001hix.1_Silent_p.L661L|INTS7_uc001hiy.1_Silent_p.L771L|INTS7_uc010pta.1_Silent_p.L736L	p.L785L	NM_015434	NP_056249	Q9NVH2	INT7_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)	18	2460	-			785					B4DLZ6|B7WNP6|B7WPB6|Q8N4K7|Q8WUH5|Q9H9V3|Q9NVU5|Q9UFC6|Q9UFM3	Silent	SNP	ENST00000366994.3	37	c.2355G>A	CCDS1501.1																																																																																				0.343	INTS7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090142.1		NM_015434		41	25	0	0	0	1	0	41	25		
PTPN14	5784	broad.mit.edu	37	1	214542945	214542945	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:214542945C>T	ENST00000366956.5	-	17	3320	c.3126G>A	c.(3124-3126)acG>acA	p.T1042T	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	1042	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				lymphangiogenesis (GO:0001946)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of protein export from nucleus (GO:0046825)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		TTCGAAACTTCGTGGTGACCT	0.488																																					Colon(92;557 1424 24372 34121 40073)	uc001hkk.1		NaN																	0				breast(2)|ovary(1)|kidney(1)|skin(1)	5						c.(3124-3126)ACG>ACA		protein tyrosine phosphatase, non-receptor type							263.0	239.0	247.0					1																	214542945		2203	4300	6503	SO:0001819	synonymous_variant	5784				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding	g.chr1:214542945C>T	X82676	CCDS1514.1	1q32.2	2011-06-09			ENSG00000152104	ENSG00000152104		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9647	protein-coding gene	gene with protein product		603155				7733990	Standard	NM_005401		Approved	PEZ	uc001hkk.2	Q15678	OTTHUMG00000037039	ENST00000366956.5:c.3126G>A	1.37:g.214542945C>T							p.T1042T	NM_005401	NP_005392	Q15678	PTN14_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)	17	3397	-			1042			Tyrosine-protein phosphatase.		Q5VSI0	Silent	SNP	ENST00000366956.5	37	c.3126G>A	CCDS1514.1																																																																																				0.488	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089918.2		NM_005401		67	153	0	0	0	1	0	67	153		
IARS2	55699	broad.mit.edu	37	1	220273958	220273958	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:220273958C>G	ENST00000302637.5	+	3	621	c.517C>G	c.(517-519)Cag>Gag	p.Q173E	IARS2_ENST00000366922.1_Missense_Mutation_p.Q101E	NM_018060.3	NP_060530.3	Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	173					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)			NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	TAGAGAAGCTCAGAATCTTTC	0.348																																						uc001hmc.2		NaN																	0				ovary(2)|skin(2)	4						c.(517-519)CAG>GAG		mitochondrial isoleucine tRNA synthetase	L-Isoleucine(DB00167)						60.0	65.0	63.0					1																	220273958		2203	4300	6503	SO:0001583	missense	55699				isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity	g.chr1:220273958C>G	AK022665	CCDS1523.1	1q41	2011-07-01	2007-02-26		ENSG00000067704	ENSG00000067704	6.1.1.5	"""Aminoacyl tRNA synthetases / Class I"""	29685	protein-coding gene	gene with protein product	"""isoleucine tRNA ligase 2, mitochondrial"""	612801					Standard	NM_018060		Approved	FLJ10326	uc001hmc.3	Q9NSE4	OTTHUMG00000037287	ENST00000302637.5:c.517C>G	1.37:g.220273958C>G	ENSP00000303279:p.Gln173Glu						p.Q173E	NM_018060	NP_060530	Q9NSE4	SYIM_HUMAN		GBM - Glioblastoma multiforme(131;0.0554)	3	621	+			173					B2RPG8|Q1M2P9|Q6PI85|Q7L439|Q86WU9|Q96D91|Q9H9Q8|Q9NW42	Missense_Mutation	SNP	ENST00000302637.5	37	c.517C>G	CCDS1523.1	.	.	.	.	.	.	.	.	.	.	C	9.641	1.139090	0.21205	.	.	ENSG00000067704	ENST00000366922;ENST00000302637	T;T	0.34072	1.38;1.38	5.95	5.95	0.96441	Rossmann-like alpha/beta/alpha sandwich fold (1);Aminoacyl-tRNA synthetase, class Ia (1);	0.198284	0.56097	D	0.000038	T	0.18676	0.0448	N	0.05592	-0.015	0.32918	D	0.515391	B	0.09022	0.002	B	0.09377	0.004	T	0.11299	-1.0593	10	0.07175	T	0.84	-0.144	14.738	0.69430	0.0:0.7462:0.2538:0.0	.	173	Q9NSE4	SYIM_HUMAN	E	101;173	ENSP00000355889:Q101E;ENSP00000303279:Q173E	ENSP00000303279:Q173E	Q	+	1	0	IARS2	218340581	1.000000	0.71417	1.000000	0.80357	0.791000	0.44710	1.730000	0.38125	2.824000	0.97209	0.655000	0.94253	CAG		0.348	IARS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_018060		10	37	0	0	0	1	0	10	37		
FAM177B	400823	broad.mit.edu	37	1	222923383	222923383	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:222923383G>A	ENST00000445590.2	+	6	726	c.460G>A	c.(460-462)Gag>Aag	p.E154K	FAM177B_ENST00000360827.2_Missense_Mutation_p.E154K	NM_207468.2	NP_997351.2	A6PVY3	F177B_HUMAN	family with sequence similarity 177, member B	154										breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	8						GGATGTGACAGAGGCCATTCC	0.522																																						uc001hnt.2		NaN																	0				ovary(1)	1						c.(460-462)GAG>AAG		hypothetical protein LOC400823							99.0	99.0	99.0					1																	222923383		2019	4190	6209	SO:0001583	missense	400823							g.chr1:222923383G>A	AK125494	CCDS1535.2	1q41	2008-08-08			ENSG00000197520	ENSG00000197520			34395	protein-coding gene	gene with protein product							Standard	NM_207468		Approved	RP11-452F19.2, FLJ43505	uc001hnt.3	A6PVY3	OTTHUMG00000037766	ENST00000445590.2:c.460G>A	1.37:g.222923383G>A	ENSP00000414451:p.Glu154Lys					uc001hnr.1_Intron|FAM177B_uc009xeb.2_RNA	p.E154K	NM_207468	NP_997351	A6PVY3	F177B_HUMAN			6	726	+			154					Q6ZUN8	Missense_Mutation	SNP	ENST00000445590.2	37	c.460G>A	CCDS1535.2	.	.	.	.	.	.	.	.	.	.	g	9.726	1.160939	0.21538	.	.	ENSG00000197520	ENST00000445590;ENST00000360827	T;T	0.29142	1.58;1.58	5.37	2.3	0.28687	.	.	.	.	.	T	0.18676	0.0448	N	0.22421	0.69	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.19192	-1.0313	9	0.51188	T	0.08	0.2814	5.0226	0.14369	0.1871:0.1722:0.6407:0.0	.	154	A6PVY3	F177B_HUMAN	K	154	ENSP00000414451:E154K;ENSP00000354070:E154K	ENSP00000354070:E154K	E	+	1	0	FAM177B	220990006	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.133000	0.10451	0.623000	0.30267	0.655000	0.94253	GAG		0.522	FAM177B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092151.2		NM_207468		14	53	0	0	0	1	0	14	53		
CNIH3	149111	broad.mit.edu	37	1	224804936	224804936	+	Silent	SNP	C	C	T	rs373044474		TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:224804936C>T	ENST00000272133.3	+	1	942	c.60C>T	c.(58-60)ctC>ctT	p.L20L	RP11-100E13.1_ENST00000437416.1_RNA	NM_152495.1	NP_689708.1	Q8TBE1	CNIH3_HUMAN	cornichon family AMPA receptor auxiliary protein 3	20					intracellular signal transduction (GO:0035556)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of membrane potential (GO:0042391)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendritic shaft (GO:0043198)|postsynaptic membrane (GO:0045211)	channel regulator activity (GO:0016247)			large_intestine(5)|lung(4)	9	Breast(184;0.218)			GBM - Glioblastoma multiforme(131;0.073)		GCGCTGCGCTCATCTTCTTCG	0.557																																						uc001hos.1		NaN																	0					0						c.(58-60)CTC>CTT		cornichon homolog 3		C		0,4406		0,0,2203	312.0	295.0	300.0		60	3.9	1.0	1		300	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CNIH3	NM_152495.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		20/161	224804936	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	149111				intracellular signal transduction|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic shaft|postsynaptic membrane		g.chr1:224804936C>T	AF070524	CCDS1544.1	1q42.12	2013-08-28	2013-08-28		ENSG00000143786	ENSG00000143786			26802	protein-coding gene	gene with protein product			"""cornichon homolog 3 (Drosophila)"""			8619474, 9110174	Standard	NM_152495		Approved	FLJ38993, CNIH-3	uc001hos.1	Q8TBE1	OTTHUMG00000037634	ENST00000272133.3:c.60C>T	1.37:g.224804936C>T							p.L20L	NM_152495	NP_689708	Q8TBE1	CNIH3_HUMAN		GBM - Glioblastoma multiforme(131;0.073)	1	758	+	Breast(184;0.218)		20			Helical; (Potential).			Silent	SNP	ENST00000272133.3	37	c.60C>T	CCDS1544.1																																																																																				0.557	CNIH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091752.2		NM_152495		37	178	0	0	0	1	0	37	178		
WNT3A	89780	broad.mit.edu	37	1	228210569	228210569	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:228210569C>T	ENST00000284523.1	+	2	351	c.273C>T	c.(271-273)gtC>gtT	p.V91V	WNT3A_ENST00000366753.2_Silent_p.V91V	NM_033131.3	NP_149122.1	P56704	WNT3A_HUMAN	wingless-type MMTV integration site family, member 3A	91					axis elongation involved in somitogenesis (GO:0090245)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:0061317)|cell proliferation in forebrain (GO:0021846)|cellular protein localization (GO:0034613)|cellular response to retinoic acid (GO:0071300)|COP9 signalosome assembly (GO:0010387)|dorsal/ventral neural tube patterning (GO:0021904)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|hemopoiesis (GO:0030097)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|mammary gland development (GO:0030879)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron projection development (GO:0010977)|neuron differentiation (GO:0030182)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|paraxial mesodermal cell fate commitment (GO:0048343)|platelet aggregation (GO:0070527)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of canonical Wnt signaling pathway involved in controlling type B pancreatic cell proliferation (GO:2000081)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of collateral sprouting in absence of injury (GO:0048697)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dermatome development (GO:0061184)|positive regulation of mesodermal cell fate specification (GO:0048337)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of receptor internalization (GO:0002092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|regulation of microtubule cytoskeleton organization (GO:0070507)|skeletal muscle cell differentiation (GO:0035914)|spinal cord association neuron differentiation (GO:0021527)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|transcription coactivator activity (GO:0003713)			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		Prostate(94;0.0405)				GCACCACCGTCCACGACAGCC	0.642																																						uc001hrq.1		NaN																	0				ovary(1)	1						c.(271-273)GTC>GTT		wingless-type MMTV integration site family,							42.0	44.0	44.0					1																	228210569		2203	4300	6503	SO:0001819	synonymous_variant	89780				axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity	g.chr1:228210569C>T	AB060284	CCDS1564.1	1q42	2013-02-28			ENSG00000154342	ENSG00000154342		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	15983	protein-coding gene	gene with protein product		606359				11414706	Standard	NM_033131		Approved		uc001hrq.2	P56704	OTTHUMG00000037593	ENST00000284523.1:c.273C>T	1.37:g.228210569C>T						WNT3A_uc001hrp.1_Silent_p.V91V	p.V91V	NM_033131	NP_149122	P56704	WNT3A_HUMAN			2	351	+		Prostate(94;0.0405)	91					Q3SY79|Q3SY80|Q969P2	Silent	SNP	ENST00000284523.1	37	c.273C>T	CCDS1564.1																																																																																				0.642	WNT3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091648.1		NM_033131		21	27	0	0	0	1	0	21	27		
OBSCN	84033	broad.mit.edu	37	1	228558384	228558384	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:228558384C>G	ENST00000422127.1	+	93	20215	c.20171C>G	c.(20170-20172)tCc>tGc	p.S6724C	OBSCN_ENST00000570156.2_Missense_Mutation_p.S7681C|OBSCN_ENST00000366707.4_Missense_Mutation_p.S4358C	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6724					apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TCCCAGAAATCCATGCCTGCG	0.632																																						uc009xez.1		NaN																	0				stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28						c.(20170-20172)TCC>TGC		obscurin, cytoskeletal calmodulin and							82.0	88.0	86.0					1																	228558384		2006	4171	6177	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228558384C>G	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.20171C>G	1.37:g.228558384C>G	ENSP00000409493:p.Ser6724Cys					OBSCN_uc001hsr.1_Missense_Mutation_p.S1353C	p.S6724C	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			93	20215	+		Prostate(94;0.0405)	6724					Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.20171C>G	CCDS58065.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.22|11.22	1.574198|1.574198	0.28092|0.28092	.|.	.|.	ENSG00000154358|ENSG00000154358	ENST00000441106|ENST00000422127;ENST00000366707	.|T;T	.|0.39997	.|1.05;1.05	4.9|4.9	4.9|4.9	0.64082|0.64082	.|Protein kinase-like domain (1);	.|.	.|.	.|.	.|.	T|T	0.44286|0.44286	0.1286|0.1286	L|L	0.38531|0.38531	1.155|1.155	0.31059|0.31059	N|N	0.714333|0.714333	.|D	.|0.63046	.|0.992	.|P	.|0.52710	.|0.707	T|T	0.49072|0.49072	-0.8977|-0.8977	5|9	.|0.62326	.|D	.|0.03	.|.	10.6168|10.6168	0.45456|0.45456	0.1916:0.8084:0.0:0.0|0.1916:0.8084:0.0:0.0	.|.	.|6724	.|Q5VST9	.|OBSCN_HUMAN	M|C	1340|6724;4358	.|ENSP00000409493:S6724C;ENSP00000355668:S4358C	.|ENSP00000355668:S4358C	I|S	+|+	3|2	3|0	OBSCN|OBSCN	226625007|226625007	.|.	.|.	0.213000|0.213000	0.23690|0.23690	0.097000|0.097000	0.18754|0.18754	.|.	.|.	2.547000|2.547000	0.85894|0.85894	0.462000|0.462000	0.41574|0.41574	ATC|TCC		0.632	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding			NM_052843		18	26	0	0	0	1	0	18	26		
CAPN9	10753	broad.mit.edu	37	1	230937333	230937333	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:230937333G>T	ENST00000271971.2	+	20	2177	c.2064G>T	c.(2062-2064)atG>atT	p.M688I	CAPN9_ENST00000366666.2_Missense_Mutation_p.M625I|CAPN9_ENST00000354537.1_Missense_Mutation_p.M662I|CAPN9_ENST00000480004.1_3'UTR	NM_006615.2	NP_006606.1	O14815	CAN9_HUMAN	calpain 9	688	Domain IV.				digestion (GO:0007586)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				ATTTGACAATGAACATCTGAG	0.532																																						uc001htz.1		NaN																	0				ovary(1)	1						c.(2062-2064)ATG>ATT		calpain 9 isoform 1							128.0	124.0	126.0					1																	230937333		2203	4300	6503	SO:0001583	missense	10753				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr1:230937333G>T	AF022799	CCDS1586.1, CCDS31053.1	1q42.11-q42.3	2013-01-10	2004-11-11		ENSG00000135773	ENSG00000135773		"""EF-hand domain containing"""	1486	protein-coding gene	gene with protein product	"""novel calpain large subunit-4"""	606401	"""calpain 9 (nCL-4)"""			9524069, 10835488	Standard	XM_005273010		Approved	nCL-4, GC36	uc001htz.1	O14815	OTTHUMG00000037779	ENST00000271971.2:c.2064G>T	1.37:g.230937333G>T	ENSP00000271971:p.Met688Ile					CAPN9_uc009xfg.1_Missense_Mutation_p.M625I|CAPN9_uc001hua.1_Missense_Mutation_p.M662I	p.M688I	NM_006615	NP_006606	O14815	CAN9_HUMAN			20	2177	+	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)	688			Domain IV.		B1APS1|B1AQI0|Q9NS74	Missense_Mutation	SNP	ENST00000271971.2	37	c.2064G>T	CCDS1586.1	.	.	.	.	.	.	.	.	.	.	G	12.64	1.998847	0.35226	.	.	ENSG00000135773	ENST00000271971;ENST00000354537;ENST00000366666	D;D;D	0.87809	-2.26;-2.3;-2.29	5.19	5.19	0.71726	.	0.083213	0.85682	D	0.000000	D	0.84777	0.5547	L	0.56199	1.76	0.58432	D	0.999998	B;B;B	0.32573	0.376;0.359;0.154	B;B;B	0.35312	0.114;0.2;0.098	T	0.83142	-0.0108	10	0.35671	T	0.21	.	14.1919	0.65644	0.0:0.0:1.0:0.0	.	625;662;688	E7ESS6;O14815-2;O14815	.;.;CAN9_HUMAN	I	688;662;625	ENSP00000271971:M688I;ENSP00000346538:M662I;ENSP00000355626:M625I	ENSP00000271971:M688I	M	+	3	0	CAPN9	229003956	1.000000	0.71417	1.000000	0.80357	0.310000	0.27922	4.594000	0.61041	2.428000	0.82296	0.542000	0.68232	ATG		0.532	CAPN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092179.1		NM_006615		22	63	1	0	1.22574e-08	1	1.29716e-08	22	63		
SIPA1L2	57568	broad.mit.edu	37	1	232564265	232564265	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:232564265C>G	ENST00000366630.1	-	16	4660	c.4302G>C	c.(4300-4302)caG>caC	p.Q1434H	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.Q1434H|SIPA1L2_ENST00000308942.4_Missense_Mutation_p.Q508H			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1434					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CCACCACTGTCTGATGCTGAG	0.443																																						uc001hvg.2		NaN																	0				ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6						c.(4300-4302)CAG>CAC		signal-induced proliferation-associated 1 like							82.0	75.0	77.0					1																	232564265		1931	4137	6068	SO:0001583	missense	57568				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr1:232564265C>G	AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.4302G>C	1.37:g.232564265C>G	ENSP00000355589:p.Gln1434His					SIPA1L2_uc001hvf.2_Missense_Mutation_p.Q508H	p.Q1434H	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN			15	4460	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	1434					Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	ENST00000366630.1	37	c.4302G>C	CCDS41474.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.627592	0.87560	.	.	ENSG00000116991	ENST00000366630;ENST00000262861;ENST00000308942	T;T;T	0.30182	1.54;1.54;1.54	5.86	4.95	0.65309	.	0.532279	0.20037	N	0.100597	T	0.33411	0.0862	L	0.46157	1.445	0.30236	N	0.795481	P;P	0.48589	0.912;0.786	P;P	0.47528	0.549;0.542	T	0.34976	-0.9807	10	0.66056	D	0.02	-12.6405	9.6319	0.39785	0.0:0.8024:0.0:0.1976	.	1434;508	Q9P2F8;Q9P2F8-2	SI1L2_HUMAN;.	H	1434;1434;508	ENSP00000355589:Q1434H;ENSP00000262861:Q1434H;ENSP00000309102:Q508H	ENSP00000262861:Q1434H	Q	-	3	2	SIPA1L2	230630888	0.959000	0.32827	0.050000	0.19076	0.849000	0.48306	1.800000	0.38833	1.493000	0.48517	0.655000	0.94253	CAG		0.443	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1		XM_045839		27	46	0	0	0	1	0	27	46		
SIPA1L2	57568	broad.mit.edu	37	1	232650028	232650028	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:232650028T>C	ENST00000366630.1	-	2	1416	c.1058A>G	c.(1057-1059)aAa>aGa	p.K353R	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.K353R			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	353					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GTTTTTCCTTTTCCCCACATT	0.493																																						uc001hvg.2		NaN																	0				ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6						c.(1057-1059)AAA>AGA		signal-induced proliferation-associated 1 like							95.0	97.0	97.0					1																	232650028		1941	4145	6086	SO:0001583	missense	57568				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr1:232650028T>C	AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.1058A>G	1.37:g.232650028T>C	ENSP00000355589:p.Lys353Arg						p.K353R	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN			1	1216	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	353					Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	ENST00000366630.1	37	c.1058A>G	CCDS41474.1	.	.	.	.	.	.	.	.	.	.	T	12.54	1.968432	0.34754	.	.	ENSG00000116991	ENST00000366630;ENST00000262861	T;T	0.79352	-1.26;-1.26	5.39	5.39	0.77823	.	0.055839	0.64402	D	0.000001	T	0.65739	0.2720	N	0.17674	0.51	0.40145	D	0.976878	B	0.25048	0.117	B	0.27715	0.082	T	0.62473	-0.6847	10	0.22109	T	0.4	-33.6436	15.5813	0.76445	0.0:0.0:0.0:1.0	.	353	Q9P2F8	SI1L2_HUMAN	R	353	ENSP00000355589:K353R;ENSP00000262861:K353R	ENSP00000262861:K353R	K	-	2	0	SIPA1L2	230716651	1.000000	0.71417	0.925000	0.36789	0.991000	0.79684	3.899000	0.56288	2.267000	0.75376	0.528000	0.53228	AAA		0.493	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1		XM_045839		20	87	0	0	0	1	0	20	87		
LYST	1130	broad.mit.edu	37	1	235887452	235887453	+	Missense_Mutation	DNP	GA	GA	TT			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:235887452_235887453GA>TT	ENST00000389794.3	-	39	9364_9365	c.9190_9191TC>AA	c.(9190-9192)TCa>AAa	p.S3064K	LYST_ENST00000389793.2_Missense_Mutation_p.S3064K|LYST_ENST00000473037.1_5'UTR			Q99698	LYST_HUMAN	lysosomal trafficking regulator	3064					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CCAGGAAAATGATGCTGGTTCC	0.327																																						uc001hxj.2		NaN																	0				ovary(6)|breast(4)|central_nervous_system(2)	12						c.(9190-9192)TCA>AAA		lysosomal trafficking regulator																																				SO:0001583	missense	1130	Chediak-Higashi_syndrome			defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235887452_235887453GA>TT	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.9190_9191delinsTT	1.37:g.235887452_235887453delinsTT	ENSP00000374444:p.Ser3064Lys					LYST_uc001hxi.2_Missense_Mutation_p.S288K	p.S3064K	NM_000081	NP_000072	Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		39	9365_9366	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	3064					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	DNP	ENST00000389794.3	37	c.9190_9191TC>AA	CCDS31062.1																																																																																				0.327	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5				14	161	0	0	0	1	0	14	161		
ACTN2	88	broad.mit.edu	37	1	236899015	236899015	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:236899015G>A	ENST00000366578.4	+	8	944	c.778G>A	c.(778-780)Gag>Aag	p.E260K	ACTN2_ENST00000542672.1_Intron|ACTN2_ENST00000546208.1_Intron|ACTN2_ENST00000492634.1_3'UTR	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	260					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			TGCGGGCGCGGAGCAGGTACT	0.498																																						uc001hyf.2		NaN																	0				ovary(4)|skin(1)	5						c.(778-780)GAG>AAG		actinin, alpha 2							148.0	109.0	122.0					1																	236899015		2203	4300	6503	SO:0001583	missense	88				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding	g.chr1:236899015G>A	BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"""EF-hand domain containing"""	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.778G>A	1.37:g.236899015G>A	ENSP00000355537:p.Glu260Lys					ACTN2_uc001hyg.2_Missense_Mutation_p.E15K|ACTN2_uc009xgi.1_Intron|ACTN2_uc010pxu.1_Intron	p.E260K	NM_001103	NP_001094	P35609	ACTN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00168)		8	982	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	260					B1ANE4|B2RCS5|Q86TF4|Q86TI8	Missense_Mutation	SNP	ENST00000366578.4	37	c.778G>A	CCDS1613.1	.	.	.	.	.	.	.	.	.	.	G	16.94	3.259733	0.59321	.	.	ENSG00000077522	ENST00000366578	T	0.78816	-1.21	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.62097	0.2400	N	0.04260	-0.245	0.80722	D	1	B	0.23316	0.083	B	0.17722	0.019	T	0.60667	-0.7218	10	0.56958	D	0.05	.	19.4894	0.95044	0.0:0.0:1.0:0.0	.	260	P35609	ACTN2_HUMAN	K	260	ENSP00000355537:E260K	ENSP00000355537:E260K	E	+	1	0	ACTN2	234965638	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.588000	0.74076	2.677000	0.91161	0.650000	0.86243	GAG		0.498	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096628.1		NM_001103		26	15	0	0	0	1	0	26	15		
FH	2271	broad.mit.edu	37	1	241663871	241663871	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:241663871G>A	ENST00000366560.3	-	9	1294	c.1256C>T	c.(1255-1257)tCa>tTa	p.S419L		NM_000143.3	NP_000134.2	P07954	FUMH_HUMAN	fumarate hydratase	419					cellular metabolic process (GO:0044237)|fumarate metabolic process (GO:0006106)|homeostasis of number of cells within a tissue (GO:0048873)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|tricarboxylic acid cycle enzyme complex (GO:0045239)	fumarate hydratase activity (GO:0004333)			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(2)	26	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)		CAGCCTGGCTGAGTGTAACAC	0.438			"""Mis, N, F"""			"""lieomyomatosis, renal"""			Hereditary Leiomyomatosis and Renal Cell Cancer																												Melanoma(148;1573 2486 7381 46575)	uc001hyx.2		NaN	yes	Rec		hereditary leiomyomatosis and renal cell cancer	1	1q42.1	2271	Mis|N|F	fumarate hydratase			"""E, M"""		lieomyomatosis|renal			0				lung(3)|ovary(1)|skin(1)	5						c.(1255-1257)TCA>TTA		fumarate hydratase precursor							81.0	78.0	79.0					1																	241663871		2203	4300	6503	SO:0001583	missense	2271	Hereditary_Leiomyomatosis_and_Renal_Cell_Cancer	Familial Cancer Database	HLRCC, Reed syndrome, Hereditary Multiple Leiomyomata of Skin and Uterus	fumarate metabolic process|tricarboxylic acid cycle	cell junction|mitochondrial matrix|tricarboxylic acid cycle enzyme complex	fumarate hydratase activity	g.chr1:241663871G>A	BC003108	CCDS1617.1	1q42.1	2014-09-17			ENSG00000091483	ENSG00000091483	4.2.1.2		3700	protein-coding gene	gene with protein product		136850					Standard	NM_000143		Approved	fumarase	uc001hyx.3	P07954	OTTHUMG00000039597	ENST00000366560.3:c.1256C>T	1.37:g.241663871G>A	ENSP00000355518:p.Ser419Leu						p.S419L	NM_000143	NP_000134	P07954	FUMH_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)	9	1288	-	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	419					B1ANK7	Missense_Mutation	SNP	ENST00000366560.3	37	c.1256C>T	CCDS1617.1	.	.	.	.	.	.	.	.	.	.	G	31	5.081285	0.94050	.	.	ENSG00000091483	ENST00000366560	D	0.96913	-4.17	5.71	5.71	0.89125	L-Aspartase-like (1);	0.129744	0.53938	D	0.000042	D	0.98899	0.9627	H	0.97758	4.07	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99482	1.0948	10	0.87932	D	0	-25.2891	17.3485	0.87316	0.0:0.0:1.0:0.0	.	419	P07954	FUMH_HUMAN	L	419	ENSP00000355518:S419L	ENSP00000355518:S419L	S	-	2	0	FH	239730494	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.537000	0.82033	2.697000	0.92050	0.655000	0.94253	TCA		0.438	FH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095490.1		NM_000143		51	24	0	0	0	1	0	51	24		
KMO	8564	broad.mit.edu	37	1	241714300	241714300	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:241714300C>G	ENST00000366559.4	+	4	579	c.268C>G	c.(268-270)Ctt>Gtt	p.L90V	KMO_ENST00000366557.4_Missense_Mutation_p.L90V|KMO_ENST00000484628.1_3'UTR|KMO_ENST00000366558.3_Missense_Mutation_p.L90V	NM_003679.4	NP_003670.2			kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)											NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Ovarian(103;0.103)|all_lung(81;0.23)		OV - Ovarian serous cystadenocarcinoma(106;0.0176)			GATCCACTCTCTTTCAGGAAA	0.398																																						uc009xgp.2		NaN																	0				ovary(2)	2						c.(268-270)CTT>GTT		kynurenine 3-monooxygenase							186.0	182.0	183.0					1																	241714300		2203	4300	6503	SO:0001583	missense	8564				pyridine nucleotide biosynthetic process|response to salt stress	cytosol|integral to membrane|mitochondrial outer membrane	electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity|NAD(P)H oxidase activity	g.chr1:241714300C>G	AF056032	CCDS1618.1	1q42-q44	2010-11-23			ENSG00000117009	ENSG00000117009	1.14.13.9		6381	protein-coding gene	gene with protein product		603538				9237672	Standard	NM_003679		Approved		uc009xgp.3	O15229	OTTHUMG00000039635	ENST00000366559.4:c.268C>G	1.37:g.241714300C>G	ENSP00000355517:p.Leu90Val					KMO_uc001hyy.2_Missense_Mutation_p.L90V|KMO_uc009xgo.1_Missense_Mutation_p.L90V	p.L90V	NM_003679	NP_003670	O15229	KMO_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0176)		4	333	+	Ovarian(103;0.103)|all_lung(81;0.23)		90						Missense_Mutation	SNP	ENST00000366559.4	37	c.268C>G	CCDS1618.1	.	.	.	.	.	.	.	.	.	.	C	8.662	0.900876	0.17686	.	.	ENSG00000117009	ENST00000366559;ENST00000366558;ENST00000366557	T;T;T	0.50813	0.73;0.73;0.73	6.17	5.27	0.74061	Monooxygenase, FAD-binding (1);	0.396001	0.27976	N	0.017085	T	0.33411	0.0862	N	0.20574	0.59	0.31887	N	0.617674	B;B;B	0.23591	0.088;0.088;0.061	B;B;B	0.28305	0.088;0.054;0.015	T	0.38972	-0.9636	10	0.25106	T	0.35	.	11.5355	0.50634	0.0:0.9186:0.0:0.0814	.	90;90;90	O15229;A8K693;O15229-2	KMO_HUMAN;.;.	V	90	ENSP00000355517:L90V;ENSP00000355516:L90V;ENSP00000355515:L90V	ENSP00000355515:L90V	L	+	1	0	KMO	239780923	0.996000	0.38824	1.000000	0.80357	0.808000	0.45660	1.825000	0.39081	1.627000	0.50400	0.655000	0.94253	CTT		0.398	KMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095612.1		NM_003679		51	101	0	0	0	1	0	51	101		
ITIH2	3698	broad.mit.edu	37	10	7786827	7786827	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr10:7786827C>G	ENST00000358415.4	+	19	2648	c.2482C>G	c.(2482-2484)Ctt>Gtt	p.L828V	ITIH2_ENST00000379587.4_Missense_Mutation_p.L817V	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	828					hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TTCTGTTTTACTTCATCGTGT	0.423																																						uc001ijs.2		NaN																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(2482-2484)CTT>GTT		inter-alpha globulin inhibitor H2 polypeptide							154.0	143.0	147.0					10																	7786827		2203	4300	6503	SO:0001583	missense	3698				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7786827C>G	X07173	CCDS31141.1	10p14	2011-10-26	2011-10-26		ENSG00000151655	ENSG00000151655			6167	protein-coding gene	gene with protein product		146640	"""inter-alpha (globulin) inhibitor, H2 polypeptide"""			1385302, 10100603	Standard	NM_002216		Approved	H2P	uc001ijs.3	P19823	OTTHUMG00000017633	ENST00000358415.4:c.2482C>G	10.37:g.7786827C>G	ENSP00000351190:p.Leu828Val						p.L828V	NM_002216	NP_002207	P19823	ITIH2_HUMAN			19	2644	+			828					Q14659|Q15484|Q5T986	Missense_Mutation	SNP	ENST00000358415.4	37	c.2482C>G	CCDS31141.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.444097	0.83993	.	.	ENSG00000151655	ENST00000358415;ENST00000379587	T;T	0.13657	2.57;2.57	5.79	5.79	0.91817	Inter-alpha-trypsin inhibitor heavy chain, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.47192	0.1432	M	0.90309	3.105	0.80722	D	1	D	0.69078	0.997	D	0.68483	0.958	T	0.51988	-0.8635	10	0.52906	T	0.07	-12.6419	20.0168	0.97479	0.0:1.0:0.0:0.0	.	828	P19823	ITIH2_HUMAN	V	828;817	ENSP00000351190:L828V;ENSP00000368906:L817V	ENSP00000351190:L828V	L	+	1	0	ITIH2	7826833	1.000000	0.71417	0.981000	0.43875	0.858000	0.48976	4.617000	0.61204	2.737000	0.93849	0.591000	0.81541	CTT		0.423	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046678.2		NM_002216		12	86	0	0	0	1	0	12	86		
CELF2	10659	broad.mit.edu	37	10	11047353	11047353	+	Start_Codon_SNP	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr10:11047353G>T	ENST00000379261.4	+	1	95	c.3G>T	c.(1-3)atG>atT	p.M1I	CELF2_ENST00000416382.2_Start_Codon_SNP_p.M1I	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2	1	Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.				mRNA processing (GO:0006397)|regulation of heart contraction (GO:0008016)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						ATAGAAGCATGCGCTGTCCCA	0.438																																						uc001iki.3		NaN																	0					0						c.(1-3)ATG>ATT		CUG triplet repeat, RNA binding protein 2							328.0	332.0	330.0					10																	11047353		2032	4186	6218	SO:0001582	initiator_codon_variant	10659				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding	g.chr10:11047353G>T	U69546	CCDS41488.1, CCDS44354.1, CCDS44355.1, CCDS44356.1	10p13	2013-02-12	2010-02-19	2010-02-19	ENSG00000048740	ENSG00000048740		"""RNA binding motif (RRM) containing"""	2550	protein-coding gene	gene with protein product		602538	"""CUG triplet repeat, RNA-binding protein 2"", ""CUG triplet repeat, RNA binding protein 2"""	CUGBP2		7869393, 9887331	Standard	NM_006561		Approved	Etr-3, NAPOR-2, BRUNOL3	uc001ikl.4	O95319	OTTHUMG00000017668	ENST00000379261.4:c.3G>T	10.37:g.11047353G>T	ENSP00000368563:p.Met1Ile					CELF2_uc010qbi.1_5'UTR|CELF2_uc010qbj.1_Missense_Mutation_p.M1I	p.M1I	NM_001025077	NP_001020248	O95319	CELF2_HUMAN			1	95	+			1			Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.		B7ZAN9|Q7KYU4|Q8N499|Q92950|Q96NW9|Q96RQ5|Q96RQ6|Q9UL67	Missense_Mutation	SNP	ENST00000379261.4	37	c.3G>T	CCDS44354.1	.	.	.	.	.	.	.	.	.	.	G	11.84	1.758602	0.31137	.	.	ENSG00000048740	ENST00000379261;ENST00000416382	T;T	0.79033	-1.23;-1.23	5.26	5.26	0.73747	.	.	.	.	.	T	0.77412	0.4126	.	.	.	0.80722	D	1	B;B	0.16603	0.018;0.018	B;B	0.28553	0.091;0.091	T	0.74604	-0.3610	8	0.87932	D	0	.	19.2148	0.93772	0.0:0.0:1.0:0.0	.	1;1	B4DS31;O95319	.;CELF2_HUMAN	I	1	ENSP00000368563:M1I;ENSP00000406451:M1I	ENSP00000368563:M1I	M	+	3	0	CELF2	11087359	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.502000	0.81614	2.600000	0.87896	0.655000	0.94253	ATG		0.438	CELF2-201	KNOWN	basic|CCDS	protein_coding	protein_coding				Missense_Mutation	38	216	1	0	1.15505e-17	1	1.27961e-17	38	216		
FRMD4A	55691	broad.mit.edu	37	10	13698952	13698952	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr10:13698952G>C	ENST00000357447.2	-	22	3005	c.2637C>G	c.(2635-2637)ttC>ttG	p.F879L	FRMD4A_ENST00000378503.1_Missense_Mutation_p.F879L|FRMD4A_ENST00000358621.4_Missense_Mutation_p.F864L	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	879					establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						AGCTCTCCTTGAACAGGCCGC	0.716																																						uc001ims.2		NaN																	0				ovary(1)|skin(1)|pancreas(1)	3						c.(2635-2637)TTC>TTG		FERM domain containing 4A							11.0	12.0	12.0					10																	13698952		2185	4288	6473	SO:0001583	missense	55691					cytoplasm|cytoskeleton	binding	g.chr10:13698952G>C	AB037715	CCDS7101.1	10p14	2004-07-15	2004-07-15	2004-07-15	ENSG00000151474	ENSG00000151474			25491	protein-coding gene	gene with protein product			"""FERM domain containing 4"""	FRMD4		10718198	Standard	NM_018027		Approved	FLJ10210, KIAA1294, bA295P9.4	uc001ims.3	Q9P2Q2	OTTHUMG00000017708	ENST00000357447.2:c.2637C>G	10.37:g.13698952G>C	ENSP00000350032:p.Phe879Leu					FRMD4A_uc009xjf.1_Missense_Mutation_p.F879L	p.F879L	NM_018027	NP_060497	Q9P2Q2	FRM4A_HUMAN			22	2989	-			879					A7E2Y3|Q5T377	Missense_Mutation	SNP	ENST00000357447.2	37	c.2637C>G	CCDS7101.1	.	.	.	.	.	.	.	.	.	.	G	6.036	0.374994	0.11409	.	.	ENSG00000151474	ENST00000358621;ENST00000357447;ENST00000378503	D;D;D	0.82711	-1.64;-1.64;-1.64	4.92	4.01	0.46588	.	0.052313	0.85682	D	0.000000	T	0.62816	0.2459	N	0.08118	0	0.39233	D	0.963717	B	0.17038	0.02	B	0.15484	0.013	T	0.55592	-0.8117	10	0.08381	T	0.77	-10.7059	10.1566	0.42827	0.1773:0.0:0.8227:0.0	.	879	Q9P2Q2	FRM4A_HUMAN	L	864;879;879	ENSP00000351438:F864L;ENSP00000350032:F879L;ENSP00000367764:F879L	ENSP00000350032:F879L	F	-	3	2	FRMD4A	13738958	1.000000	0.71417	0.994000	0.49952	0.576000	0.36127	3.431000	0.52814	1.039000	0.40074	0.174000	0.16983	TTC		0.716	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046889.1		NM_018027		8	14	0	0	0	1	0	8	14		
HSPA14	51182	broad.mit.edu	37	10	14909867	14909867	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr10:14909867G>C	ENST00000378372.3	+	12	1578	c.1339G>C	c.(1339-1341)Gat>Cat	p.D447H		NM_016299.2	NP_057383.2	Q0VDF9	HSP7E_HUMAN	heat shock 70kDa protein 14	447					'de novo' cotranslational protein folding (GO:0051083)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)			breast(4)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	17						CTATGAGTCTGATGGGAAGAA	0.433																																						uc001inf.2		NaN																	0				ovary(2)|breast(2)|lung(1)	5						c.(1339-1341)GAT>CAT		heat shock 70kDa protein 14 isoform 1							106.0	95.0	99.0					10																	14909867		2203	4300	6503	SO:0001583	missense	51182				'de novo' cotranslational protein folding	cytosol	ATP binding|protein binding	g.chr10:14909867G>C	AF112210	CCDS7103.1, CCDS60487.1	10p13	2011-09-02			ENSG00000187522	ENSG00000187522		"""Heat shock proteins / HSP70"""	29526	protein-coding gene	gene with protein product		610369				12477932	Standard	NM_016299		Approved	HSP70-4, HSP70L1	uc001ind.4	Q0VDF9	OTTHUMG00000017712	ENST00000378372.3:c.1339G>C	10.37:g.14909867G>C	ENSP00000367623:p.Asp447His						p.D447H	NM_016299	NP_057383	Q0VDF9	HSP7E_HUMAN			12	1480	+			447					A8K8F8|B0YIY9|Q9P0X2|Q9UI07	Missense_Mutation	SNP	ENST00000378372.3	37	c.1339G>C	CCDS7103.1	.	.	.	.	.	.	.	.	.	.	G	13.75	2.329222	0.41197	.	.	ENSG00000187522	ENST00000378372	T	0.01092	5.35	5.92	3.83	0.44106	.	0.788595	0.11596	N	0.548184	T	0.01387	0.0045	L	0.38175	1.15	0.24873	N	0.992279	B	0.27971	0.196	B	0.32022	0.139	T	0.44907	-0.9297	10	0.87932	D	0	-10.1806	5.1767	0.15139	0.0841:0.1209:0.6124:0.1826	.	447	Q0VDF9	HSP7E_HUMAN	H	447	ENSP00000367623:D447H	ENSP00000367623:D447H	D	+	1	0	HSPA14	14949873	0.002000	0.14202	1.000000	0.80357	0.749000	0.42624	0.253000	0.18296	2.801000	0.96364	0.650000	0.86243	GAT		0.433	HSPA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046910.1		NM_016299		22	103	0	0	0	1	0	22	103		
DCLRE1C	64421	broad.mit.edu	37	10	14995952	14995952	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr10:14995952C>G	ENST00000378278.2	-	1	95	c.58G>C	c.(58-60)Gat>Cat	p.D20H	DCLRE1C_ENST00000378255.1_5'UTR|DCLRE1C_ENST00000396817.2_5'UTR|DCLRE1C_ENST00000378258.1_5'UTR|DCLRE1C_ENST00000378254.1_5'UTR|DCLRE1C_ENST00000453695.2_5'UTR|DCLRE1C_ENST00000378246.2_5'UTR|DCLRE1C_ENST00000378249.1_5'UTR|DCLRE1C_ENST00000357717.2_5'UTR|DCLRE1C_ENST00000378289.4_Missense_Mutation_p.D20H			Q96SD1	DCR1C_HUMAN	DNA cross-link repair 1C	20					B cell differentiation (GO:0030183)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|response to ionizing radiation (GO:0010212)|telomere maintenance (GO:0000723)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						TTCTCCCTATCGAAGCGGTCT	0.647								Non-homologous end-joining																														uc001inn.2		NaN																	0				ovary(1)	1						c.(58-60)GAT>CAT	Involved_in_tolerance_or_repair_of_DNA_crosslinks|NHEJ	artemis protein isoform a							66.0	70.0	69.0					10																	14995952		2203	4300	6503	SO:0001583	missense	64421				DNA recombination	nucleus	5'-3' exonuclease activity|single-stranded DNA specific endodeoxyribonuclease activity	g.chr10:14995952C>G	BC022254	CCDS7105.1, CCDS31149.1, CCDS31150.1	10p13	2014-09-17	2010-06-24		ENSG00000152457	ENSG00000152457			17642	protein-coding gene	gene with protein product	"""PSO2 homolog (S. cerevisiae)"""	605988	"""severe combined immunodeficiency, type a (Athabascan)"", ""DNA cross-link repair 1C (PSO2 homolog, S. cerevisiae)"""	SCIDA		11336668, 9443881	Standard	XM_005252558		Approved	ARTEMIS, FLJ11360, SNM1C, A-SCID	uc001inn.3	Q96SD1	OTTHUMG00000017716	ENST00000378278.2:c.58G>C	10.37:g.14995952C>G	ENSP00000367527:p.Asp20His					DCLRE1C_uc010qbx.1_Missense_Mutation_p.D20H|DCLRE1C_uc001inl.2_5'UTR|DCLRE1C_uc009xji.2_5'UTR|DCLRE1C_uc001inm.2_5'UTR|DCLRE1C_uc001ino.2_5'UTR|DCLRE1C_uc009xjh.2_RNA|DCLRE1C_uc001inp.2_5'UTR|DCLRE1C_uc001inq.2_5'UTR|DCLRE1C_uc001inr.2_5'UTR	p.D20H	NM_001033855	NP_001029027	Q96SD1	DCR1C_HUMAN			1	143	-			20					D3DRT6|Q1HCL2|Q5JSR4|Q5JSR5|Q5JSR7|Q5JSR8|Q5JSR9|Q5JSS0|Q5JSS7|Q6PK14|Q8N101|Q8N132|Q8TBW9|Q9BVW9|Q9HAM4	Missense_Mutation	SNP	ENST00000378278.2	37	c.58G>C	CCDS31149.1	.	.	.	.	.	.	.	.	.	.	C	35	5.500404	0.96355	.	.	ENSG00000152457	ENST00000378289;ENST00000378278	T;T	0.74947	-0.89;-0.89	5.74	5.74	0.90152	Beta-lactamase-like (1);	0.000000	0.85682	D	0.000000	D	0.84790	0.5550	L	0.61036	1.89	0.80722	D	1	D;D	0.63880	0.993;0.988	D;D	0.65773	0.938;0.924	D	0.84795	0.0781	10	0.66056	D	0.02	.	19.8775	0.96884	0.0:1.0:0.0:0.0	.	20;20	Q96SD1-4;Q96SD1	.;DCR1C_HUMAN	H	20	ENSP00000367538:D20H;ENSP00000367527:D20H	ENSP00000367527:D20H	D	-	1	0	DCLRE1C	15035958	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	6.804000	0.75186	2.873000	0.98535	0.561000	0.74099	GAT		0.647	DCLRE1C-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046934.1		NM_022487		22	95	0	0	0	1	0	22	95		
NMT2	9397	broad.mit.edu	37	10	15154865	15154865	+	Nonsense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr10:15154865G>C	ENST00000378165.4	-	10	1348	c.1268C>G	c.(1267-1269)tCa>tGa	p.S423*	NMT2_ENST00000540259.1_Nonsense_Mutation_p.S235*|NMT2_ENST00000378150.1_Nonsense_Mutation_p.S410*|RPP38_ENST00000451677.1_Intron|NMT2_ENST00000535341.1_Nonsense_Mutation_p.S410*	NM_004808.2	NP_004799.1	O60551	NMT2_HUMAN	N-myristoyltransferase 2	423					intracellular transport of virus (GO:0075733)|N-terminal protein myristoylation (GO:0006499)|phototransduction, visible light (GO:0007603)|protein lipoylation (GO:0009249)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|glycylpeptide N-tetradecanoyltransferase activity (GO:0004379)			breast(3)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(3)	21						GTTGTAGAATGAGTAGGCGGC	0.552																																					Melanoma(117;1345 1645 4130 12688 30625)	uc001inz.1		NaN																	0				ovary(1)	1						c.(1267-1269)TCA>TGA		N-myristoyltransferase 2							202.0	197.0	199.0					10																	15154865		2203	4300	6503	SO:0001587	stop_gained	9397				N-terminal protein myristoylation|protein lipoylation	Golgi apparatus|plasma membrane	glycylpeptide N-tetradecanoyltransferase activity	g.chr10:15154865G>C	AF043325	CCDS7109.1	10p13	2006-07-11			ENSG00000152465	ENSG00000152465			7858	protein-coding gene	gene with protein product		603801				9506952	Standard	NM_004808		Approved		uc001inz.1	O60551	OTTHUMG00000017723	ENST00000378165.4:c.1268C>G	10.37:g.15154865G>C	ENSP00000367407:p.Ser423*					NMT2_uc001ioa.1_Nonsense_Mutation_p.S410*|NMT2_uc009xjo.1_Nonsense_Mutation_p.S423*|NMT2_uc010qbz.1_Nonsense_Mutation_p.S235*	p.S423*	NM_004808	NP_004799	O60551	NMT2_HUMAN			10	1352	-			423					B0YJ49|Q53Y38|Q5VUC8|Q9BRB4	Nonsense_Mutation	SNP	ENST00000378165.4	37	c.1268C>G	CCDS7109.1	.	.	.	.	.	.	.	.	.	.	G	39	7.301793	0.98196	.	.	ENSG00000152465	ENST00000378165;ENST00000378150;ENST00000378143;ENST00000540259;ENST00000535341	.	.	.	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-23.1328	20.1533	0.98095	0.0:0.0:1.0:0.0	.	.	.	.	X	423;410;454;235;410	.	ENSP00000367385:S454X	S	-	2	0	NMT2	15194871	1.000000	0.71417	1.000000	0.80357	0.824000	0.46624	9.731000	0.98807	2.758000	0.94735	0.655000	0.94253	TCA		0.552	NMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046958.2		NM_004808		25	137	0	0	0	1	0	25	137		
KIAA1217	56243	broad.mit.edu	37	10	24669900	24669900	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr10:24669900G>C	ENST00000376454.3	+	3	487	c.457G>C	c.(457-459)Gag>Cag	p.E153Q	KIAA1217_ENST00000430453.2_Missense_Mutation_p.E74Q|KIAA1217_ENST00000376452.3_Missense_Mutation_p.E153Q|KIAA1217_ENST00000458595.1_Missense_Mutation_p.E153Q|KIAA1217_ENST00000376462.1_Missense_Mutation_p.E73Q	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	153					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						AGCCATGTCTGAGGGGGATGC	0.552																																						uc001iru.3		NaN																	0				ovary(5)|skin(2)	7						c.(457-459)GAG>CAG		sickle tail isoform 1							67.0	68.0	68.0					10																	24669900		2203	4300	6503	SO:0001583	missense	56243				embryonic skeletal system development	cytoplasm		g.chr10:24669900G>C	BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"""sickle tail"""					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.457G>C	10.37:g.24669900G>C	ENSP00000365637:p.Glu153Gln					KIAA1217_uc001irs.2_Missense_Mutation_p.E73Q|KIAA1217_uc001irt.3_Missense_Mutation_p.E153Q|KIAA1217_uc010qcy.1_Missense_Mutation_p.E153Q|KIAA1217_uc010qcz.1_Missense_Mutation_p.E153Q|KIAA1217_uc001irv.1_Missense_Mutation_p.E3Q|KIAA1217_uc010qda.1_RNA	p.E153Q	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN			3	860	+			153					A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Missense_Mutation	SNP	ENST00000376454.3	37	c.457G>C	CCDS31165.1	.	.	.	.	.	.	.	.	.	.	G	31	5.103675	0.94245	.	.	ENSG00000120549	ENST00000376462;ENST00000376456;ENST00000458595;ENST00000376454;ENST00000376452;ENST00000438429;ENST00000430453	T;T;T;T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15	5.54	5.54	0.83059	.	0.048605	0.85682	D	0.000000	T	0.80949	0.4722	M	0.79123	2.44	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;0.998;1.0	D;D;D;D	0.87578	0.997;0.998;0.994;0.998	T	0.82725	-0.0315	10	0.87932	D	0	.	19.4705	0.94961	0.0:0.0:1.0:0.0	.	153;153;153;153	Q5T5P2-7;A6NLF3;Q5T5P2;Q5T5P2-2	.;.;SKT_HUMAN;.	Q	73;153;153;153;153;3;74	ENSP00000365645:E73Q;ENSP00000365639:E153Q;ENSP00000392625:E153Q;ENSP00000365637:E153Q;ENSP00000365635:E153Q;ENSP00000404798:E3Q;ENSP00000389680:E74Q	ENSP00000365635:E153Q	E	+	1	0	KIAA1217	24709906	1.000000	0.71417	0.992000	0.48379	0.979000	0.70002	9.452000	0.97615	2.616000	0.88540	0.591000	0.81541	GAG		0.552	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2		NM_019590		31	29	0	0	0	1	0	31	29		
MRPS16	51021	broad.mit.edu	37	10	75011600	75011600	+	Silent	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr10:75011600G>C	ENST00000372945.3	-	2	405	c.195C>G	c.(193-195)ctC>ctG	p.L65L	RP11-152N13.5_ENST00000394864.2_RNA|DNAJC9_ENST00000372950.4_5'Flank|MRPS16_ENST00000416782.2_Silent_p.L65L|MRPS16_ENST00000479005.1_5'UTR|MRPS16_ENST00000372940.3_Silent_p.L65L|RP11-152N13.5_ENST00000457147.1_RNA|RP11-152N13.5_ENST00000457758.1_RNA|TTC18_ENST00000493787.1_5'Flank|DNAJC9-AS1_ENST00000513954.1_RNA|DNAJC9-AS1_ENST00000440197.2_RNA	NM_016065.3	NP_057149.1	Q9Y3D3	RT16_HUMAN	mitochondrial ribosomal protein S16	65					translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)	structural constituent of ribosome (GO:0003735)			large_intestine(2)|lung(2)	4	Prostate(51;0.0119)					TGAGGGCAACGAGTTTTTCTC	0.537																																						uc001jts.1		NaN																	0					0						c.(193-195)CTC>CTG		mitochondrial ribosomal protein S16 precursor							120.0	114.0	116.0					10																	75011600		2203	4300	6503	SO:0001819	synonymous_variant	51021				translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome	g.chr10:75011600G>C	AB051351	CCDS7323.1	10q22.1	2012-09-13			ENSG00000182180	ENSG00000182180		"""Mitochondrial ribosomal proteins / small subunits"""	14048	protein-coding gene	gene with protein product		609204				10810093	Standard	NM_016065		Approved	CGI-132	uc001jts.1	Q9Y3D3	OTTHUMG00000018454	ENST00000372945.3:c.195C>G	10.37:g.75011600G>C						DNAJC9_uc010qkg.1_5'Flank|MRPS16_uc010qkh.1_RNA|MRPS16_uc001jtt.1_RNA|uc001jtu.1_5'Flank	p.L65L	NM_016065	NP_057149	Q9Y3D3	RT16_HUMAN			2	406	-	Prostate(51;0.0119)		65					B4E032|Q96Q60	Silent	SNP	ENST00000372945.3	37	c.195C>G	CCDS7323.1																																																																																				0.537	MRPS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048616.1				57	26	0	0	0	1	0	57	26		
PTEN	5728	broad.mit.edu	37	10	89725134	89725134	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr10:89725134G>A	ENST00000371953.3	+	9	2474	c.1117G>A	c.(1117-1119)Gaa>Aaa	p.E373K		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	373					activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TAGTGACAATGAACCTGATCA	0.388		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.2		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	D|Mis|N|F|S	phosphatase and tensin homolog gene			"""L, E, M, O"""		harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial		47	Whole gene deletion(37)|Deletion - Frameshift(9)|Deletion - In frame(1)	p.R55fs*1(4)|p.Y27fs*1(2)|p.N212fs*1(2)|p.G165_*404del(1)	prostate(16)|central_nervous_system(10)|skin(5)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|ovary(3)|urinary_tract(2)|soft_tissue(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334						c.(1117-1119)GAA>AAA		phosphatase and tensin homolog							32.0	30.0	31.0					10																	89725134		2201	4277	6478	SO:0001583	missense	5728	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89725134G>A	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.1117G>A	10.37:g.89725134G>A	ENSP00000361021:p.Glu373Lys	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)					p.E373K	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	10	2148	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	373					B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.1117G>A	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.162819	0.78226	.	.	ENSG00000171862	ENST00000371953	D	0.94613	-3.47	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	D	0.93419	0.7901	N	0.08118	0	0.80722	D	1	D	0.69078	0.997	D	0.73380	0.98	D	0.92853	0.6299	9	.	.	.	-11.2412	19.2151	0.93774	0.0:0.0:1.0:0.0	.	373	P60484	PTEN_HUMAN	K	373	ENSP00000361021:E373K	.	E	+	1	0	PTEN	89715114	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.429000	0.97481	2.609000	0.88269	0.591000	0.81541	GAA		0.388	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1		NM_000314		10	17	0	0	0	1	0	10	17		
BTAF1	9044	broad.mit.edu	37	10	93699793	93699793	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr10:93699793G>C	ENST00000265990.6	+	3	531	c.223G>C	c.(223-225)Gag>Cag	p.E75Q		NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	75					negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				AAATGTACCTGAGTGGAATCC	0.353																																						uc001khr.2		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(223-225)GAG>CAG		BTAF1 RNA polymerase II, B-TFIID transcription							64.0	66.0	65.0					10																	93699793		2203	4300	6503	SO:0001583	missense	9044				negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity	g.chr10:93699793G>C	AJ001017	CCDS7419.1	10q22-q23	2013-05-01	2013-05-01		ENSG00000095564	ENSG00000095564			17307	protein-coding gene	gene with protein product	"""Mot1 homolog (S. cerevisiae)"""	605191	"""BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170 kD (Mot1 homolog, S. cerevisiae)"""			9342322, 9488487	Standard	NM_003972		Approved	TAFII170, TAF172, MOT1, TAF-172, TAF(II)170	uc001khr.3	O14981	OTTHUMG00000018752	ENST00000265990.6:c.223G>C	10.37:g.93699793G>C	ENSP00000265990:p.Glu75Gln					BTAF1_uc009xua.1_RNA	p.E75Q	NM_003972	NP_003963	O14981	BTAF1_HUMAN			3	321	+		Colorectal(252;0.0846)	75					B4E0W6|O43578	Missense_Mutation	SNP	ENST00000265990.6	37	c.223G>C	CCDS7419.1	.	.	.	.	.	.	.	.	.	.	G	12.42	1.932587	0.34096	.	.	ENSG00000095564	ENST00000265990	D	0.89681	-2.55	5.42	5.42	0.78866	Armadillo-like helical (1);Armadillo-type fold (1);	0.057616	0.64402	D	0.000002	T	0.78233	0.4251	N	0.05050	-0.12	0.80722	D	1	B	0.10296	0.003	B	0.08055	0.003	T	0.72836	-0.4172	10	0.12766	T	0.61	-1.8506	19.2123	0.93760	0.0:0.0:1.0:0.0	.	75	O14981	BTAF1_HUMAN	Q	75	ENSP00000265990:E75Q	ENSP00000265990:E75Q	E	+	1	0	BTAF1	93689773	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.682000	0.98655	2.552000	0.86080	0.655000	0.94253	GAG		0.353	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049380.4		NM_003972		8	14	0	0	0	1	0	8	14		
PDE6C	5146	broad.mit.edu	37	10	95400704	95400704	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr10:95400704G>T	ENST00000371447.3	+	14	1903	c.1765G>T	c.(1765-1767)Gat>Tat	p.D589Y		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	589					phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|visual perception (GO:0007601)	plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)			Caffeine(DB00201)	GTACTACACAGATCTCGAAGC	0.363																																						uc001kiu.3		NaN																	0				ovary(2)|kidney(1)|skin(1)	4						c.(1765-1767)GAT>TAT		phosphodiesterase 6C							127.0	112.0	117.0					10																	95400704		2203	4300	6503	SO:0001583	missense	5146				visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding	g.chr10:95400704G>T	U31973	CCDS7429.1	10q24	2013-01-23			ENSG00000095464	ENSG00000095464	3.1.4.17	"""Phosphodiesterases"""	8787	protein-coding gene	gene with protein product		600827					Standard	NM_006204		Approved	PDEA2, ACHM5, COD4	uc001kiu.4	P51160	OTTHUMG00000018775	ENST00000371447.3:c.1765G>T	10.37:g.95400704G>T	ENSP00000360502:p.Asp589Tyr						p.D589Y	NM_006204	NP_006195	P51160	PDE6C_HUMAN			14	1903	+		Colorectal(252;0.123)	589					A6NCR6|Q5VY29	Missense_Mutation	SNP	ENST00000371447.3	37	c.1765G>T	CCDS7429.1	.	.	.	.	.	.	.	.	.	.	G	16.72	3.200689	0.58126	.	.	ENSG00000095464	ENST00000371447	D	0.84370	-1.84	5.2	5.2	0.72013	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	D	0.93539	0.7938	M	0.87971	2.92	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94241	0.7485	10	0.87932	D	0	.	18.9274	0.92550	0.0:0.0:1.0:0.0	.	589	P51160	PDE6C_HUMAN	Y	589	ENSP00000360502:D589Y	ENSP00000360502:D589Y	D	+	1	0	PDE6C	95390694	1.000000	0.71417	0.099000	0.21106	0.261000	0.26267	9.134000	0.94467	2.709000	0.92574	0.563000	0.77884	GAT		0.363	PDE6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049437.1		NM_006204		15	29	1	0	0.00244969	1	0.00248141	15	29		
HELLS	3070	broad.mit.edu	37	10	96317928	96317928	+	Missense_Mutation	SNP	A	A	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr10:96317928A>T	ENST00000348459.5	+	4	414	c.309A>T	c.(307-309)aaA>aaT	p.K103N	HELLS_ENST00000394044.1_Missense_Mutation_p.K103N|HELLS_ENST00000394045.1_Missense_Mutation_p.K103N|HELLS_ENST00000462057.1_3'UTR|HELLS_ENST00000394036.1_Missense_Mutation_p.K103N|HELLS_ENST00000371332.4_Missense_Mutation_p.K103N|HELLS_ENST00000239026.6_3'UTR	NM_018063.3	NP_060533.2			helicase, lymphoid-specific											endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		Colorectal(252;0.0429)		all cancers(201;2.13e-05)		TGGAGAGAAAAAAGGAGTCTT	0.269																																						uc001kjt.2		NaN																	0				ovary(1)|kidney(1)	2						c.(307-309)AAA>AAT		helicase, lymphoid-specific							53.0	66.0	62.0					10																	96317928		2196	4291	6487	SO:0001583	missense	3070				cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent	centromeric heterochromatin|nucleus	ATP binding|DNA binding|helicase activity	g.chr10:96317928A>T	AF155827	CCDS7434.1, CCDS73162.1, CCDS73163.1, CCDS73164.1, CCDS73165.1	10q24.2	2008-08-01			ENSG00000119969	ENSG00000119969			4861	protein-coding gene	gene with protein product	"""SWI/SNF2-related, matrix-associated, actin-dependent regulator of chromatin, subfamily A, member 6"", ""proliferation-associated SNF2-like protein"""	603946				9878251, 10910076	Standard	NM_018063		Approved	PASG, SMARCA6, LSH, Nbla10143	uc001kjt.3	Q9NRZ9	OTTHUMG00000018793	ENST00000348459.5:c.309A>T	10.37:g.96317928A>T	ENSP00000239027:p.Lys103Asn					HELLS_uc001kjs.2_Missense_Mutation_p.K87N|HELLS_uc009xul.2_Missense_Mutation_p.K103N|HELLS_uc009xum.2_Missense_Mutation_p.K103N|HELLS_uc009xun.2_5'UTR|HELLS_uc009xuo.2_Missense_Mutation_p.K103N|HELLS_uc001kju.2_5'UTR|HELLS_uc009xup.2_RNA|HELLS_uc009xuq.2_5'UTR|HELLS_uc009xur.2_RNA	p.K103N	NM_018063	NP_060533	Q9NRZ9	HELLS_HUMAN		all cancers(201;2.13e-05)	4	414	+		Colorectal(252;0.0429)	103			Potential.			Missense_Mutation	SNP	ENST00000348459.5	37	c.309A>T	CCDS7434.1	.	.	.	.	.	.	.	.	.	.	A	18.00	3.525531	0.64860	.	.	ENSG00000119969	ENST00000419900;ENST00000348459;ENST00000394045;ENST00000394044;ENST00000394036;ENST00000371332	T;T;D;T	0.96427	0.54;0.54;-4.01;0.54	4.69	2.34	0.29019	.	0.056736	0.64402	D	0.000002	D	0.95404	0.8508	L	0.32530	0.975	0.80722	D	1	D;D;D;D	0.89917	0.997;0.999;1.0;0.997	D;D;D;D	0.78314	0.917;0.991;0.97;0.917	D	0.93188	0.6580	10	0.54805	T	0.06	-0.0037	5.6265	0.17485	0.7088:0.0:0.2912:0.0	.	103;103;103;103	Q6I7N8;Q9NRZ9-6;Q9NRZ9-5;Q9NRZ9	.;.;.;HELLS_HUMAN	N	87;103;103;103;103;103	ENSP00000239027:K103N;ENSP00000377609:K103N;ENSP00000377608:K103N;ENSP00000360383:K103N	ENSP00000239027:K103N	K	+	3	2	HELLS	96307918	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.579000	0.23788	0.744000	0.32741	0.533000	0.62120	AAA		0.269	HELLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049475.1		NM_018063		20	23	0	0	0	1	0	20	23		
PIK3AP1	118788	broad.mit.edu	37	10	98383279	98383279	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr10:98383279C>A	ENST00000339364.5	-	11	1804	c.1685G>T	c.(1684-1686)aGt>aTt	p.S562I	PIK3AP1_ENST00000371109.3_Missense_Mutation_p.S161I|PIK3AP1_ENST00000371110.2_Missense_Mutation_p.S384I	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	562					negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of inflammatory response (GO:0050727)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)	p.S562I(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		CCGCTCTTGACTTTTTTCTGC	0.343																																						uc001kmq.2		NaN																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(3)|ovary(1)|skin(1)	5						c.(1684-1686)AGT>ATT		phosphoinositide-3-kinase adaptor protein 1							155.0	165.0	162.0					10																	98383279		2203	4300	6503	SO:0001583	missense	118788					cytoplasm|plasma membrane		g.chr10:98383279C>A	AK092883	CCDS31259.1	10q24.2	2008-10-23			ENSG00000155629	ENSG00000155629			30034	protein-coding gene	gene with protein product		607942				1251844, 11163197	Standard	NM_152309		Approved	BCAP, FLJ35564	uc001kmq.3	Q6ZUJ8	OTTHUMG00000018838	ENST00000339364.5:c.1685G>T	10.37:g.98383279C>A	ENSP00000339826:p.Ser562Ile					PIK3AP1_uc001kmo.2_Missense_Mutation_p.S161I|PIK3AP1_uc001kmp.2_Missense_Mutation_p.S384I	p.S562I	NM_152309	NP_689522	Q6ZUJ8	BCAP_HUMAN		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)	11	1813	-		Colorectal(252;0.0442)	562					Q5TB56|Q5VXJ9|Q8N6J6|Q8NAC8	Missense_Mutation	SNP	ENST00000339364.5	37	c.1685G>T	CCDS31259.1	.	.	.	.	.	.	.	.	.	.	C	16.55	3.155486	0.57259	.	.	ENSG00000155629	ENST00000339364;ENST00000371110;ENST00000371109	T;T;T	0.24723	2.88;2.2;1.84	5.59	3.71	0.42584	.	0.778923	0.12700	N	0.446420	T	0.25457	0.0619	L	0.40543	1.245	0.26487	N	0.975017	P;D	0.53151	0.919;0.958	P;P	0.47981	0.483;0.563	T	0.08994	-1.0695	10	0.51188	T	0.08	-0.944	6.3432	0.21335	0.0:0.5281:0.3128:0.1591	.	562;161	Q6ZUJ8;Q6ZUJ8-3	BCAP_HUMAN;.	I	562;384;161	ENSP00000339826:S562I;ENSP00000360151:S384I;ENSP00000360150:S161I	ENSP00000339826:S562I	S	-	2	0	PIK3AP1	98373269	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	0.819000	0.27308	0.696000	0.31696	0.491000	0.48974	AGT		0.343	PIK3AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049619.2		NM_152309		58	81	1	0	1.00798e-23	1	1.13023e-23	58	81		
FAM178A	55719	broad.mit.edu	37	10	102672946	102672946	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr10:102672946C>G	ENST00000238961.4	+	1	621	c.79C>G	c.(79-81)Ctg>Gtg	p.L27V	FAM178A_ENST00000370269.3_Missense_Mutation_p.L27V|FAM178A_ENST00000609386.1_Missense_Mutation_p.L27V|FAM178A_ENST00000370271.3_Missense_Mutation_p.L27V|RP11-179B2.2_ENST00000608554.1_RNA	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	27						chromatin (GO:0000785)|extracellular space (GO:0005615)|nucleus (GO:0005634)											GCGCTGCCATCTGAGACCCGG	0.697																																						uc001krt.3		NaN																	0					0						c.(79-81)CTG>GTG		hypothetical protein LOC55719 isoform 1							21.0	23.0	23.0					10																	102672946		2199	4300	6499	SO:0001583	missense	55719							g.chr10:102672946C>G	AF460991	CCDS7500.1, CCDS44470.1, CCDS65918.1	10q24.31	2008-07-18	2008-07-18	2008-07-18	ENSG00000119906	ENSG00000119906			17814	protein-coding gene	gene with protein product		610348	"""chromosome 10 open reading frame 6"""	C10orf6		12459258	Standard	NM_018121		Approved	FLJ10512, FLJ25012	uc001krs.3	Q8IX21	OTTHUMG00000018919	ENST00000238961.4:c.79C>G	10.37:g.102672946C>G	ENSP00000238961:p.Leu27Val					FAM178A_uc001krq.3_RNA|FAM178A_uc001krr.1_Missense_Mutation_p.L27V|FAM178A_uc001krs.2_Missense_Mutation_p.L27V	p.L27V	NM_018121	NP_060591	Q8IX21	F178A_HUMAN			1	621	+			27					A8K950|B1AL17|Q5W0L8|Q6GMU6|Q9NPE8	Missense_Mutation	SNP	ENST00000238961.4	37	c.79C>G	CCDS7500.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.465846	0.84425	.	.	ENSG00000119906	ENST00000370271;ENST00000238961;ENST00000370269	T;T;T	0.59224	0.28;0.95;0.93	5.25	5.25	0.73442	.	0.167404	0.28989	N	0.013490	T	0.63141	0.2486	N	0.24115	0.695	0.30611	N	0.759466	P;P;D	0.71674	0.844;0.844;0.998	B;B;D	0.77557	0.322;0.322;0.99	T	0.63143	-0.6703	10	0.52906	T	0.07	-1.0641	14.5237	0.67873	0.0:1.0:0.0:0.0	.	27;27;27	Q8IX21;B1AL17;B1AL16	F178A_HUMAN;.;.	V	27	ENSP00000359294:L27V;ENSP00000238961:L27V;ENSP00000359292:L27V	ENSP00000238961:L27V	L	+	1	2	FAM178A	102662936	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	1.110000	0.31147	2.890000	0.99128	0.585000	0.79938	CTG		0.697	FAM178A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049897.3				5	2	0	0	0	1	0	5	2		
TACC2	10579	broad.mit.edu	37	10	124008642	124008642	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr10:124008642G>A	ENST00000369005.1	+	21	8971	c.8631G>A	c.(8629-8631)ctG>ctA	p.L2877L	TACC2_ENST00000369004.3_Silent_p.L937L|TACC2_ENST00000260733.3_Silent_p.L955L|TACC2_ENST00000453444.2_Silent_p.L2804L|TACC2_ENST00000513429.1_Silent_p.L1023L|TACC2_ENST00000369000.1_Silent_p.L500L|TACC2_ENST00000368999.1_Silent_p.L967L|TACC2_ENST00000515603.1_Silent_p.L2755L|TACC2_ENST00000358010.1_Silent_p.L1023L|TACC2_ENST00000369001.1_Silent_p.L504L|TACC2_ENST00000334433.3_Silent_p.L2877L|TACC2_ENST00000360561.3_Silent_p.L925L|TACC2_ENST00000515273.1_Silent_p.L2804L	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2877					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				ACCAGGCCCTGAAGGTGCACG	0.602																																						uc001lfv.2		NaN																	0				ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10						c.(8629-8631)CTG>CTA		transforming, acidic coiled-coil containing							89.0	92.0	91.0					10																	124008642		2203	4300	6503	SO:0001819	synonymous_variant	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:124008642G>A	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.8631G>A	10.37:g.124008642G>A						TACC2_uc001lfw.2_Silent_p.L1023L|TACC2_uc009xzx.2_Silent_p.L2755L|TACC2_uc010qtv.1_Silent_p.L2804L|TACC2_uc001lfx.2_Silent_p.L504L|TACC2_uc001lfy.2_Silent_p.L500L|TACC2_uc001lfz.2_Silent_p.L955L|TACC2_uc001lga.2_Silent_p.L925L|TACC2_uc009xzy.2_Silent_p.L937L|TACC2_uc001lgb.2_Silent_p.L835L	p.L2877L	NM_206862	NP_996744	O95359	TACC2_HUMAN			21	8991	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	2877			Potential.		Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Silent	SNP	ENST00000369005.1	37	c.8631G>A	CCDS7626.1																																																																																				0.602	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1				3	5	0	0	0	1	0	3	5		
PLEKHA1	59338	broad.mit.edu	37	10	124175485	124175485	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr10:124175485C>G	ENST00000368990.3	+	7	710	c.579C>G	c.(577-579)atC>atG	p.I193M	PLEKHA1_ENST00000433307.1_Missense_Mutation_p.I193M|PLEKHA1_ENST00000368988.1_Missense_Mutation_p.I193M|PLEKHA1_ENST00000494222.1_3'UTR|MIR3941_ENST00000582572.1_RNA|PLEKHA1_ENST00000368989.2_Missense_Mutation_p.I193M|PLEKHA1_ENST00000538022.1_Missense_Mutation_p.I193M	NM_001001974.2	NP_001001974.1	Q9HB21	PKHA1_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1	193	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				androgen metabolic process (GO:0008209)|B cell receptor signaling pathway (GO:0050853)|cellular response to hydrogen peroxide (GO:0070301)|establishment of protein localization (GO:0045184)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|Leydig cell differentiation (GO:0033327)|luteinization (GO:0001553)|multicellular organism growth (GO:0035264)|negative regulation of protein kinase B signaling (GO:0051898)|palate development (GO:0060021)|phosphatidylinositol 3-kinase signaling (GO:0014065)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic development (GO:0009791)|ruffle organization (GO:0031529)|skeletal system morphogenesis (GO:0048705)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GTGCGGTTATCAAAGCTGGAT	0.348																																						uc001lge.1		NaN																	0				kidney(1)	1						c.(577-579)ATC>ATG		pleckstrin homology domain containing, family A							83.0	74.0	77.0					10																	124175485		2203	4300	6503	SO:0001583	missense	59338				B cell receptor signaling pathway|cellular response to hydrogen peroxide|establishment of protein localization|negative regulation of protein kinase B signaling cascade|phosphatidylinositol 3-kinase cascade|ruffle organization	cytoplasm|nucleus|ruffle membrane	PDZ domain binding|phosphatidylinositol-3,4-bisphosphate binding	g.chr10:124175485C>G	AF286160	CCDS7629.1, CCDS55730.1	10q26.3	2013-01-10	2002-01-14		ENSG00000107679	ENSG00000107679		"""Pleckstrin homology (PH) domain containing"""	14335	protein-coding gene	gene with protein product	"""tandem PH domain containing protein-1"""	607772	"""pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 1"""			11001876, 15485858	Standard	NM_001001974		Approved	TAPP1	uc001lge.2	Q9HB21	OTTHUMG00000019184	ENST00000368990.3:c.579C>G	10.37:g.124175485C>G	ENSP00000357986:p.Ile193Met					PLEKHA1_uc001lgf.1_Missense_Mutation_p.I193M|PLEKHA1_uc001lgg.1_Missense_Mutation_p.I193M|PLEKHA1_uc001lgh.2_Missense_Mutation_p.I193M	p.I193M	NM_001001974	NP_001001974	Q9HB21	PKHA1_HUMAN			7	702	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	193			PH 2.		B3KQ55|D3DRE2|Q9BVK0	Missense_Mutation	SNP	ENST00000368990.3	37	c.579C>G	CCDS7629.1	.	.	.	.	.	.	.	.	.	.	C	19.30	3.801317	0.70567	.	.	ENSG00000107679	ENST00000368990;ENST00000368989;ENST00000409427;ENST00000368988;ENST00000538022;ENST00000433307	T;T;T;T;T	0.14391	2.51;2.51;2.51;2.51;2.51	5.51	4.6	0.57074	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.34395	0.0896	M	0.75447	2.3	0.58432	D	0.999997	D;D	0.65815	0.995;0.995	D;D	0.81914	0.995;0.985	T	0.02263	-1.1186	10	0.52906	T	0.07	-19.564	10.8366	0.46690	0.0:0.8548:0.0:0.1452	.	193;193	B3KQ55;Q9HB21	.;PKHA1_HUMAN	M	193	ENSP00000357986:I193M;ENSP00000357985:I193M;ENSP00000357984:I193M;ENSP00000438608:I193M;ENSP00000394416:I193M	ENSP00000357984:I193M	I	+	3	3	PLEKHA1	124165475	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.287000	0.43505	2.591000	0.87537	0.655000	0.94253	ATC		0.348	PLEKHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050783.1		NM_001001974		16	1	0	0	0	1	0	16	1		
ART1	417	broad.mit.edu	37	11	3680949	3680949	+	Missense_Mutation	SNP	C	C	A	rs527878673		TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:3680949C>A	ENST00000250693.1	+	3	301	c.200C>A	c.(199-201)aCg>aAg	p.T67K		NM_004314.2	NP_004305.2	P52961	NAR1_HUMAN	ADP-ribosyltransferase 1	67					innate immune response (GO:0045087)|protein ADP-ribosylation (GO:0006471)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)	NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1)	8		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)		CTCAACCACACGGAGTTCCAG	0.602																																						uc001lye.1		NaN																	0					0						c.(199-201)ACG>AAG		ADP-ribosyltransferase 1 precursor	Becaplermin(DB00102)						46.0	41.0	43.0					11																	3680949		2201	4298	6499	SO:0001583	missense	417				protein ADP-ribosylation	anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity	g.chr11:3680949C>A	S74683	CCDS7744.1	11p15	2006-02-23			ENSG00000129744	ENSG00000129744		"""CD molecules"""	723	protein-coding gene	gene with protein product		601625				8812442	Standard	NM_004314		Approved	ART2, CD296	uc001lye.1	P52961	OTTHUMG00000011845	ENST00000250693.1:c.200C>A	11.37:g.3680949C>A	ENSP00000250693:p.Thr67Lys					ART1_uc009yeb.1_Missense_Mutation_p.T67K	p.T67K	NM_004314	NP_004305	P52961	NAR1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)	3	301	+		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)	67					Q6NTD2|Q96KT9	Missense_Mutation	SNP	ENST00000250693.1	37	c.200C>A	CCDS7744.1	.	.	.	.	.	.	.	.	.	.	C	12.73	2.026068	0.35701	.	.	ENSG00000129744	ENST00000250693	T	0.06849	3.25	5.38	5.38	0.77491	.	0.270376	0.41938	D	0.000796	T	0.08403	0.0209	N	0.17312	0.475	0.09310	N	1	P	0.48834	0.916	P	0.48704	0.587	T	0.32241	-0.9914	9	.	.	.	.	11.696	0.51544	0.1767:0.8232:0.0:0.0	.	67	P52961	NAR1_HUMAN	K	67	ENSP00000250693:T67K	.	T	+	2	0	ART1	3637525	0.015000	0.18098	0.255000	0.24374	0.359000	0.29487	2.365000	0.44196	2.522000	0.85027	0.467000	0.42956	ACG		0.602	ART1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032765.1		NM_004314		8	4	1	0	0.000274275	1	0.000279497	8	4		
OR52B4	143496	broad.mit.edu	37	11	4389102	4389102	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:4389102G>C	ENST00000408920.2	-	1	514	c.424C>G	c.(424-426)Ctg>Gtg	p.L142V		NM_001005161.3	NP_001005161.2	Q8NGK2	O52B4_HUMAN	olfactory receptor, family 52, subfamily B, member 4	142					cognition (GO:0050890)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTCTTGATCAGAGCATTTGTA	0.388																																						uc010qye.1		NaN																	0					0						c.(424-426)CTG>GTG		olfactory receptor, family 52, subfamily B,							102.0	98.0	99.0					11																	4389102		1955	4159	6114	SO:0001583	missense	143496				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4389102G>C	AB065792	CCDS41609.1	11p15.4	2012-08-09			ENSG00000221996	ENSG00000221996		"""GPCR / Class A : Olfactory receptors"""	15209	protein-coding gene	gene with protein product							Standard	NM_001005161		Approved		uc010qye.2	Q8NGK2	OTTHUMG00000154222	ENST00000408920.2:c.424C>G	11.37:g.4389102G>C	ENSP00000386160:p.Leu142Val						p.L142V	NM_001005161	NP_001005161	Q8NGK2	O52B4_HUMAN		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	424	-		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)	142			Helical; Name=4; (Potential).		A6NP68|Q6IFK6	Missense_Mutation	SNP	ENST00000408920.2	37	c.424C>G	CCDS41609.1	.	.	.	.	.	.	.	.	.	.	G	0	-2.757033	0.00085	.	.	ENSG00000221996	ENST00000408920	T	0.37235	1.21	5.28	-3.4	0.04853	GPCR, rhodopsin-like superfamily (1);	0.710893	0.11938	N	0.515039	T	0.07413	0.0187	N	0.01086	-1.025	0.09310	N	1	B	0.06786	0.001	B	0.11329	0.006	T	0.32348	-0.9910	10	0.02654	T	1	.	2.2994	0.04158	0.2587:0.3113:0.3242:0.1058	.	142	Q8NGK2	O52B4_HUMAN	V	142	ENSP00000386160:L142V	ENSP00000386160:L142V	L	-	1	2	OR52B4	4345678	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.550000	0.06034	-0.404000	0.07610	-0.182000	0.12963	CTG		0.388	OR52B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334449.3		NM_001005161		14	31	0	0	0	1	0	14	31		
TUB	7275	broad.mit.edu	37	11	8120357	8120357	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:8120357C>T	ENST00000299506.2	+	9	1200	c.1051C>T	c.(1051-1053)Cag>Tag	p.Q351*	TUB_ENST00000534099.1_Nonsense_Mutation_p.Q357*|TUB_ENST00000305253.4_Nonsense_Mutation_p.Q406*	NM_177972.2	NP_813977.1	P50607	TUB_HUMAN	tubby bipartite transcription factor	351					multicellular organismal macromolecule metabolic process (GO:0044259)|phagocytosis (GO:0006909)|phototransduction (GO:0007602)|positive regulation of phagocytosis (GO:0050766)|response to hormone (GO:0009725)|retina development in camera-type eye (GO:0060041)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled photoreceptor activity (GO:0008020)|protein complex binding (GO:0032403)	p.Q406*(1)		breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		AGTCAACCCTCAGAAGGCCTC	0.507											OREG0020732	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001mga.2		NaN																	1	Substitution - Nonsense(1)		large_intestine(1)	ovary(1)	1						c.(1051-1053)CAG>TAG		tubby isoform b							154.0	138.0	143.0					11																	8120357		2201	4296	6497	SO:0001587	stop_gained	7275				phagocytosis|positive regulation of phagocytosis|response to stimulus	cytoplasm|extracellular region|nucleus|plasma membrane		g.chr11:8120357C>T	U54644	CCDS7786.1, CCDS7787.1	11p15.5	2013-08-06	2013-08-06		ENSG00000166402	ENSG00000166402			12406	protein-coding gene	gene with protein product		601197	"""tubby (mouse) homolog"", ""tubby homolog (mouse)"""			8612280	Standard	NM_003320		Approved	rd5	uc001mfy.3	P50607	OTTHUMG00000165690	ENST00000299506.2:c.1051C>T	11.37:g.8120357C>T	ENSP00000299506:p.Gln351*		OREG0020732	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	646	TUB_uc010rbk.1_Nonsense_Mutation_p.Q357*|TUB_uc001mfy.2_Nonsense_Mutation_p.Q406*	p.Q351*	NM_177972	NP_813977	P50607	TUB_HUMAN		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)	9	1200	+		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)	351					D3DQU4|O00293|Q6B007	Nonsense_Mutation	SNP	ENST00000299506.2	37	c.1051C>T	CCDS7787.1	.	.	.	.	.	.	.	.	.	.	C	35	5.488317	0.96323	.	.	ENSG00000166402	ENST00000534099;ENST00000305253;ENST00000299506	.	.	.	5.27	3.28	0.37604	.	0.457935	0.25543	N	0.029952	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	-0.2154	3.2191	0.06708	0.2603:0.5203:0.1274:0.092	.	.	.	.	X	357;406;351	.	ENSP00000299506:Q351X	Q	+	1	0	TUB	8076933	0.216000	0.23585	1.000000	0.80357	0.996000	0.88848	0.890000	0.28295	2.610000	0.88304	0.555000	0.69702	CAG		0.507	TUB-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385823.1		NM_003320		17	66	0	0	0	1	0	17	66		
IPO7	10527	broad.mit.edu	37	11	9450610	9450610	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:9450610G>A	ENST00000379719.3	+	14	1600	c.1458G>A	c.(1456-1458)gtG>gtA	p.V486V	CTD-2371O3.2_ENST00000531111.1_RNA|SNORA23_ENST00000365128.1_RNA	NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	486					innate immune response (GO:0045087)|protein import into nucleus (GO:0006606)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)|small GTPase regulator activity (GO:0005083)|transporter activity (GO:0005215)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		TTTGTGAAGTGAAGTTCAAAA	0.388																																						uc001mho.2		NaN																	0				lung(1)|breast(1)	2						c.(1456-1458)GTG>GTA		importin 7							80.0	79.0	79.0					11																	9450610		2201	4295	6496	SO:0001819	synonymous_variant	10527				interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity	g.chr11:9450610G>A	AF098799	CCDS31425.1	11p15.3	2010-12-02	2003-03-11	2003-03-14	ENSG00000205339	ENSG00000205339		"""Importins"""	9852	protein-coding gene	gene with protein product		605586	"""RAN binding protein 7"""	RANBP7		9214382	Standard	NM_006391		Approved	Imp7	uc001mho.3	O95373	OTTHUMG00000165753	ENST00000379719.3:c.1458G>A	11.37:g.9450610G>A							p.V486V	NM_006391	NP_006382	O95373	IPO7_HUMAN		all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)	14	1600	+			486					A6NNM5|B2R786|Q1RMF7|Q9H177|Q9NTE3	Silent	SNP	ENST00000379719.3	37	c.1458G>A	CCDS31425.1																																																																																				0.388	IPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386022.1		NM_006391		27	22	0	0	0	1	0	27	22		
UEVLD	55293	broad.mit.edu	37	11	18555896	18555896	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:18555896G>A	ENST00000396197.3	-	11	1257	c.1229C>T	c.(1228-1230)tCt>tTt	p.S410F	UEVLD_ENST00000379387.4_Missense_Mutation_p.S388F|UEVLD_ENST00000543987.1_Intron|UEVLD_ENST00000541984.1_Intron|UEVLD_ENST00000535484.1_Intron|UEVLD_ENST00000320750.6_Intron|UEVLD_ENST00000540666.1_5'UTR	NM_001040697.2|NM_001261384.1	NP_001035787.1|NP_001248313.1			UEV and lactate/malate dehyrogenase domains											endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						AGCTGATACAGAATGCACTTT	0.299																																						uc001mot.2		NaN																	0					0						c.(1228-1230)TCT>TTT		ubiquitin-conjugating enzyme E2-like isoform a							106.0	92.0	96.0					11																	18555896		1840	4079	5919	SO:0001583	missense	55293				cellular carbohydrate metabolic process|protein modification process|protein transport		binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor	g.chr11:18555896G>A	AF503350	CCDS7843.1, CCDS41624.1, CCDS58122.1, CCDS58123.1, CCDS58124.1, CCDS58125.1, CCDS73266.1	11p15.1	2006-07-14			ENSG00000151116	ENSG00000151116			30866	protein-coding gene	gene with protein product		610985				12427560	Standard	NM_001040697		Approved	Attp, UEV3	uc001mot.4	Q8IX04	OTTHUMG00000167729	ENST00000396197.3:c.1229C>T	11.37:g.18555896G>A	ENSP00000379500:p.Ser410Phe					UEVLD_uc001mou.2_Intron|UEVLD_uc010rde.1_Missense_Mutation_p.S280F|UEVLD_uc010rdf.1_Missense_Mutation_p.S388F|UEVLD_uc010rdg.1_Missense_Mutation_p.S280F|UEVLD_uc001mov.2_Intron	p.S410F	NM_001040697	NP_001035787	Q8IX04	UEVLD_HUMAN			11	1309	-			410						Missense_Mutation	SNP	ENST00000396197.3	37	c.1229C>T	CCDS41624.1	.	.	.	.	.	.	.	.	.	.	G	19.95	3.921254	0.73213	.	.	ENSG00000151116	ENST00000396197;ENST00000379387;ENST00000540110	T;T	0.65364	-0.15;-0.15	5.44	5.44	0.79542	Lactate/malate dehydrogenase, C-terminal (1);Lactate dehydrogenase/glycoside hydrolase, family 4, C-terminal (2);	0.000000	0.64402	U	0.000001	T	0.78855	0.4349	M	0.72118	2.19	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.80888	-0.1181	10	0.87932	D	0	-7.3584	17.0309	0.86461	0.0:0.0:1.0:0.0	.	388;410	B4DL43;Q8IX04	.;UEVLD_HUMAN	F	410;388;187	ENSP00000379500:S410F;ENSP00000368697:S388F	ENSP00000368697:S388F	S	-	2	0	UEVLD	18512472	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.696000	0.74598	2.563000	0.86464	0.491000	0.48974	TCT		0.299	UEVLD-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395923.2		NM_018314		4	44	0	0	0	1	0	4	44		
SPTY2D1	144108	broad.mit.edu	37	11	18637593	18637593	+	Silent	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:18637593G>C	ENST00000336349.5	-	3	463	c.228C>G	c.(226-228)ctC>ctG	p.L76L	SPTY2D1_ENST00000543776.1_5'UTR	NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)	76										breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						TGTCATGTTTGAGCTCAATTC	0.388																																						uc001moy.2		NaN																	0				breast(1)	1						c.(226-228)CTC>CTG		SPT2, Suppressor of Ty, domain containing 1							157.0	130.0	140.0					11																	18637593		2199	4293	6492	SO:0001819	synonymous_variant	144108							g.chr11:18637593G>C	BX647798	CCDS31441.1	11p15.1	2005-10-28			ENSG00000179119	ENSG00000179119			26818	protein-coding gene	gene with protein product							Standard	NM_194285		Approved	FLJ39441, DKFZp686I068	uc001moy.3	Q68D10	OTTHUMG00000167733	ENST00000336349.5:c.228C>G	11.37:g.18637593G>C						SPTY2D1_uc010rdi.1_Silent_p.L76L	p.L76L	NM_194285	NP_919261	Q68D10	SPT2_HUMAN			3	444	-			76			Potential.		Q6AWA5|Q6MZI5|Q7Z390|Q7Z470|Q86VG8|Q8N3E7|Q8N417|Q8N8I3	Silent	SNP	ENST00000336349.5	37	c.228C>G	CCDS31441.1																																																																																				0.388	SPTY2D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395941.1		NM_194285		33	38	0	0	0	1	0	33	38		
LUZP2	338645	broad.mit.edu	37	11	24998163	24998163	+	Missense_Mutation	SNP	A	A	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:24998163A>T	ENST00000336930.6	+	8	615	c.549A>T	c.(547-549)caA>caT	p.Q183H	LUZP2_ENST00000533227.1_Missense_Mutation_p.Q97H			Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	183	Leucine-zipper.					extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						ATCTGGAACAAAAATTAGCTG	0.343																																						uc001mqs.2		NaN																	0				ovary(1)|skin(1)	2						c.(547-549)CAA>CAT		leucine zipper protein 2 precursor							56.0	61.0	59.0					11																	24998163		2203	4299	6502	SO:0001583	missense	338645					extracellular region		g.chr11:24998163A>T	AL832641	CCDS31446.1, CCDS58128.1	11p14.3	2005-09-18			ENSG00000187398	ENSG00000187398			23206	protein-coding gene	gene with protein product		608178				12856284	Standard	NM_001009909		Approved		uc001mqs.3	Q86TE4	OTTHUMG00000166109	ENST00000336930.6:c.549A>T	11.37:g.24998163A>T	ENSP00000336817:p.Gln183His					LUZP2_uc009yif.2_Missense_Mutation_p.Q97H|LUZP2_uc009yig.2_Missense_Mutation_p.Q141H	p.Q183H	NM_001009909	NP_001009909	Q86TE4	LUZP2_HUMAN			8	783	+			183			Potential.|Leucine-zipper.		A2RUB8|E9PN53|Q6UXE7|Q6ZS65	Missense_Mutation	SNP	ENST00000336930.6	37	c.549A>T	CCDS31446.1	.	.	.	.	.	.	.	.	.	.	A	14.42	2.529221	0.44969	.	.	ENSG00000187398	ENST00000336930;ENST00000529015;ENST00000533227	T;T;T	0.23754	1.89;1.89;1.89	5.15	2.83	0.33086	.	0.209268	0.40818	N	0.001019	T	0.28632	0.0709	L	0.27053	0.805	0.27915	N	0.938482	P;P	0.51791	0.948;0.828	P;P	0.57720	0.826;0.576	T	0.06058	-1.0848	10	0.72032	D	0.01	-2.3938	7.9317	0.29905	0.8272:0.0:0.1728:0.0	.	97;183	E9PN53;Q86TE4	.;LUZP2_HUMAN	H	183;141;97	ENSP00000336817:Q183H;ENSP00000437032:Q141H;ENSP00000432952:Q97H	ENSP00000336817:Q183H	Q	+	3	2	LUZP2	24954739	0.990000	0.36364	0.997000	0.53966	0.990000	0.78478	0.196000	0.17176	0.380000	0.24823	0.528000	0.53228	CAA		0.343	LUZP2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387861.1		NM_001009909		9	35	0	0	0	1	0	9	35		
CCDC73	493860	broad.mit.edu	37	11	32632777	32632777	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:32632777C>G	ENST00000335185.5	-	17	2974	c.2931G>C	c.(2929-2931)ttG>ttC	p.L977F		NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	977										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					TCCAGTTATTCAAAGTGTCAG	0.393																																						uc001mtv.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(2929-2931)TTG>TTC		sarcoma antigen NY-SAR-79							161.0	150.0	153.0					11																	32632777		1849	4099	5948	SO:0001583	missense	493860							g.chr11:32632777C>G	AK128159	CCDS41630.1	11p13	2006-02-11			ENSG00000186714	ENSG00000186714			23261	protein-coding gene	gene with protein product		612328					Standard	NM_001008391		Approved	NY-SAR-79	uc001mtv.4	Q6ZRK6	OTTHUMG00000166279	ENST00000335185.5:c.2931G>C	11.37:g.32632777C>G	ENSP00000335325:p.Leu977Phe						p.L977F	NM_001008391	NP_001008392	Q6ZRK6	CCD73_HUMAN			17	2975	-	Breast(20;0.112)		977					Q6P5Q7|Q6ZMW0|Q86WE7	Missense_Mutation	SNP	ENST00000335185.5	37	c.2931G>C	CCDS41630.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.951557	0.73787	.	.	ENSG00000186714	ENST00000335185	.	.	.	5.56	5.56	0.83823	.	0.439061	0.19124	N	0.122086	T	0.74084	0.3670	L	0.50333	1.59	0.80722	D	1	D	0.63046	0.992	P	0.62813	0.907	T	0.75303	-0.3365	9	0.72032	D	0.01	.	17.7146	0.88332	0.0:1.0:0.0:0.0	.	977	Q6ZRK6	CCD73_HUMAN	F	977	.	ENSP00000335325:L977F	L	-	3	2	CCDC73	32589353	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.111000	0.57838	2.613000	0.88420	0.655000	0.94253	TTG		0.393	CCDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388874.2		NM_001008391		26	78	0	0	0	1	0	26	78		
ALX4	60529	broad.mit.edu	37	11	44331236	44331236	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:44331236C>T	ENST00000329255.3	-	1	480	c.377G>A	c.(376-378)cGa>cAa	p.R126Q		NM_021926.3	NP_068745.2	Q9H161	ALX4_HUMAN	ALX homeobox 4	126					anterior/posterior pattern specification (GO:0009952)|digestive tract development (GO:0048565)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal system morphogenesis (GO:0048704)|hair follicle development (GO:0001942)|muscle organ development (GO:0007517)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of apoptotic process (GO:0042981)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						GCAGGCGCCTCGCTGCAAGTA	0.726																																						uc001myb.2		NaN																	0					0						c.(376-378)CGA>CAA		aristaless-like homeobox 4							5.0	5.0	5.0					11																	44331236		1899	3927	5826	SO:0001583	missense	60529				hair follicle development			g.chr11:44331236C>T	AF294629	CCDS31468.1	11p11.2	2011-06-20	2008-11-04		ENSG00000052850	ENSG00000052850		"""Homeoboxes / PRD class"""	450	protein-coding gene	gene with protein product		605420	"""parietal foramina 2"", ""aristaless-like homeobox 4"""	PFM2		11017806, 8644736	Standard	NM_021926		Approved	FPP, PFM, KIAA1788	uc001myb.3	Q9H161	OTTHUMG00000166557	ENST00000329255.3:c.377G>A	11.37:g.44331236C>T	ENSP00000332744:p.Arg126Gln						p.R126Q	NM_021926	NP_068745	Q9H161	ALX4_HUMAN			1	481	-			126					Q96JN7|Q9H198|Q9HAY9	Missense_Mutation	SNP	ENST00000329255.3	37	c.377G>A	CCDS31468.1	.	.	.	.	.	.	.	.	.	.	c	15.99	2.994746	0.54041	.	.	ENSG00000052850	ENST00000329255	D	0.90676	-2.71	4.69	4.69	0.59074	.	0.059773	0.64402	D	0.000010	D	0.93900	0.8048	M	0.71581	2.175	0.58432	D	0.999998	D	0.76494	0.999	P	0.61275	0.886	D	0.93055	0.6469	10	0.33141	T	0.24	.	17.6276	0.88097	0.0:1.0:0.0:0.0	.	126	Q9H161	ALX4_HUMAN	Q	126	ENSP00000332744:R126Q	ENSP00000332744:R126Q	R	-	2	0	ALX4	44287812	1.000000	0.71417	0.950000	0.38849	0.022000	0.10575	3.608000	0.54109	2.142000	0.66516	0.558000	0.71614	CGA		0.726	ALX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390399.1				4	0	0	0	0	1	0	4	0		
PRDM11	56981	broad.mit.edu	37	11	45246160	45246160	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:45246160G>C	ENST00000530656.1	+	7	1237	c.1237G>C	c.(1237-1239)Gag>Cag	p.E413Q	PRDM11_ENST00000528980.1_Intron|CTD-2560E9.3_ENST00000527450.1_RNA|PRDM11_ENST00000263765.4_Missense_Mutation_p.E413Q|PRDM11_ENST00000424263.2_Missense_Mutation_p.E379Q			Q9NQV5	PRD11_HUMAN	PR domain containing 11	413							methyltransferase activity (GO:0008168)			endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						AGGCCAATTGGAGGATGAAGA	0.577																																					NSCLC(118;1511 1736 6472 36603 43224)	uc001myo.2		NaN																	0				upper_aerodigestive_tract(1)	1						c.(1237-1239)GAG>CAG		PR domain containing 11							97.0	103.0	101.0					11																	45246160		2203	4299	6502	SO:0001583	missense	56981							g.chr11:45246160G>C	AF275818	CCDS58130.1, CCDS73277.1	11p11	2008-07-21			ENSG00000019485	ENSG00000019485			13996	protein-coding gene	gene with protein product	"""PR-domain containing protein 11"""						Standard	NM_001256695		Approved	PFM8	uc031qab.1	Q9NQV5	OTTHUMG00000166478	ENST00000530656.1:c.1237G>C	11.37:g.45246160G>C	ENSP00000435976:p.Glu413Gln						p.E413Q	NM_020229	NP_064614	Q9NQV5	PRD11_HUMAN			8	1486	+			413					Q8N9F1	Missense_Mutation	SNP	ENST00000530656.1	37	c.1237G>C		.	.	.	.	.	.	.	.	.	.	G	17.64	3.440501	0.63067	.	.	ENSG00000019485	ENST00000263765;ENST00000530656;ENST00000424263	T;T;T	0.29655	1.56;1.56;1.59	5.68	5.68	0.88126	.	0.097445	0.44483	D	0.000444	T	0.31420	0.0796	L	0.27053	0.805	0.44345	D	0.997231	P	0.43477	0.808	P	0.44359	0.447	T	0.03278	-1.1053	10	0.52906	T	0.07	-29.0668	19.7959	0.96481	0.0:0.0:1.0:0.0	.	413	Q9NQV5	PRD11_HUMAN	Q	413;413;379	ENSP00000263765:E413Q;ENSP00000435976:E413Q;ENSP00000394314:E379Q	ENSP00000263765:E413Q	E	+	1	0	PRDM11	45202736	1.000000	0.71417	0.989000	0.46669	0.311000	0.27955	8.428000	0.90278	2.689000	0.91719	0.655000	0.94253	GAG		0.577	PRDM11-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000389928.1		NM_020229		38	63	0	0	0	1	0	38	63		
OR5D13	390142	broad.mit.edu	37	11	55540964	55540964	+	Missense_Mutation	SNP	G	G	C	rs117263837	byFrequency	TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:55540964G>C	ENST00000361760.1	+	1	51	c.51G>C	c.(49-51)ttG>ttC	p.L17F		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	17						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				TTATTCTCTTGGGTTTTTCAG	0.383																																						uc010ril.1		NaN																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(49-51)TTG>TTC		olfactory receptor, family 5, subfamily D,							107.0	108.0	108.0					11																	55540964		2200	4296	6496	SO:0001583	missense	390142				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55540964G>C	BK004394	CCDS31507.1	11q11	2012-08-09			ENSG00000198877	ENSG00000198877		"""GPCR / Class A : Olfactory receptors"""	15280	protein-coding gene	gene with protein product							Standard	NM_001001967		Approved		uc010ril.2	Q8NGL4	OTTHUMG00000166807	ENST00000361760.1:c.51G>C	11.37:g.55540964G>C	ENSP00000354800:p.Leu17Phe						p.L17F	NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN			1	51	+		all_epithelial(135;0.196)	17			Extracellular (Potential).		Q6IF68|Q6IFC9	Missense_Mutation	SNP	ENST00000361760.1	37	c.51G>C	CCDS31507.1	.	.	.	.	.	.	.	.	.	.	G	14.41	2.526367	0.44969	.	.	ENSG00000198877	ENST00000361760	T	0.00637	6.05	3.52	0.446	0.16602	.	0.000000	0.27155	U	0.020665	T	0.02156	0.0067	M	0.81614	2.55	0.23994	N	0.996234	D	0.62365	0.991	P	0.59115	0.852	T	0.24190	-1.0167	10	0.87932	D	0	-11.5131	8.7939	0.34868	0.2932:0.0:0.7068:0.0	.	17	Q8NGL4	OR5DD_HUMAN	F	17	ENSP00000354800:L17F	ENSP00000354800:L17F	L	+	3	2	OR5D13	55297540	0.001000	0.12720	0.043000	0.18650	0.051000	0.14879	-0.471000	0.06631	0.289000	0.22422	0.486000	0.48141	TTG		0.383	OR5D13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391511.1		NM_001001967		37	244	0	0	0	1	0	37	244		
OR5M10	390167	broad.mit.edu	37	11	56344278	56344278	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:56344278C>T	ENST00000526812.2	-	1	985	c.920G>A	c.(919-921)gGa>gAa	p.G307E		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	307						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						AAAGGATTTTCCCCTAATCAT	0.373																																						uc001niz.1		NaN																	0					0						c.(919-921)GGA>GAA		olfactory receptor, family 5, subfamily M,							151.0	151.0	151.0					11																	56344278		1826	4082	5908	SO:0001583	missense	390167				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56344278C>T	BK004515	CCDS53630.1	11q11	2012-08-09				ENSG00000254834		"""GPCR / Class A : Olfactory receptors"""	15290	protein-coding gene	gene with protein product							Standard	NM_001004741		Approved		uc001niz.1	Q6IEU7		ENST00000526812.2:c.920G>A	11.37:g.56344278C>T	ENSP00000436004:p.Gly307Glu						p.G307E	NM_001004741	NP_001004741	Q6IEU7	OR5MA_HUMAN			1	920	-			307			Cytoplasmic (Potential).		B9EIL9	Missense_Mutation	SNP	ENST00000526812.2	37	c.920G>A	CCDS53630.1	.	.	.	.	.	.	.	.	.	.	C	0.891	-0.725453	0.03158	.	.	ENSG00000254834	ENST00000526812	T	0.37915	1.17	3.84	1.86	0.25419	.	.	.	.	.	T	0.20129	0.0484	N	0.17764	0.52	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.17806	-1.0357	9	0.52906	T	0.07	.	2.8064	0.05429	0.2407:0.5431:0.0:0.2162	.	307	Q6IEU7	OR5MA_HUMAN	E	307	ENSP00000436004:G307E	ENSP00000436004:G307E	G	-	2	0	OR5M10	56100854	0.000000	0.05858	0.002000	0.10522	0.070000	0.16714	-0.174000	0.09839	0.885000	0.36088	0.517000	0.50305	GGA		0.373	OR5M10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391609.1		NM_001004741		75	251	0	0	0	1	0	75	251		
OSBP	5007	broad.mit.edu	37	11	59368846	59368846	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:59368846G>A	ENST00000263847.1	-	5	1513	c.1034C>T	c.(1033-1035)tCt>tTt	p.S345F		NM_002556.2	NP_002547.1	P22059	OSBP1_HUMAN	oxysterol binding protein	345					lipid transport (GO:0006869)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	oxysterol binding (GO:0008142)			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		CCCTTTGCCAGAGCAGCACTG	0.393																																						uc001noc.1		NaN																	0				large_intestine(1)	1						c.(1033-1035)TCT>TTT		oxysterol binding protein							105.0	97.0	100.0					11																	59368846		2201	4295	6496	SO:0001583	missense	5007				lipid transport	Golgi membrane	oxysterol binding	g.chr11:59368846G>A	AF185696	CCDS7974.1	11q12-q13	2013-01-10			ENSG00000110048	ENSG00000110048		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	8503	protein-coding gene	gene with protein product		167040					Standard	NM_002556		Approved	OSBP1	uc001noc.1	P22059	OTTHUMG00000167422	ENST00000263847.1:c.1034C>T	11.37:g.59368846G>A	ENSP00000263847:p.Ser345Phe					OSBP_uc009ymr.1_5'Flank	p.S345F	NM_002556	NP_002547	P22059	OSBP1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)	5	1514	-		all_epithelial(135;0.000236)	345					Q6P524	Missense_Mutation	SNP	ENST00000263847.1	37	c.1034C>T	CCDS7974.1	.	.	.	.	.	.	.	.	.	.	G	18.68	3.675315	0.67928	.	.	ENSG00000110048	ENST00000263847	T	0.33216	1.42	5.52	5.52	0.82312	.	0.278041	0.41823	D	0.000811	T	0.30008	0.0751	L	0.38531	1.155	0.42116	D	0.991403	P	0.40376	0.715	B	0.38500	0.275	T	0.06570	-1.0819	10	0.54805	T	0.06	-8.3211	19.0554	0.93062	0.0:0.0:1.0:0.0	.	345	P22059	OSBP1_HUMAN	F	345	ENSP00000263847:S345F	ENSP00000263847:S345F	S	-	2	0	OSBP	59125422	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.496000	0.73670	2.612000	0.88384	0.655000	0.94253	TCT		0.393	OSBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394555.1				13	43	0	0	0	1	0	13	43		
DAGLA	747	broad.mit.edu	37	11	61488339	61488339	+	Missense_Mutation	SNP	A	A	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:61488339A>C	ENST00000257215.5	+	3	400	c.284A>C	c.(283-285)cAg>cCg	p.Q95P		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	95					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|cell death (GO:0008219)|diacylglycerol catabolic process (GO:0046340)|endocannabinoid signaling pathway (GO:0071926)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		GACTCCATGCAGTACGTGCTC	0.612																																						uc001nsa.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(283-285)CAG>CCG		neural stem cell-derived dendrite regulator							58.0	54.0	55.0					11																	61488339		2202	4299	6501	SO:0001583	missense	747				cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	g.chr11:61488339A>C	AB014559	CCDS31578.1	11q12.3	2008-03-18	2007-02-28	2007-02-28		ENSG00000134780	3.1.1.-		1165	protein-coding gene	gene with protein product	"""neural stem cell-derived dendrite regulator"""	614015	"""chromosome 11 open reading frame 11"""	C11orf11		9734811	Standard	NM_006133		Approved	KIAA0659, NSDDR, DAGLALPHA	uc001nsa.3	Q9Y4D2		ENST00000257215.5:c.284A>C	11.37:g.61488339A>C	ENSP00000257215:p.Gln95Pro						p.Q95P	NM_006133	NP_006124	Q9Y4D2	DGLA_HUMAN		READ - Rectum adenocarcinoma(4;0.219)	3	395	+			95			Cytoplasmic (Potential).		A7E233|Q6WQJ0	Missense_Mutation	SNP	ENST00000257215.5	37	c.284A>C	CCDS31578.1	.	.	.	.	.	.	.	.	.	.	A	15.43	2.830115	0.50845	.	.	ENSG00000134780	ENST00000257215	T	0.21361	2.01	4.72	4.72	0.59763	.	0.000000	0.85682	D	0.000000	T	0.24774	0.0601	N	0.10874	0.06	0.80722	D	1	D	0.61697	0.99	D	0.70487	0.969	T	0.13575	-1.0504	10	0.20046	T	0.44	-28.2911	14.5407	0.67990	1.0:0.0:0.0:0.0	.	95	Q9Y4D2	DGLA_HUMAN	P	95	ENSP00000257215:Q95P	ENSP00000257215:Q95P	Q	+	2	0	DAGLA	61244915	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.595000	0.90840	1.895000	0.54865	0.459000	0.35465	CAG		0.612	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398516.1		NM_006133		20	44	0	0	0	1	0	20	44		
AHNAK	79026	broad.mit.edu	37	11	62289440	62289440	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:62289440G>A	ENST00000378024.4	-	5	12723	c.12449C>T	c.(12448-12450)tCt>tTt	p.S4150F	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4150					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TTTGGGCAGAGAAACGTCCAC	0.522																																						uc001ntl.2		NaN																	0				ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(12448-12450)TCT>TTT		AHNAK nucleoprotein isoform 1							110.0	108.0	108.0					11																	62289440		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62289440G>A	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.12449C>T	11.37:g.62289440G>A	ENSP00000367263:p.Ser4150Phe					AHNAK_uc001ntk.1_Intron	p.S4150F	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	12749	-		Melanoma(852;0.155)	4150					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.12449C>T	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	g	11.69	1.715068	0.30413	.	.	ENSG00000124942	ENST00000378024	T	0.05649	3.41	4.21	4.21	0.49690	.	0.227351	0.37809	N	0.001931	T	0.35653	0.0939	H	0.95611	3.695	0.24359	N	0.994887	D	0.76494	0.999	D	0.83275	0.996	T	0.45702	-0.9243	10	0.72032	D	0.01	.	14.3595	0.66761	0.0:0.0:1.0:0.0	.	4150	Q09666	AHNK_HUMAN	F	4150	ENSP00000367263:S4150F	ENSP00000367263:S4150F	S	-	2	0	AHNAK	62046016	0.902000	0.30710	0.003000	0.11579	0.047000	0.14425	3.312000	0.51927	1.913000	0.55393	0.393000	0.25936	TCT		0.522	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1		NM_024060		41	92	0	0	0	1	0	41	92		
TUT1	64852	broad.mit.edu	37	11	62348892	62348892	+	Silent	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:62348892G>C	ENST00000476907.1	-	3	1246	c.555C>G	c.(553-555)gcC>gcG	p.A185A	TUT1_ENST00000308436.7_Silent_p.A223A|MIR3654_ENST00000496634.2_Silent_p.A185A			Q9H6E5	STPAP_HUMAN	terminal uridylyl transferase 1, U6 snRNA-specific	185					mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|snRNA processing (GO:0016180)	intercellular bridge (GO:0045171)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|mRNA 3'-UTR binding (GO:0003730)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)|RNA uridylyltransferase activity (GO:0050265)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						CCTGCATCAGGGCCACCACTA	0.587																																						uc001nto.2		NaN																	0				central_nervous_system(1)|skin(1)	2						c.(667-669)GCC>GCG		terminal uridylyl transferase 1, U6							39.0	37.0	37.0					11																	62348892		2202	4299	6501	SO:0001819	synonymous_variant	64852				mRNA cleavage|mRNA polyadenylation|snRNA processing	nuclear speck|nucleolus	ATP binding|enzyme binding|mRNA 3'-UTR binding|polynucleotide adenylyltransferase activity|RNA uridylyltransferase activity|zinc ion binding	g.chr11:62348892G>C	BC005013	CCDS8021.1, CCDS8021.2	11q12.2	2014-03-05	2006-10-06	2006-10-06	ENSG00000149016	ENSG00000149016	2.7.7.52	"""RNA binding motif (RRM) containing"""	26184	protein-coding gene	gene with protein product	"""RNA uridylyltransferase"", ""U6 TUTase"", ""TUTase 6"""	610641	"""RNA binding motif protein 21"""	RBM21		16790842	Standard	NM_022830		Approved	FLJ22347, FLJ22267, FLJ21850, PAPD2, TUTase	uc001nto.2	Q9H6E5	OTTHUMG00000158564	ENST00000476907.1:c.555C>G	11.37:g.62348892G>C							p.A223A	NM_022830	NP_073741	Q9H6E5	STPAP_HUMAN			3	707	-			185					A1A527|A8K995|Q2NL65|Q7L583|Q9H6H7	Silent	SNP	ENST00000476907.1	37	c.669C>G																																																																																					0.587	TUT1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000351319.2		NM_022830		6	23	0	0	0	1	0	6	23		
NXF1	10482	broad.mit.edu	37	11	62561884	62561884	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:62561884C>G	ENST00000532297.1	-	20	2235	c.1606G>C	c.(1606-1608)Gtg>Ctg	p.V536L	TMEM223_ENST00000307366.7_5'Flank|TMEM223_ENST00000527073.1_5'Flank|NXF1_ENST00000294172.2_Missense_Mutation_p.V536L|TMEM223_ENST00000525631.1_5'Flank|NXF1_ENST00000531709.2_3'UTR|NXF1_ENST00000533048.1_5'UTR			Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1	536	NTF2. {ECO:0000255|PROSITE- ProRule:PRU00137}.				gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear inclusion body (GO:0042405)|nuclear pore (GO:0005643)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)	mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GCATTCCGCACAAATAGCTCA	0.493																																						uc001nvf.1		NaN																	0				skin(3)	3						c.(1606-1608)GTG>CTG		nuclear RNA export factor 1 isoform 1							105.0	99.0	101.0					11																	62561884		2201	4299	6500	SO:0001583	missense	10482				gene expression|interspecies interaction between organisms	cytosol|nuclear speck	nucleotide binding|protein binding	g.chr11:62561884C>G	AF112880	CCDS8037.1, CCDS44629.1	11q12-q13	2008-07-21			ENSG00000162231	ENSG00000162231			8071	protein-coding gene	gene with protein product	"""tip associating protein"""	602647				9175835, 9660949	Standard	NM_001081491		Approved	TAP, Mex67, DKFZp667O0311	uc001nvf.1	Q9UBU9	OTTHUMG00000167612	ENST00000532297.1:c.1606G>C	11.37:g.62561884C>G	ENSP00000436679:p.Val536Leu					TMEM223_uc001nve.2_5'Flank|NXF1_uc001nvg.1_3'UTR|NXF1_uc009yog.1_Missense_Mutation_p.V579L	p.V536L	NM_006362	NP_006353	Q9UBU9	NXF1_HUMAN			19	1742	-			536			NTF2.		B4E269|Q99799|Q9UQL2	Missense_Mutation	SNP	ENST00000532297.1	37	c.1606G>C	CCDS8037.1	.	.	.	.	.	.	.	.	.	.	C	14.85	2.659918	0.47572	.	.	ENSG00000162231	ENST00000294172;ENST00000532297;ENST00000530875	T;T;T	0.62941	-0.01;-0.01;0.71	4.85	3.92	0.45320	Nuclear transport factor 2, Eukaryote (1);	0.140006	0.47852	D	0.000204	T	0.50990	0.1648	L	0.53671	1.685	0.80722	D	1	B;B	0.26577	0.153;0.016	B;B	0.29663	0.105;0.024	T	0.37572	-0.9700	10	0.12430	T	0.62	-18.7902	7.5839	0.27980	0.0:0.8126:0.0:0.1874	.	579;536	E9PIN3;Q9UBU9	.;NXF1_HUMAN	L	536;536;579	ENSP00000294172:V536L;ENSP00000436679:V536L;ENSP00000435742:V579L	ENSP00000294172:V536L	V	-	1	0	NXF1	62318460	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	1.841000	0.39240	2.526000	0.85167	0.462000	0.41574	GTG		0.493	NXF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395365.2		NM_006362		8	43	0	0	0	1	0	8	43		
SLC22A8	9376	broad.mit.edu	37	11	62760912	62760912	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:62760912C>T	ENST00000336232.2	-	10	1648	c.1513G>A	c.(1513-1515)Gaa>Aaa	p.E505K	SLC22A8_ENST00000535878.1_Missense_Mutation_p.E382K|SLC22A8_ENST00000542795.1_5'Flank|SLC22A8_ENST00000311438.8_Missense_Mutation_p.E505K|SLC22A8_ENST00000545207.1_Missense_Mutation_p.E414K|SLC22A8_ENST00000430500.2_Missense_Mutation_p.E505K	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	505					glutathione transport (GO:0034635)|response to methotrexate (GO:0031427)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|quaternary ammonium group transmembrane transporter activity (GO:0015651)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Aspartame(DB00168)|Baclofen(DB00181)|Benzylpenicillin(DB01053)|Bumetanide(DB00887)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Cilastatin(DB01597)|Cimetidine(DB00501)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Estradiol(DB00783)|Famotidine(DB00927)|Furosemide(DB00695)|Ganciclovir(DB01004)|Guanidine(DB00536)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|L-Carnitine(DB00583)|Liothyronine(DB00279)|Liotrix(DB01583)|Melatonin(DB01065)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Minocycline(DB01017)|Novobiocin(DB01051)|Oseltamivir(DB00198)|Ouabain(DB01092)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Ranitidine(DB00863)|Salicylic acid(DB00936)|Saxagliptin(DB06335)|Succinic acid(DB00139)|Tenofovir(DB00300)|Tenoxicam(DB00469)|Testosterone(DB00624)|Tetracycline(DB00759)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Zidovudine(DB00495)	TCCAGGTCTTCGATAGTCTCT	0.597																																						uc001nwo.2		NaN																	0				skin(2)|ovary(1)	3						c.(1513-1515)GAA>AAA		solute carrier family 22 member 8							82.0	78.0	80.0					11																	62760912		2201	4298	6499	SO:0001583	missense	9376				response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity	g.chr11:62760912C>T	AF097491, BC022387	CCDS8042.1, CCDS53643.1, CCDS53644.1	11q12.3	2013-05-22			ENSG00000149452	ENSG00000149452		"""Solute carriers"""	10972	protein-coding gene	gene with protein product		607581				10049739	Standard	NM_004254		Approved	OAT3	uc001nwo.3	Q8TCC7	OTTHUMG00000167768	ENST00000336232.2:c.1513G>A	11.37:g.62760912C>T	ENSP00000337335:p.Glu505Lys					SLC22A8_uc001nwn.1_3'UTR|SLC22A8_uc001nwp.2_Missense_Mutation_p.E505K|SLC22A8_uc009yom.2_Missense_Mutation_p.E382K|SLC22A8_uc010rmm.1_Missense_Mutation_p.E414K|SLC22A8_uc009yon.2_Missense_Mutation_p.E505K	p.E505K	NM_004254	NP_004245	Q8TCC7	S22A8_HUMAN			10	1649	-			505			Extracellular (Potential).		B4DPH7|F5GWA8|F5H5J1|O95820|Q59EW9|Q96TC1	Missense_Mutation	SNP	ENST00000336232.2	37	c.1513G>A	CCDS8042.1	.	.	.	.	.	.	.	.	.	.	C	16.07	3.017246	0.54576	.	.	ENSG00000149452	ENST00000336232;ENST00000540631;ENST00000545207;ENST00000535878;ENST00000311438;ENST00000430500	T;T;T;T;T	0.70399	-0.46;-0.48;-0.39;-0.46;-0.46	5.63	5.63	0.86233	.	.	.	.	.	T	0.74581	0.3735	M	0.79614	2.46	0.33066	D	0.534771	B;B	0.16802	0.016;0.019	B;B	0.23574	0.028;0.047	T	0.78001	-0.2375	9	0.62326	D	0.03	.	17.1834	0.86860	0.0:1.0:0.0:0.0	.	505;505	Q8TCC7-2;Q8TCC7	.;S22A8_HUMAN	K	505;491;414;382;505;505	ENSP00000337335:E505K;ENSP00000441658:E414K;ENSP00000443368:E382K;ENSP00000311463:E505K;ENSP00000398548:E505K	ENSP00000311463:E505K	E	-	1	0	SLC22A8	62517488	0.411000	0.25384	0.381000	0.26106	0.993000	0.82548	0.902000	0.28459	2.644000	0.89710	0.591000	0.81541	GAA		0.597	SLC22A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396191.1		NM_004254		24	57	0	0	0	1	0	24	57		
PLCB3	5331	broad.mit.edu	37	11	64026396	64026396	+	Silent	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:64026396C>G	ENST00000540288.1	+	12	1396	c.1293C>G	c.(1291-1293)tcC>tcG	p.S431S	PLCB3_ENST00000279230.6_Silent_p.S431S|PLCB3_ENST00000325234.5_Silent_p.S364S	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	431	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|regulation of systemic arterial blood pressure (GO:0003073)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						ACTGCCGCTCCATCTTTGGAG	0.637																																						uc001nzb.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(1291-1293)TCC>TCG		phospholipase C beta 3							61.0	63.0	62.0					11																	64026396		2201	4297	6498	SO:0001819	synonymous_variant	5331				intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr11:64026396C>G	Z26649	CCDS8064.1, CCDS53654.1	11q13	2008-03-18			ENSG00000149782	ENSG00000149782	3.1.4.11		9056	protein-coding gene	gene with protein product		600230				7849701	Standard	NM_000932		Approved		uc009ypg.2	Q01970	OTTHUMG00000167816	ENST00000540288.1:c.1293C>G	11.37:g.64026396C>G						PLCB3_uc009ypg.1_Silent_p.S431S|PLCB3_uc009yph.1_Silent_p.S364S|PLCB3_uc009ypi.2_Silent_p.S431S	p.S431S	NM_000932	NP_000923	Q01970	PLCB3_HUMAN			12	1293	+			431			PI-PLC X-box.		A5PKZ6|G5E960|Q8N1A4	Silent	SNP	ENST00000540288.1	37	c.1293C>G	CCDS8064.1																																																																																				0.637	PLCB3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396405.1				9	21	0	0	0	1	0	9	21		
NRXN2	9379	broad.mit.edu	37	11	64457929	64457929	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:64457929G>A	ENST00000377551.1	-	4	1009	c.798C>T	c.(796-798)tcC>tcT	p.S266S	NRXN2_ENST00000265459.6_Silent_p.S266S|NRXN2_ENST00000377559.3_Intron|NRXN2_ENST00000409571.1_Silent_p.S266S			Q9P2S2	NRX2A_HUMAN	neurexin 2	266					adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						CCCCCCCCTCGGAGAACAGTA	0.647																																						uc001oar.2		NaN																	0				upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1)	10						c.(796-798)TCC>TCT		neurexin 2 isoform alpha-1 precursor							31.0	32.0	32.0					11																	64457929		2201	4297	6498	SO:0001819	synonymous_variant	9379				cell adhesion	integral to membrane		g.chr11:64457929G>A		CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"""neurexin II"""	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.798C>T	11.37:g.64457929G>A						NRXN2_uc001oas.2_Intron|NRXN2_uc001oaq.2_5'UTR	p.S266S	NM_015080	NP_055895	P58401	NRX2B_HUMAN			6	1237	-			Error:Variant_position_missing_in_P58401_after_alignment					A7E2C1|Q9Y2D6	Silent	SNP	ENST00000377551.1	37	c.798C>T	CCDS8077.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.999|9.999	1.233078|1.233078	0.22626|0.22626	.|.	.|.	ENSG00000110076|ENSG00000110076	ENST00000417749|ENST00000437746	.|.	.|.	.|.	4.58|4.58	3.64|3.64	0.41730|0.41730	.|.	.|.	.|.	.|.	.|.	T|.	0.58466|.	0.2124|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.55347|.	-0.8155|.	4|.	.|.	.|.	.|.	.|.	9.2035|9.2035	0.37275|0.37275	0.1091:0.0:0.8909:0.0|0.1091:0.0:0.8909:0.0	.|.	.|.	.|.	.|.	L|X	27|56	.|.	.|.	P|R	-|-	2|1	0|2	NRXN2|NRXN2	64214505|64214505	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	3.134000|3.134000	0.50538|0.50538	2.288000|2.288000	0.76882|0.76882	0.442000|0.442000	0.29010|0.29010	CCG|CGA		0.647	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104967.3		NM_015080		14	9	0	0	0	1	0	14	9		
ATG2A	23130	broad.mit.edu	37	11	64673042	64673042	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:64673042G>T	ENST00000377264.3	-	24	3569	c.3457C>A	c.(3457-3459)Ctg>Atg	p.L1153M	ATG2A_ENST00000421419.2_Missense_Mutation_p.L1153M	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1153					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						TACCTGAGCAGGAAGGTGGAG	0.617																																						uc001obx.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(3457-3459)CTG>ATG		autophagy related 2A							139.0	103.0	115.0					11																	64673042		2199	4295	6494	SO:0001583	missense	23130						protein binding	g.chr11:64673042G>T		CCDS31602.1	11q13.1	2014-02-12	2012-06-06		ENSG00000110046	ENSG00000110046			29028	protein-coding gene	gene with protein product			"""ATG2 autophagy related 2 homolog A (S. cerevisiae)"""			21887408	Standard	NM_015104		Approved	KIAA0404	uc001obx.3	Q2TAZ0	OTTHUMG00000066831	ENST00000377264.3:c.3457C>A	11.37:g.64673042G>T	ENSP00000366475:p.Leu1153Met					ATG2A_uc001obw.2_5'Flank	p.L1153M	NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN			24	3572	-			1153					O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Missense_Mutation	SNP	ENST00000377264.3	37	c.3457C>A	CCDS31602.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.69|14.69	2.611047|2.611047	0.46631|0.46631	.|.	.|.	ENSG00000110046|ENSG00000110046	ENST00000421419;ENST00000377264|ENST00000418259	T;T|.	0.08008|.	3.14;3.14|.	4.96|4.96	1.93|1.93	0.25924|0.25924	.|.	0.091442|.	0.47093|.	D|.	0.000252|.	T|T	0.44286|0.44286	0.1286|0.1286	L|L	0.46157|0.46157	1.445|1.445	0.30878|0.30878	N|N	0.731703|0.731703	D|.	0.71674|.	0.998|.	P|.	0.61940|.	0.896|.	T|T	0.45745|0.45745	-0.9240|-0.9240	10|5	0.42905|.	T|.	0.14|.	.|.	8.3153|8.3153	0.32097|0.32097	0.2716:0.0:0.7284:0.0|0.2716:0.0:0.7284:0.0	.|.	1153|.	Q2TAZ0|.	ATG2A_HUMAN|.	M|H	1153|954	ENSP00000410522:L1153M;ENSP00000366475:L1153M|.	ENSP00000366475:L1153M|.	L|P	-|-	1|2	2|0	ATG2A|ATG2A	64429618|64429618	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.977000|0.977000	0.68977|0.68977	3.027000|3.027000	0.49697|0.49697	0.194000|0.194000	0.20326|0.20326	-0.354000|-0.354000	0.07668|0.07668	CTG|CCT		0.617	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000143224.1		NM_015104		8	3	1	0	5.4927e-09	1	5.81883e-09	8	3		
VPS51	738	broad.mit.edu	37	11	64876860	64876860	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:64876860G>T	ENST00000279281.3	+	6	1644	c.1552G>T	c.(1552-1554)Gcc>Tcc	p.A518S	TM7SF2_ENST00000540748.1_5'Flank|VPS51_ENST00000527646.1_3'UTR|AP003068.9_ENST00000528887.1_RNA|TM7SF2_ENST00000345348.5_5'Flank|TM7SF2_ENST00000279263.7_5'Flank	NM_013265.2	NP_037397.2	Q9UID3	VPS51_HUMAN	vacuolar protein sorting 51 homolog (S. cerevisiae)	518					autophagy (GO:0006914)|lipid transport (GO:0006869)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	GARP complex (GO:0000938)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)											GAAGGGGGGTGCCACACCACC	0.617																																						uc001ocr.1		NaN																	0					0						c.(1552-1554)GCC>TCC		chromosome 11 open reading frame 2							98.0	93.0	95.0					11																	64876860		2201	4297	6498	SO:0001583	missense	738				lipid transport|protein transport	Golgi apparatus|integral to membrane		g.chr11:64876860G>T	AF024631	CCDS8093.1	11q13.1	2012-07-19	2012-07-19	2012-07-19	ENSG00000149823	ENSG00000149823			1172	protein-coding gene	gene with protein product	"""fat-free homolog (zebrafish)"""	615738	"""chromosome 11 open reading frame 3"", ""chromosome 11 open reading frame 2"""	C11orf3, C11orf2		9286704, 20685960	Standard	NM_013265		Approved	ANG2, ANG3, FFR	uc001ocr.2	Q9UID3	OTTHUMG00000165600	ENST00000279281.3:c.1552G>T	11.37:g.64876860G>T	ENSP00000279281:p.Ala518Ser					TM7SF2_uc001oct.2_5'Flank|TM7SF2_uc010rny.1_5'Flank|TM7SF2_uc001ocu.2_5'Flank|TM7SF2_uc001ocv.2_5'Flank|C11orf2_uc001ocs.1_Missense_Mutation_p.A394S	p.A518S	NM_013265	NP_037397	Q9UID3	FFR_HUMAN			6	1592	+			518					Q6PJV5|Q7L8A6|Q8WZ35|Q96DF4|Q96GR3	Missense_Mutation	SNP	ENST00000279281.3	37	c.1552G>T	CCDS8093.1	.	.	.	.	.	.	.	.	.	.	G	5.810	0.333699	0.11013	.	.	ENSG00000149823	ENST00000279281	.	.	.	5.62	5.62	0.85841	.	0.178022	0.50627	D	0.000104	T	0.27866	0.0686	N	0.10837	0.055	0.41401	D	0.987672	B	0.11235	0.004	B	0.06405	0.002	T	0.18840	-1.0324	9	0.02654	T	1	0.1665	10.5598	0.45140	0.0875:0.0:0.9125:0.0	.	518	Q9UID3	FFR_HUMAN	S	518	.	ENSP00000279281:A518S	A	+	1	0	C11orf2	64633436	0.970000	0.33590	0.988000	0.46212	0.997000	0.91878	1.686000	0.37669	2.650000	0.89964	0.561000	0.74099	GCC		0.617	VPS51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385217.1		NM_013265		6	36	1	0	3.59834e-05	1	3.70396e-05	6	36		
SYVN1	84447	broad.mit.edu	37	11	64895935	64895935	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:64895935C>T	ENST00000377190.3	-	16	1867	c.1773G>A	c.(1771-1773)gaG>gaA	p.E591E	SYVN1_ENST00000307289.6_Silent_p.E539E|SYVN1_ENST00000526060.1_Silent_p.E590E|SYVN1_ENST00000294256.8_Silent_p.E590E|SYVN1_ENST00000526121.1_5'Flank	NM_172230.2	NP_757385.1	Q86TM6	SYVN1_HUMAN	synovial apoptosis inhibitor 1, synoviolin	591					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|in utero embryonic development (GO:0001701)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						CCTCAGGCATCTCCTCTGTGC	0.642																																						uc001odb.2		NaN																	0				ovary(1)	1						c.(1771-1773)GAG>GAA		synoviolin 1 isoform b							38.0	44.0	42.0					11																	64895935		2201	4297	6498	SO:0001819	synonymous_variant	84447				ER-associated protein catabolic process|response to stress	endoplasmic reticulum membrane|integral to membrane|nucleus	acid-amino acid ligase activity|protein binding|zinc ion binding	g.chr11:64895935C>T	AB085847	CCDS8097.1, CCDS31605.1	11q13	2013-01-09			ENSG00000162298	ENSG00000162298		"""RING-type (C3HC4) zinc fingers"""	20738	protein-coding gene	gene with protein product	"""HMG-coA reductase degradation 1 homolog (S. cerevisiae)"""	608046				12975321	Standard	NM_032431		Approved	HRD1, DER3	uc001odb.3	Q86TM6		ENST00000377190.3:c.1773G>A	11.37:g.64895935C>T						SYVN1_uc001odc.2_Silent_p.E590E|SYVN1_uc009yqc.2_Silent_p.E539E	p.E591E	NM_172230	NP_757385	Q86TM6	SYVN1_HUMAN			16	1867	-			591			Cytoplasmic (Potential).		Q8N3K3|Q8N6E8|Q96JL5|Q96PK3	Silent	SNP	ENST00000377190.3	37	c.1773G>A	CCDS31605.1	.	.	.	.	.	.	.	.	.	.	c	7.022	0.558849	0.13436	.	.	ENSG00000162298	ENST00000434219	.	.	.	4.73	3.77	0.43336	.	.	.	.	.	T	0.65144	0.2663	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.66504	-0.5907	5	0.54805	T	0.06	-6.341	10.9982	0.47589	0.0:0.8125:0.1875:0.0	.	.	.	.	K	591	.	ENSP00000412962:R591K	R	-	2	0	SYVN1	64652511	0.995000	0.38212	0.998000	0.56505	0.948000	0.59901	2.132000	0.42083	2.455000	0.83008	0.550000	0.68814	AGA		0.642	SYVN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000385274.1		NM_032431		16	29	0	0	0	1	0	16	29		
KCNK7	10089	broad.mit.edu	37	11	65360568	65360568	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:65360568C>T	ENST00000340313.4	-	3	1055	c.832G>A	c.(832-834)Gag>Aag	p.E278K	AP001362.1_ENST00000597463.1_5'Flank|KCNK7_ENST00000394217.2_3'UTR|KCNK7_ENST00000394216.2_3'UTR|KCNK7_ENST00000342202.4_3'UTR	NM_033347.1	NP_203133.1	Q9Y2U2	KCNK7_HUMAN	potassium channel, subfamily K, member 7	278					potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			endometrium(1)|liver(1)|lung(1)	3						CCTTGGTCCTCAGCAGTCACA	0.627																																						uc001oes.2		NaN																	0					0						c.(832-834)GAG>AAG		potassium channel, subfamily K, member 7 isoform							55.0	50.0	52.0					11																	65360568		2200	4296	6496	SO:0001583	missense	10089					integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr11:65360568C>T	AF110522	CCDS8106.1, CCDS31608.1, CCDS41673.1	11q13	2012-03-07			ENSG00000173338	ENSG00000173338		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6282	protein-coding gene	gene with protein product		603940				10206991, 11256078, 16382106	Standard	NM_033347		Approved	K2p7.1	uc001oes.3	Q9Y2U2	OTTHUMG00000166528	ENST00000340313.4:c.832G>A	11.37:g.65360568C>T	ENSP00000344820:p.Glu278Lys					KCNK7_uc001oeq.2_3'UTR|KCNK7_uc001oer.2_3'UTR|KCNK7_uc001oeu.2_3'UTR	p.E278K	NM_033347	NP_203133	Q9Y2U2	KCNK7_HUMAN			3	1056	-			278			Cytoplasmic (Potential).		Q3SYI2|Q9Y2U3|Q9Y2U4	Missense_Mutation	SNP	ENST00000340313.4	37	c.832G>A	CCDS31608.1	.	.	.	.	.	.	.	.	.	.	C	14.07	2.424336	0.43020	.	.	ENSG00000173338	ENST00000340313	T	0.11385	2.78	4.87	4.87	0.63330	.	0.000000	0.44483	D	0.000459	T	0.11452	0.0279	L	0.34521	1.04	0.29561	N	0.85061	P	0.40000	0.698	B	0.41036	0.346	T	0.03296	-1.1051	10	0.72032	D	0.01	.	13.4907	0.61393	0.0:1.0:0.0:0.0	.	278	Q9Y2U2	KCNK7_HUMAN	K	278	ENSP00000344820:E278K	ENSP00000344820:E278K	E	-	1	0	KCNK7	65117144	0.982000	0.34865	0.378000	0.26068	0.062000	0.15995	2.647000	0.46639	2.256000	0.74724	0.561000	0.74099	GAG		0.627	KCNK7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390206.1		NM_005714		4	16	0	0	0	1	0	4	16		
SPTBN2	6712	broad.mit.edu	37	11	66458983	66458983	+	Silent	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:66458983G>C	ENST00000533211.1	-	27	5668	c.5337C>G	c.(5335-5337)ctC>ctG	p.L1779L	SPTBN2_ENST00000309996.2_Silent_p.L1779L|SPTBN2_ENST00000529997.1_Silent_p.L1779L			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1779					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						AGGCCTCGTTGAGACTGTCCT	0.672																																						uc001ojd.2		NaN																	0				large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						c.(5335-5337)CTC>CTG		spectrin, beta, non-erythrocytic 2							54.0	42.0	46.0					11																	66458983		2199	4295	6494	SO:0001819	synonymous_variant	6712				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton	g.chr11:66458983G>C	AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"""Pleckstrin homology (PH) domain containing"""	11276	protein-coding gene	gene with protein product		604985	"""spinocerebellar ataxia 5"""	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.5337C>G	11.37:g.66458983G>C							p.L1779L	NM_006946	NP_008877	O15020	SPTN2_HUMAN			26	5409	-			1779			Spectrin 14.		O14872|O14873	Silent	SNP	ENST00000533211.1	37	c.5337C>G	CCDS8150.1																																																																																				0.672	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2		NM_006946		8	29	0	0	0	1	0	8	29		
SPTBN2	6712	broad.mit.edu	37	11	66460498	66460498	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:66460498G>C	ENST00000533211.1	-	25	5259	c.4928C>G	c.(4927-4929)aCc>aGc	p.T1643S	SPTBN2_ENST00000309996.2_Missense_Mutation_p.T1643S|SPTBN2_ENST00000529997.1_Missense_Mutation_p.T1643S			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1643					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CTGGTGGATGGTCTGCGCGTA	0.677																																						uc001ojd.2		NaN																	0				large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						c.(4927-4929)ACC>AGC		spectrin, beta, non-erythrocytic 2							80.0	80.0	80.0					11																	66460498		2200	4295	6495	SO:0001583	missense	6712				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton	g.chr11:66460498G>C	AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"""Pleckstrin homology (PH) domain containing"""	11276	protein-coding gene	gene with protein product		604985	"""spinocerebellar ataxia 5"""	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.4928C>G	11.37:g.66460498G>C	ENSP00000432568:p.Thr1643Ser						p.T1643S	NM_006946	NP_008877	O15020	SPTN2_HUMAN			24	5000	-			1643			Spectrin 13.		O14872|O14873	Missense_Mutation	SNP	ENST00000533211.1	37	c.4928C>G	CCDS8150.1	.	.	.	.	.	.	.	.	.	.	G	11.20	1.569563	0.28003	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997	T;T;T	0.48836	0.8;0.8;0.8	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.38825	0.1055	L	0.45051	1.395	0.41338	D	0.987288	P	0.38250	0.624	B	0.39339	0.297	T	0.12708	-1.0537	10	0.14252	T	0.57	.	11.7369	0.51769	0.0:0.0:0.8233:0.1767	.	1643	O15020	SPTN2_HUMAN	S	1643	ENSP00000432568:T1643S;ENSP00000311489:T1643S;ENSP00000433593:T1643S	ENSP00000311489:T1643S	T	-	2	0	SPTBN2	66217074	1.000000	0.71417	1.000000	0.80357	0.579000	0.36224	5.356000	0.66052	2.438000	0.82558	0.462000	0.41574	ACC		0.677	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2		NM_006946		31	80	0	0	0	1	0	31	80		
LRFN4	78999	broad.mit.edu	37	11	66625620	66625620	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:66625620C>T	ENST00000309602.4	+	1	648	c.405C>T	c.(403-405)atC>atT	p.I135I	PC_ENST00000393960.1_Intron|PC_ENST00000393958.2_Intron|LRFN4_ENST00000393952.3_Silent_p.I135I|PC_ENST00000393955.2_Intron	NM_024036.4	NP_076941.2	Q6PJG9	LRFN4_HUMAN	leucine rich repeat and fibronectin type III domain containing 4	135						integral component of membrane (GO:0016021)				breast(1)|lung(1)|prostate(1)	3						TGGGCCGCATCGCGCCGGGAG	0.682																																						uc001ojr.2		NaN																	0					0						c.(403-405)ATC>ATT		leucine rich repeat and fibronectin type III							47.0	53.0	51.0					11																	66625620		2200	4295	6495	SO:0001819	synonymous_variant	78999					integral to membrane		g.chr11:66625620C>T	BC007718	CCDS8153.1	11q13.1	2013-02-11				ENSG00000173621		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	28456	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 6"""	612810				16495444, 16828986	Standard	NM_024036		Approved	MGC3103, SALM3., FIGLER6	uc001ojr.3	Q6PJG9		ENST00000309602.4:c.405C>T	11.37:g.66625620C>T						PC_uc001ojo.1_Intron|PC_uc001ojp.1_Intron|PC_uc001ojn.1_Intron|LRFN4_uc001ojq.1_Silent_p.I135I|LRFN4_uc001ojs.2_Silent_p.I135I	p.I135I	NM_024036	NP_076941	Q6PJG9	LRFN4_HUMAN			1	745	+			135			LRR 4.|Extracellular (Potential).		Q4VBZ3|Q59GV4|Q8N644|Q9BWJ0	Silent	SNP	ENST00000309602.4	37	c.405C>T	CCDS8153.1																																																																																				0.682	LRFN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393127.1		NM_024036		61	17	0	0	0	1	0	61	17		
CORO1B	57175	broad.mit.edu	37	11	67207901	67207901	+	Missense_Mutation	SNP	C	C	G	rs149251927		TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:67207901C>G	ENST00000341356.5	-	7	876	c.766G>C	c.(766-768)Gag>Cag	p.E256Q	PTPRCAP_ENST00000326294.3_5'Flank|CORO1B_ENST00000393893.1_Missense_Mutation_p.E256Q|CORO1B_ENST00000539724.1_5'Flank	NM_020441.2	NP_065174.1	Q9BR76	COR1B_HUMAN	coronin, actin binding protein, 1B	256					actin cytoskeleton organization (GO:0030036)|actin filament branching (GO:0090135)|actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|endothelial cell chemotaxis (GO:0035767)|negative regulation of Arp2/3 complex-mediated actin nucleation (GO:0034316)|positive regulation of lamellipodium morphogenesis (GO:2000394)|protein localization to cell leading edge (GO:1902463)|ruffle organization (GO:0031529)|wound healing (GO:0042060)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)|Arp2/3 complex binding (GO:0071933)|identical protein binding (GO:0042802)	p.E256Q(1)		cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			ATGGGTTCCTCGAGGTTTTCC	0.622																																						uc001olj.1		NaN																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(766-768)GAG>CAG		coronin, actin binding protein, 1B							82.0	73.0	76.0					11																	67207901		2200	4295	6495	SO:0001583	missense	57175				actin cytoskeleton organization	actin cytoskeleton|cytoplasm	actin filament binding	g.chr11:67207901C>G	AK000860	CCDS8164.1	11q13.1	2013-01-10	2001-11-28		ENSG00000172725	ENSG00000172725		"""Coronins"", ""WD repeat domain containing"""	2253	protein-coding gene	gene with protein product		609849	"""coronin, actin-binding protein, 1B"""			9778037	Standard	NM_001018070		Approved	coronin-2	uc001olk.1	Q9BR76	OTTHUMG00000167775	ENST00000341356.5:c.766G>C	11.37:g.67207901C>G	ENSP00000340211:p.Glu256Gln					PTPRCAP_uc001oli.1_5'Flank|CORO1B_uc009yrs.1_RNA|CORO1B_uc001olk.1_Missense_Mutation_p.E256Q|CORO1B_uc009yrt.1_RNA|CORO1B_uc009yru.1_RNA|CORO1B_uc001oll.1_Missense_Mutation_p.E256Q	p.E256Q	NM_020441	NP_065174	Q9BR76	COR1B_HUMAN	BRCA - Breast invasive adenocarcinoma(15;3.26e-06)		6	802	-			256			WD 4.		B2RD45	Missense_Mutation	SNP	ENST00000341356.5	37	c.766G>C	CCDS8164.1	.	.	.	.	.	.	.	.	.	.	C	11.13	1.548721	0.27652	.	.	ENSG00000172725	ENST00000393893;ENST00000341356	T;T	0.01335	5.0;5.0	4.49	1.48	0.22813	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.601209	0.14959	N	0.288458	T	0.01765	0.0056	L	0.45581	1.43	0.27396	N	0.955004	B	0.11235	0.004	B	0.11329	0.006	T	0.38693	-0.9649	10	0.32370	T	0.25	-13.3613	9.4688	0.38829	0.0:0.6537:0.2702:0.0761	.	256	Q9BR76	COR1B_HUMAN	Q	256	ENSP00000377471:E256Q;ENSP00000340211:E256Q	ENSP00000340211:E256Q	E	-	1	0	CORO1B	66964477	0.689000	0.27690	0.247000	0.24249	0.910000	0.53928	3.047000	0.49854	0.217000	0.20800	0.591000	0.81541	GAG		0.622	CORO1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396220.1		NM_020441		8	20	0	0	0	1	0	8	20		
ARAP1	116985	broad.mit.edu	37	11	72412771	72412771	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:72412771G>A	ENST00000393609.3	-	16	2427	c.2225C>T	c.(2224-2226)cCg>cTg	p.P742L	ARAP1-AS2_ENST00000500163.2_RNA|ARAP1_ENST00000426523.1_Missense_Mutation_p.P497L|ARAP1_ENST00000429686.1_Missense_Mutation_p.P436L|ARAP1_ENST00000359373.5_Missense_Mutation_p.P742L|ARAP1_ENST00000455638.2_Missense_Mutation_p.P742L|ARAP1_ENST00000495878.1_5'Flank|ARAP1_ENST00000334211.8_Missense_Mutation_p.P497L|ARAP1_ENST00000393605.3_Missense_Mutation_p.P502L	NM_001040118.2	NP_001035207.1	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	742					actin filament reorganization involved in cell cycle (GO:0030037)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of receptor recycling (GO:0001921)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of cellular component movement (GO:0051270)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						GCTCACGGTCGGCAGGACAAC	0.632																																					Ovarian(102;1198 1520 13195 17913 37529)	uc001osu.2		NaN																	0				skin(1)	1						c.(2224-2226)CCG>CTG		ArfGAP with RhoGAP domain, ankyrin repeat and PH							206.0	206.0	206.0					11																	72412771		2200	4293	6493	SO:0001583	missense	116985				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding	g.chr11:72412771G>A	AF411983	CCDS8217.2, CCDS41687.1, CCDS44671.1	11q13.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000186635	ENSG00000186635		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16925	protein-coding gene	gene with protein product		606646	"""centaurin, delta 2"""	CENTD2			Standard	NM_001040118		Approved		uc001osu.3	Q96P48	OTTHUMG00000157102	ENST00000393609.3:c.2225C>T	11.37:g.72412771G>A	ENSP00000377233:p.Pro742Leu					ARAP1_uc001osv.2_Missense_Mutation_p.P742L|ARAP1_uc001osr.2_Missense_Mutation_p.P502L|ARAP1_uc001oss.2_Missense_Mutation_p.P497L|ARAP1_uc009yth.2_Missense_Mutation_p.P436L|ARAP1_uc010rre.1_Missense_Mutation_p.P497L|ARAP1_uc001osw.1_Missense_Mutation_p.P30L	p.P742L	NM_001040118	NP_001035207	Q96P48	ARAP1_HUMAN			16	2414	-			742					A3KLL7|B2RTS2|O94879|Q4LDD5|Q59FI7|Q6PHS3|Q8WU51|Q96HP6|Q96L71	Missense_Mutation	SNP	ENST00000393609.3	37	c.2225C>T	CCDS41687.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.217165	0.79352	.	.	ENSG00000186635	ENST00000359373;ENST00000455638;ENST00000393605;ENST00000334211;ENST00000393609;ENST00000426523;ENST00000429686;ENST00000427971;ENST00000452383;ENST00000340247	T;T;T;T;T;T;T;T;T	0.12672	2.66;2.66;2.66;2.66;2.66;2.66;2.66;2.66;2.66	5.57	5.57	0.84162	.	0.134780	0.49916	D	0.000124	T	0.30510	0.0767	L	0.40543	1.245	0.58432	D	0.999999	P;D;D;P;P	0.89917	0.627;1.0;1.0;0.627;0.744	B;D;D;B;B	0.91635	0.126;0.998;0.999;0.193;0.248	T	0.00473	-1.1718	10	0.41790	T	0.15	.	18.121	0.89571	0.0:0.0:1.0:0.0	.	497;436;742;742;502	E7EU13;B2RTS2;Q96P48-3;Q96P48;Q96P48-1	.;.;.;ARAP1_HUMAN;.	L	742;742;502;497;742;497;436;30;30;531	ENSP00000352332:P742L;ENSP00000390461:P742L;ENSP00000377230:P502L;ENSP00000335506:P497L;ENSP00000377233:P742L;ENSP00000392264:P497L;ENSP00000403127:P436L;ENSP00000411452:P30L;ENSP00000399118:P30L	ENSP00000335506:P497L	P	-	2	0	ARAP1	72090419	1.000000	0.71417	0.994000	0.49952	0.927000	0.56198	8.359000	0.90093	2.615000	0.88500	0.557000	0.71058	CCG		0.632	ARAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347428.1		NM_001040118		68	187	0	0	0	1	0	68	187		
RNF169	254225	broad.mit.edu	37	11	74547165	74547165	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:74547165C>G	ENST00000299563.4	+	6	1530	c.1517C>G	c.(1516-1518)tCt>tGt	p.S506C		NM_001098638.1	NP_001092108.1	Q8NCN4	RN169_HUMAN	ring finger protein 169	506					cellular response to DNA damage stimulus (GO:0006974)|negative regulation of double-strand break repair (GO:2000780)|protein ubiquitination (GO:0016567)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|site of double-strand break (GO:0035861)	K63-linked polyubiquitin binding (GO:0070530)|ligase activity (GO:0016874)|nucleosome binding (GO:0031491)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	15						CATTTCCCCTCTGTTAGCCAA	0.473																																						uc001ovl.3		NaN																	0				ovary(1)	1						c.(1516-1518)TCT>TGT		ring finger protein 169							146.0	146.0	146.0					11																	74547165		1897	4100	5997	SO:0001583	missense	254225						zinc ion binding	g.chr11:74547165C>G	AB082522	CCDS41691.1	11q13.4	2008-02-05			ENSG00000166439	ENSG00000166439		"""RING-type (C3HC4) zinc fingers"""	26961	protein-coding gene	gene with protein product						12056414	Standard	NM_001098638		Approved	KIAA1991	uc001ovl.4	Q8NCN4	OTTHUMG00000165516	ENST00000299563.4:c.1517C>G	11.37:g.74547165C>G	ENSP00000299563:p.Ser506Cys					XRRA1_uc001ovm.2_Intron	p.S506C	NM_001098638	NP_001092108	Q8NCN4	RN169_HUMAN			6	1530	+			506					Q6N015	Missense_Mutation	SNP	ENST00000299563.4	37	c.1517C>G	CCDS41691.1	.	.	.	.	.	.	.	.	.	.	C	10.14	1.269381	0.23221	.	.	ENSG00000166439	ENST00000299563	T	0.57107	0.42	5.79	3.91	0.45181	.	0.355832	0.29486	N	0.012018	T	0.52008	0.1708	M	0.75447	2.3	0.27402	N	0.954828	B	0.19583	0.037	B	0.16722	0.016	T	0.51841	-0.8654	10	0.56958	D	0.05	-6.1342	10.8223	0.46612	0.1468:0.712:0.1412:0.0	.	506	Q8NCN4	RN169_HUMAN	C	506	ENSP00000299563:S506C	ENSP00000299563:S506C	S	+	2	0	RNF169	74224813	0.152000	0.22762	0.249000	0.24280	0.922000	0.55478	2.471000	0.45127	0.778000	0.33520	0.655000	0.94253	TCT		0.473	RNF169-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384741.1		XM_495886		50	122	0	0	0	1	0	50	122		
GRM5	2915	broad.mit.edu	37	11	88241803	88241803	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:88241803G>A	ENST00000305447.4	-	9	3745	c.3596C>T	c.(3595-3597)aCt>aTt	p.T1199I	GRM5_ENST00000418177.2_Missense_Mutation_p.T1199I|GRM5_ENST00000305432.5_Missense_Mutation_p.T1167I|GRM5-AS1_ENST00000526448.1_RNA|GRM5_ENST00000393297.1_Missense_Mutation_p.T929I|GRM5_ENST00000455756.2_Missense_Mutation_p.T1167I	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	1199					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	TATGATAAGAGTGTCATATTT	0.602																																						uc001pcq.2		NaN																	0				central_nervous_system(4)|ovary(2)|lung(2)|breast(1)	9						c.(3595-3597)ACT>ATT		glutamate receptor, metabotropic 5 isoform a	Acamprosate(DB00659)						28.0	30.0	30.0					11																	88241803		2200	4299	6499	SO:0001583	missense	2915				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr11:88241803G>A	D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4597	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 86"""	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.3596C>T	11.37:g.88241803G>A	ENSP00000306138:p.Thr1199Ile					GRM5_uc009yvm.2_Missense_Mutation_p.T1167I	p.T1199I	NM_001143831	NP_001137303	P41594	GRM5_HUMAN			9	3796	-		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)	1199			Cytoplasmic (Potential).		Q6J164	Missense_Mutation	SNP	ENST00000305447.4	37	c.3596C>T	CCDS44694.1	.	.	.	.	.	.	.	.	.	.	G	13.42	2.231348	0.39399	.	.	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447;ENST00000393297	D;D;D;D;D	0.88354	-2.32;-2.33;-2.33;-2.32;-2.37	4.92	4.92	0.64577	Metabotropic glutamate receptor, Homer-binding domain (1);	0.413616	0.25332	N	0.031424	D	0.82472	0.5044	N	0.22421	0.69	0.22112	N	0.999354	P;P	0.36282	0.546;0.523	B;B	0.39617	0.15;0.305	T	0.73649	-0.3916	9	.	.	.	.	13.1387	0.59423	0.0:0.0:0.84:0.16	.	1167;1199	P41594-2;P41594	.;GRM5_HUMAN	I	1199;1167;1167;1199;929	ENSP00000402912:T1199I;ENSP00000405690:T1167I;ENSP00000305905:T1167I;ENSP00000306138:T1199I;ENSP00000376975:T929I	.	T	-	2	0	GRM5	87881451	0.989000	0.36119	0.964000	0.40570	0.996000	0.88848	2.588000	0.46137	2.252000	0.74401	0.557000	0.71058	ACT		0.602	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1		NM_000842		8	18	0	0	0	1	0	8	18		
NOX4	50507	broad.mit.edu	37	11	89133452	89133452	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:89133452G>A	ENST00000263317.4	-	10	1180	c.942C>T	c.(940-942)gtC>gtT	p.V314V	NOX4_ENST00000532825.1_Silent_p.V290V|NOX4_ENST00000542487.1_Silent_p.V290V|NOX4_ENST00000531342.1_Intron|NOX4_ENST00000343727.5_Silent_p.V290V|NOX4_ENST00000527626.1_Silent_p.V148V|NOX4_ENST00000424319.1_Silent_p.V290V|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000528341.1_Silent_p.V289V|NOX4_ENST00000413594.2_Silent_p.V335V|NOX4_ENST00000527956.1_Silent_p.V290V|NOX4_ENST00000534731.1_Silent_p.V314V|NOX4_ENST00000535633.1_Silent_p.V290V|NOX4_ENST00000375979.3_Intron			Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	314	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.|Mediates interaction with TLR4.				bone resorption (GO:0045453)|cardiac muscle cell differentiation (GO:0055007)|cell aging (GO:0007569)|cell morphogenesis (GO:0000902)|cellular response to cAMP (GO:0071320)|cellular response to gamma radiation (GO:0071480)|cellular response to glucose stimulus (GO:0071333)|cellular response to transforming growth factor beta stimulus (GO:0071560)|homocysteine metabolic process (GO:0050667)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)|superoxide anion generation (GO:0042554)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|modified amino acid binding (GO:0072341)|NAD(P)H oxidase activity (GO:0016174)|nucleotide binding (GO:0000166)|oxygen sensor activity (GO:0019826)|superoxide-generating NADPH oxidase activity (GO:0016175)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				GATGACTCATGACCGAAATGA	0.433																																						uc001pct.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(940-942)GTC>GTT		NADPH oxidase 4 isoform a							84.0	80.0	81.0					11																	89133452		2201	4299	6500	SO:0001819	synonymous_variant	50507				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity	g.chr11:89133452G>A	AF254621	CCDS8285.1, CCDS44695.1, CCDS44696.1, CCDS73361.1, CCDS73362.1	11q14.2-q21	2008-02-05			ENSG00000086991	ENSG00000086991			7891	protein-coding gene	gene with protein product		605261					Standard	NM_001143837		Approved	KOX-1, KOX	uc001pct.3	Q9NPH5	OTTHUMG00000167298	ENST00000263317.4:c.942C>T	11.37:g.89133452G>A						NOX4_uc009yvr.2_Silent_p.V289V|NOX4_uc001pcu.2_Silent_p.V240V|NOX4_uc001pcw.2_Intron|NOX4_uc001pcx.2_Intron|NOX4_uc001pcv.2_Silent_p.V314V|NOX4_uc009yvo.2_Intron|NOX4_uc010rtu.1_Silent_p.V148V|NOX4_uc009yvp.2_Intron|NOX4_uc010rtv.1_Silent_p.V290V|NOX4_uc009yvq.2_Silent_p.V290V	p.V314V	NM_016931	NP_058627	Q9NPH5	NOX4_HUMAN			10	1181	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)	314			FAD-binding FR-type.|Extracellular (Potential).|Mediates interaction with TLR4.		A8K715|B7Z520|E7EMD7|Q5K3R4|Q5K3R5|Q5K3R6|Q5K3R8|Q7Z7G3|Q86V92	Silent	SNP	ENST00000263317.4	37	c.942C>T	CCDS8285.1																																																																																				0.433	NOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394054.1		NM_016931		12	54	0	0	0	1	0	12	54		
GRIA4	2893	broad.mit.edu	37	11	105775959	105775959	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:105775959G>C	ENST00000530497.1	+	8	1090	c.1090G>C	c.(1090-1092)Gac>Cac	p.D364H	GRIA4_ENST00000393127.2_Missense_Mutation_p.D364H|GRIA4_ENST00000525187.1_Missense_Mutation_p.D364H|GRIA4_ENST00000428631.2_Missense_Mutation_p.D364H|GRIA4_ENST00000282499.5_Missense_Mutation_p.D364H|GRIA4_ENST00000393125.2_Missense_Mutation_p.D364H			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	364					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		TGTTCAGTTTGACCACTATGG	0.393																																						uc001pix.2		NaN																	0				ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8						c.(1090-1092)GAC>CAC		glutamate receptor, ionotrophic, AMPA 4 isoform	L-Glutamic Acid(DB00142)						141.0	132.0	135.0					11																	105775959		2202	4299	6501	SO:0001583	missense	2893				glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chr11:105775959G>C	U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4574	protein-coding gene	gene with protein product		138246	"""glutamate receptor, ionotrophic, AMPA 4"""	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.1090G>C	11.37:g.105775959G>C	ENSP00000435775:p.Asp364His					GRIA4_uc001piu.1_Missense_Mutation_p.D364H|GRIA4_uc001piw.2_Missense_Mutation_p.D364H|GRIA4_uc009yxk.1_Missense_Mutation_p.D364H	p.D364H	NM_000829	NP_000820	P48058	GRIA4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	9	1536	+		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)	364			Extracellular (Potential).		Q86XE8	Missense_Mutation	SNP	ENST00000530497.1	37	c.1090G>C	CCDS8333.1	.	.	.	.	.	.	.	.	.	.	g	31	5.069546	0.93950	.	.	ENSG00000152578	ENST00000393125;ENST00000282499;ENST00000393127;ENST00000428631;ENST00000530497;ENST00000525187	T;T;T;T;T;T	0.36878	1.23;1.23;1.23;1.23;1.23;1.23	5.75	5.75	0.90469	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	T	0.61788	0.2375	M	0.68317	2.08	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.79784	0.956;0.972;0.993	T	0.61676	-0.7014	10	0.87932	D	0	.	20.3281	0.98708	0.0:0.0:1.0:0.0	.	364;364;364	P48058;G3V164;Q86XE8	GRIA4_HUMAN;.;.	H	364	ENSP00000376833:D364H;ENSP00000282499:D364H;ENSP00000376835:D364H;ENSP00000415551:D364H;ENSP00000435775:D364H;ENSP00000432180:D364H	ENSP00000282499:D364H	D	+	1	0	GRIA4	105281169	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.378000	0.97191	2.877000	0.98614	0.645000	0.84053	GAC		0.393	GRIA4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388593.1				20	89	0	0	0	1	0	20	89		
NPAT	4863	broad.mit.edu	37	11	108032032	108032032	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:108032032C>T	ENST00000278612.8	-	17	3886	c.3781G>A	c.(3781-3783)Gat>Aat	p.D1261N		NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	1261					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|Gemini of coiled bodies (GO:0097504)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		TCACTACTATCAGCAAGCCTA	0.448																																						uc001pjz.3		NaN																	0				ovary(2)	2						c.(3781-3783)GAT>AAT		nuclear protein,  ataxia-telangiectasia locus							115.0	114.0	114.0					11																	108032032		1855	4094	5949	SO:0001583	missense	4863				positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	g.chr11:108032032C>T	X97186	CCDS41710.1	11q22-q23	2008-02-01			ENSG00000149308	ENSG00000149308			7896	protein-coding gene	gene with protein product		601448				9205109	Standard	NM_002519		Approved	E14	uc001pjz.4	Q14207	OTTHUMG00000166385	ENST00000278612.8:c.3781G>A	11.37:g.108032032C>T	ENSP00000278612:p.Asp1261Asn					NPAT_uc010rvv.1_Missense_Mutation_p.D317N	p.D1261N	NM_002519	NP_002510	Q14207	NPAT_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)	17	3883	-		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	1261					A8K1V5|A8K6M2|Q13632|Q14967|Q16580|Q86W55|Q8IWE9	Missense_Mutation	SNP	ENST00000278612.8	37	c.3781G>A	CCDS41710.1	.	.	.	.	.	.	.	.	.	.	C	1.606	-0.525239	0.04141	.	.	ENSG00000149308	ENST00000278612	T	0.04275	3.66	4.74	3.83	0.44106	.	0.741520	0.13086	N	0.414918	T	0.06096	0.0158	L	0.51422	1.61	0.09310	N	1	P	0.35272	0.493	B	0.33620	0.167	T	0.21177	-1.0253	10	0.40728	T	0.16	-8.7063	10.1649	0.42875	0.0:0.8444:0.0:0.1556	.	1261	Q14207	NPAT_HUMAN	N	1261	ENSP00000278612:D1261N	ENSP00000278612:D1261N	D	-	1	0	NPAT	107537242	0.613000	0.27009	0.065000	0.19835	0.003000	0.03518	3.180000	0.50895	2.628000	0.89032	0.650000	0.86243	GAT		0.448	NPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389506.2		NM_002519		89	85	0	0	0	1	0	89	85		
EXPH5	23086	broad.mit.edu	37	11	108384109	108384109	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:108384109C>T	ENST00000265843.4	-	6	2235	c.2125G>A	c.(2125-2127)Gaa>Aaa	p.E709K	EXPH5_ENST00000443411.1_Missense_Mutation_p.E521K|EXPH5_ENST00000524840.1_5'Flank|EXPH5_ENST00000428840.1_Missense_Mutation_p.E633K|EXPH5_ENST00000525344.1_Missense_Mutation_p.E702K	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	709					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TTGTCTTCTTCTGAAATAGAT	0.413																																						uc001pkk.2		NaN																	0				skin(3)|ovary(2)	5						c.(2125-2127)GAA>AAA		exophilin 5 isoform a							94.0	100.0	98.0					11																	108384109		2201	4298	6499	SO:0001583	missense	23086				intracellular protein transport		Rab GTPase binding	g.chr11:108384109C>T		CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"""synaptotagmin-like homologue lacking C2 domains b"""	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.2125G>A	11.37:g.108384109C>T	ENSP00000265843:p.Glu709Lys					EXPH5_uc010rvy.1_Missense_Mutation_p.E521K|EXPH5_uc010rvz.1_Missense_Mutation_p.E553K|EXPH5_uc010rwa.1_Missense_Mutation_p.E633K	p.E709K	NM_015065	NP_055880	Q8NEV8	EXPH5_HUMAN		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)	6	2236	-		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)	709					Q2KHM1|Q9Y4D6	Missense_Mutation	SNP	ENST00000265843.4	37	c.2125G>A	CCDS8341.1	.	.	.	.	.	.	.	.	.	.	c	14.35	2.510541	0.44660	.	.	ENSG00000110723	ENST00000265843;ENST00000428840;ENST00000443411;ENST00000525344;ENST00000526312;ENST00000533052	T;T;T;T;T;T	0.05925	3.93;3.86;3.71;3.93;3.76;3.37	6.04	2.11	0.27256	.	0.173458	0.41001	N	0.000973	T	0.05593	0.0147	L	0.36672	1.1	0.09310	N	0.999992	B	0.14805	0.011	B	0.19946	0.027	T	0.32929	-0.9888	10	0.52906	T	0.07	-13.6518	6.822	0.23862	0.0:0.6651:0.1256:0.2092	.	709	Q8NEV8	EXPH5_HUMAN	K	709;633;521;702;633;521	ENSP00000265843:E709K;ENSP00000391966:E633K;ENSP00000411390:E521K;ENSP00000432546:E702K;ENSP00000432683:E633K;ENSP00000446434:E521K	ENSP00000265843:E709K	E	-	1	0	EXPH5	107889319	0.132000	0.22450	0.138000	0.22173	0.878000	0.50629	0.367000	0.20382	0.146000	0.19002	-0.981000	0.02577	GAA		0.413	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1		NM_015065		22	54	0	0	0	1	0	22	54		
DRD2	1813	broad.mit.edu	37	11	113286260	113286260	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:113286260G>A	ENST00000362072.3	-	5	950	c.606C>T	c.(604-606)ttC>ttT	p.F202F	DRD2_ENST00000544518.1_Silent_p.F201F|DRD2_ENST00000346454.3_Silent_p.F202F|DRD2_ENST00000535984.1_5'UTR|DRD2_ENST00000542968.1_Silent_p.F202F|DRD2_ENST00000538967.1_Silent_p.F202F|DRD2_ENST00000355319.2_Silent_p.F202F	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	202					activation of protein kinase activity (GO:0032147)|adenohypophysis development (GO:0021984)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adult walking behavior (GO:0007628)|arachidonic acid secretion (GO:0050482)|associative learning (GO:0008306)|auditory behavior (GO:0031223)|axonogenesis (GO:0007409)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|branching morphogenesis of a nerve (GO:0048755)|cellular calcium ion homeostasis (GO:0006874)|cerebral cortex GABAergic interneuron migration (GO:0021853)|circadian regulation of gene expression (GO:0032922)|dopamine metabolic process (GO:0042417)|feeding behavior (GO:0007631)|G-protein coupled receptor internalization (GO:0002031)|grooming behavior (GO:0007625)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|long-term memory (GO:0007616)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of circadian sleep/wake cycle, sleep (GO:0042321)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of insulin secretion (GO:0046676)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein secretion (GO:0050709)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|neuron-neuron synaptic transmission (GO:0007270)|orbitofrontal cortex development (GO:0021769)|peristalsis (GO:0030432)|phosphatidylinositol metabolic process (GO:0046488)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|pigmentation (GO:0043473)|positive regulation of cytokinesis (GO:0032467)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of dopamine uptake involved in synaptic transmission (GO:0051586)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of receptor internalization (GO:0002092)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of urine volume (GO:0035810)|prepulse inhibition (GO:0060134)|protein localization (GO:0008104)|regulation of cAMP metabolic process (GO:0030814)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of heart rate (GO:0002027)|regulation of locomotion involved in locomotory behavior (GO:0090325)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of potassium ion transport (GO:0043266)|regulation of sodium ion transport (GO:0002028)|regulation of synapse structural plasticity (GO:0051823)|regulation of synaptic transmission, GABAergic (GO:0032228)|release of sequestered calcium ion into cytosol (GO:0051209)|response to amphetamine (GO:0001975)|response to axon injury (GO:0048678)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to histamine (GO:0034776)|response to hypoxia (GO:0001666)|response to inactivity (GO:0014854)|response to iron ion (GO:0010039)|response to light stimulus (GO:0009416)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to toxic substance (GO:0009636)|sensory perception of smell (GO:0007608)|striatum development (GO:0021756)|synapse assembly (GO:0007416)|synaptic transmission, dopaminergic (GO:0001963)|temperature homeostasis (GO:0001659)|visual learning (GO:0008542)|Wnt signaling pathway (GO:0016055)	acrosomal vesicle (GO:0001669)|axon (GO:0030424)|axon terminus (GO:0043679)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|sperm flagellum (GO:0036126)|synaptic vesicle membrane (GO:0030672)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)|identical protein binding (GO:0042802)|potassium channel regulator activity (GO:0015459)			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acepromazine(DB01614)|Acetophenazine(DB01063)|Alizapride(DB01425)|Amantadine(DB00915)|Amisulpride(DB06288)|Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Desipramine(DB01151)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Droperidol(DB00450)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Memantine(DB01043)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Metoclopramide(DB01233)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sertindole(DB06144)|Sulpiride(DB00391)|Tetrabenazine(DB04844)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	GGGTGACAATGAAGGGCACGT	0.597																																						uc001pnz.2		NaN																	0				pancreas(1)|skin(1)	2						c.(604-606)TTC>TTT		dopamine receptor D2 isoform long	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)						187.0	149.0	162.0					11																	113286260		2201	4296	6497	SO:0001819	synonymous_variant	1813				activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding	g.chr11:113286260G>A	M29066	CCDS8361.1, CCDS8362.1	11q22-q23	2012-08-08						"""GPCR / Class A : Dopamine receptors"""	3023	protein-coding gene	gene with protein product		126450					Standard	NM_000795		Approved		uc001poa.4	P14416		ENST00000362072.3:c.606C>T	11.37:g.113286260G>A						DRD2_uc010rwv.1_Silent_p.F201F|DRD2_uc001poa.3_Silent_p.F202F|DRD2_uc001pob.3_Silent_p.F202F|DRD2_uc009yyr.1_Silent_p.F202F	p.F202F	NM_000795	NP_000786	P14416	DRD2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	4	927	-		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)	202			Helical; Name=5; (By similarity).		Q9NZR3|Q9UPA9	Silent	SNP	ENST00000362072.3	37	c.606C>T	CCDS8361.1																																																																																				0.597	DRD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395834.1		NM_000795		27	43	0	0	0	1	0	27	43		
DSCAML1	57453	broad.mit.edu	37	11	117332172	117332172	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:117332172C>T	ENST00000321322.6	-	18	3587	c.3586G>A	c.(3586-3588)Gat>Aat	p.D1196N	DSCAML1_ENST00000527706.1_Missense_Mutation_p.D926N	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1136	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TCACCCCCATCAACATAGAGG	0.602																																						uc001prh.1		NaN																	0				ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8						c.(3586-3588)GAT>AAT		Down syndrome cell adhesion molecule like 1							74.0	73.0	73.0					11																	117332172		2201	4296	6497	SO:0001583	missense	57453				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117332172C>T		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.3586G>A	11.37:g.117332172C>T	ENSP00000315465:p.Asp1196Asn						p.D1196N	NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	18	3588	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	1136			Fibronectin type-III 3.|Extracellular (Potential).		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	c.3586G>A	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	C	15.77	2.930112	0.52759	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.54866	0.55;0.55	4.9	4.9	0.64082	Fibronectin, type III (4);Immunoglobulin-like fold (1);	.	.	.	.	T	0.50854	0.1640	L	0.46670	1.46	0.80722	D	1	B	0.23540	0.087	B	0.33799	0.17	T	0.43212	-0.9405	9	0.15499	T	0.54	.	18.2786	0.90091	0.0:1.0:0.0:0.0	.	1136	Q8TD84	DSCL1_HUMAN	N	926;1196;903	ENSP00000434335:D926N;ENSP00000315465:D1196N	ENSP00000315465:D1196N	D	-	1	0	DSCAML1	116837382	1.000000	0.71417	0.821000	0.32701	0.709000	0.40893	5.909000	0.69923	2.547000	0.85894	0.655000	0.94253	GAT		0.602	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2		NM_020693		27	44	0	0	0	1	0	27	44		
AMICA1	120425	broad.mit.edu	37	11	118071280	118071280	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:118071280G>T	ENST00000356289.5	-	7	993	c.820C>A	c.(820-822)Cag>Aag	p.Q274K	AMICA1_ENST00000533261.1_Missense_Mutation_p.Q263K|AMICA1_ENST00000292067.7_Missense_Mutation_p.Q264K|AMICA1_ENST00000526620.1_Missense_Mutation_p.Q235K	NM_001098526.1	NP_001091996.1	Q86YT9	JAML1_HUMAN	adhesion molecule, interacts with CXADR antigen 1	274					blood coagulation (GO:0007596)|gamma-delta T cell activation (GO:0046629)|heterophilic cell-cell adhesion (GO:0007157)|leukocyte migration (GO:0050900)|monocyte extravasation (GO:0035696)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2)	20	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		ATCACCAACTGATTACCACCC	0.502																																						uc001psk.2		NaN																	0				ovary(1)	1						c.(820-822)CAG>AAG		adhesion molecule, interacts with CXADR antigen							103.0	98.0	100.0					11																	118071280		2200	4296	6496	SO:0001583	missense	120425				blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	cell junction|integral to membrane		g.chr11:118071280G>T	AY138965, AY358362	CCDS8391.1, CCDS41723.1, CCDS66240.1	11q23.3	2013-01-11				ENSG00000160593		"""Immunoglobulin superfamily / V-set domain containing"""	19084	protein-coding gene	gene with protein product		609770				12975309	Standard	NM_001098526		Approved	Gm638, AMICA	uc001psk.2	Q86YT9		ENST00000356289.5:c.820C>A	11.37:g.118071280G>T	ENSP00000348635:p.Gln274Lys					AMICA1_uc001psg.2_Missense_Mutation_p.Q84K|AMICA1_uc001psh.2_Missense_Mutation_p.Q235K|AMICA1_uc009yzw.1_RNA|AMICA1_uc001psi.2_Missense_Mutation_p.Q264K|AMICA1_uc001psj.2_Missense_Mutation_p.Q263K|AMICA1_uc010rxw.1_Missense_Mutation_p.Q235K|AMICA1_uc010rxx.1_Missense_Mutation_p.Q274K|AMICA1_uc001psl.1_Missense_Mutation_p.Q230K	p.Q274K	NM_001098526	NP_001091996	Q86YT9	JAML1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)	7	994	-	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	274			Extracellular (Potential).		B0YIV1|B0YIV2|Q496M1|Q5DTC6|Q7Z499|Q8N9I7|Q8NF70	Missense_Mutation	SNP	ENST00000356289.5	37	c.820C>A	CCDS41723.1	.	.	.	.	.	.	.	.	.	.	G	11.98	1.801039	0.31869	.	.	ENSG00000160593	ENST00000356289;ENST00000292067;ENST00000533261;ENST00000526620	D;D;D;D	0.98249	-4.26;-4.26;-4.3;-4.82	5.12	4.2	0.49525	.	0.492266	0.17414	N	0.175085	D	0.95981	0.8691	L	0.32530	0.975	0.28041	N	0.933753	P;P;P;P;P	0.44139	0.734;0.816;0.734;0.734;0.827	B;B;B;B;P	0.46543	0.321;0.357;0.257;0.257;0.52	D	0.90909	0.4774	10	0.13853	T	0.58	-6.2062	11.6162	0.51092	0.0:0.1799:0.8201:0.0	.	274;235;274;263;264	B4DVI6;E9PKK2;Q86YT9;E9PR26;Q86YT9-2	.;.;JAML1_HUMAN;.;.	K	274;264;263;235	ENSP00000348635:Q274K;ENSP00000292067:Q264K;ENSP00000436117:Q263K;ENSP00000431218:Q235K	ENSP00000292067:Q264K	Q	-	1	0	AMICA1	117576490	0.901000	0.30685	0.309000	0.25155	0.041000	0.13682	2.113000	0.41902	1.123000	0.41961	-0.305000	0.09177	CAG		0.502	AMICA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392105.2		NM_153206		26	41	1	0	4.87955e-14	1	5.32458e-14	26	41		
KMT2A	4297	broad.mit.edu	37	11	118363895	118363895	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:118363895G>A	ENST00000389506.5	+	16	5119	c.5119G>A	c.(5119-5121)Gat>Aat	p.D1707N	KMT2A_ENST00000354520.4_Missense_Mutation_p.D1669N|KMT2A_ENST00000534358.1_Missense_Mutation_p.D1710N			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	1707	Bromo; divergent. {ECO:0000255|PROSITE- ProRule:PRU00035}.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										GCAGCCTTTAGATCTAGAAGG	0.478																																						uc001pta.2		NaN								T|O					MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB		AML|ALL		0				lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25						c.(5119-5121)GAT>AAT		myeloid/lymphoid or mixed-lineage leukemia							119.0	109.0	112.0					11																	118363895		2200	4296	6496	SO:0001583	missense	4297				apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding	g.chr11:118363895G>A	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.5119G>A	11.37:g.118363895G>A	ENSP00000374157:p.Asp1707Asn					MLL_uc001ptb.2_Missense_Mutation_p.D1710N	p.D1707N	NM_005933	NP_005924	Q03164	MLL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)	16	5142	+	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)	1707			Bromo; divergent.		E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	37	c.5119G>A	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.279193	0.80692	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	T;T;T	0.58652	0.32;0.32;0.32	5.28	5.28	0.74379	Bromodomain (4);	0.000000	0.85682	D	0.000000	T	0.66287	0.2774	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.83275	0.983;0.996	T	0.70710	-0.4797	10	0.66056	D	0.02	.	18.9088	0.92474	0.0:0.0:1.0:0.0	.	1710;1707	E9PQG7;Q03164	.;MLL1_HUMAN	N	1710;1707;1669;617	ENSP00000436786:D1710N;ENSP00000374157:D1707N;ENSP00000346516:D1669N	ENSP00000346516:D1669N	D	+	1	0	MLL	117869105	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.320000	0.96346	2.449000	0.82847	0.561000	0.74099	GAT		0.478	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2		NM_005933		16	96	0	0	0	1	0	16	96		
HYOU1	10525	broad.mit.edu	37	11	118923444	118923444	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:118923444C>G	ENST00000404233.3	-	9	1016	c.892G>C	c.(892-894)Gat>Cat	p.D298H	HYOU1_ENST00000529972.1_Missense_Mutation_p.D298H|HYOU1_ENST00000543287.1_Missense_Mutation_p.D211H|HYOU1_ENST00000525859.1_Missense_Mutation_p.D298H	NM_001130991.1|NM_006389.3	NP_001124463.1|NP_006380.1	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1	298					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|response to ischemia (GO:0002931)|response to stress (GO:0006950)	endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		TCCCGCACATCCTTTGCTCTC	0.612																																						uc001puu.2		NaN																	0					0						c.(892-894)GAT>CAT		hypoxia up-regulated 1 precursor							74.0	67.0	69.0					11																	118923444		2200	4295	6495	SO:0001583	missense	10525					endoplasmic reticulum lumen	ATP binding|protein binding	g.chr11:118923444C>G	U65785	CCDS8408.1	11q23.1-q23.3	2011-09-02			ENSG00000149428	ENSG00000149428		"""Heat shock proteins / HSP70"""	16931	protein-coding gene	gene with protein product	"""glucose-regulated protein 170"""	601746				9020069, 10037731	Standard	XM_005271390		Approved	ORP150, HSP12A, Grp170	uc001pux.3	Q9Y4L1	OTTHUMG00000166354	ENST00000404233.3:c.892G>C	11.37:g.118923444C>G	ENSP00000384144:p.Asp298His					HYOU1_uc001put.2_Missense_Mutation_p.D263H|HYOU1_uc010ryu.1_Missense_Mutation_p.D318H|HYOU1_uc010ryv.1_Missense_Mutation_p.D187H|HYOU1_uc001pux.3_Missense_Mutation_p.D298H|HYOU1_uc010ryw.1_RNA|HYOU1_uc001puw.1_Missense_Mutation_p.D298H	p.D298H	NM_006389	NP_006380	Q9Y4L1	HYOU1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)	9	1085	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)	298					A8C1Z0|B7Z909|Q2I204|Q53H25	Missense_Mutation	SNP	ENST00000404233.3	37	c.892G>C	CCDS8408.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.882415	0.91740	.	.	ENSG00000149428	ENST00000404233;ENST00000353883;ENST00000529972;ENST00000536103;ENST00000535579;ENST00000525859;ENST00000544701;ENST00000543287;ENST00000530473	T;T;T;T;T	0.01685	4.69;4.69;4.69;4.69;4.69	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.18676	0.0448	H	0.95611	3.695	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.85130	0.997;0.99;0.997;0.997	T	0.08006	-1.0743	10	0.87932	D	0	-29.4488	18.9924	0.92798	0.0:1.0:0.0:0.0	.	289;342;298;298	B3KXH0;B7Z2N4;Q9Y4L1;A8C1Z0	.;.;HYOU1_HUMAN;.	H	298;289;298;298;147;298;341;211;298	ENSP00000384144:D298H;ENSP00000437313:D298H;ENSP00000433397:D298H;ENSP00000442727:D211H;ENSP00000431874:D298H	ENSP00000278752:D289H	D	-	1	0	HYOU1	118428654	1.000000	0.71417	1.000000	0.80357	0.812000	0.45895	5.625000	0.67770	2.736000	0.93811	0.655000	0.94253	GAT		0.612	HYOU1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389353.1		NM_006389		8	23	0	0	0	1	0	8	23		
ARHGEF12	23365	broad.mit.edu	37	11	120292558	120292558	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:120292558C>G	ENST00000397843.2	+	6	511	c.345C>G	c.(343-345)atC>atG	p.I115M	ARHGEF12_ENST00000532993.1_Missense_Mutation_p.I12M|ARHGEF12_ENST00000356641.3_Missense_Mutation_p.I96M	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	115	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		ATCGAATCATCAAGGTAAGGA	0.333			T	MLL	AML																																	uc001pxl.1		NaN		Dom	yes		11	11q23.3	23365	T	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)			L	MLL		AML		0				lung(2)|breast(2)|skin(2)|ovary(1)	7						c.(343-345)ATC>ATG		Rho guanine nucleotide exchange factor (GEF) 12							99.0	94.0	96.0					11																	120292558		1861	4105	5966	SO:0001583	missense	23365				apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr11:120292558C>G	AF180681	CCDS41727.1, CCDS55794.1	11q23.3	2011-11-16			ENSG00000196914	ENSG00000196914		"""Rho guanine nucleotide exchange factors"""	14193	protein-coding gene	gene with protein product		604763				10681437, 9205841	Standard	NM_001198665		Approved	KIAA0382, LARG	uc001pxl.2	Q9NZN5	OTTHUMG00000166143	ENST00000397843.2:c.345C>G	11.37:g.120292558C>G	ENSP00000380942:p.Ile115Met					ARHGEF12_uc009zat.2_Missense_Mutation_p.I96M|ARHGEF12_uc010rzn.1_Missense_Mutation_p.I12M|ARHGEF12_uc009zau.1_Missense_Mutation_p.I12M	p.I115M	NM_015313	NP_056128	Q9NZN5	ARHGC_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)	6	352	+		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)	115			PDZ.		O15086|Q6P526	Missense_Mutation	SNP	ENST00000397843.2	37	c.345C>G	CCDS41727.1	.	.	.	.	.	.	.	.	.	.	C	19.75	3.885766	0.72410	.	.	ENSG00000196914	ENST00000397843;ENST00000356641;ENST00000532993	T;T;T	0.35236	1.32;1.32;2.2	5.26	5.26	0.73747	PDZ/DHR/GLGF (4);	0.000000	0.47093	D	0.000242	T	0.52451	0.1735	L	0.48642	1.525	0.54753	D	0.999989	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.994;0.996	T	0.53613	-0.8414	10	0.87932	D	0	-9.1104	13.2018	0.59772	0.0:0.9235:0.0:0.0765	.	12;96;115	B4DGW2;Q9NZN5-2;Q9NZN5	.;.;ARHGC_HUMAN	M	115;96;12	ENSP00000380942:I115M;ENSP00000349056:I96M;ENSP00000432984:I12M	ENSP00000349056:I96M	I	+	3	3	ARHGEF12	119797768	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.352000	0.44080	2.469000	0.83416	0.655000	0.94253	ATC		0.333	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388052.1		NM_015313		12	52	0	0	0	1	0	12	52		
Unknown	0	broad.mit.edu	37	11	124096005	124096005	+	IGR	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:124096005C>T								OR10D3 (39053 upstream) : OR8G1 (24417 downstream)																							CTCTCCTGCTCCAGCACCTAC	0.423																																						uc010saf.1		NaN																	0					0						c.(607-609)TCC>TTC		olfactory receptor, family 8, subfamily G,							144.0	150.0	148.0					11																	124096005		1976	4192	6168	SO:0001628	intergenic_variant	26492					integral to membrane	olfactory receptor activity	g.chr11:124096005C>T																													11.37:g.124096005C>T							p.S203F	NM_001007249	NP_001007250	Q15614	OR8G2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.91e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)	1	608	+		Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	203						Missense_Mutation	SNP		37	c.608C>T																																																																																				0	0.423										45	247	0	0	0	1	0	45	247		
APLP2	334	broad.mit.edu	37	11	129999042	129999042	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:129999042G>A	ENST00000263574.5	+	10	1468	c.1396G>A	c.(1396-1398)Gac>Aac	p.D466N	APLP2_ENST00000278756.7_Missense_Mutation_p.D476N|APLP2_ENST00000338167.5_Missense_Mutation_p.D466N|APLP2_ENST00000345598.5_Missense_Mutation_p.D237N|APLP2_ENST00000543137.1_Missense_Mutation_p.D373N|APLP2_ENST00000528499.1_Missense_Mutation_p.D410N|APLP2_ENST00000539648.1_Missense_Mutation_p.D254N	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	466					cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		TATGCTGAATGACCGCCGTCG	0.592																																						uc010sby.1		NaN																	0				ovary(3)	3						c.(1396-1398)GAC>AAC		amyloid beta (A4) precursor-like protein 2							102.0	91.0	95.0					11																	129999042		2201	4297	6498	SO:0001583	missense	334				G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity	g.chr11:129999042G>A	L19597	CCDS8486.1, CCDS44773.1, CCDS44774.1, CCDS44775.1, CCDS58196.1	11q24	2008-02-05			ENSG00000084234	ENSG00000084234			598	protein-coding gene	gene with protein product		104776		APPL2		10702673	Standard	NM_001642		Approved	APPH	uc021qsg.1	Q06481	OTTHUMG00000165767	ENST00000263574.5:c.1396G>A	11.37:g.129999042G>A	ENSP00000263574:p.Asp466Asn					APLP2_uc001qfp.2_Missense_Mutation_p.D466N|APLP2_uc001qfq.2_Missense_Mutation_p.D410N|APLP2_uc010sbz.1_Missense_Mutation_p.D254N|APLP2_uc001qfr.2_Missense_Mutation_p.D232N|APLP2_uc001qfs.2_Missense_Mutation_p.D237N|APLP2_uc001qfv.2_Missense_Mutation_p.D357N	p.D466N	NM_001642	NP_001633	Q06481	APLP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)	10	1553	+	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)	466			Extracellular (Potential).		B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Missense_Mutation	SNP	ENST00000263574.5	37	c.1396G>A	CCDS8486.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.611023	0.87258	.	.	ENSG00000084234	ENST00000528499;ENST00000539648;ENST00000263574;ENST00000345598;ENST00000338167;ENST00000278756;ENST00000543137	T;T;T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9;0.9;0.9	5.71	4.8	0.61643	Amyloidogenic glycoprotein, E2 domain (2);	0.000000	0.85682	D	0.000000	T	0.56891	0.2016	L	0.51853	1.615	0.80722	D	1	P;D;P;P;D;D;P	0.89917	0.493;0.984;0.942;0.943;1.0;0.967;0.947	B;P;P;P;D;P;P	0.73708	0.177;0.852;0.759;0.846;0.981;0.759;0.608	T	0.55541	-0.8125	10	0.40728	T	0.16	-46.3989	13.9019	0.63809	0.073:0.0:0.927:0.0	.	254;466;410;237;404;410;466	F5H845;Q06481;Q06481-2;Q06481-5;B4E3I5;Q06481-4;Q06481-3	.;APLP2_HUMAN;.;.;.;.;.	N	410;254;466;237;466;476;373	ENSP00000435914:D410N;ENSP00000443728:D254N;ENSP00000263574:D466N;ENSP00000263575:D237N;ENSP00000345444:D466N;ENSP00000278756:D476N;ENSP00000444122:D373N	ENSP00000263574:D466N	D	+	1	0	APLP2	129504252	1.000000	0.71417	0.987000	0.45799	0.884000	0.51177	7.632000	0.83247	1.419000	0.47118	0.655000	0.94253	GAC		0.592	APLP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386109.1		NM_001642		42	26	0	0	0	1	0	42	26		
KDM5A	5927	broad.mit.edu	37	12	442723	442723	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:442723G>C	ENST00000399788.2	-	12	1945	c.1583C>G	c.(1582-1584)tCc>tGc	p.S528C	KDM5A_ENST00000382815.4_Missense_Mutation_p.S528C	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	528	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						ATCAGGCTGGGATTCAAATAA	0.507			T	NUP98	AML																																	uc001qif.1		NaN		Dom	yes		12	12p11	5927	T 	"""lysine (K)-specific demethylase 5A, JARID1A"""			L	NUP98		AML		0				skin(2)|ovary(1)	3						c.(1582-1584)TCC>TGC		retinoblastoma binding protein 2 isoform 1							135.0	137.0	136.0					12																	442723		1983	4172	6155	SO:0001583	missense	5927				chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:442723G>C		CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	9886	protein-coding gene	gene with protein product		180202	"""retinoblastoma-binding protein 2"", ""Jumonji, AT rich interactive domain 1A (RBBP2-like)"", ""jumonji, AT rich interactive domain 1A"""	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.1583C>G	12.37:g.442723G>C	ENSP00000382688:p.Ser528Cys					KDM5A_uc001qie.1_Missense_Mutation_p.S528C|KDM5A_uc010sdn.1_Missense_Mutation_p.S487C|KDM5A_uc010sdo.1_Missense_Mutation_p.S147C	p.S528C	NM_001042603	NP_001036068	P29375	KDM5A_HUMAN			12	1946	-			528			JmjC.		A8MV76|Q4LE72|Q86XZ1	Missense_Mutation	SNP	ENST00000399788.2	37	c.1583C>G	CCDS41736.1	.	.	.	.	.	.	.	.	.	.	G	32	5.186183	0.94885	.	.	ENSG00000073614	ENST00000261253;ENST00000399787;ENST00000399788;ENST00000382815;ENST00000544760	T;T;T	0.73681	-0.77;-0.77;-0.77	5.64	5.64	0.86602	Transcription factor jumonji/aspartyl beta-hydroxylase (2);Transcription factor jumonji (1);	0.053231	0.85682	D	0.000000	D	0.84737	0.5538	M	0.72624	2.21	0.80722	D	1	D;P;P;P	0.60575	0.988;0.887;0.719;0.943	P;P;P;P	0.59948	0.769;0.866;0.684;0.823	D	0.85923	0.1447	10	0.87932	D	0	-10.4786	19.6927	0.96009	0.0:0.0:1.0:0.0	.	147;528;528;528	B4DVX3;F5H1F7;P29375;P29375-2	.;.;KDM5A_HUMAN;.	C	147;487;528;528;147	ENSP00000382688:S528C;ENSP00000372265:S528C;ENSP00000440622:S147C	ENSP00000261253:S147C	S	-	2	0	KDM5A	312984	1.000000	0.71417	0.996000	0.52242	0.923000	0.55619	7.731000	0.84895	2.653000	0.90120	0.591000	0.81541	TCC		0.507	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397812.1		NM_005056		22	45	0	0	0	1	0	22	45		
NOP2	4839	broad.mit.edu	37	12	6672897	6672897	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:6672897C>G	ENST00000322166.5	-	7	692	c.571G>C	c.(571-573)Gag>Cag	p.E191Q	NOP2_ENST00000382421.3_Missense_Mutation_p.E224Q|NOP2_ENST00000545200.1_Missense_Mutation_p.E187Q|NOP2_ENST00000542015.1_Intron|NOP2_ENST00000541778.1_Missense_Mutation_p.E187Q|NOP2_ENST00000399466.2_Missense_Mutation_p.E187Q|NOP2_ENST00000537442.1_Missense_Mutation_p.E191Q	NM_001258308.1|NM_006170.3	NP_001245237.1|NP_006161.2	P46087	NOP2_HUMAN	NOP2 nucleolar protein	191					positive regulation of cell proliferation (GO:0008284)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	19						ACTTCTTTCTCTTCCTCCTCG	0.547											OREG0021630	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001qpk.1		NaN																	0				ovary(2)	2						c.(571-573)GAG>CAG		Homo sapiens cDNA FLJ31646 fis, clone NT2RI2003921, highly similar to PROLIFERATING-CELL NUCLEOLAR ANTIGEN P120.							51.0	52.0	52.0					12																	6672897		1944	4133	6077	SO:0001583	missense	4839				positive regulation of cell proliferation|rRNA processing	nucleolus	protein binding|RNA binding|S-adenosylmethionine-dependent methyltransferase activity	g.chr12:6672897C>G		CCDS44811.1, CCDS58202.1, CCDS58203.1, CCDS58204.1	12p13	2012-12-10	2012-12-10	2008-10-13	ENSG00000111641	ENSG00000111641		"""NOP2/Sun domain containing"""	7867	protein-coding gene	gene with protein product	"""NOP2/Sun domain family, member 1"""	164031	"""nucleolar protein 1 (120kD)"", ""nucleolar protein 1, 120kDa"", ""nucleolar protein 2 homolog (yeast)"", ""NOP2 nucleolar protein homolog (yeast)"""	NOL1		8088812	Standard	NM_006170		Approved	NOP120, NSUN1, p120	uc021qtz.2	P46087	OTTHUMG00000169163	ENST00000322166.5:c.571G>C	12.37:g.6672897C>G	ENSP00000313272:p.Glu191Gln		OREG0021630	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	635	NOP2_uc009zeq.1_5'Flank|NOP2_uc001qph.1_Missense_Mutation_p.E187Q|NOP2_uc001qpi.1_Missense_Mutation_p.E187Q|NOP2_uc001qpj.1_Intron|NOP2_uc001qpl.1_Missense_Mutation_p.E224Q|NOP2_uc001qpm.1_Missense_Mutation_p.E191Q	p.E191Q			P46087	NOP2_HUMAN			6	615	-			191					A1A4Z3|B3KPD6|Q05BA7|Q0P5S5|Q3KQS4|Q58F30	Missense_Mutation	SNP	ENST00000322166.5	37	c.571G>C	CCDS58203.1	.	.	.	.	.	.	.	.	.	.	C	15.39	2.820822	0.50633	.	.	ENSG00000111641	ENST00000537442;ENST00000382421;ENST00000545200;ENST00000399466;ENST00000322166;ENST00000541778;ENST00000542944;ENST00000542867	T;T;T;T;T;T;T;T	0.52526	2.3;2.32;2.37;2.31;2.3;2.31;0.78;0.66	5.6	3.59	0.41128	.	0.809558	0.10602	N	0.655552	T	0.37019	0.0988	L	0.40543	1.245	0.37913	D	0.931448	B;B	0.30482	0.281;0.078	B;B	0.22753	0.041;0.025	T	0.12451	-1.0547	10	0.36615	T	0.2	-0.7539	9.5231	0.39147	0.0:0.821:0.0:0.179	.	224;187	Q3KQS4;P46087-2	.;.	Q	191;224;187;187;191;187;67;187	ENSP00000444437:E191Q;ENSP00000371858:E224Q;ENSP00000439422:E187Q;ENSP00000382392:E187Q;ENSP00000313272:E191Q;ENSP00000443150:E187Q;ENSP00000440754:E67Q;ENSP00000443035:E187Q	ENSP00000313272:E191Q	E	-	1	0	NOP2	6543158	0.001000	0.12720	0.005000	0.12908	0.459000	0.32528	0.654000	0.24918	0.605000	0.29947	0.462000	0.41574	GAG		0.547	NOP2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402614.1		NM_006170		4	25	0	0	0	1	0	4	25		
ING4	51147	broad.mit.edu	37	12	6761554	6761554	+	Silent	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:6761554G>C	ENST00000396807.4	-	6	569	c.531C>G	c.(529-531)acC>acG	p.T177T	ING4_ENST00000446105.2_Silent_p.T173T|ING4_ENST00000423703.2_Intron|ING4_ENST00000444704.2_Silent_p.T153T|ING4_ENST00000341550.4_Silent_p.T176T|ING4_ENST00000486287.1_Intron|ING4_ENST00000412586.2_Silent_p.T174T	NM_001127582.1|NM_001127585.1|NM_001127586.1|NM_016162.3	NP_001121054.1|NP_001121057.1|NP_001121058.1|NP_057246.2	Q9UNL4	ING4_HUMAN	inhibitor of growth family, member 4	177					apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|chromatin organization (GO:0006325)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA replication (GO:0006260)|histone H3 acetylation (GO:0043966)|histone H4-K12 acetylation (GO:0043983)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth (GO:0045926)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|protein acetylation (GO:0006473)	histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	methylated histone binding (GO:0035064)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			central_nervous_system(3)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	10						CACTGCCAAAGGTCACTGAGG	0.512																																						uc001qpw.3		NaN																	0				central_nervous_system(3)|ovary(1)	4						c.(529-531)ACC>ACG		inhibitor of growth family, member 4 isoform 9							182.0	158.0	166.0					12																	6761554		2203	4300	6503	SO:0001819	synonymous_variant	51147				apoptosis|cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell proliferation|negative regulation of growth|negative regulation of transcription, DNA-dependent|positive regulation of apoptosis	histone acetyltransferase complex	protein binding|transcription coactivator activity|zinc ion binding	g.chr12:6761554G>C	AF063594	CCDS8555.1, CCDS44812.1, CCDS44813.1, CCDS44814.1, CCDS44815.1, CCDS44816.1	12p13.32	2013-01-28			ENSG00000111653	ENSG00000111653		"""Zinc fingers, PHD-type"""	19423	protein-coding gene	gene with protein product		608524				12750254	Standard	NM_001127582		Approved	p29ING4, my036	uc001qpw.4	Q9UNL4	OTTHUMG00000141274	ENST00000396807.4:c.531C>G	12.37:g.6761554G>C						ING4_uc001qpv.3_Silent_p.T176T|ING4_uc001qpy.3_Silent_p.T173T|ING4_uc001qpx.3_Silent_p.T174T|ING4_uc009zes.2_Intron|ING4_uc009zet.2_Silent_p.T153T|ING4_uc009zeu.2_Intron|ING4_uc009zev.2_RNA	p.T177T	NM_001127582	NP_001121054	Q9UNL4	ING4_HUMAN			6	572	-			177					A4KYM4|A4KYM6|D3DUR8|Q0EF62|Q0EF63|Q4VBQ6|Q96E15|Q9H3J0	Silent	SNP	ENST00000396807.4	37	c.531C>G	CCDS44813.1																																																																																				0.512	ING4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280467.2		NM_198287		28	112	0	0	0	1	0	28	112		
A2M	2	broad.mit.edu	37	12	9229519	9229519	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:9229519C>T	ENST00000318602.7	-	28	3672	c.3365G>A	c.(3364-3366)cGc>cAc	p.R1122H	A2M_ENST00000542567.1_5'Flank	NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	1122					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120)			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	CAGGGCATTGCGGACAACAGG	0.502																																						uc001qvk.1		NaN																	0				central_nervous_system(4)|skin(1)	5						c.(3364-3366)CGC>CAC		alpha-2-macroglobulin precursor	Bacitracin(DB00626)|Becaplermin(DB00102)						109.0	109.0	109.0					12																	9229519		2202	4300	6502	SO:0001583	missense	2				blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding	g.chr12:9229519C>T	BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.3365G>A	12.37:g.9229519C>T	ENSP00000323929:p.Arg1122His					A2M_uc001qvj.1_Missense_Mutation_p.R164H|A2M_uc009zgk.1_Missense_Mutation_p.R972H	p.R1122H	NM_000014	NP_000005	P01023	A2MG_HUMAN			28	3478	-			1122					Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Missense_Mutation	SNP	ENST00000318602.7	37	c.3365G>A	CCDS44827.1	.	.	.	.	.	.	.	.	.	.	C	14.05	2.418371	0.42918	.	.	ENSG00000175899	ENST00000318602;ENST00000540099	T	0.39406	1.08	5.62	4.74	0.60224	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);A-macroglobulin complement component (1);	0.126462	0.53938	D	0.000045	T	0.49626	0.1568	M	0.85041	2.73	0.30218	N	0.797079	P	0.36633	0.562	B	0.36186	0.219	T	0.60084	-0.7332	10	0.56958	D	0.05	.	14.1626	0.65457	0.0:0.9275:0.0:0.0725	.	1122	P01023	A2MG_HUMAN	H	1122;1137	ENSP00000323929:R1122H	ENSP00000323929:R1122H	R	-	2	0	A2M	9120786	0.914000	0.31030	1.000000	0.80357	0.678000	0.39670	2.043000	0.41231	1.400000	0.46741	-0.237000	0.12165	CGC		0.502	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317233.2		NM_000014		31	63	0	0	0	1	0	31	63		
PZP	5858	broad.mit.edu	37	12	9305844	9305844	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:9305844C>T	ENST00000261336.2	-	30	3898	c.3870G>A	c.(3868-3870)caG>caA	p.Q1290Q	PZP_ENST00000381997.2_Silent_p.Q1076Q	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	1290					female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.Q1076Q(1)|p.Q1290Q(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						TAGAAAAGGTCTGTGAATCCT	0.478																																					Melanoma(125;1402 1695 4685 34487 38571)	uc001qvl.2		NaN																	2	Substitution - coding silent(2)		lung(2)	ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)	5						c.(3868-3870)CAG>CAA		pregnancy-zone protein precursor							131.0	132.0	132.0					12																	9305844		2203	4300	6503	SO:0001819	synonymous_variant	5858							g.chr12:9305844C>T	X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.3870G>A	12.37:g.9305844C>T						PZP_uc009zgl.2_Silent_p.Q1076Q	p.Q1290Q	NM_002864	NP_002855					30	3899	-								A6ND27|Q15273|Q2NKL2|Q7M4N7	Silent	SNP	ENST00000261336.2	37	c.3870G>A	CCDS8600.1																																																																																				0.478	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1		NM_002864		57	77	0	0	0	1	0	57	77		
LOH12CR1	118426	broad.mit.edu	37	12	12588569	12588569	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:12588569G>C	ENST00000314565.4	+	3	541	c.210G>C	c.(208-210)ttG>ttC	p.L70F	LOH12CR1_ENST00000542728.1_Missense_Mutation_p.L51F|LOH12CR1_ENST00000298571.6_Missense_Mutation_p.L22F	NM_058169.3	NP_477517.1	Q969J3	L12R1_HUMAN	loss of heterozygosity, 12, chromosomal region 1	70										kidney(1)|large_intestine(1)|lung(1)|ovary(1)	4		Prostate(47;0.0802)		BRCA - Breast invasive adenocarcinoma(232;0.0205)		AAGGGCTATTGAGTGGCCAGA	0.403																																						uc001ral.2		NaN																	0				ovary(1)	1						c.(208-210)TTG>TTC		LOH1CR12							74.0	71.0	72.0					12																	12588569		2203	4300	6503	SO:0001583	missense	118426							g.chr12:12588569G>C	AY037865	CCDS8649.1, CCDS73448.1	12p12	2008-07-03			ENSG00000165714	ENSG00000165714			17950	protein-coding gene	gene with protein product						11896457, 15284860	Standard	XR_242885		Approved	LOH1CR12	uc001ral.2	Q969J3	OTTHUMG00000168542	ENST00000314565.4:c.210G>C	12.37:g.12588569G>C	ENSP00000321546:p.Leu70Phe					LOH12CR1_uc009zhu.2_Missense_Mutation_p.L22F	p.L70F	NM_058169	NP_477517	Q969J3	L12R1_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.0205)	3	576	+		Prostate(47;0.0802)	70					Q96QS5	Missense_Mutation	SNP	ENST00000314565.4	37	c.210G>C	CCDS8649.1	.	.	.	.	.	.	.	.	.	.	G	16.66	3.183992	0.57800	.	.	ENSG00000165714	ENST00000542728;ENST00000314565;ENST00000298571	T;T;T	0.55588	0.51;0.51;0.51	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.73458	0.3589	M	0.77103	2.36	0.46823	D	0.999211	D;B	0.76494	0.999;0.421	D;B	0.83275	0.996;0.233	T	0.75563	-0.3274	10	0.72032	D	0.01	-23.6419	15.7208	0.77708	0.0:0.1752:0.8248:0.0	.	22;70	Q969J3-2;Q969J3	.;L12R1_HUMAN	F	51;70;22	ENSP00000443023:L51F;ENSP00000321546:L70F;ENSP00000298571:L22F	ENSP00000298571:L22F	L	+	3	2	LOH12CR1	12479836	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.844000	0.62846	2.788000	0.95919	0.557000	0.71058	TTG		0.403	LOH12CR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400150.1				12	52	0	0	0	1	0	12	52		
CASC1	55259	broad.mit.edu	37	12	25260856	25260856	+	IGR	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:25260856G>C	ENST00000320267.9	-	0	2361				LRMP_ENST00000354454.3_Missense_Mutation_p.L454F|LRMP_ENST00000547044.1_Missense_Mutation_p.L454F|LRMP_ENST00000548766.1_Missense_Mutation_p.L454F	NM_001082973.1	NP_001076442	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1											breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			TTGCAGCTTTGATGAGCTTCC	0.473																																						uc001rgh.2		NaN																	0				ovary(1)|skin(1)	2						c.(1360-1362)TTG>TTC		lymphoid-restricted membrane protein							128.0	118.0	121.0					12																	25260856		2203	4300	6503	SO:0001628	intergenic_variant	4033				vesicle fusion|vesicle targeting	endoplasmic reticulum membrane|integral to plasma membrane		g.chr12:25260856G>C	AK093102	CCDS31759.2, CCDS41762.1, CCDS41763.1, CCDS55810.1, CCDS55811.1	12p12.1	2012-04-17			ENSG00000118307	ENSG00000118307		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 54"""					14583591	Standard	NM_018272		Approved	LAS1, FLJ10921, PPP1R54	uc001rgk.3	Q6TDU7	OTTHUMG00000150195		12.37:g.25260856G>C						LRMP_uc010sja.1_Missense_Mutation_p.L454F|LRMP_uc010sjb.1_Missense_Mutation_p.L401F|LRMP_uc001rgi.2_RNA|LRMP_uc010sjc.1_Missense_Mutation_p.L454F|LRMP_uc010sjd.1_Missense_Mutation_p.L401F	p.L454F	NM_006152	NP_006143	Q12912	LRMP_HUMAN			21	2396	+	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)		510			Helical; Anchor for type IV membrane protein; (Potential).		B4DNP2|F5H6T6|Q17RL2|Q4G171|Q5U5K5|Q9NV50	Missense_Mutation	SNP	ENST00000320267.9	37	c.1362G>C	CCDS41762.1	.	.	.	.	.	.	.	.	.	.	G	12.41	1.930862	0.34096	.	.	ENSG00000118308	ENST00000354454;ENST00000536173;ENST00000548766;ENST00000547044	T;T;T;T	0.19806	2.12;2.12;2.12;2.12	5.53	2.43	0.29744	.	0.421186	0.22853	N	0.054832	T	0.17152	0.0412	L	0.43757	1.38	0.43317	D	0.995336	B	0.24258	0.1	B	0.26094	0.066	T	0.05683	-1.0870	10	0.34782	T	0.22	-2.2384	9.0766	0.36525	0.0:0.2389:0.573:0.188	.	510	Q12912	LRMP_HUMAN	F	454;401;454;454	ENSP00000346442:L454F;ENSP00000444056:L401F;ENSP00000446496:L454F;ENSP00000450246:L454F	ENSP00000346442:L454F	L	+	3	2	LRMP	25152123	0.763000	0.28462	0.946000	0.38457	0.988000	0.76386	-0.124000	0.10595	1.298000	0.44778	0.557000	0.71058	TTG		0.473	CASC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316761.1		NM_018272		32	104	0	0	0	1	0	32	104		
RASSF8	11228	broad.mit.edu	37	12	26217937	26217937	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:26217937G>C	ENST00000405154.2	+	3	809	c.610G>C	c.(610-612)Gag>Cag	p.E204Q	RASSF8_ENST00000542865.1_Missense_Mutation_p.E204Q|RASSF8_ENST00000541490.1_Missense_Mutation_p.E204Q|RASSF8_ENST00000381352.3_Missense_Mutation_p.E204Q|RASSF8_ENST00000282884.9_Missense_Mutation_p.E204Q	NM_001164748.1	NP_001158220.1	Q8NHQ8	RASF8_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 8	204	Glu-rich.				signal transduction (GO:0007165)					cervix(2)|endometrium(1)|large_intestine(6)|lung(15)|urinary_tract(1)	25	Colorectal(261;0.0847)					CAACCTTGAAGAGGAAATTGT	0.363																																						uc001rgx.2		NaN																	0					0						c.(610-612)GAG>CAG		Ras association (RalGDS/AF-6) domain family							53.0	57.0	56.0					12																	26217937		2203	4300	6503	SO:0001583	missense	11228				signal transduction			g.chr12:26217937G>C	U82396	CCDS8705.1, CCDS53765.1	12p12.3	2013-05-30	2008-02-22	2005-09-14	ENSG00000123094	ENSG00000123094			13232	protein-coding gene	gene with protein product		608231	"""chromosome 12 open reading frame 2"""	C12orf2			Standard	NM_007211		Approved	HoJ-1	uc001rgx.3	Q8NHQ8	OTTHUMG00000169087	ENST00000405154.2:c.610G>C	12.37:g.26217937G>C	ENSP00000384491:p.Glu204Gln					RASSF8_uc001rgy.2_Missense_Mutation_p.E204Q|RASSF8_uc001rgz.2_Missense_Mutation_p.E204Q|RASSF8_uc009zjd.1_Missense_Mutation_p.E204Q|RASSF8_uc009zje.1_Missense_Mutation_p.E204Q	p.E204Q	NM_007211	NP_009142	Q8NHQ8	RASF8_HUMAN			3	831	+	Colorectal(261;0.0847)		204			Glu-rich.		A8K1Z0|O95647|Q5SCI2|Q76KB6	Missense_Mutation	SNP	ENST00000405154.2	37	c.610G>C	CCDS53765.1	.	.	.	.	.	.	.	.	.	.	G	16.34	3.097178	0.56075	.	.	ENSG00000123094	ENST00000381352;ENST00000405154;ENST00000542865;ENST00000541490;ENST00000542004;ENST00000541218;ENST00000282884	T;T;T;T;T;T;T	0.49720	1.46;1.45;1.45;1.45;0.83;0.77;1.45	5.0	5.0	0.66597	.	0.053577	0.64402	D	0.000001	T	0.40886	0.1135	L	0.28115	0.83	0.58432	D	0.999995	B;P	0.52316	0.037;0.952	B;P	0.45998	0.033;0.5	T	0.13202	-1.0518	10	0.20046	T	0.44	-28.6078	17.6865	0.88257	0.0:0.0:1.0:0.0	.	204;204	Q8NHQ8-2;Q8NHQ8	.;RASF8_HUMAN	Q	204	ENSP00000370756:E204Q;ENSP00000384491:E204Q;ENSP00000439839:E204Q;ENSP00000443096:E204Q;ENSP00000442485:E204Q;ENSP00000445970:E204Q;ENSP00000282884:E204Q	ENSP00000282884:E204Q	E	+	1	0	RASSF8	26109204	1.000000	0.71417	0.999000	0.59377	0.897000	0.52465	9.417000	0.97391	2.498000	0.84270	0.563000	0.77884	GAG		0.363	RASSF8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402209.2		NM_007211		7	58	0	0	0	1	0	7	58		
STK38L	23012	broad.mit.edu	37	12	27455101	27455101	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:27455101G>C	ENST00000389032.3	+	3	335	c.166G>C	c.(166-168)Gaa>Caa	p.E56Q	STK38L_ENST00000539577.1_Missense_Mutation_p.E4Q	NM_015000.3	NP_055815.1			serine/threonine kinase 38 like											breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12	Colorectal(261;0.0847)					CATGGAAGAAGAAGGATTAGC	0.299																																						uc001rhr.2		NaN																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|kidney(1)	5						c.(166-168)GAA>CAA		serine/threonine kinase 38 like							114.0	122.0	120.0					12																	27455101		2203	4300	6503	SO:0001583	missense	23012				intracellular protein kinase cascade|regulation of cellular component organization	actin cytoskeleton|cytoplasm	actin binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr12:27455101G>C	AB023182	CCDS31761.1	12p11.23	2014-04-23			ENSG00000211455	ENSG00000211455			17848	protein-coding gene	gene with protein product	"""nuclear Dbf2-related 2"""	615836				16488889	Standard	NM_015000		Approved	KIAA0965, NDR2	uc001rhr.3	Q9Y2H1	OTTHUMG00000169284	ENST00000389032.3:c.166G>C	12.37:g.27455101G>C	ENSP00000373684:p.Glu56Gln					STK38L_uc001rhs.2_RNA|STK38L_uc010sjm.1_Missense_Mutation_p.E4Q	p.E56Q	NM_015000	NP_055815	Q9Y2H1	ST38L_HUMAN			3	365	+	Colorectal(261;0.0847)		56						Missense_Mutation	SNP	ENST00000389032.3	37	c.166G>C	CCDS31761.1	.	.	.	.	.	.	.	.	.	.	G	14.63	2.592329	0.46214	.	.	ENSG00000211455	ENST00000541191;ENST00000389032;ENST00000545470;ENST00000540996;ENST00000539577;ENST00000543246;ENST00000544969	T;T;T;T;T;T;T	0.57595	1.03;1.03;1.03;1.03;0.39;1.03;1.03	4.66	4.66	0.58398	.	0.111972	0.64402	D	0.000015	T	0.64560	0.2609	L	0.52126	1.63	0.30831	N	0.736726	D;B	0.57899	0.981;0.027	D;B	0.65140	0.932;0.041	T	0.62487	-0.6844	10	0.22109	T	0.4	.	17.5379	0.87839	0.0:0.0:1.0:0.0	.	4;56	B4E3J8;Q9Y2H1	.;ST38L_HUMAN	Q	56;56;56;56;4;56;56	ENSP00000437856:E56Q;ENSP00000373684:E56Q;ENSP00000439457:E56Q;ENSP00000443838:E56Q;ENSP00000446386:E4Q;ENSP00000442253:E56Q;ENSP00000440279:E56Q	ENSP00000373684:E56Q	E	+	1	0	STK38L	27346368	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.412000	0.97347	2.305000	0.77605	0.491000	0.48974	GAA		0.299	STK38L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403297.1		NM_015000		47	72	0	0	0	1	0	47	72		
PPFIBP1	8496	broad.mit.edu	37	12	27788022	27788022	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:27788022C>G	ENST00000318304.8	+	4	527	c.244C>G	c.(244-246)Ctt>Gtt	p.L82V	PPFIBP1_ENST00000535047.1_Missense_Mutation_p.L82V|PPFIBP1_ENST00000545334.1_Missense_Mutation_p.L82V|PPFIBP1_ENST00000542629.1_Missense_Mutation_p.L82V|PPFIBP1_ENST00000537927.1_Intron|PPFIBP1_ENST00000228425.6_Missense_Mutation_p.L82V	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	82					cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)			PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					AGCAGAAACGCTTGTTGAATG	0.413																																						uc001ric.1		NaN																PPFIBP1/ALK(3)	0				soft_tissue(3)|kidney(1)|skin(1)	5						c.(244-246)CTT>GTT		PTPRF interacting protein binding protein 1							82.0	87.0	85.0					12																	27788022		2203	4300	6503	SO:0001583	missense	8496				cell adhesion	plasma membrane	protein binding	g.chr12:27788022C>G	AF034802	CCDS8713.1, CCDS55812.1, CCDS55813.1, CCDS55814.1	12p12.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9249	protein-coding gene	gene with protein product		603141				9624153, 11836260	Standard	NM_003622		Approved	L2, hSGT2, hSgt2p, SGT2	uc001ric.2	Q86W92		ENST00000318304.8:c.244C>G	12.37:g.27788022C>G	ENSP00000314724:p.Leu82Val					PPFIBP1_uc001rhy.1_Missense_Mutation_p.L82V|PPFIBP1_uc001rhz.1_Missense_Mutation_p.L82V|PPFIBP1_uc010sjr.1_Intron|PPFIBP1_uc001rib.1_Missense_Mutation_p.L82V|PPFIBP1_uc001ria.2_Missense_Mutation_p.L82V|PPFIBP1_uc001rid.1_Intron	p.L82V	NM_003622	NP_003613	Q86W92	LIPB1_HUMAN			4	621	+	Lung SC(9;0.0873)		82					O75336|Q86X70|Q9NY03|Q9ULJ0	Missense_Mutation	SNP	ENST00000318304.8	37	c.244C>G	CCDS55812.1	.	.	.	.	.	.	.	.	.	.	C	13.36	2.214226	0.39102	.	.	ENSG00000110841	ENST00000543820;ENST00000545381;ENST00000545334;ENST00000318304;ENST00000535047;ENST00000542629;ENST00000228425;ENST00000535575;ENST00000542187	T;T;T;T;T	0.18960	2.18;2.18;2.18;2.18;2.18	4.53	4.53	0.55603	.	0.000000	0.28877	U	0.013845	T	0.38532	0.1044	L	0.56769	1.78	0.41576	D	0.98871	P;D;P;B;P	0.76494	0.751;0.999;0.839;0.165;0.598	P;D;P;B;B	0.81914	0.463;0.995;0.73;0.069;0.355	T	0.05022	-1.0911	10	0.27785	T	0.31	-10.7704	11.694	0.51532	0.0:0.913:0.0:0.0869	.	82;82;82;82;82	Q86W92;Q86W92-2;Q86W92-4;Q86W92-5;F5H0E0	LIPB1_HUMAN;.;.;.;.	V	82;82;82;82;82;82;82;82;95	ENSP00000445822:L82V;ENSP00000314724:L82V;ENSP00000444046:L82V;ENSP00000443442:L82V;ENSP00000228425:L82V	ENSP00000228425:L82V	L	+	1	0	PPFIBP1	27679289	0.019000	0.18553	0.035000	0.18076	0.361000	0.29550	0.334000	0.19787	2.349000	0.79799	0.306000	0.20318	CTT		0.413	PPFIBP1-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402877.1		NM_003622		23	53	0	0	0	1	0	23	53		
IRAK4	51135	broad.mit.edu	37	12	44180267	44180267	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:44180267G>C	ENST00000448290.2	+	11	1325	c.1254G>C	c.(1252-1254)atG>atC	p.M418I	IRAK4_ENST00000440781.2_Missense_Mutation_p.M294I|IRAK4_ENST00000551736.1_Missense_Mutation_p.M418I|IRAK4_ENST00000431837.1_Missense_Mutation_p.M294I	NM_016123.3	NP_057207.2	Q9NWZ3	IRAK4_HUMAN	interleukin-1 receptor-associated kinase 4	418	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine production (GO:0001816)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)					all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.04)		ATAAAAAGATGAATGATGCTG	0.303																																						uc001rnu.3		NaN																	0					0						c.(1252-1254)ATG>ATC		interleukin-1 receptor-associated kinase 4							57.0	66.0	63.0					12																	44180267		2203	4291	6494	SO:0001583	missense	51135				innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr12:44180267G>C	AF155118	CCDS8744.1, CCDS44862.1	12q12	2014-09-17				ENSG00000198001			17967	protein-coding gene	gene with protein product		606883				3772297, 10508479	Standard	NM_001114182		Approved	NY-REN-64	uc001rnt.3	Q9NWZ3		ENST00000448290.2:c.1254G>C	12.37:g.44180267G>C	ENSP00000390651:p.Met418Ile					IRAK4_uc001rnt.3_Missense_Mutation_p.M418I|IRAK4_uc001rnx.3_Missense_Mutation_p.M294I|IRAK4_uc001rny.3_Missense_Mutation_p.M294I|IRAK4_uc010sky.1_Missense_Mutation_p.M294I|IRAK4_uc001rnv.3_Missense_Mutation_p.M294I|IRAK4_uc001rnw.3_Missense_Mutation_p.M294I	p.M418I	NM_001114182	NP_001107654	Q9NWZ3	IRAK4_HUMAN		GBM - Glioblastoma multiforme(48;0.04)	12	1384	+	all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)	418			Protein kinase.		Q69FE1|Q8TDF7|Q9Y589	Missense_Mutation	SNP	ENST00000448290.2	37	c.1254G>C	CCDS8744.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.123732	0.77436	.	.	ENSG00000198001	ENST00000440781;ENST00000431837;ENST00000448290;ENST00000551736	T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16	6.02	6.02	0.97574	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.039626	0.85682	D	0.000000	T	0.49660	0.1570	N	0.01454	-0.855	0.80722	D	1	B	0.24882	0.113	B	0.40410	0.328	T	0.58763	-0.7579	10	0.66056	D	0.02	-22.0862	20.547	0.99278	0.0:0.0:1.0:0.0	.	418	Q9NWZ3	IRAK4_HUMAN	I	294;294;418;418	ENSP00000408734:M294I;ENSP00000390327:M294I;ENSP00000390651:M418I;ENSP00000446490:M418I	ENSP00000390327:M294I	M	+	3	0	IRAK4	42466534	1.000000	0.71417	0.995000	0.50966	0.798000	0.45092	5.555000	0.67301	2.850000	0.98022	0.650000	0.86243	ATG		0.303	IRAK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403947.1				18	75	0	0	0	1	0	18	75		
SLC38A2	54407	broad.mit.edu	37	12	46764968	46764968	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:46764968G>A	ENST00000256689.5	-	2	553	c.109C>T	c.(109-111)Ctg>Ttg	p.L37L	SLC38A2_ENST00000547252.1_5'UTR|RP11-474P2.2_ENST00000550319.1_RNA	NM_018976.4	NP_061849.2	Q96QD8	S38A2_HUMAN	solute carrier family 38, member 2	37	Regulates protein turnover upon amino acid deprivation. {ECO:0000250}.				amino acid transport (GO:0006865)|glutamate secretion (GO:0014047)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|sodium ion transport (GO:0006814)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|symporter activity (GO:0015293)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	18	Lung SC(27;0.192)|Renal(347;0.236)		OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)		CACCTTTTCAGAGCAGCTTGC	0.488																																					Ovarian(9;448 492 8335 28722 40361)	uc001rpg.2		NaN																	0				urinary_tract(1)|skin(1)	2						c.(109-111)CTG>TTG		solute carrier family 38, member 2							162.0	157.0	159.0					12																	46764968		2203	4300	6503	SO:0001819	synonymous_variant	54407				cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity	g.chr12:46764968G>A	AB037803	CCDS8749.1	12q13.11	2014-08-12			ENSG00000134294	ENSG00000134294		"""Solute carriers"""	13448	protein-coding gene	gene with protein product		605180				10747860, 17237199	Standard	NM_018976		Approved	SAT2, ATA2, KIAA1382, SNAT2	uc001rpg.3	Q96QD8	OTTHUMG00000169471	ENST00000256689.5:c.109C>T	12.37:g.46764968G>A						SLC38A2_uc001rph.2_5'UTR	p.L37L	NM_018976	NP_061849	Q96QD8	S38A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)	2	549	-	Lung SC(27;0.192)|Renal(347;0.236)		37			Cytoplasmic (Potential).|Regulates protein turnover upon amino acid deprivation (By similarity).		Q6IA88|Q6ZMG2|Q9HAV3|Q9NVA8|Q9P2G5	Silent	SNP	ENST00000256689.5	37	c.109C>T	CCDS8749.1																																																																																				0.488	SLC38A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404226.1				8	127	0	0	0	1	0	8	127		
PCED1B	91523	broad.mit.edu	37	12	47472633	47472633	+	5'Flank	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:47472633G>T	ENST00000546455.1	+	0	0				AMIGO2_ENST00000550413.1_Silent_p.I51I|AMIGO2_ENST00000321382.3_Silent_p.I51I|AMIGO2_ENST00000266581.4_Silent_p.I51I|AMIGO2_ENST00000429635.1_Silent_p.I51I			Q96HM7	PED1B_HUMAN	PC-esterase domain containing 1B								hydrolase activity (GO:0016787)										TGCAGCTGACGATGTCAGTGG	0.542																																						uc001rpm.2		NaN																	0				ovary(1)|skin(1)	2						c.(151-153)ATC>ATA		adhesion molecule with Ig-like domain 2							78.0	78.0	78.0					12																	47472633		2203	4300	6503	SO:0001631	upstream_gene_variant	347902				heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane		g.chr12:47472633G>T	BC016154	CCDS8752.1	12q13.11	2012-06-11	2012-06-11	2012-06-11	ENSG00000179715	ENSG00000179715			28255	protein-coding gene	gene with protein product			"""family with sequence similarity 113, member B"""	FAM113B		20056006	Standard	NM_138371		Approved	MGC16044	uc001rpq.3	Q96HM7	OTTHUMG00000169617		12.37:g.47472633G>T	Exception_encountered					FAM113B_uc001rpn.2_5'Flank|AMIGO2_uc001rpk.2_Silent_p.I51I|AMIGO2_uc001rpl.2_Silent_p.I51I	p.I51I	NM_001143668	NP_001137140	Q86SJ2	AMGO2_HUMAN			3	808	-	Renal(347;0.138)|Lung SC(27;0.192)		51			Extracellular (Potential).|LRRNT.		Q96B20	Silent	SNP	ENST00000546455.1	37	c.153C>A	CCDS8752.1																																																																																				0.542	PCED1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405079.1		NM_138371		33	62	1	0	1.56442e-22	1	1.75029e-22	33	62		
DDX23	9416	broad.mit.edu	37	12	49226345	49226345	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:49226345G>A	ENST00000308025.3	-	14	1894	c.1815C>T	c.(1813-1815)ttC>ttT	p.F605F		NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	605	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						TGGTGGCCGTGAACATGACTG	0.587																																						uc001rsm.2		NaN																	0				kidney(3)|ovary(1)|lung(1)|skin(1)	6						c.(1813-1815)TTC>TTT		DEAD (Asp-Glu-Ala-Asp) box polypeptide 23							44.0	39.0	41.0					12																	49226345		2203	4300	6503	SO:0001819	synonymous_variant	9416					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding	g.chr12:49226345G>A	AF026402	CCDS8770.1	12q13.11	2013-07-16				ENSG00000174243		"""DEAD-boxes"""	17347	protein-coding gene	gene with protein product		612172	"""PRP28 homolog, yeast"""			9409622, 9539711	Standard	NM_004818		Approved	prp28, U5-100K, PRPF28, SNRNP100	uc001rsm.3	Q9BUQ8		ENST00000308025.3:c.1815C>T	12.37:g.49226345G>A							p.F605F	NM_004818	NP_004809	Q9BUQ8	DDX23_HUMAN			14	1906	-			605			Helicase ATP-binding.		B2R600|B4DH15|O43188	Silent	SNP	ENST00000308025.3	37	c.1815C>T	CCDS8770.1																																																																																				0.587	DDX23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408897.2		NM_004818		9	41	0	0	0	1	0	9	41		
KMT2D	8085	broad.mit.edu	37	12	49424126	49424126	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNASeq			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:49424126C>T	ENST00000301067.7	-	42	13935	c.13936G>A	c.(13936-13938)Gaa>Aaa	p.E4646K		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	4646					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										CCCAGCTCTTCAGATGGGGTG	0.612																																						uc001rta.3		NaN								N|F|Mis							medulloblastoma|renal		0				kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(13936-13938)GAA>AAA		myeloid/lymphoid or mixed-lineage leukemia 2							21.0	22.0	22.0					12																	49424126		1892	4121	6013	SO:0001583	missense	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49424126C>T	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.13936G>A	12.37:g.49424126C>T	ENSP00000301067:p.Glu4646Lys	HNSCC(34;0.089)					p.E4646K	NM_003482	NP_003473	O14686	MLL2_HUMAN			42	13936	-			4646					O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.13936G>A	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	15.71	2.913104	0.52439	.	.	ENSG00000167548	ENST00000301067	D	0.83075	-1.68	5.58	5.58	0.84498	.	0.206931	0.24502	N	0.037962	D	0.84831	0.5559	M	0.74647	2.275	0.58432	D	0.999999	P	0.40050	0.7	B	0.39935	0.314	D	0.86747	0.1958	10	0.87932	D	0	.	18.7345	0.91749	0.0:1.0:0.0:0.0	.	4646	O14686	MLL2_HUMAN	K	4646	ENSP00000301067:E4646K	ENSP00000301067:E4646K	E	-	1	0	MLL2	47710393	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.570000	0.82390	2.813000	0.96785	0.655000	0.94253	GAA		0.612	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2				5	6	0	0	0	1	0	5	6		
NCKAP5L	57701	broad.mit.edu	37	12	50195682	50195682	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:50195682C>T	ENST00000335999.6	-	6	501	c.300G>A	c.(298-300)ctG>ctA	p.L100L		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	96								p.L100L(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						ACAGGGCACTCAGCATCTGGT	0.592																																						uc009zlk.2		NaN																	1	Substitution - coding silent(1)		breast(1)	central_nervous_system(1)	1						c.(298-300)CTG>CTA		NCK-associated protein 5-like							149.0	168.0	162.0					12																	50195682		2161	4248	6409	SO:0001819	synonymous_variant	57701							g.chr12:50195682C>T	AB046822	CCDS41781.2	12q13.12	2009-08-14	2009-08-14	2009-08-14	ENSG00000167566	ENSG00000167566			29321	protein-coding gene	gene with protein product		615104	"""KIAA1602"""	KIAA1602			Standard	NM_001037806		Approved		uc009zlk.2	Q9HCH0	OTTHUMG00000156969	ENST00000335999.6:c.300G>A	12.37:g.50195682C>T							p.L100L	NM_001037806	NP_001032895	Q9HCH0	NCK5L_HUMAN			6	502	-			96			Potential.		Q2TB26|Q71RH1|Q8N4W1|Q96HX2	Silent	SNP	ENST00000335999.6	37	c.300G>A	CCDS41781.2																																																																																				0.592	NCKAP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346884.2		XM_035497		15	66	0	0	0	1	0	15	66		
LIMA1	51474	broad.mit.edu	37	12	50598415	50598415	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:50598415G>C	ENST00000341247.4	-	6	933	c.784C>G	c.(784-786)Ctc>Gtc	p.L262V	LIMA1_ENST00000547825.1_5'Flank|LIMA1_ENST00000552823.1_Missense_Mutation_p.L102V|LIMA1_ENST00000394943.3_Missense_Mutation_p.L262V|LIMA1_ENST00000552783.1_Missense_Mutation_p.L102V|LIMA1_ENST00000552008.1_5'UTR|LIMA1_ENST00000552909.1_Missense_Mutation_p.L102V	NM_001113546.1|NM_016357.4	NP_001107018.1|NP_057441.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	262					actin filament bundle assembly (GO:0051017)|negative regulation of actin filament depolymerization (GO:0030835)|ruffle organization (GO:0031529)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						GTTTCTGAGAGGCGTGGAAGT	0.413																																						uc001rwj.3		NaN																	0				ovary(1)	1						c.(784-786)CTC>GTC		LIM domain and actin binding 1 isoform b							168.0	147.0	154.0					12																	50598415		2203	4300	6503	SO:0001583	missense	51474				actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding	g.chr12:50598415G>C	AF198454	CCDS8802.1, CCDS44877.1, CCDS55826.1, CCDS58230.1	12q13.12	2006-04-12				ENSG00000050405			24636	protein-coding gene	gene with protein product	"""epithelial protein lost in neoplasm beta"""	608364				10806352, 10618726, 12566430	Standard	NM_016357		Approved	EPLIN	uc001rwk.4	Q9UHB6		ENST00000341247.4:c.784C>G	12.37:g.50598415G>C	ENSP00000340184:p.Leu262Val					LIMA1_uc001rwg.3_5'Flank|LIMA1_uc001rwh.3_Missense_Mutation_p.L102V|LIMA1_uc001rwi.3_Missense_Mutation_p.L102V|LIMA1_uc001rwk.3_Missense_Mutation_p.L262V|LIMA1_uc010smr.1_RNA|LIMA1_uc010sms.1_RNA	p.L262V	NM_016357	NP_057441	Q9UHB6	LIMA1_HUMAN			6	958	-			262					B2RB09|Q2TAN7|Q59FE8|Q9BVF2|Q9H8J1|Q9HBN5|Q9NX96|Q9NXC3|Q9NXU6|Q9P0H8|Q9UHB5	Missense_Mutation	SNP	ENST00000341247.4	37	c.784C>G	CCDS8802.1	.	.	.	.	.	.	.	.	.	.	G	19.48	3.834980	0.71373	.	.	ENSG00000050405	ENST00000552823;ENST00000394943;ENST00000341247;ENST00000552783;ENST00000552909;ENST00000420992	D;D;T;D;D	0.85411	-1.6;-1.98;-1.24;-1.59;-1.6	5.57	3.62	0.41486	.	0.181219	0.36101	N	0.002792	D	0.89178	0.6641	M	0.71581	2.175	0.40624	D	0.981799	D;D;D	0.89917	1.0;0.988;0.958	D;P;P	0.83275	0.996;0.788;0.793	D	0.88415	0.3024	10	0.66056	D	0.02	.	4.5764	0.12236	0.2199:0.178:0.6021:0.0	.	271;262;102	Q59FE8;Q9UHB6;F8VQE1	.;LIMA1_HUMAN;.	V	102;262;262;102;102;181	ENSP00000450266:L102V;ENSP00000378400:L262V;ENSP00000340184:L262V;ENSP00000448779:L102V;ENSP00000450087:L102V	ENSP00000340184:L262V	L	-	1	0	LIMA1	48884682	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.515000	0.35845	1.485000	0.48380	0.585000	0.79938	CTC		0.413	LIMA1-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406235.2		NM_016357		54	62	0	0	0	1	0	54	62		
KRT84	3890	broad.mit.edu	37	12	52774948	52774948	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:52774948G>A	ENST00000257951.3	-	6	1185	c.1119C>T	c.(1117-1119)aaC>aaT	p.N373N	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	373	Coil 2.|Rod.				hair follicle development (GO:0001942)|nail development (GO:0035878)|regulation of keratinocyte differentiation (GO:0045616)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of epidermis (GO:0030280)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TGTTGCGCAGGTTGTCACAGT	0.557																																						uc001sah.1		NaN																	0				skin(1)	1						c.(1117-1119)AAC>AAT		keratin, hair, basic, 4							210.0	185.0	194.0					12																	52774948		2203	4300	6503	SO:0001819	synonymous_variant	3890					keratin filament	structural constituent of epidermis	g.chr12:52774948G>A	Y19209	CCDS8825.1	12q13	2013-06-25	2006-07-17	2006-07-17	ENSG00000161849	ENSG00000161849		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6461	protein-coding gene	gene with protein product	"""hard keratin type II 4"""	602766	"""keratin, hair, basic, 4"""	KRTHB4		2431943, 16831889	Standard	NM_033045		Approved	Hb-4	uc001sah.1	Q9NSB2	OTTHUMG00000169634	ENST00000257951.3:c.1119C>T	12.37:g.52774948G>A							p.N373N	NM_033045	NP_149034	Q9NSB2	KRT84_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	6	1167	-	all_hematologic(5;0.12)		373			Rod.|Coil 2.		B2RA43|Q6ISB0|Q701L6	Silent	SNP	ENST00000257951.3	37	c.1119C>T	CCDS8825.1																																																																																				0.557	KRT84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405187.1		NM_033045		40	144	0	0	0	1	0	40	144		
KRT84	3890	broad.mit.edu	37	12	52776813	52776813	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:52776813C>G	ENST00000257951.3	-	3	858	c.792G>C	c.(790-792)gaG>gaC	p.E264D	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	264	Coil 1B.|Rod.				hair follicle development (GO:0001942)|nail development (GO:0035878)|regulation of keratinocyte differentiation (GO:0045616)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of epidermis (GO:0030280)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CAAACTCATTCTCAGCATTGG	0.502																																						uc001sah.1		NaN																	0				skin(1)	1						c.(790-792)GAG>GAC		keratin, hair, basic, 4							155.0	132.0	140.0					12																	52776813		2203	4300	6503	SO:0001583	missense	3890					keratin filament	structural constituent of epidermis	g.chr12:52776813C>G	Y19209	CCDS8825.1	12q13	2013-06-25	2006-07-17	2006-07-17	ENSG00000161849	ENSG00000161849		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6461	protein-coding gene	gene with protein product	"""hard keratin type II 4"""	602766	"""keratin, hair, basic, 4"""	KRTHB4		2431943, 16831889	Standard	NM_033045		Approved	Hb-4	uc001sah.1	Q9NSB2	OTTHUMG00000169634	ENST00000257951.3:c.792G>C	12.37:g.52776813C>G	ENSP00000257951:p.Glu264Asp						p.E264D	NM_033045	NP_149034	Q9NSB2	KRT84_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	3	840	-	all_hematologic(5;0.12)		264			Rod.|Coil 1B.		B2RA43|Q6ISB0|Q701L6	Missense_Mutation	SNP	ENST00000257951.3	37	c.792G>C	CCDS8825.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.974763	0.74360	.	.	ENSG00000161849	ENST00000257951	D	0.94330	-3.4	5.36	4.47	0.54385	Filament (1);	0.000000	0.49305	D	0.000157	D	0.96670	0.8913	M	0.91406	3.205	0.32481	N	0.541456	D	0.76494	0.999	D	0.69824	0.966	D	0.97061	0.9771	10	0.87932	D	0	.	8.7114	0.34387	0.0:0.7739:0.0:0.2261	.	264	Q9NSB2	KRT84_HUMAN	D	264	ENSP00000257951:E264D	ENSP00000257951:E264D	E	-	3	2	KRT84	51063080	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.539000	0.45718	1.406000	0.46857	0.650000	0.86243	GAG		0.502	KRT84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405187.1		NM_033045		18	59	0	0	0	1	0	18	59		
KRT4	3851	broad.mit.edu	37	12	53204577	53204577	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:53204577C>T	ENST00000551956.1	-	3	1193	c.701G>A	c.(700-702)cGc>cAc	p.R234H	KRT4_ENST00000293774.4_Missense_Mutation_p.R308H|KRT4_ENST00000458244.2_Missense_Mutation_p.R214H			P19013	K2C4_HUMAN	keratin 4	248	Coil 1B.|Rod.				cytoskeleton organization (GO:0007010)|epithelial cell differentiation (GO:0030855)|negative regulation of epithelial cell proliferation (GO:0050680)	cell surface (GO:0009986)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)	p.R308H(1)		endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						GGCTGCTGTGCGTTTGTTGAT	0.517																																					Pancreas(190;284 2995 41444 45903)	uc001saz.2		NaN																	1	Substitution - Missense(1)		endometrium(1)	ovary(4)|skin(2)	6						c.(922-924)CGC>CAC		keratin 4							140.0	140.0	140.0					12																	53204577		2051	4236	6287	SO:0001583	missense	3851					keratin filament	structural molecule activity	g.chr12:53204577C>T		CCDS41787.1, CCDS41787.2	12q13.13	2013-01-16			ENSG00000170477	ENSG00000170477		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6441	protein-coding gene	gene with protein product	"""cytokeratin 4"", ""keratin, type II cytoskeletal 4"""	123940		CYK4		16831889	Standard	NM_002272		Approved	CK4, K4	uc031qhk.1	P19013		ENST00000551956.1:c.701G>A	12.37:g.53204577C>T	ENSP00000448220:p.Arg234His						p.R308H	NM_002272	NP_002263	B4DRS2	B4DRS2_HUMAN			3	1194	-			234					F8VS64|Q6GTR8|Q96LA7|Q9BTL1	Missense_Mutation	SNP	ENST00000551956.1	37	c.923G>A	CCDS41787.2	.	.	.	.	.	.	.	.	.	.	C	19.95	3.921175	0.73213	.	.	ENSG00000170477	ENST00000551956;ENST00000293774;ENST00000458244	D;D;D	0.89939	-2.59;-2.59;-2.59	4.29	4.29	0.51040	Filament (1);	0.000000	0.44097	D	0.000493	D	0.93393	0.7893	M	0.86178	2.8	0.45995	D	0.998802	D	0.64830	0.994	P	0.57846	0.828	D	0.94002	0.7276	10	0.66056	D	0.02	.	14.5632	0.68156	0.0:1.0:0.0:0.0	.	248	P19013	K2C4_HUMAN	H	234;308;214	ENSP00000448220:R234H;ENSP00000293774:R308H;ENSP00000387904:R214H	ENSP00000293774:R308H	R	-	2	0	KRT4	51490844	0.872000	0.30054	0.962000	0.40283	0.616000	0.37450	3.157000	0.50716	2.676000	0.91093	0.563000	0.77884	CGC		0.517	KRT4-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405931.1		NM_002272		16	53	0	0	0	1	0	16	53		
SP7	121340	broad.mit.edu	37	12	53723022	53723022	+	Missense_Mutation	SNP	A	A	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:53723022A>T	ENST00000536324.2	-	3	487	c.204T>A	c.(202-204)ttT>ttA	p.F68L	SP7_ENST00000537210.2_Missense_Mutation_p.F50L|SP7_ENST00000303846.3_Missense_Mutation_p.F68L	NM_001173467.1	NP_001166938.1	Q8TDD2	SP7_HUMAN	Sp7 transcription factor	68					hematopoietic stem cell differentiation (GO:0060218)|osteoblast differentiation (GO:0001649)|positive regulation of stem cell differentiation (GO:2000738)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	14						TAGTGCTTGTAAAGGGGGCTG	0.542																																						uc001sct.2		NaN																	0					0						c.(202-204)TTT>TTA		osterix							181.0	183.0	182.0					12																	53723022		2020	4176	6196	SO:0001583	missense	121340				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr12:53723022A>T	AF477981	CCDS44897.1, CCDS73475.1	12q13.13	2013-01-08				ENSG00000170374		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	17321	protein-coding gene	gene with protein product		606633				11792318	Standard	NM_152860		Approved	osterix, OSX	uc001sct.3	Q8TDD2		ENST00000536324.2:c.204T>A	12.37:g.53723022A>T	ENSP00000443827:p.Phe68Leu					SP7_uc001scu.2_Missense_Mutation_p.F50L|SP7_uc001scv.2_Missense_Mutation_p.F68L	p.F68L	NM_152860	NP_690599	Q8TDD2	SP7_HUMAN			2	311	-			68					B3KY26|Q3MJ72|Q7Z718	Missense_Mutation	SNP	ENST00000536324.2	37	c.204T>A	CCDS44897.1	.	.	.	.	.	.	.	.	.	.	A	9.994	1.231648	0.22626	.	.	ENSG00000170374	ENST00000536324;ENST00000303846;ENST00000537210;ENST00000547755	T;T;T;T	0.42513	3.37;3.37;3.38;0.97	3.85	0.286	0.15710	.	0.060795	0.64402	D	0.000003	T	0.20210	0.0486	N	0.24115	0.695	0.39582	D	0.969454	P	0.40398	0.716	B	0.35470	0.203	T	0.13361	-1.0512	10	0.11485	T	0.65	.	8.1708	0.31254	0.4414:0.0:0.5586:0.0	.	68	Q8TDD2	SP7_HUMAN	L	68;68;50;50	ENSP00000443827:F68L;ENSP00000302812:F68L;ENSP00000441367:F50L;ENSP00000449355:F50L	ENSP00000302812:F68L	F	-	3	2	SP7	52009289	0.909000	0.30893	0.950000	0.38849	0.822000	0.46500	0.413000	0.21148	0.040000	0.15660	0.260000	0.18958	TTT		0.542	SP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406917.1				30	139	0	0	0	1	0	30	139		
ATF7	11016	broad.mit.edu	37	12	53918472	53918472	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:53918472C>T	ENST00000548446.2	-	10	1146	c.1034G>A	c.(1033-1035)cGa>cAa	p.R345Q	ATF7_ENST00000546661.1_5'UTR|ATF7_ENST00000328463.7_Missense_Mutation_p.R345Q|ATF7_ENST00000415113.1_Missense_Mutation_p.R313Q|ATF7_ENST00000456903.4_Missense_Mutation_p.R334Q|ATF7_ENST00000420353.2_Missense_Mutation_p.R334Q|RP11-793H13.10_ENST00000591834.1_Missense_Mutation_p.R334Q			P17544	ATF7_HUMAN	activating transcription factor 7	345	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|Essential for binding adenovirus 2 E1A.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|mitogen-activated protein kinase binding (GO:0051019)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9					Pseudoephedrine(DB00852)	GCGCTGCCGTCGCTCATCTGG	0.622																																						uc001sdy.2		NaN																	0				ovary(1)|lung(1)	2						c.(1033-1035)CGA>CAA		activating transcription factor 7 isoform 1							32.0	32.0	32.0					12																	53918472		1913	4120	6033	SO:0001583	missense	11016				interspecies interaction between organisms	cytoplasm|nuclear periphery|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:53918472C>T	X52943	CCDS44906.1, CCDS58238.1	12q13	2013-01-10				ENSG00000170653		"""basic leucine zipper proteins"""	792	protein-coding gene	gene with protein product		606371				1694576, 11278933	Standard	NM_006856		Approved	ATFA	uc001sdz.3	P17544	OTTHUMG00000169776	ENST00000548446.2:c.1034G>A	12.37:g.53918472C>T	ENSP00000449938:p.Arg345Gln					ATF7_uc010sok.1_RNA|ATF7_uc001sdz.2_Missense_Mutation_p.R334Q|ATF7_uc010sol.1_Missense_Mutation_p.R313Q	p.R345Q	NM_001130059	NP_001123531	P17544	ATF7_HUMAN			9	1055	-			345			Basic motif.|Essential for binding adenovirus 2 E1A.		A5D6Y4|B2RMP1|B4DQL4|Q13814|Q8IVR8|Q9UD83	Missense_Mutation	SNP	ENST00000548446.2	37	c.1034G>A		.	.	.	.	.	.	.	.	.	.	C	36	5.956415	0.97145	.	.	ENSG00000170653	ENST00000548446;ENST00000328463;ENST00000306727;ENST00000415113;ENST00000420353;ENST00000456903	T;T;T;T;T	0.54866	0.55;0.55;0.55;0.55;0.55	5.32	5.32	0.75619	Basic-leucine zipper (bZIP) transcription factor (2);bZIP transcription factor, bZIP-1 (1);	0.000000	0.85682	D	0.000000	T	0.75095	0.3803	M	0.80183	2.485	0.58432	D	0.999999	D;D;D	0.89917	1.0;0.998;0.999	D;D;D	0.91635	0.999;0.992;0.984	T	0.77387	-0.2607	10	0.87932	D	0	-16.6686	18.3142	0.90213	0.0:1.0:0.0:0.0	.	313;334;345	P17544-2;B2RMP1;P17544	.;.;ATF7_HUMAN	Q	345;345;158;313;334;334	ENSP00000449938:R345Q;ENSP00000329212:R345Q;ENSP00000404880:R313Q;ENSP00000399465:R334Q;ENSP00000387406:R334Q	ENSP00000304187:R158Q	R	-	2	0	ATF7	52204739	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.880000	0.69698	2.941000	0.99782	0.655000	0.94253	CGA		0.622	ATF7-007	KNOWN	NMD_exception|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000406302.2		NM_001130059		8	23	0	0	0	1	0	8	23		
SARNP	84324	broad.mit.edu	37	12	56188173	56188173	+	Splice_Site	SNP	T	T	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:56188173T>C	ENST00000336133.3	-	7	432		c.e7-2		SARNP_ENST00000444631.2_Splice_Site|SARNP_ENST00000552080.1_Splice_Site|RP11-762I7.5_ENST00000546837.1_Splice_Site	NM_033082.3	NP_149073.1	P82979	SARNP_HUMAN	SAP domain containing ribonucleoprotein						mRNA export from nucleus (GO:0006406)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|transcription, DNA-templated (GO:0006351)	intracellular membrane-bounded organelle (GO:0043231)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|transcription export complex (GO:0000346)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	6						ATCCCAAACCTGAAGAAGGAA	0.358																																						uc001shu.1		NaN																	0				ovary(3)|large_intestine(1)	4						c.e12-1		dopamine receptor interacting protein							186.0	209.0	201.0					12																	56188173		2203	4300	6503	SO:0001630	splice_region_variant	85406				protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding	g.chr12:56188173T>C	AJ409089	CCDS8892.1	12q13.2	2009-07-09				ENSG00000205323			24432	protein-coding gene	gene with protein product	"""hepatocellular carcinoma 1"", ""cytokine induced protein 29 kDa"""	610049				11356193, 11922608	Standard	NM_033082		Approved	THO1, Hcc-1, CIP29		P82979	OTTHUMG00000170441	ENST00000336133.3:c.378-2A>G	12.37:g.56188173T>C						SARNP_uc009zoa.2_Splice_Site|SARNP_uc001shs.3_Splice_Site|SARNP_uc001sht.2_Splice_Site_p.R126_splice|SARNP_uc001shv.3_Intron	p.R809_splice	NM_032364	NP_115740	Q6Y2X3	DJC14_HUMAN			12	2483	-								A8K393|Q9P066	Splice_Site	SNP	ENST00000336133.3	37	c.2427_splice	CCDS8892.1	.	.	.	.	.	.	.	.	.	.	T	11.91	1.779644	0.31502	.	.	ENSG00000205323;ENSG00000205323;ENSG00000205323;ENSG00000257390	ENST00000444631;ENST00000336133;ENST00000552080;ENST00000546837	.	.	.	5.22	5.22	0.72569	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.8147	0.52202	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	SARNP;RP11-762I7.5	54474440	1.000000	0.71417	1.000000	0.80357	0.238000	0.25445	4.322000	0.59215	2.117000	0.64856	0.533000	0.62120	.		0.358	SARNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409159.2		NM_033082	Intron	69	234	0	0	0	1	0	69	234		
DNAJC14	85406	broad.mit.edu	37	12	56215880	56215880	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:56215880A>G	ENST00000357606.3	-	8	2279	c.1990T>C	c.(1990-1992)Ttt>Ctt	p.F664L	DNAJC14_ENST00000317287.5_Missense_Mutation_p.F664L|DNAJC14_ENST00000317269.3_Missense_Mutation_p.F664L|RP11-762I7.5_ENST00000546837.1_Missense_Mutation_p.L293P|RP11-762I7.5_ENST00000552719.1_5'UTR			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	664					protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						GGAGCTGCAAAGAAGTTCCCA	0.567																																						uc001shx.1		NaN																	0				ovary(3)|large_intestine(1)	4						c.(1990-1992)TTT>CTT		dopamine receptor interacting protein							83.0	79.0	80.0					12																	56215880		2203	4300	6503	SO:0001583	missense	85406				protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding	g.chr12:56215880A>G	AF141342	CCDS8894.1	12q12	2011-09-02				ENSG00000135392		"""Heat shock proteins / DNAJ (HSP40)"""	24581	protein-coding gene	gene with protein product		606092				11331877, 11984006	Standard	NM_032364		Approved	DNAJ, DRIP78, HDJ3, LIP6, FLJ32792	uc001shu.2	Q6Y2X3		ENST00000357606.3:c.1990T>C	12.37:g.56215880A>G	ENSP00000350223:p.Phe664Leu					DNAJC14_uc001shu.1_Missense_Mutation_p.F664L|DNAJC14_uc009zob.1_Missense_Mutation_p.F664L	p.F664L	NM_032364	NP_115740	Q6Y2X3	DJC14_HUMAN			7	2194	-			664					A5YM67|Q17RY2|Q66K17|Q96N59|Q96T63	Missense_Mutation	SNP	ENST00000357606.3	37	c.1990T>C	CCDS8894.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.8|23.8	4.461988|4.461988	0.84425|0.84425	.|.	.|.	ENSG00000135392|ENSG00000257390	ENST00000357606;ENST00000317269;ENST00000537962;ENST00000317287|ENST00000546837	T;T;T|.	0.34667|.	1.35;1.35;1.35|.	5.64|5.64	5.64|5.64	0.86602|0.86602	.|.	0.118680|.	0.56097|.	D|.	0.000036|.	T|T	0.57066|0.57066	0.2028|0.2028	L|L	0.36672|0.36672	1.1|1.1	0.39273|0.39273	D|D	0.964413|0.964413	D;D|.	0.53151|.	0.958;0.958|.	B;B|.	0.44224|.	0.444;0.444|.	T|T	0.56968|0.56968	-0.7891|-0.7891	10|5	0.45353|.	T|.	0.12|.	-6.049|-6.049	14.1104|14.1104	0.65118|0.65118	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	664;664|.	Q6Y2X3;A8K5A7|.	DJC14_HUMAN;.|.	L|P	664;664;374;664|293	ENSP00000350223:F664L;ENSP00000316240:F664L;ENSP00000317500:F664L|.	ENSP00000316240:F664L|.	F|L	-|-	1|2	0|0	DNAJC14|RP11-762I7.5	54502147|54502147	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.965000|0.965000	0.64279|0.64279	7.715000|7.715000	0.84713|0.84713	2.287000|2.287000	0.76781|0.76781	0.482000|0.482000	0.46254|0.46254	TTT|CTT		0.567	DNAJC14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409095.1		NM_032364		20	56	0	0	0	1	0	20	56		
PMEL	6490	broad.mit.edu	37	12	56351734	56351734	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:56351734G>C	ENST00000548747.1	-	5	1266	c.604C>G	c.(604-606)Cat>Gat	p.H202D	PMEL_ENST00000548493.1_Missense_Mutation_p.H202D|PMEL_ENST00000550447.1_Intron|PMEL_ENST00000552882.1_Missense_Mutation_p.H202D|PMEL_ENST00000360714.4_Missense_Mutation_p.H202D|PMEL_ENST00000548689.1_5'UTR|PMEL_ENST00000539511.1_Missense_Mutation_p.H116D|PMEL_ENST00000550464.1_Missense_Mutation_p.H116D|PMEL_ENST00000449260.2_Missense_Mutation_p.H202D|PMEL_ENST00000536427.1_Missense_Mutation_p.H202D			P40967	PMEL_HUMAN	premelanosome protein	202					melanin biosynthetic process (GO:0042438)|melanosome organization (GO:0032438)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)|multivesicular body membrane (GO:0032585)|plasma membrane (GO:0005886)				NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GAGCTGGAATGAGCAAGAGGC	0.572																																						uc001sip.2		NaN																	0					0						c.(604-606)CAT>GAT		silver homolog							86.0	76.0	80.0					12																	56351734		2203	4300	6503	SO:0001583	missense	6490				melanin biosynthetic process|melanosome organization	endoplasmic reticulum membrane|extracellular region|Golgi apparatus|integral to membrane|melanosome|multivesicular body membrane|plasma membrane	protein binding	g.chr12:56351734G>C	AK092881	CCDS8897.1, CCDS55833.1, CCDS55834.1	12q13-q14	2010-12-17	2010-12-17	2010-12-17	ENSG00000185664	ENSG00000185664			10880	protein-coding gene	gene with protein product		155550	"""silver (mouse homolog) like"", ""silver homolog (mouse)"""	SIL, SILV		8739560	Standard	NM_001200053		Approved	D12S53E, SI, Pmel17, gp100	uc001siq.3	P40967		ENST00000548747.1:c.604C>G	12.37:g.56351734G>C	ENSP00000448828:p.His202Asp					SILV_uc001siq.2_Missense_Mutation_p.H202D|SILV_uc010spx.1_Missense_Mutation_p.H116D|SILV_uc001sir.2_Missense_Mutation_p.H202D	p.H202D	NM_006928	NP_008859	P40967	PMEL_HUMAN			5	635	-			202					B3KS57|B7Z6D7|Q12763|Q14448|Q14817|Q16565	Missense_Mutation	SNP	ENST00000548747.1	37	c.604C>G	CCDS8897.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.19|12.19	1.863488|1.863488	0.32884|0.32884	.|.	.|.	ENSG00000185664|ENSG00000185664	ENST00000449260;ENST00000552882;ENST00000550464;ENST00000548747;ENST00000548493;ENST00000360714;ENST00000536427;ENST00000539511;ENST00000546543|ENST00000549404	T;T;T;T;T;T;T;T;T|.	0.11169|.	3.14;3.16;3.15;3.16;3.16;3.14;2.8;3.15;3.16|.	4.68|4.68	1.9|1.9	0.25705|0.25705	.|.	0.491983|.	0.19163|.	N|.	0.121125|.	T|.	0.46151|.	0.1378|.	L|L	0.56769|0.56769	1.78|1.78	0.32400|0.32400	N|N	0.55208|0.55208	P;P;P|.	0.47762|.	0.9;0.646;0.704|.	B;B;B|.	0.42522|.	0.39;0.292;0.152|.	T|.	0.52771|.	-0.8531|.	10|.	0.49607|.	T|.	0.09|.	-0.0853|-0.0853	4.9301|4.9301	0.13912|0.13912	0.2384:0.0:0.6102:0.1514|0.2384:0.0:0.6102:0.1514	.|.	116;202;202|.	P40967-3;P40967-2;P40967|.	.;.;PMEL_HUMAN|.	D|X	202;202;116;202;202;202;202;116;153|89	ENSP00000402758:H202D;ENSP00000449690:H202D;ENSP00000450036:H116D;ENSP00000448828:H202D;ENSP00000447374:H202D;ENSP00000353940:H202D;ENSP00000438695:H202D;ENSP00000445005:H116D;ENSP00000446662:H153D|.	ENSP00000353940:H202D|.	H|S	-|-	1|2	0|0	PMEL|PMEL	54638001|54638001	0.426000|0.426000	0.25506|0.25506	0.993000|0.993000	0.49108|0.49108	0.790000|0.790000	0.44656|0.44656	1.245000|1.245000	0.32790|0.32790	0.461000|0.461000	0.27071|0.27071	0.655000|0.655000	0.94253|0.94253	CAT|TCA		0.572	PMEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409626.1		NM_006928		31	50	0	0	0	1	0	31	50		
PMEL	6490	broad.mit.edu	37	12	56351767	56351767	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:56351767G>A	ENST00000548747.1	-	5	1233	c.571C>T	c.(571-573)Cgc>Tgc	p.R191C	PMEL_ENST00000548493.1_Missense_Mutation_p.R191C|PMEL_ENST00000550447.1_Intron|PMEL_ENST00000552882.1_Missense_Mutation_p.R191C|PMEL_ENST00000360714.4_Missense_Mutation_p.R191C|PMEL_ENST00000548689.1_5'UTR|PMEL_ENST00000539511.1_Missense_Mutation_p.R105C|PMEL_ENST00000550464.1_Missense_Mutation_p.R105C|PMEL_ENST00000449260.2_Missense_Mutation_p.R191C|PMEL_ENST00000536427.1_Missense_Mutation_p.R191C			P40967	PMEL_HUMAN	premelanosome protein	191					melanin biosynthetic process (GO:0042438)|melanosome organization (GO:0032438)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)|multivesicular body membrane (GO:0032585)|plasma membrane (GO:0005886)				NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GATCCCCGGCGATGGTAGACA	0.572																																						uc001sip.2		NaN																	0					0						c.(571-573)CGC>TGC		silver homolog							94.0	82.0	86.0					12																	56351767		2203	4300	6503	SO:0001583	missense	6490				melanin biosynthetic process|melanosome organization	endoplasmic reticulum membrane|extracellular region|Golgi apparatus|integral to membrane|melanosome|multivesicular body membrane|plasma membrane	protein binding	g.chr12:56351767G>A	AK092881	CCDS8897.1, CCDS55833.1, CCDS55834.1	12q13-q14	2010-12-17	2010-12-17	2010-12-17	ENSG00000185664	ENSG00000185664			10880	protein-coding gene	gene with protein product		155550	"""silver (mouse homolog) like"", ""silver homolog (mouse)"""	SIL, SILV		8739560	Standard	NM_001200053		Approved	D12S53E, SI, Pmel17, gp100	uc001siq.3	P40967		ENST00000548747.1:c.571C>T	12.37:g.56351767G>A	ENSP00000448828:p.Arg191Cys					SILV_uc001siq.2_Missense_Mutation_p.R191C|SILV_uc010spx.1_Missense_Mutation_p.R105C|SILV_uc001sir.2_Missense_Mutation_p.R191C	p.R191C	NM_006928	NP_008859	P40967	PMEL_HUMAN			5	602	-			191					B3KS57|B7Z6D7|Q12763|Q14448|Q14817|Q16565	Missense_Mutation	SNP	ENST00000548747.1	37	c.571C>T	CCDS8897.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.27|17.27	3.347687|3.347687	0.61183|0.61183	.|.	.|.	ENSG00000185664|ENSG00000185664	ENST00000449260;ENST00000552882;ENST00000550464;ENST00000548747;ENST00000548493;ENST00000360714;ENST00000536427;ENST00000539511;ENST00000546543|ENST00000549404	T;T;T;T;T;T;T;T;T|.	0.13420|.	2.95;2.95;3.01;2.95;2.95;2.96;2.59;3.01;3.02|.	4.68|4.68	3.79|3.79	0.43588|0.43588	.|.	0.805057|.	0.11156|.	N|.	0.593584|.	T|T	0.46678|0.46678	0.1405|0.1405	L|L	0.39898|0.39898	1.24|1.24	0.40640|0.40640	D|D	0.981935|0.981935	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;P|.	0.65874|.	0.939;0.939;0.869|.	T|T	0.40232|0.40232	-0.9574|-0.9574	10|5	0.56958|.	D|.	0.05|.	0.6678|0.6678	6.2753|6.2753	0.20977|0.20977	0.2717:0.0:0.7283:0.0|0.2717:0.0:0.7283:0.0	.|.	105;191;191|.	P40967-3;P40967-2;P40967|.	.;.;PMEL_HUMAN|.	C|L	191;191;105;191;191;191;191;105;142|78	ENSP00000402758:R191C;ENSP00000449690:R191C;ENSP00000450036:R105C;ENSP00000448828:R191C;ENSP00000447374:R191C;ENSP00000353940:R191C;ENSP00000438695:R191C;ENSP00000445005:R105C;ENSP00000446662:R142C|.	ENSP00000353940:R191C|.	R|S	-|-	1|2	0|0	PMEL|PMEL	54638034|54638034	1.000000|1.000000	0.71417|0.71417	0.987000|0.987000	0.45799|0.45799	0.781000|0.781000	0.44180|0.44180	3.580000|3.580000	0.53907|0.53907	1.567000|1.567000	0.49668|0.49668	0.655000|0.655000	0.94253|0.94253	CGC|TCG		0.572	PMEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409626.1		NM_006928		27	48	0	0	0	1	0	27	48		
SMARCC2	6601	broad.mit.edu	37	12	56565672	56565672	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:56565672C>T	ENST00000267064.4	-	20	1969	c.1883G>A	c.(1882-1884)gGa>gAa	p.G628E	SMARCC2_ENST00000347471.4_Missense_Mutation_p.G659E|SMARCC2_ENST00000550164.1_Missense_Mutation_p.G659E|SMARCC2_ENST00000394023.3_Missense_Mutation_p.G659E|RP11-977G19.5_ENST00000553176.1_RNA	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	628	SANT. {ECO:0000255|PROSITE- ProRule:PRU00624}.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			TGTGCGGCTTCCCACATGCTC	0.527																																						uc001skb.2		NaN																	0				lung(2)|central_nervous_system(2)|ovary(1)|skin(1)	6						c.(1882-1884)GGA>GAA		SWI/SNF-related matrix-associated							95.0	80.0	85.0					12																	56565672		2203	4300	6503	SO:0001583	missense	6601				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr12:56565672C>T	U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.1883G>A	12.37:g.56565672C>T	ENSP00000267064:p.Gly628Glu					SMARCC2_uc001skd.2_Missense_Mutation_p.G659E|SMARCC2_uc001ska.2_Missense_Mutation_p.G659E|SMARCC2_uc001skc.2_Missense_Mutation_p.G658E|SMARCC2_uc010sqf.1_Missense_Mutation_p.G548E	p.G628E	NM_003075	NP_003066	Q8TAQ2	SMRC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.123)		20	1989	-			628			SANT.		F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Missense_Mutation	SNP	ENST00000267064.4	37	c.1883G>A	CCDS8907.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.491003	0.84962	.	.	ENSG00000139613	ENST00000394023;ENST00000550164;ENST00000347471;ENST00000267064	T;T;T;T	0.55413	0.52;0.52;0.52;0.52	3.73	3.73	0.42828	Myb, DNA-binding (1);SANT domain, DNA binding (1);Homeodomain-related (1);Homeodomain-like (1);SANT, eukarya (1);	0.000000	0.85682	D	0.000000	T	0.74512	0.3726	M	0.84773	2.715	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.998;0.999;0.999;0.998	T	0.80400	-0.1398	10	0.87932	D	0	-9.0573	15.4916	0.75611	0.0:1.0:0.0:0.0	.	548;659;663;628;659	B4DF22;F8VTJ5;Q59G16;Q8TAQ2;Q8TAQ2-2	.;.;.;SMRC2_HUMAN;.	E	659;659;659;628	ENSP00000377591:G659E;ENSP00000449396:G659E;ENSP00000302919:G659E;ENSP00000267064:G628E	ENSP00000267064:G628E	G	-	2	0	SMARCC2	54851939	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.609000	0.82925	2.385000	0.81259	0.655000	0.94253	GGA		0.527	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408370.1				22	25	0	0	0	1	0	22	25		
TIMELESS	8914	broad.mit.edu	37	12	56817644	56817644	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:56817644G>C	ENST00000553532.1	-	16	2053	c.1903C>G	c.(1903-1905)Caa>Gaa	p.Q635E	TIMELESS_ENST00000229201.4_Missense_Mutation_p.Q634E|TIMELESS_ENST00000554616.1_Intron					timeless circadian clock											NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						GAAATGTCTTGAGAGCCAAAC	0.473																																						uc001slf.2		NaN																	0				ovary(5)|breast(2)|pancreas(1)	8						c.(1903-1905)CAA>GAA		timeless homolog							119.0	113.0	115.0					12																	56817644		2203	4300	6503	SO:0001583	missense	8914				cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin		g.chr12:56817644G>C	AF098162	CCDS8918.1	12q13.3	2012-12-14	2012-12-14		ENSG00000111602	ENSG00000111602			11813	protein-coding gene	gene with protein product	"""Tof1 homolog (S. cerevisiae)"", ""timeless circadian clock 1"""	603887	"""timeless (Drosophila) homolog"", ""timeless homolog (Drosophila)"""			9856465	Standard	NM_003920		Approved	hTIM, TIM, TIM1	uc001slf.2	Q9UNS1	OTTHUMG00000170600	ENST00000553532.1:c.1903C>G	12.37:g.56817644G>C	ENSP00000450607:p.Gln635Glu						p.Q635E	NM_003920	NP_003911	Q9UNS1	TIM_HUMAN			16	2071	-			635						Missense_Mutation	SNP	ENST00000553532.1	37	c.1903C>G	CCDS8918.1	.	.	.	.	.	.	.	.	.	.	G	2.402	-0.337352	0.05278	.	.	ENSG00000111602	ENST00000229201;ENST00000553532	T;T	0.05786	3.39;3.39	5.26	3.34	0.38264	.	0.547216	0.18633	N	0.135528	T	0.04227	0.0117	N	0.19112	0.55	0.80722	D	1	B	0.15473	0.013	B	0.13407	0.009	T	0.43048	-0.9415	10	0.18276	T	0.48	-0.2226	8.9307	0.35668	0.0801:0.4407:0.4791:0.0	.	635	Q9UNS1	TIM_HUMAN	E	634;635	ENSP00000229201:Q634E;ENSP00000450607:Q635E	ENSP00000229201:Q635E	Q	-	1	0	TIMELESS	55103911	0.994000	0.37717	1.000000	0.80357	0.980000	0.70556	1.003000	0.29809	0.658000	0.30925	0.561000	0.74099	CAA		0.473	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409771.1		NM_003920		32	52	0	0	0	1	0	32	52		
TIMELESS	8914	broad.mit.edu	37	12	56818562	56818562	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:56818562G>C	ENST00000553532.1	-	15	2002	c.1852C>G	c.(1852-1854)Ctc>Gtc	p.L618V	TIMELESS_ENST00000229201.4_Missense_Mutation_p.L617V|TIMELESS_ENST00000554616.1_Intron					timeless circadian clock											NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						GACCTCAGGAGAGTCAGGGCC	0.597																																						uc001slf.2		NaN																	0				ovary(5)|breast(2)|pancreas(1)	8						c.(1852-1854)CTC>GTC		timeless homolog							69.0	67.0	68.0					12																	56818562		2203	4300	6503	SO:0001583	missense	8914				cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin		g.chr12:56818562G>C	AF098162	CCDS8918.1	12q13.3	2012-12-14	2012-12-14		ENSG00000111602	ENSG00000111602			11813	protein-coding gene	gene with protein product	"""Tof1 homolog (S. cerevisiae)"", ""timeless circadian clock 1"""	603887	"""timeless (Drosophila) homolog"", ""timeless homolog (Drosophila)"""			9856465	Standard	NM_003920		Approved	hTIM, TIM, TIM1	uc001slf.2	Q9UNS1	OTTHUMG00000170600	ENST00000553532.1:c.1852C>G	12.37:g.56818562G>C	ENSP00000450607:p.Leu618Val						p.L618V	NM_003920	NP_003911	Q9UNS1	TIM_HUMAN			15	2020	-			618						Missense_Mutation	SNP	ENST00000553532.1	37	c.1852C>G	CCDS8918.1	.	.	.	.	.	.	.	.	.	.	G	17.55	3.417942	0.62622	.	.	ENSG00000111602	ENST00000229201;ENST00000553532	T;T	0.16073	2.37;2.37	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.44138	0.1279	M	0.81497	2.545	0.80722	D	1	D	0.69078	0.997	P	0.61201	0.885	T	0.36696	-0.9737	10	0.72032	D	0.01	-14.5957	18.933	0.92574	0.0:0.0:1.0:0.0	.	618	Q9UNS1	TIM_HUMAN	V	617;618	ENSP00000229201:L617V;ENSP00000450607:L618V	ENSP00000229201:L618V	L	-	1	0	TIMELESS	55104829	1.000000	0.71417	0.902000	0.35471	0.598000	0.36846	4.625000	0.61262	2.848000	0.98002	0.655000	0.94253	CTC		0.597	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409771.1		NM_003920		38	57	0	0	0	1	0	38	57		
DPY19L2	283417	broad.mit.edu	37	12	64061860	64061860	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:64061860G>C	ENST00000324472.4	-	1	497	c.314C>G	c.(313-315)tCc>tGc	p.S105C	RP11-415I12.3_ENST00000509615.2_RNA	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	105					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		GGTTCTGCTGGAGAACCGCCG	0.592																																						uc001srp.1		NaN																	0				central_nervous_system(1)|skin(1)	2						c.(313-315)TCC>TGC		dpy-19-like 2							47.0	51.0	50.0					12																	64061860		2202	4299	6501	SO:0001583	missense	283417				multicellular organismal development|spermatid development	integral to membrane		g.chr12:64061860G>C		CCDS31851.1	12q14.2	2012-11-14			ENSG00000177990	ENSG00000177990			19414	protein-coding gene	gene with protein product	"""spermatogenesis associated 34"""	613893				12975309	Standard	XM_006719348		Approved	FLJ32949, SPATA34	uc001srp.1	Q6NUT2	OTTHUMG00000168712	ENST00000324472.4:c.314C>G	12.37:g.64061860G>C	ENSP00000315988:p.Ser105Cys					DPY19L2_uc009zqk.1_RNA	p.S105C	NM_173812	NP_776173	Q6NUT2	D19L2_HUMAN	GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)	1	495	-			105					A4FVC1|B4E191|Q3ZCX2|Q6UWG8|Q96LZ9	Missense_Mutation	SNP	ENST00000324472.4	37	c.314C>G	CCDS31851.1	.	.	.	.	.	.	.	.	.	.	G	10.28	1.305757	0.23736	.	.	ENSG00000177990	ENST00000324472	T	0.43688	0.94	1.75	-0.325	0.12702	.	4.790260	0.00817	U	0.001555	T	0.27967	0.0689	N	0.24115	0.695	0.09310	N	1	P	0.45078	0.85	B	0.40101	0.319	T	0.11397	-1.0589	9	.	.	.	.	3.012	0.06047	0.1931:0.2898:0.5171:0.0	.	105	Q6NUT2	D19L2_HUMAN	C	105	ENSP00000315988:S105C	.	S	-	2	0	DPY19L2	62348127	0.000000	0.05858	0.000000	0.03702	0.086000	0.17979	0.355000	0.20163	-0.107000	0.12088	0.195000	0.17529	TCC		0.592	DPY19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400689.2		NM_173812		45	51	0	0	0	1	0	45	51		
HELB	92797	broad.mit.edu	37	12	66698778	66698778	+	Nonsense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:66698778C>G	ENST00000247815.4	+	2	514	c.455C>G	c.(454-456)tCa>tGa	p.S152*		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	152					DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication, synthesis of RNA primer (GO:0006269)		ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|single-stranded DNA-dependent ATP-dependent DNA helicase activity (GO:0017116)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		AAGGAGGTATCAAACTACAAA	0.358																																						uc001sti.2		NaN																	0				central_nervous_system(1)|pancreas(1)	2						c.(454-456)TCA>TGA		helicase (DNA) B							67.0	66.0	67.0					12																	66698778		2203	4300	6503	SO:0001587	stop_gained	92797				DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity	g.chr12:66698778C>G	AF319995	CCDS8976.1	12q14.2	2009-01-15			ENSG00000127311	ENSG00000127311			17196	protein-coding gene	gene with protein product		614539				12181327	Standard	NM_033647		Approved		uc001sti.3	Q8NG08	OTTHUMG00000169006	ENST00000247815.4:c.455C>G	12.37:g.66698778C>G	ENSP00000247815:p.Ser152*					HELB_uc010ssz.1_RNA|HELB_uc009zqt.1_RNA	p.S152*	NM_033647	NP_387467	Q8NG08	HELB_HUMAN	GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)	2	483	+			152					A8K4C9|Q4G0T2|Q9H7L5	Nonsense_Mutation	SNP	ENST00000247815.4	37	c.455C>G	CCDS8976.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.367760	0.82463	.	.	ENSG00000127311	ENST00000247815	.	.	.	5.24	4.35	0.52113	.	0.388554	0.24357	N	0.039231	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-9.0674	13.8018	0.63204	0.0:0.9261:0.0:0.0739	.	.	.	.	X	152	.	.	S	+	2	0	HELB	64985045	0.641000	0.27251	0.113000	0.21522	0.011000	0.07611	3.214000	0.51161	1.201000	0.43203	0.455000	0.32223	TCA		0.358	HELB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401919.1				22	48	0	0	0	1	0	22	48		
CCT2	10576	broad.mit.edu	37	12	69991012	69991012	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:69991012G>T	ENST00000299300.6	+	11	1247	c.1059G>T	c.(1057-1059)atG>atT	p.M353I	CCT2_ENST00000544368.2_Missense_Mutation_p.M353I|CCT2_ENST00000543146.2_Missense_Mutation_p.M306I	NM_006431.2	NP_006422.1	P78371	TCPB_HUMAN	chaperonin containing TCP1, subunit 2 (beta)	353					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|protein folding (GO:0006457)	cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1)	24	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			AGGAAGTCATGATTGGAGAAG	0.413																																						uc001svb.1		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1057-1059)ATG>ATT		chaperonin containing TCP1, subunit 2							249.0	228.0	235.0					12																	69991012		2203	4300	6503	SO:0001583	missense	10576				'de novo' posttranslational protein folding	nucleus	ATP binding|unfolded protein binding	g.chr12:69991012G>T	AF026293	CCDS8991.1, CCDS55843.1	12q14	2011-09-02						"""Heat Shock Proteins / Chaperonins"""	1615	protein-coding gene	gene with protein product		605139				9819444	Standard	NM_001198842		Approved	Cctb	uc001svb.1	P78371	OTTHUMG00000169383	ENST00000299300.6:c.1059G>T	12.37:g.69991012G>T	ENSP00000299300:p.Met353Ile					CCT2_uc009zrm.1_RNA|CCT2_uc009zrn.1_Missense_Mutation_p.M353I|CCT2_uc010stl.1_Missense_Mutation_p.M306I	p.M353I	NM_006431	NP_006422	P78371	TCPB_HUMAN	Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)		11	1153	+	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		353					A8K402|B5BTY7|B7Z243|B7Z7K4|B7ZAT2|Q14D36|Q6IAT3	Missense_Mutation	SNP	ENST00000299300.6	37	c.1059G>T	CCDS8991.1	.	.	.	.	.	.	.	.	.	.	G	16.97	3.267748	0.59540	.	.	ENSG00000166226	ENST00000299300;ENST00000544368;ENST00000543146	T;T;T	0.77620	-1.11;-1.11;-1.11	6.16	6.16	0.99307	.	0.037181	0.85682	D	0.000000	T	0.73094	0.3543	L	0.43646	1.37	0.80722	D	1	B;B	0.10296	0.003;0.0	B;B	0.16722	0.016;0.011	T	0.64744	-0.6335	9	.	.	.	-20.3711	19.0403	0.92995	0.0:0.0:1.0:0.0	.	353;353	F5GWF6;P78371	.;TCPB_HUMAN	I	353;353;306	ENSP00000299300:M353I;ENSP00000441847:M353I;ENSP00000445471:M306I	.	M	+	3	0	CCT2	68277279	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.468000	0.97676	2.937000	0.99478	0.650000	0.86243	ATG		0.413	CCT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403818.1		NM_006431		83	108	1	0	7.63117e-38	1	8.63282e-38	83	108		
ZFC3H1	196441	broad.mit.edu	37	12	72017272	72017272	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:72017272G>C	ENST00000378743.3	-	24	4970	c.4612C>G	c.(4612-4614)Ctc>Gtc	p.L1538V		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	1538					RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TTTGAAGGGAGAATGTTGAAT	0.343																																						uc001swo.2		NaN																	0				ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5						c.(4612-4614)CTC>GTC		proline/serine-rich coiled-coil 2							115.0	106.0	109.0					12																	72017272		1849	4088	5937	SO:0001583	missense	196441				RNA processing	intracellular	metal ion binding	g.chr12:72017272G>C	AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"""Zinc finger, C3H1-type containing"""	28328	protein-coding gene	gene with protein product			"""proline/serine-rich coiled-coil 2"", ""coiled-coil domain containing 131"""	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.4612C>G	12.37:g.72017272G>C	ENSP00000368017:p.Leu1538Val						p.L1538V	NM_144982	NP_659419	O60293	ZC3H1_HUMAN			24	4971	-			1538					Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Missense_Mutation	SNP	ENST00000378743.3	37	c.4612C>G	CCDS41813.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.158508	0.78114	.	.	ENSG00000133858	ENST00000378743	T	0.37752	1.18	4.98	4.98	0.66077	.	0.000000	0.64402	D	0.000002	T	0.52092	0.1713	L	0.36672	1.1	0.80722	D	1	D	0.69078	0.997	D	0.78314	0.991	T	0.55717	-0.8097	10	0.72032	D	0.01	.	18.2547	0.90015	0.0:0.0:1.0:0.0	.	1538	O60293	ZC3H1_HUMAN	V	1538	ENSP00000368017:L1538V	ENSP00000368017:L1538V	L	-	1	0	ZFC3H1	70303539	1.000000	0.71417	0.979000	0.43373	0.970000	0.65996	8.485000	0.90448	2.305000	0.77605	0.563000	0.77884	CTC		0.343	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1		NM_144982		7	119	0	0	0	1	0	7	119		
BBS10	79738	broad.mit.edu	37	12	76740913	76740913	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:76740913C>G	ENST00000393262.3	-	2	935	c.852G>C	c.(850-852)caG>caC	p.Q284H		NM_024685.3	NP_078961.3	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10	284					cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|regulation of protein complex assembly (GO:0043254)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	cell projection (GO:0042995)	ATP binding (GO:0005524)|RNA polymerase II repressing transcription factor binding (GO:0001103)			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						ATTGAGATGTCTGAAACTGTG	0.348									Bardet-Biedl syndrome																													uc001syd.1		NaN																	0				ovary(1)|skin(1)	2						c.(850-852)CAG>CAC		Bardet-Biedl syndrome 10							75.0	66.0	69.0					12																	76740913		2203	4300	6503	SO:0001583	missense	79738	Bardet-Biedl_syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	cilium	ATP binding	g.chr12:76740913C>G	BC026355	CCDS9014.2	12q21.2	2014-06-17	2006-04-28	2006-04-28	ENSG00000179941	ENSG00000179941		"""Heat Shock Proteins / Chaperonins"""	26291	protein-coding gene	gene with protein product		610148	"""chromosome 12 open reading frame 58"""	C12orf58		16582908	Standard	NM_024685		Approved	FLJ23560	uc001syd.1	Q8TAM1	OTTHUMG00000147352	ENST00000393262.3:c.852G>C	12.37:g.76740913C>G	ENSP00000376946:p.Gln284His						p.Q284H	NM_024685	NP_078961	Q8TAM1	BBS10_HUMAN			2	936	-			284					Q96CW2|Q9H5D2	Missense_Mutation	SNP	ENST00000393262.3	37	c.852G>C	CCDS9014.2	.	.	.	.	.	.	.	.	.	.	C	12.56	1.975694	0.34848	.	.	ENSG00000179941	ENST00000393262	T	0.78924	-1.22	5.13	3.24	0.37175	.	0.561057	0.18356	N	0.143708	T	0.69115	0.3075	L	0.46741	1.465	0.29217	N	0.874192	P	0.34462	0.454	B	0.34931	0.192	T	0.61816	-0.6985	10	0.31617	T	0.26	-1.3525	9.7273	0.40339	0.0:0.7686:0.1447:0.0866	.	284	Q8TAM1	BBS10_HUMAN	H	284	ENSP00000376946:Q284H	ENSP00000376946:Q284H	Q	-	3	2	BBS10	75265044	0.997000	0.39634	1.000000	0.80357	0.994000	0.84299	0.509000	0.22707	0.813000	0.34350	-0.247000	0.11927	CAG		0.348	BBS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303983.2		NM_024685		16	20	0	0	0	1	0	16	20		
SYT1	6857	broad.mit.edu	37	12	79837968	79837968	+	Silent	SNP	A	A	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:79837968A>C	ENST00000261205.4	+	10	1701	c.1044A>C	c.(1042-1044)gtA>gtC	p.V348V	SYT1_ENST00000457153.2_Silent_p.V345V|SYT1_ENST00000552744.1_Silent_p.V348V|RP1-78O14.1_ENST00000550268.1_lincRNA|SYT1_ENST00000393240.3_Silent_p.V348V	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	348	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.|Phospholipid binding. {ECO:0000305}.				calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|detection of calcium ion (GO:0005513)|glutamate secretion (GO:0014047)|neurotransmitter secretion (GO:0007269)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|positive regulation of synaptic transmission (GO:0050806)|positive regulation of vesicle fusion (GO:0031340)|protein homooligomerization (GO:0051260)|regulation of exocytosis (GO:0017157)|regulation of regulated secretory pathway (GO:1903305)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|vesicle docking (GO:0048278)	cell junction (GO:0030054)|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)|dense core granule (GO:0031045)|endocytic vesicle membrane (GO:0030666)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	1-phosphatidylinositol binding (GO:0005545)|calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|transporter activity (GO:0005215)			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						GCTTTGAAGTACCTTTTGAAC	0.353																																						uc001sys.2		NaN																	0				skin(3)|pancreas(2)|ovary(1)	6						c.(1042-1044)GTA>GTC		synaptotagmin I							181.0	165.0	171.0					12																	79837968		2203	4300	6503	SO:0001819	synonymous_variant	6857				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|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|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity	g.chr12:79837968A>C		CCDS9017.1	12q21.2	2013-09-20			ENSG00000067715	ENSG00000067715		"""Synaptotagmins"""	11509	protein-coding gene	gene with protein product		185605		SYT, SVP65		1840599	Standard	NM_001135805		Approved	P65	uc001syv.3	P21579	OTTHUMG00000134326	ENST00000261205.4:c.1044A>C	12.37:g.79837968A>C						SYT1_uc001syt.2_Silent_p.V348V|SYT1_uc001syu.2_Silent_p.V345V|SYT1_uc001syv.2_Silent_p.V348V	p.V348V	NM_001135805	NP_001129277	P21579	SYT1_HUMAN			11	1715	+			348			Cytoplasmic (Potential).|Phospholipid binding (Probable).|C2 2.		Q6AI31	Silent	SNP	ENST00000261205.4	37	c.1044A>C	CCDS9017.1																																																																																				0.353	SYT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259415.1		NM_005639		27	183	0	0	0	1	0	27	183		
PPP1R12A	4659	broad.mit.edu	37	12	80266706	80266706	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:80266706C>G	ENST00000450142.2	-	2	516	c.250G>C	c.(250-252)Gac>Cac	p.D84H	PPP1R12A_ENST00000546369.1_5'UTR|PPP1R12A_ENST00000261207.5_Missense_Mutation_p.D84H|PPP1R12A_ENST00000437004.2_Missense_Mutation_p.D84H|PPP1R12A_ENST00000550107.1_Missense_Mutation_p.D84H	NM_002480.2	NP_002471.1	O14974	MYPT1_HUMAN	protein phosphatase 1, regulatory subunit 12A	84					centrosome organization (GO:0051297)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of catalytic activity (GO:0043086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of myosin-light-chain-phosphatase activity (GO:0035507)|regulation of nucleocytoplasmic transport (GO:0046822)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|contractile fiber (GO:0043292)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|PTW/PP1 phosphatase complex (GO:0072357)	14-3-3 protein binding (GO:0071889)|enzyme inhibitor activity (GO:0004857)|phosphatase regulator activity (GO:0019208)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1)	29						TCAACATTGTCATCAATGCAA	0.343																																						uc001syz.2		NaN																	0				ovary(2)|breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	7						c.(250-252)GAC>CAC		protein phosphatase 1, regulatory (inhibitor)							79.0	71.0	74.0					12																	80266706		1844	4134	5978	SO:0001583	missense	4659					contractile fiber	protein binding|signal transducer activity	g.chr12:80266706C>G	D87930	CCDS44947.1, CCDS44948.1, CCDS58259.1, CCDS58260.1	12q15-q21	2013-01-18	2011-10-04	2001-08-10	ENSG00000058272	ENSG00000058272		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	7618	protein-coding gene	gene with protein product	"""myosin phosphatase-targeting subunit 1"", ""myosin binding subunit"""	602021	"""protein phosphatase 1, regulatory (inhibitor) subunit 12A"""	MYPT1		9286714	Standard	NM_002480		Approved	MBS, M130	uc001syz.3	O14974	OTTHUMG00000170100	ENST00000450142.2:c.250G>C	12.37:g.80266706C>G	ENSP00000389168:p.Asp84His					PPP1R12A_uc010suc.1_5'UTR|PPP1R12A_uc001sza.2_Missense_Mutation_p.D84H|PPP1R12A_uc010sud.1_Missense_Mutation_p.D84H|PPP1R12A_uc001szb.2_Missense_Mutation_p.D84H|PPP1R12A_uc001szc.2_Missense_Mutation_p.D84H	p.D84H	NM_002480	NP_002471	O14974	MYPT1_HUMAN			2	517	-			84			ANK 2.		B4DZ09|F8VWB4|Q2NKL4|Q569H0|Q86WU3|Q8NFR6|Q9BYH0	Missense_Mutation	SNP	ENST00000450142.2	37	c.250G>C	CCDS44947.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.463921	0.84425	.	.	ENSG00000058272	ENST00000261207;ENST00000546189;ENST00000360825;ENST00000341878;ENST00000312727;ENST00000450142;ENST00000437004;ENST00000550107;ENST00000547330;ENST00000550510	T;T;T;T;T;T	0.54479	0.57;0.57;0.57;0.57;0.57;0.57	5.02	5.02	0.67125	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.64778	0.2629	L	0.35593	1.075	0.80722	D	1	D;P;D;D	0.89917	1.0;0.952;1.0;1.0	D;D;D;D	0.91635	0.994;0.955;0.997;0.999	T	0.68311	-0.5442	10	0.72032	D	0.01	.	18.7121	0.91661	0.0:1.0:0.0:0.0	.	84;84;84;84	F8W8Q6;O14974-2;O14974-3;O14974	.;.;.;MYPT1_HUMAN	H	84;84;84;84;84;84;84;84;84;12	ENSP00000261207:D84H;ENSP00000389168:D84H;ENSP00000416769:D84H;ENSP00000446855:D84H;ENSP00000446816:D84H;ENSP00000447338:D12H	ENSP00000261207:D84H	D	-	1	0	PPP1R12A	78790837	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.870000	0.69620	2.478000	0.83669	0.585000	0.79938	GAC		0.343	PPP1R12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407254.2		NM_002480		4	30	0	0	0	1	0	4	30		
ACSS3	79611	broad.mit.edu	37	12	81647169	81647169	+	Silent	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:81647169C>G	ENST00000548058.1	+	14	2713	c.1803C>G	c.(1801-1803)ctC>ctG	p.L601L	ACSS3_ENST00000261206.3_Silent_p.L600L|ACSS3_ENST00000548324.1_Silent_p.L283L			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	601						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						CCTTAGCACTCTGTGTATTGA	0.428																																						uc001szl.1		NaN																	0				ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4						c.(1801-1803)CTC>CTG		acyl-CoA synthetase short-chain family member 3							205.0	200.0	201.0					12																	81647169		2203	4300	6503	SO:0001819	synonymous_variant	79611					mitochondrion	acetate-CoA ligase activity|ATP binding	g.chr12:81647169C>G		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.1803C>G	12.37:g.81647169C>G						ACSS3_uc001szm.1_Silent_p.L600L|ACSS3_uc001szn.1_Silent_p.L283L	p.L601L	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN			14	1894	+			601					Q8NC66	Silent	SNP	ENST00000548058.1	37	c.1803C>G	CCDS9022.1																																																																																				0.428	ACSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407794.1		NM_024560		37	161	0	0	0	1	0	37	161		
LRRIQ1	84125	broad.mit.edu	37	12	85449499	85449499	+	Missense_Mutation	SNP	C	C	A	rs201694390		TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:85449499C>A	ENST00000393217.2	+	8	989	c.928C>A	c.(928-930)Caa>Aaa	p.Q310K		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	310	Glu-rich.|IQ 1. {ECO:0000255|PROSITE- ProRule:PRU00116}.									breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TATTAAAGAGCAAATTGAAAG	0.318																																						uc001tac.2		NaN																	0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(928-930)CAA>AAA		leucine-rich repeats and IQ motif containing 1							30.0	32.0	31.0					12																	85449499		2198	4291	6489	SO:0001583	missense	84125							g.chr12:85449499C>A	AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.928C>A	12.37:g.85449499C>A	ENSP00000376910:p.Gln310Lys					LRRIQ1_uc001tab.1_Missense_Mutation_p.Q310K|LRRIQ1_uc001taa.1_Missense_Mutation_p.Q285K	p.Q310K	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN		GBM - Glioblastoma multiforme(134;0.212)	8	1039	+			310			IQ 1.|Glu-rich.		Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	ENST00000393217.2	37	c.928C>A	CCDS41816.1	.	.	.	.	.	.	.	.	.	.	C	1.332	-0.596556	0.03771	.	.	ENSG00000133640	ENST00000256007;ENST00000378580;ENST00000393217	T	0.50277	0.75	5.27	3.4	0.38934	.	0.785759	0.11319	N	0.576233	T	0.34424	0.0897	L	0.40543	1.245	0.09310	N	1	B;B	0.30406	0.024;0.278	B;B	0.24974	0.005;0.057	T	0.19778	-1.0295	10	0.38643	T	0.18	.	5.5332	0.16997	0.1783:0.6699:0.0:0.1518	.	310;285	Q96JM4;C9JI57	LRIQ1_HUMAN;.	K	310;285;310	ENSP00000376910:Q310K	ENSP00000256007:Q310K	Q	+	1	0	LRRIQ1	83973630	0.210000	0.23517	0.798000	0.32154	0.106000	0.19336	0.254000	0.18314	1.195000	0.43115	0.313000	0.20887	CAA		0.318	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2		NM_032165		6	35	1	0	5.9392e-07	1	6.22056e-07	6	35		
LRRIQ1	84125	broad.mit.edu	37	12	85517896	85517896	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:85517896G>A	ENST00000393217.2	+	17	3667	c.3606G>A	c.(3604-3606)aaG>aaA	p.K1202K		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1202										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		ATTATTTTAAGAAATTGATGA	0.333																																						uc001tac.2		NaN																	0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(3604-3606)AAG>AAA		leucine-rich repeats and IQ motif containing 1							60.0	63.0	62.0					12																	85517896		2203	4300	6503	SO:0001819	synonymous_variant	84125							g.chr12:85517896G>A	AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.3606G>A	12.37:g.85517896G>A						LRRIQ1_uc001tab.1_Silent_p.K1202K	p.K1202K	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN		GBM - Glioblastoma multiforme(134;0.212)	17	3717	+			1202					Q567P4|Q9BS17|Q9HA36	Silent	SNP	ENST00000393217.2	37	c.3606G>A	CCDS41816.1																																																																																				0.333	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2		NM_032165		12	54	0	0	0	1	0	12	54		
MGAT4C	25834	broad.mit.edu	37	12	86374166	86374166	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:86374166C>A	ENST00000604798.1	-	8	1542	c.338G>T	c.(337-339)gGa>gTa	p.G113V	MGAT4C_ENST00000393205.2_Missense_Mutation_p.G142V|MGAT4C_ENST00000549405.2_Missense_Mutation_p.G113V|MGAT4C_ENST00000332156.1_Missense_Mutation_p.G113V|MGAT4C_ENST00000552808.2_Missense_Mutation_p.G113V|MGAT4C_ENST00000548651.1_Missense_Mutation_p.G113V|MGAT4C_ENST00000552435.2_Intron			Q9UBM8	MGT4C_HUMAN	MGAT4 family, member C	113					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						TAAATAGTTTCCTTTTTTTCG	0.328																																						uc001tai.3		NaN																	0				ovary(3)	3						c.(337-339)GGA>GTA		alpha-1,3-mannosyl-glycoprotein							54.0	58.0	57.0					12																	86374166		2203	4300	6503	SO:0001583	missense	25834				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr12:86374166C>A		CCDS9030.1	12q21	2014-07-14	2014-07-14		ENSG00000182050	ENSG00000182050		"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	30871	protein-coding gene	gene with protein product		607385	"""mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)"""			10570912	Standard	NM_013244		Approved	HGNT-IV-H	uc001tal.4	Q9UBM8	OTTHUMG00000169846	ENST00000604798.1:c.338G>T	12.37:g.86374166C>A	ENSP00000474896:p.Gly113Val					MGAT4C_uc001tal.3_Missense_Mutation_p.G113V|MGAT4C_uc001taj.3_Missense_Mutation_p.G113V|MGAT4C_uc001tak.3_Missense_Mutation_p.G113V|MGAT4C_uc010sum.1_Missense_Mutation_p.G137V|MGAT4C_uc001tah.3_Missense_Mutation_p.G113V	p.G113V	NM_013244	NP_037376	Q9UBM8	MGT4C_HUMAN			8	1588	-			113			Lumenal (Potential).		B4DRH2|Q4G199|Q9UIU5	Missense_Mutation	SNP	ENST00000604798.1	37	c.338G>T	CCDS9030.1	.	.	.	.	.	.	.	.	.	.	C	19.79	3.893362	0.72524	.	.	ENSG00000182050	ENST00000332156;ENST00000393205;ENST00000549405;ENST00000550460;ENST00000552808;ENST00000548651;ENST00000547225	T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97	5.19	5.19	0.71726	.	0.060460	0.64402	D	0.000004	T	0.59335	0.2186	L	0.51914	1.62	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.993	T	0.51949	-0.8640	10	0.27082	T	0.32	-5.4808	19.086	0.93203	0.0:1.0:0.0:0.0	.	142;113	B4DRH2;Q9UBM8	.;MGT4C_HUMAN	V	113;142;113;113;113;113;113	ENSP00000331664:G113V;ENSP00000376900:G142V;ENSP00000449022:G113V;ENSP00000446647:G113V;ENSP00000447253:G113V;ENSP00000449172:G113V	ENSP00000331664:G113V	G	-	2	0	MGAT4C	84898297	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.772000	0.85439	2.565000	0.86533	0.591000	0.81541	GGA		0.328	MGAT4C-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406212.2		NM_013244		21	21	1	0	8.34094e-07	1	8.70917e-07	21	21		
NEDD1	121441	broad.mit.edu	37	12	97331111	97331111	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:97331111C>G	ENST00000266742.4	+	9	1396	c.1057C>G	c.(1057-1059)Cta>Gta	p.L353V	NEDD1_ENST00000457368.2_Missense_Mutation_p.L264V|NEDD1_ENST00000411739.2_Missense_Mutation_p.L264V|NEDD1_ENST00000557644.1_Missense_Mutation_p.L360V|NEDD1_ENST00000429527.2_Missense_Mutation_p.L353V	NM_152905.3	NP_690869.1	Q8NHV4	NEDD1_HUMAN	neural precursor cell expressed, developmentally down-regulated 1	353					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	apical part of cell (GO:0045177)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|pericentriolar material (GO:0000242)|spindle pole (GO:0000922)				breast(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)	22						TGCCACAGTTCTACCACAACC	0.428																																						uc001teu.3		NaN																	0					0						c.(1057-1059)CTA>GTA		neural precursor cell expressed, developmentally							169.0	145.0	153.0					12																	97331111		2203	4300	6503	SO:0001583	missense	121441				cell division|G2/M transition of mitotic cell cycle|mitosis	cytosol		g.chr12:97331111C>G		CCDS9063.1, CCDS44955.1, CCDS44956.1	12q23.1	2013-01-10			ENSG00000139350	ENSG00000139350		"""WD repeat domain containing"""	7723	protein-coding gene	gene with protein product		600372					Standard	NM_001135175		Approved	GCP-WD, TUBGCP7	uc001tev.4	Q8NHV4	OTTHUMG00000170604	ENST00000266742.4:c.1057C>G	12.37:g.97331111C>G	ENSP00000266742:p.Leu353Val					NEDD1_uc001tev.3_Missense_Mutation_p.L353V|NEDD1_uc010svc.1_Missense_Mutation_p.L264V|NEDD1_uc001tew.2_Missense_Mutation_p.L360V|NEDD1_uc001tex.2_Missense_Mutation_p.L264V	p.L353V	NM_152905	NP_690869	Q8NHV4	NEDD1_HUMAN			9	1396	+			353					B0AZN0|B4E145|G3V3F1|Q8NA30	Missense_Mutation	SNP	ENST00000266742.4	37	c.1057C>G	CCDS9063.1	.	.	.	.	.	.	.	.	.	.	C	10.06	1.246252	0.22796	.	.	ENSG00000139350	ENST00000266742;ENST00000429527;ENST00000411739;ENST00000557644;ENST00000457368	T;T;T;T;T	0.47528	0.84;0.84;1.63;0.84;1.63	5.65	2.37	0.29283	.	1.088790	0.06829	N	0.793644	T	0.30230	0.0758	N	0.17082	0.46	0.09310	N	1	B;B	0.10296	0.003;0.001	B;B	0.16289	0.015;0.005	T	0.18999	-1.0319	10	0.15066	T	0.55	.	8.1027	0.30868	0.0:0.6026:0.306:0.0914	.	360;353	G3V3F1;Q8NHV4	.;NEDD1_HUMAN	V	353;353;264;360;264	ENSP00000266742:L353V;ENSP00000404978:L353V;ENSP00000411307:L264V;ENSP00000451211:L360V;ENSP00000407964:L264V	ENSP00000266742:L353V	L	+	1	2	NEDD1	95855242	0.000000	0.05858	0.009000	0.14445	0.026000	0.11368	0.524000	0.22940	1.334000	0.45468	0.591000	0.81541	CTA		0.428	NEDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409792.1				20	114	0	0	0	1	0	20	114		
UTP20	27340	broad.mit.edu	37	12	101776903	101776903	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:101776903G>C	ENST00000261637.4	+	59	7915	c.7741G>C	c.(7741-7743)Gac>Cac	p.D2581H		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	2581					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						GATAAAAGAAGACCTGGAAGA	0.418																																						uc001tia.1		NaN																	0				ovary(2)|breast(2)	4						c.(7741-7743)GAC>CAC		down-regulated in metastasis							63.0	70.0	67.0					12																	101776903		2203	4300	6503	SO:0001583	missense	27340				endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding	g.chr12:101776903G>C	AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"""down regulated in metastasis"""	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.7741G>C	12.37:g.101776903G>C	ENSP00000261637:p.Asp2581His						p.D2581H	NM_014503	NP_055318	O75691	UTP20_HUMAN			59	7897	+			2581					Q9H3H4	Missense_Mutation	SNP	ENST00000261637.4	37	c.7741G>C	CCDS9081.1	.	.	.	.	.	.	.	.	.	.	G	11.57	1.678152	0.29783	.	.	ENSG00000120800	ENST00000261637	T	0.04970	3.52	5.04	3.15	0.36227	.	0.542622	0.20052	N	0.100273	T	0.03263	0.0095	N	0.08118	0	0.09310	N	1	P	0.36495	0.556	B	0.34038	0.174	T	0.39961	-0.9588	10	0.56958	D	0.05	-0.5815	7.8004	0.29170	0.075:0.0:0.6421:0.2829	.	2581	O75691	UTP20_HUMAN	H	2581	ENSP00000261637:D2581H	ENSP00000261637:D2581H	D	+	1	0	UTP20	100301034	0.508000	0.26154	0.019000	0.16419	0.025000	0.11179	3.581000	0.53914	1.080000	0.41073	0.579000	0.79373	GAC		0.418	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1		NM_014503		21	31	0	0	0	1	0	21	31		
CCDC53	51019	broad.mit.edu	37	12	102433677	102433677	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:102433677C>A	ENST00000240079.6	-	5	565	c.404G>T	c.(403-405)aGa>aTa	p.R135I	CCDC53_ENST00000545679.1_Missense_Mutation_p.R134I|CCDC53_ENST00000539515.1_5'UTR	NM_016053.2	NP_057137.1	Q9Y3C0	CCD53_HUMAN	coiled-coil domain containing 53	135						actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|WASH complex (GO:0071203)				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						TCTGGCATATCTTGGATCCTT	0.403																																						uc010svw.1		NaN																	0					0						c.(403-405)AGA>ATA		coiled-coil domain containing 53							223.0	210.0	214.0					12																	102433677		1867	4120	5987	SO:0001583	missense	51019					WASH complex	protein binding	g.chr12:102433677C>A	AF151874	CCDS44959.1, CCDS73512.1	12q23.3	2014-05-09			ENSG00000120860	ENSG00000120860			24256	protein-coding gene	gene with protein product						10810093, 20498093	Standard	XM_005268939		Approved	CGI-116	uc010svw.2	Q9Y3C0	OTTHUMG00000168187	ENST00000240079.6:c.404G>T	12.37:g.102433677C>A	ENSP00000240079:p.Arg135Ile					CCDC53_uc010svx.1_RNA|CCDC53_uc010svy.1_RNA|CCDC53_uc010svz.1_Missense_Mutation_p.R134I	p.R135I	NM_016053	NP_057137	Q9Y3C0	CCD53_HUMAN			5	563	-			135					B2RC74|Q53FF0|Q6IAI4|Q96QK0	Missense_Mutation	SNP	ENST00000240079.6	37	c.404G>T	CCDS44959.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.672973	0.88445	.	.	ENSG00000120860	ENST00000240079;ENST00000545679	.	.	.	5.82	5.82	0.92795	.	0.046024	0.85682	D	0.000000	D	0.83464	0.5260	M	0.85197	2.74	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.74674	0.973;0.984	D	0.84437	0.0580	9	0.52906	T	0.07	-16.3324	17.0794	0.86594	0.0:1.0:0.0:0.0	.	134;135	F5GZ97;Q9Y3C0	.;CCD53_HUMAN	I	135;134	.	ENSP00000240079:R135I	R	-	2	0	CCDC53	100957807	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.863000	0.69568	2.767000	0.95098	0.644000	0.83932	AGA		0.403	CCDC53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398685.1		NM_016053		60	67	1	0	8.72158e-25	1	9.81178e-25	60	67		
STAB2	55576	broad.mit.edu	37	12	104049332	104049332	+	Silent	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:104049332C>A	ENST00000388887.2	+	15	1911	c.1707C>A	c.(1705-1707)ggC>ggA	p.G569G	RP11-341G23.2_ENST00000551905.1_RNA	NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TGAAGGACGGCACTCTCGATT	0.453																																						uc001tjw.2		NaN																	0				ovary(9)|skin(5)	14						c.(1705-1707)GGC>GGA		stabilin 2 precursor							184.0	149.0	161.0					12																	104049332		2203	4300	6503	SO:0001819	synonymous_variant	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104049332C>A	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.1707C>A	12.37:g.104049332C>A							p.G569G	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN			15	1893	+			569			Extracellular (Potential).|FAS1 2.			Silent	SNP	ENST00000388887.2	37	c.1707C>A	CCDS31888.1																																																																																				0.453	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1				13	40	1	0	1.5842e-08	1	1.67477e-08	13	40		
STAB2	55576	broad.mit.edu	37	12	104142822	104142822	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:104142822G>A	ENST00000388887.2	+	59	6530	c.6326G>A	c.(6325-6327)aGc>aAc	p.S2109N	RP11-341G23.4_ENST00000551299.1_RNA	NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GTCTCCTGCAGCTGCCAGAAG	0.587																																						uc001tjw.2		NaN																	0				ovary(9)|skin(5)	14						c.(6325-6327)AGC>AAC		stabilin 2 precursor							74.0	69.0	71.0					12																	104142822		2203	4300	6503	SO:0001583	missense	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104142822G>A	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.6326G>A	12.37:g.104142822G>A	ENSP00000373539:p.Ser2109Asn					STAB2_uc009zug.2_RNA	p.S2109N	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN			59	6512	+			2109			Extracellular (Potential).|EGF-like 16.			Missense_Mutation	SNP	ENST00000388887.2	37	c.6326G>A	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	G	10.98	1.505747	0.26949	.	.	ENSG00000136011	ENST00000388887;ENST00000258495	D	0.90261	-2.64	5.29	4.34	0.51931	EGF domain, merozoite surface protein 1-like (1);Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	0.260763	0.42053	D	0.000770	D	0.83510	0.5270	L	0.29908	0.895	0.28753	N	0.901314	B	0.19935	0.04	B	0.23419	0.046	T	0.72750	-0.4199	10	0.27082	T	0.32	.	10.1494	0.42784	0.0747:0.2403:0.685:0.0	.	2109	Q8WWQ8	STAB2_HUMAN	N	2109;796	ENSP00000373539:S2109N	ENSP00000258495:S796N	S	+	2	0	STAB2	102666952	1.000000	0.71417	1.000000	0.80357	0.520000	0.34377	1.817000	0.39002	2.497000	0.84241	0.455000	0.32223	AGC		0.587	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1				22	62	0	0	0	1	0	22	62		
RIC8B	55188	broad.mit.edu	37	12	107209010	107209010	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:107209010G>C	ENST00000392839.2	+	3	775	c.669G>C	c.(667-669)gaG>gaC	p.E223D	RIC8B_ENST00000355478.2_Missense_Mutation_p.E183D|RIC8B_ENST00000549643.1_Intron|RIC8B_ENST00000392837.4_Missense_Mutation_p.E223D	NM_018157.2	NP_060627.2	Q9NVN3	RIC8B_HUMAN	RIC8 guanine nucleotide exchange factor B	223					regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	G-protein alpha-subunit binding (GO:0001965)|guanyl-nucleotide exchange factor activity (GO:0005085)			kidney(2)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	19						CACCTCAGGAGACAGACTGTG	0.478																																						uc001tlx.2		NaN																	0				ovary(1)	1						c.(667-669)GAG>GAC		resistance to inhibitors of cholinesterase 8							133.0	122.0	126.0					12																	107209010		2203	4300	6503	SO:0001583	missense	55188				regulation of G-protein coupled receptor protein signaling pathway	cell cortex|cytosol|plasma membrane	G-protein alpha-subunit binding|guanyl-nucleotide exchange factor activity	g.chr12:107209010G>C	AK128102	CCDS9109.2	12q23.3	2013-08-05	2013-08-05		ENSG00000111785	ENSG00000111785			25555	protein-coding gene	gene with protein product		609147	"""resistance to inhibitors of cholinesterase 8 homolog B (C. elegans)"""				Standard	XM_005268998		Approved	FLJ10620, hSyn, RIC8	uc001tlx.3	Q9NVN3	OTTHUMG00000144188	ENST00000392839.2:c.669G>C	12.37:g.107209010G>C	ENSP00000376583:p.Glu223Asp					RIC8B_uc001tlw.2_Missense_Mutation_p.E223D|RIC8B_uc001tly.2_Missense_Mutation_p.E183D|RIC8B_uc001tlz.2_RNA	p.E223D	NM_018157	NP_060627	Q9NVN3	RIC8B_HUMAN			3	794	+			223					A2RTZ0|Q4G103|Q6ZRN4|Q86WD3	Missense_Mutation	SNP	ENST00000392839.2	37	c.669G>C	CCDS9109.2	.	.	.	.	.	.	.	.	.	.	G	13.91	2.377311	0.42105	.	.	ENSG00000111785	ENST00000392837;ENST00000392839;ENST00000355478	T;T;T	0.40476	1.03;1.03;1.03	5.91	5.91	0.95273	Armadillo-type fold (1);	0.279809	0.46145	D	0.000316	T	0.39655	0.1086	L	0.43152	1.355	0.80722	D	1	B;B;B	0.19706	0.011;0.03;0.038	B;B;B	0.28011	0.02;0.085;0.069	T	0.27191	-1.0081	10	0.08381	T	0.77	-6.3042	20.2963	0.98556	0.0:0.0:1.0:0.0	.	183;223;223	Q9NVN3-3;Q9NVN3;B7WPL0	.;RIC8B_HUMAN;.	D	223;223;183	ENSP00000376582:E223D;ENSP00000376583:E223D;ENSP00000347662:E183D	ENSP00000347662:E183D	E	+	3	2	RIC8B	105733140	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.116000	0.50399	2.813000	0.96785	0.655000	0.94253	GAG		0.478	RIC8B-006	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000291398.2		NM_018157		47	72	0	0	0	1	0	47	72		
WSCD2	9671	broad.mit.edu	37	12	108603968	108603968	+	Missense_Mutation	SNP	G	G	T	rs368726337		TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:108603968G>T	ENST00000332082.4	+	5	1386	c.568G>T	c.(568-570)Gtg>Ttg	p.V190L	WSCD2_ENST00000261400.3_Missense_Mutation_p.V190L|WSCD2_ENST00000547525.1_Missense_Mutation_p.V190L|WSCD2_ENST00000549903.1_Missense_Mutation_p.V190L			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	190	WSC 1. {ECO:0000255|PROSITE- ProRule:PRU00558}.					integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						GGCGACGAACGTGAGCGAGGC	0.672																																						uc001tms.2		NaN																	0				ovary(1)|large_intestine(1)|breast(1)	3						c.(568-570)GTG>TTG		WSC domain containing 2							33.0	40.0	38.0					12																	108603968		2202	4295	6497	SO:0001583	missense	9671					integral to membrane		g.chr12:108603968G>T		CCDS41828.1	12q23.3	2008-02-05				ENSG00000075035			29117	protein-coding gene	gene with protein product							Standard	NM_014653		Approved	KIAA0789	uc001tms.3	Q2TBF2		ENST00000332082.4:c.568G>T	12.37:g.108603968G>T	ENSP00000331933:p.Val190Leu					WSCD2_uc001tmt.2_Missense_Mutation_p.V190L	p.V190L	NM_014653	NP_055468	Q2TBF2	WSCD2_HUMAN			4	1312	+			190			WSC 1.		B2RN48|B4DES1|Q8IY35|Q9Y4B7	Missense_Mutation	SNP	ENST00000332082.4	37	c.568G>T	CCDS41828.1	.	.	.	.	.	.	.	.	.	.	G	16.90	3.251362	0.59212	.	.	ENSG00000075035	ENST00000547525;ENST00000261400;ENST00000551638;ENST00000332082;ENST00000549903	T;T;T;T;T	0.55052	0.54;0.54;0.54;0.54;0.54	5.12	4.22	0.49857	Carbohydrate-binding WSC (2);Carbohydrate-binding WSC, subgroup (1);	0.580480	0.18146	N	0.150244	T	0.45438	0.1342	L	0.45581	1.43	0.35711	D	0.816408	B	0.06786	0.001	B	0.10450	0.005	T	0.52147	-0.8614	10	0.39692	T	0.17	-19.404	11.7422	0.51799	0.0867:0.0:0.9133:0.0	.	190	Q2TBF2	WSCD2_HUMAN	L	190;190;37;190;190	ENSP00000448047:V190L;ENSP00000261400:V190L;ENSP00000446744:V37L;ENSP00000331933:V190L;ENSP00000447272:V190L	ENSP00000261400:V190L	V	+	1	0	WSCD2	107128098	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.010000	0.64004	2.379000	0.81126	0.555000	0.69702	GTG		0.672	WSCD2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405554.1		NM_014653		3	24	1	0	0.115264	1	0.115264	3	24		
WSB2	55884	broad.mit.edu	37	12	118476129	118476129	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:118476129G>C	ENST00000315436.3	-	5	765	c.624C>G	c.(622-624)gaC>gaG	p.D208E	WSB2_ENST00000544233.1_5'UTR|WSB2_ENST00000441406.2_Missense_Mutation_p.D225E|WSB2_ENST00000536738.1_Intron|WSB2_ENST00000542304.1_Intron|WSB2_ENST00000535496.1_Missense_Mutation_p.D210E	NM_001278557.1|NM_018639.3	NP_001265486.1|NP_061109.1	Q9NYS7	WSB2_HUMAN	WD repeat and SOCS box containing 2	208					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCATGCTGCAGTCTGGGGAGA	0.512																																						uc001twr.2		NaN																	0				ovary(1)	1						c.(622-624)GAC>GAG		WD SOCS-box protein 2							75.0	64.0	67.0					12																	118476129		2203	4300	6503	SO:0001583	missense	55884				intracellular signal transduction			g.chr12:118476129G>C	AF038187	CCDS9186.1, CCDS61251.1, CCDS61252.1	12q24.23	2013-01-09	2011-01-25		ENSG00000176871	ENSG00000176871		"""WD repeat domain containing"""	19222	protein-coding gene	gene with protein product			"""WD repeat and SOCS box-containing 2"""			12076535	Standard	NM_018639		Approved	SBA2, MGC10210	uc001twr.2	Q9NYS7	OTTHUMG00000168885	ENST00000315436.3:c.624C>G	12.37:g.118476129G>C	ENSP00000319474:p.Asp208Glu					WSB2_uc010sza.1_Intron|WSB2_uc010szb.1_5'UTR|WSB2_uc009zws.1_Missense_Mutation_p.D208E	p.D208E	NM_018639	NP_061109	Q9NYS7	WSB2_HUMAN			5	722	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		208			WD 3.		B4DIE6|B4DPV6|Q9NRX9	Missense_Mutation	SNP	ENST00000315436.3	37	c.624C>G	CCDS9186.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.562298	0.86335	.	.	ENSG00000176871	ENST00000315436;ENST00000441406;ENST00000535496;ENST00000537945	T;T;T;T	0.01787	4.64;4.64;4.64;4.64	5.24	5.24	0.73138	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.088323	0.85682	D	0.000000	T	0.11281	0.0275	M	0.85777	2.775	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.00056	-1.2176	10	0.87932	D	0	-11.9662	12.8329	0.57756	0.0797:0.0:0.9203:0.0	.	208	Q9NYS7	WSB2_HUMAN	E	208;225;210;210	ENSP00000319474:D208E;ENSP00000409131:D225E;ENSP00000439450:D210E;ENSP00000440386:D210E	ENSP00000319474:D208E	D	-	3	2	WSB2	116960512	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.373000	0.59537	2.425000	0.82216	0.655000	0.94253	GAC		0.512	WSB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401515.1		NM_018639		14	25	0	0	0	1	0	14	25		
SRRM4	84530	broad.mit.edu	37	12	119559877	119559877	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:119559877C>A	ENST00000267260.4	+	6	855	c.467C>A	c.(466-468)tCc>tAc	p.S156Y		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	156	Lys-rich.|Ser-rich.				cell differentiation (GO:0030154)|mRNA processing (GO:0006397)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	mRNA binding (GO:0003729)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						TTGTTTAGCTCCTCTAGCCCA	0.378																																						uc001txa.1		NaN																	0				ovary(2)	2						c.(466-468)TCC>TAC		KIAA1853 protein							116.0	108.0	111.0					12																	119559877		1853	4095	5948	SO:0001583	missense	84530				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding	g.chr12:119559877C>A	AB058756	CCDS44994.1	12q24.23	2009-09-22	2009-09-21	2009-09-21	ENSG00000139767	ENSG00000139767			29389	protein-coding gene	gene with protein product	"""neural-specific SR-related protein of 100 kDa"""	613103	"""KIAA1853"""	KIAA1853		19737518	Standard	NM_194286		Approved	nSR100	uc001txa.2	A7MD48	OTTHUMG00000168928	ENST00000267260.4:c.467C>A	12.37:g.119559877C>A	ENSP00000267260:p.Ser156Tyr						p.S156Y	NM_194286	NP_919262	A7MD48	SRRM4_HUMAN			6	759	+			156			Ser-rich.|Lys-rich.		A8K5P6|B2RZH7|Q7Z5F0|Q96JH4	Missense_Mutation	SNP	ENST00000267260.4	37	c.467C>A	CCDS44994.1	.	.	.	.	.	.	.	.	.	.	C	15.58	2.875612	0.51695	.	.	ENSG00000139767	ENST00000267260	T	0.48201	0.82	4.65	4.65	0.58169	.	0.196330	0.45126	D	0.000396	T	0.65460	0.2693	M	0.62723	1.935	0.44477	D	0.997416	D	0.76494	0.999	D	0.83275	0.996	T	0.68926	-0.5280	10	0.72032	D	0.01	-17.2983	14.6033	0.68456	0.0:1.0:0.0:0.0	.	156	A7MD48	SRRM4_HUMAN	Y	156	ENSP00000267260:S156Y	ENSP00000267260:S156Y	S	+	2	0	SRRM4	118044260	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.352000	0.59404	2.266000	0.75297	0.462000	0.41574	TCC		0.378	SRRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401640.2		NM_194286		12	28	1	0	0.000151284	1	0.000155097	12	28		
GCN1L1	10985	broad.mit.edu	37	12	120576567	120576567	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:120576567C>T	ENST00000300648.6	-	46	6100	c.6088G>A	c.(6088-6090)Gag>Aag	p.E2030K		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	2030					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGCAGCTGCTCGAAAGTCTTG	0.547																																						uc001txo.2		NaN																	0				ovary(4)	4						c.(6088-6090)GAG>AAG		GCN1 general control of amino-acid synthesis							143.0	151.0	149.0					12																	120576567		2020	4203	6223	SO:0001583	missense	10985				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	g.chr12:120576567C>T	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"""GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"""			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.6088G>A	12.37:g.120576567C>T	ENSP00000300648:p.Glu2030Lys						p.E2030K	NM_006836	NP_006827	Q92616	GCN1L_HUMAN			46	6101	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		2030			HEAT 17.		A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Missense_Mutation	SNP	ENST00000300648.6	37	c.6088G>A	CCDS41847.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.843699	0.91197	.	.	ENSG00000089154	ENST00000300648	T	0.63913	-0.07	5.95	5.95	0.96441	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.66742	0.2820	L	0.49350	1.555	0.80722	D	1	D	0.62365	0.991	P	0.48189	0.57	T	0.67288	-0.5708	10	0.52906	T	0.07	.	20.3932	0.98965	0.0:1.0:0.0:0.0	.	2030	Q92616	GCN1L_HUMAN	K	2030	ENSP00000300648:E2030K	ENSP00000300648:E2030K	E	-	1	0	GCN1L1	119060950	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	7.188000	0.77739	2.824000	0.97209	0.655000	0.94253	GAG		0.547	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1				28	102	0	0	0	1	0	28	102		
PLA2G1B	5319	broad.mit.edu	37	12	120759997	120759997	+	Nonstop_Mutation	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:120759997C>A	ENST00000308366.4	-	4	481	c.446G>T	c.(445-447)tGa>tTa	p.*149L	PLA2G1B_ENST00000423423.3_3'UTR|PLA2G1B_ENST00000549767.1_Nonstop_Mutation_p.*120L	NM_000928.2	NP_000919.1	P04054	PA21B_HUMAN	phospholipase A2, group IB (pancreas)	0					actin filament organization (GO:0007015)|activation of MAPK activity (GO:0000187)|activation of phospholipase A2 activity (GO:0032431)|antibacterial humoral response (GO:0019731)|arachidonic acid secretion (GO:0050482)|cellular response to insulin stimulus (GO:0032869)|defense response to Gram-positive bacterium (GO:0050830)|fatty acid biosynthetic process (GO:0006633)|glucose transport (GO:0015758)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response in mucosa (GO:0002227)|interleukin-8 production (GO:0032637)|intracellular signal transduction (GO:0035556)|leukotriene biosynthetic process (GO:0019370)|multicellular organismal lipid catabolic process (GO:0044240)|neutrophil chemotaxis (GO:0030593)|neutrophil mediated immunity (GO:0002446)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylcholine metabolic process (GO:0046470)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of immune response (GO:0050778)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|secretory granule (GO:0030141)	bile acid binding (GO:0032052)|calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|phospholipase A2 activity (GO:0004623)|receptor binding (GO:0005102)			endometrium(1)|large_intestine(1)|lung(3)|skin(2)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)				Niflumic Acid(DB04552)|Sulfasalazine(DB00795)	AGGTGATATTCAACTCTGACA	0.423																																					NSCLC(64;1781 1795 22266 42732)|Esophageal Squamous(30;459 829 25326 35148)	uc001tyd.2		NaN																	0				skin(1)	1						c.(445-447)TGA>TTA		phospholipase A2 group IB precursor							381.0	321.0	341.0					12																	120759997		2203	4300	6503	SO:0001578	stop_lost	5319				actin filament organization|activation of MAPK activity|activation of phospholipase A2 activity|arachidonic acid secretion|cellular response to insulin stimulus|glucose transport|interleukin-8 production|leukotriene biosynthetic process|multicellular organismal lipid catabolic process|neutrophil chemotaxis|neutrophil mediated immunity|phosphatidylcholine metabolic process|positive regulation of calcium ion transport into cytosol|positive regulation of DNA replication|positive regulation of immune response|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein secretion|positive regulation of transcription from RNA polymerase II promoter	extracellular space	bile acid binding|calcium ion binding|calcium-dependent phospholipase A2 activity|cell surface binding|receptor binding	g.chr12:120759997C>A		CCDS9195.1	12q24.31	2013-09-19			ENSG00000170890	ENSG00000170890	3.1.1.4		9030	protein-coding gene	gene with protein product		172410		PLA2, PPLA2, PLA2A		8175726	Standard	NM_000928		Approved		uc001tyd.3	P04054	OTTHUMG00000169343	ENST00000308366.4:c.446G>T	12.37:g.120759997C>A						PLA2G1B_uc009zwx.2_3'UTR	p.*149L	NM_000928	NP_000919	P04054	PA21B_HUMAN			4	482	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		149					B2R4H5|Q3KPI1	Nonstop_Mutation	SNP	ENST00000308366.4	37	c.446G>T	CCDS9195.1	.	.	.	.	.	.	.	.	.	.	C	9.285	1.049015	0.19827	.	.	ENSG00000170890	ENST00000308366;ENST00000549767	.	.	.	5.59	2.74	0.32292	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.9638	0.41712	0.0:0.7118:0.0:0.2882	.	.	.	.	L	149;120	.	.	X	-	2	2	PLA2G1B	119244380	0.000000	0.05858	0.041000	0.18516	0.006000	0.05464	-0.539000	0.06113	0.713000	0.32060	0.655000	0.94253	TGA		0.423	PLA2G1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403626.1				62	181	1	0	7.82978e-24	1	8.78906e-24	62	181		
POP5	51367	broad.mit.edu	37	12	121018922	121018922	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:121018922G>A	ENST00000357500.4	-	2	194	c.159C>T	c.(157-159)ttC>ttT	p.F53F	POP5_ENST00000341039.2_Silent_p.F53F|POP5_ENST00000542776.1_5'UTR	NM_015918.3	NP_057002.2	Q969H6	POP5_HUMAN	processing of precursor 5, ribonuclease P/MRP subunit (S. cerevisiae)	53					tRNA processing (GO:0008033)	nucleolar ribonuclease P complex (GO:0005655)	ribonuclease P activity (GO:0004526)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7	all_neural(191;0.077)|Medulloblastoma(191;0.0922)					TTGCACCCGCGAAGCCGATGG	0.677																																						uc001tys.2		NaN																	0					0						c.(157-159)TTC>TTT		processing of precursor 5 isoform a							39.0	47.0	44.0					12																	121018922		2175	4235	6410	SO:0001819	synonymous_variant	51367				tRNA processing		protein binding|ribonuclease P activity	g.chr12:121018922G>A	AJ306296	CCDS9202.1, CCDS9203.1	12q24.31	2012-05-21			ENSG00000167272	ENSG00000167272			17689	protein-coding gene	gene with protein product		609992				11413139	Standard	NM_198202		Approved		uc001tys.3	Q969H6	OTTHUMG00000169023	ENST00000357500.4:c.159C>T	12.37:g.121018922G>A						POP5_uc001tyt.2_Silent_p.F53F	p.F53F	NM_015918	NP_057002	Q969H6	POP5_HUMAN			2	191	-	all_neural(191;0.077)|Medulloblastoma(191;0.0922)		53					A6NL80|Q53FS5|Q9Y2Q6	Silent	SNP	ENST00000357500.4	37	c.159C>T	CCDS9202.1																																																																																				0.677	POP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401993.1		NM_015918		11	61	0	0	0	1	0	11	61		
WDR66	144406	broad.mit.edu	37	12	122392093	122392093	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:122392093C>T	ENST00000288912.4	+	10	2242	c.1388C>T	c.(1387-1389)tCa>tTa	p.S463L	WDR66_ENST00000397454.2_Missense_Mutation_p.S463L	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	463							calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		CAAATACTCTCAGCCACAATG	0.438																																					Esophageal Squamous(85;849 1794 49757 52143)	uc009zxk.2		NaN																	0				ovary(1)|skin(1)	2						c.(1387-1389)TCA>TTA		WD repeat domain 66							106.0	101.0	103.0					12																	122392093		1902	4124	6026	SO:0001583	missense	144406						calcium ion binding	g.chr12:122392093C>T	AL833930	CCDS41853.1, CCDS53840.1	12q24.31	2014-07-31			ENSG00000158023	ENSG00000158023		"""WD repeat domain containing"""	28506	protein-coding gene	gene with protein product						17967944	Standard	NM_001178003		Approved	MGC33630, CaM-IP4	uc009zxk.3	Q8TBY9	OTTHUMG00000168948	ENST00000288912.4:c.1388C>T	12.37:g.122392093C>T	ENSP00000288912:p.Ser463Leu						p.S463L	NM_144668	NP_653269	Q8TBY9	WDR66_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)	10	1530	+	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)		463			WD 4.		C9J1W2|Q8IYA3|Q8N898|Q8NDE7	Missense_Mutation	SNP	ENST00000288912.4	37	c.1388C>T	CCDS41853.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.687147	0.88639	.	.	ENSG00000158023	ENST00000288912;ENST00000397454	T;T	0.70045	0.87;-0.45	5.57	5.57	0.84162	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.056931	0.64402	D	0.000002	T	0.68026	0.2956	M	0.64997	1.995	0.40202	D	0.977522	P	0.37824	0.609	B	0.37601	0.254	T	0.73251	-0.4042	10	0.87932	D	0	.	19.1659	0.93557	0.0:1.0:0.0:0.0	.	463	Q8TBY9	WDR66_HUMAN	L	463	ENSP00000288912:S463L;ENSP00000380595:S463L	ENSP00000288912:S463L	S	+	2	0	WDR66	120876476	0.993000	0.37304	0.396000	0.26296	0.602000	0.36980	6.357000	0.73051	2.619000	0.88677	0.491000	0.48974	TCA		0.438	WDR66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401700.1		NM_144668		36	69	0	0	0	1	0	36	69		
VPS33A	65082	broad.mit.edu	37	12	122750907	122750907	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:122750907C>T	ENST00000267199.4	-	1	161	c.49G>A	c.(49-51)Gag>Aag	p.E17K	RP11-512M8.5_ENST00000535844.1_Missense_Mutation_p.E17K|VPS33A_ENST00000451053.2_Missense_Mutation_p.E17K|VPS33A_ENST00000542310.1_5'Flank	NM_022916.4	NP_075067.2	Q96AX1	VP33A_HUMAN	vacuolar protein sorting 33 homolog A (S. cerevisiae)	17					lysosome localization (GO:0032418)|melanosome localization (GO:0032400)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of developmental pigmentation (GO:0048070)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	early endosome (GO:0005769)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		CGCACCGCCTCGCGCAACACG	0.677																																						uc001ucd.2		NaN																	0				skin(1)	1						c.(49-51)GAG>AAG		vacuolar protein sorting 33A							72.0	61.0	65.0					12																	122750907		2203	4300	6503	SO:0001583	missense	65082				lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding	g.chr12:122750907C>T	AK026048	CCDS9231.1	12q24.31	2008-06-23	2006-04-04		ENSG00000139719	ENSG00000139719			18179	protein-coding gene	gene with protein product		610034	"""vacuolar protein sorting 33A (yeast)"""			11250079	Standard	NM_022916		Approved		uc001ucd.3	Q96AX1	OTTHUMG00000168920	ENST00000267199.4:c.49G>A	12.37:g.122750907C>T	ENSP00000267199:p.Glu17Lys					VPS33A_uc001ucc.2_RNA|VPS33A_uc001uce.2_Missense_Mutation_p.E17K	p.E17K	NM_022916	NP_075067	Q96AX1	VP33A_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)	1	162	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		17					Q547V4|Q9H5Q0	Missense_Mutation	SNP	ENST00000267199.4	37	c.49G>A	CCDS9231.1	.	.	.	.	.	.	.	.	.	.	C	36	5.646918	0.96714	.	.	ENSG00000139719	ENST00000267199;ENST00000451053	T;T	0.30981	1.51;1.51	5.4	3.53	0.40419	.	0.054935	0.64402	D	0.000001	T	0.39410	0.1077	M	0.68593	2.085	0.80722	D	1	D;D	0.61080	0.989;0.983	P;P	0.48738	0.588;0.522	T	0.37150	-0.9718	10	0.66056	D	0.02	-37.141	12.3481	0.55132	0.1346:0.7363:0.1292:0.0	.	17;17	F5H6Y0;Q96AX1	.;VP33A_HUMAN	K	17	ENSP00000267199:E17K;ENSP00000442951:E17K	ENSP00000446319:E17K	E	-	1	0	VPS33A	121316860	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.712000	0.74681	0.800000	0.34041	0.655000	0.94253	GAG		0.677	VPS33A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401607.2				8	36	0	0	0	1	0	8	36		
CLIP1	6249	broad.mit.edu	37	12	122825453	122825453	+	Silent	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:122825453G>C	ENST00000540338.1	-	10	2339	c.2298C>G	c.(2296-2298)ctC>ctG	p.L766L	CLIP1_ENST00000545889.1_Intron|CLIP1_ENST00000302528.7_Silent_p.L755L|CLIP1_ENST00000358808.2_Silent_p.L755L|CLIP1_ENST00000361654.4_Intron|CLIP1_ENST00000537178.1_Silent_p.L720L			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	766				L -> P (in Ref. 3; AAI14214). {ECO:0000305}.	microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of microtubule polymerization (GO:0031116)|transport (GO:0006810)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|intermediate filament (GO:0005882)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		CAGTAGCCTTGAGCTGTGATG	0.408																																						uc001ucg.1		NaN																	0				ovary(2)|breast(1)	3						c.(2296-2298)CTC>CTG		restin isoform a							215.0	200.0	205.0					12																	122825453		2203	4300	6503	SO:0001819	synonymous_variant	6249				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding	g.chr12:122825453G>C		CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779			10461	protein-coding gene	gene with protein product	"""restin"""	179838	"""restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)"""	RSN		8222754	Standard	NM_001247997		Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000540338.1:c.2298C>G	12.37:g.122825453G>C						CLIP1_uc001uch.1_Silent_p.L755L|CLIP1_uc001uci.1_Silent_p.L720L|CLIP1_uc001ucj.1_Intron	p.L766L	NM_002956	NP_002947	P30622	CLIP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)	10	2404	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		766	L -> P (in Ref. 3; AAI14214).		Potential.		A0AVD3|Q17RS4|Q29RG0	Silent	SNP	ENST00000540338.1	37	c.2298C>G	CCDS58285.1																																																																																				0.408	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401625.1		NM_002956		52	108	0	0	0	1	0	52	108		
DNAH10	196385	broad.mit.edu	37	12	124315201	124315201	+	Silent	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:124315201C>A	ENST00000409039.3	+	25	4171	c.4146C>A	c.(4144-4146)ctC>ctA	p.L1382L		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1382	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CAGATGTTCTCAATGAGATTG	0.368																																						uc001uft.3		NaN																	0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(4144-4146)CTC>CTA		dynein, axonemal, heavy chain 10							70.0	67.0	68.0					12																	124315201		1875	4111	5986	SO:0001819	synonymous_variant	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124315201C>A	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.4146C>A	12.37:g.124315201C>A							p.L1382L	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	25	4171	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1382			Stem (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Silent	SNP	ENST00000409039.3	37	c.4146C>A	CCDS9255.2																																																																																				0.368	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3				13	19	1	0	7.93312e-07	1	8.29186e-07	13	19		
SCARB1	949	broad.mit.edu	37	12	125284769	125284769	+	Silent	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:125284769G>T	ENST00000415380.2	-	8	1154	c.1029C>A	c.(1027-1029)tcC>tcA	p.S343S	SCARB1_ENST00000261693.6_Silent_p.S343S|SCARB1_ENST00000546215.1_Silent_p.S343S|SCARB1_ENST00000339570.5_Silent_p.S343S|SCARB1_ENST00000541205.1_Silent_p.S302S|SCARB1_ENST00000544327.1_Silent_p.S289S|SCARB1_ENST00000540495.1_Silent_p.S306S|SCARB1_ENST00000376788.1_Silent_p.S243S|SCARB1_ENST00000535005.1_5'UTR			Q8WTV0	SCRB1_HUMAN	scavenger receptor class B, member 1	343					adhesion of symbiont to host (GO:0044406)|androgen biosynthetic process (GO:0006702)|blood vessel endothelial cell migration (GO:0043534)|cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|detection of lipopolysaccharide (GO:0032497)|endothelial cell proliferation (GO:0001935)|high-density lipoprotein particle clearance (GO:0034384)|high-density lipoprotein particle remodeling (GO:0034375)|lipopolysaccharide transport (GO:0015920)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid transport (GO:0015914)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of triglyceride biosynthetic process (GO:0010867)|receptor-mediated endocytosis (GO:0006898)|recognition of apoptotic cell (GO:0043654)|regulation of phagocytosis (GO:0050764)|regulation of phosphatidylcholine catabolic process (GO:0010899)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|viral process (GO:0016032)|wound healing (GO:0042060)	caveola (GO:0005901)|cell surface (GO:0009986)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein binding (GO:0034185)|high-density lipoprotein particle binding (GO:0008035)|high-density lipoprotein particle receptor activity (GO:0070506)|lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)	p.S343S(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	Phosphatidylserine(DB00144)	AGTGAGGATGGGAGAGAAACA	0.602																																						uc001ugo.3		NaN																	1	Substitution - coding silent(1)		large_intestine(1)	kidney(1)	1						c.(1027-1029)TCC>TCA		scavenger receptor class B, member 1 isoform 1	Phosphatidylserine(DB00144)						86.0	83.0	84.0					12																	125284769		2203	4300	6503	SO:0001819	synonymous_variant	949				adhesion to symbiont|cell adhesion|cholesterol efflux|cholesterol homeostasis|cholesterol import|detection of lipopolysaccharide|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|lipopolysaccharide transport|lipoprotein metabolic process|positive regulation of cholesterol storage|positive regulation of endothelial cell migration|positive regulation of nitric-oxide synthase activity|recognition of apoptotic cell|reverse cholesterol transport|triglyceride homeostasis|wound healing	caveola	1-phosphatidylinositol binding|apolipoprotein A-I binding|high-density lipoprotein particle receptor activity|lipopolysaccharide receptor activity|low-density lipoprotein particle binding|phosphatidylserine binding|transporter activity	g.chr12:125284769G>T	Z22555	CCDS9259.1, CCDS45008.1	12q24.32	2008-08-05	2002-09-06	2002-09-06	ENSG00000073060	ENSG00000073060			1664	protein-coding gene	gene with protein product		601040	"""CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 1"""	CD36L1		7689561	Standard	NM_001082959		Approved	SRB1, CLA-1, CLA1, SR-BI	uc001ugm.4	Q8WTV0	OTTHUMG00000168544	ENST00000415380.2:c.1029C>A	12.37:g.125284769G>T						SCARB1_uc001ugn.3_Silent_p.S343S|SCARB1_uc001ugm.3_Silent_p.S343S|SCARB1_uc010tbd.1_Silent_p.S343S|SCARB1_uc010tbe.1_Silent_p.S302S|SCARB1_uc001ugp.3_Silent_p.S343S	p.S343S	NM_005505	NP_005496	Q8WTV0	SCRB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	8	1282	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		343			Extracellular (Potential).		F8W8N0|Q14016|Q52LZ5|Q6KFX4	Silent	SNP	ENST00000415380.2	37	c.1029C>A																																																																																					0.602	SCARB1-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000400165.1		NM_005505		11	32	1	0	5.16669e-11	1	5.56034e-11	11	32		
TPTE2	93492	broad.mit.edu	37	13	20006667	20006667	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr13:20006667G>C	ENST00000400230.2	-	16	1212	c.1168C>G	c.(1168-1170)Ctc>Gtc	p.L390V	TPTE2_ENST00000382977.4_Missense_Mutation_p.L390V|TPTE2_ENST00000255310.6_Missense_Mutation_p.L313V|TPTE2_ENST00000400103.2_Missense_Mutation_p.L279V|TPTE2_ENST00000382978.1_Missense_Mutation_p.L350V|TPTE2_ENST00000382975.4_Missense_Mutation_p.L350V|TPTE2_ENST00000390680.2_Missense_Mutation_p.L313V|TPTE2_ENST00000457266.2_Missense_Mutation_p.L279V			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	390					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		CTTGGAGGGAGATTCCAGTTG	0.358																																						uc001umd.2		NaN																	0					0						c.(1168-1170)CTC>GTC		TPTE and PTEN homologous inositol lipid							35.0	34.0	34.0					13																	20006667		2201	4287	6488	SO:0001583	missense	93492					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr13:20006667G>C	AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.1168C>G	13.37:g.20006667G>C	ENSP00000383089:p.Leu390Val					TPTE2_uc009zzk.2_RNA|TPTE2_uc009zzl.2_Missense_Mutation_p.L279V|TPTE2_uc001ume.2_Missense_Mutation_p.L313V|TPTE2_uc009zzm.2_Missense_Mutation_p.L61V|TPTE2_uc010tcm.1_RNA|TPTE2_uc010tcl.1_Missense_Mutation_p.L61V	p.L390V	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)	17	1379	-		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	390					A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Missense_Mutation	SNP	ENST00000400230.2	37	c.1168C>G	CCDS45014.1	.	.	.	.	.	.	.	.	.	.	g	2.770	-0.255812	0.05829	.	.	ENSG00000132958	ENST00000382978;ENST00000400103;ENST00000400230;ENST00000255310;ENST00000390680;ENST00000382977;ENST00000382975;ENST00000457266;ENST00000343548;ENST00000419256	D;D;D;D;D;D;D;D	0.94966	-3.56;-3.56;-3.47;-3.57;-3.57;-3.47;-3.56;-3.56	2.75	0.963	0.19649	.	0.068889	0.64402	D	0.000014	D	0.87759	0.6258	L	0.35793	1.09	0.19575	N	0.999964	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.09377	0.004;0.004;0.003	T	0.74134	-0.3763	9	.	.	.	-20.6839	5.7911	0.18361	0.1229:0.1996:0.6775:0.0	.	279;313;390	A8MX64;Q6XPS3-3;Q6XPS3	.;.;TPTE2_HUMAN	V	350;279;390;313;313;390;350;279;390;259	ENSP00000372438:L350V;ENSP00000382974:L279V;ENSP00000383089:L390V;ENSP00000255310:L313V;ENSP00000375098:L313V;ENSP00000372437:L390V;ENSP00000372435:L350V;ENSP00000442218:L279V	.	L	-	1	0	TPTE2	18904667	0.997000	0.39634	0.003000	0.11579	0.009000	0.06853	2.236000	0.43052	0.230000	0.21059	-0.484000	0.04775	CTC		0.358	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_199254		6	24	0	0	0	1	0	6	24		
SACS	26278	broad.mit.edu	37	13	23930039	23930039	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr13:23930039T>C	ENST00000382292.3	-	7	985	c.712A>G	c.(712-714)Aaa>Gaa	p.K238E	SACS_ENST00000476776.1_5'Flank|SACS_ENST00000402364.1_5'UTR|SACS_ENST00000382298.3_Missense_Mutation_p.K238E			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	238					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CTAATTTCTTTGCTGTCATCT	0.388																																						uc001uon.2		NaN																	0				ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(712-714)AAA>GAA		sacsin							100.0	93.0	95.0					13																	23930039		2203	4300	6503	SO:0001583	missense	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23930039T>C	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.712A>G	13.37:g.23930039T>C	ENSP00000371729:p.Lys238Glu					SACS_uc001uoo.2_Missense_Mutation_p.K91E|SACS_uc001uop.1_Missense_Mutation_p.K25E|SACS_uc001uoq.1_Missense_Mutation_p.K91E	p.K238E	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	8	1301	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	238					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.712A>G	CCDS9300.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.78|10.78	1.445897|1.445897	0.25987|0.25987	.|.	.|.	ENSG00000151835|ENSG00000151835	ENST00000382292;ENST00000382298|ENST00000455470	D;D|.	0.87887|.	-2.31;-2.31|.	5.94|5.94	3.46|3.46	0.39613|0.39613	ATPase-like, ATP-binding domain (2);|.	0.100811|.	0.64402|.	N|.	0.000003|.	T|T	0.23886|0.23886	0.0578|0.0578	N|N	0.03948|0.03948	-0.315|-0.315	0.37968|0.37968	D|D	0.933194|0.933194	B;B;B|.	0.20164|.	0.001;0.0;0.042|.	B;B;B|.	0.27796|.	0.005;0.008;0.083|.	T|T	0.09487|0.09487	-1.0672|-1.0672	10|5	0.12103|.	T|.	0.63|.	.|.	8.7174|8.7174	0.34419|0.34419	0.0:0.0661:0.1294:0.8045|0.0:0.0661:0.1294:0.8045	.|.	137;25;238|.	B2REB1;E9PAL4;Q9NZJ4|.	.;.;SACS_HUMAN|.	E|R	238|137	ENSP00000371729:K238E;ENSP00000371735:K238E|.	ENSP00000371729:K238E|.	K|Q	-|-	1|2	0|0	SACS|SACS	22828039|22828039	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	5.147000|5.147000	0.64851|0.64851	0.478000|0.478000	0.27488|0.27488	0.528000|0.528000	0.53228|0.53228	AAA|CAA		0.388	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3		NM_014363		63	3	0	0	0	1	0	63	3		
AMER2	219287	broad.mit.edu	37	13	25745097	25745097	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr13:25745097C>T	ENST00000515384.1	-	1	1328	c.661G>A	c.(661-663)Ggg>Agg	p.G221R	AMER2_ENST00000381853.3_Missense_Mutation_p.G221R|AMER2-AS1_ENST00000413501.1_lincRNA|AMER2_ENST00000357816.2_Missense_Mutation_p.G221R			Q8N7J2	AMER2_HUMAN	APC membrane recruitment protein 2	221					ectoderm development (GO:0007398)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)										AAgccgcccccgggcgcgcgc	0.731																																						uc001uqb.2		NaN																	0				ovary(2)|large_intestine(1)|lung(1)	4						c.(661-663)GGG>AGG		hypothetical protein LOC219287 isoform 1							6.0	7.0	6.0					13																	25745097		1701	3615	5316	SO:0001583	missense	219287							g.chr13:25745097C>T	AK055049	CCDS9312.1, CCDS53859.1	13q12.13	2013-10-11	2012-12-03	2012-12-03	ENSG00000165566	ENSG00000165566		"""-"""	26360	protein-coding gene	gene with protein product		614659	"""family with sequence similarity 123A"""	FAM123A		20843316	Standard	XM_005266279		Approved	FLJ25477	uc001uqb.3	Q8N7J2	OTTHUMG00000016602	ENST00000515384.1:c.661G>A	13.37:g.25745097C>T	ENSP00000426528:p.Gly221Arg					FAM123A_uc001uqa.2_Missense_Mutation_p.G221R|FAM123A_uc001uqc.2_Missense_Mutation_p.G221R	p.G221R	NM_152704	NP_689917	Q8N7J2	F123A_HUMAN		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)	1	761	-		Lung SC(185;0.0225)|Breast(139;0.0602)	221					Q5RL80|Q5VX56|Q8N593|Q96NN5	Missense_Mutation	SNP	ENST00000515384.1	37	c.661G>A	CCDS53859.1	.	.	.	.	.	.	.	.	.	.	C	2.995	-0.207209	0.06180	.	.	ENSG00000165566	ENST00000357816;ENST00000381853;ENST00000515384	T;T;T	0.16597	2.33;2.33;2.33	1.74	0.864	0.19068	.	1.453700	0.04454	U	0.373100	T	0.15998	0.0385	L	0.34521	1.04	0.25816	N	0.984334	D;D	0.62365	0.991;0.989	P;P	0.48840	0.592;0.456	T	0.20107	-1.0285	10	0.16896	T	0.51	-23.7402	4.1084	0.10047	0.0:0.7774:0.0:0.2226	.	221;221	Q8N7J2;Q8N7J2-2	F123A_HUMAN;.	R	221	ENSP00000350469:G221R;ENSP00000371277:G221R;ENSP00000426528:G221R	ENSP00000350469:G221R	G	-	1	0	FAM123A	24643097	0.281000	0.24258	0.892000	0.35008	0.765000	0.43378	2.940000	0.49003	0.279000	0.22186	0.305000	0.20034	GGG		0.731	AMER2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000370229.1		NM_152704		7	1	0	0	0	1	0	7	1		
KBTBD7	84078	broad.mit.edu	37	13	41766848	41766848	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr13:41766848G>A	ENST00000379483.3	-	1	1854	c.1546C>T	c.(1546-1548)Cag>Tag	p.Q516*		NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	516										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		CATGCTTCCTGAAAGTCACTA	0.428																																						uc001uxw.1		NaN																	0				ovary(1)	1						c.(1546-1548)CAG>TAG		kelch repeat and BTB (POZ) domain containing 7							89.0	83.0	85.0					13																	41766848		2203	4300	6503	SO:0001587	stop_gained	84078						protein binding	g.chr13:41766848G>A	AL136782	CCDS9377.1	13q13.3	2013-01-08			ENSG00000120696	ENSG00000120696		"""BTB/POZ domain containing"""	25266	protein-coding gene	gene with protein product						11230166	Standard	NM_032138		Approved	DKFZP434E2318	uc001uxw.1	Q8WVZ9	OTTHUMG00000016789	ENST00000379483.3:c.1546C>T	13.37:g.41766848G>A	ENSP00000368797:p.Gln516*					uc001uxv.1_Intron	p.Q516*	NM_032138	NP_115514	Q8WVZ9	KBTB7_HUMAN		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)	1	1855	-		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)	516			Kelch 3.		B5TZ86|Q5T6Y7|Q8NB99|Q9H0I6	Nonsense_Mutation	SNP	ENST00000379483.3	37	c.1546C>T	CCDS9377.1	.	.	.	.	.	.	.	.	.	.	G	37	6.129071	0.97310	.	.	ENSG00000120696	ENST00000379483;ENST00000501885	.	.	.	5.37	4.52	0.55395	.	0.073354	0.56097	U	0.000034	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	13.8266	0.63354	0.0:0.1549:0.8451:0.0	.	.	.	.	X	516;418	.	ENSP00000368797:Q516X	Q	-	1	0	KBTBD7	40664848	1.000000	0.71417	1.000000	0.80357	0.341000	0.28922	6.219000	0.72231	1.237000	0.43756	-0.310000	0.09108	CAG		0.428	KBTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044660.1		NM_032138		82	11	0	0	0	1	0	82	11		
KIAA0226L	80183	broad.mit.edu	37	13	46946326	46946326	+	Silent	SNP	G	G	A	rs374412717		TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr13:46946326G>A	ENST00000429979.1	-	3	889	c.285C>T	c.(283-285)ctC>ctT	p.L95L	KIAA0226L_ENST00000378784.4_Silent_p.L28L|KIAA0226L_ENST00000409879.2_Intron|KIAA0226L_ENST00000378797.2_Silent_p.L95L|KIAA0226L_ENST00000322896.6_Intron|KIAA0226L_ENST00000480935.1_5'UTR|RNU2-6P_ENST00000411404.1_RNA|KIAA0226L_ENST00000378787.3_Silent_p.L95L|KIAA0226L_ENST00000378781.3_Silent_p.L95L|KIAA0226L_ENST00000389908.3_Silent_p.L95L|KIAA0226L_ENST00000534925.1_5'UTR	NM_025113.2	NP_079389.2	Q9H714	K226L_HUMAN	KIAA0226-like	95	Ser-rich.									NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						GGGAGTCCCCGAGGCACGAAG	0.582																																						uc010acl.2		NaN																	0					0						c.(283-285)CTC>CTT		hypothetical protein LOC80183		G		1,4405	2.1+/-5.4	0,1,2202	105.0	98.0	100.0		285	-10.4	0.0	13		100	0,8600		0,0,4300	no	coding-synonymous	KIAA0226L	NM_025113.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		95/663	46946326	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	80183							g.chr13:46946326G>A	AK025215	CCDS31970.2, CCDS66543.1, CCDS66544.1, CCDS66545.1, CCDS73569.1	13q14.11	2011-08-09	2011-08-09	2011-08-09	ENSG00000102445	ENSG00000102445			20420	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 18"""	C13orf18			Standard	NM_001286766		Approved	FLJ21562	uc010acl.3	Q9H714	OTTHUMG00000016868	ENST00000429979.1:c.285C>T	13.37:g.46946326G>A						C13orf18_uc001vbf.3_Silent_p.L28L|C13orf18_uc001vbg.3_5'UTR|C13orf18_uc010tfz.1_Intron|C13orf18_uc010acm.2_5'UTR|C13orf18_uc010acn.2_Intron|C13orf18_uc001vbe.3_Silent_p.L95L|C13orf18_uc001vbh.3_Silent_p.L95L|C13orf18_uc001vbi.3_Intron|C13orf18_uc010aco.1_Silent_p.L95L|C13orf18_uc010tga.1_Silent_p.L28L	p.L95L	NM_025113	NP_079389	Q9H714	CM018_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;2.19e-05)	3	890	-		Lung NSC(96;2.31e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	95			Ser-rich.		A8KAG9|A8XR19|B3KS87|Q5W051|Q5W053|Q6PJ74|Q6PK94|Q86XH7|Q8N5J6	Silent	SNP	ENST00000429979.1	37	c.285C>T	CCDS31970.2																																																																																				0.582	KIAA0226L-204	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044809.2		NM_025113		12	35	0	0	0	1	0	12	35		
PCDH17	27253	broad.mit.edu	37	13	58207298	58207298	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr13:58207298G>A	ENST00000377918.3	+	1	644	c.618G>A	c.(616-618)caG>caA	p.Q206Q		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	206	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GCGAGCAACAGAATCACCATA	0.592																																					Melanoma(72;952 1291 1619 12849 33676)	uc001vhq.1		NaN																	0				ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7						c.(616-618)CAG>CAA		protocadherin 17 precursor							44.0	42.0	42.0					13																	58207298		2203	4300	6503	SO:0001819	synonymous_variant	27253				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr13:58207298G>A	AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.618G>A	13.37:g.58207298G>A						PCDH17_uc010aec.1_Silent_p.Q206Q	p.Q206Q	NM_001040429	NP_001035519	O14917	PCD17_HUMAN		GBM - Glioblastoma multiforme(99;1.06e-05)	1	1510	+		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	206			Extracellular (Potential).|Cadherin 2.		A8K1R5|Q5VVW9|Q5VVX0	Silent	SNP	ENST00000377918.3	37	c.618G>A	CCDS31986.1																																																																																				0.592	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1		NM_001040429		14	21	0	0	0	1	0	14	21		
OXGR1	27199	broad.mit.edu	37	13	97639537	97639537	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr13:97639537G>A	ENST00000298440.1	-	4	720	c.477C>T	c.(475-477)atC>atT	p.I159I	OXGR1_ENST00000543457.1_Silent_p.I159I	NM_080818.3	NP_543008.3	Q96P68	OXGR1_HUMAN	oxoglutarate (alpha-ketoglutarate) receptor 1	159					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15	all_neural(89;0.0982)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.186)			CCAGTGAAATGATCCACACCA	0.478																																						uc001vmx.1		NaN																	0				ovary(1)|skin(1)	2						c.(475-477)ATC>ATT		oxoglutarate (alpha-ketoglutarate) receptor 1							131.0	97.0	109.0					13																	97639537		2203	4300	6503	SO:0001819	synonymous_variant	27199					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr13:97639537G>A	AF411109	CCDS9482.1	13q32.2	2014-04-09	2004-07-08	2004-07-09	ENSG00000165621	ENSG00000165621		"""GPCR / Class A : Orphans"""	4531	protein-coding gene	gene with protein product	"""2-oxoglutarate receptor 1"", ""alpha-ketoglutarate receptor 1"""	606922	"""G protein-coupled receptor 80"""	GPR99, GPR80		15141213, 12098360	Standard	NM_080818		Approved	P2RY15, P2Y15, aKGR	uc001vmx.1	Q96P68	OTTHUMG00000017236	ENST00000298440.1:c.477C>T	13.37:g.97639537G>A						OXGR1_uc010afr.1_Silent_p.I159I	p.I159I	NM_080818	NP_543008	Q96P68	OXGR1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.186)		4	721	-	all_neural(89;0.0982)|Medulloblastoma(90;0.163)		159			Helical; Name=4; (Potential).		Q5T5A7|Q86TL1	Silent	SNP	ENST00000298440.1	37	c.477C>T	CCDS9482.1																																																																																				0.478	OXGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045521.3		NM_080818		4	46	0	0	0	1	0	4	46		
MBNL2	10150	broad.mit.edu	37	13	98043621	98043621	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr13:98043621C>T	ENST00000376673.3	+	8	1821	c.1040C>T	c.(1039-1041)tCt>tTt	p.S347F	MBNL2_ENST00000397601.1_Missense_Mutation_p.S335F|MBNL2_ENST00000343600.4_Missense_Mutation_p.S335F|MBNL2_ENST00000345429.6_3'UTR|MBNL2_ENST00000445661.2_Missense_Mutation_p.S180F			Q5VZF2	MBNL2_HUMAN	muscleblind-like splicing regulator 2	347					mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(4)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.218)			TGCCAAGAATCTGCATTGAGA	0.343																																						uc010aft.2		NaN																	0					0						c.(1039-1041)TCT>TTT		muscleblind-like 2 isoform 1							155.0	135.0	141.0					13																	98043621		2203	4300	6503	SO:0001583	missense	10150				mRNA processing|regulation of RNA splicing|RNA splicing	cytoplasm|nucleus	RNA binding|zinc ion binding	g.chr13:98043621C>T	AF061261	CCDS9483.1, CCDS9484.1	13q31.1	2013-01-18	2012-02-23		ENSG00000139793	ENSG00000139793		"""Zinc fingers, CCCH-type domain containing"""	16746	protein-coding gene	gene with protein product		607327	"""muscleblind-like 2 (Drosophila)"""			11929853	Standard	NM_207304		Approved	MBLL, MBLL39	uc001vmz.4	Q5VZF2	OTTHUMG00000017239	ENST00000376673.3:c.1040C>T	13.37:g.98043621C>T	ENSP00000365861:p.Ser347Phe					MBNL2_uc001vmz.2_3'UTR|MBNL2_uc001vna.2_Missense_Mutation_p.S335F|MBNL2_uc001vnb.2_RNA|MBNL2_uc010tij.1_Missense_Mutation_p.S180F	p.S347F	NM_144778	NP_659002	Q5VZF2	MBNL2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.218)		8	1856	+	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		347					Q3SXY5|Q58F19|Q8NEV3|Q8TD82	Missense_Mutation	SNP	ENST00000376673.3	37	c.1040C>T		.	.	.	.	.	.	.	.	.	.	C	14.19	2.462274	0.43736	.	.	ENSG00000139793	ENST00000397601;ENST00000343600;ENST00000376673;ENST00000445661	T;T;T;T	0.51817	0.71;0.71;0.96;0.69	5.27	5.27	0.74061	.	0.204149	0.40640	N	0.001057	T	0.30823	0.0777	N	0.08118	0	0.28288	N	0.92369	B;B;B	0.26258	0.138;0.145;0.025	B;B;B	0.31016	0.018;0.123;0.021	T	0.23261	-1.0193	10	0.35671	T	0.21	.	14.1401	0.65313	0.15:0.85:0.0:0.0	.	180;347;335	B4E3F7;Q5VZF2;A2A3S3	.;MBNL2_HUMAN;.	F	335;335;347;180	ENSP00000380726:S335F;ENSP00000344214:S335F;ENSP00000365861:S347F;ENSP00000406842:S180F	ENSP00000344214:S335F	S	+	2	0	MBNL2	96841622	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.194000	0.51005	2.626000	0.88956	0.462000	0.41574	TCT		0.343	MBNL2-202	KNOWN	basic	protein_coding	protein_coding			NM_144778		30	56	0	0	0	1	0	30	56		
DOCK9	23348	broad.mit.edu	37	13	99537285	99537285	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr13:99537285G>A	ENST00000376460.1	-	21	2402	c.2322C>T	c.(2320-2322)atC>atT	p.I774I	DOCK9_ENST00000448493.2_Silent_p.I786I|DOCK9_ENST00000339416.2_Silent_p.I775I|DOCK9_ENST00000442173.1_Silent_p.I774I	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	775	DHR-1.				blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CCGAGACCGGGATGTGCTGCT	0.512																																						uc001vnt.2		NaN																	0				central_nervous_system(1)	1						c.(2323-2325)ATC>ATT		dedicator of cytokinesis 9 isoform a							55.0	56.0	55.0					13																	99537285		1951	4143	6094	SO:0001819	synonymous_variant	23348				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr13:99537285G>A	AF527605	CCDS45062.1	13q32.3	2013-01-10			ENSG00000088387	ENSG00000088387		"""Pleckstrin homology (PH) domain containing"""	14132	protein-coding gene	gene with protein product	"""zizimin1"""	607325				12172552, 12432077	Standard	NM_015296		Approved	KIAA1058, ZIZ1	uc001vnt.2	Q9BZ29	OTTHUMG00000017260	ENST00000376460.1:c.2322C>T	13.37:g.99537285G>A						DOCK9_uc001vnw.2_Silent_p.I774I|DOCK9_uc001vnv.1_RNA|DOCK9_uc010tir.1_Silent_p.I775I|DOCK9_uc010tis.1_Silent_p.I774I|DOCK9_uc010tit.1_Silent_p.I775I|DOCK9_uc010afu.1_Silent_p.I621I	p.I775I	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN			21	2380	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		775			DHR-1.		B3KX25|E9PFM9|Q5JUD4|Q5JUD6|Q5T2Q1|Q5TAN8|Q9BZ25|Q9BZ26|Q9BZ27|Q9BZ28|Q9UPU4	Silent	SNP	ENST00000376460.1	37	c.2325C>T	CCDS45062.1																																																																																				0.512	DOCK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045566.1		NM_015296		10	9	0	0	0	1	0	10	9		
CLYBL	171425	broad.mit.edu	37	13	100518572	100518572	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr13:100518572T>C	ENST00000376360.1	+	6	740	c.713T>C	c.(712-714)cTc>cCc	p.L238P	CLYBL_ENST00000376355.3_Missense_Mutation_p.L204P|CLYBL_ENST00000376354.1_Missense_Mutation_p.L204P|CLYBL_ENST00000444838.2_Missense_Mutation_p.L204P|CLYBL_ENST00000339105.4_Missense_Mutation_p.L238P			Q8N0X4	CLYBL_HUMAN	citrate lyase beta like	238						mitochondrion (GO:0005739)	lyase activity (GO:0016829)|metal ion binding (GO:0046872)			NS(1)|kidney(6)|large_intestine(6)|lung(10)|skin(2)	25	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GCCTTTGGTCTCCAAGCCATA	0.473																																						uc001vok.2		NaN																	0					0						c.(712-714)CTC>CCC		citrate lyase beta like precursor							101.0	101.0	101.0					13																	100518572		2203	4300	6503	SO:0001583	missense	171425				cellular aromatic compound metabolic process	citrate lyase complex|mitochondrion	citrate (pro-3S)-lyase activity|metal ion binding	g.chr13:100518572T>C	AF428253	CCDS32002.1	13q32.3	2011-04-08			ENSG00000125246	ENSG00000125246			18355	protein-coding gene	gene with protein product		609686					Standard	XM_005254030		Approved	CLB	uc001vok.3	Q8N0X4	OTTHUMG00000017278	ENST00000376360.1:c.713T>C	13.37:g.100518572T>C	ENSP00000365538:p.Leu238Pro					CLYBL_uc010tix.1_3'UTR|CLYBL_uc010tiy.1_Missense_Mutation_p.L204P	p.L238P	NM_206808	NP_996531	Q8N0X4	CLYBL_HUMAN			6	727	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		238					Q5W0F7|Q8TDH8	Missense_Mutation	SNP	ENST00000376360.1	37	c.713T>C	CCDS32002.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.377173	0.82682	.	.	ENSG00000125246	ENST00000376355;ENST00000376360;ENST00000444838;ENST00000376354;ENST00000339105;ENST00000419700	T;T;T;T;T;T	0.59906	1.42;1.42;1.42;1.42;1.42;0.23	5.66	5.66	0.87406	Aldehyde-lyase domain (1);Pyruvate/Phosphoenolpyruvate kinase (2);	0.000000	0.85682	D	0.000000	D	0.82305	0.5008	M	0.93854	3.465	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.995	D	0.87132	0.2197	10	0.87932	D	0	-13.1357	16.1823	0.81920	0.0:0.0:0.0:1.0	.	204;238	B4DU60;Q8N0X4	.;CLYBL_HUMAN	P	204;238;204;204;238;1	ENSP00000365533:L204P;ENSP00000365538:L238P;ENSP00000404768:L204P;ENSP00000365532:L204P;ENSP00000342991:L238P;ENSP00000396574:L1P	ENSP00000342991:L238P	L	+	2	0	CLYBL	99316573	1.000000	0.71417	0.554000	0.28268	0.929000	0.56500	7.541000	0.82084	2.274000	0.75844	0.477000	0.44152	CTC		0.473	CLYBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045611.1				21	67	0	0	0	1	0	21	67		
NALCN	259232	broad.mit.edu	37	13	102051408	102051408	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr13:102051408G>A	ENST00000251127.6	-	2	151	c.70C>T	c.(70-72)Ctg>Ttg	p.L24L	NALCN_ENST00000376196.3_Silent_p.L24L|NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376200.5_Silent_p.L24L	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	24					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TTATCCGACAGAGACTCATCA	0.443																																						uc001vox.1		NaN																	0				ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16						c.(70-72)CTG>TTG		voltage gated channel like 1							151.0	127.0	135.0					13																	102051408		2203	4300	6503	SO:0001819	synonymous_variant	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:102051408G>A	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.70C>T	13.37:g.102051408G>A						NALCN_uc001voy.2_5'UTR|NALCN_uc001voz.2_Silent_p.L24L|NALCN_uc001vpa.2_Silent_p.L24L	p.L24L	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN			2	259	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		24			Cytoplasmic (Potential).		Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Silent	SNP	ENST00000251127.6	37	c.70C>T	CCDS9498.1																																																																																				0.443	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2		NM_052867		24	44	0	0	0	1	0	24	44		
SLC10A2	6555	broad.mit.edu	37	13	103718286	103718286	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr13:103718286C>T	ENST00000245312.3	-	1	910	c.314G>A	c.(313-315)tGc>tAc	p.C105Y		NM_000452.2	NP_000443	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	105					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)	bile acid:sodium symporter activity (GO:0008508)			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)				Aciclovir(DB00787)|Cyclosporine(DB00091)|Ursodeoxycholic acid(DB01586)|Valaciclovir(DB00577)	TCCAGGGCAGCATCCTATAAT	0.512																																						uc001vpy.3		NaN																	0				ovary(3)|skin(1)	4						c.(313-315)TGC>TAC		solute carrier family 10 (sodium/bile acid							95.0	90.0	92.0					13																	103718286		2203	4300	6503	SO:0001583	missense	6555				bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity	g.chr13:103718286C>T	U10417	CCDS9506.1	13q33	2013-07-18	2013-07-18		ENSG00000125255	ENSG00000125255		"""Solute carriers"""	10906	protein-coding gene	gene with protein product		601295		ASBT, ISBT		8661017	Standard	NM_000452		Approved		uc001vpy.4	Q12908	OTTHUMG00000017313	ENST00000245312.3:c.314G>A	13.37:g.103718286C>T	ENSP00000245312:p.Cys105Tyr						p.C105Y	NM_000452	NP_000443	Q12908	NTCP2_HUMAN			1	911	-	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)		105			Extracellular (Potential).		A1L4F4|Q13839	Missense_Mutation	SNP	ENST00000245312.3	37	c.314G>A	CCDS9506.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.355787	0.82243	.	.	ENSG00000125255	ENST00000245312	T	0.12672	2.66	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.54663	0.1872	H	0.96889	3.9	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.72297	-0.4335	10	0.87932	D	0	-3.906	18.848	0.92215	0.0:1.0:0.0:0.0	.	105	Q12908	NTCP2_HUMAN	Y	105	ENSP00000245312:C105Y	ENSP00000245312:C105Y	C	-	2	0	SLC10A2	102516287	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	7.798000	0.85924	2.451000	0.82905	0.655000	0.94253	TGC		0.512	SLC10A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045716.1				67	6	0	0	0	1	0	67	6		
IRS2	8660	broad.mit.edu	37	13	110434606	110434606	+	Silent	SNP	T	T	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr13:110434606T>G	ENST00000375856.3	-	1	4309	c.3795A>C	c.(3793-3795)ccA>ccC	p.P1265P		NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	1265	Poly-Pro.				brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular response to glucose stimulus (GO:0071333)|cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid homeostasis (GO:0055088)|mammary gland development (GO:0030879)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of kinase activity (GO:0033673)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mesenchymal cell proliferation (GO:0002053)|regulation of lipid metabolic process (GO:0019216)|response to glucose (GO:0009749)|signal transduction (GO:0007165)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			gcggctggggtggcagcCCGG	0.701																																					Melanoma(100;613 2409 40847)	uc001vqv.2		NaN																	0				large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|skin(1)|ovary(1)|kidney(1)	8						c.(3793-3795)CCA>CCC		insulin receptor substrate 2							7.0	9.0	8.0					13																	110434606		1938	3917	5855	SO:0001819	synonymous_variant	8660				fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus	cytosol|plasma membrane	insulin receptor binding|signal transducer activity	g.chr13:110434606T>G	AB000732	CCDS9510.1	13q34	2013-01-10			ENSG00000185950	ENSG00000185950		"""Pleckstrin homology (PH) domain containing"""	6126	protein-coding gene	gene with protein product		600797				9312143	Standard	NM_003749		Approved		uc001vqv.3	Q9Y4H2	OTTHUMG00000017338	ENST00000375856.3:c.3795A>C	13.37:g.110434606T>G							p.P1265P	NM_003749	NP_003740	Q9Y4H2	IRS2_HUMAN	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)		1	4309	-	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	1265			Poly-Pro.		Q96RR2|Q9BZG0|Q9Y6I5	Silent	SNP	ENST00000375856.3	37	c.3795A>C	CCDS9510.1																																																																																				0.701	IRS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045755.1		NM_003749		8	6	0	0	0	1	0	8	6		
TEP1	7011	broad.mit.edu	37	14	20856168	20856168	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr14:20856168G>C	ENST00000262715.5	-	18	2620	c.2580C>G	c.(2578-2580)gaC>gaG	p.D860E	TEP1_ENST00000556935.1_Missense_Mutation_p.D752E	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	860					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		TGAATATTTTGTCCATTTGGC	0.507																																						uc001vxe.2		NaN																	0				ovary(5)	5						c.(2578-2580)GAC>GAG		telomerase-associated protein 1							90.0	81.0	84.0					14																	20856168		2203	4300	6503	SO:0001583	missense	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20856168G>C		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.2580C>G	14.37:g.20856168G>C	ENSP00000262715:p.Asp860Glu					TEP1_uc010ahk.2_Missense_Mutation_p.D210E|TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Missense_Mutation_p.D752E	p.D860E	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	18	2620	-	all_cancers(95;0.00123)	all_lung(585;0.235)	860					A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	37	c.2580C>G	CCDS9548.1	.	.	.	.	.	.	.	.	.	.	G	19.47	3.834153	0.71373	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935	T;T	0.64085	-0.08;-0.03	5.2	1.15	0.20763	.	0.050714	0.85682	D	0.000000	T	0.73225	0.3560	M	0.69823	2.125	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.80764	0.994;0.994;0.968	T	0.72283	-0.4339	10	0.66056	D	0.02	-22.0739	9.0571	0.36412	0.4275:0.0:0.5725:0.0	.	752;210;860	G3V5X7;G3V2A4;Q99973	.;.;TEP1_HUMAN	E	860;860;752	ENSP00000262715:D860E;ENSP00000452574:D752E	ENSP00000262715:D860E	D	-	3	2	TEP1	19926008	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.577000	0.36515	0.335000	0.23614	0.591000	0.81541	GAC		0.507	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2		NM_007110		14	18	0	0	0	1	0	14	18		
RNF31	55072	broad.mit.edu	37	14	24617000	24617001	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr14:24617000_24617001GG>AA	ENST00000324103.6	+	1	413_414	c.93_94GG>AA	c.(91-96)ctGGag>ctAAag	p.E32K	PSME2_ENST00000216802.5_5'Flank|RNF31_ENST00000382687.3_5'Flank|RNF31_ENST00000557878.1_Intron|PSME2_ENST00000560410.1_5'Flank|PSME2_ENST00000471700.2_5'Flank|RNF31_ENST00000559275.1_Intron	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	32	Polyubiquitin-binding.				CD40 signaling pathway (GO:0023035)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein linear polyubiquitination (GO:0097039)|protein polyubiquitination (GO:0000209)|T cell receptor signaling pathway (GO:0050852)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|LUBAC complex (GO:0071797)	ligase activity (GO:0016874)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		CGTTTTCCCTGGAGCAGCTCCG	0.703																																						uc001wmn.1		NaN																	0				large_intestine(1)|ovary(1)	2						c.(91-96)CTGGAG>CTAAAG		ring finger protein 31																																				SO:0001583	missense	55072				CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway	CD40 receptor complex|internal side of plasma membrane|LUBAC complex	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr14:24617000_24617001GG>AA	AK000973	CCDS41931.1	14q11.2	2012-09-20			ENSG00000092098	ENSG00000092098		"""RING-type (C3HC4) zinc fingers"""	16031	protein-coding gene	gene with protein product	"""HOIL-1-interacting protein"""	612487				10422847	Standard	NM_017999		Approved	ZIBRA, FLJ10111, FLJ23501, HOIP	uc001wmn.1	Q96EP0	OTTHUMG00000028798	Exception_encountered	14.37:g.24617000_24617001delinsAA	ENSP00000315112:p.Glu32Lys					PSME2_uc001wmj.2_5'Flank|PSME2_uc001wmk.2_5'Flank|RNF31_uc001wml.1_Intron|RNF31_uc001wmm.1_RNA|RNF31_uc010alg.1_5'Flank	p.E32K	NM_017999	NP_060469	Q96EP0	RNF31_HUMAN		GBM - Glioblastoma multiforme(265;0.00861)	1	342_343	+			32			Polyubiquitin-binding.		A0A962|Q86VI2|Q8TEI0|Q96GB4|Q96NF1|Q9H5F1|Q9NWD2	Missense_Mutation	DNP	ENST00000324103.6	37	c.93_94GG>AA	CCDS41931.1																																																																																				0.703	RNF31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071921.3		NM_017999		2	0	0	0	0	1	0	2	0		
RNF31	55072	broad.mit.edu	37	14	24619469	24619469	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr14:24619469G>A	ENST00000324103.6	+	7	1329	c.1009G>A	c.(1009-1011)Gag>Aag	p.E337K	RNF31_ENST00000382687.3_Missense_Mutation_p.E186K|RP11-468E2.4_ENST00000558468.1_5'Flank|RNF31_ENST00000559275.1_Missense_Mutation_p.E186K	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	337	Polyubiquitin-binding.				CD40 signaling pathway (GO:0023035)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein linear polyubiquitination (GO:0097039)|protein polyubiquitination (GO:0000209)|T cell receptor signaling pathway (GO:0050852)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|LUBAC complex (GO:0071797)	ligase activity (GO:0016874)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E337Q(1)		breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		GTTGGGAACTGAGGGTCCCCA	0.602																																						uc001wmn.1		NaN																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(1009-1011)GAG>AAG		ring finger protein 31							65.0	72.0	69.0					14																	24619469		1995	4180	6175	SO:0001583	missense	55072				CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway	CD40 receptor complex|internal side of plasma membrane|LUBAC complex	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr14:24619469G>A	AK000973	CCDS41931.1	14q11.2	2012-09-20			ENSG00000092098	ENSG00000092098		"""RING-type (C3HC4) zinc fingers"""	16031	protein-coding gene	gene with protein product	"""HOIL-1-interacting protein"""	612487				10422847	Standard	NM_017999		Approved	ZIBRA, FLJ10111, FLJ23501, HOIP	uc001wmn.1	Q96EP0	OTTHUMG00000028798	ENST00000324103.6:c.1009G>A	14.37:g.24619469G>A	ENSP00000315112:p.Glu337Lys					RNF31_uc001wml.1_Missense_Mutation_p.E186K|RNF31_uc001wmm.1_Intron|RNF31_uc010alg.1_Missense_Mutation_p.E152K|RNF31_uc001wmo.1_5'Flank|RNF31_uc001wmp.2_5'Flank	p.E337K	NM_017999	NP_060469	Q96EP0	RNF31_HUMAN		GBM - Glioblastoma multiforme(265;0.00861)	7	1258	+			337			Polyubiquitin-binding.		A0A962|Q86VI2|Q8TEI0|Q96GB4|Q96NF1|Q9H5F1|Q9NWD2	Missense_Mutation	SNP	ENST00000324103.6	37	c.1009G>A	CCDS41931.1	.	.	.	.	.	.	.	.	.	.	G	6.392	0.440528	0.12104	.	.	ENSG00000092098	ENST00000324103;ENST00000382687	T;T	0.44083	0.93;0.93	4.99	4.09	0.47781	.	0.249907	0.37095	N	0.002254	T	0.36936	0.0985	L	0.44542	1.39	0.09310	N	0.999994	B;B;B	0.32717	0.381;0.247;0.361	B;B;B	0.34652	0.069;0.057;0.187	T	0.30001	-0.9993	10	0.46703	T	0.11	1.6785	12.6595	0.56806	0.0:0.1667:0.8333:0.0	.	152;337;186	B3KV71;Q96EP0;Q96EP0-3	.;RNF31_HUMAN;.	K	337;186	ENSP00000315112:E337K;ENSP00000372134:E186K	ENSP00000315112:E337K	E	+	1	0	RNF31	23689309	0.771000	0.28555	0.044000	0.18714	0.003000	0.03518	2.984000	0.49353	1.306000	0.44926	-0.175000	0.13238	GAG		0.602	RNF31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071921.3		NM_017999		36	2	0	0	0	1	0	36	2		
RNF31	55072	broad.mit.edu	37	14	24619594	24619594	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr14:24619594G>A	ENST00000324103.6	+	7	1454	c.1134G>A	c.(1132-1134)ctG>ctA	p.L378L	RNF31_ENST00000382687.3_Silent_p.L227L|RP11-468E2.4_ENST00000558468.1_5'Flank|RNF31_ENST00000559275.1_Silent_p.L227L	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	378	Polyubiquitin-binding.				CD40 signaling pathway (GO:0023035)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein linear polyubiquitination (GO:0097039)|protein polyubiquitination (GO:0000209)|T cell receptor signaling pathway (GO:0050852)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|LUBAC complex (GO:0071797)	ligase activity (GO:0016874)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		GACCTCGGCTGGCCCAGCCTC	0.567																																						uc001wmn.1		NaN																	0				large_intestine(1)|ovary(1)	2						c.(1132-1134)CTG>CTA		ring finger protein 31							47.0	53.0	51.0					14																	24619594		2081	4208	6289	SO:0001819	synonymous_variant	55072				CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway	CD40 receptor complex|internal side of plasma membrane|LUBAC complex	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr14:24619594G>A	AK000973	CCDS41931.1	14q11.2	2012-09-20			ENSG00000092098	ENSG00000092098		"""RING-type (C3HC4) zinc fingers"""	16031	protein-coding gene	gene with protein product	"""HOIL-1-interacting protein"""	612487				10422847	Standard	NM_017999		Approved	ZIBRA, FLJ10111, FLJ23501, HOIP	uc001wmn.1	Q96EP0	OTTHUMG00000028798	ENST00000324103.6:c.1134G>A	14.37:g.24619594G>A						RNF31_uc001wml.1_Silent_p.L227L|RNF31_uc001wmm.1_Intron|RNF31_uc010alg.1_Silent_p.L193L|RNF31_uc001wmo.1_5'Flank|RNF31_uc001wmp.2_5'Flank	p.L378L	NM_017999	NP_060469	Q96EP0	RNF31_HUMAN		GBM - Glioblastoma multiforme(265;0.00861)	7	1383	+			378			RanBP2-type 2.|Polyubiquitin-binding.		A0A962|Q86VI2|Q8TEI0|Q96GB4|Q96NF1|Q9H5F1|Q9NWD2	Silent	SNP	ENST00000324103.6	37	c.1134G>A	CCDS41931.1																																																																																				0.567	RNF31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071921.3		NM_017999		53	4	0	0	0	1	0	53	4		
RNF31	55072	broad.mit.edu	37	14	24620038	24620038	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr14:24620038G>A	ENST00000324103.6	+	8	1749	c.1429G>A	c.(1429-1431)Gag>Aag	p.E477K	RNF31_ENST00000382687.3_Missense_Mutation_p.E326K|RP11-468E2.4_ENST00000558468.1_5'Flank|RNF31_ENST00000559275.1_Missense_Mutation_p.E326K	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	477	Polyubiquitin-binding.				CD40 signaling pathway (GO:0023035)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein linear polyubiquitination (GO:0097039)|protein polyubiquitination (GO:0000209)|T cell receptor signaling pathway (GO:0050852)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|LUBAC complex (GO:0071797)	ligase activity (GO:0016874)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		TGGAGATCCTGAGAAGCAGCG	0.632																																						uc001wmn.1		NaN																	0				large_intestine(1)|ovary(1)	2						c.(1429-1431)GAG>AAG		ring finger protein 31							35.0	39.0	38.0					14																	24620038		2011	4163	6174	SO:0001583	missense	55072				CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway	CD40 receptor complex|internal side of plasma membrane|LUBAC complex	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr14:24620038G>A	AK000973	CCDS41931.1	14q11.2	2012-09-20			ENSG00000092098	ENSG00000092098		"""RING-type (C3HC4) zinc fingers"""	16031	protein-coding gene	gene with protein product	"""HOIL-1-interacting protein"""	612487				10422847	Standard	NM_017999		Approved	ZIBRA, FLJ10111, FLJ23501, HOIP	uc001wmn.1	Q96EP0	OTTHUMG00000028798	ENST00000324103.6:c.1429G>A	14.37:g.24620038G>A	ENSP00000315112:p.Glu477Lys					RNF31_uc001wml.1_Missense_Mutation_p.E326K|RNF31_uc001wmm.1_Intron|RNF31_uc010alg.1_Missense_Mutation_p.E292K|RNF31_uc001wmo.1_5'Flank|RNF31_uc001wmp.2_5'Flank	p.E477K	NM_017999	NP_060469	Q96EP0	RNF31_HUMAN		GBM - Glioblastoma multiforme(265;0.00861)	8	1678	+			477			Polyubiquitin-binding.		A0A962|Q86VI2|Q8TEI0|Q96GB4|Q96NF1|Q9H5F1|Q9NWD2	Missense_Mutation	SNP	ENST00000324103.6	37	c.1429G>A	CCDS41931.1	.	.	.	.	.	.	.	.	.	.	G	16.18	3.051481	0.55218	.	.	ENSG00000092098	ENST00000324103;ENST00000382687	T;T	0.51817	0.69;0.69	5.8	5.8	0.92144	.	0.192639	0.44285	D	0.000463	T	0.67097	0.2857	M	0.63843	1.955	0.40011	D	0.975283	D;D;D	0.71674	0.996;0.997;0.998	P;D;D	0.80764	0.905;0.985;0.994	T	0.69300	-0.5181	10	0.87932	D	0	-11.3719	16.9776	0.86317	0.0:0.0:1.0:0.0	.	292;477;326	B3KV71;Q96EP0;Q96EP0-3	.;RNF31_HUMAN;.	K	477;326	ENSP00000315112:E477K;ENSP00000372134:E326K	ENSP00000315112:E477K	E	+	1	0	RNF31	23689878	1.000000	0.71417	0.929000	0.37066	0.268000	0.26511	4.456000	0.60081	2.755000	0.94549	0.655000	0.94253	GAG		0.632	RNF31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071921.3		NM_017999		28	1	0	0	0	1	0	28	1		
FOXG1	2290	broad.mit.edu	37	14	29237037	29237037	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr14:29237037C>G	ENST00000313071.4	+	1	751	c.552C>G	c.(550-552)ttC>ttG	p.F184L	RP11-966I7.1_ENST00000549487.1_RNA|RP11-966I7.1_ENST00000551395.1_RNA|RP11-966I7.1_ENST00000546560.1_RNA|FOXG1_ENST00000382535.3_Missense_Mutation_p.F184L	NM_005249.4	NP_005240.3	P55316	FOXG1_HUMAN	forkhead box G1	184					aging (GO:0007568)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|dorsal/ventral pattern formation (GO:0009953)|inner ear morphogenesis (GO:0042472)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron fate determination (GO:0048664)|positive regulation of cell cycle (GO:0045787)|positive regulation of neuroblast proliferation (GO:0002052)|pyramidal neuron migration (GO:0021852)|regulation of mitotic cell cycle (GO:0007346)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		AGCCGCCGTTCAGCTACAACG	0.627																																						uc001wqe.2		NaN																	0				ovary(2)|lung(2)	4						c.(550-552)TTC>TTG		forkhead box G1							37.0	39.0	38.0					14																	29237037		2203	4300	6503	SO:0001583	missense	2290				axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr14:29237037C>G		CCDS9636.1	14q11-q13	2007-10-05	2007-05-16	2007-05-16	ENSG00000176165	ENSG00000176165		"""Forkhead boxes"""	3811	protein-coding gene	gene with protein product		164874	"""forkhead box G1B"", ""forkhead box G1C"", ""forkhead box G1A"""	FKHL2, FOXG1B, FKHL4, FKH2, FKHL1, FOXG1C, FKHL3, FOXG1A		7959731, 17260156	Standard	NM_005249		Approved	HFK2, QIN, BF1, HFK1, HFK3, HBF-3	uc001wqe.4	P55316	OTTHUMG00000140187	ENST00000313071.4:c.552C>G	14.37:g.29237037C>G	ENSP00000339004:p.Phe184Leu						p.F184L	NM_005249	NP_005240	P55316	FOXG1_HUMAN	LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)	1	751	+			184			Fork-head.		A6NFY2|P55315|Q14488|Q86XT7	Missense_Mutation	SNP	ENST00000313071.4	37	c.552C>G	CCDS9636.1	.	.	.	.	.	.	.	.	.	.	C	19.98	3.926348	0.73327	.	.	ENSG00000176165	ENST00000382535;ENST00000313071	D;D	0.95342	-3.68;-3.68	3.09	3.09	0.35607	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);Transcription factor, fork head, conserved site (1);	0.000000	0.85682	U	0.000000	D	0.93667	0.7977	N	0.25426	0.745	0.53688	D	0.999974	D	0.76494	0.999	D	0.79108	0.992	D	0.92798	0.6254	10	0.72032	D	0.01	.	8.0501	0.30572	0.0:0.8783:0.0:0.1217	.	184	P55316	FOXG1_HUMAN	L	184	ENSP00000371975:F184L;ENSP00000339004:F184L	ENSP00000339004:F184L	F	+	3	2	FOXG1	28306788	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.125000	0.50469	1.265000	0.44215	0.298000	0.19748	TTC		0.627	FOXG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276559.3				20	1	0	0	0	1	0	20	1		
HECTD1	25831	broad.mit.edu	37	14	31598292	31598292	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr14:31598292G>C	ENST00000399332.1	-	25	4773	c.4285C>G	c.(4285-4287)Ctt>Gtt	p.L1429V	HECTD1_ENST00000553700.1_Missense_Mutation_p.L1429V	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	1429	Ser-rich.				neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		GCAGATGAAAGAACAACAATT	0.453																																						uc001wrc.1		NaN																	0				ovary(3)|large_intestine(1)|lung(1)	5						c.(4285-4287)CTT>GTT		HECT domain containing 1							150.0	136.0	140.0					14																	31598292		1977	4161	6138	SO:0001583	missense	25831				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity	g.chr14:31598292G>C	AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"""Ankyrin repeat domain containing"""	20157	protein-coding gene	gene with protein product			"""HECT domain containing 1"""			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.4285C>G	14.37:g.31598292G>C	ENSP00000382269:p.Leu1429Val					HECTD1_uc001wrb.1_5'UTR|HECTD1_uc001wrd.1_Missense_Mutation_p.L897V	p.L1429V	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)	25	4774	-	Hepatocellular(127;0.0877)|Breast(36;0.176)		1429			Ser-rich.		D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Missense_Mutation	SNP	ENST00000399332.1	37	c.4285C>G	CCDS41939.1	.	.	.	.	.	.	.	.	.	.	G	15.31	2.796435	0.50208	.	.	ENSG00000092148	ENST00000553700;ENST00000261312;ENST00000399332;ENST00000553957	T;T;T	0.42900	0.96;0.96;1.33	5.86	5.86	0.93980	.	0.238321	0.25854	U	0.027879	T	0.50531	0.1621	N	0.19112	0.55	0.80722	D	1	P;P	0.52842	0.956;0.956	D;P	0.65010	0.931;0.899	T	0.36311	-0.9753	10	0.30078	T	0.28	-8.9544	20.5632	0.99335	0.0:0.0:1.0:0.0	.	1429;1429	D3DS86;Q9ULT8	.;HECD1_HUMAN	V	1429;1431;1429;856	ENSP00000450697:L1429V;ENSP00000382269:L1429V;ENSP00000451860:L856V	ENSP00000261312:L1431V	L	-	1	0	HECTD1	30668043	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.130000	0.71663	2.937000	0.99478	0.650000	0.86243	CTT		0.453	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1				36	55	0	0	0	1	0	36	55		
FANCM	57697	broad.mit.edu	37	14	45668041	45668041	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr14:45668041G>A	ENST00000267430.5	+	22	5996	c.5911G>A	c.(5911-5913)Gag>Aag	p.E1971K	FANCM_ENST00000542564.2_Missense_Mutation_p.E1945K	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1971	Interaction with FAAP24 and EME1.				DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						TAATAAAAGTGAGGCACTCCA	0.348								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													uc001wwd.3		NaN																	0				ovary(3)|lung(2)|breast(2)	7						c.(5911-5913)GAG>AAG	Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi anemia, complementation group M							68.0	71.0	70.0					14																	45668041		2203	4300	6503	SO:0001583	missense	57697	Fanconi_Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding	g.chr14:45668041G>A	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"""Fanconi anemia, complementation groups"""	23168	protein-coding gene	gene with protein product		609644	"""KIAA1596"""	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.5911G>A	14.37:g.45668041G>A	ENSP00000267430:p.Glu1971Lys					FANCM_uc010anf.2_Missense_Mutation_p.E1945K|FANCM_uc001wwe.3_Missense_Mutation_p.E1507K|FANCM_uc010ang.2_Missense_Mutation_p.E1220K	p.E1971K	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN			22	6010	+			1971			Interaction with FAAP24 and EME1.		B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Missense_Mutation	SNP	ENST00000267430.5	37	c.5911G>A	CCDS32070.1	.	.	.	.	.	.	.	.	.	.	G	14.81	2.647428	0.47258	.	.	ENSG00000187790	ENST00000267430;ENST00000542564;ENST00000556250	T;T;T	0.13901	2.55;2.55;2.55	5.71	4.73	0.59995	RuvA domain 2-like (1);	1.005790	0.07983	N	0.985955	T	0.16685	0.0401	L	0.58101	1.795	0.09310	N	1	P;P	0.43094	0.799;0.799	B;B	0.33339	0.162;0.162	T	0.26430	-1.0103	10	0.62326	D	0.03	.	13.929	0.63981	0.0793:0.0:0.9207:0.0	.	1945;1971	B2RTQ9;Q8IYD8	.;FANCM_HUMAN	K	1971;1945;1487	ENSP00000267430:E1971K;ENSP00000442493:E1945K;ENSP00000452033:E1487K	ENSP00000267430:E1971K	E	+	1	0	FANCM	44737791	0.951000	0.32395	0.023000	0.16930	0.779000	0.44077	2.983000	0.49345	1.242000	0.43836	0.655000	0.94253	GAG		0.348	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1		XM_048128		31	5	0	0	0	1	0	31	5		
CNIH1	10175	broad.mit.edu	37	14	54898890	54898890	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr14:54898890G>C	ENST00000216416.4	-	3	302	c.199C>G	c.(199-201)Ctt>Gtt	p.L67V	CNIH1_ENST00000556113.1_Missense_Mutation_p.L67V|CNIH1_ENST00000557690.1_Missense_Mutation_p.L83V|CNIH1_ENST00000395573.4_Missense_Mutation_p.L67V|CNIH1_ENST00000553660.1_Missense_Mutation_p.L44V	NM_005776.2	NP_005767.1	O95406	CNIH1_HUMAN	cornichon family AMPA receptor auxiliary protein 1	67					immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|signal transduction (GO:0007165)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)											GCTGCACAAAGAAACATGACA	0.388																																						uc001xat.1		NaN																	0					0						c.(199-201)CTT>GTT		cornichon-like							49.0	44.0	46.0					14																	54898890		2200	4292	6492	SO:0001583	missense	10175				immune response|intracellular signal transduction|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane|integral to membrane		g.chr14:54898890G>C	AF031379	CCDS9717.1	14q22.1	2013-08-28	2013-08-28	2013-08-28	ENSG00000100528	ENSG00000100528			19431	protein-coding gene	gene with protein product		611287	"""cornichon homolog (Drosophila)"""	CNIH		10209299	Standard	NM_005776		Approved	TGAM77, CNIL	uc001xat.1	O95406	OTTHUMG00000152335	ENST00000216416.4:c.199C>G	14.37:g.54898890G>C	ENSP00000216416:p.Leu67Val					CNIH_uc001xav.1_Missense_Mutation_p.L67V	p.L67V	NM_005776	NP_005767	O95406	CNIH_HUMAN		GBM - Glioblastoma multiforme(112;0.00341)	3	302	-			67			Helical; (Potential).		Q3SYM7	Missense_Mutation	SNP	ENST00000216416.4	37	c.199C>G	CCDS9717.1	.	.	.	.	.	.	.	.	.	.	G	15.03	2.711328	0.48517	.	.	ENSG00000100528	ENST00000395573;ENST00000216416;ENST00000553660;ENST00000557690;ENST00000556113	T;T;T;T;T	0.61742	0.08;0.08;0.08;0.08;0.08	6.04	6.04	0.98038	.	0.123149	0.56097	D	0.000026	T	0.77485	0.4137	M	0.82193	2.58	0.80722	D	1	P;B	0.44946	0.846;0.108	P;B	0.57244	0.816;0.259	T	0.76594	-0.2902	10	0.52906	T	0.07	-10.1771	20.5948	0.99439	0.0:0.0:1.0:0.0	.	67;67	A8MVW4;O95406	.;CNIH_HUMAN	V	67;67;44;83;67	ENSP00000378940:L67V;ENSP00000216416:L67V;ENSP00000452457:L44V;ENSP00000451852:L83V;ENSP00000451142:L67V	ENSP00000216416:L67V	L	-	1	0	CNIH	53968640	1.000000	0.71417	1.000000	0.80357	0.682000	0.39822	4.977000	0.63792	2.873000	0.98535	0.563000	0.77884	CTT		0.388	CNIH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276896.2		NM_005776		3	2	0	0	0	1	0	3	2		
L3HYPDH	112849	broad.mit.edu	37	14	59950883	59950883	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr14:59950883C>T	ENST00000247194.4	-	1	265	c.152G>A	c.(151-153)cGg>cAg	p.R51Q	JKAMP_ENST00000261247.9_5'Flank|JKAMP_ENST00000425728.2_5'Flank|JKAMP_ENST00000554271.1_5'Flank|L3HYPDH_ENST00000487285.1_5'Flank|JKAMP_ENST00000356057.5_5'Flank|RP11-701B16.2_ENST00000554253.1_RNA|JKAMP_ENST00000556985.1_5'Flank	NM_144581.1	NP_653182.1	Q96EM0	T3HPD_HUMAN	L-3-hydroxyproline dehydratase (trans-)	51					metabolic process (GO:0008152)		hydro-lyase activity (GO:0016836)|trans-L-3-hydroxyproline dehydratase activity (GO:0050346)									L-Proline(DB00172)	CATGTAGCGCCGCTTGGCCAG	0.701											OREG0022712	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001xee.1		NaN																	0				ovary(1)	1						c.(151-153)CGG>CAG		proline racemase-like	L-Proline(DB00172)						16.0	14.0	15.0					14																	59950883		2109	4189	6298	SO:0001583	missense	112849						proline racemase activity	g.chr14:59950883C>T	AI762327	CCDS9739.1	14q23.1	2012-08-15	2012-08-15	2012-08-15	ENSG00000126790	ENSG00000126790	4.2.1.77		20488	protein-coding gene	gene with protein product	"""trans-L-3-hydroxyproline dehydratase"""	614811	"""chromosome 14 open reading frame 149"""	C14orf149		22528483	Standard	NM_144581		Approved	FLJ25436	uc001xee.1	Q96EM0	OTTHUMG00000028941	ENST00000247194.4:c.152G>A	14.37:g.59950883C>T	ENSP00000247194:p.Arg51Gln		OREG0022712	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1042	C14orf149_uc010trx.1_Missense_Mutation_p.R51Q|JKAMP_uc001xef.3_5'Flank|JKAMP_uc001xeh.3_5'Flank|JKAMP_uc001xeg.3_5'Flank|JKAMP_uc010try.1_5'Flank|JKAMP_uc001xei.3_5'Flank	p.R51Q	NM_144581	NP_653182	Q96EM0	PRCM_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.14)	1	191	-			51					Q96LJ5	Missense_Mutation	SNP	ENST00000247194.4	37	c.152G>A	CCDS9739.1	.	.	.	.	.	.	.	.	.	.	C	34	5.306760	0.95629	.	.	ENSG00000126790	ENST00000247194	T	0.19669	2.13	4.53	3.64	0.41730	.	0.000000	0.85682	D	0.000000	T	0.52964	0.1767	M	0.91663	3.23	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.99;0.994	T	0.65059	-0.6260	10	0.87932	D	0	-8.8497	13.1869	0.59686	0.0:0.9216:0.0:0.0784	.	51;51	B4DGY8;Q96EM0	.;PRCM_HUMAN	Q	51	ENSP00000247194:R51Q	ENSP00000247194:R51Q	R	-	2	0	C14orf149	59020636	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	3.956000	0.56722	1.251000	0.43983	0.455000	0.32223	CGG		0.701	L3HYPDH-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072254.5		NM_144581		5	6	0	0	0	1	0	5	6		
PRKCH	5583	broad.mit.edu	37	14	61995799	61995799	+	Silent	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr14:61995799G>C	ENST00000332981.5	+	11	1825	c.1440G>C	c.(1438-1440)ctG>ctC	p.L480L	PRKCH_ENST00000555082.1_Silent_p.L319L|RP11-47I22.4_ENST00000556347.1_5'Flank	NM_006255.3	NP_006246.2	P24723	KPCL_HUMAN	protein kinase C, eta	480	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood coagulation (GO:0007596)|negative regulation of glial cell apoptotic process (GO:0034351)|platelet activation (GO:0030168)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein kinase C signaling (GO:0070528)|protein phosphorylation (GO:0006468)|regulation of tight junction assembly (GO:2000810)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		TCAGAGATCTGAAACTGGACA	0.517																																					Melanoma(135;863 1779 8064 14443 26348)	uc001xfn.2		NaN																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|large_intestine(1)|skin(1)	6						c.(1438-1440)CTG>CTC		protein kinase C, eta							125.0	103.0	111.0					14																	61995799		2203	4300	6503	SO:0001819	synonymous_variant	5583				intracellular signal transduction|platelet activation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity	g.chr14:61995799G>C	M55284	CCDS9752.1	14q23.1	2009-07-10			ENSG00000027075	ENSG00000027075	2.7.11.1		9403	protein-coding gene	gene with protein product		605437		PRKCL		1986216, 1545821	Standard	NM_006255		Approved	PKC-L, PKCL	uc001xfn.3	P24723	OTTHUMG00000152341	ENST00000332981.5:c.1440G>C	14.37:g.61995799G>C						PRKCH_uc010tsa.1_Silent_p.L319L|PRKCH_uc010tsb.1_Silent_p.L48L	p.L480L	NM_006255	NP_006246	P24723	KPCL_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)	11	1745	+			480			Protein kinase.		B4DJN5|Q16246|Q8NE03	Silent	SNP	ENST00000332981.5	37	c.1440G>C	CCDS9752.1																																																																																				0.517	PRKCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276974.2		NM_006255		36	2	0	0	0	1	0	36	2		
SYNE2	23224	broad.mit.edu	37	14	64467418	64467418	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr14:64467418C>T	ENST00000344113.4	+	28	3831	c.3619C>T	c.(3619-3621)Cag>Tag	p.Q1207*	SYNE2_ENST00000554584.1_Nonsense_Mutation_p.Q1207*|SYNE2_ENST00000358025.3_Nonsense_Mutation_p.Q1207*|SYNE2_ENST00000357395.3_5'UTR	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1207					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AAGAGAGCTTCAGATGACTCT	0.299																																						uc001xgm.2		NaN																	0				ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14						c.(3619-3621)CAG>TAG		spectrin repeat containing, nuclear envelope 2							67.0	66.0	66.0					14																	64467418		1819	4064	5883	SO:0001587	stop_gained	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64467418C>T	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.3619C>T	14.37:g.64467418C>T	ENSP00000341781:p.Gln1207*					SYNE2_uc001xgl.2_Nonsense_Mutation_p.Q1207*	p.Q1207*	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	28	3849	+			1207			Cytoplasmic (Potential).|Potential.		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Nonsense_Mutation	SNP	ENST00000344113.4	37	c.3619C>T	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	C	41	8.676996	0.98910	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	.	.	.	5.86	5.86	0.93980	.	0.220909	0.31976	N	0.006772	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	.	18.7433	0.91782	0.0:1.0:0.0:0.0	.	.	.	.	X	1207	.	ENSP00000261678:Q1207X	Q	+	1	0	SYNE2	63537171	0.996000	0.38824	0.622000	0.29159	0.362000	0.29581	4.970000	0.63742	2.937000	0.99478	0.650000	0.86243	CAG		0.299	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2		NM_182914		17	29	0	0	0	1	0	17	29		
CCDC176	80127	broad.mit.edu	37	14	74514682	74514682	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr14:74514682C>T	ENST00000394009.3	+	7	820	c.697C>T	c.(697-699)Cag>Tag	p.Q233*	AC005484.5_ENST00000492026.1_RNA|CCDC176_ENST00000489323.1_3'UTR|CCDC176_ENST00000553773.1_5'UTR	NM_025057.2	NP_079333.2	Q8ND07	BBOF1_HUMAN	coiled-coil domain containing 176	233					motile cilium assembly (GO:0044458)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)											TGATTATCTTCAGAAAGCTCT	0.363																																						uc010tup.1		NaN																	0					0						c.(697-699)CAG>TAG		hypothetical protein LOC80127							84.0	74.0	77.0					14																	74514682		1568	3582	5150	SO:0001587	stop_gained	80127							g.chr14:74514682C>T	BI457605	CCDS32119.2	14q24.3	2013-01-04	2012-09-25	2012-09-25	ENSG00000119636	ENSG00000119636			19855	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 45"""	C14orf45			Standard	NM_025057		Approved		uc010tup.2	Q8ND07	OTTHUMG00000152786	ENST00000394009.3:c.697C>T	14.37:g.74514682C>T	ENSP00000377577:p.Gln233*					C14orf45_uc001xpm.1_RNA	p.Q233*	NM_025057	NP_079333	Q8ND07	CN045_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00351)	7	820	+			233					Q0P604|Q9H5P8	Nonsense_Mutation	SNP	ENST00000394009.3	37	c.697C>T	CCDS32119.2	.	.	.	.	.	.	.	.	.	.	C	32	5.140479	0.94560	.	.	ENSG00000119636	ENST00000464394;ENST00000394009	.	.	.	5.78	5.78	0.91487	.	0.267175	0.35936	U	0.002899	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	-4.677	14.457	0.67423	0.1472:0.8528:0.0:0.0	.	.	.	.	X	93;233	.	ENSP00000377577:Q233X	Q	+	1	0	C14orf45	73584435	1.000000	0.71417	1.000000	0.80357	0.735000	0.41995	4.552000	0.60747	2.730000	0.93505	0.650000	0.86243	CAG		0.363	CCDC176-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327863.1		NM_025057		12	17	0	0	0	1	0	12	17		
AREL1	9870	broad.mit.edu	37	14	75130693	75130693	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr14:75130693G>A	ENST00000356357.4	-	19	2793	c.2278C>T	c.(2278-2280)Cag>Tag	p.Q760*	AREL1_ENST00000557401.1_5'UTR	NM_001039479.1	NP_001034568.1	O15033	AREL1_HUMAN	apoptosis resistant E3 ubiquitin protein ligase 1	760	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										GGTGGTAGCTGAGAGGAGCCT	0.562																																						uc001xqb.2		NaN																	0				ovary(2)|kidney(1)|central_nervous_system(1)|pancreas(1)	5						c.(2278-2280)CAG>TAG		hypothetical protein LOC9870							82.0	87.0	85.0					14																	75130693		2096	4227	6323	SO:0001587	stop_gained	9870				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane|intracellular	ubiquitin-protein ligase activity	g.chr14:75130693G>A	AB002315	CCDS41971.1	14q24.2	2013-04-15	2013-04-15	2013-04-15	ENSG00000119682	ENSG00000119682			20363	protein-coding gene	gene with protein product		615380	"""KIAA0317"""	KIAA0317		9205841, 23479728	Standard	XM_006720344		Approved		uc001xqb.3	O15033	OTTHUMG00000154499	ENST00000356357.4:c.2278C>T	14.37:g.75130693G>A	ENSP00000348714:p.Gln760*					KIAA0317_uc010tut.1_Nonsense_Mutation_p.Q599*	p.Q760*	NM_001039479	NP_001034568	O15033	K0317_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00404)	19	2783	-			760			HECT.		B4E2C7|Q7LDY1|Q8IYY9	Nonsense_Mutation	SNP	ENST00000356357.4	37	c.2278C>T	CCDS41971.1	.	.	.	.	.	.	.	.	.	.	G	45	11.877882	0.99613	.	.	ENSG00000119682	ENST00000356357;ENST00000543377;ENST00000556202	.	.	.	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	19.9084	0.97016	0.0:0.0:1.0:0.0	.	.	.	.	X	760;599;599	.	ENSP00000348714:Q760X	Q	-	1	0	KIAA0317	74200446	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.062000	0.89475	2.711000	0.92665	0.650000	0.86243	CAG		0.562	AREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335517.2		NM_014821		18	44	0	0	0	1	0	18	44		
ISM2	145501	broad.mit.edu	37	14	77942212	77942212	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr14:77942212G>C	ENST00000342219.4	-	7	1498	c.1442C>G	c.(1441-1443)tCt>tGt	p.S481C	ISM2_ENST00000493585.1_3'UTR|ISM2_ENST00000393684.3_Missense_Mutation_p.S393C|ISM2_ENST00000412904.1_Missense_Mutation_p.S400C|ISM2_ENST00000429906.1_Missense_Mutation_p.S400C	NM_199296.2	NP_954993.1	Q6H9L7	ISM2_HUMAN	isthmin 2	481	AMOP. {ECO:0000255|PROSITE- ProRule:PRU00347}.					extracellular region (GO:0005576)				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						GCTCTCCCCAGACAGCATGGA	0.687																																						uc001xtz.2		NaN																	0				skin(1)	1						c.(1441-1443)TCT>TGT		isthmin 2 homolog isoform 1							33.0	35.0	34.0					14																	77942212		2203	4299	6502	SO:0001583	missense	145501					extracellular region		g.chr14:77942212G>C	AK056709	CCDS9864.1, CCDS45143.1	14q24.3	2013-05-15	2013-05-15	2008-12-23	ENSG00000100593	ENSG00000100593			23176	protein-coding gene	gene with protein product	"""thrombospondin and AMOP containing isthmin-like 1"""	612684	"""thrombospondin, type I domain-containing 3"", ""thrombospondin, type I, domain containing 3"", ""isthmin 2 homolog (zebrafish)"""	THSD3		15194193	Standard	NM_199296		Approved	FLJ32147, TAIL1	uc001xtz.3	Q6H9L7	OTTHUMG00000158563	ENST00000342219.4:c.1442C>G	14.37:g.77942212G>C	ENSP00000341490:p.Ser481Cys					ISM2_uc001xua.2_3'UTR|ISM2_uc001xty.2_Missense_Mutation_p.S393C|ISM2_uc010tvl.1_Missense_Mutation_p.S400C	p.S481C	NM_199296	NP_954993	Q6H9L7	ISM2_HUMAN			7	1516	-			481			AMOP.		A8K6D5|O95432|Q495U5|Q68CN3|Q86TQ7|Q86TW3|Q86TW4|Q8N501|Q8NBL0	Missense_Mutation	SNP	ENST00000342219.4	37	c.1442C>G	CCDS9864.1	.	.	.	.	.	.	.	.	.	.	G	15.43	2.831089	0.50845	.	.	ENSG00000100593	ENST00000342219;ENST00000412904;ENST00000429906;ENST00000393684	T;T;T;T	0.29655	1.56;1.6;1.6;1.91	4.73	4.73	0.59995	AMOP (3);	0.000000	0.85682	D	0.000000	T	0.54498	0.1862	M	0.63428	1.95	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.59632	-0.7418	10	0.87932	D	0	-13.0035	17.699	0.88289	0.0:0.0:1.0:0.0	.	400;481	Q6H9L7-5;Q6H9L7	.;ISM2_HUMAN	C	481;400;400;393	ENSP00000341490:S481C;ENSP00000416773:S400C;ENSP00000395387:S400C;ENSP00000377289:S393C	ENSP00000341490:S481C	S	-	2	0	ISM2	77011965	1.000000	0.71417	0.169000	0.22859	0.034000	0.12701	7.552000	0.82192	2.184000	0.69523	0.462000	0.41574	TCT		0.687	ISM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351309.1		NM_182509		5	40	0	0	0	1	0	5	40		
DIO2	1734	broad.mit.edu	37	14	80677657	80677657	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr14:80677657G>A	ENST00000557010.1	-	3	544	c.159C>T	c.(157-159)cgC>cgT	p.R53R	DIO2_ENST00000557125.1_Intron|DIO2_ENST00000438257.4_Silent_p.R53R|DIO2_ENST00000422005.3_Silent_p.R53R|DIO2-AS1_ENST00000553979.1_RNA|DIO2_ENST00000555750.1_Silent_p.R53R	NM_000793.5|NM_001242502.1|NM_001242503.1	NP_000784.2|NP_001229431.1|NP_001229432.1	Q92813	IOD2_HUMAN	deiodinase, iodothyronine, type II	53					cellular nitrogen compound metabolic process (GO:0034641)|hormone biosynthetic process (GO:0042446)|selenocysteine incorporation (GO:0001514)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)|thyroid hormone metabolic process (GO:0042403)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	selenium binding (GO:0008430)|thyroxine 5'-deiodinase activity (GO:0004800)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.0281)		AGGTCAGCATGCGCCGCCACT	0.592																																						uc010tvq.1		NaN																	0				central_nervous_system(1)	1						c.(157-159)CGC>CGT		deiodinase, iodothyronine, type II isoform a							31.0	35.0	34.0					14																	80677657		2060	4190	6250	SO:0001819	synonymous_variant	1734				hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation	integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding	g.chr14:80677657G>A	AF007144	CCDS45146.1, CCDS55934.1	14q24.2-q24.3	2014-05-02			ENSG00000211448	ENSG00000211448	1.97.1.10		2884	protein-coding gene	gene with protein product	"""thyroxine deiodinase, type II"", ""deiodonase-2"", ""deiodinase-2"""	601413				8755651, 10343107	Standard	NM_001007023		Approved	TXDI2, SelY	uc021rxb.1	Q92813	OTTHUMG00000171443	ENST00000557010.1:c.159C>T	14.37:g.80677657G>A						uc001xuw.1_5'Flank|DIO2_uc010tvp.1_Silent_p.R53R|DIO2_uc001xut.2_RNA|DIO2_uc010asx.2_Silent_p.R53R|DIO2_uc010tvr.1_Silent_p.R53R|DIO2_uc010asy.2_Silent_p.R53R	p.R53R	NM_000793	NP_000784	Q92813	IOD2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0281)	2	561	-			53					B9EGK0|G3V315|Q6B0A3|Q9HCP8|Q9P1W4|Q9UDZ1	Silent	SNP	ENST00000557010.1	37	c.159C>T	CCDS45146.1	.	.	.	.	.	.	.	.	.	.	G	9.003	0.980567	0.18812	.	.	ENSG00000211448	ENST00000556811	.	.	.	5.7	4.81	0.61882	.	.	.	.	.	T	0.49184	0.1542	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47649	-0.9101	4	.	.	.	.	4.5493	0.12105	0.0829:0.1962:0.5857:0.1352	.	.	.	.	Y	1	.	.	H	-	1	0	DIO2	79747410	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.705000	0.47127	2.677000	0.91161	0.650000	0.86243	CAT		0.592	DIO2-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000413428.2				16	16	0	0	0	1	0	16	16		
FOXN3	1112	broad.mit.edu	37	14	89817116	89817116	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr14:89817116C>G	ENST00000345097.4	-	3	696	c.580G>C	c.(580-582)Gag>Cag	p.E194Q	RP11-356K23.1_ENST00000555407.1_RNA|FOXN3_ENST00000555658.1_5'UTR|FOXN3_ENST00000261302.5_Missense_Mutation_p.E194Q|RP11-356K23.1_ENST00000556942.1_RNA|FOXN3_ENST00000557258.1_Missense_Mutation_p.E194Q|FOXN3_ENST00000555353.1_Missense_Mutation_p.E194Q	NM_001085471.1	NP_001078940.1	O00409	FOXN3_HUMAN	forkhead box N3	194					mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TGTCTATACTCTGGGTCTATG	0.388																																						uc001xxo.3		NaN																	0				skin(2)|ovary(1)	3						c.(580-582)GAG>CAG		checkpoint suppressor 1 isoform 1							189.0	163.0	171.0					14																	89817116		2203	4300	6503	SO:0001583	missense	1112				DNA damage checkpoint|embryo development|G2 phase of mitotic cell cycle|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr14:89817116C>G		CCDS32138.1, CCDS41977.1	14q32.11	2012-04-17	2007-05-02	2007-05-02	ENSG00000053254	ENSG00000053254		"""Forkhead boxes"""	1928	protein-coding gene	gene with protein product		602628	"""chromosome 14 open reading frame 116"", ""checkpoint suppressor 1"""	C14orf116, CHES1		9154802	Standard	NM_005197		Approved		uc001xxo.4	O00409	OTTHUMG00000170898	ENST00000345097.4:c.580G>C	14.37:g.89817116C>G	ENSP00000343288:p.Glu194Gln					FOXN3_uc001xxn.3_Missense_Mutation_p.E194Q|FOXN3_uc010atk.2_Missense_Mutation_p.E194Q	p.E194Q	NM_001085471	NP_001078940	O00409	FOXN3_HUMAN			3	717	-			194			Fork-head.		Q96II7|Q9UIE7	Missense_Mutation	SNP	ENST00000345097.4	37	c.580G>C	CCDS41977.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	31|31	5.096486|5.096486	0.94197|0.94197	.|.	.|.	ENSG00000053254|ENSG00000053254	ENST00000345097;ENST00000261302;ENST00000557258;ENST00000555353;ENST00000553353;ENST00000555855|ENST00000553840;ENST00000556916	D;D;D;D;D|.	0.95853|.	-3.83;-3.83;-3.83;-3.83;-3.83|.	5.93|5.93	5.93|5.93	0.95920|0.95920	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);|.	0.100477|.	0.64402|.	D|.	0.000003|.	T|T	0.60038|0.60038	0.2238|0.2238	L|L	0.31120|0.31120	0.905|0.905	0.80722|0.80722	D|D	1|1	P;D|.	0.56035|.	0.563;0.974|.	B;P|.	0.56343|.	0.349;0.796|.	T|T	0.51553|0.51553	-0.8691|-0.8691	10|5	0.21014|.	T|.	0.42|.	.|.	20.328|20.328	0.98708|0.98708	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	194;194|.	O00409;O00409-2|.	FOXN3_HUMAN;.|.	Q|H	194;194;194;194;45;194|43;54	ENSP00000343288:E194Q;ENSP00000261302:E194Q;ENSP00000452005:E194Q;ENSP00000452227:E194Q;ENSP00000451135:E194Q|.	ENSP00000261302:E194Q|.	E|Q	-|-	1|3	0|2	FOXN3|FOXN3	88886869|88886869	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.706000|7.706000	0.84615|0.84615	2.802000|2.802000	0.96397|0.96397	0.561000|0.561000	0.74099|0.74099	GAG|CAG		0.388	FOXN3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410902.2		NM_005197		26	54	0	0	0	1	0	26	54		
RPS6KA5	9252	broad.mit.edu	37	14	91367073	91367073	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr14:91367073G>C	ENST00000261991.3	-	10	1300	c.1127C>G	c.(1126-1128)tCc>tGc	p.S376C	RPS6KA5_ENST00000418736.2_Missense_Mutation_p.S376C|RPS6KA5_ENST00000536315.2_Missense_Mutation_p.S297C	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5	376	AGC-kinase C-terminal.				axon guidance (GO:0007411)|epidermal growth factor receptor signaling pathway (GO:0007173)|histone H2A-S1 phosphorylation (GO:0043990)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-S28 phosphorylation (GO:0043988)|histone phosphorylation (GO:0016572)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cytokine production (GO:0001818)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		AGCAACAAAGGAATAGCCCTA	0.378																																						uc001xys.2		NaN																	0				ovary(1)	1						c.(1126-1128)TCC>TGC		ribosomal protein S6 kinase, polypeptide 5							63.0	58.0	60.0					14																	91367073		2203	4300	6503	SO:0001583	missense	9252				axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr14:91367073G>C	AF074393	CCDS9893.1, CCDS45149.1	14q31-q32.1	2011-04-05	2002-08-29			ENSG00000100784			10434	protein-coding gene	gene with protein product		603607	"""ribosomal protein S6 kinase, 90kD, polypeptide 5"""			9687510, 10702687	Standard	NM_004755		Approved	MSK1, RLPK	uc001xys.2	O75582		ENST00000261991.3:c.1127C>G	14.37:g.91367073G>C	ENSP00000261991:p.Ser376Cys					RPS6KA5_uc010twi.1_Missense_Mutation_p.S297C|RPS6KA5_uc001xyt.2_Missense_Mutation_p.S376C|RPS6KA5_uc010att.1_RNA	p.S376C	NM_004755	NP_004746	O75582	KS6A5_HUMAN		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)	10	1342	-		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)	376	S->A: Loss of kinase activity, and decreases the phosphorylation of S-360 and T-581.		AGC-kinase C-terminal.		O95316|Q96AF7	Missense_Mutation	SNP	ENST00000261991.3	37	c.1127C>G	CCDS9893.1	.	.	.	.	.	.	.	.	.	.	G	19.11	3.763648	0.69878	.	.	ENSG00000100784	ENST00000261991;ENST00000536315;ENST00000418736	T;T;T	0.63913	-0.07;-0.07;-0.07	4.88	4.88	0.63580	Protein kinase, C-terminal (1);AGC-kinase, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.86435	0.5932	H	0.96633	3.855	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.983	D	0.91356	0.5108	10	0.87932	D	0	.	18.3988	0.90509	0.0:0.0:1.0:0.0	.	376;376	O75582-2;O75582	.;KS6A5_HUMAN	C	376;297;376	ENSP00000261991:S376C;ENSP00000442803:S297C;ENSP00000402787:S376C	ENSP00000261991:S376C	S	-	2	0	RPS6KA5	90436826	1.000000	0.71417	1.000000	0.80357	0.467000	0.32768	7.550000	0.82173	2.426000	0.82243	0.563000	0.77884	TCC		0.378	RPS6KA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411442.2		NM_004755		11	17	0	0	0	1	0	11	17		
TC2N	123036	broad.mit.edu	37	14	92253884	92253884	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr14:92253884G>T	ENST00000435962.2	-	10	1458	c.1135C>A	c.(1135-1137)Cca>Aca	p.P379T	TC2N_ENST00000556018.1_Missense_Mutation_p.P315T|TC2N_ENST00000340892.5_Missense_Mutation_p.P379T|TC2N_ENST00000360594.5_Missense_Mutation_p.P379T	NM_001128596.1	NP_001122068	Q8N9U0	TAC2N_HUMAN	tandem C2 domains, nuclear	379	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		GATGAGCTTGGAAGGTACCGT	0.348																																						uc001xzu.3		NaN																	0				upper_aerodigestive_tract(1)	1						c.(1135-1137)CCA>ACA		tandem C2 domains, nuclear							123.0	111.0	115.0					14																	92253884		2203	4300	6503	SO:0001583	missense	123036					nucleus		g.chr14:92253884G>T	AA243837	CCDS9897.1, CCDS73679.1	14q32.12	2007-10-17	2007-08-17	2007-08-17		ENSG00000165929			19859	protein-coding gene	gene with protein product	"""C2 calcium-dependent domain containing 1"""		"""chromosome 14 open reading frame 47"", ""membrane targeting (tandem) C2 domain containing 1"""	C14orf47, MTAC2D1		11526914	Standard	NM_001128596		Approved	FLJ36557, Tac2-N, C2CD1	uc001xzt.4	Q8N9U0		ENST00000435962.2:c.1135C>A	14.37:g.92253884G>T	ENSP00000387882:p.Pro379Thr					TC2N_uc001xzt.3_Missense_Mutation_p.P379T|TC2N_uc010auc.2_Missense_Mutation_p.P315T|TC2N_uc001xzv.3_Missense_Mutation_p.P379T	p.P379T	NM_001128595	NP_001122067	Q8N9U0	TAC2N_HUMAN		COAD - Colon adenocarcinoma(157;0.218)	10	1326	-			379			C2.			Missense_Mutation	SNP	ENST00000435962.2	37	c.1135C>A	CCDS9897.1	.	.	.	.	.	.	.	.	.	.	G	15.73	2.919001	0.52546	.	.	ENSG00000165929	ENST00000435962;ENST00000340892;ENST00000360594;ENST00000556018;ENST00000556590	T;T;T;T;T	0.71341	-0.56;-0.56;-0.56;-0.56;-0.56	5.48	5.48	0.80851	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.78521	0.4296	L	0.29908	0.895	0.39569	D	0.969245	D;D	0.89917	1.0;1.0	D;D	0.97110	0.996;1.0	T	0.80984	-0.1138	10	0.72032	D	0.01	-17.8027	19.7014	0.96054	0.0:0.0:1.0:0.0	.	315;379	Q8N9U0-2;Q8N9U0	.;TAC2N_HUMAN	T	379;379;379;315;131	ENSP00000387882:P379T;ENSP00000343199:P379T;ENSP00000353802:P379T;ENSP00000451317:P315T;ENSP00000450922:P131T	ENSP00000343199:P379T	P	-	1	0	TC2N	91323637	1.000000	0.71417	1.000000	0.80357	0.086000	0.17979	8.093000	0.89531	2.733000	0.93635	0.561000	0.74099	CCA		0.348	TC2N-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411778.1		NM_152332		9	31	1	0	3.09899e-07	1	3.2626e-07	9	31		
TC2N	123036	broad.mit.edu	37	14	92253914	92253914	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr14:92253914G>C	ENST00000435962.2	-	10	1428	c.1105C>G	c.(1105-1107)Cag>Gag	p.Q369E	TC2N_ENST00000556018.1_Missense_Mutation_p.Q305E|TC2N_ENST00000340892.5_Missense_Mutation_p.Q369E|TC2N_ENST00000360594.5_Missense_Mutation_p.Q369E	NM_001128596.1	NP_001122068	Q8N9U0	TAC2N_HUMAN	tandem C2 domains, nuclear	369	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		ATTTGTAACTGAATTCTGCTA	0.363																																						uc001xzu.3		NaN																	0				upper_aerodigestive_tract(1)	1						c.(1105-1107)CAG>GAG		tandem C2 domains, nuclear							125.0	114.0	118.0					14																	92253914		2203	4300	6503	SO:0001583	missense	123036					nucleus		g.chr14:92253914G>C	AA243837	CCDS9897.1, CCDS73679.1	14q32.12	2007-10-17	2007-08-17	2007-08-17		ENSG00000165929			19859	protein-coding gene	gene with protein product	"""C2 calcium-dependent domain containing 1"""		"""chromosome 14 open reading frame 47"", ""membrane targeting (tandem) C2 domain containing 1"""	C14orf47, MTAC2D1		11526914	Standard	NM_001128596		Approved	FLJ36557, Tac2-N, C2CD1	uc001xzt.4	Q8N9U0		ENST00000435962.2:c.1105C>G	14.37:g.92253914G>C	ENSP00000387882:p.Gln369Glu					TC2N_uc001xzt.3_Missense_Mutation_p.Q369E|TC2N_uc010auc.2_Missense_Mutation_p.Q305E|TC2N_uc001xzv.3_Missense_Mutation_p.Q369E	p.Q369E	NM_001128595	NP_001122067	Q8N9U0	TAC2N_HUMAN		COAD - Colon adenocarcinoma(157;0.218)	10	1296	-			369			C2.			Missense_Mutation	SNP	ENST00000435962.2	37	c.1105C>G	CCDS9897.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.391822	0.83011	.	.	ENSG00000165929	ENST00000435962;ENST00000340892;ENST00000360594;ENST00000556018;ENST00000556590	T;T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26;-0.26	5.73	5.73	0.89815	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.75525	0.3861	L	0.29908	0.895	0.37619	D	0.921243	P;D	0.76494	0.954;0.999	P;D	0.81914	0.876;0.995	T	0.78750	-0.2082	10	0.72032	D	0.01	-9.8195	20.2602	0.98440	0.0:0.0:1.0:0.0	.	305;369	Q8N9U0-2;Q8N9U0	.;TAC2N_HUMAN	E	369;369;369;305;121	ENSP00000387882:Q369E;ENSP00000343199:Q369E;ENSP00000353802:Q369E;ENSP00000451317:Q305E;ENSP00000450922:Q121E	ENSP00000343199:Q369E	Q	-	1	0	TC2N	91323667	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	8.093000	0.89531	2.861000	0.98227	0.655000	0.94253	CAG		0.363	TC2N-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411778.1		NM_152332		12	37	0	0	0	1	0	12	37		
SERPINA3	12	broad.mit.edu	37	14	95080891	95080891	+	Missense_Mutation	SNP	A	A	C	rs554823824		TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr14:95080891A>C	ENST00000467132.1	+	2	1261	c.113A>C	c.(112-114)aAc>aCc	p.N38T	RP11-986E7.7_ENST00000553947.1_3'UTR|SERPINA3_ENST00000393078.3_Missense_Mutation_p.N38T|SERPINA3_ENST00000393080.4_Missense_Mutation_p.N38T			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	38					acute-phase response (GO:0006953)|inflammatory response (GO:0006954)|maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of endopeptidase activity (GO:0010951)|regulation of lipid metabolic process (GO:0019216)|regulation of proteolysis (GO:0030162)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)	DNA binding (GO:0003677)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		ACCCAGGAGAACCAAGACCGA	0.587																																						uc001ydp.2		NaN																	0				ovary(2)|central_nervous_system(2)|large_intestine(1)|skin(1)	6						c.(112-114)AAC>ACC		serpin peptidase inhibitor, clade A, member 3							119.0	117.0	117.0					14																	95080891		2203	4300	6503	SO:0001583	missense	12				acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity	g.chr14:95080891A>C	K01500	CCDS32150.1	14q32.1	2014-06-03	2005-08-18		ENSG00000196136	ENSG00000196136		"""Serine (or cysteine) peptidase inhibitors"""	16	protein-coding gene	gene with protein product		107280	"""alpha-1-antichymotrypsin"", ""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3"""	AACT		3260956, 24172014	Standard	NM_001085		Approved	ACT, alpha-1-antichymotrypsin	uc001ydp.3	P01011	OTTHUMG00000029851	ENST00000467132.1:c.113A>C	14.37:g.95080891A>C	ENSP00000450540:p.Asn38Thr					SERPINA3_uc001ydo.3_Missense_Mutation_p.N63T|SERPINA3_uc010avf.1_RNA|SERPINA3_uc001ydr.2_RNA|SERPINA3_uc001ydq.2_Missense_Mutation_p.N38T|SERPINA3_uc001yds.2_Missense_Mutation_p.N38T|SERPINA3_uc010avg.2_Missense_Mutation_p.N38T	p.N38T	NM_001085	NP_001076	P01011	AACT_HUMAN		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)	2	192	+		all_cancers(154;0.0525)|all_epithelial(191;0.179)	38					B3KVQ7|Q13703|Q2TU87|Q2TU88|Q59GP9|Q6LBY8|Q6LDT7|Q6NSC9|Q8N177|Q96DW8|Q9UC47|Q9UNU9	Missense_Mutation	SNP	ENST00000467132.1	37	c.113A>C	CCDS32150.1	.	.	.	.	.	.	.	.	.	.	A	10.24	1.296249	0.23650	.	.	ENSG00000196136	ENST00000553947;ENST00000393078;ENST00000393080;ENST00000555820;ENST00000467132;ENST00000380354	D;D;D;D	0.83755	-1.76;-1.75;-1.75;-1.75	4.36	3.18	0.36537	Serpin domain (1);	3.060610	0.01225	N	0.008213	T	0.70570	0.3239	N	0.08118	0	0.09310	N	1	B;B	0.13594	0.008;0.003	B;B	0.16289	0.004;0.015	T	0.59994	-0.7349	10	0.59425	D	0.04	.	6.1605	0.20362	0.6754:0.1654:0.0:0.1591	.	38;63	P01011;G3V5I3	AACT_HUMAN;.	T	63;38;38;38;38;38	ENSP00000452367:N63T;ENSP00000376793:N38T;ENSP00000376795:N38T;ENSP00000450540:N38T	ENSP00000369712:N38T	N	+	2	0	SERPINA3	94150644	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.323000	0.19593	0.759000	0.33084	0.459000	0.35465	AAC		0.587	SERPINA3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268080.3		NM_001085		28	71	0	0	0	1	0	28	71		
DICER1	23405	broad.mit.edu	37	14	95570291	95570291	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr14:95570291G>C	ENST00000526495.1	-	23	3733	c.3442C>G	c.(3442-3444)Caa>Gaa	p.Q1148E	DICER1_ENST00000527414.1_Missense_Mutation_p.Q1148E|DICER1_ENST00000393063.1_Missense_Mutation_p.Q1148E|DICER1_ENST00000541352.1_Missense_Mutation_p.Q1148E|DICER1_ENST00000556045.1_Missense_Mutation_p.Q46E|DICER1_ENST00000343455.3_Missense_Mutation_p.Q1148E			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1148					angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		ACAGACATTTGGTCATGATTT	0.418			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																													uc001ydw.2		NaN	yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	Mis F|N	"""dicer 1, ribonuclease type III """			"""E, M, O"""		pleuropulmonary blastoma			0				skin(2)|ovary(1)|pancreas(1)|lung(1)	5						c.(3442-3444)CAA>GAA		dicer1							54.0	57.0	56.0					14																	95570291		2203	4300	6503	SO:0001583	missense	23405	DICER_1_syndrome_|Familial_Multinodular_Goiter_	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr14:95570291G>C	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"""dicer 1, double-stranded RNA-specific endoribonuclease"""	606241	"""Dicer1, Dcr-1 homolog (Drosophila)"", ""multinodular goitre 1"""	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.3442C>G	14.37:g.95570291G>C	ENSP00000437256:p.Gln1148Glu					DICER1_uc010avh.1_Missense_Mutation_p.Q46E|DICER1_uc001ydv.2_Missense_Mutation_p.Q1138E|DICER1_uc001ydx.2_Missense_Mutation_p.Q1148E|DICER1_uc001ydy.1_5'UTR	p.Q1148E	NM_030621	NP_085124	Q9UPY3	DICER_HUMAN		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)	22	3624	-		all_cancers(154;0.0621)|all_epithelial(191;0.223)	1148					A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Missense_Mutation	SNP	ENST00000526495.1	37	c.3442C>G	CCDS9931.1	.	.	.	.	.	.	.	.	.	.	G	16.18	3.049002	0.55110	.	.	ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000556045;ENST00000541352	T;T;T;T;D;T	0.86769	0.48;0.48;0.48;0.48;-2.17;0.79	5.4	5.4	0.78164	.	0.321554	0.34362	N	0.004034	T	0.75744	0.3891	L	0.29908	0.895	0.51482	D	0.999922	B;P	0.42827	0.104;0.791	B;B	0.29077	0.036;0.098	T	0.77451	-0.2583	10	0.05833	T	0.94	-16.6675	19.1893	0.93658	0.0:0.0:1.0:0.0	.	46;1148	B3KRG4;Q9UPY3	.;DICER_HUMAN	E	1148;1148;1148;1148;46;1148	ENSP00000343745:Q1148E;ENSP00000437256:Q1148E;ENSP00000376783:Q1148E;ENSP00000435681:Q1148E;ENSP00000451041:Q46E;ENSP00000444719:Q1148E	ENSP00000343745:Q1148E	Q	-	1	0	DICER1	94640044	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.058000	0.71126	2.527000	0.85204	0.561000	0.74099	CAA		0.418	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1				36	18	0	0	0	1	0	36	18		
CCNK	8812	broad.mit.edu	37	14	99959910	99959910	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr14:99959910C>T	ENST00000389879.5	+	3	380	c.257C>T	c.(256-258)tCc>tTc	p.S86F	CCNK_ENST00000555049.1_Missense_Mutation_p.S86F|CCNK_ENST00000557165.1_3'UTR	NM_001099402.1	NP_001092872.1	O75909	CCNK_HUMAN	cyclin K	86					cellular response to DNA damage stimulus (GO:0006974)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of cell cycle arrest (GO:0071157)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cyclin K-CDK12 complex (GO:0002944)|cyclin K-CDK13 complex (GO:0002945)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase binding (GO:0019901)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(1)|endometrium(2)|lung(3)	6		all_cancers(154;0.224)|all_epithelial(191;0.0643)|Melanoma(154;0.0866)				ATGTTTCATTCCTTCAAGCAA	0.328																																						uc001ygi.3		NaN																	0					0						c.(256-258)TCC>TTC		cyclin K isoform 1							115.0	113.0	114.0					14																	99959910		1822	4073	5895	SO:0001583	missense	8812				cell division|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein kinase binding	g.chr14:99959910C>T	AF060515	CCDS45160.1	14q32.2	2014-07-03			ENSG00000090061	ENSG00000090061			1596	protein-coding gene	gene with protein product		603544				9632813, 10574912	Standard	NM_001099402		Approved	CPR4	uc001ygi.4	O75909	OTTHUMG00000171495	ENST00000389879.5:c.257C>T	14.37:g.99959910C>T	ENSP00000374529:p.Ser86Phe					CCNK_uc001ygg.3_Missense_Mutation_p.S86F	p.S86F	NM_001099402	NP_001092872	O75909	CCNK_HUMAN			3	387	+		all_cancers(154;0.224)|all_epithelial(191;0.0643)|Melanoma(154;0.0866)	86					Q59FT6|Q86U16|Q96B63|Q9NNY9	Missense_Mutation	SNP	ENST00000389879.5	37	c.257C>T	CCDS45160.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.911352	0.92178	.	.	ENSG00000090061	ENST00000437596;ENST00000216279;ENST00000380246;ENST00000389879;ENST00000557441;ENST00000555049;ENST00000555842	T;T;T;T	0.12255	2.7;2.7;2.7;2.7	5.69	5.69	0.88448	Cyclin, N-terminal (1);Cyclin-like (3);	0.000000	0.85682	D	0.000000	T	0.56731	0.2005	H	0.97732	4.065	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.72272	-0.4342	10	0.87932	D	0	-31.4832	20.181	0.98201	0.0:1.0:0.0:0.0	.	86;86	O75909;O75909-2	CCNK_HUMAN;.	F	86	ENSP00000374529:S86F;ENSP00000450792:S86F;ENSP00000452307:S86F;ENSP00000450440:S86F	ENSP00000216279:S86F	S	+	2	0	CCNK	99029663	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.666000	0.83877	2.840000	0.97914	0.655000	0.94253	TCC		0.328	CCNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413721.1				13	14	0	0	0	1	0	13	14		
ASPG	374569	broad.mit.edu	37	14	104552129	104552129	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr14:104552129G>T	ENST00000551177.1	+	1	114	c.22G>T	c.(22-24)Gag>Tag	p.E8*	ASPG_ENST00000546892.2_Nonsense_Mutation_p.E8*|ASPG_ENST00000455920.2_Nonsense_Mutation_p.E8*	NM_001080464.2	NP_001073933.2	Q86U10	LPP60_HUMAN	asparaginase	8					asparagine metabolic process (GO:0006528)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)		1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)|asparaginase activity (GO:0004067)|lysophospholipase activity (GO:0004622)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	11						GGTGGGGCCCGAGCGGAGGCT	0.746																																						uc001yoq.1		NaN																	0					0						c.(22-24)GAG>TAG		60 kDa lysophospholipase							12.0	13.0	13.0					14																	104552129		1621	3707	5328	SO:0001587	stop_gained	374569				lipid catabolic process		1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity	g.chr14:104552129G>T		CCDS45170.1, CCDS45170.2	14q32.33	2014-03-14	2014-03-14	2008-11-06	ENSG00000166183	ENSG00000166183	3.1.1.5, 3.5.1.1	"""Ankyrin repeat domain containing"""	20123	protein-coding gene	gene with protein product	"""60-kDa-lysophospholipase"""		"""chromosome 14 open reading frame 76"", ""asparaginase homolog (S. cerevisiae)"""	C14orf76			Standard	NM_001080464		Approved		uc001yoq.2	Q86U10		ENST00000551177.1:c.22G>T	14.37:g.104552129G>T	ENSP00000450040:p.Glu8*					ASPG_uc001yoo.1_5'UTR|ASPG_uc001yop.1_Nonsense_Mutation_p.E8*|ASPG_uc001yor.1_Nonsense_Mutation_p.E8*	p.E8*	NM_001080464	NP_001073933	Q86U10	LPP60_HUMAN			1	82	+			8					B9EGQ2|Q8IV80	Nonsense_Mutation	SNP	ENST00000551177.1	37	c.22G>T	CCDS45170.2	.	.	.	.	.	.	.	.	.	.	G	28.2	4.902417	0.92035	.	.	ENSG00000166183	ENST00000551177;ENST00000546892;ENST00000455920	.	.	.	3.74	2.8	0.32819	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	8.6811	0.34209	0.0:0.2351:0.7649:0.0	.	.	.	.	X	8	.	ENSP00000389003:E8X	E	+	1	0	ASPG	103621882	0.987000	0.35691	0.948000	0.38648	0.226000	0.24999	2.012000	0.40932	0.723000	0.32274	0.561000	0.74099	GAG		0.746	ASPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407005.1		NM_001080464		9	5	1	0	1.12685e-05	1	1.16464e-05	9	5		
AHNAK2	113146	broad.mit.edu	37	14	105410361	105410361	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr14:105410361C>G	ENST00000333244.5	-	7	11546	c.11427G>C	c.(11425-11427)aaG>aaC	p.K3809N	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3809						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ATGACGGCATCTTGAACTTGG	0.572																																						uc010axc.1		NaN																	0				ovary(1)	1						c.(11425-11427)AAG>AAC		AHNAK nucleoprotein 2							257.0	255.0	256.0					14																	105410361		1994	4159	6153	SO:0001583	missense	113146					nucleus		g.chr14:105410361C>G	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.11427G>C	14.37:g.105410361C>G	ENSP00000353114:p.Lys3809Asn					AHNAK2_uc001ypx.2_Missense_Mutation_p.K3709N	p.K3809N	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	11547	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	3809					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.11427G>C	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	c	12.76	2.035436	0.35893	.	.	ENSG00000185567	ENST00000333244	T	0.01379	4.96	4.33	1.21	0.21127	.	0.192422	0.23918	U	0.043275	T	0.07413	0.0187	H	0.94462	3.54	0.09310	N	1	D	0.67145	0.996	P	0.62184	0.899	T	0.17992	-1.0351	10	0.49607	T	0.09	.	2.4683	0.04558	0.1301:0.4451:0.2503:0.1744	.	3809	Q8IVF2	AHNK2_HUMAN	N	3809	ENSP00000353114:K3809N	ENSP00000353114:K3809N	K	-	3	2	AHNAK2	104481406	0.000000	0.05858	0.396000	0.26296	0.597000	0.36814	-0.765000	0.04730	0.282000	0.22254	0.485000	0.47835	AAG		0.572	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1		NM_138420		94	204	0	0	0	1	0	94	204		
CRIP1	1396	broad.mit.edu	37	14	105954549	105954549	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr14:105954549G>A	ENST00000330233.7	+	2	1030	c.87G>A	c.(85-87)ctG>ctA	p.L29L	CRIP1_ENST00000392531.3_Silent_p.L29L|CRIP1_ENST00000551180.1_5'Flank|CRIP1_ENST00000409393.2_Silent_p.L29L|C14orf80_ENST00000392527.1_5'Flank|C14orf80_ENST00000334656.7_5'Flank|C14orf80_ENST00000329886.7_5'Flank			P50238	CRIP1_HUMAN	cysteine-rich protein 1 (intestinal)	29	LIM zinc-binding. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell proliferation (GO:0008283)|cellular response to antibiotic (GO:0071236)|cellular response to UV-B (GO:0071493)|heart development (GO:0007507)|immune response (GO:0006955)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|prostate gland stromal morphogenesis (GO:0060741)|regulation of gene expression (GO:0010468)|response to organic substance (GO:0010033)|response to zinc ion (GO:0010043)	cytoplasm (GO:0005737)	AT DNA binding (GO:0003680)|DNA binding, bending (GO:0008301)|peptide binding (GO:0042277)|zinc ion binding (GO:0008270)						Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.235)		GGCCCTGCCTGAAGTGCGAGA	0.682																																						uc001yri.3		NaN																	0					0						c.(85-87)CTG>CTA		cysteine-rich protein 1 (intestinal)							55.0	60.0	58.0					14																	105954549		2203	4300	6503	SO:0001819	synonymous_variant	1396				cell proliferation	cytoplasm	zinc ion binding	g.chr14:105954549G>A		CCDS10004.1	14q32.33	2004-06-18			ENSG00000213145	ENSG00000213145			2360	protein-coding gene	gene with protein product		123875				9480758	Standard	NM_001311		Approved	CRIP	uc001yri.4	P50238	OTTHUMG00000029908	ENST00000330233.7:c.87G>A	14.37:g.105954549G>A						C14orf80_uc001yrj.2_5'Flank|C14orf80_uc001yrk.2_5'Flank	p.L29L	NM_001311	NP_001302	P50238	CRIP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.235)	3	201	+		Melanoma(154;0.226)	29			LIM zinc-binding.		H3BPI2|Q13628|Q53XY7|Q96J34	Silent	SNP	ENST00000330233.7	37	c.87G>A	CCDS10004.1																																																																																				0.682	CRIP1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335466.2		NM_001311		18	33	0	0	0	1	0	18	33		
CYFIP1	23191	broad.mit.edu	37	15	22993125	22993125	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr15:22993125C>T	ENST00000313077.7	+	26	3137	c.3012C>T	c.(3010-3012)atC>atT	p.I1004I	CYFIP1_ENST00000560848.1_Silent_p.I1004I|CYFIP1_ENST00000435939.2_Silent_p.I573I	NM_014608.2	NP_055423.1			cytoplasmic FMR1 interacting protein 1											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		GGAACGCCATCCTCTTCTGCC	0.667																																						uc001yus.2		NaN																	0				ovary(4)|pancreas(3)|liver(1)|skin(1)	9						c.(3010-3012)ATC>ATT		cytoplasmic FMR1 interacting protein 1 isoform							92.0	84.0	87.0					15																	22993125		2203	4300	6503	SO:0001819	synonymous_variant	23191				axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding	g.chr15:22993125C>T	D38549	CCDS73695.1, CCDS73696.1	15q11	2008-07-18			ENSG00000068793	ENSG00000273749			13759	protein-coding gene	gene with protein product	"""selective hybridizing clone"", ""cytoplasmic FMRP interacting protein 1"""	606322				11438699	Standard	XM_005272543		Approved	KIAA0068, P140SRA-1, SHYC	uc001yus.3	Q7L576	OTTHUMG00000129100	ENST00000313077.7:c.3012C>T	15.37:g.22993125C>T						CYFIP1_uc001yut.2_Silent_p.I1004I|CYFIP1_uc010aya.1_Silent_p.I1032I|CYFIP1_uc001yuu.2_Silent_p.I573I|CYFIP1_uc001yuv.2_Silent_p.I198I	p.I1004I	NM_014608	NP_055423	Q7L576	CYFP1_HUMAN		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)	26	3116	+		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)	1004						Silent	SNP	ENST00000313077.7	37	c.3012C>T	CCDS10009.1																																																																																				0.667	CYFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251136.2		NM_014608		41	23	0	0	0	1	0	41	23		
HERC2	8924	broad.mit.edu	37	15	28377404	28377404	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr15:28377404C>G	ENST00000261609.7	-	81	12520	c.12412G>C	c.(12412-12414)Gag>Cag	p.E4138Q		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TGCAGCGCCTCCACCTTCAGA	0.567																																						uc001zbj.2		NaN																	0				ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13						c.(12412-12414)GAG>CAG		hect domain and RLD 2							37.0	33.0	34.0					15																	28377404		2203	4300	6503	SO:0001583	missense	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28377404C>G	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.12412G>C	15.37:g.28377404C>G	ENSP00000261609:p.Glu4138Gln						p.E4138Q	NM_004667	NP_004658	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	81	12518	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	4138			RCC1 16.			Missense_Mutation	SNP	ENST00000261609.7	37	c.12412G>C	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	C	31	5.084149	0.94100	.	.	ENSG00000128731	ENST00000261609	T	0.81078	-1.45	5.29	5.29	0.74685	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.053705	0.64402	D	0.000001	T	0.79936	0.4532	L	0.28649	0.875	0.80722	D	1	P	0.48694	0.914	P	0.49953	0.627	T	0.81282	-0.1003	10	0.51188	T	0.08	.	18.9395	0.92600	0.0:1.0:0.0:0.0	.	4138	O95714	HERC2_HUMAN	Q	4138	ENSP00000261609:E4138Q	ENSP00000261609:E4138Q	E	-	1	0	HERC2	26050999	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.811000	0.86092	2.469000	0.83416	0.555000	0.69702	GAG		0.567	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2		NM_004667		3	14	0	0	0	1	0	3	14		
TRPM1	4308	broad.mit.edu	37	15	31352839	31352839	+	Missense_Mutation	SNP	C	C	G	rs368644281		TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr15:31352839C>G	ENST00000256552.6	-	11	1318	c.1171G>C	c.(1171-1173)Gta>Cta	p.V391L	TRPM1_ENST00000397795.2_Missense_Mutation_p.V369L|TRPM1_ENST00000542188.1_Missense_Mutation_p.V408L	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GGAGCAGATACGTTTGTTCCT	0.562																																						uc001zfm.2		NaN																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(1105-1107)GTA>CTA		transient receptor potential cation channel,							61.0	65.0	64.0					15																	31352839		2005	4187	6192	SO:0001583	missense	4308				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	g.chr15:31352839C>G	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.1171G>C	15.37:g.31352839C>G	ENSP00000256552:p.Val391Leu					TRPM1_uc010azy.2_Missense_Mutation_p.V276L|TRPM1_uc001zfl.2_RNA	p.V369L	NM_002420	NP_002411	Q7Z4N2	TRPM1_HUMAN		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)	10	1233	-		all_lung(180;1.92e-11)	369	V -> L (in Ref. 2; BAC80200).		Extracellular (Potential).			Missense_Mutation	SNP	ENST00000256552.6	37	c.1105G>C	CCDS58346.1	.	.	.	.	.	.	.	.	.	.	C	3.165	-0.171202	0.06421	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	T;T;T	0.47528	0.84;0.87;0.9	5.38	5.38	0.77491	.	0.270585	0.41823	D	0.000812	T	0.20820	0.0501	N	0.00368	-1.59	0.22479	N	0.999067	B;B	0.12013	0.001;0.005	B;B	0.16722	0.008;0.016	T	0.39099	-0.9630	10	0.72032	D	0.01	-6.5197	19.1166	0.93343	0.0:1.0:0.0:0.0	.	363;369	Q7Z4N2-3;Q7Z4N2	.;TRPM1_HUMAN	L	369;408;391;369	ENSP00000380897:V369L;ENSP00000437849:V408L;ENSP00000256552:V391L	ENSP00000256552:V391L	V	-	1	0	TRPM1	29140131	1.000000	0.71417	0.035000	0.18076	0.335000	0.28730	5.920000	0.70017	2.530000	0.85305	0.655000	0.94253	GTA		0.562	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2		NM_002420		6	11	0	0	0	1	0	6	11		
RYR3	6263	broad.mit.edu	37	15	33961642	33961642	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr15:33961642C>T	ENST00000389232.4	+	37	5777	c.5707C>T	c.(5707-5709)Ctt>Ttt	p.L1903F	RYR3_ENST00000415757.3_Missense_Mutation_p.L1903F	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1903	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CCATGAGGACCTTCTCCTTCA	0.458																																						uc001zhi.2		NaN																	0				ovary(5)|central_nervous_system(4)|lung(1)	10						c.(5707-5709)CTT>TTT		ryanodine receptor 3							90.0	87.0	88.0					15																	33961642		1872	4106	5978	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33961642C>T		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.5707C>T	15.37:g.33961642C>T	ENSP00000373884:p.Leu1903Phe					RYR3_uc010bar.2_Missense_Mutation_p.L1903F	p.L1903F	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	37	5777	+		all_lung(180;7.18e-09)	1903			4 X approximate repeats.|Cytoplasmic (By similarity).		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.5707C>T	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.259353	0.80246	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	T;T	0.75260	-0.92;-0.68	5.5	5.5	0.81552	.	0.000000	0.64402	D	0.000001	D	0.83644	0.5299	M	0.68317	2.08	0.54753	D	0.999982	P;D	0.58268	0.48;0.982	P;P	0.58520	0.535;0.84	D	0.83977	0.0330	10	0.59425	D	0.04	.	19.5916	0.95514	0.0:1.0:0.0:0.0	.	1903;1903	Q15413-2;Q15413	.;RYR3_HUMAN	F	1903	ENSP00000373884:L1903F;ENSP00000399610:L1903F	ENSP00000354735:L1903F	L	+	1	0	RYR3	31748934	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.877000	0.69675	2.861000	0.98227	0.655000	0.94253	CTT		0.458	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1				20	13	0	0	0	1	0	20	13		
RYR3	6263	broad.mit.edu	37	15	33988667	33988667	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr15:33988667G>A	ENST00000389232.4	+	39	6179	c.6109G>A	c.(6109-6111)Gag>Aag	p.E2037K	RYR3_ENST00000415757.3_Missense_Mutation_p.E2037K	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2037	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.E2037K(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CAAGGAAGAGGAGTTGCTCAT	0.522																																						uc001zhi.2		NaN																	1	Substitution - Missense(1)		breast(1)	ovary(5)|central_nervous_system(4)|lung(1)	10						c.(6109-6111)GAG>AAG		ryanodine receptor 3							96.0	101.0	99.0					15																	33988667		2090	4226	6316	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33988667G>A		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.6109G>A	15.37:g.33988667G>A	ENSP00000373884:p.Glu2037Lys					RYR3_uc010bar.2_Missense_Mutation_p.E2037K	p.E2037K	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	39	6179	+		all_lung(180;7.18e-09)	2037			4 X approximate repeats.|Cytoplasmic (By similarity).		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.6109G>A	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	36	5.639088	0.96693	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.96396	-4.0;-4.0	4.84	4.84	0.62591	Intracellular calcium-release channel (1);	0.068085	0.64402	D	0.000013	D	0.97939	0.9322	M	0.75777	2.31	0.51482	D	0.99992	D;D	0.89917	0.999;1.0	D;D	0.91635	0.991;0.999	D	0.98664	1.0685	10	0.87932	D	0	.	18.4937	0.90856	0.0:0.0:1.0:0.0	.	2037;2037	Q15413-2;Q15413	.;RYR3_HUMAN	K	2037	ENSP00000373884:E2037K;ENSP00000399610:E2037K	ENSP00000354735:E2037K	E	+	1	0	RYR3	31775959	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.601000	0.98297	2.670000	0.90874	0.650000	0.86243	GAG		0.522	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1				20	15	0	0	0	1	0	20	15		
RYR3	6263	broad.mit.edu	37	15	34113731	34113731	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr15:34113731G>A	ENST00000389232.4	+	80	10993	c.10923G>A	c.(10921-10923)atG>atA	p.M3641I	RYR3_ENST00000415757.3_Missense_Mutation_p.M3636I	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3641					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CAGGTGAGATGAGCCCCATGG	0.527																																						uc001zhi.2		NaN																	0				ovary(5)|central_nervous_system(4)|lung(1)	10						c.(10921-10923)ATG>ATA		ryanodine receptor 3							76.0	80.0	78.0					15																	34113731		2090	4221	6311	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34113731G>A		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.10923G>A	15.37:g.34113731G>A	ENSP00000373884:p.Met3641Ile					RYR3_uc010bar.2_Missense_Mutation_p.M3636I	p.M3641I	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	80	10993	+		all_lung(180;7.18e-09)	3641					O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.10923G>A	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	10.14	1.269031	0.23221	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D	0.89875	-2.58	5.3	5.3	0.74995	.	0.231325	0.38272	N	0.001741	T	0.76543	0.4002	N	0.14661	0.345	0.58432	D	0.999999	B;B	0.13145	0.001;0.007	B;B	0.14578	0.003;0.011	T	0.68953	-0.5273	10	0.11485	T	0.65	.	9.2359	0.37466	0.1612:0.0:0.8388:0.0	.	3636;3641	Q15413-2;Q15413	.;RYR3_HUMAN	I	3641;3640;3636	ENSP00000373884:M3641I	ENSP00000354735:M3636I	M	+	3	0	RYR3	31901023	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.764000	0.47613	2.760000	0.94817	0.655000	0.94253	ATG		0.527	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1				11	29	0	0	0	1	0	11	29		
NUTM1	256646	broad.mit.edu	37	15	34647761	34647761	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr15:34647761C>T	ENST00000333756.4	+	7	1623	c.1468C>T	c.(1468-1470)Cag>Tag	p.Q490*	NUTM1_ENST00000537011.1_Nonsense_Mutation_p.Q518*|NUTM1_ENST00000438749.3_Nonsense_Mutation_p.Q508*	NM_175741.1	NP_786883	Q86Y26	NUTM1_HUMAN	NUT midline carcinoma, family member 1	490						cytoplasm (GO:0005737)|nucleus (GO:0005634)											CAGTGGCGCTCAGTTGGACTC	0.572																																						uc001zif.2		NaN								T					BRD3|BRD4		lethal midline carcinoma	BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	0				midline_organs(25)|ovary(2)|lung(2)|skin(1)	30						c.(1468-1470)CAG>TAG		nuclear protein in testis							83.0	91.0	88.0					15																	34647761		2201	4298	6499	SO:0001587	stop_gained	256646					cytoplasm|nucleus		g.chr15:34647761C>T	AF482429	CCDS32190.1, CCDS61584.1, CCDS61585.1	15q14	2014-01-28	2013-03-14	2013-03-14	ENSG00000184507	ENSG00000184507			29919	protein-coding gene	gene with protein product	"""nuclear protein in testis"""	608963	"""chromosome 15 open reading frame 55"""	C15orf55		12543779	Standard	NM_175741		Approved	NUT, DKFZp434O192, FAM22H	uc001zif.3	Q86Y26	OTTHUMG00000172348	ENST00000333756.4:c.1468C>T	15.37:g.34647761C>T	ENSP00000329448:p.Gln490*					C15orf55_uc010ucc.1_Nonsense_Mutation_p.Q518*|C15orf55_uc010ucd.1_Nonsense_Mutation_p.Q508*	p.Q490*	NM_175741	NP_786883	Q86Y26	NUT_HUMAN		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)	7	1623	+		all_lung(180;2.78e-08)	490					B4DZ00|B7Z7Y4|E7EVE8|F5H4I6|Q86YS8|Q8N7F2|Q9NTB3	Nonsense_Mutation	SNP	ENST00000333756.4	37	c.1468C>T	CCDS32190.1	.	.	.	.	.	.	.	.	.	.	C	37	6.009830	0.97200	.	.	ENSG00000184507	ENST00000537011;ENST00000438749;ENST00000354999;ENST00000333756	.	.	.	4.74	4.74	0.60224	.	0.428985	0.19799	N	0.105786	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	.	13.1021	0.59226	0.0:1.0:0.0:0.0	.	.	.	.	X	518;508;359;490	.	ENSP00000329448:Q490X	Q	+	1	0	C15orf55	32435053	0.897000	0.30589	0.081000	0.20488	0.048000	0.14542	3.347000	0.52200	2.475000	0.83589	0.655000	0.94253	CAG		0.572	NUTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418026.1		NM_175741		17	48	0	0	0	1	0	17	48		
SPRED1	161742	broad.mit.edu	37	15	38614540	38614540	+	Silent	SNP	G	G	T	rs372791883		TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr15:38614540G>T	ENST00000299084.4	+	3	1166	c.306G>T	c.(304-306)acG>acT	p.T102T	SPRED1_ENST00000561205.1_3'UTR	NM_152594.2	NP_689807.1	Q7Z699	SPRE1_HUMAN	sprouty-related, EVH1 domain containing 1	102	WH1. {ECO:0000255|PROSITE- ProRule:PRU00410}.				inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|regulation of protein deacetylation (GO:0090311)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)|protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|stem cell factor receptor binding (GO:0005173)			kidney(6)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		TTGGTCTTACGTTTCAAAGTC	0.363									Legius syndrome																												Melanoma(196;2146 2959 7698 16532)	uc001zka.3		NaN																	0				ovary(2)|lung(2)|skin(1)	5						c.(304-306)ACG>ACT		sprouty-related protein 1 with EVH-1 domain							145.0	147.0	147.0					15																	38614540		2200	4297	6497	SO:0001819	synonymous_variant	161742	Legius_syndrome	Familial Cancer Database	Neurofibromatosis type 1 - like syndrome, SPRED1 disorder	inactivation of MAPK activity|multicellular organismal development	caveola|nucleus	stem cell factor receptor binding	g.chr15:38614540G>T	AK091222	CCDS32193.1	15q14	2014-06-13			ENSG00000166068	ENSG00000166068			20249	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 147"""	609291					Standard	NM_152594		Approved	FLJ33903, PPP1R147	uc001zka.4	Q7Z699		ENST00000299084.4:c.306G>T	15.37:g.38614540G>T							p.T102T	NM_152594	NP_689807	Q7Z699	SPRE1_HUMAN		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)	3	641	+		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)	102			WH1.		B2RPJ8|Q05D53|Q8N256	Silent	SNP	ENST00000299084.4	37	c.306G>T	CCDS32193.1																																																																																				0.363	SPRED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418217.1				17	76	1	0	1.67942e-08	1	1.77359e-08	17	76		
C15orf52	388115	broad.mit.edu	37	15	40632197	40632197	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr15:40632197G>A	ENST00000559313.1	-	2	179	c.164C>T	c.(163-165)tCc>tTc	p.S55F	C15orf52_ENST00000397536.2_5'Flank|C15orf52_ENST00000557973.1_5'UTR	NM_207380.2	NP_997263.2	Q6ZUT6	CO052_HUMAN	chromosome 15 open reading frame 52	55							poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		GCTCATGGGGGACTCGGCTCT	0.612																																						uc001zlh.3		NaN																	0				large_intestine(1)	1						c.(163-165)TCC>TTC		hypothetical protein LOC388115							47.0	53.0	51.0					15																	40632197		2033	4186	6219	SO:0001583	missense	388115							g.chr15:40632197G>A	AK124643	CCDS10055.2	15q15.1	2007-06-14			ENSG00000188549	ENSG00000188549			33488	protein-coding gene	gene with protein product							Standard	NM_207380		Approved	FLJ43339	uc001zlh.4	Q6ZUT6	OTTHUMG00000129981	ENST00000559313.1:c.164C>T	15.37:g.40632197G>A	ENSP00000453969:p.Ser55Phe					C15orf52_uc001zli.1_5'UTR|C15orf52_uc010ucn.1_5'Flank	p.S55F	NM_207380	NP_997263	Q6ZUT6	CO052_HUMAN		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)	2	180	-		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	55					B9EIQ8|Q68DG9|Q6ZTM3|Q6ZU22	Missense_Mutation	SNP	ENST00000559313.1	37	c.164C>T	CCDS10055.2	.	.	.	.	.	.	.	.	.	.	G	16.42	3.118603	0.56505	.	.	ENSG00000188549	ENST00000382688	.	.	.	4.47	3.55	0.40652	.	1.129890	0.06734	N	0.777239	T	0.50000	0.1590	L	0.32530	0.975	0.09310	N	1	D	0.64830	0.994	P	0.60682	0.878	T	0.36407	-0.9749	9	0.59425	D	0.04	0.0326	8.4537	0.32886	0.1076:0.0:0.8924:0.0	.	55	Q6ZUT6	CO052_HUMAN	F	55	.	ENSP00000372135:S55F	S	-	2	0	C15orf52	38419489	0.666000	0.27475	0.032000	0.17829	0.094000	0.18550	2.085000	0.41634	1.236000	0.43740	0.462000	0.41574	TCC		0.612	C15orf52-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319567.2		NM_207380		18	9	0	0	0	1	0	18	9		
SPTBN5	51332	broad.mit.edu	37	15	42178522	42178522	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr15:42178522A>G	ENST00000320955.6	-	7	1158	c.931T>C	c.(931-933)Tac>Cac	p.Y311H		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	311					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		AGCTGCTCGTACTGGGTCTGC	0.622																																						uc001zos.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(826-828)TAC>CAC		spectrin, beta, non-erythrocytic 5							31.0	33.0	32.0					15																	42178522		2057	4200	6257	SO:0001583	missense	51332				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin		g.chr15:42178522A>G	AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"""beta V spectrin"""	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.931T>C	15.37:g.42178522A>G	ENSP00000317790:p.Tyr311His						p.Y276H	NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)	7	1159	-		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	311			Spectrin 1.			Missense_Mutation	SNP	ENST00000320955.6	37	c.826T>C		.	.	.	.	.	.	.	.	.	.	A	20.8	4.046734	0.75846	.	.	ENSG00000137877	ENST00000320955	T	0.75938	-0.98	4.55	4.55	0.56014	.	0.000000	0.64402	D	0.000005	D	0.88644	0.6492	M	0.92738	3.34	0.33411	D	0.578613	D	0.89917	1.0	D	0.97110	1.0	D	0.93642	0.6965	10	0.72032	D	0.01	.	13.6052	0.62044	1.0:0.0:0.0:0.0	.	311	Q9NRC6	SPTN5_HUMAN	H	311	ENSP00000317790:Y311H	ENSP00000317790:Y311H	Y	-	1	0	SPTBN5	39965814	1.000000	0.71417	0.981000	0.43875	0.829000	0.46940	6.449000	0.73473	1.702000	0.51228	0.459000	0.35465	TAC		0.622	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1		NM_016642		3	18	0	0	0	1	0	3	18		
PLA2G4D	283748	broad.mit.edu	37	15	42364006	42364006	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr15:42364006C>A	ENST00000290472.3	-	15	1633	c.1539G>T	c.(1537-1539)agG>agT	p.R513S		NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)	513	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phospholipase A2 activity (GO:0004623)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		CCGGGATCCTCCTCATCAGCC	0.617																																						uc001zox.2		NaN																	0				large_intestine(1)|skin(1)	2						c.(1537-1539)AGG>AGT		phospholipase A2, group IVD							49.0	54.0	52.0					15																	42364006		2203	4299	6502	SO:0001583	missense	283748				phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity	g.chr15:42364006C>A	AB090876	CCDS32203.1	15q14	2008-09-19				ENSG00000159337	3.1.1.4		30038	protein-coding gene	gene with protein product		612864				14709560	Standard	NM_178034		Approved	cPLA2delta	uc001zox.3	Q86XP0		ENST00000290472.3:c.1539G>T	15.37:g.42364006C>A	ENSP00000290472:p.Arg513Ser						p.R513S	NM_178034	NP_828848	Q86XP0	PA24D_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)	15	1634	-		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)	513			PLA2c.		Q8N176	Missense_Mutation	SNP	ENST00000290472.3	37	c.1539G>T	CCDS32203.1	.	.	.	.	.	.	.	.	.	.	C	13.81	2.349572	0.41599	.	.	ENSG00000159337	ENST00000290472	T	0.04119	3.7	4.79	2.89	0.33648	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (3);	0.374808	0.23768	N	0.044741	T	0.03220	0.0094	N	0.08118	0	0.32669	N	0.516987	P	0.47484	0.896	B	0.43413	0.419	T	0.40001	-0.9586	10	0.48119	T	0.1	-7.4413	9.6971	0.40165	0.0:0.7798:0.1419:0.0784	.	513	Q86XP0	PA24D_HUMAN	S	513	ENSP00000290472:R513S	ENSP00000290472:R513S	R	-	3	2	PLA2G4D	40151298	0.991000	0.36638	0.591000	0.28745	0.128000	0.20619	2.477000	0.45180	0.449000	0.26747	-1.080000	0.02220	AGG		0.617	PLA2G4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419317.1		NM_178034		14	34	1	0	9.05144e-12	1	9.79289e-12	14	34		
CDAN1	146059	broad.mit.edu	37	15	43018340	43018340	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr15:43018340C>A	ENST00000356231.3	-	25	3246	c.3223G>T	c.(3223-3225)Gag>Tag	p.E1075*		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	1075					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)		AGATGCTGCTCAGCAGGTGGG	0.562																																						uc001zql.2		NaN																	0				ovary(2)	2						c.(3223-3225)GAG>TAG		codanin 1							66.0	61.0	62.0					15																	43018340		2203	4299	6502	SO:0001587	stop_gained	146059					integral to membrane	protein binding	g.chr15:43018340C>A	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.3223G>T	15.37:g.43018340C>A	ENSP00000348564:p.Glu1075*					CDAN1_uc001zqj.2_RNA|CDAN1_uc001zqk.2_Nonsense_Mutation_p.E401*	p.E1075*	NM_138477	NP_612486	Q8IWY9	CDAN1_HUMAN		GBM - Glioblastoma multiforme(94;2.49e-07)	25	3340	-		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)	1075					Q6NYD0|Q7Z7L5|Q969N3	Nonsense_Mutation	SNP	ENST00000356231.3	37	c.3223G>T	CCDS32209.1	.	.	.	.	.	.	.	.	.	.	C	42	9.163148	0.99085	.	.	ENSG00000140326	ENST00000356231;ENST00000267892	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-18.5038	18.3732	0.90420	0.0:1.0:0.0:0.0	.	.	.	.	X	1075;1073	.	ENSP00000267892:E1073X	E	-	1	0	CDAN1	40805632	0.997000	0.39634	1.000000	0.80357	0.996000	0.88848	4.278000	0.58946	2.941000	0.99782	0.655000	0.94253	GAG		0.562	CDAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431103.1		XM_085300		8	31	1	0	1.12685e-05	1	1.16464e-05	8	31		
TUBGCP4	27229	broad.mit.edu	37	15	43675567	43675567	+	Silent	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr15:43675567C>G	ENST00000260383.7	+	7	842	c.588C>G	c.(586-588)ctC>ctG	p.L196L	TUBGCP4_ENST00000564079.1_Silent_p.L196L|TUBGCP4_ENST00000399460.3_Silent_p.L60L			Q9UGJ1	GCP4_HUMAN	tubulin, gamma complex associated protein 4	196					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|protein complex assembly (GO:0006461)	centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|spindle pole (GO:0000922)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		ATGGACTCCTCTTGGACCAGC	0.517																																						uc001zro.2		NaN																	0				ovary(3)	3						c.(586-588)CTC>CTG		tubulin, gamma complex associated protein 4							89.0	86.0	87.0					15																	43675567		1894	4142	6036	SO:0001819	synonymous_variant	27229				G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	structural constituent of cytoskeleton	g.chr15:43675567C>G	AJ249677	CCDS42030.1, CCDS66745.1	15q15.3	2014-08-12			ENSG00000137822	ENSG00000137822			16691	protein-coding gene	gene with protein product		609610				10562286	Standard	NM_001286414		Approved	76P, FLJ14797	uc001zrn.3	Q9UGJ1	OTTHUMG00000176647	ENST00000260383.7:c.588C>G	15.37:g.43675567C>G						TUBGCP4_uc001zrn.2_Silent_p.L196L|TUBGCP4_uc010bdh.2_RNA	p.L196L	NM_014444	NP_055259	Q9UGJ1	GCP4_HUMAN		GBM - Glioblastoma multiforme(94;3.53e-07)	7	828	+		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)	196					B3KNK6|Q969X3|Q9NVF0	Silent	SNP	ENST00000260383.7	37	c.588C>G																																																																																					0.517	TUBGCP4-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000432970.1		NM_014444		21	34	0	0	0	1	0	21	34		
FBN1	2200	broad.mit.edu	37	15	48703211	48703211	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr15:48703211C>G	ENST00000316623.5	-	66	9047	c.8592G>C	c.(8590-8592)atG>atC	p.M2864I	FBN1_ENST00000561429.1_5'Flank	NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2864					extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CCTGGATTTTCATCTTCAGAT	0.328																																						uc001zwx.1		NaN																	0				ovary(2)|large_intestine(1)	3						c.(8590-8592)ATG>ATC		fibrillin 1 precursor							87.0	85.0	86.0					15																	48703211		2198	4297	6495	SO:0001583	missense	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48703211C>G	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.8592G>C	15.37:g.48703211C>G	ENSP00000325527:p.Met2864Ile					FBN1_uc010beo.1_RNA	p.M2864I	NM_000138	NP_000129	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	66	8920	-		all_lung(180;0.00279)	2864					B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	c.8592G>C	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	C	16.80	3.222467	0.58668	.	.	ENSG00000166147	ENST00000316623	T	0.80738	-1.41	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.76285	0.3966	L	0.37800	1.135	0.80722	D	1	B	0.12013	0.005	B	0.11329	0.006	T	0.69665	-0.5084	10	0.52906	T	0.07	.	19.7983	0.96495	0.0:1.0:0.0:0.0	.	2864	P35555	FBN1_HUMAN	I	2864	ENSP00000325527:M2864I	ENSP00000325527:M2864I	M	-	3	0	FBN1	46490503	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.794000	0.85869	2.785000	0.95823	0.650000	0.86243	ATG		0.328	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1				11	34	0	0	0	1	0	11	34		
COPS2	9318	broad.mit.edu	37	15	49437194	49437194	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr15:49437194C>T	ENST00000388901.5	-	2	209	c.136G>A	c.(136-138)Gac>Aac	p.D46N	COPS2_ENST00000299259.6_Missense_Mutation_p.D46N|COPS2_ENST00000542928.1_Intron	NM_001143887.1|NM_004236.3	NP_001137359.1|NP_004227.1	P61201	CSN2_HUMAN	COP9 signalosome subunit 2	46					cell proliferation (GO:0008283)|cullin deneddylation (GO:0010388)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)	signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(2)	18		all_lung(180;0.0428)		all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05)		GCTTTTGGGTCATCTTCTTTT	0.323																																					NSCLC(36;322 1063 10349 30082 48062)|Esophageal Squamous(122;685 1633 15569 21293 52803)	uc001zxf.2		NaN																	0				lung(1)	1						c.(136-138)GAC>AAC		COP9 constitutive photomorphogenic homolog							132.0	138.0	136.0					15																	49437194		2196	4295	6491	SO:0001583	missense	9318				cullin deneddylation|transcription from RNA polymerase II promoter	cytoplasm|signalosome	protein binding|signal transducer activity	g.chr15:49437194C>T	AF212227	CCDS32235.1, CCDS45257.1	15q21.2	2013-03-14	2013-03-14						30747	protein-coding gene	gene with protein product		604508	"""COP9 constitutive photomorphogenic homolog subunit 2 (Arabidopsis)"""			7776974, 9535219	Standard	NM_004236		Approved	TRIP15, ALIEN, CSN2	uc001zxh.3	P61201		ENST00000388901.5:c.136G>A	15.37:g.49437194C>T	ENSP00000373553:p.Asp46Asn					COPS2_uc001zxh.2_Missense_Mutation_p.D46N|COPS2_uc010ufa.1_Intron	p.D46N	NM_004236	NP_004227	P61201	CSN2_HUMAN		all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05)	2	215	-		all_lung(180;0.0428)	46					O88950|Q15647|Q6FGP4|Q9BY54|Q9R249|Q9UNI2|Q9UNQ5	Missense_Mutation	SNP	ENST00000388901.5	37	c.136G>A	CCDS32235.1	.	.	.	.	.	.	.	.	.	.	C	14.49	2.551556	0.45487	.	.	ENSG00000166200	ENST00000299259;ENST00000388901	.	.	.	5.74	4.82	0.62117	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.44644	0.1303	L	0.28694	0.88	0.80722	D	1	B;B	0.18166	0.026;0.026	B;B	0.20767	0.031;0.031	T	0.29971	-0.9994	9	0.13470	T	0.59	-8.7334	14.5932	0.68386	0.1459:0.8541:0.0:0.0	.	47;46	Q59EL2;P61201	.;CSN2_HUMAN	N	46	.	ENSP00000299259:D46N	D	-	1	0	COPS2	47224486	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.794000	0.85869	1.416000	0.47057	0.655000	0.94253	GAC		0.323	COPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417840.1		NM_004236		27	33	0	0	0	1	0	27	33		
GLDN	342035	broad.mit.edu	37	15	51634220	51634220	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr15:51634220G>A	ENST00000335449.6	+	1	395	c.339G>A	c.(337-339)atG>atA	p.M113I		NM_181789.2	NP_861454.2	Q6ZMI3	GLDN_HUMAN	gliomedin	113					clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|microvillus organization (GO:0032528)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		ACATGCTGATGATGATGACCT	0.711																																						uc002aba.2		NaN																	0				ovary(2)	2						c.(337-339)ATG>ATA		gliomedin							45.0	52.0	50.0					15																	51634220		2028	4184	6212	SO:0001583	missense	342035				cell differentiation|nervous system development	collagen|integral to membrane|plasma membrane		g.chr15:51634220G>A	AY358144	CCDS10140.2	15q15.3	2008-02-05	2005-10-06	2005-10-06	ENSG00000186417	ENSG00000186417			29514	protein-coding gene	gene with protein product		608603	"""collomin"""	COLM		16039564, 12642876	Standard	XM_005254338		Approved	CRG-L2, CLOM, colmedin, UNC-112	uc002aba.3	Q6ZMI3	OTTHUMG00000131746	ENST00000335449.6:c.339G>A	15.37:g.51634220G>A	ENSP00000335196:p.Met113Ile					GLDN_uc010bez.1_Missense_Mutation_p.M113I	p.M113I	NM_181789	NP_861454	Q6ZMI3	GLDN_HUMAN		all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)	1	508	+			113			Extracellular (Potential).		Q6UXZ7|Q7Z359	Missense_Mutation	SNP	ENST00000335449.6	37	c.339G>A	CCDS10140.2	.	.	.	.	.	.	.	.	.	.	G	17.50	3.404252	0.62288	.	.	ENSG00000186417	ENST00000335449	D	0.91686	-2.89	4.83	4.83	0.62350	.	0.000000	0.42294	U	0.000723	D	0.86020	0.5833	L	0.36672	1.1	0.80722	D	1	P	0.35077	0.483	B	0.27887	0.084	D	0.84223	0.0462	10	0.18710	T	0.47	.	15.8507	0.78927	0.0:0.0:1.0:0.0	.	113	Q6ZMI3	GLDN_HUMAN	I	113	ENSP00000335196:M113I	ENSP00000335196:M113I	M	+	3	0	GLDN	49421512	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.687000	0.68219	2.496000	0.84212	0.462000	0.41574	ATG		0.711	GLDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254667.2		NM_181789		14	37	0	0	0	1	0	14	37		
LEO1	123169	broad.mit.edu	37	15	52242065	52242065	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr15:52242065C>T	ENST00000299601.5	-	10	1798	c.1738G>A	c.(1738-1740)Gaa>Aaa	p.E580K	LEO1_ENST00000315141.5_Missense_Mutation_p.E520K	NM_138792.2	NP_620147.1	Q8WVC0	LEO1_HUMAN	Leo1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	580					endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|mRNA polyadenylation (GO:0006378)|negative regulation of myeloid cell differentiation (GO:0045638)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	14				all cancers(107;0.00264)		TCCTCGCCTTCCTCCTCCTCA	0.512																																					Esophageal Squamous(40;229 896 18505 32465 43844)|Ovarian(53;886 1123 14462 18432 23189)	uc002abo.2		NaN																	0					0						c.(1738-1740)GAA>AAA		Leo1, Paf1/RNA polymerase II complex component,							127.0	118.0	121.0					15																	52242065		2195	4293	6488	SO:0001583	missense	123169				histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding	g.chr15:52242065C>T	AY302186	CCDS10146.1, CCDS66767.1	15q21.2	2008-02-05			ENSG00000166477	ENSG00000166477			30401	protein-coding gene	gene with protein product		610507				15632063	Standard	NM_001286430		Approved		uc002abo.3	Q8WVC0	OTTHUMG00000131843	ENST00000299601.5:c.1738G>A	15.37:g.52242065C>T	ENSP00000299601:p.Glu580Lys					LEO1_uc010bfd.2_Missense_Mutation_p.E520K	p.E580K	NM_138792	NP_620147	Q8WVC0	LEO1_HUMAN		all cancers(107;0.00264)	10	1754	-			580					Q96N99	Missense_Mutation	SNP	ENST00000299601.5	37	c.1738G>A	CCDS10146.1	.	.	.	.	.	.	.	.	.	.	.	37	6.005975	0.97195	.	.	ENSG00000166477	ENST00000299601;ENST00000538386;ENST00000315141	.	.	.	5.71	5.71	0.89125	.	0.045428	0.85682	D	0.000000	T	0.73094	0.3543	L	0.48642	1.525	0.80722	D	1	D;D	0.63046	0.99;0.992	P;P	0.61940	0.896;0.887	T	0.70063	-0.4975	9	0.39692	T	0.17	.	19.8505	0.96738	0.0:1.0:0.0:0.0	.	520;580	Q8WVC0-2;Q8WVC0	.;LEO1_HUMAN	K	580;558;520	.	ENSP00000299601:E580K	E	-	1	0	LEO1	50029357	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.700000	0.84556	2.688000	0.91661	0.655000	0.94253	GAA		0.512	LEO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254791.2		NM_138792		27	58	0	0	0	1	0	27	58		
ZNF280D	54816	broad.mit.edu	37	15	56981644	56981644	+	Nonsense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr15:56981644G>C	ENST00000267807.7	-	8	740	c.524C>G	c.(523-525)tCa>tGa	p.S175*	ZNF280D_ENST00000559237.1_Nonsense_Mutation_p.S162*|ZNF280D_ENST00000559000.1_Nonsense_Mutation_p.S162*|ZNF280D_ENST00000396245.1_De_novo_Start_OutOfFrame	NM_017661.2	NP_060131.2	Q6N043	Z280D_HUMAN	zinc finger protein 280D	175					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		AGGACGTTTTGATAAAAATGA	0.284																																						uc002adu.2		NaN																	0				large_intestine(1)|ovary(1)|skin(1)	3						c.(523-525)TCA>TGA		suppressor of hairy wing homolog 4 isoform 1							48.0	49.0	49.0					15																	56981644		2192	4292	6484	SO:0001587	stop_gained	54816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:56981644G>C	AB046804	CCDS32245.1, CCDS42041.1, CCDS58364.1	15q21.2	2008-05-02	2007-09-20	2007-09-20					25953	protein-coding gene	gene with protein product			"""suppressor of hairy wing homolog 4 (Drosophila)"""	SUHW4		10997877	Standard	XM_005254481		Approved	FLJ20086, ZNF634	uc002adu.3	Q6N043		ENST00000267807.7:c.524C>G	15.37:g.56981644G>C	ENSP00000267807:p.Ser175*					ZNF280D_uc002adv.2_Nonsense_Mutation_p.S162*|ZNF280D_uc010bfq.2_Nonsense_Mutation_p.S175*|ZNF280D_uc002adw.1_Nonsense_Mutation_p.S203*|ZNF280D_uc010bfr.1_RNA	p.S175*	NM_017661	NP_060131	Q6N043	Z280D_HUMAN		all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)	8	741	-			175					A1L495|B2RMT6|Q6MZM6|Q6N085|Q6P2R6|Q7Z6J5|Q9H0U5|Q9HCI8|Q9NXS0	Nonsense_Mutation	SNP	ENST00000267807.7	37	c.524C>G	CCDS32245.1	.	.	.	.	.	.	.	.	.	.	G	18.72	3.684113	0.68157	.	.	ENSG00000137871	ENST00000267807;ENST00000455329;ENST00000260435	.	.	.	4.84	1.89	0.25635	.	1.228400	0.06314	N	0.703234	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	-2.3171	4.4907	0.11812	0.2573:0.0:0.587:0.1557	.	.	.	.	X	175;162;11	.	ENSP00000260435:S11X	S	-	2	0	ZNF280D	54768936	0.998000	0.40836	1.000000	0.80357	0.674000	0.39518	2.985000	0.49362	0.553000	0.29044	-0.262000	0.10625	TCA		0.284	ZNF280D-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418891.2		XM_370867		10	15	0	0	0	1	0	10	15		
CGNL1	84952	broad.mit.edu	37	15	57730472	57730472	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr15:57730472C>G	ENST00000281282.5	+	2	353	c.275C>G	c.(274-276)tCt>tGt	p.S92C		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	92	Head.					myosin complex (GO:0016459)|tight junction (GO:0005923)	motor activity (GO:0003774)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		AGCAATGGTTCTGTGCCAAAG	0.502																																						uc002aeg.2		NaN																	0				skin(6)|ovary(4)|central_nervous_system(1)	11						c.(274-276)TCT>TGT		cingulin-like 1							58.0	61.0	60.0					15																	57730472		2192	4292	6484	SO:0001583	missense	84952					myosin complex|tight junction	motor activity	g.chr15:57730472C>G	AY274808	CCDS10161.1	15q21.3	2011-06-10			ENSG00000128849	ENSG00000128849			25931	protein-coding gene	gene with protein product		607856				11214970	Standard	NM_001252335		Approved	FLJ14957, JACOP, KIAA1749, paracingulin	uc002aeg.3	Q0VF96	OTTHUMG00000166485	ENST00000281282.5:c.275C>G	15.37:g.57730472C>G	ENSP00000281282:p.Ser92Cys					CGNL1_uc010bfw.2_Missense_Mutation_p.S92C	p.S92C	NM_032866	NP_116255	Q0VF96	CGNL1_HUMAN		all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)	2	351	+			92			Head.		Q05BZ4|Q52LR0|Q695C7|Q7Z2L3|Q96JV2|Q96MN6|Q9C0B4	Missense_Mutation	SNP	ENST00000281282.5	37	c.275C>G	CCDS10161.1	.	.	.	.	.	.	.	.	.	.	C	3.525	-0.096928	0.07010	.	.	ENSG00000128849	ENST00000281282	T	0.77098	-1.07	4.76	2.85	0.33270	.	0.869014	0.09763	N	0.759048	T	0.70228	0.3200	L	0.50333	1.59	0.09310	N	1	P	0.38642	0.641	B	0.36959	0.237	T	0.60979	-0.7155	10	0.66056	D	0.02	0.1933	5.6228	0.17467	0.1452:0.6324:0.1407:0.0817	.	92	Q0VF96	CGNL1_HUMAN	C	92	ENSP00000281282:S92C	ENSP00000281282:S92C	S	+	2	0	CGNL1	55517764	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.230000	0.17852	0.600000	0.29862	-0.181000	0.13052	TCT		0.502	CGNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255482.2		NM_032866		11	44	0	0	0	1	0	11	44		
RNF111	54778	broad.mit.edu	37	15	59323779	59323779	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr15:59323779C>G	ENST00000557998.1	+	2	1045	c.758C>G	c.(757-759)tCt>tGt	p.S253C	RNF111_ENST00000559209.1_Missense_Mutation_p.S253C|RNF111_ENST00000434298.1_Missense_Mutation_p.S253C|RNF111_ENST00000561186.1_Missense_Mutation_p.S253C|RNF111_ENST00000348370.4_Missense_Mutation_p.S253C	NM_001270530.1	NP_001257459.1	Q6ZNA4	RN111_HUMAN	ring finger protein 111	253	Interaction with AXIN1.|Ser-rich.				gene expression (GO:0010467)|pattern specification process (GO:0007389)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein polyubiquitination (GO:0000209)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|SUMO polymer binding (GO:0032184)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		CTACCTAGTTCTAGTAGTTCC	0.408																																					NSCLC(72;983 1365 10746 34387 47081)	uc002afv.2		NaN																	0				ovary(2)	2						c.(757-759)TCT>TGT		ring finger protein 111							138.0	136.0	136.0					15																	59323779		2192	4291	6483	SO:0001583	missense	54778				multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:59323779C>G	AL157474	CCDS10169.1, CCDS58365.1, CCDS58366.1	15q21	2013-01-09			ENSG00000157450	ENSG00000157450		"""RING-type (C3HC4) zinc fingers"""	17384	protein-coding gene	gene with protein product		605840				11298452	Standard	NM_017610		Approved	ARK, Arkadia, FLJ38008, DKFZP761D081	uc002aft.4	Q6ZNA4	OTTHUMG00000132716	ENST00000557998.1:c.758C>G	15.37:g.59323779C>G	ENSP00000452732:p.Ser253Cys					RNF111_uc002afs.2_Missense_Mutation_p.S253C|RNF111_uc002aft.2_Missense_Mutation_p.S253C|RNF111_uc002afu.2_Missense_Mutation_p.S253C|RNF111_uc002afw.2_Missense_Mutation_p.S253C	p.S253C	NM_017610	NP_060080	Q6ZNA4	RN111_HUMAN		all cancers(107;0.194)	2	1037	+			253			Ser-rich.|Interaction with AXIN1.		C9JUS4|H0YN55|Q6P9A4|Q6ZMU2|Q7L428|Q7Z346|Q8N1P9|Q8WUA3|Q9NSR1	Missense_Mutation	SNP	ENST00000557998.1	37	c.758C>G	CCDS58366.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.217573	0.79352	.	.	ENSG00000157450	ENST00000348370;ENST00000434298	T;T	0.26067	1.76;1.77	5.28	5.28	0.74379	.	0.059798	0.64402	D	0.000002	T	0.49508	0.1561	M	0.63843	1.955	0.58432	D	0.999995	D;D;D	0.76494	0.999;0.999;0.999	D;P;D	0.65443	0.935;0.862;0.935	T	0.49698	-0.8912	10	0.87932	D	0	-28.2103	19.2842	0.94065	0.0:1.0:0.0:0.0	.	253;253;253	Q6ZNA4-3;Q6ZNA4;Q6ZNA4-2	.;RN111_HUMAN;.	C	253	ENSP00000288199:S253C;ENSP00000393641:S253C	ENSP00000288199:S253C	S	+	2	0	RNF111	57111071	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.853000	0.75435	2.629000	0.89072	0.650000	0.86243	TCT		0.408	RNF111-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000416012.1		NM_017610		6	118	0	0	0	1	0	6	118		
PLEKHO2	80301	broad.mit.edu	37	15	65157298	65157298	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr15:65157298G>A	ENST00000323544.4	+	6	812	c.684G>A	c.(682-684)gaG>gaA	p.E228E	AC069368.3_ENST00000437723.1_Intron	NM_001195059.1|NM_025201.4	NP_001181988.1|NP_079477.2	Q8TD55	PKHO2_HUMAN	pleckstrin homology domain containing, family O member 2	228	Pro-rich.									NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25						CTGTGGGGGAGAGAGCCCCAA	0.637																																						uc002anv.2		NaN																	0				ovary(1)|lung(1)	2						c.(682-684)GAG>GAA		pleckstrin homology domain containing, family O							58.0	65.0	63.0					15																	65157298		2202	4299	6501	SO:0001819	synonymous_variant	80301							g.chr15:65157298G>A	AF318373	CCDS10196.1, CCDS73739.1	15q22.31	2013-01-10	2007-12-14	2007-12-14	ENSG00000241839	ENSG00000241839		"""Pleckstrin homology (PH) domain containing"""	30026	protein-coding gene	gene with protein product			"""pleckstrin homology domain containing, family Q member 1"""	PLEKHQ1		12477932	Standard	NM_025201		Approved	DKFZp761K2312, PP1628, pp9099	uc002anv.3	Q8TD55	OTTHUMG00000133050	ENST00000323544.4:c.684G>A	15.37:g.65157298G>A						PLEKHO2_uc010bgz.2_Intron|PLEKHO2_uc002anw.2_Silent_p.E178E	p.E228E	NM_025201	NP_079477	Q8TD55	PKHO2_HUMAN			6	818	+			228			Pro-rich.		Q7L4H4|Q8WYS8	Silent	SNP	ENST00000323544.4	37	c.684G>A	CCDS10196.1																																																																																				0.637	PLEKHO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256659.1		NM_025201		8	83	0	0	0	1	0	8	83		
MTFMT	123263	broad.mit.edu	37	15	65295436	65295436	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr15:65295436C>G	ENST00000220058.4	-	9	1147	c.1134G>C	c.(1132-1134)caG>caC	p.Q378H		NM_139242.3	NP_640335.2	Q96DP5	FMT_HUMAN	mitochondrial methionyl-tRNA formyltransferase	378						mitochondrion (GO:0005739)	methionyl-tRNA formyltransferase activity (GO:0004479)			endometrium(1)|large_intestine(3)|lung(3)|ovary(3)	10					Tetrahydrofolic acid(DB00116)	CAGTTTTTTTCTGCTTCTTCT	0.348																																						uc002aof.3		NaN																	0				ovary(2)	2						c.(1132-1134)CAG>CAC		mitochondrial methionyl-tRNA formyltransferase	Tetrahydrofolic acid(DB00116)						114.0	103.0	106.0					15																	65295436		1829	4091	5920	SO:0001583	missense	123263					mitochondrion	methionyl-tRNA formyltransferase activity|methyltransferase activity	g.chr15:65295436C>G	AK055688	CCDS45280.1	15q22.31	2006-11-29		2005-08-09		ENSG00000103707			29666	protein-coding gene	gene with protein product		611766				9614118	Standard	NM_139242		Approved	FMT1	uc002aof.4	Q96DP5		ENST00000220058.4:c.1134G>C	15.37:g.65295436C>G	ENSP00000220058:p.Gln378His						p.Q378H	NM_139242	NP_640335	Q96DP5	FMT_HUMAN			9	1160	-			378					B7Z734	Missense_Mutation	SNP	ENST00000220058.4	37	c.1134G>C	CCDS45280.1	.	.	.	.	.	.	.	.	.	.	C	7.600	0.672601	0.14776	.	.	ENSG00000103707	ENST00000220058	T	0.64803	-0.12	5.65	-2.66	0.06077	.	1.230070	0.05518	N	0.561504	T	0.46737	0.1408	L	0.29908	0.895	0.09310	N	1	P	0.45283	0.855	B	0.34824	0.19	T	0.51116	-0.8746	10	0.62326	D	0.03	-0.1206	12.1756	0.54184	0.0:0.6381:0.0:0.3619	.	378	Q96DP5	FMT_HUMAN	H	378	ENSP00000220058:Q378H	ENSP00000220058:Q378H	Q	-	3	2	MTFMT	63082489	0.000000	0.05858	0.000000	0.03702	0.339000	0.28857	-1.775000	0.01783	-0.399000	0.07668	0.650000	0.86243	CAG		0.348	MTFMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418155.1		NM_139242		14	20	0	0	0	1	0	14	20		
SLC24A1	9187	broad.mit.edu	37	15	65917858	65917858	+	Silent	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr15:65917858C>A	ENST00000261892.6	+	2	1727	c.1440C>A	c.(1438-1440)gcC>gcA	p.A480A	SLC24A1_ENST00000546330.1_Silent_p.A480A|SLC24A1_ENST00000544319.2_Silent_p.A480A|SLC24A1_ENST00000537259.1_Silent_p.A480A|SLC24A1_ENST00000339868.6_Silent_p.A480A|SLC24A1_ENST00000399033.4_Silent_p.A480A	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 1	480					calcium ion transport (GO:0006816)|ion transport (GO:0006811)|phototransduction, visible light (GO:0007603)|response to light intensity (GO:0009642)|rhodopsin mediated signaling pathway (GO:0016056)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|outer membrane (GO:0019867)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						TCGTTCCAGCCCTGGGTGTCA	0.582																																						uc010ujf.1		NaN																	0					0						c.(1438-1440)GCC>GCA		solute carrier family 24							170.0	170.0	170.0					15																	65917858		2095	4232	6327	SO:0001819	synonymous_variant	9187				response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity	g.chr15:65917858C>A	AF062922	CCDS45284.1, CCDS73742.1, CCDS73743.1, CCDS73744.1	15q22.31	2014-01-28			ENSG00000074621	ENSG00000074621		"""Solute carriers"""	10975	protein-coding gene	gene with protein product		603617				9856482	Standard	NM_004727		Approved	NCKX1, NCKX, RODX, KIAA0702, HsT17412, CSNB1D	uc010ujf.2	O60721	OTTHUMG00000167960	ENST00000261892.6:c.1440C>A	15.37:g.65917858C>A						SLC24A1_uc010ujd.1_Silent_p.A480A|SLC24A1_uc010uje.1_Silent_p.A480A|SLC24A1_uc010ujg.1_Silent_p.A480A|SLC24A1_uc010ujh.1_Silent_p.A480A	p.A480A	NM_004727	NP_004718	O60721	NCKX1_HUMAN			2	1727	+			480			Cytoplasmic (Potential).		O43485|O75184|Q17RM9	Silent	SNP	ENST00000261892.6	37	c.1440C>A	CCDS45284.1																																																																																				0.582	SLC24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397304.1		NM_004727		10	94	1	0	1.58986e-06	1	1.65835e-06	10	94		
UACA	55075	broad.mit.edu	37	15	70960935	70960935	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr15:70960935C>G	ENST00000322954.6	-	16	2273	c.2088G>C	c.(2086-2088)caG>caC	p.Q696H	UACA_ENST00000560441.1_Missense_Mutation_p.Q681H|UACA_ENST00000539319.1_Missense_Mutation_p.Q587H|UACA_ENST00000379983.2_Missense_Mutation_p.Q683H	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	696					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of protein import into nucleus (GO:0042307)|response to UV (GO:0009411)	apoptosome (GO:0043293)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						CTCCTGATTTCTGTTCTAATC	0.363																																						uc002asr.2		NaN																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(2086-2088)CAG>CAC		uveal autoantigen with coiled-coil domains and							126.0	128.0	127.0					15																	70960935		2198	4297	6495	SO:0001583	missense	55075					cytoskeleton|extracellular region		g.chr15:70960935C>G	AF322916	CCDS10235.1, CCDS32280.1	15q22-q24	2013-01-10			ENSG00000137831	ENSG00000137831		"""Ankyrin repeat domain containing"""	15947	protein-coding gene	gene with protein product		612516				11162650, 10997877	Standard	NM_001008224		Approved	FLJ10128, KIAA1561	uc002asr.3	Q9BZF9	OTTHUMG00000133363	ENST00000322954.6:c.2088G>C	15.37:g.70960935C>G	ENSP00000314556:p.Gln696His					UACA_uc010uke.1_Missense_Mutation_p.Q587H|UACA_uc002asq.2_Missense_Mutation_p.Q683H|UACA_uc010bin.1_Missense_Mutation_p.Q671H	p.Q696H	NM_018003	NP_060473	Q9BZF9	UACA_HUMAN			16	2192	-			696			Potential.		G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Missense_Mutation	SNP	ENST00000322954.6	37	c.2088G>C	CCDS10235.1	.	.	.	.	.	.	.	.	.	.	C	7.952	0.745099	0.15710	.	.	ENSG00000137831	ENST00000322954;ENST00000379983;ENST00000539319	T;T;T	0.35236	1.32;1.34;1.8	5.6	-7.67	0.01272	.	0.211588	0.33057	N	0.005327	T	0.20740	0.0499	L	0.29908	0.895	0.23510	N	0.997527	B;B;B;B	0.25272	0.035;0.036;0.036;0.122	B;B;B;B	0.24848	0.033;0.015;0.015;0.056	T	0.07770	-1.0755	10	0.33940	T	0.23	-19.6508	14.2509	0.66019	0.0:0.688:0.158:0.154	.	587;696;696;683	F5H2B9;B7ZKM6;Q9BZF9;G3XAG2	.;.;UACA_HUMAN;.	H	696;683;587	ENSP00000314556:Q696H;ENSP00000369319:Q683H;ENSP00000438667:Q587H	ENSP00000314556:Q696H	Q	-	3	2	UACA	68747989	0.000000	0.05858	0.127000	0.21898	0.597000	0.36814	-2.288000	0.01150	-1.035000	0.03291	-0.367000	0.07326	CAG		0.363	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257199.2				27	59	0	0	0	1	0	27	59		
REC114	283677	broad.mit.edu	37	15	73848666	73848666	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr15:73848666G>C	ENST00000331090.6	+	5	598	c.570G>C	c.(568-570)caG>caC	p.Q190H	C15orf60_ENST00000560581.1_Missense_Mutation_p.Q162H	NM_001042367.1	NP_001035826.1	Q7Z4M0	RE114_HUMAN		190					DNA recombination (GO:0006310)|meiotic nuclear division (GO:0007126)					endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|pancreas(1)|prostate(2)	17						CAGAACAACAGCAAGTGTGTG	0.443																																						uc002avq.2		NaN																	0				pancreas(1)	1						c.(568-570)CAG>CAC		hypothetical protein LOC283677							85.0	91.0	89.0					15																	73848666		2030	4188	6218	SO:0001583	missense	283677							g.chr15:73848666G>C																												ENST00000331090.6:c.570G>C	15.37:g.73848666G>C	ENSP00000328423:p.Gln190His					C15orf60_uc010bjb.2_Missense_Mutation_p.Q162H	p.Q190H	NM_001042367	NP_001035826	Q7Z4M0	CO060_HUMAN			5	598	+			190						Missense_Mutation	SNP	ENST00000331090.6	37	c.570G>C	CCDS45296.1	.	.	.	.	.	.	.	.	.	.	G	2.832	-0.242318	0.05906	.	.	ENSG00000183324	ENST00000331090	T	0.45668	0.89	4.27	1.08	0.20341	.	0.819922	0.10740	N	0.639540	T	0.22044	0.0531	N	0.08118	0	0.09310	N	1	P	0.43701	0.815	B	0.43155	0.41	T	0.08889	-1.0700	10	0.52906	T	0.07	-17.4359	2.8953	0.05689	0.2377:0.0:0.542:0.2203	.	190	Q7Z4M0	CO060_HUMAN	H	190	ENSP00000328423:Q190H	ENSP00000328423:Q190H	Q	+	3	2	C15orf60	71635719	0.097000	0.21791	0.079000	0.20413	0.231000	0.25187	1.889000	0.39718	0.890000	0.36211	0.563000	0.77884	CAG		0.443	C15orf60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419069.1				12	34	0	0	0	1	0	12	34		
CCDC33	80125	broad.mit.edu	37	15	74573088	74573088	+	Missense_Mutation	SNP	G	G	C	rs545877524		TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr15:74573088G>C	ENST00000398814.3	+	9	1400	c.969G>C	c.(967-969)aaG>aaC	p.K323N	CCDC33_ENST00000321288.5_Missense_Mutation_p.K526N	NM_025055.3	NP_079331.3	Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	526	C2.									breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						TGTACCAGAAGATGCTGACAG	0.622																																						uc002axo.2		NaN																	0				ovary(3)|skin(2)	5						c.(967-969)AAG>AAC		coiled-coil domain containing 33 isoform 1							82.0	90.0	88.0					15																	74573088		1944	4156	6100	SO:0001583	missense	80125						protein binding	g.chr15:74573088G>C	BC025689	CCDS42058.1, CCDS42059.1, CCDS73753.1	15q24.1	2009-08-06				ENSG00000140481			26552	protein-coding gene	gene with protein product	"""cancer/testis antigen 61"""					12477932	Standard	NM_025055		Approved	FLJ32855, CT61	uc002axo.4	Q8N5R6		ENST00000398814.3:c.969G>C	15.37:g.74573088G>C	ENSP00000381795:p.Lys323Asn					CCDC33_uc002axp.2_Missense_Mutation_p.K145N	p.K323N	NM_025055	NP_079331	Q8N5R6	CCD33_HUMAN			9	1363	+			526					A8K3U4|A8MPQ6|A8MV61|A8MVU9|B3KQ49|Q8TAX6|Q9H5Q6	Missense_Mutation	SNP	ENST00000398814.3	37	c.969G>C	CCDS42058.1	.	.	.	.	.	.	.	.	.	.	G	5.899	0.350031	0.11182	.	.	ENSG00000140481	ENST00000321288;ENST00000398814	T;T	0.26067	1.76;2.09	5.42	0.374	0.16183	.	0.166320	0.37483	N	0.002066	T	0.14830	0.0358	L	0.42245	1.32	0.21325	N	0.999721	B;B	0.32829	0.386;0.003	B;B	0.24269	0.052;0.006	T	0.13442	-1.0509	10	0.30854	T	0.27	.	5.5202	0.16927	0.3005:0.1489:0.5506:0.0	.	526;323	C9JFX2;Q8N5R6-6	.;.	N	526;323	ENSP00000325012:K526N;ENSP00000381795:K323N	ENSP00000325012:K526N	K	+	3	2	CCDC33	72360141	1.000000	0.71417	0.610000	0.28997	0.189000	0.23516	0.698000	0.25571	0.176000	0.19873	-0.226000	0.12346	AAG		0.622	CCDC33-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419491.2		NM_182791		17	55	0	0	0	1	0	17	55		
LMAN1L	79748	broad.mit.edu	37	15	75108987	75108987	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr15:75108987C>T	ENST00000309664.5	+	4	592	c.453C>T	c.(451-453)atC>atT	p.I151I	LMAN1L_ENST00000379709.3_Silent_p.I151I	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	151	L-type lectin-like. {ECO:0000255|PROSITE- ProRule:PRU00658}.					integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GTCCTGCCATCCGTGTGCTGG	0.672																																						uc002ayt.1		NaN																	0					0						c.(451-453)ATC>ATT		lectin, mannose-binding, 1 like precursor							73.0	67.0	69.0					15																	75108987		2197	4296	6493	SO:0001819	synonymous_variant	79748					ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding	g.chr15:75108987C>T	AF303398	CCDS10270.1	15q24.1	2005-08-05			ENSG00000140506	ENSG00000140506			6632	protein-coding gene	gene with protein product		609548				11255007	Standard	NM_021819		Approved	ERGL, ERGIC-53L	uc002ayt.1	Q9HAT1	OTTHUMG00000142813	ENST00000309664.5:c.453C>T	15.37:g.75108987C>T						LMAN1L_uc010bkd.2_Silent_p.I79I|LMAN1L_uc010ulo.1_Silent_p.I43I|LMAN1L_uc010bke.1_Silent_p.I151I	p.I151I	NM_021819	NP_068591	Q9HAT1	LMA1L_HUMAN			4	455	+			151			Lumenal (Potential).|L-type lectin-like.		Q6UWN2	Silent	SNP	ENST00000309664.5	37	c.453C>T	CCDS10270.1																																																																																				0.672	LMAN1L-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286397.4				5	47	0	0	0	1	0	5	47		
PTPN9	5780	broad.mit.edu	37	15	75798197	75798197	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr15:75798197C>T	ENST00000306726.2	-	7	1299	c.787G>A	c.(787-789)Gag>Aag	p.E263K	PTPN9_ENST00000564970.1_5'Flank	NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN	protein tyrosine phosphatase, non-receptor type 9	263					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|protein tyrosine phosphatase activity (GO:0004725)			central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AGGATGATCTCATCGAAGGGA	0.512																																						uc002bal.2		NaN																	0				lung(1)|skin(1)	2						c.(787-789)GAG>AAG		protein tyrosine phosphatase, non-receptor type							123.0	111.0	115.0					15																	75798197		2197	4294	6491	SO:0001583	missense	5780					cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding	g.chr15:75798197C>T		CCDS10280.1	15q23	2011-06-09			ENSG00000169410	ENSG00000169410		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9661	protein-coding gene	gene with protein product		600768				1557404	Standard	NM_002833		Approved	MEG2	uc002bal.3	P43378	OTTHUMG00000142838	ENST00000306726.2:c.787G>A	15.37:g.75798197C>T	ENSP00000303554:p.Glu263Lys						p.E263K	NM_002833	NP_002824	P43378	PTN9_HUMAN			7	1295	-			263					Q53XR9	Missense_Mutation	SNP	ENST00000306726.2	37	c.787G>A	CCDS10280.1	.	.	.	.	.	.	.	.	.	.	C	16.94	3.261308	0.59431	.	.	ENSG00000169410	ENST00000306726;ENST00000544966	T	0.63255	-0.03	5.65	5.65	0.86999	Cellular retinaldehyde-binding/triple function, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.59959	0.2232	L	0.53249	1.67	0.80722	D	1	B	0.17852	0.024	B	0.12837	0.008	T	0.53732	-0.8397	10	0.28530	T	0.3	.	18.7182	0.91684	0.0:1.0:0.0:0.0	.	263	P43378	PTN9_HUMAN	K	263;253	ENSP00000303554:E263K	ENSP00000303554:E263K	E	-	1	0	PTPN9	73585252	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.162000	0.77515	2.676000	0.91093	0.655000	0.94253	GAG		0.512	PTPN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286474.1				29	15	0	0	0	1	0	29	15		
PEAK1	79834	broad.mit.edu	37	15	77407505	77407505	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr15:77407505C>G	ENST00000560626.2	-	7	4709	c.4234G>C	c.(4234-4236)Gaa>Caa	p.E1412Q	PEAK1_ENST00000312493.4_Missense_Mutation_p.E1412Q			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	1412	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell migration (GO:0016477)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										TCATCCTTTTCAGGGTCATCT	0.498																																						uc002bcm.2		NaN																	0					0						c.(4234-4236)GAA>CAA		NKF3 kinase family member							112.0	105.0	107.0					15																	77407505		1927	4140	6067	SO:0001583	missense	79834				cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr15:77407505C>G		CCDS42062.1	15q24.3	2013-09-27			ENSG00000173517	ENSG00000173517			29431	protein-coding gene	gene with protein product		614248				16879967, 20534451	Standard	NM_024776		Approved	KIAA2002, sgk269		Q9H792	OTTHUMG00000172618	ENST00000560626.2:c.4234G>C	15.37:g.77407505C>G	ENSP00000452796:p.Glu1412Gln						p.E1412Q	NM_024776	NP_079052	Q9H792	PEAK1_HUMAN		STAD - Stomach adenocarcinoma(199;0.124)	6	4542	-			1412			Protein kinase.		Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	Missense_Mutation	SNP	ENST00000560626.2	37	c.4234G>C	CCDS42062.1	.	.	.	.	.	.	.	.	.	.	C	6.112	0.388980	0.11581	.	.	ENSG00000173517	ENST00000312493	T	0.70045	-0.45	5.29	4.36	0.52297	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.188067	0.32028	U	0.006690	T	0.58047	0.2095	L	0.44542	1.39	0.09310	N	1	P	0.37955	0.612	B	0.34038	0.174	T	0.53968	-0.8363	10	0.48119	T	0.1	-1.7573	15.3313	0.74215	0.1409:0.8591:0.0:0.0	.	1412	Q9H792	PEAK1_HUMAN	Q	1412	ENSP00000309230:E1412Q	ENSP00000309230:E1412Q	E	-	1	0	AC087465.1	75194560	1.000000	0.71417	0.035000	0.18076	0.023000	0.10783	5.949000	0.70257	1.233000	0.43693	-0.310000	0.09108	GAA		0.498	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419483.3				17	58	0	0	0	1	0	17	58		
ACAN	176	broad.mit.edu	37	15	89398590	89398590	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr15:89398590G>A	ENST00000561243.1	+	11	2774	c.2774G>A	c.(2773-2775)aGa>aAa	p.R925K	ACAN_ENST00000439576.2_Missense_Mutation_p.R925K|ACAN_ENST00000352105.7_Missense_Mutation_p.R925K|ACAN_ENST00000559004.1_Missense_Mutation_p.R925K			P16112	PGCA_HUMAN	aggrecan	924	CS-1.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GATGAAGAGAGAATTGAGTGG	0.577																																						uc010upo.1		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(2773-2775)AGA>AAA		aggrecan isoform 2 precursor							48.0	53.0	51.0					15																	89398590		1954	4136	6090	SO:0001583	missense	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89398590G>A	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.2774G>A	15.37:g.89398590G>A	ENSP00000453342:p.Arg925Lys					ACAN_uc010upp.1_Missense_Mutation_p.R925K|ACAN_uc002bna.2_RNA	p.R925K	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		12	3148	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		925					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	c.2774G>A	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	G	1.788	-0.480274	0.04383	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.02015	4.73;4.5	4.89	2.68	0.31781	.	.	.	.	.	T	0.01421	0.0046	N	0.17674	0.51	0.09310	N	1	B;B	0.25667	0.131;0.131	B;B	0.28011	0.057;0.085	T	0.47018	-0.9149	9	0.06236	T	0.91	-8.2256	3.6209	0.08096	0.2047:0.0:0.5432:0.2521	.	925;925	E7ENV9;E7EX88	.;.	K	925	ENSP00000387356:R925K;ENSP00000341615:R925K	ENSP00000268134:R925K	R	+	2	0	ACAN	87199594	0.000000	0.05858	0.093000	0.20910	0.399000	0.30720	0.386000	0.20702	1.171000	0.42768	0.655000	0.94253	AGA		0.577	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2		NM_001135		15	32	0	0	0	1	0	15	32		
GDPGP1	390637	broad.mit.edu	37	15	90784743	90784743	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr15:90784743C>T	ENST00000558017.1	+	4	1023	c.603C>T	c.(601-603)ttC>ttT	p.F201F	GDPGP1_ENST00000329600.6_Silent_p.F201F	NM_001013657.2	NP_001013679.2	Q6ZNW5	GDPP1_HUMAN	GDP-D-glucose phosphorylase 1	201					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)										ACCCGGGCTTCCGTGTCGGCT	0.667																																						uc002bpc.2		NaN																	0					0						c.(601-603)TTC>TTT		hypothetical protein LOC390637							48.0	50.0	49.0					15																	90784743		2199	4298	6497	SO:0001819	synonymous_variant	390637				glucose metabolic process	cytoplasm	GDP-D-glucose phosphorylase activity	g.chr15:90784743C>T		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.603C>T	15.37:g.90784743C>T							p.F201F	NM_001013657	NP_001013679	Q6ZNW5	VTC2_HUMAN			4	782	+			201						Silent	SNP	ENST00000558017.1	37	c.603C>T	CCDS32327.1																																																																																				0.667	GDPGP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416973.1		NM_001013657		12	25	0	0	0	1	0	12	25		
PCSK6	5046	broad.mit.edu	37	15	101872078	101872078	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr15:101872078C>A	ENST00000348070.1	-	15	2013	c.2014G>T	c.(2014-2016)Gaa>Taa	p.E672*	RP11-299G20.3_ENST00000558696.1_RNA|PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000358417.3_Nonsense_Mutation_p.E672*	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	673					determination of left/right symmetry (GO:0007368)|glycoprotein metabolic process (GO:0009100)|nerve growth factor processing (GO:0032455)|nerve growth factor production (GO:0032902)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|regulation of BMP signaling pathway (GO:0030510)|secretion by cell (GO:0032940)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|nerve growth factor binding (GO:0048406)|serine-type endopeptidase activity (GO:0004252)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TCCTCATCTTCAGGAACTTCC	0.557																																						uc002bwy.2		NaN																	0				pancreas(2)	2						c.(2017-2019)GAA>TAA		paired basic amino acid cleaving system 4							57.0	59.0	58.0					15																	101872078		1952	4153	6105	SO:0001587	stop_gained	5046				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity	g.chr15:101872078C>A		CCDS73789.1, CCDS73790.1, CCDS73791.1, CCDS73792.1, CCDS73793.1	15q26	2008-07-18	2004-06-14	2004-06-16		ENSG00000140479			8569	protein-coding gene	gene with protein product	"""subtilisin-like protease"", ""subtilisin-like proprotein convertase 4"", ""subtilisin/kexin-like protease PACE4"""	167405	"""paired basic amino acid cleaving system 4"""	PACE4		1741956	Standard	NM_002570		Approved	SPC4	uc002bwy.3	P29122		ENST00000348070.1:c.2014G>T	15.37:g.101872078C>A	ENSP00000305056:p.Glu672*					PCSK6_uc010bpd.2_Nonsense_Mutation_p.E469*|PCSK6_uc010bpe.2_Nonsense_Mutation_p.E673*|PCSK6_uc002bxa.2_Nonsense_Mutation_p.E673*|PCSK6_uc002bxb.2_Nonsense_Mutation_p.E673*	p.E673*	NM_002570	NP_002561	P29122	PCSK6_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		15	2331	-	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		673					Q15099|Q15100|Q9UEG7|Q9UEJ1|Q9UEJ2|Q9UEJ7|Q9UEJ8|Q9UEJ9|Q9Y4G9|Q9Y4H0|Q9Y4H1	Nonsense_Mutation	SNP	ENST00000348070.1	37	c.2017G>T		.	.	.	.	.	.	.	.	.	.	C	37	6.403422	0.97537	.	.	ENSG00000140479	ENST00000348070;ENST00000358417;ENST00000398185	.	.	.	5.82	5.82	0.92795	.	0.727245	0.11931	N	0.515725	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	-45.0929	17.5867	0.87983	0.0:1.0:0.0:0.0	.	.	.	.	X	672;672;503	.	ENSP00000305056:E672X	E	-	1	0	PCSK6	99689601	1.000000	0.71417	0.952000	0.39060	0.526000	0.34562	5.485000	0.66850	2.744000	0.94065	0.650000	0.86243	GAA		0.557	PCSK6-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding			NM_002570		4	46	1	0	0.014758	1	0.0148163	4	46		
RHBDF1	64285	broad.mit.edu	37	16	111597	111597	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr16:111597C>T	ENST00000262316.6	-	9	1448	c.1306G>A	c.(1306-1308)Gag>Aag	p.E436K	RHBDF1_ENST00000454039.2_Missense_Mutation_p.E436K	NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)	436					cell migration (GO:0016477)|cell proliferation (GO:0008283)|negative regulation of protein secretion (GO:0050709)|protein transport (GO:0015031)|proteolysis (GO:0006508)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of protein secretion (GO:0050708)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				TCCACCGTCTCATGCTGCGAG	0.657																																						uc002cfl.3		NaN																	0				ovary(1)|pancreas(1)	2						c.(1306-1308)GAG>AAG		rhomboid family 1							69.0	63.0	65.0					16																	111597		2203	4300	6503	SO:0001583	missense	64285				cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity	g.chr16:111597C>T	BC014425	CCDS32344.1	16p13.3	2008-02-05	2006-02-22		ENSG00000007384	ENSG00000007384			20561	protein-coding gene	gene with protein product		614403	"""chromosome 16 open reading frame 8"", ""rhomboid family 1 (Drosophila)"""	C16orf8		8318735, 15965977	Standard	NM_022450		Approved	EGFR-RS, FLJ2235, Dist1	uc002cfl.4	Q96CC6	OTTHUMG00000060719	ENST00000262316.6:c.1306G>A	16.37:g.111597C>T	ENSP00000262316:p.Glu436Lys					RHBDF1_uc010uty.1_Missense_Mutation_p.E459K|RHBDF1_uc010utz.1_Missense_Mutation_p.E436K|RHBDF1_uc010bqo.1_RNA	p.E436K	NM_022450	NP_071895	Q96CC6	RHDF1_HUMAN			12	1454	-		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)	436			Lumenal (Potential).		Q04842|Q1W6H2|Q4TT59|Q96S34|Q9H6E1	Missense_Mutation	SNP	ENST00000262316.6	37	c.1306G>A	CCDS32344.1	.	.	.	.	.	.	.	.	.	.	.	24.8	4.573911	0.86542	.	.	ENSG00000007384	ENST00000262316;ENST00000454039	T;T	0.66280	0.69;-0.2	4.43	4.43	0.53597	.	0.000000	0.85682	D	0.000000	T	0.72463	0.3463	L	0.50333	1.59	0.80722	D	1	D;D;B	0.76494	0.998;0.999;0.255	D;D;B	0.80764	0.994;0.993;0.048	T	0.67492	-0.5657	10	0.21014	T	0.42	-38.5395	16.5704	0.84611	0.0:1.0:0.0:0.0	.	436;459;436	F5GWL4;B4E3Q0;Q96CC6	.;.;RHDF1_HUMAN	K	436	ENSP00000262316:E436K;ENSP00000392133:E436K	ENSP00000262316:E436K	E	-	1	0	RHBDF1	51597	1.000000	0.71417	0.860000	0.33809	0.947000	0.59692	4.414000	0.59802	2.448000	0.82819	0.462000	0.41574	GAG		0.657	RHBDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134178.2		NM_022450		28	49	0	0	0	1	0	28	49		
HBQ1	3049	broad.mit.edu	37	16	230775	230776	+	Missense_Mutation	DNP	TC	TC	AA			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr16:230775_230776TC>AA	ENST00000199708.2	+	2	240_241	c.206_207TC>AA	c.(205-207)cTC>cAA	p.L69Q	Y_RNA_ENST00000384514.1_RNA	NM_005331.4	NP_005322.1	P09105	HBAT_HUMAN	hemoglobin, theta 1	69					oxygen transport (GO:0015671)	hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)			large_intestine(1)	1		all_cancers(16;2.03e-06)|all_epithelial(16;5.16e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0138)|all_lung(18;0.0306)				GCGCTGAGCCTCGCCGTGGAGC	0.698																																						uc002cfz.2		NaN																	0					0						c.(205-207)CTC>CAA		theta 1 globin																																				SO:0001583	missense	3049					hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity	g.chr16:230775_230776TC>AA	BC056686	CCDS10400.1	16p13.3	2014-05-19			ENSG00000086506	ENSG00000086506			4833	protein-coding gene	gene with protein product		142240				2649166	Standard	NM_005331		Approved	HBQ	uc002cfz.3	P09105	OTTHUMG00000060727	Exception_encountered	16.37:g.230775_230776delinsAA	ENSP00000199708:p.Leu69Gln						p.L69Q	NM_005331	NP_005322	P09105	HBAT_HUMAN			2	357_358	+		all_cancers(16;2.03e-06)|all_epithelial(16;5.16e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0138)|all_lung(18;0.0306)	69					Q13723|Q1W6G5	Missense_Mutation	DNP	ENST00000199708.2	37	c.206_207TC>AA	CCDS10400.1																																																																																				0.698	HBQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134226.1		NM_005331		3	12	0	0	0	1	0	3	12		
PIGQ	9091	broad.mit.edu	37	16	632999	632999	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr16:632999C>T	ENST00000026218.5	+	10	1736	c.1648C>T	c.(1648-1650)Cta>Tta	p.L550L	PIGQ_ENST00000409527.2_Silent_p.I570I|PIGQ_ENST00000321878.5_Silent_p.I570I	NM_148920.2	NP_683721.1	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	550					C-terminal protein lipidation (GO:0006501)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of membrane (GO:0016021)	phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				GGGAGCTCATCTACCCCTGGA	0.672																																						uc002cho.2		NaN																	0				central_nervous_system(1)	1						c.(1648-1650)CTA>TTA		phosphatidylinositol glycan anchor biosynthesis,							60.0	62.0	61.0					16																	632999		2200	4300	6500	SO:0001819	synonymous_variant	9091				C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity	g.chr16:632999C>T	AB003723	CCDS10411.1, CCDS10412.1	16p13.3	2013-03-28	2006-06-28		ENSG00000007541	ENSG00000007541		"""Phosphatidylinositol glycan anchor biosynthesis"""	14135	protein-coding gene	gene with protein product		605754	"""phosphatidylinositol glycan, class Q"""			9463366, 9729469	Standard	NM_004204		Approved	hGPI1, GPI1	uc002cho.3	Q9BRB3	OTTHUMG00000168047	ENST00000026218.5:c.1648C>T	16.37:g.632999C>T						PIGQ_uc010bqw.2_Silent_p.I570I|PIGQ_uc002chn.2_Silent_p.I570I|PIGQ_uc010uui.1_3'UTR|PIGQ_uc002chp.2_Silent_p.L120L|uc010uuj.1_3'UTR	p.L550L	NM_148920	NP_683721	Q9BRB3	PIGQ_HUMAN			10	1750	+		Hepatocellular(780;0.00335)	550					A2IDE1|D3DU52|O14927|Q96G00|Q96S22|Q9UJH4	Silent	SNP	ENST00000026218.5	37	c.1648C>T	CCDS10411.1																																																																																				0.672	PIGQ-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000239270.2		NM_004204		57	72	0	0	0	1	0	57	72		
FAM195A	84331	broad.mit.edu	37	16	697470	697470	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr16:697470C>T	ENST00000307650.4	+	3	415	c.236C>T	c.(235-237)aCg>aTg	p.T79M	WDR90_ENST00000293879.4_5'Flank|WDR90_ENST00000549091.1_5'Flank|AL022341.3_ENST00000455294.1_RNA	NM_138418.2	NP_612427.2	Q9BUT9	F195A_HUMAN	family with sequence similarity 195, member A	79										haematopoietic_and_lymphoid_tissue(1)|kidney(1)	2						GCCCCCTCCACGTCCCCATCC	0.647																																						uc002cic.1		NaN																	0					0						c.(235-237)ACG>ATG		hypothetical protein LOC84331							68.0	63.0	64.0					16																	697470		2199	4299	6498	SO:0001583	missense	84331							g.chr16:697470C>T	BC001912	CCDS10415.1	16p13.3	2009-09-10	2009-09-10	2009-09-10	ENSG00000172366	ENSG00000172366			14142	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 14"""	C16orf14		12477932	Standard	NM_138418		Approved	MGC15416	uc002cic.1	Q9BUT9	OTTHUMG00000048042	ENST00000307650.4:c.236C>T	16.37:g.697470C>T	ENSP00000305138:p.Thr79Met					FAM195A_uc002cid.1_Intron|FAM195A_uc002cie.2_Missense_Mutation_p.R8C|FAM195A_uc002cif.1_RNA|WDR90_uc002cig.1_5'Flank|WDR90_uc002cih.1_5'Flank|WDR90_uc002cii.1_5'Flank|WDR90_uc002cij.1_5'Flank	p.T79M	NM_138418	NP_612427	Q9BUT9	F195A_HUMAN			3	379	+			79					Q969E9|Q96KV8	Missense_Mutation	SNP	ENST00000307650.4	37	c.236C>T	CCDS10415.1	.	.	.	.	.	.	.	.	.	.	C	7.142	0.582019	0.13749	.	.	ENSG00000172366	ENST00000307650;ENST00000537787	.	.	.	4.18	3.21	0.36854	.	0.720305	0.13756	N	0.364965	T	0.53562	0.1804	L	0.52573	1.65	0.80722	D	1	B	0.21905	0.062	B	0.16289	0.015	T	0.57429	-0.7813	9	0.59425	D	0.04	-10.0545	8.6853	0.34234	0.0:0.8933:0.0:0.1067	.	79	Q9BUT9	F195A_HUMAN	M	79	.	ENSP00000305138:T79M	T	+	2	0	FAM195A	637471	0.013000	0.17824	0.658000	0.29665	0.595000	0.36748	0.378000	0.20569	1.869000	0.54173	0.561000	0.74099	ACG		0.647	FAM195A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109347.2		NM_138418		20	14	0	0	0	1	0	20	14		
PKD1	5310	broad.mit.edu	37	16	2153270	2153270	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr16:2153270C>A	ENST00000262304.4	-	23	8996	c.8788G>T	c.(8788-8790)Gac>Tac	p.D2930Y	PKD1_ENST00000561991.1_5'Flank|PKD1_ENST00000423118.1_Missense_Mutation_p.D2930Y	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2930					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						CACGCACCGTCCAGCAGCGTA	0.647																																						uc002cos.1		NaN																	0				central_nervous_system(2)|skin(1)	3						c.(8788-8790)GAC>TAC		polycystin 1 isoform 1 precursor							16.0	20.0	18.0					16																	2153270		2162	4254	6416	SO:0001583	missense	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.chr16:2153270C>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.8788G>T	16.37:g.2153270C>A	ENSP00000262304:p.Asp2930Tyr					PKD1_uc002cot.1_Missense_Mutation_p.D2930Y|PKD1_uc010bse.1_RNA	p.D2930Y	NM_001009944	NP_001009944	P98161	PKD1_HUMAN			23	8997	-			2930			Extracellular (Potential).		Q15140|Q15141	Missense_Mutation	SNP	ENST00000262304.4	37	c.8788G>T	CCDS32369.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	2.446|2.446	-0.327390|-0.327390	0.05350|0.05350	.|.	.|.	ENSG00000008710|ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101|ENST00000382481	T;T|.	0.70986|.	-0.53;-0.53|.	4.89|4.89	-2.57|-2.57	0.06248|0.06248	.|.	1.641980|.	0.03474|.	N|.	0.214159|.	T|T	0.41673|0.41673	0.1169|0.1169	L|L	0.46157|0.46157	1.445|1.445	0.09310|0.09310	N|N	1|1	D;D|.	0.61080|.	0.989;0.966|.	P;P|.	0.53809|.	0.735;0.641|.	T|T	0.51020|0.51020	-0.8758|-0.8758	10|6	0.12430|0.87932	T|D	0.62|0	.|.	10.8687|10.8687	0.46870|0.46870	0.0:0.3466:0.0:0.6534|0.0:0.3466:0.0:0.6534	.|.	2930;2930|.	P98161-3;P98161|.	.;PKD1_HUMAN|.	Y|C	2930;2930;2265|1167	ENSP00000262304:D2930Y;ENSP00000399501:D2930Y|.	ENSP00000262304:D2930Y|ENSP00000371921:W1167C	D|W	-|-	1|3	0|0	PKD1|PKD1	2093271|2093271	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.020000|0.020000	0.10135|0.10135	-0.328000|-0.328000	0.07945|0.07945	-0.275000|-0.275000	0.09219|0.09219	-0.266000|-0.266000	0.10368|0.10368	GAC|TGG		0.647	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1				25	12	1	0	1.85244e-09	1	1.9727e-09	25	12		
PKD1	5310	broad.mit.edu	37	16	2153839	2153839	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr16:2153839C>T	ENST00000262304.4	-	23	8427	c.8219G>A	c.(8218-8220)gGa>gAa	p.G2740E	PKD1_ENST00000561991.1_5'UTR|PKD1_ENST00000423118.1_Missense_Mutation_p.G2740E	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2740	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				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						TGACTCGGCTCCCAGCTCTGA	0.647																																						uc002cos.1		NaN																	0				central_nervous_system(2)|skin(1)	3						c.(8218-8220)GGA>GAA		polycystin 1 isoform 1 precursor							17.0	17.0	17.0					16																	2153839		2172	4271	6443	SO:0001583	missense	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.chr16:2153839C>T	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.8219G>A	16.37:g.2153839C>T	ENSP00000262304:p.Gly2740Glu					PKD1_uc002cot.1_Missense_Mutation_p.G2740E|PKD1_uc010bse.1_RNA	p.G2740E	NM_001009944	NP_001009944	P98161	PKD1_HUMAN			23	8428	-			2740			Extracellular (Potential).|REJ.		Q15140|Q15141	Missense_Mutation	SNP	ENST00000262304.4	37	c.8219G>A	CCDS32369.1	.	.	.	.	.	.	.	.	.	.	C	11.06	1.526696	0.27299	.	.	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101;ENST00000382481	T;T	0.34472	1.36;1.36	4.41	4.41	0.53225	Egg jelly receptor, REJ-like (1);	0.791890	0.11741	N	0.534033	T	0.45074	0.1324	L	0.41236	1.265	0.26103	N	0.980787	D;B	0.60575	0.988;0.126	P;B	0.60789	0.879;0.035	T	0.22208	-1.0223	10	0.13853	T	0.58	.	13.2348	0.59963	0.1696:0.8304:0.0:0.0	.	2740;2740	P98161-3;P98161	.;PKD1_HUMAN	E	2740;2740;2075;1019	ENSP00000262304:G2740E;ENSP00000399501:G2740E	ENSP00000262304:G2740E	G	-	2	0	PKD1	2093840	0.850000	0.29656	0.057000	0.19452	0.013000	0.08279	2.158000	0.42329	2.273000	0.75805	0.484000	0.47621	GGA		0.647	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1				13	4	0	0	0	1	0	13	4		
MMP25	64386	broad.mit.edu	37	16	3100351	3100351	+	Silent	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr16:3100351C>G	ENST00000336577.4	+	4	702	c.465C>G	c.(463-465)ctC>ctG	p.L155L	RP11-473M20.7_ENST00000576250.1_RNA|MMP25_ENST00000570755.1_3'UTR	NM_022468.4	NP_071913.1	Q9H239	MMP28_HUMAN	matrix metallopeptidase 25	168					negative regulation of macrophage chemotaxis (GO:0010760)	cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	14					Marimastat(DB00786)	AGTCAGGCCTCACATTTCATG	0.637																																					NSCLC(147;665 1067 3888 6863 19894 30469 40247 45633 51336)	uc002cth.2		NaN																	0					0						c.(463-465)CTC>CTG		matrix metalloproteinase 25 preproprotein							57.0	51.0	53.0					16																	3100351		2197	4300	6497	SO:0001819	synonymous_variant	64386				inflammatory response|proteolysis	anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr16:3100351C>G	AF145442	CCDS10492.1	16p13.3	2008-02-05	2005-08-08			ENSG00000008516			14246	protein-coding gene	gene with protein product		608482	"""matrix metalloproteinase 25"", ""matrix metallopeptidase-like 1"""	MMPL1, MMP20		10628838, 10706098	Standard	NM_022468		Approved	MT6-MMP	uc002cth.3	Q9NPA2		ENST00000336577.4:c.465C>G	16.37:g.3100351C>G						MMP25_uc002cti.1_Silent_p.L91L	p.L155L	NM_022468	NP_071913	Q9NPA2	MMP25_HUMAN			4	702	+			155					Q96F04|Q96TE2	Silent	SNP	ENST00000336577.4	37	c.465C>G	CCDS10492.1																																																																																				0.637	MMP25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437116.1		NM_022468		15	35	0	0	0	1	0	15	35		
TXNDC11	51061	broad.mit.edu	37	16	11773080	11773080	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr16:11773080C>G	ENST00000356957.3	-	13	3036	c.2929G>C	c.(2929-2931)Gaa>Caa	p.E977Q	TXNDC11_ENST00000570917.1_5'UTR|TXNDC11_ENST00000283033.5_Missense_Mutation_p.E950Q			Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	977					cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)			endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						TTATTCCTTTCAGACACCAGT	0.478																																						uc010buu.1		NaN																	0					0						c.(2929-2931)GAA>CAA		thioredoxin domain containing 11							37.0	40.0	39.0					16																	11773080		2197	4300	6497	SO:0001583	missense	51061				cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane		g.chr16:11773080C>G	BC013727	CCDS32387.1	16p13.13	2008-09-29				ENSG00000153066			28030	protein-coding gene	gene with protein product	"""EF-hand binding protein 1"""					8619474, 9110174	Standard	XM_005255346		Approved	EFP1	uc002dbg.1	Q6PKC3		ENST00000356957.3:c.2929G>C	16.37:g.11773080C>G	ENSP00000349439:p.Glu977Gln					TXNDC11_uc002dbg.1_Missense_Mutation_p.E950Q	p.E977Q	NM_015914	NP_056998	Q6PKC3	TXD11_HUMAN			13	2991	-			977					O95887|Q6PJA6|Q8N2Q4|Q96K45|Q96K53	Missense_Mutation	SNP	ENST00000356957.3	37	c.2929G>C		.	.	.	.	.	.	.	.	.	.	C	13.20	2.165129	0.38217	.	.	ENSG00000153066	ENST00000356957;ENST00000283033	T;T	0.20598	2.3;2.06	5.63	4.68	0.58851	.	0.119152	0.56097	D	0.000035	T	0.30070	0.0753	L	0.29908	0.895	0.43214	D	0.995081	D;D	0.67145	0.993;0.996	P;P	0.59357	0.782;0.856	T	0.05007	-1.0912	10	0.72032	D	0.01	-10.1375	13.6218	0.62140	0.0:0.9264:0.0:0.0736	.	977;950	Q6PKC3;Q6PKC3-2	TXD11_HUMAN;.	Q	977;950	ENSP00000349439:E977Q;ENSP00000283033:E950Q	ENSP00000283033:E950Q	E	-	1	0	TXNDC11	11680581	0.986000	0.35501	0.054000	0.19295	0.004000	0.04260	2.805000	0.47939	1.390000	0.46547	-0.136000	0.14681	GAA		0.478	TXNDC11-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000437057.1		NM_015914		14	44	0	0	0	1	0	14	44		
NOMO3	408050	broad.mit.edu	37	16	16349968	16349968	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr16:16349968C>T	ENST00000399336.4	+	11	1345	c.1173C>T	c.(1171-1173)atC>atT	p.I391I	NOMO3_ENST00000263012.6_Silent_p.I391I|NOMO3_ENST00000538468.1_Silent_p.I224I	NM_001004067.3	NP_001004067.1	P69849	NOMO3_HUMAN	NODAL modulator 3	391						integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	8				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		CGGTCACCATCAAAATTGCAC	0.468																																						uc002deq.2		NaN																	0					0						c.(1171-1173)ATC>ATT		nodal modulator 3 precursor							169.0	200.0	189.0					16																	16349968		2109	4295	6404	SO:0001819	synonymous_variant	408050					integral to membrane	carbohydrate binding|carboxypeptidase activity	g.chr16:16349968C>T	AK125530	CCDS42123.1	16p13	2004-11-24				ENSG00000103226			25242	protein-coding gene	gene with protein product		609159				15257293	Standard	NM_001004067		Approved		uc002deq.3	P69849	OTTHUMG00000170525	ENST00000399336.4:c.1173C>T	16.37:g.16349968C>T						NOMO3_uc002dep.2_Silent_p.I391I|NOMO3_uc010bvp.1_Silent_p.I224I	p.I391I	NM_001004067	NP_001004067	P69849	NOMO3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	11	1308	+			391			Extracellular (Potential).			Silent	SNP	ENST00000399336.4	37	c.1173C>T	CCDS42123.1																																																																																				0.468	NOMO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409528.13		NM_001004067		40	119	0	0	0	1	0	40	119		
DNAH3	55567	broad.mit.edu	37	16	20998710	20998710	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr16:20998710G>C	ENST00000261383.3	-	47	6942	c.6943C>G	c.(6943-6945)Ctg>Gtg	p.L2315V	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2315					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TTGTCAATCAGACGATCATAG	0.413																																						uc010vbe.1		NaN																	0				ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18						c.(6943-6945)CTG>GTG		dynein, axonemal, heavy chain 3							125.0	119.0	121.0					16																	20998710		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:20998710G>C	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.6943C>G	16.37:g.20998710G>C	ENSP00000261383:p.Leu2315Val					DNAH3_uc010vbd.1_5'Flank	p.L2315V	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	47	6943	-			2315					O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.6943C>G	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	G	18.95	3.730782	0.69074	.	.	ENSG00000158486	ENST00000261383	T	0.44482	0.92	5.75	3.61	0.41365	.	0.089276	0.46758	D	0.000273	T	0.70334	0.3212	H	0.98594	4.275	0.80722	D	1	D	0.76494	0.999	D	0.63113	0.911	T	0.73720	-0.3894	10	0.87932	D	0	.	4.2545	0.10710	0.4499:0.0:0.5501:0.0	.	2315	Q8TD57	DYH3_HUMAN	V	2315	ENSP00000261383:L2315V	ENSP00000261383:L2315V	L	-	1	2	DNAH3	20906211	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	4.020000	0.57189	1.446000	0.47643	0.585000	0.79938	CTG		0.413	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1		NM_017539		42	75	0	0	0	1	0	42	75		
DNAH3	55567	broad.mit.edu	37	16	21065842	21065842	+	Missense_Mutation	SNP	T	T	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr16:21065842T>A	ENST00000261383.3	-	28	3937	c.3938A>T	c.(3937-3939)aAg>aTg	p.K1313M	DNAH3_ENST00000415178.1_Missense_Mutation_p.K1313M	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1313	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ATCATTGCTCTTTTTCAGAAA	0.537																																						uc010vbe.1		NaN																	0				ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18						c.(3937-3939)AAG>ATG		dynein, axonemal, heavy chain 3							66.0	55.0	59.0					16																	21065842		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21065842T>A	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.3938A>T	16.37:g.21065842T>A	ENSP00000261383:p.Lys1313Met						p.K1313M	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	28	3938	-			1313			Stem (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.3938A>T	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	T	19.32	3.804086	0.70682	.	.	ENSG00000158486	ENST00000261383;ENST00000415178	T;T	0.60171	0.21;0.21	5.78	5.78	0.91487	.	0.201120	0.40728	N	0.001032	T	0.74137	0.3677	M	0.84219	2.685	0.80722	D	1	D	0.56035	0.974	P	0.55999	0.789	T	0.78458	-0.2196	10	0.66056	D	0.02	.	16.4053	0.83662	0.0:0.0:0.0:1.0	.	1313	Q8TD57	DYH3_HUMAN	M	1313	ENSP00000261383:K1313M;ENSP00000394245:K1313M	ENSP00000261383:K1313M	K	-	2	0	DNAH3	20973343	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.665000	0.83852	2.333000	0.79357	0.482000	0.46254	AAG		0.537	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1		NM_017539		9	30	0	0	0	1	0	9	30		
IL21R	50615	broad.mit.edu	37	16	27456025	27456025	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr16:27456025C>A	ENST00000337929.3	+	6	1143	c.670C>A	c.(670-672)Cag>Aag	p.Q224K	IL21R_ENST00000564583.1_3'UTR|IL21R_ENST00000564089.1_Missense_Mutation_p.Q224K|IL21R_ENST00000395755.1_Missense_Mutation_p.Q224K|IL21R-AS1_ENST00000563191.1_RNA|IL21R_ENST00000395754.4_Missense_Mutation_p.Q224K	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	224	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				interleukin-21-mediated signaling pathway (GO:0038114)|natural killer cell activation (GO:0030101)	integral component of membrane (GO:0016021)	interleukin-21 receptor activity (GO:0001532)			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						GGTCATCTTTCAGACCCAGTC	0.582			T	BCL6	NHL																																	uc002doq.1		NaN		Dom	yes		16	16p11	50615	T	interleukin 21 receptor			L	BCL6		NHL		0				ovary(2)|lung(1)|breast(1)	4						c.(670-672)CAG>AAG		interleukin 21 receptor precursor							65.0	62.0	63.0					16																	27456025		2197	4300	6497	SO:0001583	missense	50615				natural killer cell activation	integral to membrane	interleukin-21 receptor activity	g.chr16:27456025C>A	AF254067	CCDS10630.1	16p11	2014-09-17			ENSG00000103522	ENSG00000103522		"""Interleukins and interleukin receptors"", ""CD molecules"""	6006	protein-coding gene	gene with protein product		605383				11081504	Standard	NM_181078		Approved	CD360	uc002dos.2	Q9HBE5	OTTHUMG00000131675	ENST00000337929.3:c.670C>A	16.37:g.27456025C>A	ENSP00000338010:p.Gln224Lys					IL21R_uc002dor.1_Missense_Mutation_p.Q224K|IL21R_uc002dos.1_Missense_Mutation_p.Q224K	p.Q224K	NM_181078	NP_851564	Q9HBE5	IL21R_HUMAN			6	903	+			224			Extracellular (Potential).		A8K9E8|D3DWF7|Q96HZ1|Q9HB91	Missense_Mutation	SNP	ENST00000337929.3	37	c.670C>A	CCDS10630.1	.	.	.	.	.	.	.	.	.	.	C	6.121	0.390506	0.11581	.	.	ENSG00000103522	ENST00000337929;ENST00000395755;ENST00000395754	T;T;T	0.68025	-0.3;-0.3;-0.3	4.3	1.36	0.22044	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.828681	0.11116	N	0.597986	T	0.43456	0.1248	L	0.29908	0.895	0.26071	N	0.98121	B	0.12013	0.005	B	0.11329	0.006	T	0.42378	-0.9455	10	0.02654	T	1	-9.7953	3.9531	0.09377	0.3445:0.5323:0.0:0.1232	.	224	Q9HBE5	IL21R_HUMAN	K	224	ENSP00000338010:Q224K;ENSP00000379104:Q224K;ENSP00000379103:Q224K	ENSP00000338010:Q224K	Q	+	1	0	IL21R	27363526	0.005000	0.15991	1.000000	0.80357	0.917000	0.54804	-0.107000	0.10873	1.936000	0.56123	0.561000	0.74099	CAG		0.582	IL21R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254578.2		NM_181078		11	40	1	0	0.000673444	1	0.000684208	11	40		
PRRT2	112476	broad.mit.edu	37	16	29824976	29824976	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr16:29824976C>T	ENST00000358758.7	+	2	884	c.601C>T	c.(601-603)Cac>Tac	p.H201Y	PAGR1_ENST00000609618.1_5'Flank|PRRT2_ENST00000567659.1_Missense_Mutation_p.H201Y|PRRT2_ENST00000567551.1_Intron|PAGR1_ENST00000320330.6_5'Flank|PRRT2_ENST00000300797.6_Missense_Mutation_p.H201Y|AC009133.14_ENST00000569981.1_RNA|AC009133.20_ENST00000569039.1_RNA	NM_001256442.1|NM_001256443.1|NM_145239.2	NP_001243371.1|NP_001243372.1|NP_660282.2	Q7Z6L0	PRRT2_HUMAN	proline-rich transmembrane protein 2	201	Pro-rich.				neuromuscular process controlling posture (GO:0050884)|response to biotic stimulus (GO:0009607)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.H201N(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	8						CCCTGAGCCTCACTCACCACC	0.612																																						uc002due.3		NaN																	1	Substitution - Missense(1)		lung(1)		0						c.(601-603)CAC>TAC		proline-rich transmembrane protein 2							16.0	17.0	17.0					16																	29824976		2188	4290	6478	SO:0001583	missense	112476				response to biotic stimulus	integral to membrane		g.chr16:29824976C>T	BC011405	CCDS10654.1, CCDS58445.1, CCDS58446.1	16p11.2	2014-02-03			ENSG00000167371	ENSG00000167371		"""Proline-rich transmembrane proteins"""	30500	protein-coding gene	gene with protein product	"""interferon induced transmembrane protein domain containing 1"""	614386	"""infantile convulsions and paroxysmal choreoathetosis"""	ICCA		22101681, 22243967	Standard	NM_145239		Approved	FLJ25513, DKFZp547J199, IFITMD1, FICCA	uc002dud.3	Q7Z6L0	OTTHUMG00000177142	ENST00000358758.7:c.601C>T	16.37:g.29824976C>T	ENSP00000351608:p.His201Tyr					uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|uc002duc.1_5'Flank|PRRT2_uc002dud.2_Missense_Mutation_p.H201Y|PRRT2_uc002duf.1_Missense_Mutation_p.H201Y|C16orf53_uc002dug.3_5'Flank	p.H201Y	NM_145239	NP_660282	Q7Z6L0	PRRT2_HUMAN			2	902	+			201			Extracellular (Potential).|Pro-rich.		A8K8M8|Q8N2N8|Q8NAQ7|Q8ND36|Q96FA8	Missense_Mutation	SNP	ENST00000358758.7	37	c.601C>T	CCDS10654.1	.	.	.	.	.	.	.	.	.	.	C	13.38	2.218853	0.39201	.	.	ENSG00000167371	ENST00000358758;ENST00000300797	T;T	0.70749	-0.51;0.44	3.9	3.9	0.45041	.	0.379438	0.22529	N	0.058875	T	0.73297	0.3569	N	0.24115	0.695	0.31585	N	0.654629	D;D;D	0.76494	0.999;0.993;0.996	D;D;D	0.80764	0.994;0.968;0.986	T	0.75616	-0.3256	10	0.51188	T	0.08	-8.4052	13.7948	0.63164	0.0:1.0:0.0:0.0	.	201;201;201	Q7Z6L0-3;Q7Z6L0;Q7Z6L0-2	.;PRRT2_HUMAN;.	Y	201	ENSP00000351608:H201Y;ENSP00000300797:H201Y	ENSP00000300797:H201Y	H	+	1	0	PRRT2	29732477	0.029000	0.19370	0.993000	0.49108	0.404000	0.30871	2.261000	0.43276	2.190000	0.69967	0.563000	0.77884	CAC		0.612	PRRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255161.3		NM_145239		7	11	0	0	0	1	0	7	11		
PPP4C	5531	broad.mit.edu	37	16	30096314	30096314	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr16:30096314C>G	ENST00000279387.7	+	9	1023	c.855C>G	c.(853-855)atC>atG	p.I285M	PPP4C_ENST00000561610.1_Missense_Mutation_p.I285M	NM_002720.1	NP_002711.1	P60510	PP4C_HUMAN	protein phosphatase 4, catalytic subunit	285					dephosphorylation (GO:0016311)|NIK/NF-kappaB signaling (GO:0038061)|regulation of double-strand break repair via homologous recombination (GO:0010569)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein phosphatase 4 complex (GO:0030289)	metal ion binding (GO:0046872)|NF-kappaB-inducing kinase activity (GO:0004704)|protein serine/threonine phosphatase activity (GO:0004722)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(2)|pancreas(1)|skin(1)|urinary_tract(1)	9						ATTTCATCATCTTTGAGGCTG	0.627																																						uc002dwe.2		NaN																	0				skin(1)	1						c.(853-855)ATC>ATG		protein phosphatase 4, catalytic subunit							74.0	81.0	79.0					16																	30096314		2197	4300	6497	SO:0001583	missense	5531				microtubule cytoskeleton organization|regulation of double-strand break repair via homologous recombination	centrosome|nucleus	metal ion binding|NF-kappaB-inducing kinase activity|protein binding|protein serine/threonine phosphatase activity	g.chr16:30096314C>G		CCDS10669.1	16p11.2	2010-03-17	2010-03-05		ENSG00000149923	ENSG00000149923	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9319	protein-coding gene	gene with protein product	"""protein phosphatase X, catalytic subunit"""	602035	"""protein phosphatase 4 (formerly X), catalytic subunit"""			9177794	Standard	NM_002720		Approved	PP4, PPX	uc002dwf.3	P60510	OTTHUMG00000132113	ENST00000279387.7:c.855C>G	16.37:g.30096314C>G	ENSP00000279387:p.Ile285Met					uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|PPP4C_uc002dwf.2_Missense_Mutation_p.I285M|PPP4C_uc002dwg.2_RNA|PPP4C_uc002dwh.2_Missense_Mutation_p.I206M	p.I285M	NM_002720	NP_002711	P60510	PP4C_HUMAN			9	999	+			285					P33172	Missense_Mutation	SNP	ENST00000279387.7	37	c.855C>G	CCDS10669.1	.	.	.	.	.	.	.	.	.	.	C	13.47	2.245897	0.39697	.	.	ENSG00000149923	ENST00000279387	T	0.05996	3.36	5.89	3.9	0.45041	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (1);	0.181468	0.56097	D	0.000029	T	0.08537	0.0212	M	0.74881	2.28	0.58432	D	0.999999	B	0.26708	0.157	B	0.22601	0.04	T	0.09015	-1.0694	10	0.51188	T	0.08	-39.2593	5.368	0.16125	0.1589:0.6632:0.0:0.1778	.	285	P60510	PP4C_HUMAN	M	285	ENSP00000279387:I285M	ENSP00000279387:I285M	I	+	3	3	PPP4C	30003815	0.980000	0.34600	0.998000	0.56505	0.994000	0.84299	0.177000	0.16801	0.759000	0.33084	0.655000	0.94253	ATC		0.627	PPP4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255155.2		NM_002720		33	59	0	0	0	1	0	33	59		
ARMC5	79798	broad.mit.edu	37	16	31470893	31470893	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr16:31470893C>T	ENST00000563544.1	+	2	594	c.48C>T	c.(46-48)ctC>ctT	p.L16L	ARMC5_ENST00000457010.2_Silent_p.L16L|ARMC5_ENST00000408912.3_Silent_p.L111L|ARMC5_ENST00000412665.2_5'Flank|ARMC5_ENST00000268314.4_Silent_p.L16L|RP11-452L6.5_ENST00000564629.1_RNA|ARMC5_ENST00000538189.1_Silent_p.L48L			Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	16										central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						CGTTCTGCCTCGCGCAGCTCG	0.716																																						uc002ecc.2		NaN																	0				pancreas(1)	1						c.(46-48)CTC>CTT		armadillo repeat containing 5 isoform a							11.0	16.0	15.0					16																	31470893		1967	4141	6108	SO:0001819	synonymous_variant	79798						binding	g.chr16:31470893C>T	AY217348	CCDS42155.1, CCDS45472.1, CCDS73874.1	16p11	2013-02-14			ENSG00000140691	ENSG00000140691		"""Armadillo repeat containing"""	25781	protein-coding gene	gene with protein product		615549					Standard	NM_024742		Approved	FLJ13063	uc002ecc.3	Q96C12	OTTHUMG00000176618	ENST00000563544.1:c.48C>T	16.37:g.31470893C>T						ARMC5_uc010vfn.1_Silent_p.L111L|ARMC5_uc010vfo.1_Silent_p.L48L|ARMC5_uc002eca.3_Silent_p.L16L|ARMC5_uc010vfp.1_Silent_p.L16L|ARMC5_uc002ecb.2_Silent_p.L16L	p.L16L	NM_001105247	NP_001098717	Q96C12	ARMC5_HUMAN			1	577	+			16					Q86WM9|Q9H7P8|Q9H925	Silent	SNP	ENST00000563544.1	37	c.48C>T	CCDS45472.1																																																																																				0.716	ARMC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432847.1		NM_024742		5	8	0	0	0	1	0	5	8		
PHKB	5257	broad.mit.edu	37	16	47733202	47733202	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr16:47733202G>C	ENST00000323584.5	+	31	3231	c.3207G>C	c.(3205-3207)ttG>ttC	p.L1069F	PHKB_ENST00000455779.1_Missense_Mutation_p.L1062F|PHKB_ENST00000299167.8_Missense_Mutation_p.L1069F|PHKB_ENST00000566044.1_Missense_Mutation_p.L1062F	NM_000293.2	NP_000284.1	Q93100	KPBB_HUMAN	phosphorylase kinase, beta	1069					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				GCAGCTATTTGACAAAGGCGG	0.463																																						uc002eev.3		NaN																	0				ovary(1)|large_intestine(1)|breast(1)	3						c.(3205-3207)TTG>TTC		phosphorylase kinase, beta isoform a							183.0	164.0	171.0					16																	47733202		2201	4300	6501	SO:0001583	missense	5257				glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity	g.chr16:47733202G>C		CCDS10729.1, CCDS42161.1	16q12-q13	2009-07-10			ENSG00000102893	ENSG00000102893	2.7.11.19		8927	protein-coding gene	gene with protein product		172490					Standard	NM_000293		Approved		uc002eev.4	Q93100	OTTHUMG00000133102	ENST00000323584.5:c.3207G>C	16.37:g.47733202G>C	ENSP00000313504:p.Leu1069Phe					PHKB_uc002eeu.3_Missense_Mutation_p.L1062F|PHKB_uc002eew.3_Missense_Mutation_p.L310F	p.L1069F	NM_000293	NP_000284	Q93100	KPBB_HUMAN			31	3259	+		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)	1069					Q8N4T5	Missense_Mutation	SNP	ENST00000323584.5	37	c.3207G>C	CCDS10729.1	.	.	.	.	.	.	.	.	.	.	G	17.75	3.465640	0.63513	.	.	ENSG00000102893	ENST00000299167;ENST00000455779;ENST00000323584	D;D	0.94758	-3.51;-3.51	5.64	3.63	0.41609	.	0.309988	0.30235	N	0.010085	D	0.96234	0.8772	M	0.78049	2.395	0.80722	D	1	D;P;D	0.76494	0.999;0.952;0.999	D;P;D	0.69479	0.947;0.829;0.964	D	0.95117	0.8243	10	0.62326	D	0.03	-6.6682	8.7233	0.34454	0.1375:0.126:0.7365:0.0	.	310;1069;1062	B3KVX5;Q93100;Q93100-4	.;KPBB_HUMAN;.	F	1062;1062;1069	ENSP00000414345:L1062F;ENSP00000313504:L1069F	ENSP00000299167:L1062F	L	+	3	2	PHKB	46290703	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	2.833000	0.48159	0.707000	0.31934	0.650000	0.86243	TTG		0.463	PHKB-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000430413.1				26	90	0	0	0	1	0	26	90		
LONP2	83752	broad.mit.edu	37	16	48368170	48368170	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr16:48368170C>T	ENST00000285737.4	+	12	1932	c.1839C>T	c.(1837-1839)atC>atT	p.I613I	LONP2_ENST00000535754.1_Silent_p.I569I	NM_031490.2	NP_113678.2			lon peptidase 2, peroxisomal											breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						CTGAATCTATCAGTGACACTA	0.393																																						uc002efi.1		NaN																	0					0						c.(1837-1839)ATC>ATT		peroxisomal LON protease-like							144.0	133.0	137.0					16																	48368170		2200	4300	6500	SO:0001819	synonymous_variant	83752				misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity	g.chr16:48368170C>T	AJ548761	CCDS10734.1, CCDS73880.1	16q12.1	2010-04-21			ENSG00000102910	ENSG00000102910		"""ATPases / AAA-type"""	20598	protein-coding gene	gene with protein product						14561759	Standard	XM_005256191		Approved	MGC4840, LONP, LONPL	uc002efi.1	Q86WA8	OTTHUMG00000133144	ENST00000285737.4:c.1839C>T	16.37:g.48368170C>T						LONP2_uc010vgm.1_RNA|LONP2_uc002efj.1_Silent_p.I569I	p.I613I	NM_031490	NP_113678	Q86WA8	LONP2_HUMAN			12	1928	+			613						Silent	SNP	ENST00000285737.4	37	c.1839C>T	CCDS10734.1																																																																																				0.393	LONP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256839.2		NM_031490		24	77	0	0	0	1	0	24	77		
SALL1	6299	broad.mit.edu	37	16	51175982	51175982	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr16:51175982C>G	ENST00000251020.4	-	2	184	c.151G>C	c.(151-153)Gag>Cag	p.E51Q	SALL1_ENST00000440970.1_5'UTR|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000562674.1_5'Flank|SALL1_ENST00000541611.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	51					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E51K(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TCAAAGAACTCGGCACAGCAC	0.453																																					GBM(103;1352 1446 1855 4775 8890)	uc010vgs.1		NaN																	1	Substitution - Missense(1)		large_intestine(1)	skin(5)|ovary(3)	8						c.(151-153)GAG>CAG		sal-like 1 isoform a							93.0	99.0	97.0					16																	51175982		2198	4300	6498	SO:0001583	missense	6299				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:51175982C>G	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.151G>C	16.37:g.51175982C>G	ENSP00000251020:p.Glu51Gln					SALL1_uc010vgr.1_5'UTR|SALL1_uc010cbv.2_Intron	p.E51Q	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		2	182	-		all_cancers(37;0.0322)	51					Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	ENST00000251020.4	37	c.151G>C	CCDS10747.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.206376	0.79127	.	.	ENSG00000103449	ENST00000251020;ENST00000457559	T	0.50001	0.76	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.67420	0.2891	L	0.59967	1.855	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.69789	-0.5050	10	0.87932	D	0	.	19.1099	0.93313	0.0:1.0:0.0:0.0	.	51	Q9NSC2	SALL1_HUMAN	Q	51	ENSP00000251020:E51Q	ENSP00000251020:E51Q	E	-	1	0	SALL1	49733483	1.000000	0.71417	0.996000	0.52242	0.960000	0.62799	7.814000	0.86154	2.499000	0.84300	0.555000	0.69702	GAG		0.453	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2		NM_002968		107	55	0	0	0	1	0	107	55		
OGFOD1	55239	broad.mit.edu	37	16	56504661	56504661	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr16:56504661G>A	ENST00000566157.1	+	10	1366	c.1243G>A	c.(1243-1245)Gag>Aag	p.E415K	OGFOD1_ENST00000568397.1_Missense_Mutation_p.E372K	NM_018233.3	NP_060703.3	Q8N543	OGFD1_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 1	415					cell proliferation (GO:0008283)|peptidyl-proline hydroxylation (GO:0019511)|protein hydroxylation (GO:0018126)|regulation of translational termination (GO:0006449)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|peptidyl-proline 3-dioxygenase activity (GO:0031544)|peptidyl-proline dioxygenase activity (GO:0031543)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8					Vitamin C(DB00126)	ACAGAGCAATGAGCAGACAGA	0.443																																						uc002ejb.2		NaN																	0				skin(1)	1						c.(1243-1245)GAG>AAG		2-oxoglutarate and iron-dependent oxygenase	Vitamin C(DB00126)						110.0	96.0	100.0					16																	56504661		2198	4300	6498	SO:0001583	missense	55239						iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr16:56504661G>A	BC032919	CCDS10761.2	16q12.2	2010-11-23			ENSG00000087263	ENSG00000087263			25585	protein-coding gene	gene with protein product	"""TPA1, termination and polyadenylation 1, homolog (S. cerevisiae)"""	615857				10997877	Standard	NM_018233		Approved	KIAA1612, FLJ10826, TPA1	uc002ejb.3	Q8N543	OTTHUMG00000133237	ENST00000566157.1:c.1243G>A	16.37:g.56504661G>A	ENSP00000457258:p.Glu415Lys					OGFOD1_uc002ejc.2_Missense_Mutation_p.E275K	p.E415K	NM_018233	NP_060703	Q8N543	OGFD1_HUMAN			10	1344	+			415					H3BUQ2|Q9H7U5|Q9H9J9|Q9HA87|Q9HCG0|Q9NVB6	Missense_Mutation	SNP	ENST00000566157.1	37	c.1243G>A	CCDS10761.2	.	.	.	.	.	.	.	.	.	.	G	7.853	0.724483	0.15439	.	.	ENSG00000087263	ENST00000336111;ENST00000540727	.	.	.	5.03	3.03	0.35002	Oxoglutarate/iron-dependent oxygenase, C-terminal degradation domain (1);	1.206000	0.05669	N	0.588344	T	0.30541	0.0768	L	0.36672	1.1	0.09310	N	1	B	0.25390	0.125	B	0.27380	0.079	T	0.31081	-0.9956	9	0.07175	T	0.84	-21.0764	5.5466	0.17067	0.2437:0.1675:0.5888:0.0	.	415	Q8N543	OGFD1_HUMAN	K	415;259	.	ENSP00000337196:E415K	E	+	1	0	OGFOD1	55062162	0.000000	0.05858	0.001000	0.08648	0.352000	0.29268	0.760000	0.26475	1.259000	0.44117	0.467000	0.42956	GAG		0.443	OGFOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256976.3		NM_018233		3	14	0	0	0	1	0	3	14		
CNOT1	23019	broad.mit.edu	37	16	58565903	58565903	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr16:58565903T>C	ENST00000317147.5	-	42	6468	c.6136A>G	c.(6136-6138)Ata>Gta	p.I2046V	CNOT1_ENST00000569240.1_Missense_Mutation_p.I2041V|CNOT1_ENST00000245138.4_Missense_Mutation_p.I897V	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	2046					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		GCAATAAATATCCGATGGGAA	0.423																																						uc002env.2		NaN																	0				ovary(4)|central_nervous_system(2)	6						c.(6136-6138)ATA>GTA		CCR4-NOT transcription complex, subunit 1							113.0	105.0	108.0					16																	58565903		2198	4300	6498	SO:0001583	missense	23019				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		g.chr16:58565903T>C	AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.6136A>G	16.37:g.58565903T>C	ENSP00000320949:p.Ile2046Val					CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Missense_Mutation_p.I2041V|CNOT1_uc002ent.2_5'UTR|CNOT1_uc010vik.1_Missense_Mutation_p.I1003V	p.I2046V	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN		Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)	42	6429	-			2046					Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	ENST00000317147.5	37	c.6136A>G	CCDS10799.1	.	.	.	.	.	.	.	.	.	.	T	8.041	0.763853	0.15914	.	.	ENSG00000125107	ENST00000317147;ENST00000422872;ENST00000546037;ENST00000245138;ENST00000394200	T	0.39997	1.05	5.67	5.67	0.87782	CCR4-Not complex component, Not1, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.18676	0.0448	N	0.01431	-0.87	0.80722	D	1	B;B;B	0.11235	0.001;0.004;0.004	B;B;B	0.17098	0.003;0.017;0.007	T	0.17868	-1.0355	10	0.10636	T	0.68	.	16.2002	0.82067	0.0:0.0:0.0:1.0	.	897;2046;2041	B5MDN3;A5YKK6;A5YKK6-2	.;CNOT1_HUMAN;.	V	2046;740;51;897;2041	ENSP00000320949:I2046V	ENSP00000245138:I897V	I	-	1	0	CNOT1	57123404	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.997000	0.88414	2.285000	0.76669	0.528000	0.53228	ATA		0.423	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3		NM_016284		99	33	0	0	0	1	0	99	33		
CMTM4	146223	broad.mit.edu	37	16	66651180	66651180	+	Nonstop_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr16:66651180C>G	ENST00000330687.4	-	5	886	c.705G>C	c.(703-705)taG>taC	p.*235Y		NM_178818.2|NM_181521.2	NP_848933.1|NP_852662.1	Q8IZR5	CKLF4_HUMAN	CKLF-like MARVEL transmembrane domain containing 4	0					chemotaxis (GO:0006935)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				cervix(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0811)|Epithelial(162;0.214)		CTGAACTTTTCTAGGCAAGTT	0.363																																						uc002epz.2		NaN																	0				pancreas(1)	1						c.(703-705)TAG>TAC		chemokine-like factor superfamily 4 isoform 1							96.0	91.0	93.0					16																	66651180		2201	4300	6501	SO:0001578	stop_lost	146223				chemotaxis	extracellular space|integral to membrane	cytokine activity	g.chr16:66651180C>G	AF479814	CCDS10817.1, CCDS42170.1	16q22.1-q22.3	2008-02-05	2005-11-08	2005-11-08	ENSG00000183723	ENSG00000183723			19175	protein-coding gene	gene with protein product		607887	"""chemokine-like factor super family 4"", ""chemokine-like factor superfamily 4"""	CKLFSF4		12782130	Standard	NM_178818		Approved		uc002epz.3	Q8IZR5	OTTHUMG00000137500	ENST00000330687.4:c.705G>C	16.37:g.66651180C>G						CMTM4_uc002eqa.2_3'UTR	p.*235Y	NM_178818	NP_848933	Q8IZR5	CKLF4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0811)|Epithelial(162;0.214)	5	887	-		Ovarian(137;0.0563)	235					Q52M40|Q8IZR4|Q8IZV1	Nonstop_Mutation	SNP	ENST00000330687.4	37	c.705G>C	CCDS10817.1	.	.	.	.	.	.	.	.	.	.	C	1.483	-0.556807	0.03967	.	.	ENSG00000183723	ENST00000330687	.	.	.	3.51	0.336	0.15958	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.0348	0.09725	0.0:0.5784:0.1948:0.2268	.	.	.	.	Y	235	.	.	X	-	3	2	CMTM4	65208681	0.000000	0.05858	0.004000	0.12327	0.032000	0.12392	-0.187000	0.09656	0.113000	0.18004	-0.176000	0.13171	TAG		0.363	CMTM4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268807.1				10	40	0	0	0	1	0	10	40		
DYNC1LI2	1783	broad.mit.edu	37	16	66783140	66783140	+	Silent	SNP	T	T	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr16:66783140T>A	ENST00000258198.2	-	3	464	c.258A>T	c.(256-258)ctA>ctT	p.L86L	DYNC1LI2_ENST00000379482.2_Silent_p.L86L|DYNC1LI2_ENST00000443351.2_Silent_p.L86L|DYNC1LI2_ENST00000440564.2_Intron|RP11-61A14.4_ENST00000501143.1_lincRNA	NM_006141.2	NP_006132.1	O43237	DC1L2_HUMAN	dynein, cytoplasmic 1, light intermediate chain 2	86					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|centrosome localization (GO:0051642)|microtubule cytoskeleton organization (GO:0000226)|microtubule-based movement (GO:0007018)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			central_nervous_system(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(4)|stomach(1)	15		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212)		AGAGATATTCTAGGCCTCTTC	0.468																																						uc002eqb.1		NaN																	0				central_nervous_system(3)|skin(1)	4						c.(256-258)CTA>CTT		dynein, cytoplasmic, light intermediate							240.0	206.0	218.0					16																	66783140		2200	4300	6500	SO:0001819	synonymous_variant	1783				transport	centrosome|cytoplasmic dynein complex|microtubule	ATP binding|motor activity	g.chr16:66783140T>A	AF035812	CCDS10818.1, CCDS67049.1	16q22.1	2008-02-05	2005-11-25	2005-11-25	ENSG00000135720	ENSG00000135720		"""Cytoplasmic dyneins"""	2966	protein-coding gene	gene with protein product		611406	"""dynein, cytoplasmic, light intermediate polypeptide 2"""	DNCLI2		16260502	Standard	NM_006141		Approved		uc002eqb.1	O43237	OTTHUMG00000137523	ENST00000258198.2:c.258A>T	16.37:g.66783140T>A						DYNC1LI2_uc010vis.1_Silent_p.L86L|DYNC1LI2_uc010vit.1_Silent_p.L86L|DYNC1LI2_uc010viu.1_Intron	p.L86L	NM_006141	NP_006132	O43237	DC1L2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212)	3	289	-		Ovarian(137;0.0563)	86					A8K6V1|B4DZP4|Q8TAT3	Silent	SNP	ENST00000258198.2	37	c.258A>T	CCDS10818.1																																																																																				0.468	DYNC1LI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268846.1		NM_006141		35	62	0	0	0	1	0	35	62		
ELMO3	79767	broad.mit.edu	37	16	67236431	67236431	+	Missense_Mutation	SNP	G	G	A	rs201129653		TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr16:67236431G>A	ENST00000360833.1	+	13	1558	c.1501G>A	c.(1501-1503)Gac>Aac	p.D501N	MIR328_ENST00000385213.1_RNA|ELMO3_ENST00000477898.1_Missense_Mutation_p.D352N|ELMO3_ENST00000393997.2_Missense_Mutation_p.D518N			Q96BJ8	ELMO3_HUMAN	engulfment and cell motility 3	465					apoptotic process (GO:0006915)|phagocytosis (GO:0006909)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		GGAGGACTTCGACAAGGTGGG	0.622																																						uc002esa.2		NaN																	0					0						c.(1552-1554)GAC>AAC		engulfment and cell motility 3		G	ASN/ASP	1,4389	2.1+/-5.4	0,1,2194	53.0	63.0	60.0		1552	5.8	1.0	16		60	1,8591	1.2+/-3.3	0,1,4295	no	missense	ELMO3	NM_024712.3	23	0,2,6489	AA,AG,GG		0.0116,0.0228,0.0154	probably-damaging	518/774	67236431	2,12980	2195	4296	6491	SO:0001583	missense	79767				apoptosis|phagocytosis	cytoplasm|cytoskeleton	SH3 domain binding	g.chr16:67236431G>A		CCDS10833.2	16q22.1	2010-03-18	2006-01-20		ENSG00000102890	ENSG00000102890		"""Engulfment and cell motility proteins"""	17289	protein-coding gene	gene with protein product		606422	"""engulfment and cell motility 3 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_024712		Approved	FLJ13824, CED12, ELMO-3, CED-12	uc002esa.3	Q96BJ8	OTTHUMG00000133570	ENST00000360833.1:c.1501G>A	16.37:g.67236431G>A	ENSP00000354077:p.Asp501Asn					ELMO3_uc002esb.2_Missense_Mutation_p.D501N|ELMO3_uc002esc.2_Missense_Mutation_p.D352N|uc010vjf.1_5'Flank|MIR328_hsa-mir-328|MI0000804_5'Flank	p.D518N	NM_024712	NP_078988	Q96BJ8	ELMO3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)	14	1595	+		Ovarian(137;0.0563)	465			ELMO.		B4DV86|Q9H8A5	Missense_Mutation	SNP	ENST00000360833.1	37	c.1552G>A		.	.	.	.	.	.	.	.	.	.	G	15.03	2.711431	0.48517	2.28E-4	1.16E-4	ENSG00000102890	ENST00000360833;ENST00000393997	T;T	0.28666	1.6;1.6	5.82	5.82	0.92795	Engulfment/cell motility, ELMO (2);	0.041239	0.85682	D	0.000000	T	0.42381	0.1200	L	0.31664	0.95	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.06338	-1.0832	10	0.08837	T	0.75	-21.4442	18.6835	0.91556	0.0:0.0:1.0:0.0	.	465;501;518	Q96BJ8;F8W9E7;Q96BJ8-3	ELMO3_HUMAN;.;.	N	501;518	ENSP00000354077:D501N;ENSP00000377566:D518N	ENSP00000354077:D501N	D	+	1	0	ELMO3	65793932	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.728000	0.68531	2.757000	0.94681	0.655000	0.94253	GAC		0.622	ELMO3-001	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000257667.2		NM_024712		35	86	0	0	0	1	0	35	86		
FHOD1	29109	broad.mit.edu	37	16	67263797	67263797	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr16:67263797G>A	ENST00000258201.4	-	21	3558	c.3311C>T	c.(3310-3312)tCa>tTa	p.S1104L	LRRC29_ENST00000462169.1_5'Flank|LRRC29_ENST00000409509.1_5'Flank|AC040160.1_ENST00000454102.2_5'Flank|LRRC29_ENST00000341546.3_5'Flank	NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	1104	DAD.				positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		GATCTCATCTGATGTATCACT	0.582																																						uc002esl.2		NaN																	0				breast(2)|ovary(1)	3						c.(3310-3312)TCA>TTA		formin homology 2 domain containing 1							73.0	75.0	74.0					16																	67263797		2198	4300	6498	SO:0001583	missense	29109				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding	g.chr16:67263797G>A	AF113615	CCDS10834.1	16q22	2008-02-22			ENSG00000135723	ENSG00000135723			17905	protein-coding gene	gene with protein product		606881				10352228, 16112087	Standard	NM_013241		Approved	FHOS	uc002esl.3	Q9Y613	OTTHUMG00000137521	ENST00000258201.4:c.3311C>T	16.37:g.67263797G>A	ENSP00000258201:p.Ser1104Leu					LRRC29_uc002esf.2_5'Flank|LRRC29_uc002esg.2_5'Flank|LRRC29_uc010vjg.1_5'Flank|FHOD1_uc002esk.2_Missense_Mutation_p.S163L|FHOD1_uc010ced.2_Missense_Mutation_p.S911L	p.S1104L	NM_013241	NP_037373	Q9Y613	FHOD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)	21	3423	-		Ovarian(137;0.0563)	1104					Q59F76|Q6Y1F2|Q76MS8|Q8N521	Missense_Mutation	SNP	ENST00000258201.4	37	c.3311C>T	CCDS10834.1	.	.	.	.	.	.	.	.	.	.	G	18.20	3.570443	0.65765	.	.	ENSG00000135723	ENST00000258201	T	0.37411	1.2	5.46	5.46	0.80206	.	0.063201	0.64402	D	0.000004	T	0.46034	0.1372	M	0.71581	2.175	0.58432	D	0.999992	P	0.41546	0.754	B	0.42738	0.396	T	0.47484	-0.9114	10	0.56958	D	0.05	.	18.0541	0.89358	0.0:0.0:1.0:0.0	.	1104	Q9Y613	FHOD1_HUMAN	L	1104	ENSP00000258201:S1104L	ENSP00000258201:S1104L	S	-	2	0	FHOD1	65821298	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.185000	0.77714	2.840000	0.97914	0.655000	0.94253	TCA		0.582	FHOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268844.2				7	118	0	0	0	1	0	7	118		
FHOD1	29109	broad.mit.edu	37	16	67273347	67273347	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr16:67273347C>G	ENST00000258201.4	-	2	459	c.212G>C	c.(211-213)tGt>tCt	p.C71S		NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	71	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		TTGCAGAGCACAATCCTCCAA	0.557																																						uc002esl.2		NaN																	0				breast(2)|ovary(1)	3						c.(211-213)TGT>TCT		formin homology 2 domain containing 1							60.0	52.0	55.0					16																	67273347		2198	4300	6498	SO:0001583	missense	29109				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding	g.chr16:67273347C>G	AF113615	CCDS10834.1	16q22	2008-02-22			ENSG00000135723	ENSG00000135723			17905	protein-coding gene	gene with protein product		606881				10352228, 16112087	Standard	NM_013241		Approved	FHOS	uc002esl.3	Q9Y613	OTTHUMG00000137521	ENST00000258201.4:c.212G>C	16.37:g.67273347C>G	ENSP00000258201:p.Cys71Ser					FHOD1_uc010ced.2_5'UTR|FHOD1_uc010vjh.1_5'UTR	p.C71S	NM_013241	NP_037373	Q9Y613	FHOD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)	2	324	-		Ovarian(137;0.0563)	71			GBD/FH3.		Q59F76|Q6Y1F2|Q76MS8|Q8N521	Missense_Mutation	SNP	ENST00000258201.4	37	c.212G>C	CCDS10834.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.189183	0.78789	.	.	ENSG00000135723	ENST00000258201	T	0.26518	1.73	4.88	4.88	0.63580	GTPase-binding/formin homology 3 (1);	0.104174	0.64402	D	0.000002	T	0.40145	0.1105	L	0.39397	1.21	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.02404	-1.1164	10	0.25106	T	0.35	.	15.2519	0.73552	0.0:1.0:0.0:0.0	.	71	Q9Y613	FHOD1_HUMAN	S	71	ENSP00000258201:C71S	ENSP00000258201:C71S	C	-	2	0	FHOD1	65830848	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	6.714000	0.74692	2.707000	0.92482	0.655000	0.94253	TGT		0.557	FHOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268844.2				11	68	0	0	0	1	0	11	68		
COG8	84342	broad.mit.edu	37	16	69369059	69369059	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr16:69369059T>C	ENST00000306875.4	-	3	892	c.778A>G	c.(778-780)Act>Gct	p.T260A	RP11-343C2.9_ENST00000563634.1_Missense_Mutation_p.T135A|RP11-343C2.12_ENST00000562949.1_5'Flank|COG8_ENST00000562081.1_Missense_Mutation_p.T260A	NM_032382.4	NP_115758.3	Q96MW5	COG8_HUMAN	component of oligomeric golgi complex 8	260					protein transport (GO:0015031)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|kidney(1)|large_intestine(2)|ovary(2)|skin(1)	9						GGAATGGCAGTCAGGATGGAC	0.517																																						uc002ewy.2		NaN																	0				ovary(1)	1						c.(778-780)ACT>GCT		component of oligomeric golgi complex 8							84.0	70.0	75.0					16																	69369059		2198	4300	6498	SO:0001583	missense	84342				protein transport	Golgi membrane|Golgi transport complex		g.chr16:69369059T>C	AK025968	CCDS10876.1	16q22.1	2011-05-31			ENSG00000213380	ENSG00000213380		"""Components of oligomeric golgi complex"""	18623	protein-coding gene	gene with protein product		606979				11980916	Standard	NM_032382		Approved	FLJ22315, DOR1	uc002ewy.2	Q96MW5	OTTHUMG00000154277	ENST00000306875.4:c.778A>G	16.37:g.69369059T>C	ENSP00000305459:p.Thr260Ala					COG8_uc002ewz.3_Missense_Mutation_p.T260A	p.T260A	NM_032382	NP_115758	Q96MW5	COG8_HUMAN			3	849	-			260					Q0VAK2|Q8WVV6|Q9H6F8	Missense_Mutation	SNP	ENST00000306875.4	37	c.778A>G	CCDS10876.1	.	.	.	.	.	.	.	.	.	.	T	4.362	0.066727	0.08388	.	.	ENSG00000213380	ENST00000306875	T	0.39406	1.08	5.93	5.93	0.95920	Cullin repeat-like-containing domain (1);	0.244651	0.47455	D	0.000234	T	0.17577	0.0422	N	0.03071	-0.42	0.38593	D	0.950464	B;B	0.09022	0.002;0.001	B;B	0.12156	0.007;0.004	T	0.23940	-1.0174	10	0.11485	T	0.65	-0.8341	8.8621	0.35265	0.0:0.1091:0.0:0.8909	.	287;260	B4DYU2;Q96MW5	.;COG8_HUMAN	A	260	ENSP00000305459:T260A	ENSP00000305459:T260A	T	-	1	0	COG8	67926560	0.986000	0.35501	1.000000	0.80357	0.993000	0.82548	1.475000	0.35409	2.270000	0.75569	0.460000	0.39030	ACT		0.517	COG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268948.2		NM_032382		8	45	0	0	0	1	0	8	45		
SF3B3	23450	broad.mit.edu	37	16	70603923	70603923	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr16:70603923G>T	ENST00000302516.5	+	24	3490	c.3279G>T	c.(3277-3279)atG>atT	p.M1093I		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	1093					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|protein complex assembly (GO:0006461)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	nucleic acid binding (GO:0003676)			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				AGGTGATCATGAACTACCATG	0.552																																						uc002ezf.2		NaN																	0				ovary(1)	1						c.(3277-3279)ATG>ATT		splicing factor 3b, subunit 3							124.0	92.0	103.0					16																	70603923		2198	4300	6498	SO:0001583	missense	23450				protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding	g.chr16:70603923G>T	AJ001443	CCDS10894.1	16q22	2008-08-01	2002-08-29		ENSG00000189091	ENSG00000189091			10770	protein-coding gene	gene with protein product		605592	"""splicing factor 3b, subunit 3, 130kD"""			10490618	Standard	NM_012426		Approved	SAP130, SF3b130, RSE1, KIAA0017	uc002ezf.3	Q15393	OTTHUMG00000137582	ENST00000302516.5:c.3279G>T	16.37:g.70603923G>T	ENSP00000305790:p.Met1093Ile						p.M1093I	NM_012426	NP_036558	Q15393	SF3B3_HUMAN			24	3490	+		Ovarian(137;0.0694)	1093					Q6NTI8|Q96GC0|Q9BPY2|Q9UFX7|Q9UJ29	Missense_Mutation	SNP	ENST00000302516.5	37	c.3279G>T	CCDS10894.1	.	.	.	.	.	.	.	.	.	.	G	14.04	2.416006	0.42817	.	.	ENSG00000189091	ENST00000302516	T	0.40756	1.02	5.66	5.66	0.87406	Cleavage/polyadenylation specificity factor, A subunit, C-terminal (1);	0.093732	0.64402	D	0.000001	T	0.22513	0.0543	N	0.05230	-0.09	0.45883	D	0.998738	B	0.02656	0.0	B	0.01281	0.0	T	0.10989	-1.0606	10	0.21014	T	0.42	.	13.0138	0.58745	0.0734:0.0:0.9266:0.0	.	1093	Q15393	SF3B3_HUMAN	I	1093	ENSP00000305790:M1093I	ENSP00000305790:M1093I	M	+	3	0	SF3B3	69161424	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	5.607000	0.67648	2.671000	0.90904	0.563000	0.77884	ATG		0.552	SF3B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268972.1		NM_012426		17	55	1	0	1.02788e-11	1	1.1109e-11	17	55		
ADAT1	23536	broad.mit.edu	37	16	75646313	75646313	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr16:75646313C>T	ENST00000307921.3	-	7	1016	c.871G>A	c.(871-873)Gga>Aga	p.G291R		NM_012091.3	NP_036223.2	Q9BUB4	ADAT1_HUMAN	adenosine deaminase, tRNA-specific 1	291	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				tRNA processing (GO:0008033)		metal ion binding (GO:0046872)|RNA binding (GO:0003723)|tRNA-specific adenosine deaminase activity (GO:0008251)			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)	19						GTTCTGTCTCCACGGCCTGGC	0.587																																						uc002feo.1		NaN																	0				ovary(1)|skin(1)	2						c.(871-873)GGA>AGA		adenosine deaminase, tRNA-specific 1							87.0	77.0	80.0					16																	75646313		2198	4300	6498	SO:0001583	missense	23536				tRNA processing		metal ion binding|RNA binding|tRNA-specific adenosine deaminase activity	g.chr16:75646313C>T	AF125188	CCDS10922.1	16q23	2008-02-05			ENSG00000065457	ENSG00000065457			228	protein-coding gene	gene with protein product		604230				10430867	Standard	NM_012091		Approved		uc002feo.2	Q9BUB4	OTTHUMG00000137611	ENST00000307921.3:c.871G>A	16.37:g.75646313C>T	ENSP00000310015:p.Gly291Arg					ADAT1_uc002fep.1_Missense_Mutation_p.G142R	p.G291R	NM_012091	NP_036223	Q9BUB4	ADAT1_HUMAN			7	973	-			291			A to I editase.		Q9NVB7|Q9UNG3	Missense_Mutation	SNP	ENST00000307921.3	37	c.871G>A	CCDS10922.1	.	.	.	.	.	.	.	.	.	.	C	33	5.248602	0.95305	.	.	ENSG00000065457	ENST00000307921;ENST00000542252	D	0.95035	-3.59	5.43	5.43	0.79202	Adenosine deaminase/editase (3);	0.148137	0.64402	D	0.000010	D	0.98112	0.9377	H	0.94847	3.59	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99226	1.0880	10	0.87932	D	0	-8.3311	17.8516	0.88748	0.0:1.0:0.0:0.0	.	291	Q9BUB4	ADAT1_HUMAN	R	291;262	ENSP00000310015:G291R	ENSP00000310015:G291R	G	-	1	0	ADAT1	74203814	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	7.569000	0.82380	2.549000	0.85964	0.655000	0.94253	GGA		0.587	ADAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269027.1		NM_012091		17	77	0	0	0	1	0	17	77		
CNTNAP4	85445	broad.mit.edu	37	16	76556045	76556045	+	Silent	SNP	A	A	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr16:76556045A>G	ENST00000476707.1	+	16	2794	c.2655A>G	c.(2653-2655)gaA>gaG	p.E885E	CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000377504.4_Silent_p.E833E|CNTNAP4_ENST00000478060.1_Silent_p.E809E|CNTNAP4_ENST00000307431.8_Silent_p.E881E			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	882	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TGAGGGTTGAAAGGAACATGA	0.522																																						uc002feu.1		NaN																	0				ovary(1)|pancreas(1)	2						c.(2644-2646)GAA>GAG		cell recognition protein CASPR4 isoform 1							137.0	137.0	137.0					16																	76556045		2057	4224	6281	SO:0001819	synonymous_variant	85445				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr16:76556045A>G	AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.2655A>G	16.37:g.76556045A>G						CNTNAP4_uc002fev.1_Silent_p.E746E|CNTNAP4_uc010chb.1_Silent_p.E809E|CNTNAP4_uc002fex.1_Silent_p.E885E	p.E882E	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN			19	3031	+			882			Extracellular (Potential).|Laminin G-like 3.		E9PFZ6|Q86YZ7	Silent	SNP	ENST00000476707.1	37	c.2646A>G																																																																																					0.522	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1		NM_033401		48	139	0	0	0	1	0	48	139		
ATMIN	23300	broad.mit.edu	37	16	81077671	81077671	+	Nonsense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr16:81077671C>G	ENST00000299575.4	+	4	1592	c.1568C>G	c.(1567-1569)tCa>tGa	p.S523*	ATMIN_ENST00000539819.1_3'UTR|ATMIN_ENST00000564241.1_Nonsense_Mutation_p.S367*|ATMIN_ENST00000566488.1_Nonsense_Mutation_p.S367*	NM_015251.2	NP_056066.2	O43313	ATMIN_HUMAN	ATM interactor	523					cellular response to DNA damage stimulus (GO:0006974)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dynein binding (GO:0045502)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						AGTGTTCATTCATCATATAAT	0.393																																						uc002ffz.1		NaN																	0					0						c.(1567-1569)TCA>TGA		ATM interactor							60.0	59.0	60.0					16																	81077671		2202	4300	6502	SO:0001587	stop_gained	23300				response to DNA damage stimulus	nucleus	zinc ion binding	g.chr16:81077671C>G	BC002701	CCDS32494.1, CCDS73917.1	16q23.2	2013-01-07			ENSG00000166454	ENSG00000166454		"""Zinc fingers, C2H2-type"""	29034	protein-coding gene	gene with protein product	"""ATM/ATR-Substrate Chk2-Interacting Zn++-finger protein"", ""ATM INteracting protein"""	614693				15933716, 17525732, 19001856	Standard	XM_005255866		Approved	ASCIZ, KIAA0431, ZNF822	uc002ffz.1	O43313	OTTHUMG00000176469	ENST00000299575.4:c.1568C>G	16.37:g.81077671C>G	ENSP00000299575:p.Ser523*					ATMIN_uc002fga.2_Nonsense_Mutation_p.S365*|ATMIN_uc010vnn.1_Nonsense_Mutation_p.S294*|ATMIN_uc002fgb.1_Nonsense_Mutation_p.S365*	p.S523*	NM_015251	NP_056066	O43313	ATMIN_HUMAN			4	1586	+			523					A8K4H8|Q68DC9	Nonsense_Mutation	SNP	ENST00000299575.4	37	c.1568C>G	CCDS32494.1	.	.	.	.	.	.	.	.	.	.	C	45	11.909871	0.99616	.	.	ENSG00000166454	ENST00000299575;ENST00000539819	.	.	.	6.17	5.22	0.72569	.	0.305343	0.35585	N	0.003115	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	-3.3429	15.327	0.74172	0.0:0.9337:0.0:0.0663	.	.	.	.	X	523;294	.	ENSP00000299575:S523X	S	+	2	0	ATMIN	79635172	0.865000	0.29922	0.493000	0.27502	0.909000	0.53808	5.026000	0.64103	1.620000	0.50308	0.655000	0.94253	TCA		0.393	ATMIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432140.1		NM_015251		26	66	0	0	0	1	0	26	66		
ATMIN	23300	broad.mit.edu	37	16	81078172	81078172	+	Missense_Mutation	SNP	G	G	A	rs199871299		TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr16:81078172G>A	ENST00000299575.4	+	4	2093	c.2069G>A	c.(2068-2070)gGa>gAa	p.G690E	ATMIN_ENST00000539819.1_3'UTR|ATMIN_ENST00000564241.1_Missense_Mutation_p.G534E|ATMIN_ENST00000566488.1_Missense_Mutation_p.G534E	NM_015251.2	NP_056066.2	O43313	ATMIN_HUMAN	ATM interactor	690					cellular response to DNA damage stimulus (GO:0006974)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dynein binding (GO:0045502)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						GGGTGTAGGGGAAATTCTAAC	0.468																																						uc002ffz.1		NaN																	0					0						c.(2068-2070)GGA>GAA		ATM interactor							122.0	130.0	128.0					16																	81078172		2202	4300	6502	SO:0001583	missense	23300				response to DNA damage stimulus	nucleus	zinc ion binding	g.chr16:81078172G>A	BC002701	CCDS32494.1, CCDS73917.1	16q23.2	2013-01-07			ENSG00000166454	ENSG00000166454		"""Zinc fingers, C2H2-type"""	29034	protein-coding gene	gene with protein product	"""ATM/ATR-Substrate Chk2-Interacting Zn++-finger protein"", ""ATM INteracting protein"""	614693				15933716, 17525732, 19001856	Standard	XM_005255866		Approved	ASCIZ, KIAA0431, ZNF822	uc002ffz.1	O43313	OTTHUMG00000176469	ENST00000299575.4:c.2069G>A	16.37:g.81078172G>A	ENSP00000299575:p.Gly690Glu					ATMIN_uc002fga.2_Missense_Mutation_p.G532E|ATMIN_uc010vnn.1_Missense_Mutation_p.G461E|ATMIN_uc002fgb.1_Missense_Mutation_p.G532E	p.G690E	NM_015251	NP_056066	O43313	ATMIN_HUMAN			4	2087	+			690					A8K4H8|Q68DC9	Missense_Mutation	SNP	ENST00000299575.4	37	c.2069G>A	CCDS32494.1	.	.	.	.	.	.	.	.	.	.	G	8.990	0.977402	0.18812	.	.	ENSG00000166454	ENST00000299575;ENST00000539819	T	0.35605	1.3	6.02	1.42	0.22433	.	0.559219	0.21036	N	0.081259	T	0.35158	0.0922	M	0.72118	2.19	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.35176	-0.9799	10	0.72032	D	0.01	-4.6345	9.1329	0.36857	0.1506:0.5015:0.3479:0.0	.	690	O43313	ATMIN_HUMAN	E	690;461	ENSP00000299575:G690E	ENSP00000299575:G690E	G	+	2	0	ATMIN	79635673	0.061000	0.20836	0.078000	0.20375	0.722000	0.41435	0.381000	0.20619	0.035000	0.15519	0.655000	0.94253	GGA		0.468	ATMIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432140.1		NM_015251		93	217	0	0	0	1	0	93	217		
ATMIN	23300	broad.mit.edu	37	16	81078303	81078303	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr16:81078303G>T	ENST00000299575.4	+	4	2224	c.2200G>T	c.(2200-2202)Gat>Tat	p.D734Y	ATMIN_ENST00000539819.1_3'UTR|ATMIN_ENST00000564241.1_Missense_Mutation_p.D578Y|ATMIN_ENST00000566488.1_Missense_Mutation_p.D578Y	NM_015251.2	NP_056066.2	O43313	ATMIN_HUMAN	ATM interactor	734					cellular response to DNA damage stimulus (GO:0006974)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dynein binding (GO:0045502)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						CGTGAGTACTGATTCATCTGA	0.428																																						uc002ffz.1		NaN																	0					0						c.(2200-2202)GAT>TAT		ATM interactor							87.0	87.0	87.0					16																	81078303		2202	4300	6502	SO:0001583	missense	23300				response to DNA damage stimulus	nucleus	zinc ion binding	g.chr16:81078303G>T	BC002701	CCDS32494.1, CCDS73917.1	16q23.2	2013-01-07			ENSG00000166454	ENSG00000166454		"""Zinc fingers, C2H2-type"""	29034	protein-coding gene	gene with protein product	"""ATM/ATR-Substrate Chk2-Interacting Zn++-finger protein"", ""ATM INteracting protein"""	614693				15933716, 17525732, 19001856	Standard	XM_005255866		Approved	ASCIZ, KIAA0431, ZNF822	uc002ffz.1	O43313	OTTHUMG00000176469	ENST00000299575.4:c.2200G>T	16.37:g.81078303G>T	ENSP00000299575:p.Asp734Tyr					ATMIN_uc002fga.2_Missense_Mutation_p.D576Y|ATMIN_uc010vnn.1_Missense_Mutation_p.D505Y|ATMIN_uc002fgb.1_Missense_Mutation_p.D576Y	p.D734Y	NM_015251	NP_056066	O43313	ATMIN_HUMAN			4	2218	+			734					A8K4H8|Q68DC9	Missense_Mutation	SNP	ENST00000299575.4	37	c.2200G>T	CCDS32494.1	.	.	.	.	.	.	.	.	.	.	G	16.81	3.227188	0.58668	.	.	ENSG00000166454	ENST00000299575;ENST00000539819	T	0.39056	1.1	6.02	4.08	0.47627	.	0.093395	0.64402	D	0.000001	T	0.57873	0.2083	M	0.76574	2.34	0.58432	D	0.999994	D	0.64830	0.994	P	0.57371	0.819	T	0.62604	-0.6819	10	0.87932	D	0	-22.6433	12.452	0.55682	0.1341:0.0:0.8659:0.0	.	734	O43313	ATMIN_HUMAN	Y	734;505	ENSP00000299575:D734Y	ENSP00000299575:D734Y	D	+	1	0	ATMIN	79635804	1.000000	0.71417	0.904000	0.35570	0.691000	0.40173	9.691000	0.98679	0.889000	0.36185	0.655000	0.94253	GAT		0.428	ATMIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432140.1		NM_015251		37	221	1	0	3.76114e-14	1	4.10857e-14	37	221		
ATMIN	23300	broad.mit.edu	37	16	81078383	81078383	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr16:81078383G>A	ENST00000299575.4	+	4	2304	c.2280G>A	c.(2278-2280)ttG>ttA	p.L760L	ATMIN_ENST00000539819.1_3'UTR|ATMIN_ENST00000564241.1_Silent_p.L604L|ATMIN_ENST00000566488.1_Silent_p.L604L	NM_015251.2	NP_056066.2	O43313	ATMIN_HUMAN	ATM interactor	760					cellular response to DNA damage stimulus (GO:0006974)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dynein binding (GO:0045502)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						AAGTTCAGTTGAACAGTACAG	0.448																																						uc002ffz.1		NaN																	0					0						c.(2278-2280)TTG>TTA		ATM interactor							79.0	77.0	78.0					16																	81078383		2202	4300	6502	SO:0001819	synonymous_variant	23300				response to DNA damage stimulus	nucleus	zinc ion binding	g.chr16:81078383G>A	BC002701	CCDS32494.1, CCDS73917.1	16q23.2	2013-01-07			ENSG00000166454	ENSG00000166454		"""Zinc fingers, C2H2-type"""	29034	protein-coding gene	gene with protein product	"""ATM/ATR-Substrate Chk2-Interacting Zn++-finger protein"", ""ATM INteracting protein"""	614693				15933716, 17525732, 19001856	Standard	XM_005255866		Approved	ASCIZ, KIAA0431, ZNF822	uc002ffz.1	O43313	OTTHUMG00000176469	ENST00000299575.4:c.2280G>A	16.37:g.81078383G>A						ATMIN_uc002fga.2_Silent_p.L602L|ATMIN_uc010vnn.1_Silent_p.L531L|ATMIN_uc002fgb.1_Silent_p.L602L	p.L760L	NM_015251	NP_056066	O43313	ATMIN_HUMAN			4	2298	+			760					A8K4H8|Q68DC9	Silent	SNP	ENST00000299575.4	37	c.2280G>A	CCDS32494.1																																																																																				0.448	ATMIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432140.1		NM_015251		46	141	0	0	0	1	0	46	141		
KIAA0513	9764	broad.mit.edu	37	16	85100813	85100813	+	Missense_Mutation	SNP	G	G	C	rs373294941		TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr16:85100813G>C	ENST00000566428.1	+	2	767	c.136G>C	c.(136-138)Gag>Cag	p.E46Q	KIAA0513_ENST00000538274.1_Missense_Mutation_p.E46Q|KIAA0513_ENST00000258180.3_Missense_Mutation_p.E46Q|KIAA0513_ENST00000567328.1_Missense_Mutation_p.E46Q			O60268	K0513_HUMAN	KIAA0513	46						cytoplasm (GO:0005737)				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(9)|pancreas(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.234)		ATCAGAGAGTGAGACCACTGA	0.647																																						uc002fiu.2		NaN																	0				breast(1)	1						c.(136-138)GAG>CAG		hypothetical protein LOC9764		G	GLN/GLU	0,4398		0,0,2199	70.0	56.0	61.0		136	4.5	1.0	16		61	1,8599		0,1,4299	no	missense	KIAA0513	NM_014732.2	29	0,1,6498	CC,CG,GG		0.0116,0.0,0.0077	possibly-damaging	46/412	85100813	1,12997	2199	4300	6499	SO:0001583	missense	9764					cytoplasm		g.chr16:85100813G>C	AB011085	CCDS32499.1, CCDS67091.1, CCDS73919.1	16q24.1	2012-11-29			ENSG00000135709	ENSG00000135709			29058	protein-coding gene	gene with protein product		611675				9628581	Standard	XM_005256265		Approved		uc002fiu.3	O60268	OTTHUMG00000176597	ENST00000566428.1:c.136G>C	16.37:g.85100813G>C	ENSP00000457408:p.Glu46Gln					KIAA0513_uc002fis.3_Missense_Mutation_p.E46Q|KIAA0513_uc010voj.1_Missense_Mutation_p.E46Q|KIAA0513_uc002fit.2_Missense_Mutation_p.E46Q	p.E46Q	NM_014732	NP_055547	O60268	K0513_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.234)	2	356	+			46					B4DSS5|D3DUM2|Q8N6G0	Missense_Mutation	SNP	ENST00000566428.1	37	c.136G>C	CCDS32499.1	.	.	.	.	.	.	.	.	.	.	G	16.81	3.225922	0.58668	0.0	1.16E-4	ENSG00000135709	ENST00000538274;ENST00000258180	T;T	0.37411	1.2;1.2	4.54	4.54	0.55810	.	0.050366	0.85682	D	0.000000	T	0.32704	0.0838	L	0.44542	1.39	0.45930	D	0.998769	P;P	0.39480	0.675;0.546	B;B	0.37888	0.26;0.133	T	0.11012	-1.0605	10	0.33940	T	0.23	-19.3518	16.2567	0.82522	0.0:0.0:1.0:0.0	.	46;46	B4DSS5;O60268	.;K0513_HUMAN	Q	46	ENSP00000446439:E46Q;ENSP00000258180:E46Q	ENSP00000258180:E46Q	E	+	1	0	KIAA0513	83658314	1.000000	0.71417	0.996000	0.52242	0.671000	0.39405	8.759000	0.91667	2.234000	0.73211	0.561000	0.74099	GAG		0.647	KIAA0513-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432736.1		NM_014732		15	46	0	0	0	1	0	15	46		
FBXO31	79791	broad.mit.edu	37	16	87365010	87365010	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr16:87365010C>G	ENST00000311635.7	-	9	1516	c.1504G>C	c.(1504-1506)Gag>Cag	p.E502Q	RP11-178L8.4_ENST00000568879.1_Intron	NM_001282683.1|NM_024735.3	NP_001269612.1|NP_079011.3	Q5XUX0	FBX31_HUMAN	F-box protein 31	502					cellular response to DNA damage stimulus (GO:0006974)|cyclin catabolic process (GO:0008054)|mitotic G1 DNA damage checkpoint (GO:0031571)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0272)		GATTTCAGCTCCAGCCAGACG	0.622																																						uc002fjw.2		NaN																	0				lung(1)	1						c.(1504-1506)GAG>CAG		F-box protein 31							56.0	49.0	52.0					16																	87365010		2198	4300	6498	SO:0001583	missense	79791				cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	SCF ubiquitin ligase complex	cyclin binding	g.chr16:87365010C>G	BC002985	CCDS32501.1, CCDS73922.1	16q24	2008-12-18	2004-05-27			ENSG00000103264		"""F-boxes /  ""other"""""	16510	protein-coding gene	gene with protein product		609102	"""F-box only protein 31"""				Standard	NM_024735		Approved	FBX14, FBXO14, Fbx31, MGC15419	uc002fjw.3	Q5XUX0		ENST00000311635.7:c.1504G>C	16.37:g.87365010C>G	ENSP00000310841:p.Glu502Gln					FBXO31_uc010vot.1_Missense_Mutation_p.E330Q|FBXO31_uc002fjv.2_Missense_Mutation_p.E394Q	p.E502Q	NM_024735	NP_079011	Q5XUX0	FBX31_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0272)	9	1548	-			502					Q5K680|Q8WYV1|Q96D73|Q9UFV4	Missense_Mutation	SNP	ENST00000311635.7	37	c.1504G>C	CCDS32501.1	.	.	.	.	.	.	.	.	.	.	C	32	5.134140	0.94517	.	.	ENSG00000103264	ENST00000311635	.	.	.	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.79667	0.4485	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.995;0.998	T	0.82172	-0.0589	9	0.66056	D	0.02	-7.8294	18.3459	0.90322	0.0:1.0:0.0:0.0	.	502;394	Q5XUX0;Q5XUX0-2	FBX31_HUMAN;.	Q	502	.	ENSP00000310841:E502Q	E	-	1	0	FBXO31	85922511	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.269000	0.78482	2.404000	0.81709	0.561000	0.74099	GAG		0.622	FBXO31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430799.2		NM_024735		14	24	0	0	0	1	0	14	24		
ZFPM1	161882	broad.mit.edu	37	16	88594547	88594547	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr16:88594547G>T	ENST00000319555.3	+	6	935	c.613G>T	c.(613-615)Gag>Tag	p.E205*	RP11-21B21.4_ENST00000563243.1_RNA	NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN	zinc finger protein, FOG family member 1	205					atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|blood coagulation (GO:0007596)|cardiac muscle tissue morphogenesis (GO:0055008)|definitive erythrocyte differentiation (GO:0060318)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|granulocyte differentiation (GO:0030851)|megakaryocyte development (GO:0035855)|megakaryocyte differentiation (GO:0030219)|mitral valve formation (GO:0003192)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of interleukin-4 biosynthetic process (GO:0045403)|negative regulation of mast cell differentiation (GO:0060377)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract morphogenesis (GO:0003151)|platelet formation (GO:0030220)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|primitive erythrocyte differentiation (GO:0060319)|regulation of chemokine production (GO:0032642)|regulation of definitive erythrocyte differentiation (GO:0010724)|T-helper cell lineage commitment (GO:0002295)|transcriptional activation by promoter-enhancer looping (GO:0071733)|tricuspid valve formation (GO:0003195)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)			central_nervous_system(1)|ovary(2)|urinary_tract(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0478)		TGTGAAGAAGGAGCCAGCAGA	0.697																																					Pancreas(49;850 1106 29641 32847 38344)	uc002fkv.2		NaN																	0				central_nervous_system(1)	1						c.(613-615)GAG>TAG		zinc finger protein, multitype 1							17.0	21.0	20.0					16																	88594547		2171	4283	6454	SO:0001587	stop_gained	161882				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|transcription factor binding|zinc ion binding	g.chr16:88594547G>T	AF488691	CCDS32502.1	16q24.2	2013-01-10	2012-11-27		ENSG00000179588	ENSG00000179588		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	19762	protein-coding gene	gene with protein product		601950	"""zinc finger protein, multitype 1"""				Standard	NM_153813		Approved	FOG1, FOG, ZNF89A, ZC2HC11A	uc002fkv.3	Q8IX07	OTTHUMG00000173152	ENST00000319555.3:c.613G>T	16.37:g.88594547G>T	ENSP00000326630:p.Glu205*						p.E205*	NM_153813	NP_722520	Q8IX07	FOG1_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0478)	6	646	+			205						Nonsense_Mutation	SNP	ENST00000319555.3	37	c.613G>T	CCDS32502.1	.	.	.	.	.	.	.	.	.	.	G	37	6.012473	0.97200	.	.	ENSG00000179588	ENST00000319555	.	.	.	4.11	4.11	0.48088	.	0.952221	0.08686	U	0.908729	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-19.5818	13.5016	0.61459	0.0:0.0:1.0:0.0	.	.	.	.	X	205	.	ENSP00000326630:E205X	E	+	1	0	ZFPM1	87122048	1.000000	0.71417	0.929000	0.37066	0.059000	0.15707	5.064000	0.64338	1.847000	0.53656	0.313000	0.20887	GAG		0.697	ZFPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422270.2				4	11	1	0	0.014758	1	0.0148163	4	11		
ZFPM1	161882	broad.mit.edu	37	16	88594556	88594556	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr16:88594556G>C	ENST00000319555.3	+	6	944	c.622G>C	c.(622-624)Gag>Cag	p.E208Q	RP11-21B21.4_ENST00000563243.1_RNA	NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN	zinc finger protein, FOG family member 1	208					atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|blood coagulation (GO:0007596)|cardiac muscle tissue morphogenesis (GO:0055008)|definitive erythrocyte differentiation (GO:0060318)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|granulocyte differentiation (GO:0030851)|megakaryocyte development (GO:0035855)|megakaryocyte differentiation (GO:0030219)|mitral valve formation (GO:0003192)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of interleukin-4 biosynthetic process (GO:0045403)|negative regulation of mast cell differentiation (GO:0060377)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract morphogenesis (GO:0003151)|platelet formation (GO:0030220)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|primitive erythrocyte differentiation (GO:0060319)|regulation of chemokine production (GO:0032642)|regulation of definitive erythrocyte differentiation (GO:0010724)|T-helper cell lineage commitment (GO:0002295)|transcriptional activation by promoter-enhancer looping (GO:0071733)|tricuspid valve formation (GO:0003195)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)			central_nervous_system(1)|ovary(2)|urinary_tract(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0478)		GGAGCCAGCAGAGCCCACGTG	0.692																																					Pancreas(49;850 1106 29641 32847 38344)	uc002fkv.2		NaN																	0				central_nervous_system(1)	1						c.(622-624)GAG>CAG		zinc finger protein, multitype 1							18.0	21.0	20.0					16																	88594556		2175	4289	6464	SO:0001583	missense	161882				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|transcription factor binding|zinc ion binding	g.chr16:88594556G>C	AF488691	CCDS32502.1	16q24.2	2013-01-10	2012-11-27		ENSG00000179588	ENSG00000179588		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	19762	protein-coding gene	gene with protein product		601950	"""zinc finger protein, multitype 1"""				Standard	NM_153813		Approved	FOG1, FOG, ZNF89A, ZC2HC11A	uc002fkv.3	Q8IX07	OTTHUMG00000173152	ENST00000319555.3:c.622G>C	16.37:g.88594556G>C	ENSP00000326630:p.Glu208Gln						p.E208Q	NM_153813	NP_722520	Q8IX07	FOG1_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0478)	6	655	+			208						Missense_Mutation	SNP	ENST00000319555.3	37	c.622G>C	CCDS32502.1	.	.	.	.	.	.	.	.	.	.	G	11.70	1.716783	0.30413	.	.	ENSG00000179588	ENST00000319555	T	0.08546	3.08	4.11	4.11	0.48088	.	0.385196	0.25211	U	0.032315	T	0.14184	0.0343	L	0.44542	1.39	0.21652	N	0.999601	D	0.58620	0.983	P	0.53401	0.725	T	0.06463	-1.0825	10	0.35671	T	0.21	-9.6661	13.5016	0.61459	0.0:0.0:1.0:0.0	.	208	Q8IX07	FOG1_HUMAN	Q	208	ENSP00000326630:E208Q	ENSP00000326630:E208Q	E	+	1	0	ZFPM1	87122057	1.000000	0.71417	0.157000	0.22605	0.089000	0.18198	7.765000	0.85310	1.847000	0.53656	0.313000	0.20887	GAG		0.692	ZFPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422270.2				3	14	0	0	0	1	0	3	14		
CDT1	81620	broad.mit.edu	37	16	88871024	88871024	+	Missense_Mutation	SNP	A	A	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr16:88871024A>C	ENST00000301019.4	+	2	919	c.300A>C	c.(298-300)aaA>aaC	p.K100N		NM_030928.3	NP_112190.2			chromatin licensing and DNA replication factor 1											central_nervous_system(1)|endometrium(2)|kidney(1)|lung(3)	7				BRCA - Breast invasive adenocarcinoma(80;0.0476)		AGATAAAGAAATCCACCCCGG	0.687																																					Melanoma(159;511 3380 30971)	uc002flu.2		NaN																	0				central_nervous_system(1)	1						c.(298-300)AAA>AAC		chromatin licensing and DNA replication factor							24.0	28.0	27.0					16																	88871024		2195	4300	6495	SO:0001583	missense	81620				DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|regulation of DNA-dependent DNA replication initiation|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	DNA binding|protein binding	g.chr16:88871024A>C	AF070552	CCDS32510.1	16q24.3	2014-08-12			ENSG00000167513	ENSG00000167513			24576	protein-coding gene	gene with protein product		605525				11896191, 11555648	Standard	NM_030928		Approved	DUP, RIS2	uc002flu.3	Q9H211	OTTHUMG00000173467	ENST00000301019.4:c.300A>C	16.37:g.88871024A>C	ENSP00000301019:p.Lys100Asn						p.K100N	NM_030928	NP_112190	Q9H211	CDT1_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0476)	2	354	+			100						Missense_Mutation	SNP	ENST00000301019.4	37	c.300A>C	CCDS32510.1	.	.	.	.	.	.	.	.	.	.	A	11.25	1.583925	0.28268	.	.	ENSG00000167513	ENST00000301019	T	0.62639	0.01	4.13	-3.74	0.04385	.	1.379090	0.04597	N	0.397853	T	0.43986	0.1272	L	0.47716	1.5	0.09310	N	1	B	0.29432	0.244	B	0.24701	0.055	T	0.15464	-1.0436	10	0.14252	T	0.57	.	0.4442	0.00491	0.3617:0.1272:0.1764:0.3347	.	100	Q9H211	CDT1_HUMAN	N	100	ENSP00000301019:K100N	ENSP00000301019:K100N	K	+	3	2	CDT1	87398525	0.004000	0.15560	0.004000	0.12327	0.045000	0.14185	-0.125000	0.10579	-0.177000	0.10690	0.248000	0.18094	AAA		0.687	CDT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000423215.1		NM_030928		20	28	0	0	0	1	0	20	28		
ANKRD11	29123	broad.mit.edu	37	16	89348054	89348054	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr16:89348054C>G	ENST00000301030.4	-	9	5356	c.4896G>C	c.(4894-4896)aaG>aaC	p.K1632N	ANKRD11_ENST00000378330.2_Missense_Mutation_p.K1632N	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1632	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)		CCAGACCCTTCTTCCGCCCGT	0.572																																						uc002fmx.1		NaN																	0				ovary(4)|large_intestine(1)|central_nervous_system(1)	6						c.(4894-4896)AAG>AAC		ankyrin repeat domain 11							88.0	97.0	94.0					16																	89348054		2198	4300	6498	SO:0001583	missense	29123					nucleus		g.chr16:89348054C>G	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.4896G>C	16.37:g.89348054C>G	ENSP00000301030:p.Lys1632Asn					ANKRD11_uc002fmy.1_Missense_Mutation_p.K1632N|ANKRD11_uc002fnc.1_Missense_Mutation_p.K1632N|ANKRD11_uc002fna.1_5'Flank|ANKRD11_uc002fnb.1_Missense_Mutation_p.K1589N	p.K1632N	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	5357	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	1632			Lys-rich.		Q6NTG1|Q6QMF8	Missense_Mutation	SNP	ENST00000301030.4	37	c.4896G>C	CCDS32513.1	.	.	.	.	.	.	.	.	.	.	C	12.03	1.815250	0.32053	.	.	ENSG00000167522	ENST00000301030;ENST00000378330	T;T	0.40476	1.03;1.03	5.07	3.09	0.35607	.	0.126503	0.51477	D	0.000089	T	0.43188	0.1236	L	0.34521	1.04	0.80722	D	1	D	0.63880	0.993	P	0.56343	0.796	T	0.38714	-0.9648	10	0.87932	D	0	.	8.7327	0.34510	0.0:0.7599:0.0:0.2401	.	1632	Q6UB99	ANR11_HUMAN	N	1632	ENSP00000301030:K1632N;ENSP00000367581:K1632N	ENSP00000301030:K1632N	K	-	3	2	ANKRD11	87875555	0.902000	0.30710	0.871000	0.34182	0.139000	0.21198	0.002000	0.13061	1.132000	0.42129	0.462000	0.41574	AAG		0.572	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3		NM_013275		10	126	0	0	0	1	0	10	126		
ZNF276	92822	broad.mit.edu	37	16	89799709	89799709	+	Splice_Site	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr16:89799709G>C	ENST00000443381.2	+	7	1266		c.e7-1		ZNF276_ENST00000289816.5_Splice_Site|ZNF276_ENST00000568064.1_Splice_Site|ZNF276_ENST00000446326.2_Splice_Site	NM_001113525.1	NP_001106997.1	Q8N554	ZN276_HUMAN	zinc finger protein 276						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		CTTTTTTTCAGAGTCTCTGGT	0.428																																						uc002fos.3		NaN																	0					0						c.e7-1		zinc finger protein 276 isoform a							79.0	94.0	89.0					16																	89799709		2198	4300	6498	SO:0001630	splice_region_variant	92822				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:89799709G>C	AK026482	CCDS10986.1, CCDS45554.1	16q24.3	2014-02-17	2006-02-10	2006-02-10	ENSG00000158805	ENSG00000158805		"""Zinc fingers, C2H2-type"""	23330	protein-coding gene	gene with protein product	"""centromere protein Z"", ""zinc finger, AD-type"""	608460	"""zinc finger protein 276 homolog (mouse)"""	ZFP276		10936049, 20813266	Standard	NM_152287		Approved	MGC45417, ZNF477, CENPZ, CENP-Z, ZADT	uc002fos.4	Q8N554	OTTHUMG00000138050	ENST00000443381.2:c.1170-1G>C	16.37:g.89799709G>C						ZNF276_uc010ciq.2_Splice_Site_p.K176_splice|ZNF276_uc002fop.2_Splice_Site_p.K298_splice|ZNF276_uc002foq.3_Splice_Site_p.K315_splice|ZNF276_uc010cir.2_Splice_Site|ZNF276_uc002for.3_Splice_Site_p.K176_splice|ZNF276_uc010cis.2_Splice_Site_p.K149_splice|ZNF276_uc002fot.3_Splice_Site|ZNF276_uc010vpm.1_Splice_Site_p.K228_splice|ZNF276_uc010cit.1_Splice_Site_p.K149_splice	p.K390_splice	NM_001113525	NP_001106997	Q8N554	ZN276_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0278)	7	1267	+		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)						Q0VGA1|Q2TBE8|Q3B7H7	Splice_Site	SNP	ENST00000443381.2	37	c.1170_splice	CCDS45554.1	.	.	.	.	.	.	.	.	.	.	G	10.19	1.282986	0.23392	.	.	ENSG00000158805	ENST00000446326;ENST00000289816;ENST00000443381	.	.	.	5.79	5.79	0.91817	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0145	0.92888	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZNF276	88327210	1.000000	0.71417	0.127000	0.21898	0.107000	0.19398	3.882000	0.56160	2.735000	0.93741	0.655000	0.94253	.		0.428	ZNF276-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422517.1		NM_152287	Intron	31	111	0	0	0	1	0	31	111		
FANCA	2175	broad.mit.edu	37	16	89838145	89838145	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr16:89838145C>T	ENST00000389301.3	-	23	2122	c.2092G>A	c.(2092-2094)Gag>Aag	p.E698K	FANCA_ENST00000567284.2_5'UTR|FANCA_ENST00000568369.1_Missense_Mutation_p.E698K	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	698					DNA repair (GO:0006281)|female gonad development (GO:0008585)|male gonad development (GO:0008584)|male meiosis (GO:0007140)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		TTTGATATCTCAACGCTGCTG	0.517			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													uc002fou.1		NaN	yes	Rec		Fanconi anaemia A	16	16q24.3	2175	D|Mis|N|F|S	"""Fanconi anemia, complementation group A"""			L		AML|leukemia			0				ovary(2)|breast(2)|central_nervous_system(1)|skin(1)	6						c.(2092-2094)GAG>AAG	Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi anemia, complementation group A isoform							182.0	147.0	159.0					16																	89838145		2198	4300	6498	SO:0001583	missense	2175	Fanconi_Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding	g.chr16:89838145C>T	Z83067	CCDS32515.1, CCDS42221.1, CCDS67099.1	16q24.3	2014-09-17			ENSG00000187741	ENSG00000187741		"""Fanconi anemia, complementation groups"""	3582	protein-coding gene	gene with protein product		607139		FACA, FANCH		7581462, 9382107	Standard	NM_001286167		Approved	FAA, FA-H, FAH	uc002fou.1	O15360		ENST00000389301.3:c.2092G>A	16.37:g.89838145C>T	ENSP00000373952:p.Glu698Lys					FANCA_uc010vpn.1_Missense_Mutation_p.E698K	p.E698K	NM_000135	NP_000126	O15360	FANCA_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.028)	23	2134	-		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)	698					A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2	Missense_Mutation	SNP	ENST00000389301.3	37	c.2092G>A	CCDS32515.1	.	.	.	.	.	.	.	.	.	.	C	12.84	2.059403	0.36373	.	.	ENSG00000187741	ENST00000389301	D	0.84370	-1.84	4.45	2.42	0.29668	.	1.016810	0.07882	N	0.969767	T	0.80654	0.4664	M	0.65975	2.015	0.09310	N	1	B;B	0.21381	0.055;0.013	B;B	0.16722	0.016;0.016	T	0.60632	-0.7225	10	0.10902	T	0.67	-3.6102	6.2022	0.20583	0.0:0.6942:0.1984:0.1074	.	698;698	B4DRI7;O15360	.;FANCA_HUMAN	K	698	ENSP00000373952:E698K	ENSP00000373952:E698K	E	-	1	0	FANCA	88365646	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.186000	0.09670	0.413000	0.25759	0.551000	0.68910	GAG		0.517	FANCA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000421927.1				29	64	0	0	0	1	0	29	64		
PRPF8	10594	broad.mit.edu	37	17	1564436	1564436	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:1564436G>A	ENST00000572621.1	-	27	4624	c.4359C>T	c.(4357-4359)ttC>ttT	p.F1453F	PRPF8_ENST00000304992.6_Silent_p.F1453F			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1453	Linker.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		GTGTCCACCAGAACGGATTCT	0.547																																						uc002fte.2		NaN																	0				lung(4)|ovary(2)	6						c.(4357-4359)TTC>TTT		U5 snRNP-specific protein							87.0	77.0	80.0					17																	1564436		2203	4300	6503	SO:0001819	synonymous_variant	10594					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	g.chr17:1564436G>A	AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"""PRP8 pre-mRNA processing factor 8 homolog (yeast)"", ""PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"""	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.4359C>T	17.37:g.1564436G>A							p.F1453F	NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)	28	4473	-			1453					O14547|O75965	Silent	SNP	ENST00000572621.1	37	c.4359C>T	CCDS11010.1																																																																																				0.547	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2				44	4	0	0	0	1	0	44	4		
PRPF8	10594	broad.mit.edu	37	17	1564447	1564447	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:1564447G>C	ENST00000572621.1	-	27	4613	c.4348C>G	c.(4348-4350)Cag>Gag	p.Q1450E	PRPF8_ENST00000304992.6_Missense_Mutation_p.Q1450E			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1450	Linker.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		AACGGATTCTGCTTCAAAACC	0.542																																						uc002fte.2		NaN																	0				lung(4)|ovary(2)	6						c.(4348-4350)CAG>GAG		U5 snRNP-specific protein							82.0	73.0	76.0					17																	1564447		2203	4300	6503	SO:0001583	missense	10594					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	g.chr17:1564447G>C	AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"""PRP8 pre-mRNA processing factor 8 homolog (yeast)"", ""PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"""	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.4348C>G	17.37:g.1564447G>C	ENSP00000460348:p.Gln1450Glu						p.Q1450E	NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)	28	4462	-			1450					O14547|O75965	Missense_Mutation	SNP	ENST00000572621.1	37	c.4348C>G	CCDS11010.1	.	.	.	.	.	.	.	.	.	.	g	11.70	1.717888	0.30413	.	.	ENSG00000174231	ENST00000304992	T	0.79352	-1.26	6.17	6.17	0.99709	Pre-mRNA-processing-splicing factor 8, U6-snRNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.68540	0.3012	N	0.14661	0.345	0.80722	D	1	B	0.24317	0.101	B	0.29440	0.102	T	0.61257	-0.7099	10	0.32370	T	0.25	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	1450	Q6P2Q9	PRP8_HUMAN	E	1450	ENSP00000304350:Q1450E	ENSP00000304350:Q1450E	Q	-	1	0	PRPF8	1511197	1.000000	0.71417	1.000000	0.80357	0.243000	0.25628	9.835000	0.99442	2.941000	0.99782	0.655000	0.94253	CAG		0.542	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2				45	5	0	0	0	1	0	45	5		
PRPF8	10594	broad.mit.edu	37	17	1564634	1564634	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:1564634G>A	ENST00000572621.1	-	26	4534	c.4269C>T	c.(4267-4269)ttC>ttT	p.F1423F	PRPF8_ENST00000304992.6_Silent_p.F1423F			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1423	Linker.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		GGTCCTTCTGGAAGAGGGTAT	0.458																																						uc002fte.2		NaN																	0				lung(4)|ovary(2)	6						c.(4267-4269)TTC>TTT		U5 snRNP-specific protein							165.0	151.0	155.0					17																	1564634		2203	4300	6503	SO:0001819	synonymous_variant	10594					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	g.chr17:1564634G>A	AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"""PRP8 pre-mRNA processing factor 8 homolog (yeast)"", ""PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"""	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.4269C>T	17.37:g.1564634G>A							p.F1423F	NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)	27	4383	-			1423					O14547|O75965	Silent	SNP	ENST00000572621.1	37	c.4269C>T	CCDS11010.1																																																																																				0.458	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2				101	11	0	0	0	1	0	101	11		
PRPF8	10594	broad.mit.edu	37	17	1564962	1564962	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:1564962G>C	ENST00000572621.1	-	25	4410	c.4145C>G	c.(4144-4146)tCt>tGt	p.S1382C	PRPF8_ENST00000304992.6_Missense_Mutation_p.S1382C			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1382	Linker.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		GACCCGCTGAGAATCAATGAA	0.552																																						uc002fte.2		NaN																	0				lung(4)|ovary(2)	6						c.(4144-4146)TCT>TGT		U5 snRNP-specific protein							105.0	87.0	93.0					17																	1564962		2203	4300	6503	SO:0001583	missense	10594					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	g.chr17:1564962G>C	AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"""PRP8 pre-mRNA processing factor 8 homolog (yeast)"", ""PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"""	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.4145C>G	17.37:g.1564962G>C	ENSP00000460348:p.Ser1382Cys						p.S1382C	NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)	26	4259	-			1382					O14547|O75965	Missense_Mutation	SNP	ENST00000572621.1	37	c.4145C>G	CCDS11010.1	.	.	.	.	.	.	.	.	.	.	g	24.4	4.526402	0.85600	.	.	ENSG00000174231	ENST00000304992	D	0.86097	-2.07	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	D	0.94935	0.8362	M	0.93594	3.435	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95146	0.8268	10	0.87932	D	0	.	20.6721	0.99693	0.0:0.0:1.0:0.0	.	1382	Q6P2Q9	PRP8_HUMAN	C	1382	ENSP00000304350:S1382C	ENSP00000304350:S1382C	S	-	2	0	PRPF8	1511712	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.835000	0.99442	2.894000	0.99253	0.591000	0.81541	TCT		0.552	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2				47	6	0	0	0	1	0	47	6		
OR1E2	8388	broad.mit.edu	37	17	3336869	3336869	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:3336869G>C	ENST00000248384.1	-	1	266	c.267C>G	c.(265-267)gaC>gaG	p.D89E		NM_003554.1	NP_003545.1	P47887	OR1E2_HUMAN	olfactory receptor, family 1, subfamily E, member 2	89					sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|receptor activity (GO:0004872)			endometrium(3)|large_intestine(3)|lung(3)	9						GGATGGATGGGTCTTGGTTCT	0.483																																						uc010vre.1		NaN																	0				large_intestine(1)	1						c.(265-267)GAC>GAG		olfactory receptor, family 1, subfamily E,							132.0	112.0	119.0					17																	3336869		2203	4300	6503	SO:0001583	missense	8388				sensory perception of smell	integral to plasma membrane	olfactory receptor activity	g.chr17:3336869G>C	U04686	CCDS11026.1	17p13.3	2012-08-09			ENSG00000127780	ENSG00000127780		"""GPCR / Class A : Olfactory receptors"""	8190	protein-coding gene	gene with protein product				OR1E4		8004088, 9500546	Standard	NM_003554		Approved	OR17-93, OR17-135	uc010vre.2	P47887	OTTHUMG00000090651	ENST00000248384.1:c.267C>G	17.37:g.3336869G>C	ENSP00000248384:p.Asp89Glu						p.D89E	NM_003554	NP_003545	P47887	OR1E2_HUMAN			1	267	-			89			Extracellular (Potential).		O43877|O95632|Q0VAD5|Q0VAD6|Q9UL13	Missense_Mutation	SNP	ENST00000248384.1	37	c.267C>G	CCDS11026.1	.	.	.	.	.	.	.	.	.	.	G	1.276	-0.611743	0.03690	.	.	ENSG00000127780	ENST00000248384;ENST00000454364	T	0.01963	4.53	5.47	-1.0	0.10196	GPCR, rhodopsin-like superfamily (1);	1.490840	0.03780	N	0.261192	T	0.02533	0.0077	L	0.41573	1.285	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.47812	-0.9088	10	0.62326	D	0.03	.	2.9119	0.05739	0.174:0.1079:0.4782:0.24	.	89	P47887	OR1E2_HUMAN	E	89;88	ENSP00000248384:D89E	ENSP00000248384:D89E	D	-	3	2	OR1E2	3283619	0.000000	0.05858	0.039000	0.18376	0.008000	0.06430	-0.380000	0.07427	0.034000	0.15491	-0.172000	0.13284	GAC		0.483	OR1E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207311.1				19	26	0	0	0	1	0	19	26		
ZZEF1	23140	broad.mit.edu	37	17	3992006	3992006	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:3992006G>A	ENST00000381638.2	-	13	2331	c.2207C>T	c.(2206-2208)aCc>aTc	p.T736I	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	736							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						AAACTGAAGGGTCCTGAGGAG	0.527																																						uc002fxe.2		NaN																	0				ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(2206-2208)ACC>ATC		zinc finger, ZZ type with EF hand domain 1							125.0	95.0	105.0					17																	3992006		2203	4300	6503	SO:0001583	missense	23140						calcium ion binding|zinc ion binding	g.chr17:3992006G>A	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.2207C>T	17.37:g.3992006G>A	ENSP00000371051:p.Thr736Ile					ZZEF1_uc002fxk.1_Missense_Mutation_p.T736I	p.T736I	NM_015113	NP_055928	O43149	ZZEF1_HUMAN			13	2271	-			736					A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	ENST00000381638.2	37	c.2207C>T	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.985944	0.93044	.	.	ENSG00000074755	ENST00000381638	T	0.20332	2.08	6.01	6.01	0.97437	.	0.000000	0.85682	D	0.000000	T	0.36853	0.0982	L	0.32530	0.975	0.80722	D	1	P;D	0.71674	0.942;0.998	P;P	0.62649	0.701;0.905	T	0.02269	-1.1185	10	0.62326	D	0.03	-21.3188	20.1162	0.97934	0.0:0.0:1.0:0.0	.	736;736	O43149-3;O43149	.;ZZEF1_HUMAN	I	736	ENSP00000371051:T736I	ENSP00000371051:T736I	T	-	2	0	ZZEF1	3938755	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	8.729000	0.91490	2.861000	0.98227	0.650000	0.86243	ACC		0.527	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1		NM_015113		5	25	0	0	0	1	0	5	25		
ZZEF1	23140	broad.mit.edu	37	17	4013096	4013096	+	Silent	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:4013096G>C	ENST00000381638.2	-	6	1252	c.1128C>G	c.(1126-1128)ctC>ctG	p.L376L	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	376	DOC. {ECO:0000255|PROSITE- ProRule:PRU00614}.						calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						CAACAGCCCTGAGACCATGAA	0.443																																						uc002fxe.2		NaN																	0				ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(1126-1128)CTC>CTG		zinc finger, ZZ type with EF hand domain 1							89.0	85.0	87.0					17																	4013096		2203	4300	6503	SO:0001819	synonymous_variant	23140						calcium ion binding|zinc ion binding	g.chr17:4013096G>C	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.1128C>G	17.37:g.4013096G>C						ZZEF1_uc002fxk.1_Silent_p.L376L	p.L376L	NM_015113	NP_055928	O43149	ZZEF1_HUMAN			6	1192	-			376			DOC.		A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Silent	SNP	ENST00000381638.2	37	c.1128C>G	CCDS11043.1																																																																																				0.443	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1		NM_015113		12	43	0	0	0	1	0	12	43		
UBE2G1	7326	broad.mit.edu	37	17	4200037	4200037	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:4200037G>A	ENST00000396981.2	-	3	387	c.222C>T	c.(220-222)ttC>ttT	p.F74F	UBE2G1_ENST00000572484.1_Silent_p.F3F	NM_003342.4	NP_003333.1	P62253	UB2G1_HUMAN	ubiquitin-conjugating enzyme E2G 1	74					protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|ubiquitin-dependent protein catabolic process (GO:0006511)	extracellular vesicular exosome (GO:0070062)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)			large_intestine(2)|lung(4)|skin(1)	7						TTTCTGTAATGAATTTCATTT	0.348																																						uc002fxs.2		NaN																	0					0						c.(220-222)TTC>TTT		ubiquitin-conjugating enzyme E2G 1							178.0	193.0	188.0					17																	4200037		2203	4300	6503	SO:0001819	synonymous_variant	7326				protein K48-linked ubiquitination|protein K63-linked ubiquitination|ubiquitin-dependent protein catabolic process		ATP binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity	g.chr17:4200037G>A	BC026288	CCDS32532.1	17p13.2	2014-05-30	2011-05-19		ENSG00000132388	ENSG00000132388		"""Ubiquitin-conjugating enzymes E2"""	12482	protein-coding gene	gene with protein product		601569	"""ubiquitin-conjugating enzyme E2G 1 (homologous to C. elegans UBC7)"", ""ubiquitin-conjugating enzyme E2G 1 (UBC7 homolog, C. elegans)"", ""ubiquitin-conjugating enzyme E2G 1 (UBC7 homolog, yeast)"""	UBE2G		8893823	Standard	NM_003342		Approved	UBC7	uc002fxs.3	P62253	OTTHUMG00000177826	ENST00000396981.2:c.222C>T	17.37:g.4200037G>A							p.F74F	NM_003342	NP_003333	P62253	UB2G1_HUMAN			3	580	-			74					B2R7P2|D3DTK0|Q99462	Silent	SNP	ENST00000396981.2	37	c.222C>T	CCDS32532.1																																																																																				0.348	UBE2G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439099.1		NM_003342		126	17	0	0	0	1	0	126	17		
MYBBP1A	10514	broad.mit.edu	37	17	4457360	4457360	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:4457360T>C	ENST00000254718.4	-	4	713	c.407A>G	c.(406-408)aAc>aGc	p.N136S	MYBBP1A_ENST00000381556.2_Missense_Mutation_p.N136S			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	136	Interaction with MYB. {ECO:0000250}.				cellular response to glucose starvation (GO:0042149)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|osteoblast differentiation (GO:0001649)|positive regulation of cell cycle arrest (GO:0071158)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|NLS-dependent protein nuclear import complex (GO:0042564)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						TCCAAACAGGTTTGCAAAGAG	0.592																																						uc002fyb.3		NaN																	0				ovary(1)|skin(1)	2						c.(406-408)AAC>AGC		MYB binding protein 1a isoform 2							105.0	104.0	104.0					17																	4457360		2203	4300	6503	SO:0001583	missense	10514				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding	g.chr17:4457360T>C	AF147709	CCDS11046.1, CCDS42238.1	17p13.3	2008-07-18			ENSG00000132382	ENSG00000132382			7546	protein-coding gene	gene with protein product	"""p53-activated protein-2"""	604885				10644447	Standard	NM_014520		Approved	P160, PAP2, FLJ37886	uc002fxz.4	Q9BQG0	OTTHUMG00000090747	ENST00000254718.4:c.407A>G	17.37:g.4457360T>C	ENSP00000254718:p.Asn136Ser					MYBBP1A_uc002fxz.3_Missense_Mutation_p.N136S	p.N136S	NM_014520	NP_055335	Q9BQG0	MBB1A_HUMAN			4	469	-			136			Interaction with MYB (By similarity).		Q86VM3|Q9BW49|Q9P0V5|Q9UF99	Missense_Mutation	SNP	ENST00000254718.4	37	c.407A>G	CCDS11046.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.235869	0.79800	.	.	ENSG00000132382	ENST00000381556;ENST00000254718;ENST00000426435	T;T	0.43688	0.94;0.94	5.64	5.64	0.86602	Armadillo-type fold (1);	0.044150	0.85682	D	0.000000	T	0.60314	0.2259	M	0.64997	1.995	0.47819	D	0.999528	D;D	0.63046	0.992;0.99	D;P	0.65010	0.931;0.886	T	0.62914	-0.6753	10	0.66056	D	0.02	-43.5828	14.9749	0.71264	0.0:0.0:0.0:1.0	.	136;136	Q9BQG0;Q9BQG0-2	MBB1A_HUMAN;.	S	136	ENSP00000370968:N136S;ENSP00000254718:N136S	ENSP00000254718:N136S	N	-	2	0	MYBBP1A	4404109	1.000000	0.71417	1.000000	0.80357	0.529000	0.34654	6.577000	0.74027	2.279000	0.76181	0.459000	0.35465	AAC		0.592	MYBBP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207488.2		NM_014520		47	8	0	0	0	1	0	47	8		
SMTNL2	342527	broad.mit.edu	37	17	4498617	4498617	+	Silent	SNP	C	C	T	rs569009545		TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:4498617C>T	ENST00000389313.4	+	5	1051	c.984C>T	c.(982-984)gcC>gcT	p.A328A	SMTNL2_ENST00000338859.4_Silent_p.A184A	NM_001114974.1	NP_001108446.1	Q2TAL5	SMTL2_HUMAN	smoothelin-like 2	328										breast(1)|endometrium(9)|kidney(1)|lung(1)|skin(1)	13				READ - Rectum adenocarcinoma(115;0.0325)		AAACGGCGGCCGGCAAGTACG	0.677													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15882	0.0		0.0	False		,,,				2504	0.0					uc002fyf.1		NaN																	0					0						c.(982-984)GCC>GCT		smoothelin-like 2 isoform 1																																				SO:0001819	synonymous_variant	342527							g.chr17:4498617C>T	AK124452	CCDS11048.1, CCDS45583.1	17p13.2	2006-04-26			ENSG00000188176	ENSG00000188176			24764	protein-coding gene	gene with protein product							Standard	NM_001114974		Approved	FLJ42461	uc002fyf.1	Q2TAL5	OTTHUMG00000132938	ENST00000389313.4:c.984C>T	17.37:g.4498617C>T						SMTNL2_uc002fye.2_Silent_p.A184A	p.A328A	NM_001114974	NP_001108446	Q2TAL5	SMTL2_HUMAN		READ - Rectum adenocarcinoma(115;0.0325)	5	1051	+			328					Q6ZVK6	Silent	SNP	ENST00000389313.4	37	c.984C>T	CCDS45583.1																																																																																				0.677	SMTNL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439129.1		NM_198501		3	26	0	0	0	1	0	3	26		
TP53	7157	broad.mit.edu	37	17	7577099	7577099	+	Missense_Mutation	SNP	C	C	G	rs121912660		TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:7577099C>G	ENST00000269305.4	-	8	1028	c.839G>C	c.(838-840)aGa>aCa	p.R280T	TP53_ENST00000445888.2_Missense_Mutation_p.R280T|TP53_ENST00000420246.2_Missense_Mutation_p.R280T|TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R280T|TP53_ENST00000359597.4_Missense_Mutation_p.R280T	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	280	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> I (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> K (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1694291}.|R -> P (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> T (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1631151}.		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.R280T(65)|p.R280K(49)|p.R280I(16)|p.0?(8)|p.?(2)|p.R280_D281delRD(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.G279_R280delGR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.D281fs*24(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)	GCGCCGGTCTCTCCCAGGACA	0.542		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		154	Substitution - Missense(130)|Deletion - In frame(8)|Whole gene deletion(8)|Deletion - Frameshift(6)|Unknown(2)	p.R280T(53)|p.R280K(41)|p.R280G(18)|p.R280S(13)|p.R280I(12)|p.R280*(8)|p.R280fs*65(7)|p.0?(7)|p.R280R(3)|p.?(2)|p.R280_D281delRD(2)|p.A276_R283delACPGRDRR(1)|p.A276fs*64(1)|p.G279_R280delGR(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.G279fs*59(1)|p.F270_D281del12(1)|p.C275_R283delCACPGRDRR(1)|p.L265_K305del41(1)|p.D281fs*24(1)|p.V272_K292del21(1)|p.C275fs*20(1)	urinary_tract(50)|breast(22)|lung(20)|upper_aerodigestive_tract(14)|haematopoietic_and_lymphoid_tissue(8)|large_intestine(5)|central_nervous_system(5)|stomach(4)|biliary_tract(4)|oesophagus(4)|skin(4)|ovary(4)|bone(4)|prostate(3)|small_intestine(1)|endometrium(1)|vagina(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	CM993218	TP53	M	rs121912660	c.(838-840)AGA>ACA	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							77.0	67.0	70.0					17																	7577099		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.chr17:7577099C>G	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.839G>C	17.37:g.7577099C>G	ENSP00000269305:p.Arg280Thr	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_Intron|TP53_uc002gih.2_Missense_Mutation_p.R280T|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R148T|TP53_uc010cng.1_Missense_Mutation_p.R148T|TP53_uc002gii.1_Missense_Mutation_p.R148T|TP53_uc010cnh.1_Missense_Mutation_p.R280T|TP53_uc010cni.1_Missense_Mutation_p.R280T|TP53_uc002gij.2_Missense_Mutation_p.R280T	p.R280T	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	1033	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	280		R -> T (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> K (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in a sporadic cancer; somatic mutation).|R -> I (in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).	Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		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.839G>C	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	31	5.091761	0.94149	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99866	-7.3;-7.3;-7.3;-7.3;-7.3;-7.3	5.13	5.13	0.70059	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99885	0.9945	M	0.92649	3.33	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;0.998;0.992	D;D;D;D	0.97110	0.984;1.0;0.984;0.977	D	0.96400	0.9296	10	0.87932	D	0	-21.0303	16.1198	0.81342	0.0:1.0:0.0:0.0	.	280;280;280;280	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	T	280;280;280;280;280;269;148	ENSP00000352610:R280T;ENSP00000269305:R280T;ENSP00000398846:R280T;ENSP00000391127:R280T;ENSP00000391478:R280T;ENSP00000425104:R148T	ENSP00000269305:R280T	R	-	2	0	TP53	7517824	0.978000	0.34361	1.000000	0.80357	0.980000	0.70556	7.587000	0.82613	2.667000	0.90743	0.462000	0.41574	AGA		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1		NM_000546		31	3	0	0	0	1	0	31	3		
PFAS	5198	broad.mit.edu	37	17	8157482	8157482	+	Splice_Site	SNP	A	A	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:8157482A>C	ENST00000314666.6	+	3	275		c.e3-1		PFAS_ENST00000545834.1_Splice_Site	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase						'de novo' IMP biosynthetic process (GO:0006189)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|phosphoribosylformylglycinamidine synthase activity (GO:0004642)			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamine(DB00130)	GTCTCCCTGCAGCTGAGGCCC	0.582																																						uc002gkr.2		NaN																	0				ovary(2)|central_nervous_system(2)|pancreas(1)	5						c.e3-2		phosphoribosylformylglycinamidine synthase	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						125.0	101.0	109.0					17																	8157482		2203	4300	6503	SO:0001630	splice_region_variant	5198				'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding	g.chr17:8157482A>C	AB002359	CCDS11136.1	17p13.1	2008-07-31	2008-07-31		ENSG00000178921	ENSG00000178921	6.3.5.3		8863	protein-coding gene	gene with protein product	"""FGAR amidotransferase"""	602133				8110788	Standard	NM_012393		Approved	PURL, FGARAT, KIAA0361	uc002gkr.3	O15067	OTTHUMG00000108188	ENST00000314666.6:c.143-1A>C	17.37:g.8157482A>C						PFAS_uc010vuv.1_Splice_Site	p.A48_splice	NM_012393	NP_036525	O15067	PUR4_HUMAN			3	284	+								A6H8V8	Splice_Site	SNP	ENST00000314666.6	37	c.143_splice	CCDS11136.1	.	.	.	.	.	.	.	.	.	.	A	18.23	3.578960	0.65878	.	.	ENSG00000178921	ENST00000314666	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.1212	0.30971	0.9132:0.0:0.0868:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PFAS	8098207	1.000000	0.71417	0.569000	0.28460	0.971000	0.66376	4.986000	0.63851	2.333000	0.79357	0.533000	0.62120	.		0.582	PFAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226994.2			Intron	20	16	0	0	0	1	0	20	16		
PIK3R5	23533	broad.mit.edu	37	17	8808182	8808182	+	Silent	SNP	G	G	A	rs144885920		TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:8808182G>A	ENST00000447110.1	-	5	448	c.324C>T	c.(322-324)acC>acT	p.T108T	PIK3R5_ENST00000584803.1_Silent_p.T108T|PIK3R5_ENST00000581552.1_Silent_p.T108T	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	108					blood coagulation (GO:0007596)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|G-protein beta/gamma-subunit complex binding (GO:0031683)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						ACCGGTGGTAGGTGCTGGCTG	0.552																																					NSCLC(18;589 615 7696 20311 50332)	uc002glt.2		NaN																	0				breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5						c.(322-324)ACC>ACT		phosphoinositide-3-kinase, regulatory subunit 5							120.0	105.0	110.0					17																	8808182		2203	4300	6503	SO:0001819	synonymous_variant	23533				platelet activation	cytosol|membrane|nucleus		g.chr17:8808182G>A	AF128881	CCDS11147.1, CCDS73986.1	17p13.1	2011-10-13	2008-02-04		ENSG00000141506	ENSG00000141506			30035	protein-coding gene	gene with protein product		611317				12507995	Standard	NM_014308		Approved	P101-PI3K, p101	uc002glt.3	Q8WYR1	OTTHUMG00000108197	ENST00000447110.1:c.324C>T	17.37:g.8808182G>A						PIK3R5_uc010vuz.1_Silent_p.T108T|PIK3R5_uc002glu.3_5'UTR|PIK3R5_uc010coa.1_Silent_p.T108T|PIK3R5_uc010cob.1_5'UTR	p.T108T	NM_014308	NP_055123	Q8WYR1	PI3R5_HUMAN			5	391	-			108					B0LPH4|D3DTS3|Q5G936|Q5G938|Q5G939|Q8IZ23|Q9Y2Y2	Silent	SNP	ENST00000447110.1	37	c.324C>T	CCDS11147.1																																																																																				0.552	PIK3R5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000227003.2		NM_014308		10	28	0	0	0	1	0	10	28		
MYH4	4622	broad.mit.edu	37	17	10362679	10362679	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:10362679G>C	ENST00000255381.2	-	15	1586	c.1476C>G	c.(1474-1476)ttC>ttG	p.F492L	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	492	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TGTGGTGGTTGAAAAACTGTT	0.473																																						uc002gmn.2		NaN																	0				ovary(10)|skin(2)|central_nervous_system(1)	13						c.(1474-1476)TTC>TTG		myosin, heavy polypeptide 4, skeletal muscle							166.0	145.0	152.0					17																	10362679		2203	4297	6500	SO:0001583	missense	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10362679G>C		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.1476C>G	17.37:g.10362679G>C	ENSP00000255381:p.Phe492Leu					uc002gml.1_Intron	p.F492L	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN			15	1587	-			492			Myosin head-like.			Missense_Mutation	SNP	ENST00000255381.2	37	c.1476C>G	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.621778	0.87460	.	.	ENSG00000141048	ENST00000255381	D	0.89810	-2.57	5.57	5.57	0.84162	Myosin head, motor domain (2);	0.000000	0.39475	U	0.001344	D	0.95667	0.8591	H	0.98005	4.125	0.80722	D	1	P	0.37176	0.586	P	0.46659	0.523	D	0.96211	0.9153	10	0.72032	D	0.01	.	19.912	0.97027	0.0:0.0:1.0:0.0	.	492	Q9Y623	MYH4_HUMAN	L	492	ENSP00000255381:F492L	ENSP00000255381:F492L	F	-	3	2	MYH4	10303404	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.905000	0.87416	2.791000	0.96007	0.655000	0.94253	TTC		0.473	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1		NM_017533		26	64	0	0	0	1	0	26	64		
MYO15A	51168	broad.mit.edu	37	17	18045033	18045033	+	Silent	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:18045033G>C	ENST00000205890.5	+	23	5936	c.5598G>C	c.(5596-5598)ctG>ctC	p.L1866L	MYO15A_ENST00000412324.1_3'UTR	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1866	Myosin motor.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TGTCAGTGCTGAGTCGCCTGT	0.582											OREG0024223	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc010vxh.1		NaN																	0				skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9						c.(5596-5598)CTG>CTC		myosin XV							106.0	113.0	111.0					17																	18045033		2122	4232	6354	SO:0001819	synonymous_variant	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18045033G>C	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.5598G>C	17.37:g.18045033G>C			OREG0024223	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	722		p.L1866L	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN			22	5936	+	all_neural(463;0.228)		1866			Myosin head-like.		B4DFC7	Silent	SNP	ENST00000205890.5	37	c.5598G>C	CCDS42271.1																																																																																				0.582	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1		NM_016239		32	28	0	0	0	1	0	32	28		
EPN2	22905	broad.mit.edu	37	17	19235231	19235231	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:19235231C>G	ENST00000314728.5	+	10	1961	c.1477C>G	c.(1477-1479)Caa>Gaa	p.Q493E	RP11-135L13.4_ENST00000581122.1_RNA|EPN2_ENST00000575595.1_Missense_Mutation_p.Q201E|EPN2_ENST00000347697.2_Missense_Mutation_p.Q436E|EPN2_ENST00000395620.2_Missense_Mutation_p.Q436E|EPN2_ENST00000571254.1_Missense_Mutation_p.Q429E|EPN2_ENST00000395626.1_Intron|EPN2_ENST00000395618.3_Missense_Mutation_p.Q208E	NM_014964.4	NP_055779.2	O95208	EPN2_HUMAN	epsin 2	493	6 X 3 AA repeats of [DE]-P-W.				embryonic organ development (GO:0048568)|endocytosis (GO:0006897)|in utero embryonic development (GO:0001701)|Notch signaling pathway (GO:0007219)	clathrin coat of endocytic vesicle (GO:0030128)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	lipid binding (GO:0008289)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	19	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)					CTTTGAGTCTCAACCCCTGAC	0.572																																						uc002gvd.3		NaN																	0				skin(1)	1						c.(1477-1479)CAA>GAA		epsin 2 isoform b							189.0	154.0	166.0					17																	19235231		2203	4300	6503	SO:0001583	missense	22905				endocytosis		lipid binding	g.chr17:19235231C>G	AB028988	CCDS11203.1, CCDS11204.1, CCDS42277.1	17p11.2	2012-11-19			ENSG00000072134	ENSG00000072134			18639	protein-coding gene	gene with protein product	"""Eps15 binding protein"""	607263				10567358	Standard	NM_014964		Approved	KIAA1065, EHB21	uc002gvd.4	O95208	OTTHUMG00000178447	ENST00000314728.5:c.1477C>G	17.37:g.19235231C>G	ENSP00000320543:p.Gln493Glu					EPN2_uc010cql.1_Missense_Mutation_p.Q202E|EPN2_uc002gve.3_Missense_Mutation_p.Q436E|EPN2_uc002gvf.3_Missense_Mutation_p.Q208E|EPN2_uc010vyo.1_Missense_Mutation_p.Q201E|EPN2_uc010vyp.1_Missense_Mutation_p.Q429E|EPN2_uc010vyq.1_Missense_Mutation_p.Q430E|EPN2_uc002gvh.1_Intron|EPN2_uc002gvj.3_Missense_Mutation_p.Q156E	p.Q493E	NM_014964	NP_055779	O95208	EPN2_HUMAN			10	1925	+	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)		493			6 X 3 AA repeats of [DE]-P-W.		A8MTV8|B3KRX8|E9PBC2|O95207|Q52LD0|Q9H7Z2|Q9UPT7	Missense_Mutation	SNP	ENST00000314728.5	37	c.1477C>G	CCDS11203.1	.	.	.	.	.	.	.	.	.	.	C	1.298	-0.605832	0.03717	.	.	ENSG00000072134	ENST00000347697;ENST00000395618;ENST00000314728;ENST00000395628;ENST00000395620	T;T;T;T	0.20881	2.04;2.04;2.04;2.04	4.7	4.7	0.59300	.	0.300318	0.35235	N	0.003350	T	0.21387	0.0515	M	0.68317	2.08	0.39415	D	0.966817	B;B;B;B;B;B	0.32829	0.067;0.067;0.386;0.218;0.067;0.017	B;B;B;B;B;B	0.33620	0.05;0.05;0.167;0.167;0.05;0.021	T	0.03597	-1.1021	10	0.07175	T	0.84	-11.6832	13.0293	0.58833	0.1612:0.8387:0.0:0.0	.	436;429;201;208;436;493	Q52LD0;B7ZKM5;B7Z3A5;A8MTV8;E9PBC2;O95208	.;.;.;.;.;EPN2_HUMAN	E	436;208;493;436;436	ENSP00000261495:Q436E;ENSP00000378980:Q208E;ENSP00000320543:Q493E;ENSP00000378982:Q436E	ENSP00000320543:Q493E	Q	+	1	0	EPN2	19175824	1.000000	0.71417	0.993000	0.49108	0.399000	0.30720	3.979000	0.56888	2.290000	0.77057	0.462000	0.41574	CAA		0.572	EPN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132283.3		NM_014964		33	134	0	0	0	1	0	33	134		
CCDC144NL	339184	broad.mit.edu	37	17	20768765	20768765	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:20768765C>A	ENST00000327925.5	-	4	748	c.629G>T	c.(628-630)aGa>aTa	p.R210I	CCDC144NL_ENST00000539484.1_5'UTR|RP11-344E13.3_ENST00000577537.1_RNA	NM_001004306.1	NP_001004306.1	Q6NUI1	C144L_HUMAN	coiled-coil domain containing 144 family, N-terminal like	210										large_intestine(3)|lung(3)|skin(1)	7						CTTCCCCTTTCTTTTTCCTCT	0.368																																						uc002gyf.2		NaN																	0					0						c.(628-630)AGA>ATA		coiled-coil domain containing 144 family,							103.0	96.0	98.0					17																	20768765		2203	4300	6503	SO:0001583	missense	339184							g.chr17:20768765C>A		CCDS32591.1	17p11.2	2009-01-15			ENSG00000205212	ENSG00000205212			33735	protein-coding gene	gene with protein product							Standard	NM_001004306		Approved	MGC87631	uc002gyf.3	Q6NUI1	OTTHUMG00000132271	ENST00000327925.5:c.629G>T	17.37:g.20768765C>A	ENSP00000328054:p.Arg210Ile					uc002gyg.1_5'Flank|uc002gyh.1_5'Flank	p.R210I	NM_001004306	NP_001004306	Q6NUI1	C144L_HUMAN			4	749	-			210						Missense_Mutation	SNP	ENST00000327925.5	37	c.629G>T	CCDS32591.1	.	.	.	.	.	.	.	.	.	.	c	0.784	-0.761283	0.02996	.	.	ENSG00000205212	ENST00000327925	T	0.19105	2.17	.	.	.	.	.	.	.	.	T	0.12944	0.0314	N	0.08118	0	0.09310	N	1	P	0.42518	0.782	P	0.46172	0.506	T	0.19582	-1.0301	7	0.87932	D	0	.	.	.	.	.	210	Q6NUI1	C144L_HUMAN	I	210	ENSP00000328054:R210I	ENSP00000328054:R210I	R	-	2	0	CCDC144NL	20709357	0.107000	0.21998	0.042000	0.18584	0.042000	0.13812	0.076000	0.14712	0.088000	0.17205	0.089000	0.15464	AGA		0.368	CCDC144NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255361.2		NM_001004306		36	45	1	0	1.60099e-16	1	1.76978e-16	36	45		
CCDC144NL	339184	broad.mit.edu	37	17	20796765	20796765	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:20796765G>C	ENST00000327925.5	-	2	474	c.355C>G	c.(355-357)Cta>Gta	p.L119V	RP11-344E13.3_ENST00000439794.2_RNA|RP11-344E13.3_ENST00000417232.2_RNA|RP11-344E13.3_ENST00000577860.1_RNA|RP11-344E13.3_ENST00000577537.1_RNA|RP11-344E13.3_ENST00000582324.1_RNA|RP11-344E13.3_ENST00000583962.1_RNA|RNU6-1178P_ENST00000516674.1_RNA	NM_001004306.1	NP_001004306.1	Q6NUI1	C144L_HUMAN	coiled-coil domain containing 144 family, N-terminal like	119										large_intestine(3)|lung(3)|skin(1)	7						TCAGGAACTAGTTGCTGAATG	0.279																																						uc002gyf.2		NaN																	0					0						c.(355-357)CTA>GTA		coiled-coil domain containing 144 family,							26.0	29.0	28.0					17																	20796765		2156	4264	6420	SO:0001583	missense	339184							g.chr17:20796765G>C		CCDS32591.1	17p11.2	2009-01-15			ENSG00000205212	ENSG00000205212			33735	protein-coding gene	gene with protein product							Standard	NM_001004306		Approved	MGC87631	uc002gyf.3	Q6NUI1	OTTHUMG00000132271	ENST00000327925.5:c.355C>G	17.37:g.20796765G>C	ENSP00000328054:p.Leu119Val					uc002gyg.1_Intron|uc002gyh.1_Intron	p.L119V	NM_001004306	NP_001004306	Q6NUI1	C144L_HUMAN			2	475	-			119						Missense_Mutation	SNP	ENST00000327925.5	37	c.355C>G	CCDS32591.1	.	.	.	.	.	.	.	.	.	.	g	8.635	0.894577	0.17613	.	.	ENSG00000205212	ENST00000327925	T	0.24350	1.86	0.9	-0.422	0.12329	.	.	.	.	.	T	0.22126	0.0533	N	0.19112	0.55	0.09310	N	1	P	0.49696	0.927	P	0.56563	0.801	T	0.15037	-1.0451	9	0.28530	T	0.3	.	3.7597	0.08599	0.0:0.0:0.573:0.427	.	119	Q6NUI1	C144L_HUMAN	V	119	ENSP00000328054:L119V	ENSP00000328054:L119V	L	-	1	2	CCDC144NL	20737357	0.042000	0.20092	0.001000	0.08648	0.012000	0.07955	0.753000	0.26376	-0.093000	0.12396	0.281000	0.19383	CTA		0.279	CCDC144NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255361.2		NM_001004306		33	30	0	0	0	1	0	33	30		
SLC13A2	9058	broad.mit.edu	37	17	26824194	26824194	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:26824194C>T	ENST00000314669.5	+	12	2106	c.1686C>T	c.(1684-1686)ctC>ctT	p.L562L	SLC13A2_ENST00000444914.3_Silent_p.L611L|SLC13A2_ENST00000545060.1_Silent_p.L519L|SLC13A2_ENST00000537681.1_Silent_p.L491L	NM_003984.3	NP_003975.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	562					dicarboxylic acid transport (GO:0006835)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	low-affinity sodium:dicarboxylate symporter activity (GO:0015361)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	GCATCCCCCTCTTCAGCCTGC	0.612																																						uc002hbh.2		NaN																	0					0						c.(1684-1686)CTC>CTT		solute carrier family 13, member 2 isoform b	Succinic acid(DB00139)						165.0	140.0	149.0					17																	26824194		2203	4300	6503	SO:0001819	synonymous_variant	9058					integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity	g.chr17:26824194C>T	U26209	CCDS11231.1, CCDS54098.1	17p13.2	2013-05-22			ENSG00000007216	ENSG00000007216		"""Solute carriers"""	10917	protein-coding gene	gene with protein product		604148				8967342, 10343111	Standard	NM_001145975		Approved	NaDC-1	uc010wan.2	Q13183	OTTHUMG00000132523	ENST00000314669.5:c.1686C>T	17.37:g.26824194C>T						SLC13A2_uc010wam.1_Silent_p.L518L|SLC13A2_uc010wan.1_Silent_p.L611L|SLC13A2_uc010wao.1_Silent_p.L519L|SLC13A2_uc002hbi.2_Silent_p.L491L	p.L562L	NM_003984	NP_003975	Q13183	S13A2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	12	1753	+	all_lung(13;0.000871)|Lung NSC(42;0.0027)		562			Helical; (Potential).		B2RBI9|B4DPL1|E7ETH5|Q4VAR7	Silent	SNP	ENST00000314669.5	37	c.1686C>T	CCDS11231.1																																																																																				0.612	SLC13A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255722.1		NM_003984		60	87	0	0	0	1	0	60	87		
PHF12	57649	broad.mit.edu	37	17	27246266	27246266	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:27246266C>G	ENST00000332830.4	-	6	1674	c.864G>C	c.(862-864)caG>caC	p.Q288H	PHF12_ENST00000268756.3_Missense_Mutation_p.Q288H|PHF12_ENST00000582655.1_5'UTR|PHF12_ENST00000577226.1_Missense_Mutation_p.Q288H	NM_001033561.1	NP_001028733.1			PHD finger protein 12											breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			AATAGTCACACTGGATGAGAG	0.502																																						uc002hdg.1		NaN																	0				ovary(1)	1						c.(862-864)CAG>CAC		PHD finger protein 12 isoform 1							73.0	59.0	63.0					17																	27246266		2203	4300	6503	SO:0001583	missense	57649				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding	g.chr17:27246266C>G	AB040956	CCDS11247.1, CCDS32598.1	17q11.2	2013-01-28			ENSG00000109118	ENSG00000109118		"""Zinc fingers, PHD-type"""	20816	protein-coding gene	gene with protein product						11390640	Standard	XM_005258015		Approved	PF1, KIAA1523	uc002hdg.1	Q96QT6	OTTHUMG00000132676	ENST00000332830.4:c.864G>C	17.37:g.27246266C>G	ENSP00000329933:p.Gln288His					PHF12_uc010wbb.1_Missense_Mutation_p.Q270H|PHF12_uc002hdi.1_Missense_Mutation_p.Q284H|PHF12_uc002hdj.1_Missense_Mutation_p.Q288H|PHF12_uc010crw.1_5'UTR|PHF12_uc002hdh.1_Missense_Mutation_p.Q71H	p.Q288H	NM_001033561	NP_001028733	Q96QT6	PHF12_HUMAN	Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)		6	1394	-	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		288			PHD-type 2; atypical.			Missense_Mutation	SNP	ENST00000332830.4	37	c.864G>C	CCDS32598.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.681854	0.88542	.	.	ENSG00000109118	ENST00000332830;ENST00000378879;ENST00000268756	T;T;T	0.32988	1.43;1.43;1.43	5.65	4.66	0.58398	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.48277	0.1491	L	0.54908	1.71	0.80722	D	1	D;D;D;D;D	0.89917	0.997;0.997;0.999;1.0;0.997	D;D;D;D;D	0.87578	0.997;0.995;0.998;0.998;0.997	T	0.37033	-0.9723	10	0.33940	T	0.23	-16.4537	12.5296	0.56106	0.0:0.9158:0.0:0.0842	.	270;288;288;288;288	B4DFE2;Q96QT6-2;Q2TAK2;C9J9G2;Q96QT6	.;.;.;.;PHF12_HUMAN	H	288	ENSP00000329933:Q288H;ENSP00000368157:Q288H;ENSP00000268756:Q288H	ENSP00000268756:Q288H	Q	-	3	2	PHF12	24270392	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.031000	0.57267	1.336000	0.45506	0.555000	0.69702	CAG		0.502	PHF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255941.1		NM_020889		7	29	0	0	0	1	0	7	29		
ABHD15	116236	broad.mit.edu	37	17	27893107	27893107	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:27893107C>A	ENST00000307201.4	-	1	1048	c.878G>T	c.(877-879)aGc>aTc	p.S293I	TP53I13_ENST00000301057.7_5'Flank|RP11-68I3.2_ENST00000581474.1_RNA	NM_198147.2	NP_937790.2	Q6UXT9	ABH15_HUMAN	abhydrolase domain containing 15	293						extracellular region (GO:0005576)|membrane (GO:0016020)	hydrolase activity (GO:0016787)			breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	10						TACCCACCTGCTGAGGGCGAT	0.617																																						uc002hed.1		NaN																	0					0						c.(877-879)AGC>ATC		abhydrolase domain containing 15 precursor							34.0	40.0	38.0					17																	27893107		2194	4294	6488	SO:0001583	missense	116236					extracellular region	carboxylesterase activity	g.chr17:27893107C>A	AK056717	CCDS32602.1	17q11.2	2009-11-20			ENSG00000168792	ENSG00000168792		"""Abhydrolase domain containing"""	26971	protein-coding gene	gene with protein product						12975309	Standard	NM_198147		Approved		uc002hed.2	Q6UXT9		ENST00000307201.4:c.878G>T	17.37:g.27893107C>A	ENSP00000302657:p.Ser293Ile					TP53I13_uc002hee.2_5'Flank	p.S293I	NM_198147	NP_937790	Q6UXT9	ABH15_HUMAN			1	942	-			293					Q96EC5	Missense_Mutation	SNP	ENST00000307201.4	37	c.878G>T	CCDS32602.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.956805	0.73902	.	.	ENSG00000168792	ENST00000307201	T	0.72167	-0.63	4.79	4.79	0.61399	.	0.095494	0.64402	D	0.000001	T	0.74489	0.3723	L	0.57536	1.79	0.80722	D	1	D	0.53312	0.959	P	0.49829	0.623	T	0.77688	-0.2494	10	0.56958	D	0.05	.	16.5899	0.84762	0.0:1.0:0.0:0.0	.	293	Q6UXT9	ABH15_HUMAN	I	293	ENSP00000302657:S293I	ENSP00000302657:S293I	S	-	2	0	ABHD15	24917233	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.423000	0.66458	2.478000	0.83669	0.561000	0.74099	AGC		0.617	ABHD15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447796.2		NM_198147		16	49	1	0	1.33834e-09	1	1.42971e-09	16	49		
EFCAB5	374786	broad.mit.edu	37	17	28380875	28380875	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:28380875G>T	ENST00000394835.3	+	10	2095	c.1903G>T	c.(1903-1905)Gaa>Taa	p.E635*	EFCAB5_ENST00000541045.1_Nonsense_Mutation_p.E292*|EFCAB5_ENST00000394832.2_Nonsense_Mutation_p.E635*|EFCAB5_ENST00000536908.2_Nonsense_Mutation_p.E579*|EFCAB5_ENST00000320856.5_Nonsense_Mutation_p.E635*|EFCAB5_ENST00000378738.3_Nonsense_Mutation_p.E635*	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	635							calcium ion binding (GO:0005509)			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						GTCAGCTGCAGAACAGGGATC	0.443																																						uc002het.2		NaN																	0				ovary(1)|skin(1)	2						c.(1903-1905)GAA>TAA		EF-hand calcium binding domain 5 isoform a							193.0	183.0	186.0					17																	28380875		2039	4195	6234	SO:0001587	stop_gained	374786						calcium ion binding	g.chr17:28380875G>T	AL833911	CCDS11254.2, CCDS54103.1	17q11.2	2013-01-10			ENSG00000176927	ENSG00000176927		"""EF-hand domain containing"""	24801	protein-coding gene	gene with protein product							Standard	NM_198529		Approved	FLJ46247	uc002het.3	A4FU69	OTTHUMG00000132753	ENST00000394835.3:c.1903G>T	17.37:g.28380875G>T	ENSP00000378312:p.Glu635*					EFCAB5_uc010wbi.1_Nonsense_Mutation_p.E378*|EFCAB5_uc010wbj.1_Nonsense_Mutation_p.E579*|EFCAB5_uc010wbk.1_Nonsense_Mutation_p.E292*|EFCAB5_uc010csd.2_RNA|EFCAB5_uc010cse.2_Nonsense_Mutation_p.E514*|EFCAB5_uc010csf.2_Nonsense_Mutation_p.E514*	p.E635*	NM_198529	NP_940931	A4FU69	EFCB5_HUMAN			10	2095	+			635					B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Nonsense_Mutation	SNP	ENST00000394835.3	37	c.1903G>T	CCDS11254.2	.	.	.	.	.	.	.	.	.	.	G	16.89	3.246510	0.59103	.	.	ENSG00000176927	ENST00000536908;ENST00000534836;ENST00000541045;ENST00000394835;ENST00000320856;ENST00000394832;ENST00000378738;ENST00000423598;ENST00000419434	.	.	.	6.08	5.1	0.69264	.	0.105490	0.40728	N	0.001038	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	-4.4321	11.6822	0.51463	0.0828:0.0:0.9172:0.0	.	.	.	.	X	579;378;292;635;635;635;635;579;441	.	ENSP00000322003:E635X	E	+	1	0	EFCAB5	25405001	0.865000	0.29922	0.206000	0.23566	0.010000	0.07245	2.842000	0.48230	2.894000	0.99253	0.655000	0.94253	GAA		0.443	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256120.4		NM_198529		23	101	1	0	8.04996e-18	1	8.92782e-18	23	101		
MYO1D	4642	broad.mit.edu	37	17	30986161	30986161	+	Missense_Mutation	SNP	C	C	G	rs563094839		TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:30986161C>G	ENST00000318217.5	-	17	2621	c.2317G>C	c.(2317-2319)Gag>Cag	p.E773Q	RP11-220C2.1_ENST00000582272.1_RNA|MYO1D_ENST00000579584.1_Missense_Mutation_p.E773Q|MYO1D_ENST00000394649.4_Missense_Mutation_p.E685Q	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	773					early endosome to recycling endosome transport (GO:0061502)|negative regulation of phosphatase activity (GO:0010923)	axolemma (GO:0030673)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|smooth endoplasmic reticulum (GO:0005790)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.E773K(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			AGGGCCTCCTCAAAACGGCGA	0.517											OREG0024311	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	1	0.000199681	0.0008	0.0	5008	,	,		19880	0.0		0.0	False		,,,				2504	0.0					uc002hho.1		NaN																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(2317-2319)GAG>CAG		myosin ID							115.0	99.0	104.0					17																	30986161		2203	4300	6503	SO:0001583	missense	4642					myosin complex	actin binding|ATP binding|calmodulin binding	g.chr17:30986161C>G	AB018270	CCDS32615.1	17q11-q12	2014-06-12				ENSG00000176658		"""Myosins / Myosin superfamily : Class I"""	7598	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 108"""	606539				8884266	Standard	NM_015194		Approved	KIAA0727, myr4, PPP1R108	uc002hho.1	O94832		ENST00000318217.5:c.2317G>C	17.37:g.30986161C>G	ENSP00000324527:p.Glu773Gln		OREG0024311	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	821	MYO1D_uc002hhp.1_Missense_Mutation_p.E773Q	p.E773Q	NM_015194	NP_056009	O94832	MYO1D_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0362)		17	2329	-			773					A6H8V3|Q8NHP9	Missense_Mutation	SNP	ENST00000318217.5	37	c.2317G>C	CCDS32615.1	.	.	.	.	.	.	.	.	.	.	C	2.346	-0.349920	0.05173	.	.	ENSG00000176658	ENST00000318217	D	0.87256	-2.23	6.07	4.05	0.47172	.	0.180420	0.25714	N	0.028794	T	0.79167	0.4400	L	0.28458	0.855	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.70238	-0.4927	10	0.13470	T	0.59	.	14.5651	0.68171	0.0:0.5766:0.4234:0.0	.	684;773	Q7Z3N6;O94832	.;MYO1D_HUMAN	Q	773	ENSP00000324527:E773Q	ENSP00000324527:E773Q	E	-	1	0	MYO1D	28010274	0.998000	0.40836	0.725000	0.30721	0.010000	0.07245	3.930000	0.56522	0.868000	0.35678	-0.176000	0.13171	GAG		0.517	MYO1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447457.1				15	65	0	0	0	1	0	15	65		
MYO1D	4642	broad.mit.edu	37	17	30986208	30986208	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:30986208C>A	ENST00000318217.5	-	17	2574	c.2270G>T	c.(2269-2271)gGg>gTg	p.G757V	RP11-220C2.1_ENST00000582272.1_RNA|MYO1D_ENST00000579584.1_Missense_Mutation_p.G757V|MYO1D_ENST00000394649.4_Missense_Mutation_p.G669V	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	757					early endosome to recycling endosome transport (GO:0061502)|negative regulation of phosphatase activity (GO:0010923)	axolemma (GO:0030673)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|smooth endoplasmic reticulum (GO:0005790)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			CACGTGCTTCCCGTAGTCTCG	0.537											OREG0024311	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002hho.1		NaN																	0				large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(2269-2271)GGG>GTG		myosin ID							154.0	130.0	138.0					17																	30986208		2203	4300	6503	SO:0001583	missense	4642					myosin complex	actin binding|ATP binding|calmodulin binding	g.chr17:30986208C>A	AB018270	CCDS32615.1	17q11-q12	2014-06-12				ENSG00000176658		"""Myosins / Myosin superfamily : Class I"""	7598	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 108"""	606539				8884266	Standard	NM_015194		Approved	KIAA0727, myr4, PPP1R108	uc002hho.1	O94832		ENST00000318217.5:c.2270G>T	17.37:g.30986208C>A	ENSP00000324527:p.Gly757Val		OREG0024311	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	821	MYO1D_uc002hhp.1_Missense_Mutation_p.G757V	p.G757V	NM_015194	NP_056009	O94832	MYO1D_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0362)		17	2282	-			757					A6H8V3|Q8NHP9	Missense_Mutation	SNP	ENST00000318217.5	37	c.2270G>T	CCDS32615.1	.	.	.	.	.	.	.	.	.	.	C	33	5.224229	0.95139	.	.	ENSG00000176658	ENST00000318217	D	0.87256	-2.23	6.07	6.07	0.98685	.	0.000000	0.40302	U	0.001135	D	0.94155	0.8125	M	0.85630	2.765	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.75020	0.985;0.985	D	0.94054	0.7320	10	0.62326	D	0.03	.	18.1532	0.89682	0.0:1.0:0.0:0.0	.	668;757	Q7Z3N6;O94832	.;MYO1D_HUMAN	V	757	ENSP00000324527:G757V	ENSP00000324527:G757V	G	-	2	0	MYO1D	28010321	1.000000	0.71417	0.993000	0.49108	0.955000	0.61496	7.745000	0.85046	2.885000	0.99019	0.655000	0.94253	GGG		0.537	MYO1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447457.1				23	93	1	0	1.85244e-09	1	1.9727e-09	23	93		
SLFN12	55106	broad.mit.edu	37	17	33749640	33749640	+	Silent	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:33749640G>C	ENST00000394562.1	-	4	931	c.408C>G	c.(406-408)gtC>gtG	p.V136V	SLFN12_ENST00000452764.3_Silent_p.V136V|SLFN12_ENST00000304905.5_Silent_p.V136V|SLFN12_ENST00000460530.1_5'Flank			Q8IYM2	SLN12_HUMAN	schlafen family member 12	136							ATP binding (GO:0005524)			breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TGGCATTCATGACTTTTGCAG	0.428																																						uc002hji.3		NaN																	0				skin(1)	1						c.(406-408)GTC>GTG		schlafen family member 12							83.0	82.0	83.0					17																	33749640		2203	4300	6503	SO:0001819	synonymous_variant	55106						ATP binding	g.chr17:33749640G>C	AK001122	CCDS11295.1	17q12	2006-04-05			ENSG00000172123	ENSG00000172123			25500	protein-coding gene	gene with protein product		614955				12477932	Standard	NM_018042		Approved	FLJ10260	uc002hji.4	Q8IYM2	OTTHUMG00000132952	ENST00000394562.1:c.408C>G	17.37:g.33749640G>C						SLFN12_uc002hjj.3_Silent_p.V136V|SLFN12_uc010cts.2_Silent_p.V136V	p.V136V	NM_018042	NP_060512	Q8IYM2	SLN12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	2	785	-		Ovarian(249;0.17)	136					A8K711|Q9NP47	Silent	SNP	ENST00000394562.1	37	c.408C>G	CCDS11295.1																																																																																				0.428	SLFN12-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256491.1		NM_018042		22	54	0	0	0	1	0	22	54		
ACACA	31	broad.mit.edu	37	17	35468485	35468485	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:35468485G>C	ENST00000394406.2	-	52	6625	c.6435C>G	c.(6433-6435)atC>atG	p.I2145M	ACACA_ENST00000353139.5_Missense_Mutation_p.I2182M|ACACA_ENST00000360679.3_Missense_Mutation_p.I2087M|ACACA_ENST00000361253.5_Missense_Mutation_p.I271M|ACACA_ENST00000335166.5_Missense_Mutation_p.I2067M	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	2145	Carboxyltransferase.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CAGCCAAGTGGATGTAGACTG	0.502																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	uc002hnm.2		NaN																	0				large_intestine(1)|ovary(1)	2						c.(6433-6435)ATC>ATG		acetyl-Coenzyme A carboxylase alpha isoform 2	Biotin(DB00121)						165.0	137.0	147.0					17																	35468485		2203	4300	6503	SO:0001583	missense	31				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr17:35468485G>C	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.6435C>G	17.37:g.35468485G>C	ENSP00000377928:p.Ile2145Met					ACACA_uc002hnk.2_Missense_Mutation_p.I2067M|ACACA_uc002hnl.2_Missense_Mutation_p.I2087M|ACACA_uc002hnn.2_Missense_Mutation_p.I2145M|ACACA_uc002hno.2_Missense_Mutation_p.I2182M|ACACA_uc010cuy.2_Missense_Mutation_p.I790M|ACACA_uc010wdb.1_Missense_Mutation_p.I183M|ACACA_uc010wdc.1_Missense_Mutation_p.I271M	p.I2145M	NM_198836	NP_942133	Q13085	ACACA_HUMAN			52	6626	-		Breast(25;0.00157)|Ovarian(249;0.15)	2145			Carboxyltransferase.		B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	ENST00000394406.2	37	c.6435C>G	CCDS11317.1	.	.	.	.	.	.	.	.	.	.	G	7.482	0.648895	0.14516	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166;ENST00000427330;ENST00000361253	T;T;T;T;T	0.31769	1.48;1.48;1.48;1.48;1.48	5.67	3.65	0.41850	Acetyl-coenzyme A carboxyltransferase, C-terminal (1);Carboxyl transferase (1);	0.184330	0.56097	D	0.000024	T	0.20820	0.0501	L	0.29908	0.895	0.80722	D	1	B;B;B;B;B	0.15930	0.015;0.001;0.0;0.002;0.001	B;B;B;B;B	0.22386	0.039;0.006;0.003;0.013;0.008	T	0.05178	-1.0901	10	0.45353	T	0.12	-15.8689	6.2629	0.20910	0.2258:0.2016:0.5725:0.0	.	183;844;2182;2145;2087	B4DIG6;F8W6G0;Q13085-4;Q13085;Q13085-2	.;.;.;ACACA_HUMAN;.	M	2182;2087;2145;2169;2067;844;271	ENSP00000344789:I2182M;ENSP00000353898:I2087M;ENSP00000377928:I2145M;ENSP00000335323:I2067M;ENSP00000354565:I271M	ENSP00000335323:I2067M	I	-	3	3	ACACA	32542598	0.115000	0.22152	1.000000	0.80357	0.998000	0.95712	-0.013000	0.12678	0.706000	0.31912	0.655000	0.94253	ATC		0.502	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1		NM_198836		29	47	0	0	0	1	0	29	47		
TADA2A	6871	broad.mit.edu	37	17	35800675	35800675	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:35800675C>T	ENST00000394395.2	+	6	527	c.354C>T	c.(352-354)ttC>ttT	p.F118F	TADA2A_ENST00000591992.1_3'UTR|TADA2A_ENST00000225396.6_Silent_p.F118F|TADA2A_ENST00000417170.1_Silent_p.F118F|TADA2A_ENST00000586023.1_Silent_p.F118F	NM_001166105.1	NP_001159577.1	O75478	TAD2A_HUMAN	transcriptional adaptor 2A	118	SANT. {ECO:0000255|PROSITE- ProRule:PRU00624}.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|nucleus (GO:0005634)|PCAF complex (GO:0000125)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|zinc ion binding (GO:0008270)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(1)	13						TGAAGCATTTCATCAATAACC	0.458																																						uc002hnt.2		NaN																	0				breast(3)|skin(1)	4						c.(352-354)TTC>TTT		transcriptional adaptor 2A isoform a							131.0	112.0	119.0					17																	35800675		2203	4300	6503	SO:0001819	synonymous_variant	6871				histone H3 acetylation|transcription from RNA polymerase II promoter	chromosome|PCAF complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|zinc ion binding	g.chr17:35800675C>T	AK022767	CCDS11319.1, CCDS45656.1	17q12-q21	2014-04-10	2009-10-02	2009-10-02	ENSG00000108264	ENSG00000276234			11531	protein-coding gene	gene with protein product		602276	"""transcriptional adaptor 2 (ADA2 homolog, yeast)-like"""	TADA2L		8552087	Standard	XM_006722043		Approved	ADA2, hADA2, ADA2A	uc002hnt.3	O75478	OTTHUMG00000188469	ENST00000394395.2:c.354C>T	17.37:g.35800675C>T						TADA2A_uc002hnu.1_Silent_p.F118F|TADA2A_uc002hnv.2_Silent_p.F118F|TADA2A_uc010wdd.1_Silent_p.F118F|TADA2A_uc002hnw.2_Silent_p.F17F|TADA2A_uc010cvb.2_5'UTR	p.F118F	NM_001488	NP_001479	O75478	TAD2A_HUMAN			6	511	+			118			SANT.		A8MVD0|B3KMU9|Q9BVJ0|Q9UCW2|Q9UP49	Silent	SNP	ENST00000394395.2	37	c.354C>T	CCDS11319.1																																																																																				0.458	TADA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256677.3		NM_001488		12	39	0	0	0	1	0	12	39		
SOCS7	30837	broad.mit.edu	37	17	36523881	36523881	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:36523881C>T	ENST00000577233.1	+	6	1308	c.1308C>T	c.(1306-1308)ctC>ctT	p.L436L	SOCS7_ENST00000331159.5_Silent_p.L402L	NM_014598.2	NP_055413.1	O14512	SOCS7_HUMAN	suppressor of cytokine signaling 7	436	Mediates interaction with SORBS3.|SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				fat cell differentiation (GO:0045444)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|negative regulation of signal transduction (GO:0009968)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)			central_nervous_system(1)|endometrium(1)|kidney(1)|prostate(1)|skin(5)	9	Breast(7;3.47e-17)					TCCTGAGCCTCAGTTTCCGAT	0.483																																						uc002hqa.2		NaN																	0				skin(1)	1						c.(1306-1308)CTC>CTT		suppressor of cytokine signaling 7							185.0	153.0	164.0					17																	36523881		2203	4300	6503	SO:0001819	synonymous_variant	30837				intracellular signal transduction|negative regulation of signal transduction|regulation of growth	cytoplasm|nucleus|plasma membrane	protein binding|SH3 domain binding	g.chr17:36523881C>T	AB005216	CCDS32637.1	17q12	2014-08-12			ENSG00000274211	ENSG00000274211		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	29846	protein-coding gene	gene with protein product	"""Nck, Ash and phospholipase C binding protein"", ""NCK-associated protein 4"""	608788				9344857, 12076535	Standard	XM_005257264		Approved	NAP4, NCKAP4	uc002hqa.3	O14512	OTTHUMG00000188546	ENST00000577233.1:c.1308C>T	17.37:g.36523881C>T						SOCS7_uc010cvl.2_Silent_p.L402L|SOCS7_uc002hqb.2_RNA	p.L436L	NM_014598	NP_055413	O14512	SOCS7_HUMAN			6	1431	+	Breast(7;3.47e-17)		436			Mediates interaction with SORBS3.|SH2.		A2VCU2|Q0IJ63	Silent	SNP	ENST00000577233.1	37	c.1308C>T	CCDS32637.1																																																																																				0.483	SOCS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440486.4		XM_371052		17	42	0	0	0	1	0	17	42		
IKZF3	22806	broad.mit.edu	37	17	37949123	37949123	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:37949123G>A	ENST00000346872.3	-	4	288	c.227C>T	c.(226-228)cCc>cTc	p.P76L	IKZF3_ENST00000351680.3_Missense_Mutation_p.P76L|IKZF3_ENST00000394189.2_Intron|IKZF3_ENST00000350532.3_Missense_Mutation_p.P76L|IKZF3_ENST00000377958.2_Intron|IKZF3_ENST00000377945.3_Missense_Mutation_p.P76L|IKZF3_ENST00000439167.2_Missense_Mutation_p.P42L|IKZF3_ENST00000346243.3_Missense_Mutation_p.P76L|IKZF3_ENST00000535189.1_Missense_Mutation_p.P42L|IKZF3_ENST00000377952.2_Intron|IKZF3_ENST00000439016.2_Missense_Mutation_p.P76L|IKZF3_ENST00000377944.3_Intron|IKZF3_ENST00000467757.1_Missense_Mutation_p.P76L	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	IKAROS family zinc finger 3 (Aiolos)	76					B cell activation (GO:0042113)|mesoderm development (GO:0007498)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of B cell proliferation (GO:0030888)|regulation of lymphocyte differentiation (GO:0045619)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			ATTTCCCATGGGTTCTGACTT	0.353																																						uc002hsu.2		NaN																	0				lung(2)|kidney(2)|skin(2)	6						c.(226-228)CCC>CTC		aiolos isoform 1							134.0	123.0	127.0					17																	37949123		2203	4300	6503	SO:0001583	missense	22806				B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:37949123G>A	AF129512	CCDS11346.1, CCDS11347.1, CCDS11348.1, CCDS11349.1, CCDS11350.1, CCDS11351.1, CCDS58539.1, CCDS58540.1, CCDS58541.1, CCDS58542.1, CCDS58543.1, CCDS58544.1, CCDS58545.1, CCDS74055.1	17q11.2	2013-01-08	2006-08-25	2006-08-25	ENSG00000161405	ENSG00000161405		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13178	protein-coding gene	gene with protein product		606221	"""zinc finger protein, subfamily 1A, 3 (Aiolos)"""	ZNFN1A3		9155026, 10552935	Standard	NM_012481		Approved	Aiolos	uc002hsu.4	Q9UKT9	OTTHUMG00000133250	ENST00000346872.3:c.227C>T	17.37:g.37949123G>A	ENSP00000344544:p.Pro76Leu					IKZF3_uc002htd.2_Missense_Mutation_p.P42L|IKZF3_uc010cwd.2_Intron|IKZF3_uc002hsv.2_Missense_Mutation_p.P42L|IKZF3_uc010cwe.2_Missense_Mutation_p.P76L|IKZF3_uc010cwf.2_Intron|IKZF3_uc010cwg.2_Intron|IKZF3_uc002hsw.2_Missense_Mutation_p.P76L|IKZF3_uc002hsx.2_Missense_Mutation_p.P76L|IKZF3_uc002hsy.2_Missense_Mutation_p.P76L|IKZF3_uc002hsz.2_Missense_Mutation_p.P76L|IKZF3_uc002hta.2_Missense_Mutation_p.P76L|IKZF3_uc002htb.2_RNA|IKZF3_uc010cwh.2_Intron|IKZF3_uc002htc.2_5'UTR	p.P76L	NM_012481	NP_036613	Q9UKT9	IKZF3_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)		4	289	-	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		76					B4DVV5|Q69BL6|Q69BL7|Q69BL8|Q69BL9|Q69BM0|Q69BM1|Q69BM2|Q69BM3|Q69BM5|Q8N574|Q8WWQ9|Q8WWR0|Q8WWR1|Q8WWR2|Q8WWR3	Missense_Mutation	SNP	ENST00000346872.3	37	c.227C>T	CCDS11346.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.75|17.75	3.466992|3.466992	0.63625|0.63625	.|.	.|.	ENSG00000161405|ENSG00000161405	ENST00000488188;ENST00000346872;ENST00000377945;ENST00000535189;ENST00000351680;ENST00000346243;ENST00000350532;ENST00000467757|ENST00000439167;ENST00000439016	T;T;T;T;T;T;T|.	0.06687|.	3.34;3.46;3.29;3.34;3.37;3.27;4.3|.	5.66|5.66	5.66|5.66	0.87406|0.87406	.|.	0.103353|0.103353	0.43747|0.43747	D|N	0.000538|0.000538	T|T	0.52533|0.52533	0.1740|0.1740	L|L	0.27053|0.27053	0.805|0.805	0.34548|0.34548	D|D	0.71096|0.71096	B;P;D;D;B;D;D;D;D|.	0.89917|.	0.001;0.692;0.985;1.0;0.029;0.99;0.985;0.992;0.975|.	B;B;P;D;B;P;P;P;P|.	0.87578|.	0.005;0.39;0.853;0.998;0.023;0.899;0.853;0.853;0.717|.	T|T	0.61691|0.61691	-0.7011|-0.7011	10|7	0.49607|0.44086	T|T	0.09|0.13	-6.6829|-6.6829	17.0904|17.0904	0.86620|0.86620	0.0:0.1263:0.8737:0.0|0.0:0.1263:0.8737:0.0	.|.	76;42;76;76;76;76;76;42;76|.	Q9UKT9-13;Q9UKT9-7;Q9UKT9-6;Q9UKT9-5;Q9UKT9-4;Q9UKT9-2;Q9UKT9-3;Q9UKT9-8;Q9UKT9|.	.;.;.;.;.;.;.;.;IKZF3_HUMAN|.	L|S	76;76;76;42;76;76;76;76|30	ENSP00000344544:P76L;ENSP00000367180:P76L;ENSP00000438972:P42L;ENSP00000345622:P76L;ENSP00000341977:P76L;ENSP00000344471:P76L;ENSP00000420463:P76L|.	ENSP00000341977:P76L|ENSP00000403027:P30S	P|P	-|-	2|1	0|0	IKZF3|IKZF3	35202649|35202649	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.961000|0.961000	0.63080|0.63080	3.139000|3.139000	0.50577|0.50577	2.832000|2.832000	0.97577|0.97577	0.655000|0.655000	0.94253|0.94253	CCC|CCA		0.353	IKZF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257004.2		NM_012481		29	47	0	0	0	1	0	29	47		
HCRT	3060	broad.mit.edu	37	17	40336367	40336367	+	Silent	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:40336367G>C	ENST00000293330.1	-	2	287	c.201C>G	c.(199-201)ggC>ggG	p.G67G		NM_001524.1	NP_001515.1	O43612	OREX_HUMAN	hypocretin (orexin) neuropeptide precursor	67					eating behavior (GO:0042755)|negative regulation of DNA replication (GO:0008156)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of transmission of nerve impulse (GO:0051970)|neuropeptide signaling pathway (GO:0007218)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of transmission of nerve impulse (GO:0051971)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)|secretory granule (GO:0030141)|synaptic vesicle (GO:0008021)				breast(1)|central_nervous_system(1)	2		all_cancers(22;1.39e-06)|all_epithelial(22;9.98e-06)|Breast(137;0.000143)|Ovarian(249;0.0221)|Myeloproliferative disorder(1115;0.0255)|Colorectal(1115;0.069)		BRCA - Breast invasive adenocarcinoma(366;0.124)		ACCTCCGCTTGCCCAGCGTGA	0.726																																						uc002hzc.1		NaN																	0					0						c.(199-201)GGC>GGG		orexin precursor							4.0	6.0	5.0					17																	40336367		1973	3926	5899	SO:0001819	synonymous_variant	3060				neuropeptide signaling pathway	cell junction|extracellular region|rough endoplasmic reticulum|synaptic vesicle		g.chr17:40336367G>C	AF041240	CCDS11421.1	17q21	2013-02-28				ENSG00000161610		"""Endogenous ligands"""	4847	protein-coding gene	gene with protein product	"""prepro-orexin"""	602358				9419374, 9491897	Standard	NM_001524		Approved	PPOX, OX	uc002hzc.1	O43612		ENST00000293330.1:c.201C>G	17.37:g.40336367G>C							p.G67G	NM_001524	NP_001515	O43612	OREX_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.124)	2	288	-		all_cancers(22;1.39e-06)|all_epithelial(22;9.98e-06)|Breast(137;0.000143)|Ovarian(249;0.0221)|Myeloproliferative disorder(1115;0.0255)|Colorectal(1115;0.069)	67						Silent	SNP	ENST00000293330.1	37	c.201C>G	CCDS11421.1																																																																																				0.726	HCRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449792.1		NM_001524		6	4	0	0	0	1	0	6	4		
DBF4B	80174	broad.mit.edu	37	17	42828010	42828010	+	Missense_Mutation	SNP	G	G	C	rs367600377		TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:42828010G>C	ENST00000315005.3	+	14	1375	c.1237G>C	c.(1237-1239)Gat>Cat	p.D413H	DBF4B_ENST00000393547.2_Missense_Mutation_p.D413H	NM_145663.2	NP_663696.1	Q8NFT6	DBF4B_HUMAN	DBF4 zinc finger B	413					cell cycle (GO:0007049)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of protein kinase activity (GO:0045860)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				AGAATCACTAGATGGTGTGAT	0.607																																						uc002ihf.2		NaN																	0					0						c.(1237-1239)GAT>CAT		DBF4 homolog B isoform 1		G	HIS/ASP,HIS/ASP	0,4406		0,0,2203	54.0	53.0	53.0		1237,1237	-1.5	0.0	17		53	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	DBF4B	NM_145663.2,NM_025104.3	81,81	0,1,6502	CC,CG,GG		0.0116,0.0,0.0077	benign,benign	413/616,413/432	42828010	1,13005	2203	4300	6503	SO:0001583	missense	80174				cell cycle	nucleus	nucleic acid binding|zinc ion binding	g.chr17:42828010G>C	AF465820	CCDS11485.1, CCDS45706.1, CCDS45706.2	17q21.31	2014-02-17	2014-02-17		ENSG00000161692	ENSG00000161692		"""Zinc fingers, DBF-type"""	17883	protein-coding gene	gene with protein product	"""chiffon homolog B (Drosophila)"", ""zinc finger, DBF-type containing 1B"""	611661	"""DBF4 homolog B (S. cerevisiae)"""			15668232	Standard	NM_145663		Approved	FLJ13087, DRF1, ASKL1, chifb, ZDBF1B	uc002ihf.3	Q8NFT6	OTTHUMG00000165717	ENST00000315005.3:c.1237G>C	17.37:g.42828010G>C	ENSP00000323663:p.Asp413His					DBF4B_uc010wjc.1_Missense_Mutation_p.D397H	p.D413H	NM_145663	NP_663696	Q8NFT6	DBF4B_HUMAN			14	1450	+		Prostate(33;0.0322)	413					D3DX56|Q8TEX0|Q96B19|Q9H912	Missense_Mutation	SNP	ENST00000315005.3	37	c.1237G>C	CCDS11485.1	.	.	.	.	.	.	.	.	.	.	G	7.859	0.725619	0.15439	0.0	1.16E-4	ENSG00000161692	ENST00000393547;ENST00000315005	T;T	0.58797	0.61;0.31	2.21	-1.52	0.08637	.	41.712400	0.00166	N	0.000000	T	0.42988	0.1227	N	0.14661	0.345	0.09310	N	1	B;B	0.11235	0.002;0.004	B;B	0.06405	0.002;0.002	T	0.43893	-0.9363	10	0.66056	D	0.02	.	9.9379	0.41563	0.0:0.6313:0.3687:0.0	.	413;413	Q8NFT6-2;Q8NFT6	.;DBF4B_HUMAN	H	413	ENSP00000377178:D413H;ENSP00000323663:D413H	ENSP00000323663:D413H	D	+	1	0	DBF4B	40183536	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.221000	0.09202	-0.275000	0.09219	-0.502000	0.04539	GAT		0.607	DBF4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385930.1		NM_025104		13	40	0	0	0	1	0	13	40		
KANSL1	284058	broad.mit.edu	37	17	44159875	44159875	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:44159875C>G	ENST00000262419.6	-	4	1935	c.1465G>C	c.(1465-1467)Gag>Cag	p.E489Q	KANSL1_ENST00000572904.1_Missense_Mutation_p.E489Q|KANSL1_ENST00000393476.3_5'UTR|KANSL1_ENST00000574590.1_Missense_Mutation_p.E489Q|KANSL1_ENST00000575318.1_Missense_Mutation_p.E489Q|KANSL1_ENST00000432791.1_Missense_Mutation_p.E489Q	NM_001193466.1	NP_001180395	Q7Z3B3	KANL1_HUMAN	KAT8 regulatory NSL complex subunit 1	489					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											GTTGTATGCTCTGGGGGAGGT	0.398																																						uc002ikb.2		NaN																	0				skin(2)	2						c.(1465-1467)GAG>CAG		hypothetical protein LOC284058							80.0	80.0	80.0					17																	44159875		2203	4300	6503	SO:0001583	missense	284058					MLL1 complex	protein binding	g.chr17:44159875C>G	BX538006	CCDS11503.1, CCDS11503.2, CCDS74084.1	17q21.31	2012-02-20	2012-02-20	2012-02-20	ENSG00000120071	ENSG00000120071			24565	protein-coding gene	gene with protein product	"""centromere protein 36"""	612452	"""KIAA1267"""	KIAA1267		10574462	Standard	NM_015443		Approved	DKFZP727C091, MSL1v1, CENP-36, NSL1	uc002ikd.3	Q7Z3B3		ENST00000262419.6:c.1465G>C	17.37:g.44159875C>G	ENSP00000262419:p.Glu489Gln					KIAA1267_uc002ikc.2_Missense_Mutation_p.E489Q|KIAA1267_uc002ikd.2_Missense_Mutation_p.E489Q|KIAA1267_uc010dav.2_Missense_Mutation_p.E489Q	p.E489Q	NM_015443	NP_056258	Q7Z3B3	K1267_HUMAN			3	1550	-		Melanoma(429;0.211)	489					A8K5E4|Q6AW85|Q8IYH1|Q9BRH0|Q9NTE7|Q9UFT0|Q9ULF3	Missense_Mutation	SNP	ENST00000262419.6	37	c.1465G>C	CCDS11503.1	.	.	.	.	.	.	.	.	.	.	C	14.33	2.503073	0.44558	.	.	ENSG00000120071	ENST00000262419;ENST00000432791	T;T	0.50813	0.73;0.73	4.8	4.8	0.61643	.	0.580762	0.18882	N	0.128542	T	0.44201	0.1282	L	0.39898	1.24	0.80722	D	1	B;B	0.29301	0.241;0.214	B;B	0.37015	0.136;0.239	T	0.31916	-0.9926	10	0.34782	T	0.22	-6.3779	13.5172	0.61547	0.0:1.0:0.0:0.0	.	489;489	C9JHY2;Q7Z3B3	.;K1267_HUMAN	Q	489	ENSP00000262419:E489Q;ENSP00000387393:E489Q	ENSP00000262419:E489Q	E	-	1	0	KIAA1267	41515694	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.533000	0.53561	2.652000	0.90054	0.555000	0.69702	GAG		0.398	KANSL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440274.1		NM_015443		28	27	0	0	0	1	0	28	27		
COPZ2	51226	broad.mit.edu	37	17	46111232	46111232	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:46111232C>T	ENST00000006101.4	-	4	258	c.259G>A	c.(259-261)Gag>Aag	p.E87K	COPZ2_ENST00000584666.1_5'UTR	NM_016429.2	NP_057513.1	Q9P299	COPZ2_HUMAN	coatomer protein complex, subunit zeta 2	89					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	cis-Golgi network (GO:0005801)|COPI vesicle coat (GO:0030126)				lung(3)|upper_aerodigestive_tract(1)	4						CACTTACTCTCAGTCCGGCTG	0.483																																						uc002imy.2		NaN																	0					0						c.(265-267)GAG>AAG		coatomer protein complex, subunit zeta 2							78.0	82.0	81.0					17																	46111232		2052	4207	6259	SO:0001583	missense	51226				intracellular protein transport|vesicle-mediated transport	cis-Golgi network|COPI vesicle coat		g.chr17:46111232C>T	AB037938	CCDS74092.1	17q21.2	2008-07-18				ENSG00000005243			19356	protein-coding gene	gene with protein product	"""nonclathrin coat protein zeta-COP"", ""zeta2-COP"", ""zeta-2 coat protein"""	615526				11056392	Standard	NM_016429		Approved	MGC23008	uc002imy.3	Q9P299		ENST00000006101.4:c.259G>A	17.37:g.46111232C>T	ENSP00000006101:p.Glu87Lys						p.E89K	NM_016429	NP_057513	Q9P299	COPZ2_HUMAN			7	278	-			89						Missense_Mutation	SNP	ENST00000006101.4	37	c.265G>A		.	.	.	.	.	.	.	.	.	.	C	15.66	2.899898	0.52227	.	.	ENSG00000005243	ENST00000006101	.	.	.	5.59	5.59	0.84812	Longin-like (1);AP complex, mu/sigma subunit (1);	0.127940	0.49916	D	0.000130	T	0.62502	0.2433	L	0.47016	1.485	0.47245	D	0.999367	B	0.30179	0.271	B	0.35770	0.21	T	0.63690	-0.6580	9	0.72032	D	0.01	.	18.3509	0.90338	0.0:1.0:0.0:0.0	.	89	Q9P299	COPZ2_HUMAN	K	87	.	ENSP00000006101:E87K	E	-	1	0	COPZ2	43466231	1.000000	0.71417	1.000000	0.80357	0.503000	0.33858	6.238000	0.72350	2.635000	0.89317	0.643000	0.83706	GAG		0.483	COPZ2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_016429		7	5	0	0	0	1	0	7	5		
XYLT2	64132	broad.mit.edu	37	17	48431301	48431301	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:48431301G>T	ENST00000017003.2	+	2	495	c.446G>T	c.(445-447)gGc>gTc	p.G149V	XYLT2_ENST00000507602.1_Missense_Mutation_p.G149V	NM_022167.2	NP_071450.2	Q9H1B5	XYLT2_HUMAN	xylosyltransferase II	149					chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					AGCGTGGAGGGCGCCCCCCAG	0.687																																						uc002iqo.2		NaN																	0				pancreas(1)	1						c.(445-447)GGC>GTC		xylosyltransferase II							27.0	28.0	28.0					17																	48431301		2200	4296	6496	SO:0001583	missense	64132				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	g.chr17:48431301G>T	AJ277442	CCDS11563.1	17q21.33	2013-02-25			ENSG00000015532	ENSG00000015532	2.4.2.26		15517	protein-coding gene	gene with protein product	"""protein xylosyltransferase 2"""	608125				11099377	Standard	NM_022167		Approved	XT-II, PXYLT2	uc002iqo.3	Q9H1B5	OTTHUMG00000162057	ENST00000017003.2:c.446G>T	17.37:g.48431301G>T	ENSP00000017003:p.Gly149Val					XYLT2_uc010dbo.2_RNA	p.G149V	NM_022167	NP_071450	Q9H1B5	XYLT2_HUMAN			2	555	+	Breast(11;7.18e-19)		149			Lumenal (Potential).		Q6UY41|Q86V00	Missense_Mutation	SNP	ENST00000017003.2	37	c.446G>T	CCDS11563.1	.	.	.	.	.	.	.	.	.	.	G	15.89	2.967325	0.53507	.	.	ENSG00000015532	ENST00000017003;ENST00000507602	T;T	0.10382	3.46;2.88	4.38	4.38	0.52667	.	0.162750	0.53938	D	0.000046	T	0.20455	0.0492	L	0.42245	1.32	0.80722	D	1	D	0.67145	0.996	P	0.54664	0.758	T	0.01242	-1.1408	10	0.87932	D	0	-19.6102	17.1239	0.86709	0.0:0.0:1.0:0.0	.	149	Q9H1B5	XYLT2_HUMAN	V	149	ENSP00000017003:G149V;ENSP00000426501:G149V	ENSP00000017003:G149V	G	+	2	0	XYLT2	45786300	1.000000	0.71417	0.978000	0.43139	0.352000	0.29268	3.139000	0.50577	2.286000	0.76751	0.313000	0.20887	GGC		0.687	XYLT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367046.1		NM_022167		9	28	1	0	4.68919e-08	1	4.947e-08	9	28		
EPN3	55040	broad.mit.edu	37	17	48616645	48616645	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:48616645G>C	ENST00000268933.3	+	5	1439	c.860G>C	c.(859-861)aGa>aCa	p.R287T	EPN3_ENST00000537145.1_Missense_Mutation_p.R315T|RP11-94C24.8_ENST00000513017.1_RNA|EPN3_ENST00000541226.1_Missense_Mutation_p.R204T	NM_017957.2	NP_060427.2	Q9H201	EPN3_HUMAN	epsin 3	287						clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			AGAGAAGAGAGAAAGGAGGAG	0.582																																						uc002ira.3		NaN																	0				ovary(1)	1						c.(859-861)AGA>ACA		epsin 3							115.0	116.0	116.0					17																	48616645		2203	4300	6503	SO:0001583	missense	55040					clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm	lipid binding	g.chr17:48616645G>C	AF324241	CCDS11570.1	17q21.33	2008-07-18				ENSG00000049283			18235	protein-coding gene	gene with protein product		607264				10951261, 11359770	Standard	NM_017957		Approved	FLJ20778, MGC129899	uc002ira.4	Q9H201		ENST00000268933.3:c.860G>C	17.37:g.48616645G>C	ENSP00000268933:p.Arg287Thr					EPN3_uc010wms.1_Missense_Mutation_p.R315T|EPN3_uc010wmt.1_RNA|EPN3_uc010wmu.1_Missense_Mutation_p.R260T	p.R287T	NM_017957	NP_060427	Q9H201	EPN3_HUMAN	BRCA - Breast invasive adenocarcinoma(22;2.88e-09)		5	1295	+	Breast(11;1.23e-18)		287					A8K6J3|A8KAB2|Q9BVN6|Q9NWK2	Missense_Mutation	SNP	ENST00000268933.3	37	c.860G>C	CCDS11570.1	.	.	.	.	.	.	.	.	.	.	G	5.203	0.223022	0.09863	.	.	ENSG00000049283	ENST00000268933;ENST00000442715;ENST00000537145;ENST00000541226;ENST00000411703	T;T;T	0.46063	2.5;2.44;0.88	4.54	0.95	0.19572	.	1.043930	0.07588	N	0.921425	T	0.33381	0.0861	L	0.53249	1.67	0.22639	N	0.998907	B;B;B	0.32467	0.255;0.372;0.002	B;B;B	0.29077	0.045;0.098;0.007	T	0.22661	-1.0210	10	0.14656	T	0.56	-1.3137	7.1461	0.25583	0.4038:0.0:0.5962:0.0	.	315;315;287	B4DK18;F6QWW5;Q9H201	.;.;EPN3_HUMAN	T	287;315;315;204;287	ENSP00000268933:R287T;ENSP00000439512:R315T;ENSP00000440540:R204T	ENSP00000268933:R287T	R	+	2	0	EPN3	45971644	0.028000	0.19301	0.966000	0.40874	0.015000	0.08874	0.059000	0.14322	0.053000	0.16036	-1.786000	0.00637	AGA		0.582	EPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367573.1		NM_017957		10	36	0	0	0	1	0	10	36		
TEX14	56155	broad.mit.edu	37	17	56693643	56693643	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:56693643C>G	ENST00000240361.8	-	7	763	c.678G>C	c.(676-678)caG>caC	p.Q226H	TEX14_ENST00000389934.3_Missense_Mutation_p.Q220H|TEX14_ENST00000349033.5_Missense_Mutation_p.Q220H			Q8IWB6	TEX14_HUMAN	testis expressed 14	226					attachment of spindle microtubules to kinetochore (GO:0008608)|intercellular bridge organization (GO:0043063)|male meiosis (GO:0007140)|mitotic sister chromatid separation (GO:0051306)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)	cell (GO:0005623)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|midbody (GO:0030496)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GATAGGCCATCTGTGTCGCCC	0.478																																						uc010dcz.1		NaN																	0				stomach(4)|lung(3)|breast(3)|ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)|pancreas(1)	17						c.(676-678)CAG>CAC		testis expressed sequence 14 isoform a							89.0	80.0	83.0					17																	56693643		2203	4300	6503	SO:0001583	missense	56155					cytoplasm	ATP binding|protein kinase activity	g.chr17:56693643C>G	AF285601	CCDS32692.1, CCDS32693.1, CCDS56042.1	17q22	2013-09-20	2007-03-13		ENSG00000121101	ENSG00000121101			11737	protein-coding gene	gene with protein product	"""cancer/testis antigen 113"""	605792	"""testis expressed sequence 14"""			11279525, 12711554	Standard	NM_031272		Approved	CT113	uc010dcz.2	Q8IWB6	OTTHUMG00000179245	ENST00000240361.8:c.678G>C	17.37:g.56693643C>G	ENSP00000240361:p.Gln226His					TEX14_uc002iwr.1_Missense_Mutation_p.Q220H|TEX14_uc002iws.1_Missense_Mutation_p.Q220H|TEX14_uc010dda.1_5'UTR	p.Q226H	NM_198393	NP_938207	Q8IWB6	TEX14_HUMAN			7	796	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		226					A6NH19|Q7RTP3|Q8ND97|Q9BXT9	Missense_Mutation	SNP	ENST00000240361.8	37	c.678G>C	CCDS56042.1	.	.	.	.	.	.	.	.	.	.	C	3.436	-0.114998	0.06881	.	.	ENSG00000121101	ENST00000240361;ENST00000389934;ENST00000349033	T;T;T	0.80123	-1.34;-1.34;-1.28	5.65	1.5	0.22942	.	0.183935	0.38959	N	0.001508	T	0.58581	0.2132	N	0.16656	0.425	0.09310	N	1	B;B;B	0.23128	0.048;0.08;0.08	B;B;B	0.26202	0.03;0.067;0.067	T	0.36720	-0.9736	10	0.20046	T	0.44	-4.6587	1.5323	0.02538	0.1349:0.4273:0.1314:0.3064	.	226;220;220	Q8IWB6;Q8IWB6-3;Q8IWB6-2	TEX14_HUMAN;.;.	H	226;220;220	ENSP00000240361:Q226H;ENSP00000374584:Q220H;ENSP00000268910:Q220H	ENSP00000240361:Q226H	Q	-	3	2	TEX14	54048642	0.974000	0.33945	0.089000	0.20774	0.081000	0.17604	0.078000	0.14761	0.076000	0.16826	0.655000	0.94253	CAG		0.478	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445446.1				10	66	0	0	0	1	0	10	66		
CLTC	1213	broad.mit.edu	37	17	57743482	57743482	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:57743482G>A	ENST00000269122.3	+	11	1937	c.1663G>A	c.(1663-1665)Gaa>Aaa	p.E555K	CLTC_ENST00000393043.1_Missense_Mutation_p.E555K|CLTC_ENST00000579456.1_Intron	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	555	Distal segment.|Heavy chain arm.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic nuclear division (GO:0007067)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of protein localization to plasma membrane (GO:1903077)|osteoblast differentiation (GO:0001649)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|transferrin transport (GO:0033572)	clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	clathrin light chain binding (GO:0032051)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TGTCTTTATGGAATACAATCT	0.333			T	"""ALK, TFE3"""	"""ALCL, renal """																																	uc002ixq.1		NaN		Dom	yes		17	17q11-qter	1213	T	"""clathrin, heavy polypeptide (Hc)"""			L	ALK|TFE3		ALCL|renal 	CLTC/ALK(44)|CLTC/TFE3(2)	0				haematopoietic_and_lymphoid_tissue(33)|soft_tissue(11)|kidney(2)|ovary(1)|breast(1)	48						c.(1663-1665)GAA>AAA		clathrin heavy chain 1							89.0	82.0	84.0					17																	57743482		2203	4300	6503	SO:0001583	missense	1213				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity	g.chr17:57743482G>A	X55878	CCDS32696.1, CCDS74115.1	17q23.1	2013-09-19	2006-09-29		ENSG00000141367	ENSG00000141367			2092	protein-coding gene	gene with protein product		118955	"""clathrin, heavy polypeptide (Hc)"", ""clathrin, heavy chain"", ""clathrin, heavy polypeptide-like 2"""	CLTCL2		1765375, 7584026	Standard	NM_004859		Approved	Hc	uc002ixq.1	Q00610	OTTHUMG00000134279	ENST00000269122.3:c.1663G>A	17.37:g.57743482G>A	ENSP00000269122:p.Glu555Lys					CLTC_uc002ixp.2_Missense_Mutation_p.E555K|CLTC_uc002ixr.1_Missense_Mutation_p.E559K	p.E555K	NM_004859	NP_004850	Q00610	CLH1_HUMAN			11	2106	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		555			Heavy chain arm.|Distal segment.		D3DU00|Q6N0A0|Q86TF2	Missense_Mutation	SNP	ENST00000269122.3	37	c.1663G>A	CCDS32696.1	.	.	.	.	.	.	.	.	.	.	G	36	5.640169	0.96693	.	.	ENSG00000141367	ENST00000269122;ENST00000393043	T;T	0.17370	2.28;2.28	5.53	5.53	0.82687	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.46600	0.1401	M	0.78801	2.425	0.80722	D	1	D;B	0.56968	0.978;0.363	D;B	0.77557	0.99;0.371	T	0.36720	-0.9736	10	0.56958	D	0.05	.	19.8183	0.96579	0.0:0.0:1.0:0.0	.	555;555	Q00610;Q00610-2	CLH1_HUMAN;.	K	555	ENSP00000269122:E555K;ENSP00000376763:E555K	ENSP00000269122:E555K	E	+	1	0	CLTC	55098264	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.761000	0.94854	0.650000	0.86243	GAA		0.333	CLTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258859.1		NM_004859		9	26	0	0	0	1	0	9	26		
TBX4	9496	broad.mit.edu	37	17	59560332	59560332	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:59560332C>T	ENST00000240335.1	+	8	1138	c.1093C>T	c.(1093-1095)Cac>Tac	p.H365Y	TBX4_ENST00000393853.4_Missense_Mutation_p.H366Y|TBX4_ENST00000589449.1_3'UTR	NM_018488.2	NP_060958.2	P57082	TBX4_HUMAN	T-box 4	365					angiogenesis (GO:0001525)|embryonic limb morphogenesis (GO:0030326)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						GGGGGAGGATCACTATTTCCG	0.552																																						uc002izi.2		NaN																	0				skin(2)	2						c.(1093-1095)CAC>TAC		T-box 4							67.0	58.0	61.0					17																	59560332		2203	4300	6503	SO:0001583	missense	9496				leg morphogenesis|skeletal system morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:59560332C>T	AF188703	CCDS11629.1	17q21-q22	2005-10-11				ENSG00000121075		"""T-boxes"""	11603	protein-coding gene	gene with protein product		601719				10945475	Standard	NM_018488		Approved		uc002izi.3	P57082		ENST00000240335.1:c.1093C>T	17.37:g.59560332C>T	ENSP00000240335:p.His365Tyr					TBX4_uc010ddo.2_Missense_Mutation_p.H366Y|TBX4_uc010woy.1_Missense_Mutation_p.H366Y	p.H365Y	NM_018488	NP_060958	P57082	TBX4_HUMAN			8	1138	+			365					A5PKU7|B2RMT1|B7ZLV3	Missense_Mutation	SNP	ENST00000240335.1	37	c.1093C>T	CCDS11629.1	.	.	.	.	.	.	.	.	.	.	C	20.0	3.930806	0.73327	.	.	ENSG00000121075	ENST00000393853;ENST00000240335	T;T	0.41758	0.99;0.99	5.51	5.51	0.81932	.	0.825803	0.11665	N	0.541452	T	0.64103	0.2568	M	0.61703	1.905	0.80722	D	1	P;D	0.57899	0.949;0.981	D;D	0.67900	0.914;0.954	T	0.57665	-0.7772	9	.	.	.	.	18.4117	0.90554	0.0:1.0:0.0:0.0	.	366;365	A5PKU7;P57082	.;TBX4_HUMAN	Y	366;365	ENSP00000377435:H366Y;ENSP00000240335:H365Y	.	H	+	1	0	TBX4	56915114	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.438000	0.80431	2.590000	0.87494	0.655000	0.94253	CAC		0.552	TBX4-002	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000449649.1		NM_018488		9	26	0	0	0	1	0	9	26		
TANC2	26115	broad.mit.edu	37	17	61488930	61488930	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:61488930G>A	ENST00000424789.2	+	20	3430	c.3426G>A	c.(3424-3426)ttG>ttA	p.L1142L	AC015923.1_ENST00000431604.1_RNA|TANC2_ENST00000389520.4_Silent_p.L1142L|RP11-269G24.3_ENST00000583552.1_RNA	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1142					in utero embryonic development (GO:0001701)					breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						GGGCTTGTTTGAAGGGCCATC	0.527																																						uc002jal.3		NaN																	0				ovary(2)	2						c.(3424-3426)TTG>TTA		tetratricopeptide repeat, ankyrin repeat and							138.0	134.0	135.0					17																	61488930		2029	4193	6222	SO:0001819	synonymous_variant	26115						binding	g.chr17:61488930G>A	AB032974	CCDS45754.1	17q23.3	2013-01-11				ENSG00000170921		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30212	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	615047					Standard	NM_025185		Approved	DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, rols, ROLSA	uc002jal.4	Q9HCD6		ENST00000424789.2:c.3426G>A	17.37:g.61488930G>A						TANC2_uc010wpe.1_Silent_p.L1052L|TANC2_uc002jao.3_Silent_p.L243L	p.L1142L	NM_025185	NP_079461	Q9HCD6	TANC2_HUMAN			20	3449	+			1142			ANK 9.		Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Silent	SNP	ENST00000424789.2	37	c.3426G>A	CCDS45754.1																																																																																				0.527	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444765.1				23	66	0	0	0	1	0	23	66		
ABCA9	10350	broad.mit.edu	37	17	67023212	67023212	+	Nonsense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:67023212G>C	ENST00000340001.4	-	15	2166	c.1955C>G	c.(1954-1956)tCa>tGa	p.S652*	ABCA9_ENST00000453985.2_Nonsense_Mutation_p.S652*|ABCA9_ENST00000370732.2_Nonsense_Mutation_p.S652*	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	652	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					TCGGTGCCTTGAAAGAGGATC	0.438																																						uc002jhu.2		NaN																	0				ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6						c.(1954-1956)TCA>TGA		ATP-binding cassette, sub-family A, member 9							78.0	79.0	78.0					17																	67023212		2203	4300	6503	SO:0001587	stop_gained	10350				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67023212G>C	AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"""ATP binding cassette transporters / subfamily A"""	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.1955C>G	17.37:g.67023212G>C	ENSP00000342216:p.Ser652*					ABCA9_uc010dez.2_Nonsense_Mutation_p.S652*	p.S652*	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN			15	2098	-	Breast(10;1.47e-12)		652			ABC transporter 1.		Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Nonsense_Mutation	SNP	ENST00000340001.4	37	c.1955C>G	CCDS11681.1	.	.	.	.	.	.	.	.	.	.	G	37	6.114559	0.97296	.	.	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732;ENST00000453749	.	.	.	5.31	5.31	0.75309	.	0.000000	0.41500	D	0.000877	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.9067	0.88920	0.0:0.0:1.0:0.0	.	.	.	.	X	652;635;652;647	.	ENSP00000342216:S652X	S	-	2	0	ABCA9	64534807	1.000000	0.71417	0.093000	0.20910	0.011000	0.07611	9.339000	0.96797	2.663000	0.90544	0.585000	0.79938	TCA		0.438	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2		NM_172386		24	46	0	0	0	1	0	24	46		
C17orf80	55028	broad.mit.edu	37	17	71231891	71231891	+	Silent	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:71231891G>T	ENST00000535032.2	+	2	383	c.270G>T	c.(268-270)gtG>gtT	p.V90V	C17orf80_ENST00000582793.1_Intron|C17orf80_ENST00000577615.1_Silent_p.V90V|C17orf80_ENST00000359042.2_Silent_p.V90V|FAM104A_ENST00000583178.1_Intron|C17orf80_ENST00000426147.2_Silent_p.V90V|C17orf80_ENST00000255557.4_Silent_p.V90V|C17orf80_ENST00000268942.8_Silent_p.V90V			Q9BSJ5	CQ080_HUMAN	chromosome 17 open reading frame 80	90						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(5)|lung(2)|skin(2)|stomach(2)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(166;0.197)			AACAGACAGTGAAGACCTTTC	0.388																																						uc002jjm.3		NaN																	0				skin(1)	1						c.(268-270)GTG>GTT		lung cancer-related protein 8 isoform a							65.0	59.0	61.0					17																	71231891		2203	4300	6503	SO:0001819	synonymous_variant	55028					integral to membrane		g.chr17:71231891G>T	AY163812	CCDS11694.1, CCDS42377.1, CCDS45767.1, CCDS74145.1	17q25.1	2012-02-24	2012-02-24	2012-02-24	ENSG00000141219	ENSG00000141219			29601	protein-coding gene	gene with protein product	"""sperm-expressed protein 1"", ""migration-inducing protein 3"""					12477932	Standard	NM_017941		Approved	HLC-8, MIG3, FLJ20721, SPEP1	uc002jjl.4	Q9BSJ5		ENST00000535032.2:c.270G>T	17.37:g.71231891G>T						C17orf80_uc010wqu.1_Silent_p.V90V|C17orf80_uc010dfj.2_Silent_p.V90V|C17orf80_uc002jjk.1_Silent_p.V90V|C17orf80_uc002jjl.3_Silent_p.V90V	p.V90V	NM_017941	NP_060411	Q9BSJ5	CQ080_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.197)		3	464	+			90			Extracellular (Potential).		A8K9X3|Q5JB45|Q6YAU3|Q9H0L9|Q9H5E6|Q9NWN5	Silent	SNP	ENST00000535032.2	37	c.270G>T	CCDS11694.1																																																																																				0.388	C17orf80-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441893.1		NM_017941		19	36	1	0	5.03518e-11	1	5.42456e-11	19	36		
KIF19	124602	broad.mit.edu	37	17	72350300	72350300	+	Splice_Site	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:72350300G>C	ENST00000389916.4	+	18	2446		c.e18-1		AC103809.2_ENST00000599136.1_5'Flank	NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19						ATP catabolic process (GO:0006200)|axonemal microtubule depolymerization (GO:0060404)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end specific microtubule depolymerization (GO:0070462)	cilium (GO:0005929)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						TCCCGCTGCAGAGAGGAAGGA	0.652																																						uc002jkm.3		NaN																	0					0						c.e18-1		kinesin family member 19							60.0	70.0	67.0					17																	72350300		2045	4176	6221	SO:0001630	splice_region_variant	124602				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr17:72350300G>C	AK094619	CCDS32718.2	17q25	2007-02-13			ENSG00000196169	ENSG00000196169		"""Kinesins"""	26735	protein-coding gene	gene with protein product						11416179	Standard	NM_153209		Approved	FLJ37300, KIF19A	uc031rei.1	Q2TAC6	OTTHUMG00000150694	ENST00000389916.4:c.2309-1G>C	17.37:g.72350300G>C							p.E770_splice	NM_153209	NP_694941	Q2TAC6	KIF19_HUMAN			18	2447	+								A6NLG2|B7ZKR1|Q52M87|Q8N1X8|Q8TAB6	Splice_Site	SNP	ENST00000389916.4	37	c.2309_splice	CCDS32718.2	.	.	.	.	.	.	.	.	.	.	G	21.3	4.129338	0.77549	.	.	ENSG00000196169	ENST00000389916	.	.	.	5.25	4.28	0.50868	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.3782	0.60752	0.0771:0.0:0.9229:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KIF19	69861895	1.000000	0.71417	0.949000	0.38748	0.916000	0.54674	6.923000	0.75817	1.229000	0.43630	0.556000	0.70494	.		0.652	KIF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319644.2		NM_153209	Intron	21	76	0	0	0	1	0	21	76		
GPR142	350383	broad.mit.edu	37	17	72366737	72366737	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:72366737G>C	ENST00000335666.4	+	3	484	c.436G>C	c.(436-438)Gag>Cag	p.E146Q		NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	146						cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						CCACTGGCCAGAGATCGCAGA	0.647																																						uc010wqy.1		NaN																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(436-438)GAG>CAG		G protein-coupled receptor 142							88.0	73.0	78.0					17																	72366737		2203	4300	6503	SO:0001583	missense	350383					cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity	g.chr17:72366737G>C	AY255622	CCDS11698.1	17q25.2	2012-08-21				ENSG00000257008		"""GPCR / Class A : Orphans"""	20088	protein-coding gene	gene with protein product		609046				14623098	Standard	NM_181790		Approved	PGR2	uc010wqy.2	Q7Z601		ENST00000335666.4:c.436G>C	17.37:g.72366737G>C	ENSP00000335158:p.Glu146Gln					GPR142_uc010wqx.1_Missense_Mutation_p.E58Q	p.E146Q	NM_181790	NP_861455	Q7Z601	GP142_HUMAN			3	436	+			146			Extracellular (Potential).		A4CYJ8|Q86SL3	Missense_Mutation	SNP	ENST00000335666.4	37	c.436G>C	CCDS11698.1	.	.	.	.	.	.	.	.	.	.	G	31	5.101021	0.94245	.	.	ENSG00000257008	ENST00000335666	T	0.69040	-0.37	4.81	3.84	0.44239	.	0.255897	0.37761	N	0.001952	T	0.57636	0.2067	N	0.24115	0.695	0.22701	N	0.998838	D;P	0.54207	0.965;0.906	P;B	0.51016	0.656;0.444	T	0.49513	-0.8932	10	0.44086	T	0.13	-16.4407	7.9324	0.29909	0.1906:0.0:0.8094:0.0	.	146;1108	Q7Z601;Q8NGB0	GP142_HUMAN;.	Q	146	ENSP00000335158:E146Q	ENSP00000335158:E146Q	E	+	1	0	GPR142	69878332	0.999000	0.42202	0.055000	0.19348	0.924000	0.55760	2.938000	0.48987	1.354000	0.45846	0.485000	0.47835	GAG		0.647	GPR142-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442545.1		NM_181790		15	33	0	0	0	1	0	15	33		
KIAA0195	9772	broad.mit.edu	37	17	73491026	73491026	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:73491026C>G	ENST00000314256.7	+	20	3033	c.2639C>G	c.(2638-2640)tCc>tGc	p.S880C	KIAA0195_ENST00000375248.5_Missense_Mutation_p.S890C|KIAA0195_ENST00000579208.1_Missense_Mutation_p.S531C|AC100787.1_ENST00000579379.1_RNA	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	880						integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.S880C(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			TGCCACATCTCCCTCACACCC	0.582																																						uc002jnz.3		NaN																	1	Substitution - Missense(1)		ovary(1)	ovary(1)	1						c.(2638-2640)TCC>TGC		hypothetical protein LOC9772							77.0	82.0	81.0					17																	73491026		2203	4300	6503	SO:0001583	missense	9772				ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism	g.chr17:73491026C>G		CCDS32732.1	17q25.1	2012-03-01			ENSG00000177728	ENSG00000177728			28983	protein-coding gene	gene with protein product						8724849	Standard	NM_014738		Approved	TMEM94	uc002jnz.4	Q12767		ENST00000314256.7:c.2639C>G	17.37:g.73491026C>G	ENSP00000313885:p.Ser880Cys					KIAA0195_uc010wsa.1_Missense_Mutation_p.S890C|KIAA0195_uc010wsb.1_Missense_Mutation_p.S520C|KIAA0195_uc002job.3_5'Flank	p.S880C	NM_014738	NP_055553	Q12767	K0195_HUMAN	all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		20	2914	+	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		880					O75536|Q86XF1	Missense_Mutation	SNP	ENST00000314256.7	37	c.2639C>G	CCDS32732.1	.	.	.	.	.	.	.	.	.	.	C	15.40	2.821032	0.50633	.	.	ENSG00000177728	ENST00000314256;ENST00000375248	T;T	0.72942	-0.7;-0.7	5.53	5.53	0.82687	.	0.054889	0.85682	D	0.000000	D	0.85720	0.5762	M	0.81112	2.525	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.85130	0.994;0.997;0.994	D	0.87132	0.2197	10	0.87932	D	0	-34.1084	19.462	0.94921	0.0:1.0:0.0:0.0	.	890;890;880	B4DGC6;C9JL75;Q12767	.;.;K0195_HUMAN	C	880;890	ENSP00000313885:S880C;ENSP00000364397:S890C	ENSP00000313885:S880C	S	+	2	0	KIAA0195	71002621	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.403000	0.79983	2.603000	0.88011	0.467000	0.42956	TCC		0.582	KIAA0195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447303.1		NM_014738		36	80	0	0	0	1	0	36	80		
H3F3B	3021	broad.mit.edu	37	17	73775024	73775024	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:73775024C>G	ENST00000254810.4	-	3	281	c.149G>C	c.(148-150)cGa>cCa	p.R50P	H3F3B_ENST00000592643.1_Missense_Mutation_p.R50P|H3F3B_ENST00000587560.1_Missense_Mutation_p.R50P|H3F3B_ENST00000586607.1_Missense_Mutation_p.R50P|H3F3B_ENST00000591890.1_Missense_Mutation_p.R50P|H3F3B_ENST00000589599.1_Missense_Mutation_p.R50P|H3F3B_ENST00000593254.1_Intron	NM_005324.3	NP_005315.1	P84243	H33_HUMAN	H3 histone, family 3B (H3.3B)	50					blood coagulation (GO:0007596)|brain development (GO:0007420)|DNA replication-independent nucleosome assembly (GO:0006336)|positive regulation of cell growth (GO:0030307)|response to hormone (GO:0009725)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nuclear nucleosome (GO:0000788)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	nucleosomal DNA binding (GO:0031492)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)			large_intestine(1)|lung(4)|ovary(2)|skin(1)	8	all_cancers(13;1.5e-07)		all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			ACGAATCTCTCGAAGCGCCAC	0.652											OREG0024740	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002jpl.2		NaN																	0				ovary(1)	1						c.(148-150)CGA>CCA		H3 histone, family 3B							35.0	39.0	38.0					17																	73775024		2203	4300	6503	SO:0001583	missense	3021				blood coagulation|nucleosome assembly	nucleoplasm|nucleosome	DNA binding	g.chr17:73775024C>G	Z48950	CCDS11729.1	17q25.1	2011-06-01			ENSG00000132475	ENSG00000132475		"""Histones / Replication-independent"""	4765	protein-coding gene	gene with protein product		601058				8586426	Standard	NM_005324		Approved	H3.3B	uc002jpl.3	P84243		ENST00000254810.4:c.149G>C	17.37:g.73775024C>G	ENSP00000254810:p.Arg50Pro		OREG0024740	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1147		p.R50P	NM_005324	NP_005315	P84243	H33_HUMAN	all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)		3	282	-	all_cancers(13;1.5e-07)		50					P06351|P33155|Q5VV55|Q5VV56|Q66I33|Q9V3W4	Missense_Mutation	SNP	ENST00000254810.4	37	c.149G>C	CCDS11729.1	.	.	.	.	.	.	.	.	.	.	C	14.25	2.478094	0.44044	.	.	ENSG00000132475	ENST00000254810	T	0.48836	0.8	5.28	5.28	0.74379	.	0.000000	0.64402	U	0.000014	T	0.80959	0.4724	H	0.97315	3.98	0.54753	D	0.999988	.	.	.	.	.	.	D	0.87239	0.2265	8	0.66056	D	0.02	.	19.1054	0.93293	0.0:1.0:0.0:0.0	.	.	.	.	P	50	ENSP00000254810:R50P	ENSP00000254810:R50P	R	-	2	0	H3F3B	71286619	0.996000	0.38824	0.473000	0.27253	0.950000	0.60333	5.679000	0.68160	2.744000	0.94065	0.655000	0.94253	CGA		0.652	H3F3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448499.1		NM_005324		11	35	0	0	0	1	0	11	35		
UNC13D	201294	broad.mit.edu	37	17	73830498	73830498	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:73830498G>A	ENST00000207549.4	-	23	2585	c.2206C>T	c.(2206-2208)Cag>Tag	p.Q736*	UNC13D_ENST00000412096.2_Nonsense_Mutation_p.Q736*	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	736					defense response to virus (GO:0051607)|germinal center formation (GO:0002467)|granuloma formation (GO:0002432)|natural killer cell degranulation (GO:0043320)|phagocytosis (GO:0006909)|positive regulation of exocytosis (GO:0045921)|regulation of mast cell degranulation (GO:0043304)	endosome (GO:0005768)|exocytic vesicle (GO:0070382)|lysosome (GO:0005764)|membrane (GO:0016020)				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			TTCTGCAGCTGCCCCTGCTCC	0.692									Familial Hemophagocytic Lymphohistiocytosis																													uc002jpp.2		NaN																	0				upper_aerodigestive_tract(1)|skin(1)	2						c.(2206-2208)CAG>TAG		unc-13 homolog D							14.0	13.0	14.0					17																	73830498		2185	4280	6465	SO:0001587	stop_gained	201294	Familial_Hemophagocytic_Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding	g.chr17:73830498G>A	AK024474	CCDS11730.1	17q25.3	2014-09-17				ENSG00000092929			23147	protein-coding gene	gene with protein product		608897					Standard	NM_199242		Approved	Munc13-4	uc002jpp.3	Q70J99		ENST00000207549.4:c.2206C>T	17.37:g.73830498G>A	ENSP00000207549:p.Gln736*					UNC13D_uc010wsk.1_Nonsense_Mutation_p.Q736*|UNC13D_uc002jpq.1_Nonsense_Mutation_p.Q386*	p.Q736*	NM_199242	NP_954712	Q70J99	UN13D_HUMAN	all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)		23	2586	-			736					B4DWG9|Q9H7K5	Nonsense_Mutation	SNP	ENST00000207549.4	37	c.2206C>T	CCDS11730.1	.	.	.	.	.	.	.	.	.	.	G	43	10.169238	0.99351	.	.	ENSG00000092929	ENST00000207549;ENST00000412096;ENST00000448606	.	.	.	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-1.0249	17.6386	0.88129	0.0:0.0:1.0:0.0	.	.	.	.	X	736	.	ENSP00000207549:Q736X	Q	-	1	0	UNC13D	71342093	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.737000	0.74816	2.485000	0.83878	0.462000	0.41574	CAG		0.692	UNC13D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448847.2		XM_113950		10	3	0	0	0	1	0	10	3		
QRICH2	84074	broad.mit.edu	37	17	74274098	74274098	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:74274098G>C	ENST00000262765.5	-	15	4770	c.4591C>G	c.(4591-4593)Cag>Gag	p.Q1531E		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	1531										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						CCCAGGCACTGGGCGTGCAGC	0.627																																						uc002jrd.1		NaN																	0				ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1)|skin(1)	5						c.(4591-4593)CAG>GAG		glutamine rich 2							56.0	59.0	58.0					17																	74274098		2203	4300	6503	SO:0001583	missense	84074						protein binding	g.chr17:74274098G>C	AK058102	CCDS32741.1	17q25.1	2009-03-19			ENSG00000129646	ENSG00000129646			25326	protein-coding gene	gene with protein product							Standard	NM_032134		Approved	DKFZP434P0316	uc002jrd.1	Q9H0J4	OTTHUMG00000167578	ENST00000262765.5:c.4591C>G	17.37:g.74274098G>C	ENSP00000262765:p.Gln1531Glu					QRICH2_uc010wsz.1_Intron|QRICH2_uc010dgw.1_Missense_Mutation_p.Q375E	p.Q1531E	NM_032134	NP_115510	Q9H0J4	QRIC2_HUMAN			15	4771	-			1531					A2RRE1|Q96LM3	Missense_Mutation	SNP	ENST00000262765.5	37	c.4591C>G	CCDS32741.1	.	.	.	.	.	.	.	.	.	.	G	13.03	2.114130	0.37339	.	.	ENSG00000129646	ENST00000262765	T	0.10005	2.92	5.51	5.51	0.81932	.	.	.	.	.	T	0.24699	0.0599	M	0.70595	2.14	0.28440	N	0.916837	P	0.50443	0.935	P	0.50708	0.648	T	0.03473	-1.1033	9	0.51188	T	0.08	-1.613	16.3043	0.82842	0.0:0.0:1.0:0.0	.	1531	Q9H0J4	QRIC2_HUMAN	E	1531	ENSP00000262765:Q1531E	ENSP00000262765:Q1531E	Q	-	1	0	QRICH2	71785693	1.000000	0.71417	0.997000	0.53966	0.163000	0.22366	4.114000	0.57858	2.577000	0.86979	0.491000	0.48974	CAG		0.627	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395140.1		NM_032134		24	71	0	0	0	1	0	24	71		
EIF4A3	9775	broad.mit.edu	37	17	78111251	78111251	+	Nonsense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:78111251G>C	ENST00000269349.3	-	9	1138	c.917C>G	c.(916-918)tCa>tGa	p.S306*		NM_014740.3	NP_055555.1	P38919	IF4A3_HUMAN	eukaryotic translation initiation factor 4A3	306	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|cytokine-mediated signaling pathway (GO:0019221)|embryonic cranial skeleton morphogenesis (GO:0048701)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|mRNA binding (GO:0003729)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)			TCCATGCATTGAGGATACAGT	0.532																																						uc010wuc.1		NaN																	0				ovary(1)	1						c.(916-918)TCA>TGA		eukaryotic translation initiation factor 4A,							147.0	113.0	124.0					17																	78111251		2203	4300	6503	SO:0001587	stop_gained	9775				mRNA transport|negative regulation of translation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|rRNA processing	catalytic step 2 spliceosome|cytoplasm|exon-exon junction complex|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|poly(A) RNA binding|protein binding	g.chr17:78111251G>C	BC004386	CCDS11767.1	17q25.3	2010-02-10	2010-02-10	2006-11-27		ENSG00000141543		"""DEAD-boxes"""	18683	protein-coding gene	gene with protein product		608546	"""DEAD (Asp-Glu-Ala-Asp) box polypeptide 48"", ""eukaryotic translation initiation factor 4A, isoform 3"""	DDX48		10623621, 14730019	Standard	NM_014740		Approved	KIAA0111, EIF4AIII	uc002jxs.3	P38919		ENST00000269349.3:c.917C>G	17.37:g.78111251G>C	ENSP00000269349:p.Ser306*					EIF4A3_uc002jxs.2_Nonsense_Mutation_p.S306*	p.S306*	NM_014740	NP_055555	P38919	IF4A3_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		10	990	-	all_neural(118;0.117)		306			Helicase C-terminal.		Q15033|Q6IBQ2|Q96A18	Nonsense_Mutation	SNP	ENST00000269349.3	37	c.917C>G	CCDS11767.1	.	.	.	.	.	.	.	.	.	.	G	36	5.603640	0.96626	.	.	ENSG00000141543	ENST00000269349	.	.	.	4.48	4.48	0.54585	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-18.4711	14.6759	0.68978	0.0:0.0:1.0:0.0	.	.	.	.	X	306	.	ENSP00000269349:S306X	S	-	2	0	EIF4A3	75725846	1.000000	0.71417	0.521000	0.27850	0.157000	0.22087	7.317000	0.79018	2.333000	0.79357	0.650000	0.86243	TCA		0.532	EIF4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437446.1		NM_014740		12	15	0	0	0	1	0	12	15		
PYCR1	5831	broad.mit.edu	37	17	79893381	79893381	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:79893381C>T	ENST00000329875.8	-	3	214	c.150G>A	c.(148-150)gtG>gtA	p.V50V	PYCR1_ENST00000402252.2_Silent_p.V77V|PYCR1_ENST00000577756.1_Silent_p.V50V|PYCR1_ENST00000403172.4_Silent_p.V50V|PYCR1_ENST00000337943.5_Silent_p.V50V|RP11-498C9.13_ENST00000583521.1_RNA	NM_001282280.1|NM_001282281.1|NM_006907.2	NP_001269209.1|NP_001269210.1|NP_008838.2	P32322	P5CR1_HUMAN	pyrroline-5-carboxylate reductase 1	50					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to oxidative stress (GO:0034599)|L-proline biosynthetic process (GO:0055129)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|proline biosynthetic process (GO:0006561)|regulation of mitochondrial membrane potential (GO:0051881)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	identical protein binding (GO:0042802)|pyrroline-5-carboxylate reductase activity (GO:0004735)			endometrium(2)|kidney(1)|lung(1)|prostate(1)	5	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		L-Proline(DB00172)	GTGTCAACTTCACCCCCATCT	0.582																																						uc002kcr.1		NaN																	0					0						c.(148-150)GTG>GTA		pyrroline-5-carboxylate reductase 1 isoform 1	L-Proline(DB00172)|NADH(DB00157)						96.0	71.0	79.0					17																	79893381		2201	4298	6499	SO:0001819	synonymous_variant	5831				cellular response to oxidative stress|proline biosynthetic process	mitochondrial matrix	binding|pyrroline-5-carboxylate reductase activity	g.chr17:79893381C>T		CCDS11794.1, CCDS11795.1, CCDS62365.1, CCDS62366.1	17q25.3	2013-09-23			ENSG00000183010	ENSG00000183010	1.5.1.2		9721	protein-coding gene	gene with protein product		179035				1730675	Standard	XM_005256381		Approved	P5C	uc002kcr.1	P32322	OTTHUMG00000178436	ENST00000329875.8:c.150G>A	17.37:g.79893381C>T						PYCR1_uc002kcq.1_Silent_p.V50V|PYCR1_uc002kcp.2_Silent_p.V50V|PYCR1_uc002kcs.1_Silent_p.V50V|PYCR1_uc010wvd.1_Silent_p.V77V|PYCR1_uc002kct.1_Silent_p.V50V|PYCR1_uc002kcu.1_Silent_p.V50V|PYCR1_uc010wve.1_Silent_p.V3V	p.V50V	NM_006907	NP_008838	P32322	P5CR1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		3	428	-	all_neural(118;0.0878)|Ovarian(332;0.12)		50					A6NFM2|B4DMU0|Q6FHI4|Q96DI6|Q9HBQ4	Silent	SNP	ENST00000329875.8	37	c.150G>A	CCDS11795.1																																																																																				0.582	PYCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441953.1				6	16	0	0	0	1	0	6	16		
CLUL1	27098	broad.mit.edu	37	18	641518	641518	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr18:641518G>C	ENST00000400606.2	+	7	1331	c.1186G>C	c.(1186-1188)Gag>Cag	p.E396Q	CLUL1_ENST00000338387.7_Missense_Mutation_p.E396Q|C18orf56_ENST00000585033.1_Intron|CLUL1_ENST00000581619.1_Missense_Mutation_p.E421Q|CLUL1_ENST00000579494.1_Missense_Mutation_p.E396Q|CLUL1_ENST00000540035.1_Missense_Mutation_p.E448Q	NM_014410.4	NP_055225.1	Q15846	CLUL1_HUMAN	clusterin-like 1 (retinal)	396					cell death (GO:0008219)	extracellular region (GO:0005576)				NS(1)|breast(1)|endometrium(5)|large_intestine(5)|liver(2)|lung(7)|ovary(2)|skin(1)	24						CCCAGAAACAGAGATCATCTT	0.458																																						uc002kkp.2		NaN																	0				ovary(2)	2						c.(1186-1188)GAG>CAG		clusterin-like 1 (retinal) precursor							78.0	77.0	77.0					18																	641518		1903	4105	6008	SO:0001583	missense	27098				cell death	extracellular region		g.chr18:641518G>C	D63813	CCDS42405.1, CCDS74187.1	18p11.32	2008-07-28				ENSG00000079101			2096	protein-coding gene	gene with protein product						10675623, 14507903	Standard	NM_199167		Approved		uc002kkq.3	Q15846		ENST00000400606.2:c.1186G>C	18.37:g.641518G>C	ENSP00000383449:p.Glu396Gln					CLUL1_uc010wys.1_Missense_Mutation_p.E448Q|CLUL1_uc002kkq.2_Missense_Mutation_p.E396Q	p.E396Q	NM_014410	NP_055225	Q15846	CLUL1_HUMAN			7	1331	+			396					A0FDN7	Missense_Mutation	SNP	ENST00000400606.2	37	c.1186G>C	CCDS42405.1	.	.	.	.	.	.	.	.	.	.	G	12.44	1.940005	0.34283	.	.	ENSG00000079101	ENST00000400606;ENST00000540035;ENST00000338387	T;T;T	0.25085	1.82;1.82;1.82	5.45	3.65	0.41850	Clusterin, C-terminal (1);	0.292074	0.36101	N	0.002781	T	0.41190	0.1148	M	0.66939	2.045	0.80722	D	1	D;D	0.63880	0.992;0.993	P;P	0.58620	0.813;0.842	T	0.15723	-1.0427	10	0.45353	T	0.12	-6.7851	10.8004	0.46485	0.1497:0.0:0.8503:0.0	.	448;396	F5GWQ8;Q15846	.;CLUL1_HUMAN	Q	396;448;396	ENSP00000383449:E396Q;ENSP00000441726:E448Q;ENSP00000341128:E396Q	ENSP00000341128:E396Q	E	+	1	0	CLUL1	631518	0.999000	0.42202	0.046000	0.18839	0.031000	0.12232	2.867000	0.48428	0.658000	0.30925	0.563000	0.77884	GAG		0.458	CLUL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441183.1				20	29	0	0	0	1	0	20	29		
MYOM1	8736	broad.mit.edu	37	18	3129355	3129355	+	Missense_Mutation	SNP	T	T	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr18:3129355T>A	ENST00000356443.4	-	18	3002	c.2669A>T	c.(2668-2670)aAc>aTc	p.N890I	MYOM1_ENST00000582016.1_5'UTR|MYOM1_ENST00000261606.7_Intron|MYOM1_ENST00000400569.3_Missense_Mutation_p.N890I	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	890					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)			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						TTGGCCCAGGTTTTGAGAGCT	0.522											OREG0024838	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002klp.2		NaN																	0				ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(2668-2670)AAC>ATC		myomesin 1 isoform a							182.0	182.0	182.0					18																	3129355		1898	4112	6010	SO:0001583	missense	8736					striated muscle myosin thick filament	structural constituent of muscle	g.chr18:3129355T>A	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.2669A>T	18.37:g.3129355T>A	ENSP00000348821:p.Asn890Ile		OREG0024838	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	608	MYOM1_uc002klq.2_Intron	p.N890I	NM_003803	NP_003794	P52179	MYOM1_HUMAN			18	3003	-			890					Q14BD6|Q6H969|Q6ZUU0	Missense_Mutation	SNP	ENST00000356443.4	37	c.2669A>T	CCDS45824.1	.	.	.	.	.	.	.	.	.	.	T	5.906	0.351273	0.11182	.	.	ENSG00000101605	ENST00000356443;ENST00000400569	T;T	0.45276	0.9;0.9	5.88	-2.61	0.06171	.	1.141700	0.06091	N	0.663661	T	0.23806	0.0576	N	0.14661	0.345	0.09310	N	1	B	0.28128	0.201	B	0.23574	0.047	T	0.22138	-1.0225	10	0.33141	T	0.24	.	8.7293	0.34489	0.0:0.3662:0.1026:0.5312	.	890	P52179	MYOM1_HUMAN	I	890	ENSP00000348821:N890I;ENSP00000383413:N890I	ENSP00000348821:N890I	N	-	2	0	MYOM1	3119355	0.999000	0.42202	0.205000	0.23548	0.942000	0.58702	0.488000	0.22371	-0.318000	0.08665	0.533000	0.62120	AAC		0.522	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2		NM_003803		39	122	0	0	0	1	0	39	122		
RAB12	201475	broad.mit.edu	37	18	8624969	8624969	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr18:8624969G>C	ENST00000329286.6	+	2	543	c.260G>C	c.(259-261)aGa>aCa	p.R87T		NM_001025300.2	NP_001020471.2	Q6IQ22	RAB12_HUMAN	RAB12, member RAS oncogene family	87					autophagy (GO:0006914)|cellular protein catabolic process (GO:0044257)|endosome to lysosome transport (GO:0008333)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|recycling endosome membrane (GO:0055038)|secretory granule (GO:0030141)	GDP binding (GO:0019003)|GTP binding (GO:0005525)			breast(1)|lung(4)|prostate(1)|urinary_tract(1)	7						GTAGAGCTAAGAGGAAAGAAA	0.333																																						uc002knp.2		NaN																	0					0						c.(259-261)AGA>ACA		RAB12, member RAS oncogene family							199.0	186.0	190.0					18																	8624969		1854	4099	5953	SO:0001583	missense	201475				protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding	g.chr18:8624969G>C		CCDS42410.1	18p11.22	2006-12-18				ENSG00000206418		"""RAB, member RAS oncogene"""	31332	protein-coding gene	gene with protein product							Standard	NM_001025300		Approved		uc002knp.3	Q6IQ22		ENST00000329286.6:c.260G>C	18.37:g.8624969G>C	ENSP00000331748:p.Arg87Thr						p.R87T	NM_001025300	NP_001020471	Q6IQ22	RAB12_HUMAN			2	543	+			87					A6NEF5|Q4KMQ3	Missense_Mutation	SNP	ENST00000329286.6	37	c.260G>C	CCDS42410.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.142129	0.77775	.	.	ENSG00000206418	ENST00000329286	T	0.80214	-1.35	5.97	5.97	0.96955	Small GTP-binding protein domain (1);	0.000000	0.85682	U	0.000000	T	0.73087	0.3542	N	0.25992	0.78	0.52099	D	0.999947	B	0.30870	0.298	B	0.32928	0.155	T	0.73610	-0.3928	10	0.87932	D	0	.	15.4964	0.75653	0.0677:0.0:0.9323:0.0	.	87	Q6IQ22	RAB12_HUMAN	T	87	ENSP00000331748:R87T	ENSP00000331748:R87T	R	+	2	0	RAB12	8614969	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.258000	0.78371	2.828000	0.97474	0.655000	0.94253	AGA		0.333	RAB12-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444080.1		XM_113967		31	130	0	0	0	1	0	31	130		
MTCL1	23255	broad.mit.edu	37	18	8793020	8793020	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr18:8793020G>C	ENST00000359865.3	+	8	2054	c.1912G>C	c.(1912-1914)Gag>Cag	p.E638Q	SOGA2_ENST00000518815.1_Intron|SOGA2_ENST00000306329.11_Intron|SOGA2_ENST00000400050.3_Intron|SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000517570.1_Intron	NM_015210.3	NP_056025.2																					CGTTTTACCTGAGCAGAGTGT	0.527																																						uc002knr.2		NaN																	0					0						c.(1912-1914)GAG>CAG		hypothetical protein LOC23255							94.0	105.0	101.0					18																	8793020		2203	4300	6503	SO:0001583	missense	23255							g.chr18:8793020G>C																												ENST00000359865.3:c.1912G>C	18.37:g.8793020G>C	ENSP00000352927:p.Glu638Gln					KIAA0802_uc002knq.2_Intron|KIAA0802_uc002kns.2_Intron	p.E638Q	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN			8	2054	+			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment						Missense_Mutation	SNP	ENST00000359865.3	37	c.1912G>C	CCDS11841.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.977782	0.53720	.	.	ENSG00000168502	ENST00000306329;ENST00000359865	T	0.38722	1.12	5.36	4.49	0.54785	.	0.789864	0.10704	N	0.643621	T	0.44052	0.1275	L	0.34521	1.04	0.80722	D	1	P	0.48016	0.904	P	0.48227	0.571	T	0.34054	-0.9844	10	0.66056	D	0.02	.	14.2785	0.66196	0.072:0.0:0.928:0.0	.	638	Q9Y4B5-3	.	Q	659;638	ENSP00000352927:E638Q	ENSP00000305027:E659Q	E	+	1	0	CCDC165	8783020	1.000000	0.71417	0.999000	0.59377	0.757000	0.42996	2.632000	0.46511	1.420000	0.47138	0.561000	0.74099	GAG		0.527	SOGA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254476.1				40	130	0	0	0	1	0	40	130		
SEH1L	81929	broad.mit.edu	37	18	12948141	12948141	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr18:12948141C>T	ENST00000262124.11	+	1	148	c.21C>T	c.(19-21)atC>atT	p.I7I	SEH1L_ENST00000399892.2_Silent_p.I7I	NM_031216.3	NP_112493.2	Q96EE3	SEH1_HUMAN	SEH1-like (S. cerevisiae)	7					attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation (GO:0051315)|carbohydrate metabolic process (GO:0005975)|cytokine production involved in inflammatory response (GO:0002534)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-positive bacterium (GO:0050830)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore organization (GO:0006999)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						CTCGCAGCATCGCGGCGGACC	0.672																																						uc002krr.2		NaN																	0					0						c.(19-21)ATC>ATT		sec13-like protein isoform 2							28.0	23.0	25.0					18																	12948141		2199	4289	6488	SO:0001819	synonymous_variant	81929				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mitotic metaphase plate congression|mitotic prometaphase|mRNA transport|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex		g.chr18:12948141C>T	BC012430	CCDS32791.1, CCDS45832.1	18p11.21	2013-01-10				ENSG00000085415		"""WD repeat domain containing"""	30379	protein-coding gene	gene with protein product	"""sec13 like protein"", ""nucleoporin Seh1"""	609263				12196509, 14517296	Standard	XM_005258152		Approved	SEH1A, SEH1B, Seh1, SEC13L	uc002krq.3	Q96EE3		ENST00000262124.11:c.21C>T	18.37:g.12948141C>T						SEH1L_uc002krq.2_Silent_p.I7I	p.I7I	NM_031216	NP_112493	Q96EE3	SEH1_HUMAN			1	159	+			7					A8K5B1|Q8NFU6|Q96MH3|Q9C069	Silent	SNP	ENST00000262124.11	37	c.21C>T	CCDS45832.1																																																																																				0.672	SEH1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458254.1		NM_031216		7	14	0	0	0	1	0	7	14		
IMPACT	55364	broad.mit.edu	37	18	22008854	22008854	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr18:22008854C>G	ENST00000284202.4	+	3	328	c.187C>G	c.(187-189)Cca>Gca	p.P63A	Y_RNA_ENST00000362766.1_RNA	NM_018439.3	NP_060909	Q9P2X3	IMPCT_HUMAN	impact RWD domain protein	63	RWD. {ECO:0000255|PROSITE- ProRule:PRU00179}.				negative regulation of protein phosphorylation (GO:0001933)|regulation of translational initiation (GO:0006446)	cytoplasm (GO:0005737)				endometrium(1)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(2)	16	all_cancers(21;0.00018)|all_epithelial(16;1.5e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)					GAATGAATACCCAGGTACAGC	0.353																																						uc002kvh.3		NaN																	0					0						c.(187-189)CCA>GCA		Impact homolog							120.0	108.0	112.0					18																	22008854		2203	4300	6503	SO:0001583	missense	55364							g.chr18:22008854C>G	AB026264	CCDS11886.1	18q11.2-q12.1	2012-12-07	2012-12-07		ENSG00000154059	ENSG00000154059			20387	protein-coding gene	gene with protein product	"""RWD domain containing 5"""	615319	"""Impact homolog (mouse)"""			11116084	Standard	NM_018439		Approved	RWDD5	uc002kvh.4	Q9P2X3	OTTHUMG00000131943	ENST00000284202.4:c.187C>G	18.37:g.22008854C>G	ENSP00000284202:p.Pro63Ala					IMPACT_uc002kvg.3_Missense_Mutation_p.P45A	p.P63A	NM_018439	NP_060909	Q9P2X3	IMPCT_HUMAN			3	299	+	all_cancers(21;0.00018)|all_epithelial(16;1.5e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)		63			RWD.		A8MXG0|Q49AM0|Q9H2X4	Missense_Mutation	SNP	ENST00000284202.4	37	c.187C>G	CCDS11886.1	.	.	.	.	.	.	.	.	.	.	C	13.44	2.237843	0.39598	.	.	ENSG00000154059	ENST00000284202	D	0.93763	-3.28	4.95	4.95	0.65309	Ubiquitin-conjugating enzyme/RWD-like (2);RWD domain (3);	0.000000	0.85682	D	0.000000	D	0.97368	0.9139	M	0.92169	3.28	0.80722	D	1	D	0.59767	0.986	D	0.68621	0.959	D	0.98300	1.0518	10	0.72032	D	0.01	.	17.304	0.87190	0.0:1.0:0.0:0.0	.	63	Q9P2X3	IMPCT_HUMAN	A	63	ENSP00000284202:P63A	ENSP00000284202:P63A	P	+	1	0	IMPACT	20262852	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.856000	0.69518	2.434000	0.82447	0.561000	0.74099	CCA		0.353	IMPACT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254901.1		NM_018439		12	48	0	0	0	1	0	12	48		
MYO5B	4645	broad.mit.edu	37	18	47404156	47404156	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr18:47404156C>T	ENST00000285039.7	-	25	3672	c.3373G>A	c.(3373-3375)Gag>Aag	p.E1125K	MYO5B_ENST00000587895.1_5'Flank|MYO5B_ENST00000324581.6_Missense_Mutation_p.E266K	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1125					endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		AGGGCATCCTCAGTGTCTCCG	0.512																																						uc002leb.2		NaN																	0				ovary(2)|skin(2)|central_nervous_system(1)	5						c.(3373-3375)GAG>AAG		myosin VB							170.0	168.0	169.0					18																	47404156		1996	4176	6172	SO:0001583	missense	4645				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr18:47404156C>T	AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"""Myosins / Myosin superfamily : Class V"""	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.3373G>A	18.37:g.47404156C>T	ENSP00000285039:p.Glu1125Lys					MYO5B_uc002lea.2_Missense_Mutation_p.E266K	p.E1125K	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN		READ - Rectum adenocarcinoma(32;0.103)	25	3661	-			1125			Potential.		B0I1R3|Q0P656|Q9H6Y6	Missense_Mutation	SNP	ENST00000285039.7	37	c.3373G>A	CCDS42436.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.761311	0.89932	.	.	ENSG00000167306	ENST00000285039;ENST00000324581	T;T	0.25579	1.79;1.79	5.9	5.9	0.94986	.	0.055231	0.64402	D	0.000001	T	0.27349	0.0671	N	0.08118	0	0.80722	D	1	P;D	0.64830	0.588;0.994	B;P	0.56960	0.269;0.81	T	0.11299	-1.0593	10	0.22706	T	0.39	.	19.8926	0.96935	0.0:1.0:0.0:0.0	.	1125;266	Q9ULV0;Q9H6Y6	MYO5B_HUMAN;.	K	1125;266	ENSP00000285039:E1125K;ENSP00000315531:E266K	ENSP00000285039:E1125K	E	-	1	0	MYO5B	45658154	1.000000	0.71417	0.960000	0.40013	0.313000	0.28021	7.199000	0.77831	2.806000	0.96561	0.655000	0.94253	GAG		0.512	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2				53	28	0	0	0	1	0	53	28		
SERPINB2	5055	broad.mit.edu	37	18	61570328	61570328	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr18:61570328G>A	ENST00000299502.4	+	8	1117	c.1037G>A	c.(1036-1038)aGg>aAg	p.R346K	SERPINB2_ENST00000457692.1_Missense_Mutation_p.R346K	NM_002575.2	NP_002566.1	P05120	PAI2_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 2	346					blood coagulation (GO:0007596)|fibrinolysis (GO:0042730)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Tenecteplase(DB00031)|Urokinase(DB00013)	ATGTCGGAGAGGAATGACCTG	0.507																																						uc010xeu.1		NaN																	0				lung(1)|skin(1)	2						c.(1036-1038)AGG>AAG		serine (or cysteine) proteinase inhibitor, clade	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)						139.0	113.0	122.0					18																	61570328		2203	4300	6503	SO:0001583	missense	5055				anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	extracellular space|Golgi apparatus|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr18:61570328G>A	Y00630	CCDS11989.1	18q21.3	2014-02-18	2005-08-18		ENSG00000197632	ENSG00000197632		"""Serine (or cysteine) peptidase inhibitors"""	8584	protein-coding gene	gene with protein product		173390	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 2"""	PLANH2, PAI2		24172014	Standard	NM_002575		Approved	HsT1201	uc002ljo.3	P05120	OTTHUMG00000060592	ENST00000299502.4:c.1037G>A	18.37:g.61570328G>A	ENSP00000299502:p.Arg346Lys					SERPINB2_uc002ljo.2_Missense_Mutation_p.R346K|SERPINB2_uc010dqh.2_Missense_Mutation_p.R276K|SERPINB2_uc002ljp.1_Intron|SERPINB2_uc002ljq.1_Intron	p.R346K	NM_001143818	NP_001137290	P05120	PAI2_HUMAN			9	1370	+		Esophageal squamous(42;0.131)	346					Q96E96	Missense_Mutation	SNP	ENST00000299502.4	37	c.1037G>A	CCDS11989.1	.	.	.	.	.	.	.	.	.	.	G	1.645	-0.515385	0.04200	.	.	ENSG00000197632	ENST00000299502;ENST00000457692	T;T	0.10382	2.88;2.88	5.64	-1.99	0.07457	Serpin domain (3);	1.798850	0.04352	U	0.355870	T	0.03095	0.0091	N	0.01656	-0.775	0.09310	N	0.999998	B	0.02656	0.0	B	0.04013	0.001	T	0.38628	-0.9652	10	0.02654	T	1	.	6.1565	0.20340	0.5267:0.261:0.2123:0.0	.	346	P05120	PAI2_HUMAN	K	346	ENSP00000299502:R346K;ENSP00000401645:R346K	ENSP00000299502:R346K	R	+	2	0	SERPINB2	59721308	0.000000	0.05858	0.000000	0.03702	0.511000	0.34104	-0.692000	0.05127	-0.360000	0.08138	0.557000	0.71058	AGG		0.507	SERPINB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134009.1		NM_002575		8	28	0	0	0	1	0	8	28		
CDH7	1005	broad.mit.edu	37	18	63526160	63526160	+	Splice_Site	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr18:63526160G>C	ENST00000397968.2	+	9	1798		c.e9-1		CDH7_ENST00000536984.2_Splice_Site|CDH7_ENST00000323011.3_Splice_Site	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2						adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				TTATTTATTAGAGAATCCATC	0.373																																						uc002ljz.2		NaN																	0				ovary(2)|pancreas(1)|skin(1)	4						c.e9-1		cadherin 7, type 2 preproprotein							65.0	61.0	62.0					18																	63526160		2203	4300	6503	SO:0001630	splice_region_variant	1005				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:63526160G>C	AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"""Cadherins / Major cadherins"""	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.1373-1G>C	18.37:g.63526160G>C						CDH7_uc002lka.2_Splice_Site_p.Q458_splice|CDH7_uc002lkb.2_Splice_Site_p.Q458_splice	p.Q458_splice	NM_033646	NP_387450	Q9ULB5	CADH7_HUMAN			9	1698	+		Esophageal squamous(42;0.129)						Q9H157	Splice_Site	SNP	ENST00000397968.2	37	c.1373_splice	CCDS11993.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.047130	0.75846	.	.	ENSG00000081138	ENST00000323011;ENST00000536984;ENST00000397966;ENST00000397968	.	.	.	5.32	5.32	0.75619	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.347	0.94367	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CDH7	61677140	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	9.026000	0.93700	2.648000	0.89879	0.467000	0.42956	.		0.373	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256217.2		NM_033646	Intron	13	20	0	0	0	1	0	13	20		
NETO1	81832	broad.mit.edu	37	18	70532056	70532056	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr18:70532056G>C	ENST00000327305.6	-	3	864	c.207C>G	c.(205-207)atC>atG	p.I69M	NETO1_ENST00000580049.1_5'UTR|NETO1_ENST00000299430.2_Missense_Mutation_p.I68M|NETO1_ENST00000397929.1_Missense_Mutation_p.I68M|NETO1_ENST00000583169.1_Missense_Mutation_p.I69M	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	69	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				memory (GO:0007613)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|receptor localization to synapse (GO:0097120)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|visual learning (GO:0008542)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)				NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		CTATGATGTAGATGCATTCCC	0.473																																						uc002lkw.2		NaN																	0				ovary(2)|skin(2)	4						c.(205-207)ATC>ATG		neuropilin- and tolloid-like protein 1 isoform 3							112.0	102.0	105.0					18																	70532056		2203	4300	6503	SO:0001583	missense	81832				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity	g.chr18:70532056G>C	AF448838	CCDS12000.1, CCDS42444.1	18q22.2	2008-08-01			ENSG00000166342	ENSG00000166342			13823	protein-coding gene	gene with protein product		607973				11943477, 12810072	Standard	NM_138999		Approved	BTCL1, BCTL1	uc002lkw.3	Q8TDF5	OTTHUMG00000132834	ENST00000327305.6:c.207C>G	18.37:g.70532056G>C	ENSP00000313088:p.Ile69Met					NETO1_uc002lkx.1_Missense_Mutation_p.I68M|NETO1_uc002lky.1_Missense_Mutation_p.I69M|NETO1_uc002lkz.2_Missense_Mutation_p.I68M	p.I69M	NM_138966	NP_620416	Q8TDF5	NETO1_HUMAN		READ - Rectum adenocarcinoma(1;0.0487)	3	491	-		Esophageal squamous(42;0.129)	69			CUB 1.|Extracellular (Potential).		Q86W85|Q8ND78|Q8TDF4	Missense_Mutation	SNP	ENST00000327305.6	37	c.207C>G	CCDS12000.1	.	.	.	.	.	.	.	.	.	.	G	16.88	3.243975	0.58995	.	.	ENSG00000166342	ENST00000327305;ENST00000299430;ENST00000397929	T;T;T	0.35605	1.3;1.3;1.56	5.71	3.64	0.41730	CUB (5);	0.201199	0.33217	N	0.005154	T	0.45955	0.1368	M	0.66506	2.035	0.45194	D	0.998203	P;B;B	0.35908	0.527;0.343;0.248	P;B;P	0.46825	0.452;0.262;0.528	T	0.43605	-0.9381	10	0.87932	D	0	-6.2688	9.5383	0.39235	0.0927:0.1356:0.7717:0.0	.	68;68;69	Q8TDF5-1;Q8TDF5-2;Q8TDF5	.;.;NETO1_HUMAN	M	69;68;68	ENSP00000313088:I69M;ENSP00000299430:I68M;ENSP00000381024:I68M	ENSP00000299430:I68M	I	-	3	3	NETO1	68683036	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.322000	0.43814	0.656000	0.30886	0.655000	0.94253	ATC		0.473	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256301.2		NM_138999		17	36	0	0	0	1	0	17	36		
CNDP1	84735	broad.mit.edu	37	18	72226648	72226648	+	Missense_Mutation	SNP	G	G	T	rs370042652		TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr18:72226648G>T	ENST00000358821.3	+	3	472	c.244G>T	c.(244-246)Gcg>Tcg	p.A82S	CNDP1_ENST00000585136.1_3'UTR|RP11-231E4.3_ENST00000583702.1_RNA|CNDP1_ENST00000582365.1_Missense_Mutation_p.A39S	NM_032649.5	NP_116038	Q96KN2	CNDP1_HUMAN	carnosine dipeptidase 1 (metallopeptidase M20 family)	82						extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|tripeptidase activity (GO:0034701)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		GGCCGTGGCTGCGGACACGCT	0.622																																					Melanoma(32;1029 1042 25286 38395 44237)	uc002llq.2		NaN																	0					0						c.(244-246)GCG>TCG		carnosinase 1 precursor							76.0	69.0	71.0					18																	72226648		2203	4300	6503	SO:0001583	missense	84735				proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity	g.chr18:72226648G>T		CCDS12007.1	18q22.3	2014-07-14			ENSG00000150656	ENSG00000150656	3.4.13.20		20675	protein-coding gene	gene with protein product	"""carnosinase 1"", ""glutamate carboxypeptidase-like protein 2"""	609064				12473676	Standard	NM_032649		Approved	MGC10825, CN1, CPGL2, HsT2308	uc002llq.3	Q96KN2	OTTHUMG00000132852	ENST00000358821.3:c.244G>T	18.37:g.72226648G>T	ENSP00000351682:p.Ala82Ser					uc002llr.2_RNA	p.A82S	NM_032649	NP_116038	Q96KN2	CNDP1_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.109)	3	455	+		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)	82					Q14D40|Q17S05|Q2TBG0|Q6UWK2|Q9BT98	Missense_Mutation	SNP	ENST00000358821.3	37	c.244G>T	CCDS12007.1	.	.	.	.	.	.	.	.	.	.	G	12.59	1.984145	0.35036	.	.	ENSG00000150656	ENST00000358821	T	0.09538	2.97	5.37	4.5	0.54988	.	0.000000	0.85682	D	0.000000	T	0.23210	0.0561	M	0.79258	2.445	0.38086	D	0.936814	B	0.26041	0.14	B	0.42653	0.394	T	0.06752	-1.0809	10	0.59425	D	0.04	-16.9141	9.7085	0.40231	0.1586:0.0:0.8414:0.0	.	82	Q96KN2	CNDP1_HUMAN	S	82	ENSP00000351682:A82S	ENSP00000351682:A82S	A	+	1	0	CNDP1	70377628	0.893000	0.30496	0.011000	0.14972	0.002000	0.02628	3.381000	0.52455	1.268000	0.44264	0.643000	0.83706	GCG		0.622	CNDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256326.1		NM_032649		5	51	1	0	0.000602214	1	0.000612452	5	51		
ZNF407	55628	broad.mit.edu	37	18	72345042	72345042	+	Silent	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr18:72345042C>A	ENST00000299687.5	+	1	2067	c.2067C>A	c.(2065-2067)tcC>tcA	p.S689S	ZNF407_ENST00000577538.1_Silent_p.S689S|ZNF407_ENST00000309902.6_Silent_p.S689S|ZNF407_ENST00000582337.1_Silent_p.S689S	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	689					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		CTCTGAAGTCCAGGGTAAGCC	0.398																																						uc002llw.2		NaN																	0				ovary(2)	2						c.(2065-2067)TCC>TCA		zinc finger protein 407 isoform 1							58.0	57.0	58.0					18																	72345042		1857	4104	5961	SO:0001819	synonymous_variant	55628				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:72345042C>A	AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"""Zinc fingers, C2H2-type"""	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.2067C>A	18.37:g.72345042C>A						ZNF407_uc010xfc.1_Silent_p.S689S|ZNF407_uc010dqu.1_Silent_p.S689S|ZNF407_uc002llu.2_Silent_p.S688S	p.S689S	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.184)	1	2124	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	689					B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Silent	SNP	ENST00000299687.5	37	c.2067C>A	CCDS45885.1																																																																																				0.398	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1		NM_017757		11	33	1	0	6.40141e-05	1	6.58264e-05	11	33		
PTBP1	5725	broad.mit.edu	37	19	804643	804643	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:804643G>A	ENST00000349038.4	+	6	620	c.547G>A	c.(547-549)Gtg>Atg	p.V183M	PTBP1_ENST00000350092.4_Intron|MIR4745_ENST00000577608.1_RNA|PTBP1_ENST00000356948.6_Missense_Mutation_p.V183M|PTBP1_ENST00000394601.4_Missense_Mutation_p.V183M	NM_031991.3	NP_114368.1	P26599	PTBP1_HUMAN	polypyrimidine tract binding protein 1	183					alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|negative regulation of muscle cell differentiation (GO:0051148)|negative regulation of RNA splicing (GO:0033119)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly-pyrimidine tract binding (GO:0008187)|pre-mRNA binding (GO:0036002)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCAGAGCCCCGTGCTCAGGAT	0.677																																						uc002lpr.2		NaN																	0				kidney(1)|skin(1)	2						c.(547-549)GTG>ATG		polypyrimidine tract-binding protein 1 isoform							61.0	59.0	60.0					19																	804643		2203	4300	6503	SO:0001583	missense	5725				negative regulation of muscle cell differentiation|nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	mRNA binding|nucleotide binding|poly-pyrimidine tract binding|protein binding	g.chr19:804643G>A	X60648	CCDS32859.1, CCDS42456.1, CCDS45892.1	19p13.3	2013-07-16	2002-01-25	2002-01-25	ENSG00000011304	ENSG00000011304		"""RNA binding motif (RRM) containing"""	9583	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein I"""	600693	"""polypyrimidine tract binding protein (heterogeneous nuclear ribonucleoprotein I)"""	PTB		1906036, 11024286	Standard	NM_002819		Approved	HNRPI, HNRNP-I, PTB2, PTB3, PTB-1, PTB4, pPTB	uc002lpp.2	P26599		ENST00000349038.4:c.547G>A	19.37:g.804643G>A	ENSP00000014112:p.Val183Met					PTBP1_uc002lpp.2_Missense_Mutation_p.V183M|PTBP1_uc002lpq.2_Missense_Mutation_p.V183M|PTBP1_uc002lps.2_Intron|PTBP1_uc002lpt.2_RNA|PTBP1_uc002lpu.1_Missense_Mutation_p.V153M	p.V183M	NM_031991	NP_114368	P26599	PTBP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	6	653	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	183					Q9BUQ0	Missense_Mutation	SNP	ENST00000349038.4	37	c.547G>A	CCDS32859.1	.	.	.	.	.	.	.	.	.	.	G	16.27	3.075338	0.55646	.	.	ENSG00000011304	ENST00000356948;ENST00000394601;ENST00000349038	T;T;T	0.60171	0.21;0.24;0.64	4.81	3.78	0.43462	Nucleotide-binding, alpha-beta plait (1);	0.000000	0.85682	D	0.000000	T	0.75087	0.3802	M	0.81341	2.54	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.994;0.998;0.997	T	0.78028	-0.2364	10	0.87932	D	0	-36.3295	11.8603	0.52461	0.0843:0.0:0.9157:0.0	.	183;183;183	P26599;P26599-2;Q9BUQ0	PTBP1_HUMAN;.;.	M	183	ENSP00000349428:V183M;ENSP00000408096:V183M;ENSP00000014112:V183M	ENSP00000014112:V183M	V	+	1	0	PTBP1	755643	1.000000	0.71417	0.099000	0.21106	0.473000	0.32948	7.792000	0.85828	1.027000	0.39758	0.655000	0.94253	GTG		0.677	PTBP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457605.1				18	25	0	0	0	1	0	18	25		
KLF16	83855	broad.mit.edu	37	19	1863162	1863162	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:1863162G>C	ENST00000250916.4	-	1	405	c.335C>G	c.(334-336)tCg>tGg	p.S112W	CTB-31O20.8_ENST00000586694.1_RNA|KLF16_ENST00000592313.1_5'Flank	NM_031918.3	NP_114124.1	Q9BXK1	KLF16_HUMAN	Kruppel-like factor 16	112	Ala/Pro-rich.|Ser-rich.				dopamine receptor signaling pathway (GO:0007212)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|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)			lung(1)	1		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ggcgcggcccgaggacgggga	0.771																																						uc002luc.2		NaN																	0					0						c.(334-336)TCG>TGG		BTE-binding protein 4							11.0	12.0	11.0					19																	1863162		1864	3537	5401	SO:0001583	missense	83855					nucleus	DNA binding|zinc ion binding	g.chr19:1863162G>C	AF327440	CCDS12075.1	19p13.3	2013-10-15			ENSG00000129911	ENSG00000129911		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	16857	protein-coding gene	gene with protein product		606139				11438660	Standard	NM_031918		Approved	NSLP2, BTEB4, DRRF	uc002luc.3	Q9BXK1	OTTHUMG00000179994	ENST00000250916.4:c.335C>G	19.37:g.1863162G>C	ENSP00000250916:p.Ser112Trp					KLF16_uc010xgt.1_RNA	p.S112W	NM_031918	NP_114124	Q9BXK1	KLF16_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	1	403	-		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)	112			Ser-rich.|Ala/Pro-rich.			Missense_Mutation	SNP	ENST00000250916.4	37	c.335C>G	CCDS12075.1	.	.	.	.	.	.	.	.	.	.	g	11.64	1.700258	0.30142	.	.	ENSG00000129911	ENST00000250916;ENST00000541015	T;T	0.12465	2.68;2.68	1.14	1.14	0.20703	.	.	.	.	.	T	0.22322	0.0538	L	0.60455	1.87	0.09310	N	0.999999	D	0.69078	0.997	P	0.54401	0.751	T	0.07849	-1.0751	9	0.66056	D	0.02	.	8.2056	0.31454	0.0:0.0:1.0:0.0	.	112	Q9BXK1	KLF16_HUMAN	W	112	ENSP00000250916:S112W;ENSP00000439973:S112W	ENSP00000250916:S112W	S	-	2	0	KLF16	1814162	0.047000	0.20315	0.003000	0.11579	0.032000	0.12392	1.250000	0.32850	0.936000	0.37367	0.418000	0.28097	TCG		0.771	KLF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449214.1				2	0	0	0	0	1	0	2	0		
DOT1L	84444	broad.mit.edu	37	19	2217074	2217074	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:2217074G>C	ENST00000398665.3	+	21	2565	c.2529G>C	c.(2527-2529)gaG>gaC	p.E843D	AC004490.1_ENST00000585593.1_RNA	NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	843					histone lysine methylation (GO:0034968)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription regulatory region DNA binding (GO:2000677)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TTGCTGGAGAGAAGAGCAGTG	0.687																																						uc002lvb.3		NaN																	0				pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	4						c.(2527-2529)GAG>GAC		DOT1-like, histone H3 methyltransferase							23.0	26.0	25.0					19																	2217074		1988	4154	6142	SO:0001583	missense	84444					nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding	g.chr19:2217074G>C	AF509504	CCDS42460.1	19p13.3	2013-05-21	2013-05-21		ENSG00000104885	ENSG00000104885	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"""	24948	protein-coding gene	gene with protein product	"""histone methyltransferase DOT1L"""	607375	"""DOT1-like, histone H3 methyltransferase (S. cerevisiae)"""			11347906, 12123582	Standard	NM_032482		Approved	KIAA1814, DOT1, KMT4	uc002lvb.4	Q8TEK3	OTTHUMG00000150431	ENST00000398665.3:c.2529G>C	19.37:g.2217074G>C	ENSP00000381657:p.Glu843Asp					DOT1L_uc002lvc.1_Missense_Mutation_p.E137D|uc002lvd.1_5'Flank|DOT1L_uc002lve.1_Missense_Mutation_p.E137D	p.E843D	NM_032482	NP_115871	Q8TEK3	DOT1L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	21	2565	+		Hepatocellular(1079;0.137)	843					O60379|Q96JL1	Missense_Mutation	SNP	ENST00000398665.3	37	c.2529G>C	CCDS42460.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.80|16.80	3.222994|3.222994	0.58668|0.58668	.|.	.|.	ENSG00000104885|ENSG00000104885	ENST00000398665;ENST00000221482|ENST00000440640	T|.	0.26223|.	1.75|.	5.32|5.32	0.813|0.813	0.18749|0.18749	.|.	0.398811|.	0.28606|.	N|.	0.014741|.	T|T	0.49813|0.49813	0.1579|0.1579	M|M	0.61703|0.61703	1.905|1.905	0.27362|0.27362	N|N	0.955929|0.955929	D;D|.	0.76494|.	0.999;0.997|.	D;P|.	0.76071|.	0.987;0.851|.	T|T	0.44406|0.44406	-0.9330|-0.9330	10|5	0.87932|.	D|.	0|.	-31.5864|-31.5864	9.4834|9.4834	0.38915|0.38915	0.2673:0.0:0.7327:0.0|0.2673:0.0:0.7327:0.0	.|.	843;843|.	Q8TEK3;Q8TEK3-2|.	DOT1L_HUMAN;.|.	D|T	843|630	ENSP00000381657:E843D|.	ENSP00000221482:E843D|.	E|R	+|+	3|2	2|0	DOT1L|DOT1L	2168074|2168074	1.000000|1.000000	0.71417|0.71417	0.597000|0.597000	0.28824|0.28824	0.382000|0.382000	0.30200|0.30200	2.221000|2.221000	0.42917|0.42917	0.002000|0.002000	0.14630|0.14630	0.561000|0.561000	0.74099|0.74099	GAG|AGA		0.687	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318066.1		NM_032482		6	16	0	0	0	1	0	6	16		
DPP9	91039	broad.mit.edu	37	19	4689638	4689638	+	Missense_Mutation	SNP	C	C	T	rs370177829		TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:4689638C>T	ENST00000598800.1	-	16	2111	c.1606G>A	c.(1606-1608)Ggc>Agc	p.G536S	DPP9_ENST00000262960.9_Missense_Mutation_p.G565S|DPP9_ENST00000594671.1_Missense_Mutation_p.G536S			Q86TI2	DPP9_HUMAN	dipeptidyl-peptidase 9	536						cytoplasm (GO:0005737)|membrane (GO:0016020)	aminopeptidase activity (GO:0004177)|identical protein binding (GO:0042802)|serine-type peptidase activity (GO:0008236)			cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		ACGATCTCGCCGGCCGCCTCA	0.652													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18356	0.0		0.0	False		,,,				2504	0.0					uc002mba.2		NaN																	0				skin(1)	1						c.(1693-1695)GGC>AGC		dipeptidylpeptidase 9		C	SER/GLY	0,4170		0,0,2085	47.0	55.0	53.0		1693	3.0	0.5	19		53	1,8377		0,1,4188	no	missense	DPP9	NM_139159.4	56	0,1,6273	TT,TC,CC		0.0119,0.0,0.0080	benign	565/893	4689638	1,12547	2085	4189	6274	SO:0001583	missense	91039				proteolysis	cytosol|membrane	aminopeptidase activity|serine-type peptidase activity	g.chr19:4689638C>T	AF452102	CCDS45928.1	19p13.3	2014-06-11	2006-01-12		ENSG00000142002	ENSG00000142002			18648	protein-coding gene	gene with protein product		608258	"""dipeptidylpeptidase 9"""				Standard	NM_139159		Approved		uc002mba.3	Q86TI2	OTTHUMG00000182040	ENST00000598800.1:c.1606G>A	19.37:g.4689638C>T	ENSP00000469603:p.Gly536Ser						p.G565S	NM_139159	NP_631898	Q86TI2	DPP9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)	15	1951	-		Hepatocellular(1079;0.137)	536					O75273|O75868|Q1ZZB8|Q6AI37|Q6UAL0|Q6ZMT2|Q6ZNJ5|Q8N2J7|Q8N3F5|Q8WXD8|Q96NT8|Q9BVR3	Missense_Mutation	SNP	ENST00000598800.1	37	c.1693G>A		.	.	.	.	.	.	.	.	.	.	C	16.76	3.210990	0.58343	0.0	1.19E-4	ENSG00000142002	ENST00000357909;ENST00000381797;ENST00000262960	T	0.33438	1.41	4.05	3.01	0.34805	.	0.122019	0.56097	N	0.000034	T	0.28433	0.0703	L	0.31294	0.92	0.80722	D	1	P	0.41366	0.747	P	0.46940	0.532	T	0.03212	-1.1060	10	0.40728	T	0.16	-26.5808	11.2041	0.48758	0.0:0.9091:0.0:0.0909	.	565	Q1ZZB8	.	S	644;506;565	ENSP00000262960:G565S	ENSP00000262960:G565S	G	-	1	0	DPP9	4640638	0.996000	0.38824	0.523000	0.27875	0.399000	0.30720	3.821000	0.55700	1.058000	0.40530	0.549000	0.68633	GGC		0.652	DPP9-026	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000459343.2				2	2	0	0	0	1	0	2	2		
RANBP3	8498	broad.mit.edu	37	19	5927994	5927994	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:5927994C>G	ENST00000340578.6	-	9	855	c.798G>C	c.(796-798)ttG>ttC	p.L266F	RANBP3_ENST00000541471.1_Missense_Mutation_p.L138F|RANBP3_ENST00000439268.2_Missense_Mutation_p.L261F|RANBP3_ENST00000034275.8_Missense_Mutation_p.L198F|RANBP3_ENST00000591092.1_Missense_Mutation_p.L193F	NM_003624.2|NM_007320.2|NM_007322.2	NP_003615.2|NP_015559.2|NP_015561.1	Q9H6Z4	RANB3_HUMAN	RAN binding protein 3	266					intracellular transport (GO:0046907)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	R-SMAD binding (GO:0070412)|Ran GTPase binding (GO:0008536)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	18						CTCTGTCCCTCAAGTTCTGCC	0.463																																						uc002mdw.2		NaN																	0				breast(1)	1						c.(796-798)TTG>TTC		RAN binding protein 3 isoform RANBP3-d							127.0	131.0	129.0					19																	5927994		1934	4144	6078	SO:0001583	missense	8498				intracellular transport|protein transport	cytoplasm|nucleus	Ran GTPase binding	g.chr19:5927994C>G	Y08698	CCDS42477.1, CCDS42478.1, CCDS45935.1, CCDS74268.1	19p13.3	2008-02-05							9850	protein-coding gene	gene with protein product		603327				9637251	Standard	NM_007322		Approved		uc002mdw.3	Q9H6Z4		ENST00000340578.6:c.798G>C	19.37:g.5927994C>G	ENSP00000341483:p.Leu266Phe					RANBP3_uc002mdv.2_5'UTR|RANBP3_uc002mdx.2_Missense_Mutation_p.L261F|RANBP3_uc002mdy.2_Missense_Mutation_p.L198F|RANBP3_uc002mdz.2_Missense_Mutation_p.L193F|RANBP3_uc010duq.2_Missense_Mutation_p.L171F|RANBP3_uc002mea.2_Missense_Mutation_p.L133F|RANBP3_uc010xix.1_Missense_Mutation_p.L138F	p.L266F	NM_007322	NP_015561	Q9H6Z4	RANB3_HUMAN			9	1025	-			266					B2RAT8|O60405|O75759|O75760|Q9BT47|Q9UG74	Missense_Mutation	SNP	ENST00000340578.6	37	c.798G>C	CCDS42478.1	.	.	.	.	.	.	.	.	.	.	C	18.43	3.623080	0.66901	.	.	ENSG00000031823	ENST00000340578;ENST00000439268;ENST00000034275;ENST00000324807;ENST00000541471	T;T;T;T	0.35421	1.32;1.31;2.11;1.4	5.4	4.35	0.52113	.	0.145138	0.49305	D	0.000141	T	0.52008	0.1708	M	0.65975	2.015	0.46222	D	0.998934	D;D;P;P;D;D;D	0.69078	0.968;0.995;0.947;0.947;0.968;0.997;0.995	P;P;P;P;P;D;P	0.65010	0.774;0.856;0.567;0.567;0.75;0.931;0.856	T	0.48281	-0.9049	10	0.21540	T	0.41	-11.6943	12.2005	0.54321	0.0:0.9156:0.0:0.0844	.	138;261;138;193;198;261;266	F5H4C2;Q53GE1;B7Z5P4;B7Z7F3;Q9H6Z4-3;Q9H6Z4-2;Q9H6Z4	.;.;.;.;.;.;RANB3_HUMAN	F	266;261;198;197;138	ENSP00000341483:L266F;ENSP00000404837:L261F;ENSP00000034275:L198F;ENSP00000445071:L138F	ENSP00000034275:L198F	L	-	3	2	RANBP3	5878994	1.000000	0.71417	0.997000	0.53966	0.915000	0.54546	0.783000	0.26802	1.257000	0.44085	0.655000	0.94253	TTG		0.463	RANBP3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452304.1		NM_007322		74	55	0	0	0	1	0	74	55		
TUBB4A	10382	broad.mit.edu	37	19	6495749	6495749	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:6495749G>C	ENST00000264071.2	-	4	1132	c.761C>G	c.(760-762)gCc>gGc	p.A254G	CTD-2396E7.10_ENST00000596027.1_RNA|TUBB4A_ENST00000540257.1_Missense_Mutation_p.A254G|CTD-2396E7.9_ENST00000599292.1_RNA			P04350	TBB4A_HUMAN	tubulin, beta 4A class IVa	254					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|internode region of axon (GO:0033269)|microtubule (GO:0005874)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.A254D(1)									CATGTTGACGGCCAGCTTGCG	0.682																																						uc002mfg.1		NaN																	1	Substitution - Missense(1)		endometrium(1)	ovary(2)	2						c.(760-762)GCC>GGC		tubulin, beta 4							56.0	54.0	55.0					19																	6495749		2203	4299	6502	SO:0001583	missense	10382				'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr19:6495749G>C	AK075307	CCDS12168.1	19p13.3	2014-02-05	2011-10-11	2011-10-10	ENSG00000104833	ENSG00000104833		"""Tubulins"""	20774	protein-coding gene	gene with protein product	"""class IVa beta-tubulin"""	602662	"""tubulin, beta 4"", ""tubulin, beta 4 class IVa"", ""dystonia 4, torsion (autosomal dominant)"""	TUBB4, DYT4		6865944, 6462917, 23595291	Standard	NM_001289123		Approved	beta-5	uc002mfg.1	P04350		ENST00000264071.2:c.761C>G	19.37:g.6495749G>C	ENSP00000264071:p.Ala254Gly					TUBB4_uc002mff.1_Missense_Mutation_p.A182G|MIR220B_hsa-mir-220b|MI0005529_5'Flank	p.A254G	NM_006087	NP_006078	P04350	TBB4_HUMAN		Lung(535;3.23e-05)|STAD - Stomach adenocarcinoma(1328;8.24e-05)|GBM - Glioblastoma multiforme(1328;0.00839)|READ - Rectum adenocarcinoma(264;0.155)	4	868	-		Hepatocellular(1079;0.00213)|Renal(1328;0.0183)	254					B3KQP4|Q969E5	Missense_Mutation	SNP	ENST00000264071.2	37	c.761C>G	CCDS12168.1	.	.	.	.	.	.	.	.	.	.	G	12.14	1.848768	0.32699	.	.	ENSG00000104833	ENST00000264071;ENST00000540257;ENST00000412858	D;D	0.84730	-1.89;-1.89	3.95	3.95	0.45737	.	0.000000	0.64402	D	0.000002	D	0.86163	0.5867	M	0.83603	2.65	0.58432	D	0.999992	B	0.10296	0.003	B	0.12837	0.008	D	0.85939	0.1457	10	0.87932	D	0	.	14.8127	0.70008	0.0:0.0:1.0:0.0	.	254	P04350	TBB4A_HUMAN	G	254;254;172	ENSP00000264071:A254G;ENSP00000443590:A254G	ENSP00000264071:A254G	A	-	2	0	TUBB4	6446749	1.000000	0.71417	0.998000	0.56505	0.849000	0.48306	9.593000	0.98250	1.750000	0.51863	0.485000	0.47835	GCC		0.682	TUBB4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457841.1		NM_006087		18	110	0	0	0	1	0	18	110		
TNFSF14	8740	broad.mit.edu	37	19	6665079	6665079	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:6665079G>A	ENST00000599359.1	-	5	962	c.581C>T	c.(580-582)tCc>tTc	p.S194F	TNFSF14_ENST00000326176.9_Missense_Mutation_p.S158F|TNFSF14_ENST00000245912.3_Missense_Mutation_p.S158F			O43557	TNF14_HUMAN	tumor necrosis factor (ligand) superfamily, member 14	194					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of T cell chemotaxis (GO:0010820)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|receptor binding (GO:0005102)			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						CCAGACCCGGGAGCTGCTGGT	0.657																																						uc002mfk.1		NaN																	0				skin(1)	1						c.(580-582)TCC>TTC		tumor necrosis factor ligand superfamily, member							72.0	63.0	66.0					19																	6665079		2203	4300	6503	SO:0001583	missense	8740				cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation	cytoplasm|extracellular space|integral to membrane|plasma membrane	caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding	g.chr19:6665079G>A	AF036581	CCDS12171.1, CCDS45939.1	19p13.3	2008-02-05				ENSG00000125735		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11930	protein-coding gene	gene with protein product		604520				9462508	Standard	NM_172014		Approved	LIGHT, LTg, HVEM-L, CD258	uc002mfk.2	O43557		ENST00000599359.1:c.581C>T	19.37:g.6665079G>A	ENSP00000469049:p.Ser194Phe					TNFSF14_uc002mfj.1_Missense_Mutation_p.S158F	p.S194F	NM_003807	NP_003798	O43557	TNF14_HUMAN			5	963	-			194			Extracellular (Potential).		A8K7M2|C9J5H4|O75476|Q6FHA1|Q8WVF8|Q96LD2	Missense_Mutation	SNP	ENST00000599359.1	37	c.581C>T	CCDS12171.1	.	.	.	.	.	.	.	.	.	.	G	11.15	1.552625	0.27739	.	.	ENSG00000125735	ENST00000245912;ENST00000326176	D	0.94576	-3.46	4.14	2.01	0.26516	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.900013	0.09437	N	0.802373	D	0.93976	0.8071	M	0.68317	2.08	0.09310	N	1	P;P	0.51057	0.898;0.941	P;B	0.47430	0.547;0.412	D	0.85560	0.1227	10	0.59425	D	0.04	-7.8277	9.2318	0.37441	0.1703:0.0:0.8297:0.0	.	194;158	O43557;O43557-2	TNF14_HUMAN;.	F	194;158	ENSP00000326940:S158F	ENSP00000245912:S194F	S	-	2	0	TNFSF14	6616079	0.024000	0.19004	0.077000	0.20336	0.312000	0.27988	1.359000	0.34113	0.413000	0.25759	0.561000	0.74099	TCC		0.657	TNFSF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457863.1				26	56	0	0	0	1	0	26	56		
PNPLA6	10908	broad.mit.edu	37	19	7615490	7615490	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:7615490G>A	ENST00000221249.6	+	19	2348	c.1917G>A	c.(1915-1917)ctG>ctA	p.L639L	PNPLA6_ENST00000450331.3_Silent_p.L639L|PNPLA6_ENST00000545201.2_Silent_p.L613L|PNPLA6_ENST00000414982.3_Silent_p.L687L|PNPLA6_ENST00000600737.1_Silent_p.L678L|PNPLA6_ENST00000594864.1_3'UTR	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	678				T -> A (in Ref. 2; BAG57380). {ECO:0000305}.	angiogenesis (GO:0001525)|cell death (GO:0008219)|lipid catabolic process (GO:0016042)|organ morphogenesis (GO:0009887)|phosphatidylcholine metabolic process (GO:0046470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						AGAAGGAGCTGGTGGGCGAGT	0.662																																						uc010xjq.1		NaN																	0				ovary(3)	3						c.(2059-2061)CTG>CTA		neuropathy target esterase isoform b							58.0	47.0	50.0					19																	7615490		2203	4300	6503	SO:0001819	synonymous_variant	10908				cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity	g.chr19:7615490G>A	AJ004832	CCDS32891.1, CCDS54206.1, CCDS54207.1, CCDS59343.1	19p13.2	2013-09-11						"""Patatin-like phospholipase domain containing"""	16268	protein-coding gene	gene with protein product	"""neuropathy target esterase"""	603197				9576844, 16799181, 19029121	Standard	NM_006702		Approved	NTE, sws, iPLA2delta, SPG39	uc010xjq.2	Q8IY17		ENST00000221249.6:c.1917G>A	19.37:g.7615490G>A						PNPLA6_uc002mgq.1_Silent_p.L639L|PNPLA6_uc010xjp.1_Silent_p.L613L|PNPLA6_uc002mgr.1_Silent_p.L639L|PNPLA6_uc002mgs.2_Silent_p.L678L	p.L687L	NM_006702	NP_006693	Q8IY17	PLPL6_HUMAN			18	2256	+			678			Cytoplasmic (Potential).|cNMP 3.		A6NGQ0|B4DFB9|B7Z7T2|F5H5K9|J3KQS3|O60859|Q86W58|Q9UG58	Silent	SNP	ENST00000221249.6	37	c.2061G>A	CCDS32891.1																																																																																				0.662	PNPLA6-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459275.1		NM_006702		17	22	0	0	0	1	0	17	22		
OR2Z1	284383	broad.mit.edu	37	19	8841489	8841489	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:8841489C>T	ENST00000324060.2	+	1	174	c.99C>T	c.(97-99)gtC>gtT	p.V33V		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	33						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TGGTGGCTGTCATGTTTGTCA	0.552																																						uc010xkg.1		NaN																	0				central_nervous_system(1)|skin(1)	2						c.(97-99)GTC>GTT		olfactory receptor, family 2, subfamily Z,							127.0	109.0	115.0					19																	8841489		2203	4300	6503	SO:0001819	synonymous_variant	284383				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:8841489C>T	AC008753	CCDS32895.1	19p13.2	2013-09-20	2002-11-13		ENSG00000181733	ENSG00000181733		"""GPCR / Class A : Olfactory receptors"""	15391	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily Z, member 2"""	OR2Z2			Standard	NM_001004699		Approved		uc010xkg.2	Q8NG97	OTTHUMG00000182195	ENST00000324060.2:c.99C>T	19.37:g.8841489C>T							p.V33V	NM_001004699	NP_001004699	Q8NG97	OR2Z1_HUMAN			1	99	+			33			Helical; Name=1; (Potential).		B9EH50|Q6IFK0|Q96R25	Silent	SNP	ENST00000324060.2	37	c.99C>T	CCDS32895.1																																																																																				0.552	OR2Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459954.1				36	66	0	0	0	1	0	36	66		
MUC16	94025	broad.mit.edu	37	19	8969428	8969428	+	Splice_Site	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:8969428C>G	ENST00000397910.4	-	79	43120		c.e79-1		MUC16_ENST00000380951.5_Splice_Site	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated						cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GACTCCATTTCTAGAATTAAA	0.403																																						uc002mkp.2		NaN																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.e79-1		mucin 16							87.0	85.0	86.0					19																	8969428		1893	4122	6015	SO:0001630	splice_region_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:8969428C>G	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.42917-1G>C	19.37:g.8969428C>G						MUC16_uc010dwi.2_Splice_Site|MUC16_uc010dwj.2_Splice_Site_p.E1106_splice|MUC16_uc010xki.1_Splice_Site	p.E14306_splice	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			79	43121	-								Q6ZQW5|Q96RK2	Splice_Site	SNP	ENST00000397910.4	37	c.42917_splice	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	C	11.88	1.770333	0.31320	.	.	ENSG00000181143	ENST00000397910;ENST00000542240;ENST00000380951	.	.	.	4.14	4.14	0.48551	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.2934	0.54831	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MUC16	8830428	0.267000	0.24122	0.364000	0.25888	0.056000	0.15407	2.124000	0.42006	2.027000	0.59764	0.655000	0.94253	.		0.403	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1		NM_024690	Intron	24	16	0	0	0	1	0	24	16		
MUC16	94025	broad.mit.edu	37	19	9083460	9083460	+	Silent	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:9083460C>G	ENST00000397910.4	-	1	8558	c.8355G>C	c.(8353-8355)gtG>gtC	p.V2785V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2785	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTAGTGGCATCACAGATGCCC	0.502																																						uc002mkp.2		NaN																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(8353-8355)GTG>GTC		mucin 16							64.0	62.0	62.0					19																	9083460		1917	4137	6054	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9083460C>G	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.8355G>C	19.37:g.9083460C>G							p.V2785V	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			1	8559	-			2785			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.8355G>C	CCDS54212.1																																																																																				0.502	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1		NM_024690		8	40	0	0	0	1	0	8	40		
TYK2	7297	broad.mit.edu	37	19	10476364	10476364	+	Silent	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:10476364C>G	ENST00000525621.1	-	7	1321	c.840G>C	c.(838-840)ctG>ctC	p.L280L	TYK2_ENST00000529370.1_Silent_p.L280L|TYK2_ENST00000524462.1_Silent_p.L95L|TYK2_ENST00000264818.6_Silent_p.L280L	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	280	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cytokine-mediated signaling pathway (GO:0019221)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			CCAGCAGCCTCAGGTGGCACA	0.687																																						uc002moc.3		NaN																	0				lung(5)|large_intestine(2)|ovary(1)|breast(1)	9						c.(838-840)CTG>CTC		tyrosine kinase 2							19.0	21.0	20.0					19																	10476364		2202	4298	6500	SO:0001819	synonymous_variant	7297				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	g.chr19:10476364C>G		CCDS12236.1	19p13.2	2014-09-17			ENSG00000105397	ENSG00000105397	2.7.10.1		12440	protein-coding gene	gene with protein product		176941				2156206	Standard	NM_003331		Approved	JTK1	uc002moc.4	P29597	OTTHUMG00000166373	ENST00000525621.1:c.840G>C	19.37:g.10476364C>G						TYK2_uc010dxe.2_Silent_p.L95L|TYK2_uc002mod.2_Silent_p.L280L	p.L280L	NM_003331	NP_003322	P29597	TYK2_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)		7	1218	-			280			FERM.		Q6QB10|Q96CH0	Silent	SNP	ENST00000525621.1	37	c.840G>C	CCDS12236.1	.	.	.	.	.	.	.	.	.	.	C	2.191	-0.385386	0.04966	.	.	ENSG00000105397	ENST00000525220	.	.	.	4.66	1.31	0.21738	.	.	.	.	.	.	.	.	.	.	.	0.28859	N	0.89564	.	.	.	.	.	.	.	.	.	.	.	.	.	-15.1625	8.688	0.34249	0.0:0.7373:0.0:0.2627	.	.	.	.	S	59	.	.	X	-	2	2	TYK2	10337364	0.317000	0.24589	0.186000	0.23195	0.358000	0.29455	0.937000	0.28951	0.596000	0.29794	-0.221000	0.12465	TGA		0.687	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389443.1				16	30	0	0	0	1	0	16	30		
TYK2	7297	broad.mit.edu	37	19	10478979	10478979	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:10478979G>A	ENST00000525621.1	-	4	790	c.309C>T	c.(307-309)ttC>ttT	p.F103F	TYK2_ENST00000529370.1_Silent_p.F103F|TYK2_ENST00000524462.1_Intron|TYK2_ENST00000264818.6_Silent_p.F103F	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	103	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cytokine-mediated signaling pathway (GO:0019221)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			ACCTTATGCGGAAATATAGCA	0.557																																						uc002moc.3		NaN																	0				lung(5)|large_intestine(2)|ovary(1)|breast(1)	9						c.(307-309)TTC>TTT		tyrosine kinase 2							159.0	142.0	148.0					19																	10478979		2203	4300	6503	SO:0001819	synonymous_variant	7297				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	g.chr19:10478979G>A		CCDS12236.1	19p13.2	2014-09-17			ENSG00000105397	ENSG00000105397	2.7.10.1		12440	protein-coding gene	gene with protein product		176941				2156206	Standard	NM_003331		Approved	JTK1	uc002moc.4	P29597	OTTHUMG00000166373	ENST00000525621.1:c.309C>T	19.37:g.10478979G>A						TYK2_uc010dxe.2_Intron|TYK2_uc002mod.2_Silent_p.F103F	p.F103F	NM_003331	NP_003322	P29597	TYK2_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)		4	687	-			103			FERM.		Q6QB10|Q96CH0	Silent	SNP	ENST00000525621.1	37	c.309C>T	CCDS12236.1																																																																																				0.557	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389443.1				76	92	0	0	0	1	0	76	92		
DNM2	1785	broad.mit.edu	37	19	10930726	10930726	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:10930726C>T	ENST00000355667.6	+	16	1822	c.1742C>T	c.(1741-1743)tCc>tTc	p.S581F	DNM2_ENST00000408974.4_Missense_Mutation_p.S577F|DNM2_ENST00000314646.5_Missense_Mutation_p.S581F|DNM2_ENST00000389253.4_Missense_Mutation_p.S581F|MIR199A1_ENST00000385019.1_RNA|DNM2_ENST00000585892.1_Missense_Mutation_p.S581F|DNM2_ENST00000359692.6_Missense_Mutation_p.S577F	NM_001005360.2|NM_001190716.1	NP_001005360.1|NP_001177645.1	P50570	DYN2_HUMAN	dynamin 2	581	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|endocytosis (GO:0006897)|G2/M transition of mitotic cell cycle (GO:0000086)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|nitric oxide metabolic process (GO:0046209)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic vesicle transport (GO:0048489)|transferrin transport (GO:0033572)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	enzyme binding (GO:0019899)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|microtubule binding (GO:0008017)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			GGCTTCATGTCCAACAAGCAC	0.562			"""F, N, Splice, Mis, O"""		ETP ALL																																	uc002mps.1		NaN		Rec	yes		19	19p13.2	1785		dynamin 2			L					0				central_nervous_system(2)|skin(2)|ovary(1)|breast(1)	6						c.(1741-1743)TCC>TTC		dynamin 2 isoform 2							163.0	144.0	150.0					19																	10930726		2203	4300	6503	SO:0001583	missense	1785				G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding	g.chr19:10930726C>T		CCDS32907.1, CCDS32908.1, CCDS45968.1, CCDS45969.1, CCDS59351.1	19p	2014-09-17						"""Pleckstrin homology (PH) domain containing"""	2974	protein-coding gene	gene with protein product	"""dynamin II"", ""cytoskeletal protein"""	602378				7590285, 9143510	Standard	NM_001190716		Approved	DYNII, DYN2, CMTDIB, CMTDI1, DI-CMTB	uc002mps.2	P50570		ENST00000355667.6:c.1742C>T	19.37:g.10930726C>T	ENSP00000347890:p.Ser581Phe					DNM2_uc010dxk.2_Intron|DNM2_uc002mpt.1_Missense_Mutation_p.S581F|DNM2_uc002mpv.1_Missense_Mutation_p.S577F|DNM2_uc002mpu.1_Missense_Mutation_p.S577F|DNM2_uc010dxl.1_Missense_Mutation_p.S581F|DNM2_uc002mpw.2_Missense_Mutation_p.S310F|uc010xlj.1_5'Flank|MIR199A1_hsa-mir-199a-1|MI0000242_5'Flank	p.S581F	NM_001005361	NP_001005361	P50570	DYN2_HUMAN	Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)		16	1906	+			581			PH.		A8K1B6|E7EV30|E9PEQ4|K7ESI9|Q5I0Y0|Q7Z5S3|Q9UPH4	Missense_Mutation	SNP	ENST00000355667.6	37	c.1742C>T	CCDS45968.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.803289	0.90623	.	.	ENSG00000079805	ENST00000408974;ENST00000355667;ENST00000359692;ENST00000389253;ENST00000314646;ENST00000545324	T;T;T	0.76578	-1.03;-1.03;-1.03	5.2	5.2	0.72013	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	1.374290	0.04345	N	0.354641	D	0.91321	0.7263	M	0.88906	2.99	0.80722	D	1	P;D;P;P;P;P	0.61080	0.921;0.989;0.555;0.941;0.838;0.675	P;D;P;D;D;P	0.67548	0.904;0.952;0.789;0.941;0.936;0.647	T	0.82051	-0.0649	10	0.48119	T	0.1	.	17.5221	0.87790	0.0:1.0:0.0:0.0	.	175;310;577;577;581;581	Q8N1K8;B4DJ53;A8K1B6;P50570-2;P50570;E9PEQ4	.;.;.;.;DYN2_HUMAN;.	F	577;577;581;581;581;188	ENSP00000386192:S577F;ENSP00000373905:S581F;ENSP00000313164:S581F	ENSP00000313164:S581F	S	+	2	0	DNM2	10791726	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.743000	0.85020	2.430000	0.82344	0.491000	0.48974	TCC		0.562	DNM2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452592.1		NM_004945		32	103	0	0	0	1	0	32	103		
SMARCA4	6597	broad.mit.edu	37	19	11138491	11138491	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:11138491G>A	ENST00000429416.3	+	25	3528	c.3247G>A	c.(3247-3249)Gag>Aag	p.E1083K	SMARCA4_ENST00000444061.3_Missense_Mutation_p.E1083K|SMARCA4_ENST00000413806.3_Missense_Mutation_p.E1083K|SMARCA4_ENST00000541122.2_Missense_Mutation_p.E1083K|SMARCA4_ENST00000590574.1_Missense_Mutation_p.E1083K|SMARCA4_ENST00000358026.2_Missense_Mutation_p.E1083K|SMARCA4_ENST00000450717.3_Missense_Mutation_p.E1083K|SMARCA4_ENST00000344626.4_Missense_Mutation_p.E1083K|SMARCA4_ENST00000589677.1_Missense_Mutation_p.E1083K	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1083					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(2)|p.E1083*(2)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GGGTAAATTTGAGCTTCTTGA	0.517			"""F, N, Mis"""		NSCLC																																	uc002mqf.3		NaN		Rec	yes		19	19p13.2	6597	F|N|Mis	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""			E			NSCLC		4	Substitution - Nonsense(2)|Unknown(2)	p.?(2)	lung(4)	lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67						c.(3247-3249)GAG>AAG		SWI/SNF-related matrix-associated							104.0	106.0	105.0					19																	11138491		2203	4300	6503	SO:0001583	missense	6597	Rhabdoid_Predisposition_syndrome			chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11138491G>A	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.3247G>A	19.37:g.11138491G>A	ENSP00000395654:p.Glu1083Lys					SMARCA4_uc010dxp.2_Missense_Mutation_p.E1083K|SMARCA4_uc010dxo.2_Missense_Mutation_p.E1083K|SMARCA4_uc002mqg.1_Missense_Mutation_p.E1083K|SMARCA4_uc010dxq.2_Missense_Mutation_p.E1083K|SMARCA4_uc010dxr.2_Missense_Mutation_p.E1083K|SMARCA4_uc002mqj.3_Missense_Mutation_p.E1083K|SMARCA4_uc010dxs.2_Missense_Mutation_p.E1083K|SMARCA4_uc010dxt.1_Missense_Mutation_p.E303K|SMARCA4_uc002mqh.3_Missense_Mutation_p.E206K|SMARCA4_uc002mqi.1_Missense_Mutation_p.E286K	p.E1083K	NM_003072	NP_003063	P51532	SMCA4_HUMAN			24	3531	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	1083					B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	c.3247G>A	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	G	35	5.542429	0.96474	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	T;T;T;T;T;T;T	0.75938	-0.98;-0.98;-0.98;-0.98;-0.98;-0.98;-0.98	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	D	0.84692	0.5528	M	0.61703	1.905	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.998;0.98;1.0;1.0	D;D;D;D;D;P;D;D	0.91635	0.999;0.994;0.994;0.999;0.995;0.781;0.999;0.999	D	0.86099	0.1555	10	0.87932	D	0	-45.5533	17.3259	0.87246	0.0:0.0:1.0:0.0	.	1083;1083;1083;1083;1083;303;1083;1083	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;B4E0F1;A7E2E1;P51532	.;.;.;.;.;.;.;SMCA4_HUMAN	K	1083;1083;1147;1083;1083;1083;1083;1083	ENSP00000395654:E1083K;ENSP00000350720:E1083K;ENSP00000343896:E1083K;ENSP00000445036:E1083K;ENSP00000392837:E1083K;ENSP00000397783:E1083K;ENSP00000414727:E1083K	ENSP00000343896:E1083K	E	+	1	0	SMARCA4	10999491	1.000000	0.71417	0.982000	0.44146	0.976000	0.68499	9.293000	0.96082	2.617000	0.88574	0.655000	0.94253	GAG		0.517	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2		NM_003072		64	66	0	0	0	1	0	64	66		
ZNF491	126069	broad.mit.edu	37	19	11917579	11917579	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:11917579C>G	ENST00000323169.5	+	3	1142	c.811C>G	c.(811-813)Cat>Gat	p.H271D	ZNF491_ENST00000492230.1_Intron	NM_152356.3	NP_689569.2	Q8N8L2	ZN491_HUMAN	zinc finger protein 491	271					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(14)|lung(6)|ovary(2)|skin(1)	26						AGAGAGGCCTCATAAATGTAA	0.408																																						uc002mso.1		NaN																	0				ovary(2)	2						c.(811-813)CAT>GAT		zinc finger protein 491							62.0	60.0	61.0					19																	11917579		2203	4300	6503	SO:0001583	missense	126069				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11917579C>G	AK092110	CCDS12267.1	19p13.2	2013-01-08			ENSG00000177599	ENSG00000177599		"""Zinc fingers, C2H2-type"""	23706	protein-coding gene	gene with protein product							Standard	XM_005259730		Approved	FLJ34791	uc002mso.1	Q8N8L2	OTTHUMG00000156529	ENST00000323169.5:c.811C>G	19.37:g.11917579C>G	ENSP00000313443:p.His271Asp						p.H271D	NM_152356	NP_689569	Q8N8L2	ZN491_HUMAN			3	1096	+			271			C2H2-type 8.		Q3MJ35|Q8NAT8	Missense_Mutation	SNP	ENST00000323169.5	37	c.811C>G	CCDS12267.1	.	.	.	.	.	.	.	.	.	.	c	14.43	2.532062	0.45073	.	.	ENSG00000177599	ENST00000323169;ENST00000455048	T	0.20598	2.06	0.874	-0.641	0.11490	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.22003	0.0530	M	0.75150	2.29	0.20703	N	0.999861	P	0.43431	0.807	B	0.40009	0.316	T	0.15009	-1.0452	9	0.87932	D	0	.	4.952	0.14019	0.0:0.2723:0.0:0.7277	.	271	Q8N8L2	ZN491_HUMAN	D	271;243	ENSP00000313443:H271D	ENSP00000313443:H271D	H	+	1	0	ZNF491	11778579	0.000000	0.05858	0.519000	0.27824	0.205000	0.24178	0.026000	0.13599	-0.198000	0.10333	0.505000	0.49811	CAT		0.408	ZNF491-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344518.1		NM_152356		39	54	0	0	0	1	0	39	54		
ZNF878	729747	broad.mit.edu	37	19	12155622	12155622	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:12155622G>A	ENST00000547628.1	-	4	731	c.594C>T	c.(592-594)ccC>ccT	p.P198P	CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|ZNF878_ENST00000602107.1_Silent_p.P245P|CTD-2006C1.2_ENST00000591838.1_RNA	NM_001080404.2	NP_001073873.2	C9JN71	ZN878_HUMAN	zinc finger protein 878	198					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						TACATTCATAGGGTTTTTTTG	0.388																																						uc002mta.1		NaN																	0					0						c.(733-735)CCC>CCT		zinc finger protein 878							135.0	151.0	146.0					19																	12155622		2159	4286	6445	SO:0001819	synonymous_variant	729747				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:12155622G>A		CCDS45984.1, CCDS45984.2	19p13.2	2013-01-08				ENSG00000257446		"""Zinc fingers, C2H2-type"", ""-"""	37246	protein-coding gene	gene with protein product							Standard	NM_001080404		Approved		uc021upl.1	C9JN71		ENST00000547628.1:c.594C>T	19.37:g.12155622G>A							p.P245P	NM_001080404	NP_001073873	C9JN71	ZN878_HUMAN			5	735	-			198						Silent	SNP	ENST00000547628.1	37	c.735C>T	CCDS45984.2																																																																																				0.388	ZNF878-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403723.1		NM_001080404		114	121	0	0	0	1	0	114	121		
ZNF878	729747	broad.mit.edu	37	19	12156003	12156003	+	Silent	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:12156003G>C	ENST00000547628.1	-	4	350	c.213C>G	c.(211-213)ctC>ctG	p.L71L	CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|ZNF878_ENST00000602107.1_Silent_p.L118L|CTD-2006C1.2_ENST00000591838.1_RNA	NM_001080404.2	NP_001073873.2	C9JN71	ZN878_HUMAN	zinc finger protein 878	71	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						TACTTTCAGAGAGTCTCTCCC	0.353																																						uc002mta.1		NaN																	0					0						c.(352-354)CTC>CTG		zinc finger protein 878							37.0	34.0	35.0					19																	12156003		1979	4179	6158	SO:0001819	synonymous_variant	729747				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:12156003G>C		CCDS45984.1, CCDS45984.2	19p13.2	2013-01-08				ENSG00000257446		"""Zinc fingers, C2H2-type"", ""-"""	37246	protein-coding gene	gene with protein product							Standard	NM_001080404		Approved		uc021upl.1	C9JN71		ENST00000547628.1:c.213C>G	19.37:g.12156003G>C							p.L118L	NM_001080404	NP_001073873	C9JN71	ZN878_HUMAN			5	354	-			71			KRAB.			Silent	SNP	ENST00000547628.1	37	c.354C>G	CCDS45984.2																																																																																				0.353	ZNF878-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403723.1		NM_001080404		10	16	0	0	0	1	0	10	16		
ZNF878	729747	broad.mit.edu	37	19	12157504	12157504	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:12157504C>A	ENST00000547628.1	-	2	212	c.75G>T	c.(73-75)caG>caT	p.Q25H	CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.10_ENST00000547473.1_Missense_Mutation_p.Q25H|ZNF878_ENST00000602107.1_Missense_Mutation_p.Q72H|CTD-2006C1.2_ENST00000591838.1_RNA	NM_001080404.2	NP_001073873.2	C9JN71	ZN878_HUMAN	zinc finger protein 878	25	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						AGAGATTTTTCTGGGAAGGAT	0.478																																						uc002mta.1		NaN																	0					0						c.(214-216)CAG>CAT		zinc finger protein 878							121.0	132.0	129.0					19																	12157504		2203	4300	6503	SO:0001583	missense	729747				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:12157504C>A		CCDS45984.1, CCDS45984.2	19p13.2	2013-01-08				ENSG00000257446		"""Zinc fingers, C2H2-type"", ""-"""	37246	protein-coding gene	gene with protein product							Standard	NM_001080404		Approved		uc021upl.1	C9JN71		ENST00000547628.1:c.75G>T	19.37:g.12157504C>A	ENSP00000447931:p.Gln25His						p.Q72H	NM_001080404	NP_001073873	C9JN71	ZN878_HUMAN			3	216	-			25			KRAB.			Missense_Mutation	SNP	ENST00000547628.1	37	c.216G>T	CCDS45984.2	.	.	.	.	.	.	.	.	.	.	C	15.77	2.932166	0.52866	.	.	ENSG00000257446;ENSG00000232371	ENST00000547628;ENST00000440730	T	0.09445	2.98	0.746	0.746	0.18365	Krueppel-associated box (4);	.	.	.	.	T	0.40347	0.1113	H	0.97491	4.015	0.25324	N	0.989093	D	0.89917	1.0	D	0.91635	0.999	T	0.20075	-1.0286	9	0.87932	D	0	.	2.9881	0.05974	0.0:0.6755:0.0:0.3245	.	25	C9JN71	ZN878_HUMAN	H	25;72	ENSP00000447931:Q25H	ENSP00000447931:Q25H	Q	-	3	2	AC022415.4;ZNF878	12018504	0.498000	0.26075	0.709000	0.30452	0.715000	0.41141	0.616000	0.24344	0.675000	0.31264	0.313000	0.20887	CAG		0.478	ZNF878-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403723.1		NM_001080404		67	88	1	0	2.02627e-32	1	2.28715e-32	67	88		
CC2D1A	54862	broad.mit.edu	37	19	14040949	14040949	+	Silent	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:14040949G>C	ENST00000318003.7	+	27	3010	c.2769G>C	c.(2767-2769)ctG>ctC	p.L923L	CC2D1A_ENST00000589606.1_Silent_p.L922L	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	923					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			CCCGGCGCCTGGGCAACGATG	0.692																																						uc002mxo.2		NaN																	0					0						c.(2767-2769)CTG>CTC		coiled-coil and C2 domain containing 1A							30.0	35.0	34.0					19																	14040949		1967	4132	6099	SO:0001819	synonymous_variant	54862				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity	g.chr19:14040949G>C	AF536205	CCDS42512.1	19p13.12	2007-01-08				ENSG00000132024			30237	protein-coding gene	gene with protein product	"""mental retardation, nonsyndromic, autosomal recessive, 3"""	610055				12761501, 16033914	Standard	NM_017721		Approved	FLJ20241, MRT3	uc002mxo.2	Q6P1N0		ENST00000318003.7:c.2769G>C	19.37:g.14040949G>C						CC2D1A_uc002mxp.2_Silent_p.L922L|CC2D1A_uc010dzh.2_Silent_p.L492L	p.L923L	NM_017721	NP_060191	Q6P1N0	C2D1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)		27	3068	+			923					Q7Z435|Q86XV0|Q8NF89|Q9H603|Q9NXI1	Silent	SNP	ENST00000318003.7	37	c.2769G>C	CCDS42512.1																																																																																				0.692	CC2D1A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457954.1		NM_017721		10	46	0	0	0	1	0	10	46		
CYP4F8	11283	broad.mit.edu	37	19	15728816	15728816	+	RNA	SNP	T	T	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:15728816T>G	ENST00000441682.2	+	0	268							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						icosanoid metabolic process (GO:0006690)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alkane 1-monooxygenase activity (GO:0018685)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						TGCAGGTCACTCCCACAGAGG	0.557																																						uc002nbi.2		NaN																	0				large_intestine(1)	1						c.(202-204)ACT>ACG		cytochrome P450, family 4, subfamily F,							70.0	78.0	75.0					19																	15728816		2193	4299	6492			11283				prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding	g.chr19:15728816T>G	AF133298	CCDS74303.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186526	ENSG00000186526		"""Cytochrome P450s"""	2648	protein-coding gene	gene with protein product		611545	"""cytochrome P450, subfamily IVF, polypeptide 8"""			10405341	Standard	NM_007253		Approved		uc002nbi.3	P98187	OTTHUMG00000182386		19.37:g.15728816T>G						CYP4F8_uc010xoi.1_Silent_p.T68T|CYP4F8_uc010xoj.1_Intron	p.T68T	NM_007253	NP_009184	P98187	CP4F8_HUMAN			3	268	+			68						Silent	SNP	ENST00000441682.2	37	c.204T>G																																																																																					0.557	CYP4F8-201	KNOWN	basic	processed_transcript	processed_transcript			NM_007253		11	47	0	0	0	1	0	11	47		
USE1	55850	broad.mit.edu	37	19	17327021	17327021	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:17327021C>G	ENST00000263897.5	+	4	322	c.275C>G	c.(274-276)cCt>cGt	p.P92R	USE1_ENST00000445667.2_Missense_Mutation_p.P92R|USE1_ENST00000379776.4_Missense_Mutation_p.P92R|USE1_ENST00000595101.1_Missense_Mutation_p.P92R|USE1_ENST00000596136.1_Missense_Mutation_p.P92R	NM_018467.3	NP_060937	Q9NZ43	USE1_HUMAN	unconventional SNARE in the ER 1 homolog (S. cerevisiae)	92					endoplasmic reticulum tubular network organization (GO:0071786)|lysosomal transport (GO:0007041)|protein catabolic process (GO:0030163)|protein transport (GO:0015031)|regulation of ER to Golgi vesicle-mediated transport (GO:0060628)|secretion by cell (GO:0032940)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|lung(3)	6						TTCCTGGCCCCTGGCCGTGTG	0.607																																						uc002nfo.2		NaN																	0					0						c.(274-276)CCT>CGT		unconventional SNARE in the ER 1 homolog							40.0	44.0	43.0					19																	17327021		1964	4144	6108	SO:0001583	missense	55850				lysosomal transport|protein catabolic process|protein transport|secretion by cell|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr19:17327021C>G	AF220052	CCDS46011.1	19p13.11	2007-08-20				ENSG00000053501			30882	protein-coding gene	gene with protein product	"""Q-SNARE"", ""SNARE-like tail-anchored protein 1 homolog (S. cerevisiae)"""	610675				16354670, 15029241	Standard	NM_018467		Approved	p31, SLT1, MDS032	uc002nfo.2	Q9NZ43		ENST00000263897.5:c.275C>G	19.37:g.17327021C>G	ENSP00000263897:p.Pro92Arg					USE1_uc002nfn.2_Missense_Mutation_p.P92R|USE1_uc010eal.1_Missense_Mutation_p.P92R	p.P92R	NM_018467	NP_060937	Q9NZ43	USE1_HUMAN			4	335	+			92			Cytoplasmic (Potential).		Q8NCK1|Q9BRT4	Missense_Mutation	SNP	ENST00000263897.5	37	c.275C>G	CCDS46011.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.561058	0.86335	.	.	ENSG00000053501	ENST00000263897;ENST00000445667;ENST00000379776	T;T;T	0.41065	1.01;1.01;1.01	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	T	0.58004	0.2092	L	0.55481	1.735	0.80722	D	1	P;D;P	0.71674	0.947;0.998;0.933	P;D;P	0.68353	0.721;0.957;0.698	T	0.52975	-0.8503	10	0.26408	T	0.33	-14.3012	17.0769	0.86589	0.0:1.0:0.0:0.0	.	92;92;92	Q9NZ43-2;Q9NZ43;Q9NZ43-3	.;USE1_HUMAN;.	R	92	ENSP00000263897:P92R;ENSP00000390287:P92R;ENSP00000369101:P92R	ENSP00000263897:P92R	P	+	2	0	USE1	17188021	1.000000	0.71417	0.994000	0.49952	0.973000	0.67179	7.430000	0.80321	2.275000	0.75901	0.561000	0.74099	CCT		0.607	USE1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463295.1		NM_018467		10	45	0	0	0	1	0	10	45		
GTPBP3	84705	broad.mit.edu	37	19	17452366	17452366	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:17452366C>G	ENST00000324894.8	+	9	1401	c.1333C>G	c.(1333-1335)Ctc>Gtc	p.L445V	GTPBP3_ENST00000600625.1_Missense_Mutation_p.L424V|GTPBP3_ENST00000358792.7_Missense_Mutation_p.L477V|GTPBP3_ENST00000598038.1_3'UTR|GTPBP3_ENST00000361619.5_Missense_Mutation_p.L467V	NM_032620.3|NM_133644.3	NP_116009.2|NP_598399.2	Q969Y2	GTPB3_HUMAN	GTP binding protein 3 (mitochondrial)	445					tRNA modification (GO:0006400)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	18						CCTGGATGCCCTCGGCCACTA	0.667																																						uc010eas.2		NaN																	0				skin(1)	1						c.(1333-1335)CTC>GTC		GTP binding protein 3 (mitochondrial) isoform V							41.0	46.0	44.0					19																	17452366		2203	4300	6503	SO:0001583	missense	84705				tRNA modification	mitochondrion	GTP binding|GTPase activity	g.chr19:17452366C>G	AF360742	CCDS32950.1, CCDS32951.1, CCDS56088.1, CCDS59364.1	19p13.2	2008-02-05				ENSG00000130299			14880	protein-coding gene	gene with protein product		608536				1290633	Standard	NM_001128855		Approved	MSS1, THDF1, GTPBG3, MTGP1, FLJ14700	uc010xpo.2	Q969Y2		ENST00000324894.8:c.1333C>G	19.37:g.17452366C>G	ENSP00000313818:p.Leu445Val					GTPBP3_uc010xpo.1_Missense_Mutation_p.L467V|GTPBP3_uc002ngh.3_Missense_Mutation_p.L424V|GTPBP3_uc002ngg.3_Missense_Mutation_p.L477V|GTPBP3_uc002ngi.3_Missense_Mutation_p.L111V	p.L445V	NM_032620	NP_116009	Q969Y2	GTPB3_HUMAN			9	1398	+			445					A6NFH1|A6NIG5|A6NKR4|A8K7B4|B7Z4V8|Q8TCY6|Q8WUW9|Q969G4|Q9BX61	Missense_Mutation	SNP	ENST00000324894.8	37	c.1333C>G	CCDS32951.1	.	.	.	.	.	.	.	.	.	.	C	14.51	2.557965	0.45590	.	.	ENSG00000130299	ENST00000361619;ENST00000324894;ENST00000358792	T;T;T	0.36520	1.25;1.25;1.25	5.5	4.44	0.53790	.	0.000000	0.85682	D	0.000000	T	0.54351	0.1853	M	0.64567	1.98	0.58432	D	0.999995	D;D;D;D	0.71674	0.995;0.995;0.994;0.998	D;D;P;D	0.67382	0.951;0.951;0.895;0.94	T	0.58064	-0.7702	10	0.87932	D	0	-17.5054	12.5265	0.56089	0.0:0.917:0.0:0.083	.	467;445;424;477	A6NIG5;Q969Y2;Q969Y2-3;Q969Y2-2	.;GTPB3_HUMAN;.;.	V	467;445;477	ENSP00000354598:L467V;ENSP00000313818:L445V;ENSP00000351644:L477V	ENSP00000313818:L445V	L	+	1	0	GTPBP3	17313366	0.975000	0.34042	0.878000	0.34440	0.042000	0.13812	2.431000	0.44775	1.284000	0.44531	0.561000	0.74099	CTC		0.667	GTPBP3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463624.1		NM_032620		20	55	0	0	0	1	0	20	55		
NXNL1	115861	broad.mit.edu	37	19	17571379	17571379	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:17571379G>T	ENST00000301944.2	-	1	384	c.300C>A	c.(298-300)ttC>ttA	p.F100L	CTD-2521M24.10_ENST00000594663.1_Missense_Mutation_p.F7L	NM_138454.1	NP_612463.1	Q96CM4	NXNL1_HUMAN	nucleoredoxin-like 1	100	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				photoreceptor cell maintenance (GO:0045494)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	6						CAAAGGGCAGGAAAAGCCATT	0.577																																						uc002ngs.2		NaN																	0					0						c.(298-300)TTC>TTA		nucleoredoxin-like 1							78.0	61.0	67.0					19																	17571379		2203	4300	6503	SO:0001583	missense	115861				cell redox homeostasis	nuclear outer membrane		g.chr19:17571379G>T	BC014127	CCDS12360.1	19p13.11	2014-05-21	2007-08-16	2007-08-16	ENSG00000171773	ENSG00000171773			25179	protein-coding gene	gene with protein product		608791	"""thioredoxin-like 6"""	TXNL6		12477932	Standard	NM_138454		Approved	RDCVF	uc002ngs.3	Q96CM4	OTTHUMG00000182798	ENST00000301944.2:c.300C>A	19.37:g.17571379G>T	ENSP00000305631:p.Phe100Leu						p.F100L	NM_138454	NP_612463	Q96CM4	NXNL1_HUMAN			1	347	-			100			Thioredoxin.		Q0QD37	Missense_Mutation	SNP	ENST00000301944.2	37	c.300C>A	CCDS12360.1	.	.	.	.	.	.	.	.	.	.	g	13.07	2.126633	0.37533	.	.	ENSG00000171773	ENST00000301944	D	0.89681	-2.55	3.92	2.88	0.33553	Thioredoxin-like fold (3);	0.057041	0.64402	D	0.000001	D	0.89863	0.6838	M	0.64997	1.995	0.44402	D	0.997318	D	0.61697	0.99	P	0.61722	0.893	D	0.85810	0.1379	10	0.23302	T	0.38	-22.2755	6.0514	0.19787	0.234:0.0:0.766:0.0	.	100	Q96CM4	NXNL1_HUMAN	L	100	ENSP00000305631:F100L	ENSP00000305631:F100L	F	-	3	2	NXNL1	17432379	1.000000	0.71417	1.000000	0.80357	0.585000	0.36419	1.238000	0.32707	0.860000	0.35481	-0.373000	0.07131	TTC		0.577	NXNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463803.1		NM_138454		26	28	1	0	6.38683e-12	1	6.92474e-12	26	28		
MPV17L2	84769	broad.mit.edu	37	19	18304802	18304802	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:18304802C>T	ENST00000599612.2	+	2	416	c.316C>T	c.(316-318)Cag>Tag	p.Q106*		NM_032683.2	NP_116072.2	Q567V2	M17L2_HUMAN	MPV17 mitochondrial membrane protein-like 2	106						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				large_intestine(1)|lung(2)|urinary_tract(1)	4						CCTCGTGGATCAGCTGGTAGC	0.592																																						uc002nid.2		NaN																	0					0						c.(316-318)CAG>TAG		MPV17 mitochondrial membrane protein-like 2							67.0	69.0	69.0					19																	18304802		2012	4184	6196	SO:0001587	stop_gained	84769					integral to membrane		g.chr19:18304802C>T	AK094091	CCDS42522.1	19p13.11	2011-05-26			ENSG00000254858	ENSG00000254858			28177	protein-coding gene	gene with protein product						12477932	Standard	NM_032683		Approved	FKSG24, MGC12972	uc002nid.3	Q567V2	OTTHUMG00000165628	ENST00000599612.2:c.316C>T	19.37:g.18304802C>T	ENSP00000469836:p.Gln106*					MPV17L2_uc010ebj.2_Nonsense_Mutation_p.Q42*	p.Q106*	NM_032683	NP_116072	Q567V2	M17L2_HUMAN			2	368	+			106			Helical; (Potential).		Q96P34|Q96QA0|Q9BSG4	Nonsense_Mutation	SNP	ENST00000599612.2	37	c.316C>T	CCDS42522.1	.	.	.	.	.	.	.	.	.	.	C	36	5.674188	0.96764	.	.	ENSG00000254858	ENST00000534474;ENST00000247712	.	.	.	4.45	4.45	0.53987	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-25.1945	16.0109	0.80402	0.0:1.0:0.0:0.0	.	.	.	.	X	106	.	ENSP00000247712:Q106X	Q	+	1	0	MPV17L2	18165802	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	7.253000	0.78320	2.167000	0.68274	0.313000	0.20887	CAG		0.592	MPV17L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466294.2		NM_032683		13	34	0	0	0	1	0	13	34		
SLC25A42	284439	broad.mit.edu	37	19	19218757	19218757	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:19218757G>A	ENST00000318596.7	+	7	703	c.552G>A	c.(550-552)aaG>aaA	p.K184K	SLC25A42_ENST00000600275.1_3'UTR	NM_178526.4	NP_848621.2	Q86VD7	S2542_HUMAN	solute carrier family 25, member 42	184					ADP transport (GO:0015866)|AMP transport (GO:0080121)|ATP transport (GO:0015867)|coenzyme A transmembrane transport (GO:0035349)|metabolic process (GO:0008152)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	adenosine-diphosphatase activity (GO:0043262)|ADP transmembrane transporter activity (GO:0015217)|AMP transmembrane transporter activity (GO:0080122)|ATP transmembrane transporter activity (GO:0005347)|coenzyme A transmembrane transporter activity (GO:0015228)			cervix(1)|large_intestine(2)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497)			AGGGGCTGAAGACTCTCTACC	0.562																																						uc002nlf.1		NaN																	0					0						c.(550-552)AAG>AAA		solute carrier family 25, member 42							114.0	100.0	105.0					19																	19218757		2203	4300	6503	SO:0001819	synonymous_variant	284439				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr19:19218757G>A		CCDS32966.1	19p13.11	2013-05-22			ENSG00000181035	ENSG00000181035		"""Solute carriers"""	28380	protein-coding gene	gene with protein product		610823				16949250, 19429682	Standard	NM_178526		Approved	MGC26694	uc002nlf.3	Q86VD7		ENST00000318596.7:c.552G>A	19.37:g.19218757G>A							p.K184K	NM_178526	NP_848621	Q86VD7	S2542_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497)		7	703	+			184			Solcar 2.		D2T2J5|O14553|O43378	Silent	SNP	ENST00000318596.7	37	c.552G>A	CCDS32966.1																																																																																				0.562	SLC25A42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465931.1		NM_178526		84	66	0	0	0	1	0	84	66		
ZNF99	7652	broad.mit.edu	37	19	22939880	22939880	+	IGR	SNP	A	A	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:22939880A>T	ENST00000596209.1	-	0	2686				CTC-451A6.4_ENST00000442497.2_lincRNA|ZNF99_ENST00000397104.3_Silent_p.L817L	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99						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)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TATGTTTCTTAAGGGTTGAGG	0.383																																						uc010xrh.1		NaN																	0				ovary(1)|skin(1)	2						c.(2449-2451)CTT>CTA		zinc finger protein 99							92.0	103.0	99.0					19																	22939880		2083	4241	6324	SO:0001628	intergenic_variant	7652							g.chr19:22939880A>T	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4			19.37:g.22939880A>T							p.L817L	NM_001080409	NP_001073878					6	2451	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Silent	SNP	ENST00000596209.1	37	c.2451T>A	CCDS59369.1																																																																																				0.383	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1		XM_065124		16	102	0	0	0	1	0	16	102		
C19orf40	91442	broad.mit.edu	37	19	33467501	33467501	+	Silent	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:33467501G>C	ENST00000588258.1	+	5	671	c.561G>C	c.(559-561)ctG>ctC	p.L187L	C19orf40_ENST00000590179.1_Silent_p.L92L|C19orf40_ENST00000590281.1_Silent_p.L187L|C19orf40_ENST00000589646.1_Silent_p.L92L	NM_152266.3	NP_689479.1	Q9BTP7	FAP24_HUMAN	chromosome 19 open reading frame 40	187	RuvA domain 2-like.				DNA repair (GO:0006281)	Fanconi anaemia nuclear complex (GO:0043240)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7	Esophageal squamous(110;0.137)					TCCAGCAACTGAGTAATGCTT	0.557								Direct reversal of damage			OREG0025408	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002nud.3		NaN																	0					0						c.(559-561)CTG>CTC	Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi anemia-associated protein, 24 kDa							134.0	120.0	125.0					19																	33467501		2203	4300	6503	SO:0001819	synonymous_variant	91442				DNA repair	Fanconi anaemia nuclear complex	chromatin binding|DNA binding|protein binding	g.chr19:33467501G>C	AK128668	CCDS12426.1, CCDS74327.1	19q13.11	2011-11-24			ENSG00000131944	ENSG00000131944			28467	protein-coding gene	gene with protein product	"""Fanconi anemia-associated protein, 24kDa"""	610884				17289582	Standard	XM_005259393		Approved	FLJ46828, MGC32020, FAAP24	uc002nud.4	Q9BTP7		ENST00000588258.1:c.561G>C	19.37:g.33467501G>C			OREG0025408	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	840		p.L187L	NM_152266	NP_689479	Q9BTP7	FAP24_HUMAN			5	679	+	Esophageal squamous(110;0.137)		187			RuvA domain 2-like.		B3KY46|Q8WUJ7|Q96FX6	Silent	SNP	ENST00000588258.1	37	c.561G>C	CCDS12426.1																																																																																				0.557	C19orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450823.2		NM_152266		30	132	0	0	0	1	0	30	132		
SCN1B	6324	broad.mit.edu	37	19	35530030	35530030	+	Missense_Mutation	SNP	A	A	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:35530030A>T	ENST00000262631.5	+	4	595	c.458A>T	c.(457-459)gAc>gTc	p.D153V	CTD-2527I21.9_ENST00000601692.1_RNA|SCN1B_ENST00000595652.1_Missense_Mutation_p.D82V|HPN_ENST00000597419.1_5'Flank|HPN_ENST00000392226.1_5'Flank|SCN1B_ENST00000596348.1_3'UTR|HPN_ENST00000262626.2_5'Flank	NM_001037.4	NP_001028.1	Q07699	SCN1B_HUMAN	sodium channel, voltage-gated, type I, beta subunit	153			D -> N (in ATFB13; the mutant results in reduced sodium currents when coexpressed with SCN5A in a heterologous expression system). {ECO:0000269|PubMed:19808477}.		axon guidance (GO:0007411)|cardiac conduction (GO:0061337)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|corticospinal neuron axon guidance (GO:0021966)|locomotion (GO:0040011)|membrane depolarization (GO:0051899)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during Purkinje myocyte cell action potential (GO:0086047)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to pyrethroid (GO:0046684)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|intercalated disc (GO:0014704)|node of Ranvier (GO:0033268)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	sodium channel inhibitor activity (GO:0019871)|sodium channel regulator activity (GO:0017080)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)|voltage-gated sodium channel activity involved in Purkinje myocyte action potential (GO:0086062)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)	11	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Valproic Acid(DB00313)|Zonisamide(DB00909)	GCCAACAGAGACATGGCATCC	0.532																																						uc002nxp.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(457-459)GAC>GTC		sodium channel, voltage-gated, type I, beta							169.0	146.0	154.0					19																	35530030		2203	4300	6503	SO:0001583	missense	6324				axon guidance|synaptic transmission	integral to membrane	voltage-gated sodium channel activity	g.chr19:35530030A>T		CCDS12441.1, CCDS46047.1	19q13.12	2014-09-17	2012-02-28		ENSG00000105711	ENSG00000105711		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10586	protein-coding gene	gene with protein product		600235	"""sodium channel, voltage-gated, type I, beta polypeptide"", ""sodium channel, voltage-gated, type I, beta"""			8394762	Standard	NM_001037		Approved		uc002nxo.2	Q07699	OTTHUMG00000182472	ENST00000262631.5:c.458A>T	19.37:g.35530030A>T	ENSP00000262631:p.Asp153Val					SCN1B_uc010xsg.1_Missense_Mutation_p.D82V|HPN_uc002nxq.1_5'Flank|HPN_uc002nxr.1_5'Flank|HPN_uc002nxs.1_5'Flank	p.D153V	NM_001037	NP_001028	Q07699	SCN1B_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		4	649	+	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		153			Extracellular (Potential).		Q5TZZ4|Q6TN97	Missense_Mutation	SNP	ENST00000262631.5	37	c.458A>T	CCDS12441.1	.	.	.	.	.	.	.	.	.	.	A	13.32	2.201002	0.38905	.	.	ENSG00000105711	ENST00000262631	D	0.97870	-4.58	4.09	4.09	0.47781	.	0.252428	0.33199	N	0.005167	D	0.96824	0.8963	L	0.42245	1.32	0.80722	D	1	D;P	0.59357	0.985;0.92	P;B	0.58130	0.833;0.264	D	0.95451	0.8534	10	0.37606	T	0.19	.	9.409	0.38480	1.0:0.0:0.0:0.0	.	82;153	B4DI92;Q07699	.;SCN1B_HUMAN	V	153	ENSP00000262631:D153V	ENSP00000262631:D153V	D	+	2	0	SCN1B	40221870	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	5.115000	0.64655	1.724000	0.51502	0.379000	0.24179	GAC		0.532	SCN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461567.1				97	85	0	0	0	1	0	97	85		
DMKN	93099	broad.mit.edu	37	19	36002341	36002341	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:36002341C>A	ENST00000339686.3	-	5	1066	c.890G>T	c.(889-891)aGa>aTa	p.R297I	DMKN_ENST00000472252.2_5'Flank|DMKN_ENST00000492341.2_5'Flank|DMKN_ENST00000402589.2_5'Flank|DMKN_ENST00000443640.1_5'Flank|DMKN_ENST00000424570.2_Missense_Mutation_p.R297I|DMKN_ENST00000461300.1_5'Flank|DMKN_ENST00000467637.1_5'Flank|DMKN_ENST00000458071.1_5'Flank|DMKN_ENST00000447113.2_Missense_Mutation_p.R297I|DMKN_ENST00000462126.1_5'Flank|DMKN_ENST00000392206.2_5'Flank|DMKN_ENST00000474928.1_5'Flank|DMKN_ENST00000414866.2_5'Flank|DMKN_ENST00000602781.1_5'Flank|DMKN_ENST00000488892.1_5'Flank|DMKN_ENST00000419602.1_Intron|DMKN_ENST00000436012.1_5'Flank|DMKN_ENST00000451297.2_Missense_Mutation_p.R297I|DMKN_ENST00000480502.1_5'Flank|DMKN_ENST00000440396.1_Missense_Mutation_p.R297I|DMKN_ENST00000429837.1_Intron|DMKN_ENST00000418261.1_Missense_Mutation_p.R297I	NM_033317.4	NP_201574	Q6E0U4	DMKN_HUMAN	dermokine	297	Gly-rich.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GCTGTCACCTctgctgccacc	0.647																																						uc002nzm.3		NaN																	0				large_intestine(1)|ovary(1)|skin(1)	3						c.(889-891)AGA>ATA		dermokine isoform 2 precursor							38.0	32.0	34.0					19																	36002341		2202	4298	6500	SO:0001583	missense	93099					extracellular region		g.chr19:36002341C>A	BC035311	CCDS12463.1, CCDS42549.1, CCDS46051.1, CCDS46052.1, CCDS46053.1, CCDS46054.1, CCDS46054.2, CCDS54250.1, CCDS54251.1, CCDS54252.1	19q13.12	2008-10-27			ENSG00000161249	ENSG00000161249			25063	protein-coding gene	gene with protein product						16374476	Standard	NM_001035516		Approved	ZD52F10	uc002nzm.4	Q6E0U4	OTTHUMG00000048101	ENST00000339686.3:c.890G>T	19.37:g.36002341C>A	ENSP00000342012:p.Arg297Ile					DMKN_uc002nzj.2_5'Flank|DMKN_uc002nzk.3_5'Flank|DMKN_uc002nzl.3_5'Flank|DMKN_uc002nzo.3_Intron|DMKN_uc002nzn.3_Intron|DMKN_uc002nzw.2_5'Flank|DMKN_uc002nzr.2_5'Flank|DMKN_uc002nzp.2_5'Flank|DMKN_uc002nzq.2_5'Flank|DMKN_uc002nzt.2_5'Flank|DMKN_uc002nzs.2_5'Flank|DMKN_uc002nzu.2_5'Flank|DMKN_uc002nzv.2_5'Flank|DMKN_uc010xsv.1_5'Flank|DMKN_uc010xsw.1_5'Flank|DMKN_uc002nzx.3_5'Flank|DMKN_uc002nzy.3_5'Flank|DMKN_uc002nzz.2_RNA|DMKN_uc002oac.3_Missense_Mutation_p.R297I|DMKN_uc010eeb.2_Missense_Mutation_p.R297I|DMKN_uc002oaa.3_Missense_Mutation_p.R297I|DMKN_uc002oab.3_Missense_Mutation_p.R297I	p.R297I	NM_033317	NP_201574	Q6E0U4	DMKN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		5	1073	-	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		297			Gly-rich.		A3EZ79|A3EZ80|A3EZ81|A3EZ82|A3EZ83|C9J4P6|C9J5N8|C9JAL3|Q32W58|Q32W62|Q32W63|Q32W64|Q32W65|Q32W66|Q32W67|Q6E0U5|Q6UXC7|Q96EW8|Q9BSY6	Missense_Mutation	SNP	ENST00000339686.3	37	c.890G>T	CCDS12463.1	.	.	.	.	.	.	.	.	.	.	C	7.246	0.602207	0.13939	.	.	ENSG00000161249	ENST00000339686;ENST00000392207;ENST00000447113;ENST00000440396;ENST00000418261;ENST00000424570;ENST00000451297	T;T;T;T;T;T	0.19394	2.69;2.15;2.27;2.2;2.15;2.16	1.33	-2.22	0.06952	.	9.051830	0.00424	N	0.000065	T	0.13157	0.0319	N	0.19112	0.55	0.09310	N	1	B;B;B;B;B	0.27192	0.171;0.104;0.171;0.171;0.171	B;B;B;B;B	0.20577	0.03;0.03;0.03;0.03;0.03	T	0.22906	-1.0203	10	0.59425	D	0.04	2.4072	4.424	0.11495	0.0:0.4866:0.0:0.5134	.	297;297;297;297;297	E7EUS0;Q6E0U4-7;Q6E0U4-3;Q6E0U4-5;Q6E0U4	.;.;.;.;DMKN_HUMAN	I	297	ENSP00000342012:R297I;ENSP00000394908:R297I;ENSP00000415277:R297I;ENSP00000414743:R297I;ENSP00000388404:R297I;ENSP00000409513:R297I	ENSP00000342012:R297I	R	-	2	0	DMKN	40694181	0.189000	0.23263	0.000000	0.03702	0.003000	0.03518	1.639000	0.37176	-0.492000	0.06687	-0.459000	0.05422	AGA		0.647	DMKN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109461.2		NM_033317		3	23	1	0	0.004672	1	0.00472309	3	23		
KIRREL2	84063	broad.mit.edu	37	19	36357214	36357214	+	Silent	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:36357214C>A	ENST00000360202.5	+	15	2145	c.1947C>A	c.(1945-1947)gtC>gtA	p.V649V	KIRREL2_ENST00000592409.1_Silent_p.V614V|APLP1_ENST00000537454.2_5'Flank|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000262625.7_Intron|KIRREL2_ENST00000347900.6_Intron|APLP1_ENST00000221891.4_5'Flank	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	649	Pro-rich.				cell adhesion (GO:0007155)|negative regulation of protein phosphorylation (GO:0001933)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TGGGCATGGTCCCCCCCTGCA	0.627																																						uc002ocb.3		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1945-1947)GTC>GTA		kin of IRRE-like 2 isoform c							86.0	88.0	88.0					19																	36357214		2203	4300	6503	SO:0001819	synonymous_variant	84063				cell adhesion	integral to membrane|plasma membrane		g.chr19:36357214C>A	AL136654	CCDS12479.1, CCDS12480.1, CCDS12481.1	19q13.13	2013-01-29				ENSG00000126259		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18816	protein-coding gene	gene with protein product		607762				12837264, 12504092	Standard	NM_199180		Approved	NLG1, NEPH3, FILTRIN, DKFZp564A1164, MGC15718	uc002ocb.4	Q6UWL6		ENST00000360202.5:c.1947C>A	19.37:g.36357214C>A						KIRREL2_uc002obz.3_Intron|KIRREL2_uc002oca.3_Intron|KIRREL2_uc002occ.3_Silent_p.V596V|KIRREL2_uc002ocd.3_Silent_p.V611V|APLP1_uc010xsz.1_5'Flank|APLP1_uc002oce.2_5'Flank|APLP1_uc002ocf.2_5'Flank|APLP1_uc002ocg.2_5'Flank	p.V649V	NM_199180	NP_954649	Q6UWL6	KIRR2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		15	2159	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		649			Pro-rich.|Cytoplasmic (Potential).		C9JHF1|C9JJ76|F1T0I2|Q6P1R1|Q7Z5P1|Q7Z5P2|Q96IQ8|Q9H0T1	Silent	SNP	ENST00000360202.5	37	c.1947C>A	CCDS12481.1																																																																																				0.627	KIRREL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452561.1		NM_032123		17	106	1	0	1.37285e-15	1	1.51267e-15	17	106		
WDR62	284403	broad.mit.edu	37	19	36593683	36593683	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:36593683G>A	ENST00000270301.7	+	27	3250	c.3250G>A	c.(3250-3252)Gaa>Aaa	p.E1084K	WDR62_ENST00000401500.2_Missense_Mutation_p.E1089K			O43379	WDR62_HUMAN	WD repeat domain 62	1084					cerebral cortex development (GO:0021987)|neurogenesis (GO:0022008)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle pole (GO:0000922)				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CTCTGAAGCTGAAGACCACTT	0.617																																						uc002odc.2		NaN																	0					0						c.(3250-3252)GAA>AAA		WD repeat domain 62 isoform 2							103.0	86.0	91.0					19																	36593683		2203	4300	6503	SO:0001583	missense	284403				cerebral cortex development	nucleus		g.chr19:36593683G>A	BX647726	CCDS33001.1, CCDS46059.1	19q13.12	2013-01-09	2005-05-09	2005-05-09	ENSG00000075702	ENSG00000075702		"""WD repeat domain containing"""	24502	protein-coding gene	gene with protein product		613583	"""chromosome 19 open reading frame 14"", ""microcephaly, primary autosomal recessive 2"""	C19orf14, MCPH2		19910486, 20729831, 20890278, 21496009	Standard	NM_001083961		Approved	DKFZP434J046, FLJ33298	uc002odd.2	O43379	OTTHUMG00000048139	ENST00000270301.7:c.3250G>A	19.37:g.36593683G>A	ENSP00000270301:p.Glu1084Lys					WDR62_uc002odd.2_Missense_Mutation_p.E1089K	p.E1084K	NM_173636	NP_775907	O43379	WDR62_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		27	3341	+	Esophageal squamous(110;0.162)		1084					Q63HP9|Q659D7|Q8NBF7|Q96AD9	Missense_Mutation	SNP	ENST00000270301.7	37	c.3250G>A	CCDS33001.1	.	.	.	.	.	.	.	.	.	.	G	12.58	1.981432	0.34942	.	.	ENSG00000075702	ENST00000401500;ENST00000270301	T;T	0.53857	0.68;0.6	5.3	3.18	0.36537	.	1.046710	0.07504	N	0.907745	T	0.38931	0.1059	L	0.32530	0.975	0.41581	D	0.988749	B;B	0.15930	0.015;0.008	B;B	0.15052	0.012;0.005	T	0.11743	-1.0575	10	0.08837	T	0.75	-9.5395	8.0666	0.30665	0.1866:0.0:0.8134:0.0	.	1089;1084	O43379-4;O43379	.;WDR62_HUMAN	K	1089;1084	ENSP00000384792:E1089K;ENSP00000270301:E1084K	ENSP00000270301:E1084K	E	+	1	0	WDR62	41285523	0.396000	0.25262	0.179000	0.23059	0.002000	0.02628	1.925000	0.40074	0.636000	0.30508	-0.136000	0.14681	GAA		0.617	WDR62-006	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457436.1		NM_015671		15	54	0	0	0	1	0	15	54		
COX7A1	1346	broad.mit.edu	37	19	36642380	36642380	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:36642380C>T	ENST00000292907.3	-	3	632	c.171G>A	c.(169-171)atG>atA	p.M57I	COX7A1_ENST00000437291.2_Start_Codon_SNP_p.M1I	NM_001864.2	NP_001855.1	P24310	CX7A1_HUMAN	cytochrome c oxidase subunit VIIa polypeptide 1 (muscle)	57					generation of precursor metabolites and energy (GO:0006091)|hydrogen ion transmembrane transport (GO:1902600)	integral component of membrane (GO:0016021)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	cytochrome-c oxidase activity (GO:0004129)			endometrium(2)|large_intestine(1)	3	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GACACAGCGTCATTGTCACTC	0.617																																						uc002odm.1		NaN																	0					0						c.(169-171)ATG>ATA		cytochrome c oxidase subunit VIIa polypeptide 1							180.0	138.0	152.0					19																	36642380		2203	4300	6503	SO:0001583	missense	1346				generation of precursor metabolites and energy	integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity|electron carrier activity	g.chr19:36642380C>T	BC002757	CCDS12490.1	19q13.1	2011-07-04			ENSG00000161281	ENSG00000161281	1.9.3.1	"""Mitochondrial respiratory chain complex / Complex IV"""	2287	protein-coding gene	gene with protein product		123995		COX7A		1327965, 2550906	Standard	NM_001864		Approved	COX7AH	uc002odm.1	P24310	OTTHUMG00000048144	ENST00000292907.3:c.171G>A	19.37:g.36642380C>T	ENSP00000292907:p.Met57Ile						p.M57I	NM_001864	NP_001855	P24310	CX7A1_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		3	633	-	Esophageal squamous(110;0.162)		57			Helical; (By similarity).			Missense_Mutation	SNP	ENST00000292907.3	37	c.171G>A	CCDS12490.1	.	.	.	.	.	.	.	.	.	.	c	20.4	3.992027	0.74703	.	.	ENSG00000161281	ENST00000292907	T	0.42513	0.97	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.64994	0.2649	.	.	.	0.43372	D	0.99546	D	0.62365	0.991	D	0.76575	0.988	T	0.68663	-0.5349	9	0.66056	D	0.02	-4.6449	14.2711	0.66152	0.0:1.0:0.0:0.0	.	57	P24310	CX7A1_HUMAN	I	57	ENSP00000292907:M57I	ENSP00000292907:M57I	M	-	3	0	COX7A1	41334220	0.991000	0.36638	0.344000	0.25628	0.003000	0.03518	3.818000	0.55678	2.424000	0.82194	0.639000	0.83563	ATG		0.617	COX7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109545.2		NM_001864		9	77	0	0	0	1	0	9	77		
MAP4K1	11184	broad.mit.edu	37	19	39103253	39103253	+	Silent	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:39103253G>C	ENST00000591517.1	-	9	691	c.663C>G	c.(661-663)ctC>ctG	p.L221L	MAP4K1_ENST00000589130.1_Silent_p.L217L|MAP4K1_ENST00000586296.1_Silent_p.L221L|MAP4K1_ENST00000396857.2_Silent_p.L221L|MAP4K1_ENST00000589002.1_5'UTR|MAP4K1_ENST00000423454.2_5'UTR	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	221	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|cell proliferation (GO:0008283)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)	membrane (GO:0016020)	ATP binding (GO:0005524)|MAP kinase kinase kinase kinase activity (GO:0008349)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CTGCCTACCTGAGAGGGTGCA	0.607																																						uc002oix.1		NaN																	0				skin(4)|lung(3)|ovary(1)	8						c.(661-663)CTC>CTG		mitogen-activated protein kinase kinase kinase							37.0	42.0	40.0					19																	39103253		2092	4234	6326	SO:0001819	synonymous_variant	11184				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity	g.chr19:39103253G>C	U66464	CCDS42564.1, CCDS59385.1	19q13.1-q13.4	2011-06-09				ENSG00000104814	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6863	protein-coding gene	gene with protein product	"""hematopoietic progenitor kinase 1"""	601983				8824585	Standard	NM_001042600		Approved	HPK1	uc002oix.1	Q92918		ENST00000591517.1:c.663C>G	19.37:g.39103253G>C						MAP4K1_uc002oiy.1_Silent_p.L221L|MAP4K1_uc010xug.1_5'UTR	p.L221L	NM_007181	NP_009112	Q92918	M4K1_HUMAN	Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)		9	771	-	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		221			Protein kinase.			Silent	SNP	ENST00000591517.1	37	c.663C>G	CCDS59385.1																																																																																				0.607	MAP4K1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000453390.1		NM_001042600		30	26	0	0	0	1	0	30	26		
ACTN4	81	broad.mit.edu	37	19	39208629	39208629	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:39208629G>A	ENST00000252699.2	+	11	1282	c.1206G>A	c.(1204-1206)ctG>ctA	p.L402L	ACTN4_ENST00000424234.2_Intron|ACTN4_ENST00000390009.3_Silent_p.L183L	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	actinin, alpha 4	402					actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cellular component movement (GO:0051272)|positive regulation of pinocytosis (GO:0048549)|positive regulation of sodium:proton antiporter activity (GO:0032417)|protein localization to tight junction (GO:1902396)|protein transport (GO:0015031)|regulation of apoptotic process (GO:0042981)|response to hypoxia (GO:0001666)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule lumen (GO:0031093)|protein complex (GO:0043234)|pseudopodium (GO:0031143)|ribonucleoprotein complex (GO:0030529)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|nucleoside binding (GO:0001882)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			AGTGGCTGCTGAATGAGATCC	0.627																																					Colon(168;199 1940 10254 46213 46384)	uc002oja.1		NaN																	0					0						c.(1204-1206)CTG>CTA		actinin, alpha 4							47.0	32.0	37.0					19																	39208629		2203	4299	6502	SO:0001819	synonymous_variant	81				platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis	extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex	actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity	g.chr19:39208629G>A	D89980	CCDS12518.1	19q13	2013-01-10			ENSG00000130402	ENSG00000130402		"""EF-hand domain containing"""	166	protein-coding gene	gene with protein product		604638	"""focal segmental glomerulosclerosis 1"""	FSGS1		9461087, 10700177	Standard	NM_004924		Approved		uc002oja.2	O43707	OTTHUMG00000137382	ENST00000252699.2:c.1206G>A	19.37:g.39208629G>A						ACTN4_uc010egc.1_Silent_p.L402L	p.L402L	NM_004924	NP_004915	O43707	ACTN4_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		11	1265	+	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		402			Spectrin 1.		A4K467|D6PXK4|O76048	Silent	SNP	ENST00000252699.2	37	c.1206G>A	CCDS12518.1																																																																																				0.627	ACTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268091.1				5	10	0	0	0	1	0	5	10		
NFKBIB	4793	broad.mit.edu	37	19	39396010	39396010	+	Missense_Mutation	SNP	C	C	T	rs371423502		TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:39396010C>T	ENST00000313582.5	+	3	488	c.454C>T	c.(454-456)Cgg>Tgg	p.R152W	NFKBIB_ENST00000572515.1_Missense_Mutation_p.R152W|NFKBIB_ENST00000392079.3_Missense_Mutation_p.R120W	NM_002503.4	NP_002494.2	Q15653	IKBB_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, beta	152					innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of type I interferon production (GO:0032481)|signal transduction (GO:0007165)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	8	all_cancers(60;4.39e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			GCCCCGCCCCCGGCGCCCCAG	0.711																																					Pancreas(165;1492 2005 6979 7739 34483)	uc002ojw.2		NaN																	0				lung(1)|kidney(1)	2						c.(454-456)CGG>TGG		nuclear factor of kappa light polypeptide gene		C	TRP/ARG,TRP/ARG	0,4372		0,0,2186	19.0	23.0	21.0		358,454	-0.8	0.2	19		21	2,8506		0,2,4252	no	missense,missense	NFKBIB	NM_001001716.1,NM_002503.4	101,101	0,2,6438	TT,TC,CC		0.0235,0.0,0.0155	probably-damaging,probably-damaging	120/307,152/357	39396010	2,12878	2186	4254	6440	SO:0001583	missense	4793				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent	cytosol|nucleus	protein binding|signal transducer activity|transcription coactivator activity	g.chr19:39396010C>T	L40407	CCDS12524.1, CCDS74362.1	19q13.1	2013-01-10				ENSG00000104825		"""Ankyrin repeat domain containing"""	7798	protein-coding gene	gene with protein product		604495				9763672	Standard	NM_002503		Approved	IKBB, TRIP9	uc002ojw.3	Q15653		ENST00000313582.5:c.454C>T	19.37:g.39396010C>T	ENSP00000312988:p.Arg152Trp					NFKBIB_uc002ojx.2_Missense_Mutation_p.R120W|NFKBIB_uc002ojy.2_Missense_Mutation_p.R152W	p.R152W	NM_002503	NP_002494	Q15653	IKBB_HUMAN	Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)		3	512	+	all_cancers(60;4.39e-06)|Ovarian(47;0.0454)		152			ANK 3.		A8K3F4|Q96BJ7	Missense_Mutation	SNP	ENST00000313582.5	37	c.454C>T	CCDS12524.1	.	.	.	.	.	.	.	.	.	.	C	13.99	2.401568	0.42613	0.0	2.35E-4	ENSG00000104825	ENST00000509705;ENST00000313582;ENST00000392079	T;T	0.55413	0.52;0.73	4.36	-0.762	0.11034	Ankyrin repeat-containing domain (2);	0.962237	0.08516	N	0.934195	T	0.41719	0.1171	N	0.22421	0.69	0.19300	N	0.999979	D;D;D	0.64830	0.988;0.994;0.974	P;P;P	0.51266	0.664;0.534;0.664	T	0.33137	-0.9880	10	0.87932	D	0	-1.55	2.1877	0.03891	0.3606:0.374:0.164:0.1013	.	175;120;152	Q59EM7;G5E9C2;Q15653	.;.;IKBB_HUMAN	W	175;152;120	ENSP00000312988:R152W;ENSP00000375929:R120W	ENSP00000312988:R152W	R	+	1	2	NFKBIB	44087850	0.005000	0.15991	0.200000	0.23457	0.569000	0.35902	0.272000	0.18644	0.168000	0.19655	-0.119000	0.15052	CGG		0.711	NFKBIB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438155.1		NM_002503		44	21	0	0	0	1	0	44	21		
FCGBP	8857	broad.mit.edu	37	19	40368511	40368511	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:40368511G>A	ENST00000221347.6	-	28	12844	c.12837C>T	c.(12835-12837)ttC>ttT	p.F4279F		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4279	VWFD 10. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GGGGTCCGCAGAAGCCAGGGC	0.642																																						uc002omp.3		NaN																	0				ovary(4)|skin(4)|central_nervous_system(1)	9						c.(12835-12837)TTC>TTT		Fc fragment of IgG binding protein precursor							58.0	60.0	59.0					19																	40368511		2203	4291	6494	SO:0001819	synonymous_variant	8857					extracellular region	protein binding	g.chr19:40368511G>A	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.12837C>T	19.37:g.40368511G>A							p.F4279F	NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		28	12845	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		4279			VWFD 10.		O95784	Silent	SNP	ENST00000221347.6	37	c.12837C>T	CCDS12546.1																																																																																				0.642	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1		NM_003890		9	29	0	0	0	1	0	9	29		
FCGBP	8857	broad.mit.edu	37	19	40433168	40433168	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:40433168G>A	ENST00000221347.6	-	2	1108	c.1101C>T	c.(1099-1101)atC>atT	p.I367I		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	367	IgGFc-binding.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TCAGCCCGCTGATAGCCTTCG	0.612																																						uc002omp.3		NaN																	0				ovary(4)|skin(4)|central_nervous_system(1)	9						c.(1099-1101)ATC>ATT		Fc fragment of IgG binding protein precursor							111.0	82.0	92.0					19																	40433168		2203	4300	6503	SO:0001819	synonymous_variant	8857					extracellular region	protein binding	g.chr19:40433168G>A	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.1101C>T	19.37:g.40433168G>A							p.I367I	NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		2	1109	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		367			IgGFc-binding.		O95784	Silent	SNP	ENST00000221347.6	37	c.1101C>T	CCDS12546.1																																																																																				0.612	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1		NM_003890		20	42	0	0	0	1	0	20	42		
SPTBN4	57731	broad.mit.edu	37	19	41066206	41066206	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:41066206G>A	ENST00000352632.3	+	27	5898	c.5812G>A	c.(5812-5814)Gtc>Atc	p.V1938I	SPTBN4_ENST00000338932.3_Missense_Mutation_p.V1938I|SPTBN4_ENST00000595535.1_Missense_Mutation_p.V1938I|SPTBN4_ENST00000392025.1_Missense_Mutation_p.V681I|SPTBN4_ENST00000392023.1_Missense_Mutation_p.V614I|SPTBN4_ENST00000598249.1_Missense_Mutation_p.V1938I			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1938					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCGCCTGCATGTCAGCTCCAC	0.647																																						uc002ony.2		NaN																	0				ovary(3)|central_nervous_system(1)|skin(1)	5						c.(5812-5814)GTC>ATC		spectrin, beta, non-erythrocytic 4 isoform							93.0	80.0	85.0					19																	41066206		2203	4300	6503	SO:0001583	missense	57731				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	g.chr19:41066206G>A	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"""Pleckstrin homology (PH) domain containing"""	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.5812G>A	19.37:g.41066206G>A	ENSP00000263373:p.Val1938Ile					SPTBN4_uc002onx.2_Missense_Mutation_p.V1938I|SPTBN4_uc002onz.2_Missense_Mutation_p.V1938I|SPTBN4_uc010egx.2_Missense_Mutation_p.V681I|SPTBN4_uc002ooa.2_Missense_Mutation_p.V614I	p.V1938I	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		27	5898	+			1938			Spectrin 16.		E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	ENST00000352632.3	37	c.5812G>A	CCDS12559.1	.	.	.	.	.	.	.	.	.	.	G	10.94	1.493111	0.26774	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000392025;ENST00000392023	T;T;T;T	0.59364	1.38;1.38;1.38;0.27	4.47	4.47	0.54385	.	0.090795	0.44285	U	0.000465	T	0.37237	0.0996	N	0.04043	-0.29	0.32500	N	0.539032	B;B;B;B	0.31640	0.333;0.013;0.044;0.044	B;B;B;B	0.39660	0.306;0.03;0.03;0.04	T	0.49960	-0.8883	10	0.62326	D	0.03	.	6.6536	0.22975	0.1952:0.0:0.8048:0.0	.	681;614;1938;1938	C9JY79;E9PGQ5;Q9H254;Q71S06	.;.;SPTN4_HUMAN;.	I	1938;1938;1938;681;614	ENSP00000263373:V1938I;ENSP00000340345:V1938I;ENSP00000375879:V681I;ENSP00000375877:V614I	ENSP00000340345:V1938I	V	+	1	0	SPTBN4	45758046	0.518000	0.26234	1.000000	0.80357	0.157000	0.22087	1.029000	0.30140	2.321000	0.78463	0.591000	0.81541	GTC		0.647	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2				33	120	0	0	0	1	0	33	120		
CYP2A6	1548	broad.mit.edu	37	19	41352802	41352802	+	Missense_Mutation	SNP	G	G	C	rs560382680		TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:41352802G>C	ENST00000301141.5	-	5	829	c.809C>G	c.(808-810)tCc>tGc	p.S270C	CTC-490E21.12_ENST00000601627.1_Intron	NM_000762.5	NP_000753	P11509	CP2A6_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 6	270					coumarin catabolic process (GO:0046226)|coumarin metabolic process (GO:0009804)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum membrane (GO:0005789)	coumarin 7-hydroxylase activity (GO:0008389)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Acetaminophen(DB00316)|Amiodarone(DB01118)|Amlodipine(DB00381)|Amobarbital(DB01351)|Amphetamine(DB00182)|Antipyrine(DB01435)|Arformoterol(DB01274)|Azelastine(DB00972)|Azithromycin(DB00207)|Buprenorphine(DB00921)|Bupropion(DB01156)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Cisapride(DB00604)|Clofibrate(DB00636)|Clomifene(DB00882)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Dapagliflozin(DB06292)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Diethylstilbestrol(DB00255)|Dronabinol(DB00470)|Eletriptan(DB00216)|Ezogabine(DB04953)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Flurazepam(DB00690)|Fomepizole(DB01213)|Formoterol(DB00983)|Halothane(DB01159)|Ifosfamide(DB01181)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Letrozole(DB01006)|Lidocaine(DB00281)|Lorcaserin(DB04871)|Memantine(DB01043)|Menadione(DB00170)|Methimazole(DB00763)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Metyrapone(DB01011)|Miconazole(DB01110)|Montelukast(DB00471)|Nevirapine(DB00238)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Norfloxacin(DB01059)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Pilocarpine(DB01085)|Prednisolone(DB00860)|Progesterone(DB00396)|Propofol(DB00818)|Rifampicin(DB01045)|Rosiglitazone(DB00412)|Selegiline(DB01037)|Sevoflurane(DB01236)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tranylcypromine(DB00752)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Zidovudine(DB00495)	GATGAGAAAGGAGTCAATGAA	0.582																																						uc002opl.3		NaN																	0				ovary(2)	2						c.(808-810)TCC>TGC		cytochrome P450, family 2, subfamily A,	Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752)						112.0	91.0	98.0					19																	41352802		2203	4300	6503	SO:0001583	missense	1548				coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding	g.chr19:41352802G>C	AF182275	CCDS12568.1	19q13.2	2013-11-11	2003-01-14		ENSG00000255974	ENSG00000255974		"""Cytochrome P450s"""	2610	protein-coding gene	gene with protein product		122720	"""cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 6"""	CYP2A3		7668294, 2748347	Standard	NM_000762		Approved	CPA6, CYP2A	uc002opl.4	P11509	OTTHUMG00000182713	ENST00000301141.5:c.809C>G	19.37:g.41352802G>C	ENSP00000301141:p.Ser270Cys					CYP2A6_uc010ehe.1_Missense_Mutation_p.S66C|CYP2A6_uc010ehf.1_RNA	p.S270C	NM_000762	NP_000753	P11509	CP2A6_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		5	830	-			270					A7YAE5|B2R7F6|P00190|P10890|Q16803|Q4VAT9|Q4VAU0|Q4VAU1|Q9H1Z7|Q9UCU0|Q9UK48	Missense_Mutation	SNP	ENST00000301141.5	37	c.809C>G	CCDS12568.1	.	.	.	.	.	.	.	.	.	.	-	3.500	-0.101972	0.06967	.	.	ENSG00000255974	ENST00000301141	T	0.68765	-0.35	2.37	2.37	0.29283	.	0.056947	0.64402	D	0.000001	T	0.57489	0.2057	N	0.12443	0.215	0.25321	N	0.989112	B;D	0.89917	0.02;1.0	B;D	0.97110	0.086;1.0	T	0.53563	-0.8421	10	0.02654	T	1	.	8.5396	0.33384	0.0:0.241:0.759:0.0	.	270;270	Q13120;P11509	.;CP2A6_HUMAN	C	270	ENSP00000301141:S270C	ENSP00000301141:S270C	S	-	2	0	CYP2A6	46044642	0.005000	0.15991	1.000000	0.80357	0.987000	0.75469	0.339000	0.19875	1.339000	0.45563	0.386000	0.25728	TCC		0.582	CYP2A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463259.1		NM_000762		9	76	0	0	0	1	0	9	76		
ZNF574	64763	broad.mit.edu	37	19	42585402	42585402	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:42585402G>C	ENST00000600245.1	+	2	3299	c.2644G>C	c.(2644-2646)Gag>Cag	p.E882Q	ZNF574_ENST00000359044.4_Missense_Mutation_p.E882Q|CTB-59C6.3_ENST00000594531.1_RNA|ZNF574_ENST00000222339.7_Missense_Mutation_p.E972Q			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	882					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				GGAAGCCATTGAGATCTACCC	0.642																																						uc002osm.3		NaN																	0					0						c.(2644-2646)GAG>CAG		zinc finger protein 574							72.0	67.0	69.0					19																	42585402		2203	4300	6503	SO:0001583	missense	64763				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:42585402G>C	AK074788	CCDS12596.1	19q13.2	2013-09-20			ENSG00000105732	ENSG00000105732		"""Zinc fingers, C2H2-type"""	26166	protein-coding gene	gene with protein product						12477932	Standard	NM_022752		Approved	FLJ22059	uc002osm.4	Q6ZN55	OTTHUMG00000182751	ENST00000600245.1:c.2644G>C	19.37:g.42585402G>C	ENSP00000469029:p.Glu882Gln					ZNF574_uc002osk.3_Missense_Mutation_p.E972Q	p.E882Q	NM_022752	NP_073589	Q6ZN55	ZN574_HUMAN			2	2813	+		Prostate(69;0.059)	882					Q6IPE0|Q6ZN10|Q7L5Z5|Q8NCE3|Q9H6N0	Missense_Mutation	SNP	ENST00000600245.1	37	c.2644G>C	CCDS12596.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.85|19.85	3.903700|3.903700	0.72754|0.72754	.|.	.|.	ENSG00000105732|ENSG00000105732	ENST00000222339;ENST00000359044|ENST00000535775	T;T|.	0.06294|.	3.32;3.34|.	4.71|4.71	4.71|4.71	0.59529|0.59529	.|.	0.067490|.	0.56097|.	D|.	0.000032|.	T|T	0.54013|0.54013	0.1832|0.1832	N|N	0.19112|0.19112	0.55|0.55	0.40562|0.40562	D|D	0.981229|0.981229	D;D|.	0.76494|.	0.997;0.999|.	P;D|.	0.74023|.	0.878;0.982|.	T|T	0.57952|0.57952	-0.7722|-0.7722	10|6	0.72032|0.44086	D|T	0.01|0.13	-17.4287|-17.4287	16.5904|16.5904	0.84763|0.84763	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	882;971|.	Q6ZN55;Q6ZN55-2|.	ZN574_HUMAN;.|.	Q|F	972;882|488	ENSP00000222339:E972Q;ENSP00000351939:E882Q|.	ENSP00000222339:E972Q|ENSP00000445515:L488F	E|L	+|+	1|3	0|2	ZNF574|ZNF574	47277242|47277242	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.674000|0.674000	0.39518|0.39518	3.380000|3.380000	0.52448|0.52448	2.445000|2.445000	0.82738|0.82738	0.460000|0.460000	0.39030|0.39030	GAG|TTG		0.642	ZNF574-002	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463458.1		NM_022752		50	48	0	0	0	1	0	50	48		
ZNF526	116115	broad.mit.edu	37	19	42728831	42728831	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:42728831G>A	ENST00000301215.3	+	3	501	c.276G>A	c.(274-276)caG>caA	p.Q92Q		NM_133444.1	NP_597701.1	Q8TF50	ZN526_HUMAN	zinc finger protein 526	92					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3)	22		Prostate(69;0.0704)				TGACCACACAGAATGTTGGCC	0.617																																						uc002osz.1		NaN																	0					0						c.(274-276)CAG>CAA		zinc finger protein 526							67.0	64.0	65.0					19																	42728831		2203	4300	6503	SO:0001819	synonymous_variant	116115				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:42728831G>A	AB075831	CCDS12598.1	19q13.31	2013-01-08				ENSG00000167625		"""Zinc fingers, C2H2-type"""	29415	protein-coding gene	gene with protein product		614387				11853319	Standard	NM_133444		Approved	KIAA1951, MGC4267	uc002osz.1	Q8TF50		ENST00000301215.3:c.276G>A	19.37:g.42728831G>A							p.Q92Q	NM_133444	NP_597701	Q8TF50	ZN526_HUMAN			3	432	+		Prostate(69;0.0704)	92					B3KV29|Q69YI2|Q96E24	Silent	SNP	ENST00000301215.3	37	c.276G>A	CCDS12598.1																																																																																				0.617	ZNF526-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463681.2		XM_057401		37	63	0	0	0	1	0	37	63		
MEGF8	1954	broad.mit.edu	37	19	42837807	42837807	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:42837807G>A	ENST00000251268.6	+	2	238	c.238G>A	c.(238-240)Gag>Aag	p.E80K	MEGF8_ENST00000334370.4_Missense_Mutation_p.E80K	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	80	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CCTGGACACAGAGTGCACGTA	0.617																																						uc002otl.3		NaN																	0				ovary(1)	1						c.(238-240)GAG>AAG		multiple EGF-like-domains 8							89.0	93.0	92.0					19																	42837807		2073	4195	6268	SO:0001583	missense	1954					integral to membrane	calcium ion binding|structural molecule activity	g.chr19:42837807G>A	AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.238G>A	19.37:g.42837807G>A	ENSP00000251268:p.Glu80Lys						p.E80K	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN			2	873	+		Prostate(69;0.00682)	80			Extracellular (Potential).|CUB 1.		A8KAY0|O75097	Missense_Mutation	SNP	ENST00000251268.6	37	c.238G>A		.	.	.	.	.	.	.	.	.	.	G	32	5.163539	0.94727	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	T;T	0.66099	-0.19;-0.19	5.24	5.24	0.73138	.	.	.	.	.	D	0.84488	0.5483	H	0.94734	3.575	0.80722	D	1	D	0.56035	0.974	D	0.70487	0.969	D	0.88700	0.3215	9	0.72032	D	0.01	-8.5856	16.3026	0.82830	0.0:0.0:1.0:0.0	.	80	Q7Z7M0-2	.	K	80	ENSP00000334219:E80K;ENSP00000251268:E80K	ENSP00000251268:E80K	E	+	1	0	MEGF8	47529647	1.000000	0.71417	0.920000	0.36463	0.908000	0.53690	8.684000	0.91242	2.453000	0.82957	0.486000	0.48141	GAG		0.617	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1		NM_001410		21	90	0	0	0	1	0	21	90		
ZNF45	7596	broad.mit.edu	37	19	44418392	44418392	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:44418392C>T	ENST00000269973.5	-	10	2286	c.1196G>A	c.(1195-1197)cGg>cAg	p.R399Q	RP11-15A1.2_ENST00000586247.1_RNA|ZNF45_ENST00000589703.1_Missense_Mutation_p.R399Q	NM_003425.3	NP_003416.1	Q02386	ZNF45_HUMAN	zinc finger protein 45	399					gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17						ATTTGAGGCCCGGCAGAAGCC	0.502																																						uc002oxu.1		NaN																	0				ovary(1)	1						c.(1195-1197)CGG>CAG		zinc finger protein 45							84.0	83.0	83.0					19																	44418392		2203	4300	6503	SO:0001583	missense	7596				multicellular organismal development	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:44418392C>T	M67509	CCDS12632.1	19q13.2	2013-01-08	2005-01-11			ENSG00000124459		"""Zinc fingers, C2H2-type"", ""-"""	13111	protein-coding gene	gene with protein product		194554	"""zinc finger protein 45 (a Kruppel-associated box (KRAB) domain polypeptide)"", ""zinc finger protein 13"""	ZNF13		9067431	Standard	NM_003425		Approved		uc002oxw.2	Q02386		ENST00000269973.5:c.1196G>A	19.37:g.44418392C>T	ENSP00000269973:p.Arg399Gln					ZNF45_uc002oxw.1_Missense_Mutation_p.R399Q|ZNF45_uc002oxv.1_Missense_Mutation_p.R399Q	p.R399Q	NM_003425	NP_003416	Q02386	ZNF45_HUMAN			4	1295	-			399			C2H2-type 9.		P17016|P78472|Q9P1U9	Missense_Mutation	SNP	ENST00000269973.5	37	c.1196G>A	CCDS12632.1	.	.	.	.	.	.	.	.	.	.	C	9.777	1.174277	0.21704	.	.	ENSG00000124459	ENST00000269973;ENST00000328762	T	0.35973	1.28	3.62	0.181	0.15073	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.248808	0.21195	N	0.078569	T	0.10680	0.0261	N	0.02685	-0.53	0.09310	N	1	B	0.26483	0.15	B	0.10450	0.005	T	0.37197	-0.9716	10	0.02654	T	1	-10.455	8.7847	0.34814	0.0:0.7039:0.0:0.2961	.	399	Q02386	ZNF45_HUMAN	Q	399	ENSP00000269973:R399Q	ENSP00000269973:R399Q	R	-	2	0	ZNF45	49110232	0.000000	0.05858	0.996000	0.52242	0.982000	0.71751	-1.190000	0.03058	0.312000	0.23038	0.462000	0.41574	CGG		0.502	ZNF45-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459919.1		NM_003425		53	85	0	0	0	1	0	53	85		
ZNF223	7766	broad.mit.edu	37	19	44570825	44570825	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:44570825C>G	ENST00000434772.3	+	5	1099	c.844C>G	c.(844-846)Cac>Gac	p.H282D	ZNF223_ENST00000591793.1_Missense_Mutation_p.H392D	NM_013361.4	NP_037493.3	Q9UK11	ZN223_HUMAN	zinc finger protein 223	282					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18		Prostate(69;0.0352)				TCAGAGAATTCACACAGGGGA	0.423																																						uc002oyf.1		NaN																	0				ovary(1)	1						c.(844-846)CAC>GAC		zinc finger protein 223							130.0	130.0	130.0					19																	44570825		2203	4300	6503	SO:0001583	missense	7766				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44570825C>G	AF187989	CCDS12635.1	19q13.2	2013-01-08				ENSG00000178386		"""Zinc fingers, C2H2-type"", ""-"""	13016	protein-coding gene	gene with protein product							Standard	XM_006723365		Approved		uc002oyf.1	Q9UK11		ENST00000434772.3:c.844C>G	19.37:g.44570825C>G	ENSP00000401947:p.His282Asp					ZNF284_uc010ejd.2_RNA	p.H282D	NM_013361	NP_037493	Q9UK11	ZN223_HUMAN			5	1097	+		Prostate(69;0.0352)	282			C2H2-type 4.		Q15736|Q8TBJ3|Q9HCA9	Missense_Mutation	SNP	ENST00000434772.3	37	c.844C>G	CCDS12635.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.336634	0.81801	.	.	ENSG00000178386	ENST00000434772	T	0.67698	-0.28	2.46	2.46	0.29980	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.84880	0.5570	H	0.94582	3.555	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.88249	0.2915	9	0.87932	D	0	.	12.004	0.53248	0.0:1.0:0.0:0.0	.	282	Q9UK11	ZN223_HUMAN	D	282	ENSP00000401947:H282D	ENSP00000401947:H282D	H	+	1	0	ZNF223	49262665	1.000000	0.71417	0.744000	0.31058	0.656000	0.38851	7.202000	0.77856	1.360000	0.45960	0.313000	0.20887	CAC		0.423	ZNF223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460469.2				112	188	0	0	0	1	0	112	188		
ZNF223	7766	broad.mit.edu	37	19	44571219	44571219	+	Nonsense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:44571219C>G	ENST00000434772.3	+	5	1493	c.1238C>G	c.(1237-1239)tCa>tGa	p.S413*	ZNF223_ENST00000591793.1_Nonsense_Mutation_p.S523*	NM_013361.4	NP_037493.3	Q9UK11	ZN223_HUMAN	zinc finger protein 223	413					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18		Prostate(69;0.0352)				AGACAGGCCTCAAGTATTTTG	0.423																																						uc002oyf.1		NaN																	0				ovary(1)	1						c.(1237-1239)TCA>TGA		zinc finger protein 223							109.0	107.0	108.0					19																	44571219		2203	4300	6503	SO:0001587	stop_gained	7766				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44571219C>G	AF187989	CCDS12635.1	19q13.2	2013-01-08				ENSG00000178386		"""Zinc fingers, C2H2-type"", ""-"""	13016	protein-coding gene	gene with protein product							Standard	XM_006723365		Approved		uc002oyf.1	Q9UK11		ENST00000434772.3:c.1238C>G	19.37:g.44571219C>G	ENSP00000401947:p.Ser413*					ZNF284_uc010ejd.2_RNA	p.S413*	NM_013361	NP_037493	Q9UK11	ZN223_HUMAN			5	1491	+		Prostate(69;0.0352)	413			C2H2-type 9.		Q15736|Q8TBJ3|Q9HCA9	Nonsense_Mutation	SNP	ENST00000434772.3	37	c.1238C>G	CCDS12635.1	.	.	.	.	.	.	.	.	.	.	C	37	6.162387	0.97338	.	.	ENSG00000178386	ENST00000434772	.	.	.	2.46	-0.00805	0.14006	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	4.5834	0.12269	0.0:0.5702:0.1823:0.2475	.	.	.	.	X	413	.	ENSP00000401947:S413X	S	+	2	0	ZNF223	49263059	0.000000	0.05858	0.000000	0.03702	0.956000	0.61745	-0.102000	0.10956	-0.054000	0.13266	0.313000	0.20887	TCA		0.423	ZNF223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460469.2				13	131	0	0	0	1	0	13	131		
ERCC1	2067	broad.mit.edu	37	19	45926592	45926592	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:45926592G>A	ENST00000300853.3	-	2	632	c.41C>T	c.(40-42)tCa>tTa	p.S14L	ERCC1_ENST00000589165.1_Missense_Mutation_p.S14L|ERCC1_ENST00000340192.7_Missense_Mutation_p.S14L|ERCC1_ENST00000591636.1_Missense_Mutation_p.S14L|ERCC1_ENST00000423698.2_Missense_Mutation_p.S14L|ERCC1_ENST00000013807.5_Missense_Mutation_p.S14L	NM_001983.3	NP_001974.1	P07992	ERCC1_HUMAN	excision repair cross-complementation group 1	14					cell proliferation (GO:0008283)|chromosome organization (GO:0051276)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|male gonad development (GO:0008584)|mitotic recombination (GO:0006312)|multicellular organism growth (GO:0035264)|multicellular organismal aging (GO:0010259)|negative regulation of telomere maintenance (GO:0032205)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|nucleotide-excision repair, DNA incision, 5'-to lesion (GO:0006296)|oogenesis (GO:0048477)|post-embryonic hemopoiesis (GO:0035166)|pyrimidine dimer repair by nucleotide-excision repair (GO:0000720)|replicative cell aging (GO:0001302)|response to nutrient (GO:0007584)|response to oxidative stress (GO:0006979)|response to sucrose (GO:0009744)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)|syncytium formation (GO:0006949)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	cytoplasm (GO:0005737)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	damaged DNA binding (GO:0003684)|endonuclease activity (GO:0004519)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|single-stranded DNA binding (GO:0003697)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|skin(1)	15		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0247)		TGGCGGCCCTGAGGGCTGGGG	0.622								Nucleotide excision repair (NER)																														uc002pbs.1		NaN																	0				ovary(2)	2						c.(40-42)TCA>TTA	NER	excision repair cross-complementing 1 isofrom 2							62.0	54.0	57.0					19																	45926592		2203	4300	6503	SO:0001583	missense	2067				mitotic recombination|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|response to oxidative stress|transcription-coupled nucleotide-excision repair	cytoplasm|nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair complex	damaged DNA binding|endonuclease activity|protein C-terminus binding|protein domain specific binding|single-stranded DNA binding	g.chr19:45926592G>A		CCDS12662.1, CCDS12663.1, CCDS54279.1	19q13.32	2014-03-07	2014-03-07			ENSG00000012061			3433	protein-coding gene	gene with protein product		126380	"""excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)"""			6462228	Standard	NM_001983		Approved	RAD10	uc002pbs.2	P07992		ENST00000300853.3:c.41C>T	19.37:g.45926592G>A	ENSP00000300853:p.Ser14Leu					ERCC1_uc002pbt.1_Missense_Mutation_p.S14L|ERCC1_uc002pbu.1_Missense_Mutation_p.S14L|ERCC1_uc002pbv.2_Missense_Mutation_p.S14L	p.S14L	NM_001983	NP_001974	P07992	ERCC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0247)	2	187	-		Ovarian(192;0.051)|all_neural(266;0.112)	14					B2RC01|B3KRR0|Q7Z7F5|Q96S40	Missense_Mutation	SNP	ENST00000300853.3	37	c.41C>T	CCDS12662.1	.	.	.	.	.	.	.	.	.	.	G	10.56	1.383502	0.25031	.	.	ENSG00000012061	ENST00000300853;ENST00000340192;ENST00000423698;ENST00000013807;ENST00000428893	T;T;T;T	0.48522	0.86;0.84;0.88;0.81	5.03	3.97	0.46021	.	1.119980	0.06658	N	0.763980	T	0.34890	0.0913	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.19331	0.035;0.008;0.008;0.008	B;B;B;B	0.17433	0.018;0.004;0.011;0.011	T	0.25984	-1.0116	10	0.54805	T	0.06	-0.0749	10.7881	0.46417	0.0:0.0:0.8109:0.1891	.	14;14;14;14	Q7Z7F5;B3KRR0;Q96S40;P07992	.;.;.;ERCC1_HUMAN	L	14	ENSP00000300853:S14L;ENSP00000345203:S14L;ENSP00000394875:S14L;ENSP00000013807:S14L	ENSP00000013807:S14L	S	-	2	0	ERCC1	50618432	0.017000	0.18338	0.007000	0.13788	0.029000	0.11900	2.401000	0.44513	1.438000	0.47492	0.561000	0.74099	TCA		0.622	ERCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459542.1		NM_001983		5	19	0	0	0	1	0	5	19		
PNMAL2	57469	broad.mit.edu	37	19	46998632	46998632	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:46998632C>T	ENST00000377655.2	-	1	90	c.91G>A	c.(91-93)Gag>Aag	p.E31K	AC011484.1_ENST00000377652.3_3'UTR|PNMAL2_ENST00000599531.1_Missense_Mutation_p.E31K|PNMAL2_ENST00000594749.1_Intron			Q9ULN7	PNML2_HUMAN	paraneoplastic Ma antigen family-like 2	31										central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)	8		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		tctgcctgctccaggccctcc	0.667																																						uc002pes.2		NaN																	0				central_nervous_system(1)	1						c.(91-93)GAG>AAG		PNMA-like 2							40.0	44.0	42.0					19																	46998632		2084	4208	6292	SO:0001583	missense	57469							g.chr19:46998632C>T	AB033009	CCDS59400.1	19q13.32	2014-02-12	2012-02-09		ENSG00000204851	ENSG00000204851		"""Paraneoplastic Ma antigens"""	29206	protein-coding gene	gene with protein product			"""PNMA-like 2"""			10574461	Standard	NM_020709		Approved	KIAA1183	uc002pes.2	Q9ULN7		ENST00000377655.2:c.91G>A	19.37:g.46998632C>T	ENSP00000366883:p.Glu31Lys					uc002peu.1_3'UTR	p.E31K	NM_020709	NP_065760	Q9ULN7	PNML2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)	1	538	-		Ovarian(192;0.00965)|all_neural(266;0.0459)	31					C9JGD5|M0R374|Q08E79|Q0D2F9|Q6ZVD1	Missense_Mutation	SNP	ENST00000377655.2	37	c.91G>A		.	.	.	.	.	.	.	.	.	.	C	13.92	2.382011	0.42207	.	.	ENSG00000204851	ENST00000377655	T	0.09445	2.98	2.98	0.612	0.17591	.	.	.	.	.	T	0.05364	0.0142	N	0.17082	0.46	0.09310	N	1	P	0.38677	0.642	B	0.29077	0.098	T	0.36625	-0.9740	9	0.38643	T	0.18	-7.2866	8.685	0.34232	0.0:0.5091:0.4909:0.0	.	31	Q9ULN7	PNML2_HUMAN	K	31	ENSP00000366883:E31K	ENSP00000366883:E31K	E	-	1	0	PNMAL2	51690472	0.001000	0.12720	0.002000	0.10522	0.220000	0.24768	0.685000	0.25378	0.223000	0.20920	0.655000	0.94253	GAG		0.667	PNMAL2-201	KNOWN	basic	protein_coding	protein_coding			NM_020709		18	65	0	0	0	1	0	18	65		
PRKD2	25865	broad.mit.edu	37	19	47195050	47195050	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:47195050G>A	ENST00000291281.4	-	12	1869	c.1644C>T	c.(1642-1644)gtC>gtT	p.V548V	PRKD2_ENST00000595515.1_Silent_p.V548V|PRKD2_ENST00000600194.1_Silent_p.V391V|RN7SL364P_ENST00000473668.2_RNA|PRKD2_ENST00000433867.1_Silent_p.V548V|PRKD2_ENST00000601806.1_Silent_p.V391V			Q9BZL6	KPCD2_HUMAN	protein kinase D2	548					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		AGATCTGGTAGACAGTGGCAA	0.577																																						uc002pfh.2		NaN																	0				ovary(2)|central_nervous_system(2)|stomach(1)|large_intestine(1)|lung(1)	7						c.(1642-1644)GTC>GTT		protein kinase D2 isoform A							85.0	80.0	82.0					19																	47195050		2203	4300	6503	SO:0001819	synonymous_variant	25865				cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity	g.chr19:47195050G>A	AF151021	CCDS12689.1, CCDS59401.1	19q13.2	2013-01-10				ENSG00000105287		"""Pleckstrin homology (PH) domain containing"""	17293	protein-coding gene	gene with protein product		607074				11042152, 11062248	Standard	NM_001079880		Approved	PKD2, HSPC187, DKFZP586E0820	uc002pfj.3	Q9BZL6		ENST00000291281.4:c.1644C>T	19.37:g.47195050G>A						PRKD2_uc002pfd.2_5'Flank|PRKD2_uc010eks.2_5'Flank|PRKD2_uc010ekt.2_5'UTR|PRKD2_uc002pfe.2_Silent_p.V68V|PRKD2_uc002pff.2_Silent_p.V68V|PRKD2_uc002pfg.2_Silent_p.V391V|PRKD2_uc002pfi.2_Silent_p.V548V|PRKD2_uc002pfj.2_Silent_p.V548V|PRKD2_uc010xye.1_Silent_p.V548V|PRKD2_uc002pfk.2_Silent_p.V391V	p.V548V	NM_001079881	NP_001073350	Q9BZL6	KPCD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)	13	1986	-		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	548					Q8TB08|Q9P0T6|Q9Y3X8	Silent	SNP	ENST00000291281.4	37	c.1644C>T	CCDS12689.1																																																																																				0.577	PRKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466591.1		NM_016457		27	57	0	0	0	1	0	27	57		
ARHGAP35	2909	broad.mit.edu	37	19	47423316	47423316	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:47423316G>C	ENST00000404338.3	+	1	1384	c.1384G>C	c.(1384-1386)Gag>Cag	p.E462Q		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	462	FF 3.				axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)										TATTATGAATGAGGATTTCTA	0.403																																						uc010ekv.2		NaN																	0				central_nervous_system(1)	1						c.(1384-1386)GAG>CAG		glucocorticoid receptor DNA binding factor 1							30.0	30.0	30.0					19																	47423316		1824	4077	5901	SO:0001583	missense	2909				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity	g.chr19:47423316G>C	M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"""Rho GTPase activating proteins"""	4591	protein-coding gene	gene with protein product		605277	"""glucocorticoid receptor DNA binding factor 1"""	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.1384G>C	19.37:g.47423316G>C	ENSP00000385720:p.Glu462Gln						p.E462Q	NM_004491	NP_004482	Q9NRY4	RHG35_HUMAN		all cancers(93;2.03e-05)|OV - Ovarian serous cystadenocarcinoma(262;2.57e-05)|Epithelial(262;0.00135)|GBM - Glioblastoma multiforme(486;0.0289)	1	1384	+		all_cancers(25;1.51e-09)|all_epithelial(76;1.87e-07)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|Ovarian(192;0.0129)|all_neural(266;0.026)|Breast(70;0.077)	462			FF 3.		A7E2A4|Q14452|Q9C0E1	Missense_Mutation	SNP	ENST00000404338.3	37	c.1384G>C	CCDS46127.1	.	.	.	.	.	.	.	.	.	.	G	18.23	3.578534	0.65878	.	.	ENSG00000160007	ENST00000317082;ENST00000501576;ENST00000404338	T	0.08102	3.13	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.26991	0.0661	M	0.65975	2.015	0.80722	D	1	D	0.60575	0.988	D	0.63488	0.915	T	0.00041	-1.2231	10	0.34782	T	0.22	-30.6605	19.1646	0.93551	0.0:0.0:1.0:0.0	.	462	Q9NRY4-2	.	Q	462	ENSP00000385720:E462Q	ENSP00000324820:E462Q	E	+	1	0	ARHGAP35	52115156	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	9.869000	0.99810	2.824000	0.97209	0.655000	0.94253	GAG		0.403	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1		NM_004491		17	37	0	0	0	1	0	17	37		
ARHGAP35	2909	broad.mit.edu	37	19	47423403	47423403	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:47423403G>C	ENST00000404338.3	+	1	1471	c.1471G>C	c.(1471-1473)Gaa>Caa	p.E491Q		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	491	FF 4.				axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)										AGCAAAGGAAGAATTTCAGGA	0.368																																						uc010ekv.2		NaN																	0				central_nervous_system(1)	1						c.(1471-1473)GAA>CAA		glucocorticoid receptor DNA binding factor 1							56.0	55.0	55.0					19																	47423403		1826	4076	5902	SO:0001583	missense	2909				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity	g.chr19:47423403G>C	M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"""Rho GTPase activating proteins"""	4591	protein-coding gene	gene with protein product		605277	"""glucocorticoid receptor DNA binding factor 1"""	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.1471G>C	19.37:g.47423403G>C	ENSP00000385720:p.Glu491Gln						p.E491Q	NM_004491	NP_004482	Q9NRY4	RHG35_HUMAN		all cancers(93;2.03e-05)|OV - Ovarian serous cystadenocarcinoma(262;2.57e-05)|Epithelial(262;0.00135)|GBM - Glioblastoma multiforme(486;0.0289)	1	1471	+		all_cancers(25;1.51e-09)|all_epithelial(76;1.87e-07)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|Ovarian(192;0.0129)|all_neural(266;0.026)|Breast(70;0.077)	491			FF 4.		A7E2A4|Q14452|Q9C0E1	Missense_Mutation	SNP	ENST00000404338.3	37	c.1471G>C	CCDS46127.1	.	.	.	.	.	.	.	.	.	.	G	13.63	2.294135	0.40594	.	.	ENSG00000160007	ENST00000317082;ENST00000501576;ENST00000404338	T	0.30981	1.51	5.95	5.95	0.96441	.	0.138650	0.64402	D	0.000004	T	0.26412	0.0645	N	0.24115	0.695	0.58432	D	0.999998	B	0.23249	0.082	B	0.28232	0.087	T	0.03933	-1.0991	10	0.25751	T	0.34	-14.525	19.1646	0.93551	0.0:0.0:1.0:0.0	.	491	Q9NRY4-2	.	Q	491	ENSP00000385720:E491Q	ENSP00000324820:E491Q	E	+	1	0	ARHGAP35	52115243	1.000000	0.71417	0.996000	0.52242	0.918000	0.54935	9.869000	0.99810	2.824000	0.97209	0.655000	0.94253	GAA		0.368	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1		NM_004491		30	54	0	0	0	1	0	30	54		
ARHGAP35	2909	broad.mit.edu	37	19	47424472	47424472	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:47424472G>C	ENST00000404338.3	+	1	2540	c.2540G>C	c.(2539-2541)aGa>aCa	p.R847T		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	847					axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)										TTTAGCATCAGAAAGAGCCGG	0.423																																						uc010ekv.2		NaN																	0				central_nervous_system(1)	1						c.(2539-2541)AGA>ACA		glucocorticoid receptor DNA binding factor 1							165.0	159.0	161.0					19																	47424472		1888	4110	5998	SO:0001583	missense	2909				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity	g.chr19:47424472G>C	M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"""Rho GTPase activating proteins"""	4591	protein-coding gene	gene with protein product		605277	"""glucocorticoid receptor DNA binding factor 1"""	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.2540G>C	19.37:g.47424472G>C	ENSP00000385720:p.Arg847Thr						p.R847T	NM_004491	NP_004482	Q9NRY4	RHG35_HUMAN		all cancers(93;2.03e-05)|OV - Ovarian serous cystadenocarcinoma(262;2.57e-05)|Epithelial(262;0.00135)|GBM - Glioblastoma multiforme(486;0.0289)	1	2540	+		all_cancers(25;1.51e-09)|all_epithelial(76;1.87e-07)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|Ovarian(192;0.0129)|all_neural(266;0.026)|Breast(70;0.077)	847					A7E2A4|Q14452|Q9C0E1	Missense_Mutation	SNP	ENST00000404338.3	37	c.2540G>C	CCDS46127.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.031072	0.75504	.	.	ENSG00000160007	ENST00000317082;ENST00000404338	T	0.42900	0.96	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.64757	0.2627	M	0.67397	2.05	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.66400	-0.5933	10	0.87932	D	0	-19.3466	18.5057	0.90896	0.0:0.0:1.0:0.0	.	847	Q9NRY4-2	.	T	847	ENSP00000385720:R847T	ENSP00000324820:R847T	R	+	2	0	ARHGAP35	52116312	1.000000	0.71417	0.993000	0.49108	0.985000	0.73830	9.810000	0.99221	2.743000	0.94032	0.655000	0.94253	AGA		0.423	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1		NM_004491		65	84	0	0	0	1	0	65	84		
LIG1	3978	broad.mit.edu	37	19	48640828	48640828	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:48640828G>A	ENST00000263274.7	-	13	1624	c.1205C>T	c.(1204-1206)tCc>tTc	p.S402F	LIG1_ENST00000536218.1_Missense_Mutation_p.S334F|LIG1_ENST00000427526.2_Missense_Mutation_p.S371F	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	402					anatomical structure morphogenesis (GO:0009653)|base-excision repair (GO:0006284)|cell division (GO:0051301)|DNA biosynthetic process (GO:0071897)|DNA ligation involved in DNA repair (GO:0051103)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|response to hydrogen peroxide (GO:0042542)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromosome (GO:0005694)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	GAAGACCCCGGAGGCAGTGAG	0.677								Nucleotide excision repair (NER)																														uc002pia.1		NaN																	0				large_intestine(2)|lung(1)	3						c.(1204-1206)TCC>TTC	NER	DNA ligase I	Bleomycin(DB00290)						52.0	49.0	50.0					19																	48640828		2203	4299	6502	SO:0001583	missense	3978				anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding	g.chr19:48640828G>A		CCDS12711.1, CCDS74409.1, CCDS74410.1	19q13.2-q13.3	2014-09-17				ENSG00000105486	6.5.1.1		6598	protein-coding gene	gene with protein product		126391					Standard	XM_005258934		Approved		uc002pia.1	P18858		ENST00000263274.7:c.1205C>T	19.37:g.48640828G>A	ENSP00000263274:p.Ser402Phe					LIG1_uc010xze.1_Missense_Mutation_p.S95F|LIG1_uc002phz.1_RNA|LIG1_uc002pib.1_RNA|LIG1_uc010xzf.1_Missense_Mutation_p.S334F|LIG1_uc010xzg.1_Missense_Mutation_p.S371F|LIG1_uc010xzh.1_RNA	p.S402F	NM_000234	NP_000225	P18858	DNLI1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	13	1325	-		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)	402					B2RAI8|Q2TB12|Q32P23	Missense_Mutation	SNP	ENST00000263274.7	37	c.1205C>T	CCDS12711.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.29|13.29	2.193752|2.193752	0.38707|0.38707	.|.	.|.	ENSG00000105486|ENSG00000105486	ENST00000542460|ENST00000263274;ENST00000544761;ENST00000427526;ENST00000536218	T|T;T;T	0.11385|0.18960	2.78|2.18;2.18;2.18	5.16|5.16	5.16|5.16	0.70880|0.70880	.|DNA ligase, ATP-dependent, N-terminal (3);	.|0.856468	.|0.10180	.|N	.|0.706007	T|T	0.37732|0.37732	0.1014|0.1014	L|L	0.59436|0.59436	1.845|1.845	0.09310|0.09310	N|N	1|1	.|B;B;P	.|0.49635	.|0.108;0.034;0.926	.|B;B;P	.|0.52159	.|0.096;0.036;0.691	T|T	0.24657|0.24657	-1.0154|-1.0154	7|10	0.87932|0.56958	D|D	0|0.05	-6.6948|-6.6948	16.5115|16.5115	0.84287|0.84287	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|371;334;402	.|B4DTU4;F5GZ28;P18858	.|.;.;DNLI1_HUMAN	S|F	394|402;433;371;334	ENSP00000445928:P394S|ENSP00000263274:S402F;ENSP00000442841:S371F;ENSP00000441531:S334F	ENSP00000445928:P394S|ENSP00000263274:S402F	P|S	-|-	1|2	0|0	LIG1|LIG1	53332640|53332640	0.002000|0.002000	0.14202|0.14202	0.011000|0.011000	0.14972|0.14972	0.015000|0.015000	0.08874|0.08874	1.141000|1.141000	0.31528|0.31528	2.581000|2.581000	0.87130|0.87130	0.655000|0.655000	0.94253|0.94253	CCG|TCC		0.677	LIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465575.1		NM_000234		33	25	0	0	0	1	0	33	25		
LIG1	3978	broad.mit.edu	37	19	48643250	48643250	+	Silent	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:48643250G>C	ENST00000263274.7	-	12	1484	c.1065C>G	c.(1063-1065)ctC>ctG	p.L355L	LIG1_ENST00000536218.1_Silent_p.L287L|LIG1_ENST00000427526.2_Silent_p.L324L	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	355					anatomical structure morphogenesis (GO:0009653)|base-excision repair (GO:0006284)|cell division (GO:0051301)|DNA biosynthetic process (GO:0071897)|DNA ligation involved in DNA repair (GO:0051103)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|response to hydrogen peroxide (GO:0042542)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromosome (GO:0005694)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	CCACTGCCTTGAGAAGGACAC	0.622								Nucleotide excision repair (NER)																														uc002pia.1		NaN																	0				large_intestine(2)|lung(1)	3						c.(1063-1065)CTC>CTG	NER	DNA ligase I	Bleomycin(DB00290)						100.0	97.0	98.0					19																	48643250		2203	4300	6503	SO:0001819	synonymous_variant	3978				anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding	g.chr19:48643250G>C		CCDS12711.1, CCDS74409.1, CCDS74410.1	19q13.2-q13.3	2014-09-17				ENSG00000105486	6.5.1.1		6598	protein-coding gene	gene with protein product		126391					Standard	XM_005258934		Approved		uc002pia.1	P18858		ENST00000263274.7:c.1065C>G	19.37:g.48643250G>C						LIG1_uc010xze.1_Silent_p.L48L|LIG1_uc002phz.1_RNA|LIG1_uc002pib.1_RNA|LIG1_uc010xzf.1_Silent_p.L287L|LIG1_uc010xzg.1_Silent_p.L324L|LIG1_uc010xzh.1_RNA	p.L355L	NM_000234	NP_000225	P18858	DNLI1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	12	1185	-		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)	355					B2RAI8|Q2TB12|Q32P23	Silent	SNP	ENST00000263274.7	37	c.1065C>G	CCDS12711.1																																																																																				0.622	LIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465575.1		NM_000234		29	123	0	0	0	1	0	29	123		
LIG1	3978	broad.mit.edu	37	19	48660322	48660322	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:48660322C>T	ENST00000263274.7	-	5	738	c.319G>A	c.(319-321)Gac>Aac	p.D107N	LIG1_ENST00000536218.1_Missense_Mutation_p.D107N|LIG1_ENST00000427526.2_Missense_Mutation_p.D77N|LIG1_ENST00000599165.1_Intron	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	107					anatomical structure morphogenesis (GO:0009653)|base-excision repair (GO:0006284)|cell division (GO:0051301)|DNA biosynthetic process (GO:0071897)|DNA ligation involved in DNA repair (GO:0051103)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|response to hydrogen peroxide (GO:0042542)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromosome (GO:0005694)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	GGAGAGGTGTCAGAGAGGGAA	0.582								Nucleotide excision repair (NER)																														uc002pia.1		NaN																	0				large_intestine(2)|lung(1)	3						c.(319-321)GAC>AAC	NER	DNA ligase I	Bleomycin(DB00290)						118.0	117.0	117.0					19																	48660322		2203	4300	6503	SO:0001583	missense	3978				anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding	g.chr19:48660322C>T		CCDS12711.1, CCDS74409.1, CCDS74410.1	19q13.2-q13.3	2014-09-17				ENSG00000105486	6.5.1.1		6598	protein-coding gene	gene with protein product		126391					Standard	XM_005258934		Approved		uc002pia.1	P18858		ENST00000263274.7:c.319G>A	19.37:g.48660322C>T	ENSP00000263274:p.Asp107Asn					LIG1_uc002phz.1_RNA|LIG1_uc002pib.1_RNA|LIG1_uc010xzf.1_Missense_Mutation_p.D107N|LIG1_uc010xzg.1_Missense_Mutation_p.D77N|LIG1_uc010xzh.1_RNA	p.D107N	NM_000234	NP_000225	P18858	DNLI1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	5	439	-		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)	107					B2RAI8|Q2TB12|Q32P23	Missense_Mutation	SNP	ENST00000263274.7	37	c.319G>A	CCDS12711.1	.	.	.	.	.	.	.	.	.	.	C	11.75	1.730359	0.30684	.	.	ENSG00000105486	ENST00000263274;ENST00000544761;ENST00000427526;ENST00000536218;ENST00000542460	T;T;T;T	0.56776	0.54;0.44;0.52;2.0	4.33	-0.506	0.11989	.	1.974330	0.02328	N	0.073686	T	0.36386	0.0965	N	0.19112	0.55	0.09310	N	1	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.01281	0.0;0.0;0.0	T	0.11743	-1.0575	10	0.21014	T	0.42	-0.8427	6.8136	0.23819	0.0:0.4124:0.0:0.5876	.	77;107;107	B4DTU4;F5GZ28;P18858	.;.;DNLI1_HUMAN	N	107;139;77;107;107	ENSP00000263274:D107N;ENSP00000442841:D77N;ENSP00000441531:D107N;ENSP00000445928:D107N	ENSP00000263274:D107N	D	-	1	0	LIG1	53352134	0.000000	0.05858	0.000000	0.03702	0.041000	0.13682	-0.445000	0.06845	-0.140000	0.11394	0.655000	0.94253	GAC		0.582	LIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465575.1		NM_000234		20	136	0	0	0	1	0	20	136		
PLEKHA4	57664	broad.mit.edu	37	19	49341304	49341304	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:49341304C>G	ENST00000263265.6	-	19	2602	c.2047G>C	c.(2047-2049)Gag>Cag	p.E683Q	HSD17B14_ENST00000599157.1_5'Flank|HSD17B14_ENST00000263278.4_5'Flank|PLEKHA4_ENST00000355496.5_Nonstop_Mutation_p.*584S	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	683						cytoplasm (GO:0005737)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		TGCGACGCCTCAGTAGCCAGG	0.557																																						uc002pkx.2		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(2047-2049)GAG>CAG		pleckstrin homology domain containing family A							81.0	84.0	83.0					19																	49341304		2203	4300	6503	SO:0001583	missense	57664					cytoplasm|membrane	1-phosphatidylinositol binding	g.chr19:49341304C>G	AY007233	CCDS12737.1, CCDS54291.1	19q13.33	2013-01-10	2002-01-14			ENSG00000105559		"""Pleckstrin homology (PH) domain containing"""	14339	protein-coding gene	gene with protein product		607769	"""pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 4"""			11001876	Standard	NM_020904		Approved	PEPP1	uc002pkx.3	Q9H4M7		ENST00000263265.6:c.2047G>C	19.37:g.49341304C>G	ENSP00000263265:p.Glu683Gln					HSD17B14_uc002pkv.1_5'Flank|HSD17B14_uc010emk.1_5'Flank|PLEKHA4_uc002pkw.1_Nonstop_Mutation_p.*178S|PLEKHA4_uc010eml.2_Nonstop_Mutation_p.*584S	p.E683Q	NM_020904	NP_065955	Q9H4M7	PKHA4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)	19	2598	-		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)	683					Q8N4M8|Q8N658	Missense_Mutation	SNP	ENST00000263265.6	37	c.2047G>C	CCDS12737.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	10.81|10.81	1.456134|1.456134	0.26161|0.26161	.|.	.|.	ENSG00000105559|ENSG00000105559	ENST00000263265|ENST00000355496	T|.	0.29917|.	1.55|.	3.97|3.97	2.91|2.91	0.33838|0.33838	.|.	0.199857|.	0.24869|.	N|.	0.034942|.	T|.	0.35068|.	0.0919|.	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	P|.	0.34522|.	0.455|.	B|.	0.31614|.	0.133|.	T|.	0.19451|.	-1.0305|.	9|.	0.72032|.	D|.	0.01|.	.|.	8.016|8.016	0.30381|0.30381	0.0:0.8854:0.0:0.1146|0.0:0.8854:0.0:0.1146	.|.	683|.	Q9H4M7|.	PKHA4_HUMAN|.	Q|S	683|584	ENSP00000263265:E683Q|.	ENSP00000263265:E683Q|.	E|X	-|-	1|2	0|2	PLEKHA4|PLEKHA4	54033116|54033116	0.953000|0.953000	0.32496|0.32496	0.964000|0.964000	0.40570|0.40570	0.623000|0.623000	0.37688|0.37688	1.996000|1.996000	0.40776|0.40776	1.034000|1.034000	0.39945|0.39945	0.546000|0.546000	0.68486|0.68486	GAG|TGA		0.557	PLEKHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466216.1				14	94	0	0	0	1	0	14	94		
GYS1	2997	broad.mit.edu	37	19	49481247	49481247	+	Silent	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:49481247G>C	ENST00000323798.3	-	10	1438	c.1242C>G	c.(1240-1242)ccC>ccG	p.P414P	GYS1_ENST00000540532.1_3'UTR|GYS1_ENST00000544287.1_Silent_p.P47P|GYS1_ENST00000263276.6_Silent_p.P350P|GYS1_ENST00000541188.1_Silent_p.P334P	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	414					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|heart development (GO:0007507)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|inclusion body (GO:0016234)|membrane (GO:0016020)	glucose binding (GO:0005536)|glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein kinase binding (GO:0019901)			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		TGTTCATGTCGGGAAGGCTCC	0.542																																						uc002plp.2		NaN																	0				ovary(2)	2						c.(1240-1242)CCC>CCG		glycogen synthase 1 (muscle) isoform 1							157.0	123.0	134.0					19																	49481247		2203	4300	6503	SO:0001819	synonymous_variant	2997				glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding	g.chr19:49481247G>C		CCDS12747.1, CCDS54292.1	19q13.3	2013-02-22			ENSG00000104812	ENSG00000104812	2.4.1.11	"""Glycosyltransferase group 1 domain containing"""	4706	protein-coding gene	gene with protein product		138570		GYS			Standard	NM_002103		Approved	GSY	uc002plp.3	P13807	OTTHUMG00000150723	ENST00000323798.3:c.1242C>G	19.37:g.49481247G>C						GYS1_uc010xzy.1_Silent_p.P47P|GYS1_uc010emm.2_Silent_p.P350P|GYS1_uc010xzz.1_Silent_p.P334P|GYS1_uc010yaa.1_RNA	p.P414P	NM_002103	NP_002094	P13807	GYS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)	10	1483	-		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)	414					Q9BTT9	Silent	SNP	ENST00000323798.3	37	c.1242C>G	CCDS12747.1																																																																																				0.542	GYS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319791.1		NM_002103		13	99	0	0	0	1	0	13	99		
KLK5	25818	broad.mit.edu	37	19	51452167	51452167	+	Silent	SNP	A	A	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:51452167A>G	ENST00000336334.3	-	4	892	c.540T>C	c.(538-540)tcT>tcC	p.S180S	CTB-147C22.8_ENST00000594939.1_RNA|KLK5_ENST00000593428.1_Silent_p.S180S|KLK5_ENST00000391809.2_Silent_p.S180S|CTB-147C22.8_ENST00000601506.1_RNA	NM_012427.4	NP_036559	Q9Y337	KLK5_HUMAN	kallikrein-related peptidase 5	180	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				epidermis development (GO:0008544)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)	epidermal lamellar body (GO:0097209)|extracellular space (GO:0005615)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		TTGTCCCAGCAGAGGGACAAT	0.532																																						uc002pue.2		NaN																	0					0						c.(538-540)TCT>TCC		kallikrein-related peptidase 5 preproprotein							86.0	88.0	88.0					19																	51452167		2203	4300	6503	SO:0001819	synonymous_variant	25818				epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity	g.chr19:51452167A>G	AF135028	CCDS12810.1	19q13.33	2008-02-05	2006-10-27			ENSG00000167754		"""Kallikreins"""	6366	protein-coding gene	gene with protein product		605643	"""kallikrein 5"""			10514489, 10608802, 1680072, 4, 16800723, 17012259	Standard	NM_012427		Approved	SCTE, KLK-L2	uc002puf.3	Q9Y337		ENST00000336334.3:c.540T>C	19.37:g.51452167A>G						KLK5_uc002puf.2_Silent_p.S180S|KLK5_uc002pug.2_Silent_p.S180S	p.S180S	NM_001077491	NP_001070959	Q9Y337	KLK5_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)	5	758	-		all_neural(266;0.026)	180			Peptidase S1.		Q53ZR3|Q9HBG8	Silent	SNP	ENST00000336334.3	37	c.540T>C	CCDS12810.1																																																																																				0.532	KLK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465057.1		NM_012427		32	67	0	0	0	1	0	32	67		
KLK6	5653	broad.mit.edu	37	19	51466738	51466738	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:51466738C>G	ENST00000376851.3	-	4	704	c.265G>C	c.(265-267)Gtt>Ctt	p.V89L	KLK6_ENST00000391808.1_5'UTR|CTB-147C22.8_ENST00000601506.1_RNA|KLK6_ENST00000310157.2_Missense_Mutation_p.V89L|KLK6_ENST00000376853.4_Intron|KLK6_ENST00000456750.2_5'Flank|KLK6_ENST00000424910.2_Silent_p.L36L|KLK6_ENST00000594641.1_Missense_Mutation_p.V89L	NM_001012964.1	NP_001012982.1	Q92876	KLK6_HUMAN	kallikrein-related peptidase 6	89	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				amyloid precursor protein metabolic process (GO:0042982)|central nervous system development (GO:0007417)|collagen catabolic process (GO:0030574)|hormone metabolic process (GO:0042445)|myelination (GO:0042552)|neuron death (GO:0070997)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|protein autoprocessing (GO:0016540)|regulation of cell differentiation (GO:0045595)|regulation of neuron projection development (GO:0010975)|response to wounding (GO:0009611)|tissue regeneration (GO:0042246)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)		GCCCGGACAACAGAACTCTGC	0.572																																						uc002pui.2		NaN																	0					0						c.(265-267)GTT>CTT		kallikrein-related peptidase 6 isoform A							77.0	67.0	70.0					19																	51466738		2203	4300	6503	SO:0001583	missense	5653				amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration	endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus	protein binding|serine-type endopeptidase activity	g.chr19:51466738C>G	U62801	CCDS12811.1, CCDS42599.1	19q13.3	2011-09-07	2006-10-27			ENSG00000167755		"""Kallikreins"", ""Serine peptidases / Serine peptidases"""	6367	protein-coding gene	gene with protein product		602652	"""protease, serine, 18"", ""kallikrein 6 (neurosin, zyme)"""	PRSS9, PRSS18		9003450, 16800724, 16800723	Standard	NM_002774		Approved	Bssp, Klk7, neurosin	uc002pui.3	Q92876		ENST00000376851.3:c.265G>C	19.37:g.51466738C>G	ENSP00000366047:p.Val89Leu					KLK6_uc010eoj.2_Intron|KLK6_uc002puh.2_Missense_Mutation_p.V98L|KLK6_uc002puj.2_5'UTR|KLK6_uc010ycn.1_5'UTR|KLK6_uc002pul.2_Missense_Mutation_p.V89L|KLK6_uc002pum.2_5'UTR	p.V89L	NM_001012964	NP_001012982	Q92876	KLK6_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)	5	525	-		all_neural(266;0.026)	89			Peptidase S1.		A6NJA1|A8MW09|Q6H301	Missense_Mutation	SNP	ENST00000376851.3	37	c.265G>C	CCDS12811.1	.	.	.	.	.	.	.	.	.	.	N	23.0	4.366527	0.82463	.	.	ENSG00000167755	ENST00000310157;ENST00000376851	D;D	0.95103	-3.61;-3.61	4.69	4.69	0.59074	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.36101	N	0.002783	D	0.91818	0.7411	L	0.53561	1.675	0.29255	N	0.871707	B	0.26809	0.16	B	0.31191	0.125	D	0.88125	0.2834	10	0.72032	D	0.01	.	8.68	0.34203	0.0:0.8981:0.0:0.1019	.	89	Q92876	KLK6_HUMAN	L	89	ENSP00000309148:V89L;ENSP00000366047:V89L	ENSP00000309148:V89L	V	-	1	0	KLK6	56158550	0.011000	0.17503	0.053000	0.19242	0.897000	0.52465	1.956000	0.40382	2.431000	0.82371	0.486000	0.48141	GTT		0.572	KLK6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465060.1		NM_002774		13	79	0	0	0	1	0	13	79		
ZNF836	162962	broad.mit.edu	37	19	52663800	52663800	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:52663800C>T	ENST00000322146.8	-	4	581	c.60G>A	c.(58-60)gaG>gaA	p.E20E	ZNF836_ENST00000597252.1_Silent_p.E20E|ZNF836_ENST00000597065.1_Silent_p.E20E|CTC-471J1.8_ENST00000594362.1_RNA	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	20	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						ATTTCCACTCCTCCTGAGAGA	0.438																																						uc010ydi.1		NaN																	0					0						c.(58-60)GAG>GAA		zinc finger protein 836							101.0	107.0	105.0					19																	52663800		2203	4300	6503	SO:0001819	synonymous_variant	162962				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52663800C>T	BC011784	CCDS46162.1	19q13.33	2013-01-08			ENSG00000196267	ENSG00000196267		"""Zinc fingers, C2H2-type"", ""-"""	34333	protein-coding gene	gene with protein product							Standard	NM_001102657		Approved	FLJ16287	uc010ydj.2	Q6ZNA1		ENST00000322146.8:c.60G>A	19.37:g.52663800C>T						ZNF836_uc010ydj.1_Silent_p.E20E	p.E20E	NM_001102657	NP_001096127	Q6ZNA1	ZN836_HUMAN			4	434	-			20			KRAB.			Silent	SNP	ENST00000322146.8	37	c.60G>A	CCDS46162.1																																																																																				0.438	ZNF836-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462456.1		NM_001102657		55	195	0	0	0	1	0	55	195		
ZNF534	147658	broad.mit.edu	37	19	52942411	52942411	+	Silent	SNP	G	G	A	rs113700997	byFrequency	TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:52942411G>A	ENST00000332323.6	+	4	1798	c.1737G>A	c.(1735-1737)gcG>gcA	p.A579A	ZNF534_ENST00000301085.4_Intron|ZNF534_ENST00000433050.1_Silent_p.A566A|ZNF534_ENST00000432303.2_Intron	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN	zinc finger protein 534	579					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)	p.A579A(4)		central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						CACACCTTGCGCGACATAGGA	0.443																																						uc002pzk.2		NaN																	4	Substitution - coding silent(4)		kidney(4)		0						c.(1735-1737)GCG>GCA		zinc finger protein 534 isoform 2							63.0	62.0	62.0					19																	52942411		692	1591	2283	SO:0001819	synonymous_variant	147658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52942411G>A	AK058073	CCDS46165.1, CCDS46166.1	19q13.41	2013-01-08	2004-02-06	2004-02-11	ENSG00000198633	ENSG00000198633		"""Zinc fingers, C2H2-type"", ""-"""	26337	protein-coding gene	gene with protein product			"""KRAB domain only 3"""	KRBO3			Standard	NM_001143938		Approved	FLJ25344	uc002pzk.3	Q76KX8	OTTHUMG00000156493	ENST00000332323.6:c.1737G>A	19.37:g.52942411G>A						ZNF534_uc002pzj.1_Intron|ZNF534_uc010epo.1_Intron|ZNF534_uc002pzl.2_Silent_p.A566A	p.A579A	NM_001143939	NP_001137411	Q76KX8	ZN534_HUMAN			4	1798	+			579			C2H2-type 14.		Q76KX9	Silent	SNP	ENST00000332323.6	37	c.1737G>A	CCDS46165.1																																																																																				0.443	ZNF534-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460877.1		NM_182512		4	23	0	0	0	1	0	4	23		
ZNF816	125893	broad.mit.edu	37	19	53456059	53456059	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:53456059C>G	ENST00000357666.4	-	4	435	c.135G>C	c.(133-135)caG>caC	p.Q45H	ZNF816_ENST00000444460.2_Missense_Mutation_p.Q45H|ZNF816_ENST00000434371.2_Missense_Mutation_p.Q45H|ZNF816_ENST00000270457.4_Missense_Mutation_p.Q45H|ZNF816_ENST00000438970.2_Missense_Mutation_p.Q45H|ZNF321P_ENST00000391777.3_Missense_Mutation_p.Q45H|ZNF816_ENST00000535506.1_Missense_Mutation_p.Q45H|ZNF816_ENST00000391786.2_Missense_Mutation_p.E40Q	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	45	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						ATAAAGCCCTCTGTGCAGGGT	0.458																																						uc002qal.1		NaN																	0					0						c.(133-135)CAG>CAC		zinc finger protein 816A							101.0	109.0	106.0					19																	53456059		2203	4300	6503	SO:0001583	missense	125893				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53456059C>G	BC063805	CCDS33096.1	19q13.41	2013-01-08	2010-07-23	2010-07-23		ENSG00000180257		"""Zinc fingers, C2H2-type"", ""-"""	26995	protein-coding gene	gene with protein product			"""zinc finger protein 816A"""	ZNF816A			Standard	NM_001031665		Approved		uc002qam.2	Q0VGE8		ENST00000357666.4:c.135G>C	19.37:g.53456059C>G	ENSP00000350295:p.Gln45His					ZNF321_uc010eqj.2_Missense_Mutation_p.Q29H|ZNF321_uc002qak.1_Missense_Mutation_p.Q29H|ZNF816A_uc002qam.1_Missense_Mutation_p.Q29H	p.Q45H	NM_001031665	NP_001026835	Q0VGE8	ZN816_HUMAN		GBM - Glioblastoma multiforme(134;0.0313)	4	436	-			45			KRAB.		A8K7H5|Q3KR39|Q659B3	Missense_Mutation	SNP	ENST00000357666.4	37	c.135G>C	CCDS33096.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	7.583|7.583	0.669216|0.669216	0.14776|0.14776	.|.	.|.	ENSG00000180257|ENSG00000180257;ENSG00000180257;ENSG00000180257;ENSG00000180257;ENSG00000221874	ENST00000332302|ENST00000434371;ENST00000357666;ENST00000444460;ENST00000457013;ENST00000391777	.|T;T;T;T;T	.|0.09445	.|2.98;2.98;2.98;2.98;2.98	1.84|1.84	0.767|0.767	0.18482|0.18482	.|Krueppel-associated box (4);	.|.	.|.	.|.	.|.	T|T	0.41811|0.41811	0.1175|0.1175	H|H	0.98370|0.98370	4.215|4.215	0.09310|0.09310	N|N	1|1	.|D	.|0.69078	.|0.997	.|D	.|0.85130	.|0.997	T|T	0.27123|0.27123	-1.0083|-1.0083	6|9	0.32370|0.66056	T|D	0.25|0.02	.|.	2.3518|2.3518	0.04285|0.04285	0.0:0.3815:0.3044:0.3141|0.0:0.3815:0.3044:0.3141	.|.	.|45	.|Q0VGE8	.|ZN816_HUMAN	Q|H	81|45	.|ENSP00000438519:Q45H;ENSP00000350295:Q45H;ENSP00000403266:Q45H;ENSP00000408965:Q45H;ENSP00000375656:Q45H	ENSP00000333199:E81Q|ENSP00000375656:Q45H	E|Q	-|-	1|3	0|2	ZNF816|ZNF321P;ZNF816	58147871|58147871	0.299000|0.299000	0.24426|0.24426	0.016000|0.016000	0.15963|0.15963	0.045000|0.045000	0.14185|0.14185	0.397000|0.397000	0.20883|0.20883	1.000000|1.000000	0.39049|0.39049	0.305000|0.305000	0.20034|0.20034	GAG|CAG		0.458	ZNF816-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396132.1		NM_001031665		85	223	0	0	0	1	0	85	223		
ZNF665	79788	broad.mit.edu	37	19	53668107	53668107	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:53668107C>T	ENST00000600412.1	-	2	1556	c.1441G>A	c.(1441-1443)Gat>Aat	p.D481N	ZNF665_ENST00000396424.3_Missense_Mutation_p.D546N|CTD-2245F17.2_ENST00000600257.1_RNA			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	481					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)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		TTGCCGCAATCATTACATTTG	0.388																																						uc010eqm.1		NaN																	0				ovary(2)	2						c.(1636-1638)GAT>AAT		zinc finger protein 665							149.0	160.0	156.0					19																	53668107		2200	4300	6500	SO:0001583	missense	79788				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53668107C>T		CCDS46169.1	19q13.42	2013-01-08				ENSG00000197497		"""Zinc fingers, C2H2-type"", ""-"""	25885	protein-coding gene	gene with protein product							Standard	NM_024733		Approved	FLJ14345	uc010eqm.1	Q9H7R5		ENST00000600412.1:c.1441G>A	19.37:g.53668107C>T	ENSP00000469154:p.Asp481Asn						p.D546N	NM_024733	NP_079009	Q9H7R5	ZN665_HUMAN		GBM - Glioblastoma multiforme(134;0.0196)	4	1736	-			481			C2H2-type 14.		A8K5T8	Missense_Mutation	SNP	ENST00000600412.1	37	c.1636G>A		.	.	.	.	.	.	.	.	.	.	C	10.30	1.311383	0.23821	.	.	ENSG00000197497	ENST00000396424	T	0.07327	3.2	2.12	-0.574	0.11738	.	.	.	.	.	T	0.06462	0.0166	L	0.35487	1.065	0.09310	N	1	B	0.31730	0.337	B	0.31614	0.133	T	0.36383	-0.9750	9	0.87932	D	0	.	6.0285	0.19667	0.0:0.6718:0.1927:0.1356	.	546	Q9H7R5-2	.	N	546	ENSP00000379702:D546N	ENSP00000379702:D546N	D	-	1	0	ZNF665	58359919	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.620000	0.05565	0.222000	0.20900	0.411000	0.27672	GAT		0.388	ZNF665-002	PUTATIVE	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000464179.1		NM_024733		175	81	0	0	0	1	0	175	81		
ZNF761	388561	broad.mit.edu	37	19	53958226	53958226	+	RNA	SNP	G	G	C	rs367989673		TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:53958226G>C	ENST00000454407.1	+	0	918							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		ACATATTTCAGACCGAAGAGA	0.388																																						uc010eqp.2		NaN																	0				ovary(1)	1						c.(463-465)CAG>CAC		zinc finger protein 761							104.0	105.0	105.0					19																	53958226		2203	4300	6503			388561				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53958226G>C	AB107355		19q13.42	2007-10-05	2006-08-11	2006-08-11	ENSG00000160336	ENSG00000160336		"""Zinc fingers, C2H2-type"""	23179	protein-coding gene	gene with protein product							Standard	NM_001008401		Approved	KIAA2033, FLJ16231, FLJ35333	uc010eqp.3	Q86XN6	OTTHUMG00000156999		19.37:g.53958226G>C						ZNF761_uc010ydy.1_Missense_Mutation_p.Q101H|ZNF761_uc002qbt.1_Missense_Mutation_p.Q101H	p.Q155H	NM_001008401	NP_001008401	Q86XN6	ZN761_HUMAN		GBM - Glioblastoma multiforme(134;0.00786)	7	923	+			155					Q6ZNB9	Missense_Mutation	SNP	ENST00000454407.1	37	c.465G>C																																																																																					0.388	ZNF761-203	KNOWN	basic	processed_transcript	processed_transcript			NM_001008401		79	210	0	0	0	1	0	79	210		
CACNG7	59284	broad.mit.edu	37	19	54444867	54444867	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:54444867G>C	ENST00000391767.1	+	5	780	c.568G>C	c.(568-570)Gag>Cag	p.E190Q	CACNG7_ENST00000222212.2_Missense_Mutation_p.E190Q|CACNG7_ENST00000391766.1_Missense_Mutation_p.E190Q			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7	190					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		CCTACTCAAAGAGGTGACGTC	0.552																																						uc002qcr.1		NaN																	0				ovary(1)	1						c.(568-570)GAG>CAG		voltage-dependent calcium channel gamma-7							127.0	115.0	119.0					19																	54444867		2203	4300	6503	SO:0001583	missense	59284				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr19:54444867G>C	AF288387	CCDS12868.1	19q13.4	2008-05-02			ENSG00000105605	ENSG00000105605		"""Calcium channel subunits"""	13626	protein-coding gene	gene with protein product		606899				11170751	Standard	NM_031896		Approved		uc002qcr.2	P62955	OTTHUMG00000064852	ENST00000391767.1:c.568G>C	19.37:g.54444867G>C	ENSP00000375647:p.Glu190Gln					CACNG7_uc010era.1_Missense_Mutation_p.E190Q	p.E190Q	NM_031896	NP_114102	P62955	CCG7_HUMAN		GBM - Glioblastoma multiforme(134;0.0711)	4	583	+	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)		190			Helical; (Potential).		Q52LL8|Q8VBX3|Q8WXS6|Q9BXT1	Missense_Mutation	SNP	ENST00000391767.1	37	c.568G>C	CCDS12868.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.563539	0.86335	.	.	ENSG00000105605	ENST00000391767;ENST00000222212;ENST00000391766	D;D;D	0.89196	-2.48;-2.48;-2.48	4.66	4.66	0.58398	.	0.000000	0.85682	D	0.000000	D	0.93746	0.8001	M	0.77313	2.365	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92691	0.6166	10	0.31617	T	0.26	-17.3119	15.4355	0.75143	0.0:0.0:1.0:0.0	.	190	P62955	CCG7_HUMAN	Q	190	ENSP00000375647:E190Q;ENSP00000222212:E190Q;ENSP00000375646:E190Q	ENSP00000222212:E190Q	E	+	1	0	CACNG7	59136679	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	9.184000	0.94893	2.323000	0.78572	0.462000	0.41574	GAG		0.552	CACNG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139240.2				13	182	0	0	0	1	0	13	182		
TTYH1	57348	broad.mit.edu	37	19	54937898	54937898	+	Silent	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:54937898C>G	ENST00000376530.3	+	5	790	c.687C>G	c.(685-687)ctC>ctG	p.L229L	TTYH1_ENST00000391739.3_Silent_p.L278L|TTYH1_ENST00000489425.1_3'UTR|TTYH1_ENST00000376531.3_Silent_p.L229L|TTYH1_ENST00000301194.4_Silent_p.L229L	NM_001201461.1|NM_020659.3	NP_001188390.1|NP_065710.1	Q9H313	TTYH1_HUMAN	tweety family member 1	229					cell-substrate adhesion (GO:0031589)|chloride transport (GO:0006821)|filopodium assembly (GO:0046847)|ion transmembrane transport (GO:0034220)|iron ion transmembrane transport (GO:0034755)|iron ion transport (GO:0006826)|mitotic nuclear division (GO:0007067)|regulation of anion transport (GO:0044070)|single organismal cell-cell adhesion (GO:0016337)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|filopodium membrane (GO:0031527)|filopodium tip (GO:0032433)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum membrane (GO:0030868)	calcium ion binding (GO:0005509)|iron ion transmembrane transporter activity (GO:0005381)|volume-sensitive chloride channel activity (GO:0072320)			endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0767)		TGGTCTGCCTCTTCACCCTCC	0.647																																						uc002qfq.2		NaN																	0					0						c.(685-687)CTC>CTG		tweety 1 isoform 1							97.0	77.0	84.0					19																	54937898		2203	4300	6503	SO:0001819	synonymous_variant	57348				cell adhesion	chloride channel complex|plasma membrane	chloride channel activity|iron ion transmembrane transporter activity	g.chr19:54937898C>G	AF177909	CCDS12893.1, CCDS33106.1, CCDS56102.1	19q13.4	2013-09-02	2013-09-02		ENSG00000167614	ENSG00000167614			13476	protein-coding gene	gene with protein product		605784	"""tweety (Drosophila) homolog 1"", ""tweety homolog 1 (Drosophila)"""			10950931	Standard	NM_020659		Approved		uc002qfr.3	Q9H313	OTTHUMG00000065544	ENST00000376530.3:c.687C>G	19.37:g.54937898C>G						TTYH1_uc010yey.1_Silent_p.L278L|TTYH1_uc002qfr.2_Silent_p.L229L|TTYH1_uc002qft.2_Silent_p.L229L|TTYH1_uc002qfu.1_Silent_p.L141L	p.L229L	NM_020659	NP_065710	Q9H313	TTYH1_HUMAN		GBM - Glioblastoma multiforme(193;0.0767)	5	779	+	Ovarian(34;0.19)		229			Helical; Name=3; (Potential).		B0VJY3|B0VJY4|B0VJY5|B2VAL9|Q5U682|Q68A17|Q6L750|Q6ZTE5|Q8WUU2	Silent	SNP	ENST00000376530.3	37	c.687C>G	CCDS12893.1																																																																																				0.647	TTYH1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140498.1				15	102	0	0	0	1	0	15	102		
NLRP7	199713	broad.mit.edu	37	19	55435133	55435133	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:55435133G>T	ENST00000590030.1	-	9	2958	c.2918C>A	c.(2917-2919)cCt>cAt	p.P973H	NLRP7_ENST00000340844.2_Missense_Mutation_p.P973H|NLRP7_ENST00000328092.5_Missense_Mutation_p.P1002H|NLRP7_ENST00000588756.1_Missense_Mutation_p.P1030H|NLRP7_ENST00000448121.2_Missense_Mutation_p.P1002H|NLRP7_ENST00000592784.1_Missense_Mutation_p.P1030H|NLRP7_ENST00000446217.1_Missense_Mutation_p.P1058H			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	973							ATP binding (GO:0005524)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		ACAGCACGGAGGTGCCGTTGC	0.463																																						uc002qih.3		NaN																	0				large_intestine(1)|breast(1)|central_nervous_system(1)	3						c.(2917-2919)CCT>CAT		NACHT, leucine rich repeat and PYD containing 7							121.0	120.0	121.0					19																	55435133		2203	4300	6503	SO:0001583	missense	199713						ATP binding	g.chr19:55435133G>T	AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"""Nucleotide-binding domain and leucine rich repeat containing"""	22947	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"""	609661	"""NACHT, leucine rich repeat and PYD containing 7"""	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.2918C>A	19.37:g.55435133G>T	ENSP00000465520:p.Pro973His					NLRP7_uc002qig.3_Missense_Mutation_p.P1002H|NLRP7_uc002qii.3_Missense_Mutation_p.P1030H|NLRP7_uc010esk.2_3'UTR|NLRP7_uc010esl.2_Missense_Mutation_p.P1058H	p.P973H	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	10	2994	-			973					E9PE16|Q32MH8|Q7RTR1	Missense_Mutation	SNP	ENST00000590030.1	37	c.2918C>A	CCDS33109.1	.	.	.	.	.	.	.	.	.	.	G	10.78	1.447231	0.25987	.	.	ENSG00000167634	ENST00000328092;ENST00000448121;ENST00000340844;ENST00000446217	T;T;T	0.74421	-0.79;-0.77;-0.84	1.93	0.872	0.19113	.	.	.	.	.	T	0.69160	0.3080	L	0.34521	1.04	0.09310	N	1	D;P;D	0.69078	0.976;0.65;0.997	P;B;P	0.54460	0.648;0.135;0.753	T	0.58025	-0.7709	9	0.62326	D	0.03	.	4.5733	0.12221	0.1917:0.0:0.8083:0.0	.	1058;973;1002	E7EPM2;Q8WX94;Q8WX94-2	.;NALP7_HUMAN;.	H	1030;1002;973;1058	ENSP00000409137:P1002H;ENSP00000339491:P973H;ENSP00000414273:P1058H	ENSP00000329568:P1030H	P	-	2	0	NLRP7	60126945	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.915000	0.28638	0.394000	0.25230	-0.156000	0.13503	CCT		0.463	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1		NM_139176		42	82	1	0	2.24893e-16	1	2.48066e-16	42	82		
RDH13	112724	broad.mit.edu	37	19	55556446	55556446	+	Missense_Mutation	SNP	C	C	G	rs372836920		TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:55556446C>G	ENST00000415061.3	-	7	1135	c.992G>C	c.(991-993)aGa>aCa	p.R331T	CTC-550B14.7_ENST00000586845.1_RNA|CTC-550B14.6_ENST00000585492.1_RNA|CTC-550B14.7_ENST00000586961.1_RNA|RDH13_ENST00000396247.3_Missense_Mutation_p.R260T|CTC-550B14.7_ENST00000593060.1_RNA|RDH13_ENST00000592423.1_5'Flank	NM_001145971.1	NP_001139443.1	Q8NBN7	RDH13_HUMAN	retinol dehydrogenase 13 (all-trans/9-cis)	331					eye photoreceptor cell development (GO:0042462)|response to high light intensity (GO:0009644)|retina layer formation (GO:0010842)	mitochondrion (GO:0005739)	oxidoreductase activity (GO:0016491)			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.199)	GBM - Glioblastoma multiforme(193;0.0504)	Vitamin A(DB00162)	CAGAGGTTATCTGGGGAGGGG	0.647																																						uc002qio.3		NaN																	0				large_intestine(1)|ovary(1)|skin(1)	3						c.(991-993)AGA>ACA		retinol dehydrogenase 13 isoform 1	Vitamin A(DB00162)	C	THR/ARG,THR/ARG	1,3793		0,1,1896	20.0	23.0	22.0		992,779	0.3	0.0	19		22	0,8214		0,0,4107	no	missense,missense	RDH13	NM_001145971.1,NM_138412.3	71,71	0,1,6003	GG,GC,CC		0.0,0.0264,0.0083	benign,benign	331/332,260/261	55556446	1,12007	1897	4107	6004	SO:0001583	missense	112724						binding|oxidoreductase activity	g.chr19:55556446C>G		CCDS42627.1, CCDS54320.1	19q13.42	2011-09-14	2006-05-09			ENSG00000160439	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	19978	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 7C, member 3"""		"""retinol dehydrogenase 13 (all-trans and 9-cis)"""			12226107, 19027726	Standard	NM_138412		Approved	SDR7C3	uc002qio.3	Q8NBN7		ENST00000415061.3:c.992G>C	19.37:g.55556446C>G	ENSP00000391121:p.Arg331Thr					RDH13_uc002qip.2_Missense_Mutation_p.R260T|RDH13_uc010esr.1_RNA	p.R331T	NM_001145971	NP_001139443	Q8NBN7	RDH13_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.199)	GBM - Glioblastoma multiforme(193;0.0504)	7	1177	-			331					Q6UX79|Q96G88	Missense_Mutation	SNP	ENST00000415061.3	37	c.992G>C	CCDS54320.1	.	.	.	.	.	.	.	.	.	.	C	11.27	1.589793	0.28357	2.64E-4	0.0	ENSG00000160439	ENST00000415061;ENST00000396247	D;D	0.83419	-1.72;-1.68	4.08	0.33	0.15929	.	3.227270	0.00926	N	0.002650	T	0.67590	0.2909	N	0.08118	0	0.09310	N	1	B	0.16166	0.016	B	0.14023	0.01	T	0.58171	-0.7683	10	0.72032	D	0.01	.	3.2355	0.06763	0.0:0.2621:0.2179:0.52	.	331	Q8NBN7	RDH13_HUMAN	T	331;260	ENSP00000391121:R331T;ENSP00000379547:R260T	ENSP00000379547:R260T	R	-	2	0	RDH13	60248258	0.000000	0.05858	0.001000	0.08648	0.191000	0.23601	0.173000	0.16724	0.021000	0.15133	0.313000	0.20887	AGA		0.647	RDH13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451470.1		NM_138412		15	53	0	0	0	1	0	15	53		
ZNF787	126208	broad.mit.edu	37	19	56600188	56600188	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:56600188C>G	ENST00000270459.3	-	3	471	c.353G>C	c.(352-354)gGc>gCc	p.G118A		NM_001002836.2	NP_001002836	Q6DD87	ZN787_HUMAN	zinc finger protein 787	118					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1)	5		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0559)		GGGCTTCTCGCCCGTGTGGAT	0.682																																						uc010eth.1		NaN																	0				pancreas(1)	1						c.(352-354)GGC>GCC		zinc finger protein 787							22.0	24.0	23.0					19																	56600188		2203	4298	6501	SO:0001583	missense	126208				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56600188C>G	BC077728, AF000560	CCDS42634.1	19q13.42	2013-01-08				ENSG00000142409		"""Zinc fingers, C2H2-type"""	26998	protein-coding gene	gene with protein product							Standard	NM_001002836		Approved		uc010eth.1	Q6DD87		ENST00000270459.3:c.353G>C	19.37:g.56600188C>G	ENSP00000270459:p.Gly118Ala						p.G118A	NM_001002836	NP_001002836	Q6DD87	ZN787_HUMAN		GBM - Glioblastoma multiforme(193;0.0559)	3	472	-		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	118					O00455	Missense_Mutation	SNP	ENST00000270459.3	37	c.353G>C	CCDS42634.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.178219	0.78564	.	.	ENSG00000142409	ENST00000270459	T	0.26373	1.74	3.46	3.46	0.39613	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.41488	0.1161	L	0.41961	1.31	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.36335	-0.9752	9	0.87932	D	0	-25.4038	12.7958	0.57558	0.0:1.0:0.0:0.0	.	118	Q6DD87	ZN787_HUMAN	A	118	ENSP00000270459:G118A	ENSP00000270459:G118A	G	-	2	0	ZNF787	61292000	0.002000	0.14202	1.000000	0.80357	0.940000	0.58332	0.857000	0.27831	1.932000	0.55993	0.462000	0.41574	GGC		0.682	ZNF787-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457498.1		NM_001002836		10	12	0	0	0	1	0	10	12		
ZNF543	125919	broad.mit.edu	37	19	57835137	57835137	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:57835137G>C	ENST00000321545.4	+	2	451	c.106G>C	c.(106-108)Gag>Cag	p.E36Q		NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN	zinc finger protein 543	36	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CTTGTATCAGGAGGTGATGCT	0.527																																						uc002qoi.1		NaN																	0				skin(1)|pancreas(1)	2						c.(106-108)GAG>CAG		zinc finger protein 543							196.0	160.0	172.0					19																	57835137		2203	4300	6503	SO:0001583	missense	125919				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57835137G>C	AL834534	CCDS33130.1	19q13.43	2013-01-08				ENSG00000178229		"""Zinc fingers, C2H2-type"", ""-"""	25281	protein-coding gene	gene with protein product							Standard	NM_213598		Approved	DKFZp434H055	uc002qoi.2	Q08ER8		ENST00000321545.4:c.106G>C	19.37:g.57835137G>C	ENSP00000322545:p.Glu36Gln						p.E36Q	NM_213598	NP_998763	Q08ER8	ZN543_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	2	451	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	36			KRAB.		Q495U9|Q495V0|Q6ZMP4|Q8NCX4	Missense_Mutation	SNP	ENST00000321545.4	37	c.106G>C	CCDS33130.1	.	.	.	.	.	.	.	.	.	.	G	11.74	1.730145	0.30684	.	.	ENSG00000178229	ENST00000321545	T	0.01998	4.51	1.51	1.51	0.23008	Krueppel-associated box (4);	.	.	.	.	T	0.10852	0.0265	M	0.83603	2.65	0.21802	N	0.99954	D	0.76494	0.999	D	0.68943	0.961	T	0.04216	-1.0968	9	0.72032	D	0.01	.	8.5765	0.33601	0.0:0.0:1.0:0.0	.	36	Q08ER8	ZN543_HUMAN	Q	36	ENSP00000322545:E36Q	ENSP00000322545:E36Q	E	+	1	0	ZNF543	62526949	0.942000	0.31987	0.684000	0.30055	0.224000	0.24922	1.389000	0.34453	1.129000	0.42072	0.467000	0.42956	GAG		0.527	ZNF543-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465780.1		XM_064865		26	66	0	0	0	1	0	26	66		
ZNF550	162972	broad.mit.edu	37	19	58058594	58058594	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:58058594C>T	ENST00000457177.1	-	4	1198	c.1018G>A	c.(1018-1020)Gag>Aag	p.E340K	ZNF549_ENST00000594943.1_Intron|ZNF549_ENST00000602149.1_Intron|ZNF550_ENST00000601415.1_Intron|ZNF550_ENST00000325134.5_Missense_Mutation_p.E308K|ZNF550_ENST00000506609.2_Missense_Mutation_p.E299K			Q7Z398	ZN550_HUMAN	zinc finger protein 550	340					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	7		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TAGGGCTTCTCTCCAGTGTGG	0.478																																						uc002qpe.1		NaN																	0					0						c.(895-897)GAG>AAG		zinc finger protein 550							107.0	102.0	104.0					19																	58058594		2203	4300	6503	SO:0001583	missense	162972				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58058594C>T	AL833214	CCDS35500.1, CCDS35500.2	19q13.43	2013-05-22			ENSG00000251369	ENSG00000251369		"""Zinc fingers, C2H2-type"""	28643	protein-coding gene	gene with protein product						12477932	Standard	NM_001277090		Approved	MGC41917	uc002qpd.4	Q7Z398	OTTHUMG00000133709	ENST00000457177.1:c.1018G>A	19.37:g.58058594C>T	ENSP00000469679:p.Glu340Lys					ZNF547_uc002qpm.3_Intron|ZNF549_uc010eud.1_Intron|ZNF550_uc002qpc.2_RNA|ZNF550_uc010eue.1_RNA|ZNF550_uc002qpd.2_RNA	p.E299K	NM_001039654	NP_001034743	Q7Z398	ZN550_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	2	895	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	340					B3KVF6|O43337|Q7Z6D7|Q8NE45	Missense_Mutation	SNP	ENST00000457177.1	37	c.895G>A		.	.	.	.	.	.	.	.	.	.	C	17.80	3.478615	0.63849	.	.	ENSG00000251369	ENST00000344222;ENST00000325134;ENST00000506609	T;T	0.24350	1.86;1.86	3.33	2.26	0.28386	.	.	.	.	.	T	0.40247	0.1109	M	0.65975	2.015	0.30553	N	0.765304	D	0.64830	0.994	P	0.56434	0.798	T	0.41197	-0.9522	9	0.59425	D	0.04	-12.4078	10.364	0.44012	0.0:0.7978:0.2022:0.0	.	308	Q7Z398-2	.	K	340;308;299	ENSP00000446224:E308K;ENSP00000422344:E299K	ENSP00000446224:E308K	E	-	1	0	AC003682.1	62750406	0.340000	0.24792	0.166000	0.22797	0.976000	0.68499	1.134000	0.31442	0.715000	0.32103	0.643000	0.83706	GAG		0.478	ZNF550-001	KNOWN	NMD_exception|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000257992.2		NM_153231		12	44	0	0	0	1	0	12	44		
ZNF544	27300	broad.mit.edu	37	19	58772414	58772414	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:58772414G>C	ENST00000596652.1	+	6	676	c.442G>C	c.(442-444)Gag>Cag	p.E148Q	ZNF544_ENST00000595981.1_Intron|ZNF544_ENST00000599953.1_Missense_Mutation_p.E6Q|ZNF544_ENST00000415203.2_Missense_Mutation_p.E120Q|ZNF544_ENST00000600044.1_Missense_Mutation_p.E120Q|CTD-3138B18.5_ENST00000597230.1_RNA|ZNF544_ENST00000600220.1_Missense_Mutation_p.E120Q|ZNF544_ENST00000596929.1_Intron|CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000599227.1_3'UTR|ZNF544_ENST00000269829.4_Missense_Mutation_p.E148Q|ZNF544_ENST00000596825.1_3'UTR			Q6NX49	ZN544_HUMAN	zinc finger protein 544	148					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)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		ACTCACCTCAGAGAGACTGTT	0.458																																						uc010euo.2		NaN																	0				pancreas(1)	1						c.(442-444)GAG>CAG		zinc finger protein 544							99.0	88.0	92.0					19																	58772414		2203	4300	6503	SO:0001583	missense	27300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58772414G>C	AF020591	CCDS12973.1	19q13.43	2013-01-08				ENSG00000198131		"""Zinc fingers, C2H2-type"", ""-"""	16759	protein-coding gene	gene with protein product	"""zinc finger protein AF020591"""						Standard	NM_014480		Approved	AF020591	uc010euo.3	Q6NX49		ENST00000596652.1:c.442G>C	19.37:g.58772414G>C	ENSP00000469635:p.Glu148Gln					ZNF544_uc010yhw.1_Intron|ZNF544_uc010yhx.1_Missense_Mutation_p.E120Q|ZNF544_uc010yhy.1_Missense_Mutation_p.E120Q|ZNF544_uc002qrt.3_Missense_Mutation_p.E6Q|ZNF544_uc002qru.3_Missense_Mutation_p.E6Q|uc002qrx.1_Intron	p.E148Q	NM_014480	NP_055295	Q6NX49	ZN544_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)	7	916	+		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)	148					A8K6J1|Q9UEX4	Missense_Mutation	SNP	ENST00000596652.1	37	c.442G>C	CCDS12973.1	.	.	.	.	.	.	.	.	.	.	G	7.077	0.569460	0.13560	.	.	ENSG00000198131	ENST00000269829;ENST00000415203	T;T	0.08458	3.17;3.09	3.12	-0.228	0.13098	.	.	.	.	.	T	0.06735	0.0172	L	0.32530	0.975	0.20563	N	0.999885	D;B;B	0.54207	0.965;0.003;0.011	P;B;B	0.45449	0.481;0.0;0.018	T	0.37033	-0.9723	9	0.25751	T	0.34	.	5.1724	0.15118	0.4226:0.0:0.5774:0.0	.	120;120;148	B7ZAY1;B4DL50;Q6NX49	.;.;ZN544_HUMAN	Q	148;120	ENSP00000269829:E148Q;ENSP00000394341:E120Q	ENSP00000269829:E148Q	E	+	1	0	ZNF544	63464226	0.000000	0.05858	0.005000	0.12908	0.019000	0.09904	-0.300000	0.08243	0.182000	0.20032	-0.137000	0.14449	GAG		0.458	ZNF544-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466754.1		NM_014480		28	39	0	0	0	1	0	28	39		
ZNF544	27300	broad.mit.edu	37	19	58772614	58772614	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:58772614G>C	ENST00000596652.1	+	6	876	c.642G>C	c.(640-642)gaG>gaC	p.E214D	ZNF544_ENST00000595981.1_Intron|ZNF544_ENST00000599953.1_Missense_Mutation_p.E72D|ZNF544_ENST00000415203.2_Missense_Mutation_p.E186D|ZNF544_ENST00000600044.1_Missense_Mutation_p.E186D|CTD-3138B18.5_ENST00000597230.1_RNA|ZNF544_ENST00000600220.1_Missense_Mutation_p.E186D|ZNF544_ENST00000596929.1_Intron|CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000599227.1_3'UTR|ZNF544_ENST00000269829.4_Missense_Mutation_p.E214D|ZNF544_ENST00000596825.1_3'UTR			Q6NX49	ZN544_HUMAN	zinc finger protein 544	214					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)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		AGCACTGTGAGAGTCATCAGT	0.378																																						uc010euo.2		NaN																	0				pancreas(1)	1						c.(640-642)GAG>GAC		zinc finger protein 544							63.0	63.0	63.0					19																	58772614		2203	4300	6503	SO:0001583	missense	27300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58772614G>C	AF020591	CCDS12973.1	19q13.43	2013-01-08				ENSG00000198131		"""Zinc fingers, C2H2-type"", ""-"""	16759	protein-coding gene	gene with protein product	"""zinc finger protein AF020591"""						Standard	NM_014480		Approved	AF020591	uc010euo.3	Q6NX49		ENST00000596652.1:c.642G>C	19.37:g.58772614G>C	ENSP00000469635:p.Glu214Asp					ZNF544_uc010yhw.1_Intron|ZNF544_uc010yhx.1_Missense_Mutation_p.E186D|ZNF544_uc010yhy.1_Missense_Mutation_p.E186D|ZNF544_uc002qrt.3_Missense_Mutation_p.E72D|ZNF544_uc002qru.3_Missense_Mutation_p.E72D|uc002qrx.1_Intron	p.E214D	NM_014480	NP_055295	Q6NX49	ZN544_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)	7	1116	+		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)	214					A8K6J1|Q9UEX4	Missense_Mutation	SNP	ENST00000596652.1	37	c.642G>C	CCDS12973.1	.	.	.	.	.	.	.	.	.	.	G	11.40	1.627120	0.28978	.	.	ENSG00000198131	ENST00000269829;ENST00000415203	T;T	0.07800	3.16;3.22	3.7	-0.147	0.13428	.	.	.	.	.	T	0.14013	0.0339	M	0.64170	1.965	0.09310	N	1	D;B;B	0.61697	0.99;0.249;0.189	P;B;B	0.57204	0.815;0.119;0.082	T	0.19031	-1.0318	9	0.54805	T	0.06	.	0.4087	0.00437	0.4014:0.1855:0.2325:0.1806	.	186;186;214	B7ZAY1;B4DL50;Q6NX49	.;.;ZN544_HUMAN	D	214;186	ENSP00000269829:E214D;ENSP00000394341:E186D	ENSP00000269829:E214D	E	+	3	2	ZNF544	63464426	0.018000	0.18449	0.113000	0.21522	0.060000	0.15804	0.760000	0.26475	0.149000	0.19098	-0.290000	0.09829	GAG		0.378	ZNF544-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466754.1		NM_014480		22	51	0	0	0	1	0	22	51		
KIDINS220	57498	broad.mit.edu	37	2	8933973	8933973	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:8933973G>A	ENST00000256707.3	-	12	1424	c.1243C>T	c.(1243-1245)Cag>Tag	p.Q415*	KIDINS220_ENST00000427284.1_Nonsense_Mutation_p.Q415*|KIDINS220_ENST00000319688.5_Nonsense_Mutation_p.Q416*|KIDINS220_ENST00000473731.1_Nonsense_Mutation_p.Q415*|KIDINS220_ENST00000418530.1_Nonsense_Mutation_p.Q373*	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	415					activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					ATACTCTTCTGATGGCTACAG	0.358																																						uc002qzc.2		NaN																	0				ovary(3)|central_nervous_system(1)	4						c.(1243-1245)CAG>TAG		kinase D-interacting substrate of 220 kDa							63.0	58.0	59.0					2																	8933973		1813	4075	5888	SO:0001587	stop_gained	57498				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane		g.chr2:8933973G>A	AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"""Ankyrin repeat domain containing"""	29508	protein-coding gene	gene with protein product	"""ankyrin repeat-rich membrane-spanning protein"""	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.1243C>T	2.37:g.8933973G>A	ENSP00000256707:p.Gln415*					KIDINS220_uc010yiv.1_Nonsense_Mutation_p.Q181*|KIDINS220_uc002qzd.2_Nonsense_Mutation_p.Q373*|KIDINS220_uc010yiw.1_Nonsense_Mutation_p.Q416*	p.Q415*	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN			12	1425	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		415			Cytoplasmic (Potential).		A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Nonsense_Mutation	SNP	ENST00000256707.3	37	c.1243C>T	CCDS42650.1	.	.	.	.	.	.	.	.	.	.	g	37	6.378198	0.97520	.	.	ENSG00000134313	ENST00000496383;ENST00000541927;ENST00000256707;ENST00000427284;ENST00000418530;ENST00000473731;ENST00000489024;ENST00000319688	.	.	.	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	20.2272	0.98342	0.0:0.0:1.0:0.0	.	.	.	.	X	162;99;415;415;373;415;416;416	.	ENSP00000256707:Q415X	Q	-	1	0	KIDINS220	8851424	1.000000	0.71417	1.000000	0.80357	0.135000	0.20990	9.400000	0.97290	2.785000	0.95823	0.645000	0.84053	CAG		0.358	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323408.2		NM_020738		7	70	0	0	0	1	0	7	70		
NCOA1	8648	broad.mit.edu	37	2	24952432	24952432	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:24952432C>G	ENST00000406961.1	+	17	3601	c.2949C>G	c.(2947-2949)atC>atG	p.I983M	NCOA1_ENST00000407230.1_Missense_Mutation_p.I832M|NCOA1_ENST00000288599.5_Missense_Mutation_p.I983M|NCOA1_ENST00000348332.3_Missense_Mutation_p.I983M|NCOA1_ENST00000538539.1_Missense_Mutation_p.I983M|NCOA1_ENST00000405141.1_Missense_Mutation_p.I983M|NCOA1_ENST00000395856.3_Missense_Mutation_p.I983M			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	983	Interaction with CREBBP.				androgen receptor signaling pathway (GO:0030521)|cellular lipid metabolic process (GO:0044255)|cellular response to hormone stimulus (GO:0032870)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|estrous cycle phase (GO:0060206)|hippocampus development (GO:0021766)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|labyrinthine layer morphogenesis (GO:0060713)|lactation (GO:0007595)|male gonad development (GO:0008584)|male mating behavior (GO:0060179)|ovulation cycle (GO:0042698)|positive regulation of apoptotic process (GO:0043065)|positive regulation of female receptivity (GO:0045925)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by galactose (GO:0000435)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular response to drug (GO:2001038)|response to estradiol (GO:0032355)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region DNA binding (GO:0001012)|RNA polymerase II transcription coactivator activity (GO:0001105)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)		PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACCTTTGATCATGGAAGAAA	0.428			T	PAX3	alveolar rhadomyosarcoma																																	uc002rfk.2		NaN		Dom	yes		2	2p23	8648	T	nuclear receptor coactivator 1			M	PAX3		alveolar rhadomyosarcoma	PAX3/NCOA1(8)	0				soft_tissue(8)|ovary(1)|lung(1)|skin(1)	11						c.(2947-2949)ATC>ATG		nuclear receptor coactivator 1 isoform 1							162.0	144.0	150.0					2																	24952432		2203	4300	6503	SO:0001583	missense	8648							g.chr2:24952432C>G	U40396	CCDS1712.1, CCDS1713.1, CCDS42660.1	2p23	2011-07-01			ENSG00000084676	ENSG00000084676		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7668	protein-coding gene	gene with protein product		602691				7481822, 9575154	Standard	XM_005264625		Approved	SRC1, F-SRC-1, NCoA-1, KAT13A, RIP160, bHLHe74	uc002rfk.3	Q15788	OTTHUMG00000125523	ENST00000406961.1:c.2949C>G	2.37:g.24952432C>G	ENSP00000385216:p.Ile983Met					NCOA1_uc010eye.2_Missense_Mutation_p.I983M|NCOA1_uc002rfi.2_Missense_Mutation_p.I832M|NCOA1_uc002rfj.2_Missense_Mutation_p.I983M|NCOA1_uc002rfl.2_Missense_Mutation_p.I983M	p.I983M	NM_003743	NP_003734	Q15788	NCOA1_HUMAN			15	3207	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		983			Interaction with CREBBP.		O00150|O43792|O43793|Q13071|Q13420|Q2T9G5|Q53SX3|Q6GVI5|Q7KYV3	Missense_Mutation	SNP	ENST00000406961.1	37	c.2949C>G	CCDS1712.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.801193	0.00075	.	.	ENSG00000084676	ENST00000406961;ENST00000405141;ENST00000407230;ENST00000538539;ENST00000348332;ENST00000288599;ENST00000395856	T;T;T;T;T;T;T	0.38722	1.12;1.12;1.12;1.12;1.12;1.12;1.12	4.98	2.19	0.27852	.	0.370583	0.34411	N	0.003981	T	0.11067	0.0270	N	0.01668	-0.77	0.20196	N	0.999927	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.001;0.0	T	0.32295	-0.9912	10	0.02654	T	1	.	3.6481	0.08192	0.1437:0.1338:0.5843:0.1382	.	983;983;983;832	Q15788-3;Q15788;Q15788-2;B5MCN7	.;NCOA1_HUMAN;.;.	M	983;983;832;983;983;983;983	ENSP00000385216:I983M;ENSP00000385097:I983M;ENSP00000385195:I832M;ENSP00000444039:I983M;ENSP00000320940:I983M;ENSP00000288599:I983M;ENSP00000379197:I983M	ENSP00000288599:I983M	I	+	3	3	NCOA1	24805936	1.000000	0.71417	0.998000	0.56505	0.013000	0.08279	1.573000	0.36472	0.392000	0.25172	-1.177000	0.01723	ATC		0.428	NCOA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246852.3		NM_147223		29	154	0	0	0	1	0	29	154		
NCOA1	8648	broad.mit.edu	37	2	24985619	24985619	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:24985619C>G	ENST00000406961.1	+	22	4781	c.4129C>G	c.(4129-4131)Ctc>Gtc	p.L1377V	NCOA1_ENST00000407230.1_Missense_Mutation_p.L1226V|NCOA1_ENST00000288599.5_Missense_Mutation_p.L1377V|NCOA1_ENST00000348332.3_Missense_Mutation_p.L1377V|NCOA1_ENST00000538539.1_Missense_Mutation_p.L1377V|NCOA1_ENST00000405141.1_Missense_Mutation_p.L1377V|NCOA1_ENST00000395856.3_Missense_Mutation_p.L1377V			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	1377					androgen receptor signaling pathway (GO:0030521)|cellular lipid metabolic process (GO:0044255)|cellular response to hormone stimulus (GO:0032870)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|estrous cycle phase (GO:0060206)|hippocampus development (GO:0021766)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|labyrinthine layer morphogenesis (GO:0060713)|lactation (GO:0007595)|male gonad development (GO:0008584)|male mating behavior (GO:0060179)|ovulation cycle (GO:0042698)|positive regulation of apoptotic process (GO:0043065)|positive regulation of female receptivity (GO:0045925)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by galactose (GO:0000435)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular response to drug (GO:2001038)|response to estradiol (GO:0032355)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region DNA binding (GO:0001012)|RNA polymerase II transcription coactivator activity (GO:0001105)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)		PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACTGACCTTCTCAAAACAGA	0.423			T	PAX3	alveolar rhadomyosarcoma																																	uc002rfk.2		NaN		Dom	yes		2	2p23	8648	T	nuclear receptor coactivator 1			M	PAX3		alveolar rhadomyosarcoma	PAX3/NCOA1(8)	0				soft_tissue(8)|ovary(1)|lung(1)|skin(1)	11						c.(4129-4131)CTC>GTC		nuclear receptor coactivator 1 isoform 1							149.0	158.0	155.0					2																	24985619		2203	4300	6503	SO:0001583	missense	8648							g.chr2:24985619C>G	U40396	CCDS1712.1, CCDS1713.1, CCDS42660.1	2p23	2011-07-01			ENSG00000084676	ENSG00000084676		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7668	protein-coding gene	gene with protein product		602691				7481822, 9575154	Standard	XM_005264625		Approved	SRC1, F-SRC-1, NCoA-1, KAT13A, RIP160, bHLHe74	uc002rfk.3	Q15788	OTTHUMG00000125523	ENST00000406961.1:c.4129C>G	2.37:g.24985619C>G	ENSP00000385216:p.Leu1377Val					NCOA1_uc010eye.2_Missense_Mutation_p.L1377V|NCOA1_uc002rfi.2_Missense_Mutation_p.L1226V|NCOA1_uc002rfj.2_Missense_Mutation_p.L1377V|NCOA1_uc002rfl.2_Missense_Mutation_p.L1377V|NCOA1_uc010eyf.2_Intron	p.L1377V	NM_003743	NP_003734	Q15788	NCOA1_HUMAN			20	4387	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1377					O00150|O43792|O43793|Q13071|Q13420|Q2T9G5|Q53SX3|Q6GVI5|Q7KYV3	Missense_Mutation	SNP	ENST00000406961.1	37	c.4129C>G	CCDS1712.1	.	.	.	.	.	.	.	.	.	.	C	19.35	3.810096	0.70797	.	.	ENSG00000084676	ENST00000406961;ENST00000405141;ENST00000407230;ENST00000538539;ENST00000348332;ENST00000288599;ENST00000395856	T;T;T;T;T;T;T	0.02345	4.55;4.44;4.33;4.44;4.55;4.44;4.6	5.64	5.64	0.86602	.	0.302059	0.32578	N	0.005902	T	0.09291	0.0229	L	0.44542	1.39	0.45676	D	0.998593	D;D;D;D	0.67145	0.996;0.993;0.996;0.993	D;D;D;D	0.75484	0.986;0.967;0.986;0.967	T	0.01287	-1.1395	10	0.54805	T	0.06	.	10.9689	0.47428	0.0:0.887:0.0:0.113	.	1377;1377;1377;1226	Q15788-3;Q15788;Q15788-2;B5MCN7	.;NCOA1_HUMAN;.;.	V	1377;1377;1226;1377;1377;1377;1377	ENSP00000385216:L1377V;ENSP00000385097:L1377V;ENSP00000385195:L1226V;ENSP00000444039:L1377V;ENSP00000320940:L1377V;ENSP00000288599:L1377V;ENSP00000379197:L1377V	ENSP00000288599:L1377V	L	+	1	0	NCOA1	24839123	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.451000	0.44952	2.937000	0.99478	0.650000	0.86243	CTC		0.423	NCOA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246852.3		NM_147223		51	261	0	0	0	1	0	51	261		
GPR113	165082	broad.mit.edu	37	2	26532908	26532908	+	Silent	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:26532908C>G	ENST00000311519.1	-	13	3143	c.3144G>C	c.(3142-3144)gtG>gtC	p.V1048V	GPR113_ENST00000541401.1_Intron|GPR113_ENST00000333478.6_Intron|GPR113_ENST00000459892.1_Intron|GPR113_ENST00000421160.2_Intron	NM_001145168.1	NP_001138640.1	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	1048					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCAGCAACTCACCAGGGAGA	0.572																																						uc002rhe.3		NaN																	0				ovary(4)	4						c.(3142-3144)GTG>GTC		G-protein coupled receptor 113 isoform 1							78.0	77.0	77.0					2																	26532908		2203	4300	6503	SO:0001819	synonymous_variant	165082				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr2:26532908C>G	AB083619	CCDS33159.2, CCDS46238.1, CCDS46239.1	2p24.1	2014-08-08			ENSG00000173567	ENSG00000173567		"""-"", ""GPCR / Class B : Orphans"""	18989	protein-coding gene	gene with protein product						12435584	Standard	NM_153835		Approved	hGPCR37, PGR23	uc002rhe.4	Q8IZF5	OTTHUMG00000150225	ENST00000311519.1:c.3144G>C	2.37:g.26532908C>G						GPR113_uc010yky.1_Intron|GPR113_uc002rhb.1_Intron|GPR113_uc010eyk.1_Intron|GPR113_uc002rhc.1_Intron|GPR113_uc002rhd.1_Intron	p.V1048V	NM_001145168	NP_001138640	Q8IZF5	GP113_HUMAN			13	3144	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1048			Cytoplasmic (Potential).		B4DF15|E9PEV1|Q53TA5|Q6UXT7|Q6UXX3|Q86SL7|Q8IXD8|Q8TDT3	Silent	SNP	ENST00000311519.1	37	c.3144G>C	CCDS46239.1																																																																																				0.572	GPR113-004	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000316892.1		NM_153835		14	76	0	0	0	1	0	14	76		
PRR30	339779	broad.mit.edu	37	2	27360495	27360495	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:27360495G>T	ENST00000335524.3	-	3	1228	c.703C>A	c.(703-705)Cac>Aac	p.H235N	PREB_ENST00000260643.2_5'Flank|PREB_ENST00000416802.1_5'Flank	NM_178553.3	NP_848648.2	Q53SZ7	PRR30_HUMAN		235										cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGCCACAGGTGCTGCAAAAGC	0.687																																						uc002rjb.2		NaN																	0					0						c.(703-705)CAC>AAC		hypothetical protein LOC339779							19.0	23.0	22.0					2																	27360495		2183	4262	6445	SO:0001583	missense	339779							g.chr2:27360495G>T																												ENST00000335524.3:c.703C>A	2.37:g.27360495G>T	ENSP00000335017:p.His235Asn					PREB_uc002rix.1_5'Flank|PREB_uc002riy.1_5'Flank|PREB_uc002riz.1_5'Flank|PREB_uc002rja.1_5'Flank	p.H235N	NM_178553	NP_848648	Q53SZ7	CB053_HUMAN			3	1283	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		235					Q86UE2	Missense_Mutation	SNP	ENST00000335524.3	37	c.703C>A	CCDS1739.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.90|12.90	2.075883|2.075883	0.36662|0.36662	.|.	.|.	ENSG00000186143|ENSG00000186143	ENST00000432962|ENST00000335524	.|T	.|0.29397	.|1.57	4.67|4.67	1.86|1.86	0.25419|0.25419	.|.	.|0.705098	.|0.11877	.|N	.|0.520862	T|T	0.14570|0.14570	0.0352|0.0352	N|N	0.08118|0.08118	0|0	0.21719|0.21719	N|N	0.999571|0.999571	.|B	.|0.22346	.|0.068	.|B	.|0.21546	.|0.035	T|T	0.23154|0.23154	-1.0196|-1.0196	6|10	0.87932|0.62326	D|D	0|0.03	-3.8951|-3.8951	4.1823|4.1823	0.10381|0.10381	0.1941:0.0:0.6251:0.1808|0.1941:0.0:0.6251:0.1808	.|.	.|235	.|Q53SZ7	.|CB053_HUMAN	E|N	70|235	.|ENSP00000335017:H235N	ENSP00000393468:A70E|ENSP00000335017:H235N	A|H	-|-	2|1	0|0	C2orf53|C2orf53	27213999|27213999	0.995000|0.995000	0.38212|0.38212	0.978000|0.978000	0.43139|0.43139	0.988000|0.988000	0.76386|0.76386	1.428000|1.428000	0.34892|0.34892	0.186000|0.186000	0.20125|0.20125	0.561000|0.561000	0.74099|0.74099	GCA|CAC		0.687	C2orf53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250188.1				12	48	1	0	1.61879e-10	1	1.73479e-10	12	48		
GTF3C2	2976	broad.mit.edu	37	2	27559164	27559164	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:27559164G>C	ENST00000359541.2	-	8	1685	c.1256C>G	c.(1255-1257)tCc>tGc	p.S419C	AC109828.1_ENST00000416453.2_RNA|AC109828.1_ENST00000585645.1_RNA|AC109828.1_ENST00000589853.1_RNA|AC109828.1_ENST00000590754.1_RNA|GTF3C2_ENST00000264720.3_Missense_Mutation_p.S419C|AC109828.1_ENST00000608473.1_RNA|AC109828.1_ENST00000589232.1_RNA|AC109828.1_ENST00000585326.1_RNA|AC109828.1_ENST00000588707.1_RNA|AC109828.1_ENST00000587586.1_RNA|AC109828.1_ENST00000590383.1_RNA|AC109828.1_ENST00000592265.1_RNA			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	419					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTCAGGGCTGGAGAAAAGAGC	0.617																																						uc002rjv.1		NaN																	0				ovary(1)|skin(1)	2						c.(1255-1257)TCC>TGC		general transcription factor IIIC, polypeptide							79.0	77.0	78.0					2																	27559164		2203	4300	6503	SO:0001583	missense	2976					transcription factor TFIIIC complex		g.chr2:27559164G>C	D13636	CCDS1749.1	2p23.3	2013-01-10	2002-08-29		ENSG00000115207	ENSG00000115207		"""General transcription factors"", ""WD repeat domain containing"""	4665	protein-coding gene	gene with protein product		604883	"""general transcription factor IIIC, polypeptide 2 (beta subunit, 110kD)"""			7729686	Standard	NM_001521		Approved	KIAA0011, TFIIIC110	uc002rjw.2	Q8WUA4	OTTHUMG00000097785	ENST00000359541.2:c.1256C>G	2.37:g.27559164G>C	ENSP00000352536:p.Ser419Cys					GTF3C2_uc010eyy.1_5'Flank|GTF3C2_uc002rju.1_Missense_Mutation_p.S430C|GTF3C2_uc002rjw.1_Missense_Mutation_p.S419C|GTF3C2_uc010eyz.1_Missense_Mutation_p.S419C|uc002rjy.1_RNA	p.S419C	NM_001521	NP_001512	Q8WUA4	TF3C2_HUMAN			9	1619	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		419					D6W557|Q16632|Q9BWI7	Missense_Mutation	SNP	ENST00000359541.2	37	c.1256C>G	CCDS1749.1	.	.	.	.	.	.	.	.	.	.	G	14.69	2.611605	0.46631	.	.	ENSG00000115207	ENST00000359541;ENST00000264720	T;T	0.64991	-0.13;-0.13	5.71	4.81	0.61882	.	0.159533	0.56097	D	0.000022	T	0.26159	0.0638	N	0.00246	-1.78	0.31668	N	0.644695	B;B;B	0.11235	0.004;0.0;0.004	B;B;B	0.11329	0.006;0.001;0.006	T	0.26018	-1.0115	10	0.36615	T	0.2	-15.2483	11.8698	0.52513	0.0:0.3084:0.6916:0.0	.	419;419;419	Q8WUA4-2;Q8WUA4;Q53QN0	.;TF3C2_HUMAN;.	C	419	ENSP00000352536:S419C;ENSP00000264720:S419C	ENSP00000264720:S419C	S	-	2	0	GTF3C2	27412668	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.701000	0.61810	2.711000	0.92665	0.563000	0.77884	TCC		0.617	GTF3C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215028.2				33	133	0	0	0	1	0	33	133		
ZNF513	130557	broad.mit.edu	37	2	27603017	27603017	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:27603017C>G	ENST00000323703.6	-	2	352	c.154G>C	c.(154-156)Gag>Cag	p.E52Q	ZNF513_ENST00000491924.1_5'Flank|ZNF513_ENST00000407879.1_5'UTR	NM_144631.5	NP_653232.3	Q8N8E2	ZN513_HUMAN	zinc finger protein 513	52	Poly-Glu.				regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	17	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTTCCTCCTCTTCCTCTTCC	0.562																																						uc002rkk.2		NaN																	0				ovary(1)	1						c.(154-156)GAG>CAG		zinc finger protein 513							128.0	130.0	130.0					2																	27603017		2203	4300	6503	SO:0001583	missense	130557				regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception	nucleus	transcription regulatory region DNA binding|zinc ion binding	g.chr2:27603017C>G	AL833946	CCDS1751.1, CCDS56114.1	2p23.3	2014-01-28			ENSG00000163795	ENSG00000163795		"""Zinc fingers, C2H2-type"""	26498	protein-coding gene	gene with protein product		613598				12477932	Standard	NM_001201459		Approved	FLJ32203, RP58	uc002rkk.3	Q8N8E2	OTTHUMG00000097783	ENST00000323703.6:c.154G>C	2.37:g.27603017C>G	ENSP00000318373:p.Glu52Gln					ZNF513_uc002rkj.2_5'UTR	p.E52Q	NM_144631	NP_653232	Q8N8E2	ZN513_HUMAN			2	354	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		52			Poly-Glu.		A8K3S5|B7WP71|Q3ZCU1|Q68CJ1|Q86UZ3|Q8NDL8|Q96ML3	Missense_Mutation	SNP	ENST00000323703.6	37	c.154G>C	CCDS1751.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.127658	0.77549	.	.	ENSG00000163795	ENST00000323703	T	0.07327	3.2	3.66	3.66	0.41972	.	0.377447	0.19472	N	0.113437	T	0.04952	0.0133	N	0.14661	0.345	0.80722	D	1	B	0.16166	0.016	B	0.14578	0.011	T	0.39418	-0.9615	10	0.15499	T	0.54	-8.9301	11.0697	0.47995	0.0:1.0:0.0:0.0	.	52	Q8N8E2	ZN513_HUMAN	Q	52	ENSP00000318373:E52Q	ENSP00000318373:E52Q	E	-	1	0	ZNF513	27456521	0.145000	0.22656	1.000000	0.80357	0.994000	0.84299	0.000000	0.12993	2.040000	0.60383	0.555000	0.69702	GAG		0.562	ZNF513-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215026.2		NM_144631		17	263	0	0	0	1	0	17	263		
C2orf16	84226	broad.mit.edu	37	2	27804354	27804354	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:27804354C>T	ENST00000408964.2	+	1	4966	c.4915C>T	c.(4915-4917)Cgc>Tgc	p.R1639C	ZNF512_ENST00000379717.1_5'Flank|ZNF512_ENST00000355467.4_5'Flank|AC074091.1_ENST00000408604.1_RNA|RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000413371.2_5'Flank|ZNF512_ENST00000556601.1_5'Flank|ZNF512_ENST00000416005.2_5'Flank	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1639	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.					extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					GAGGAGCCATCGCGGTCCCTC	0.577																																						uc002rkz.3		NaN																	0				large_intestine(1)	1						c.(4915-4917)CGC>TGC		hypothetical protein LOC84226							127.0	127.0	127.0					2																	27804354		1883	4111	5994	SO:0001583	missense	84226							g.chr2:27804354C>T	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.4915C>T	2.37:g.27804354C>T	ENSP00000386190:p.Arg1639Cys					ZNF512_uc010ylv.1_5'Flank|ZNF512_uc010ylw.1_5'Flank|ZNF512_uc002rlb.2_5'Flank|ZNF512_uc010ylx.1_5'Flank|ZNF512_uc002rlc.2_5'Flank|ZNF512_uc002rla.2_5'Flank|ZNF512_uc010yly.1_5'Flank|ZNF512_uc010ylz.1_5'Flank	p.R1639C	NM_032266	NP_115642	Q68DN1	CB016_HUMAN			1	4966	+	Acute lymphoblastic leukemia(172;0.155)		1639			27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.		B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	ENST00000408964.2	37	c.4915C>T	CCDS42666.1	.	.	.	.	.	.	.	.	.	.	C	11.19	1.566699	0.28003	.	.	ENSG00000221843	ENST00000408964	T	0.05447	3.44	3.44	0.365	0.16131	.	.	.	.	.	T	0.06554	0.0168	L	0.51422	1.61	0.09310	N	1	B	0.17038	0.02	B	0.10450	0.005	T	0.33929	-0.9849	9	0.54805	T	0.06	.	5.2108	0.15316	0.3579:0.5319:0.0:0.1102	.	1639	Q68DN1	CB016_HUMAN	C	1639	ENSP00000386190:R1639C	ENSP00000386190:R1639C	R	+	1	0	C2orf16	27657858	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-2.258000	0.01179	0.223000	0.20920	0.313000	0.20887	CGC		0.577	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1		NM_032266		50	297	0	0	0	1	0	50	297		
SLC4A1AP	22950	broad.mit.edu	37	2	27886635	27886635	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:27886635C>A	ENST00000326019.6	+	1	298	c.16C>A	c.(16-18)Cgc>Agc	p.R6S	SUPT7L_ENST00000404798.2_5'Flank|SUPT7L_ENST00000405491.1_5'Flank|SUPT7L_ENST00000464789.2_5'Flank|SUPT7L_ENST00000406540.1_5'Flank|SUPT7L_ENST00000337768.5_5'UTR	NM_018158.2	NP_060628.2	Q9BWU0	NADAP_HUMAN	solute carrier family 4 (anion exchanger), member 1, adaptor protein	6						cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.155)					AGCACCACTTCGCAACGCTCC	0.517																																						uc002rlk.3		NaN																	0					0						c.(16-18)CGC>AGC		solute carrier family 4 (anion exchanger),							102.0	108.0	106.0					2																	27886635		2203	4300	6503	SO:0001583	missense	22950					cytoplasm|nucleus	double-stranded RNA binding|protein binding	g.chr2:27886635C>A		CCDS33166.1	2p23.3	2010-03-11	2001-11-28		ENSG00000163798	ENSG00000163798			13813	protein-coding gene	gene with protein product	"""lung cancer oncogene 3"""	602655	"""solute carrier family 4 (anion exchanger), member 1, adapter protein"""			9422766	Standard	NM_018158		Approved	kanadaptin, HLC3	uc002rlk.4	Q9BWU0	OTTHUMG00000151944	ENST00000326019.6:c.16C>A	2.37:g.27886635C>A	ENSP00000323837:p.Arg6Ser					SUPT7L_uc002rlh.1_5'Flank|SUPT7L_uc002rli.1_5'Flank|SUPT7L_uc010ymf.1_5'Flank|SUPT7L_uc002rlj.1_5'Flank|SUPT7L_uc010ezh.1_5'Flank	p.R6S	NM_018158	NP_060628	Q9BWU0	NADAP_HUMAN			1	298	+	Acute lymphoblastic leukemia(172;0.155)		6					A6NJ39|Q4KMT1|Q4KMX0|Q7Z5Q9|Q9NVN2	Missense_Mutation	SNP	ENST00000326019.6	37	c.16C>A	CCDS33166.1	.	.	.	.	.	.	.	.	.	.	C	6.301	0.423637	0.11928	.	.	ENSG00000163798	ENST00000326019	T	0.34072	1.38	3.52	0.141	0.14811	.	.	.	.	.	T	0.15522	0.0374	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.10450	0.005	T	0.33111	-0.9881	9	0.13470	T	0.59	.	6.6139	0.22766	0.0:0.6428:0.0:0.3572	.	6	Q9BWU0	NADAP_HUMAN	S	6	ENSP00000323837:R6S	ENSP00000323837:R6S	R	+	1	0	SLC4A1AP	27740139	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.100000	0.03339	0.019000	0.15079	-1.310000	0.01310	CGC		0.517	SLC4A1AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324550.1		NM_018158		37	164	1	0	2.2871e-25	1	2.57583e-25	37	164		
BRE	9577	broad.mit.edu	37	2	28248194	28248194	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:28248194G>A	ENST00000342045.2	+	6	543	c.402G>A	c.(400-402)gaG>gaA	p.E134E	BRE_ENST00000361704.2_Silent_p.E134E|BRE_ENST00000603461.1_3'UTR|BRE_ENST00000379624.1_Silent_p.E134E|BRE_ENST00000344773.2_Silent_p.E134E|BRE_ENST00000379632.2_Silent_p.E134E	NM_199194.2	NP_954664.1			brain and reproductive organ-expressed (TNFRSF1A modulator)											NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2)	23	Acute lymphoblastic leukemia(172;0.155)					GCCTCCGGGAGAGCTCCCGCC	0.453																																						uc002rlr.2		NaN																	0				lung(1)|kidney(1)|skin(1)	3						c.(400-402)GAG>GAA		brain and reproductive organ-expressed (TNFRSF1A							60.0	67.0	64.0					2																	28248194		2203	4300	6503	SO:0001819	synonymous_variant	9577				apoptosis|chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of anti-apoptosis|positive regulation of DNA repair|response to ionizing radiation|signal transduction	BRCA1-A complex|BRISC complex|cytoplasm|nuclear ubiquitin ligase complex	peroxisome targeting sequence binding|polyubiquitin binding|tumor necrosis factor receptor binding	g.chr2:28248194G>A	AF015767	CCDS1763.1, CCDS1764.1, CCDS1765.1	2p23	2008-02-05			ENSG00000158019	ENSG00000158019			1106	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 4"""	610497				9737713, 7826398	Standard	NM_004899		Approved	BRCC45, BRCC4	uc002rls.3	Q9NXR7	OTTHUMG00000097831	ENST00000342045.2:c.402G>A	2.37:g.28248194G>A						BRE_uc002rlp.1_Silent_p.E134E|BRE_uc002rlq.2_Silent_p.E134E|BRE_uc002rls.2_Silent_p.E134E|BRE_uc002rlt.2_Silent_p.E134E|BRE_uc002rlu.2_Silent_p.E134E|BRE_uc002rlv.2_5'UTR	p.E134E	NM_199194	NP_954664	Q9NXR7	BRE_HUMAN			6	720	+	Acute lymphoblastic leukemia(172;0.155)		134			UEV-like 1.			Silent	SNP	ENST00000342045.2	37	c.402G>A	CCDS1763.1																																																																																				0.453	BRE-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215114.1				90	42	0	0	0	1	0	90	42		
PLB1	151056	broad.mit.edu	37	2	28761192	28761192	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:28761192C>G	ENST00000327757.5	+	10	606	c.562C>G	c.(562-564)Ctt>Gtt	p.L188V	PLB1_ENST00000422425.2_Missense_Mutation_p.L199V	NM_153021.4	NP_694566.4	Q6P1J6	PLB1_HUMAN	phospholipase B1	188	4 X 308-326 AA approximate repeats.				glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					ACAGAATGGGCTTGCGGCGGG	0.662																																						uc002rmb.1		NaN																	0				ovary(4)|large_intestine(2)|skin(2)|breast(1)	9						c.(562-564)CTT>GTT		phospholipase B1 precursor							48.0	45.0	46.0					2																	28761192		2203	4300	6503	SO:0001583	missense	151056				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity	g.chr2:28761192C>G		CCDS33168.1, CCDS54340.1	2p23.3	2014-03-14			ENSG00000163803	ENSG00000163803	3.1.1.4, 3.1.1.5		30041	protein-coding gene	gene with protein product		610179				12150957	Standard	NM_153021		Approved	PLB, FLJ30866	uc002rmb.2	Q6P1J6	OTTHUMG00000152014	ENST00000327757.5:c.562C>G	2.37:g.28761192C>G	ENSP00000330442:p.Leu188Val					PLB1_uc010ezj.1_Missense_Mutation_p.L199V	p.L188V	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN			10	562	+	Acute lymphoblastic leukemia(172;0.155)		188			4 X 308-326 AA approximate repeats.|Extracellular (Potential).|1.		A8KAX2|Q53S03|Q8IUP7|Q96DP9	Missense_Mutation	SNP	ENST00000327757.5	37	c.562C>G	CCDS33168.1	.	.	.	.	.	.	.	.	.	.	C	8.017	0.758807	0.15846	.	.	ENSG00000163803	ENST00000416713;ENST00000327757;ENST00000422425	T;T;T	0.22945	1.93;2.76;2.72	5.0	0.19	0.15125	.	1.808460	0.02585	N	0.099310	T	0.14960	0.0361	N	0.22421	0.69	0.09310	N	0.999999	B;B	0.28933	0.228;0.113	B;B	0.24394	0.053;0.02	T	0.12116	-1.0560	10	0.16896	T	0.51	0.4747	3.2044	0.06661	0.2749:0.482:0.1348:0.1083	.	199;188	Q6P1J6-3;Q6P1J6	.;PLB1_HUMAN	V	143;188;199	ENSP00000407076:L143V;ENSP00000330442:L188V;ENSP00000416440:L199V	ENSP00000330442:L188V	L	+	1	0	PLB1	28614696	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.298000	0.08265	0.093000	0.17368	0.491000	0.48974	CTT		0.662	PLB1-012	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353348.2				5	35	0	0	0	1	0	5	35		
RASGRP3	25780	broad.mit.edu	37	2	33768679	33768679	+	Missense_Mutation	SNP	T	T	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:33768679T>A	ENST00000403687.3	+	13	2119	c.1379T>A	c.(1378-1380)gTt>gAt	p.V460D	RASGRP3_ENST00000402538.3_Missense_Mutation_p.V460D|RASGRP3_ENST00000407811.1_Missense_Mutation_p.V459D|RASGRP3_ENST00000482731.1_3'UTR	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	460	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				MAPK cascade (GO:0000165)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)	guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|guanyl-nucleotide exchange factor activity (GO:0005085)|Rap GTPase activator activity (GO:0046582)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					TCCTTCTGTGTTCTGGACAAA	0.338																																						uc002rox.2		NaN																	0				lung(3)|ovary(1)|pancreas(1)	5						c.(1378-1380)GTT>GAT		RAS guanyl releasing protein 3 (calcium and							84.0	75.0	77.0					2																	33768679		1808	4082	5890	SO:0001583	missense	25780				MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity	g.chr2:33768679T>A	AB020653	CCDS46256.1, CCDS54346.1	2p25.1-p24.1	2013-01-10			ENSG00000152689	ENSG00000152689		"""EF-hand domain containing"""	14545	protein-coding gene	gene with protein product		609531				10048485, 10934204	Standard	NM_170672		Approved	KIAA0846, GRP3	uc002roy.3	Q8IV61	OTTHUMG00000152124	ENST00000403687.3:c.1379T>A	2.37:g.33768679T>A	ENSP00000384192:p.Val460Asp					RASGRP3_uc010ync.1_Missense_Mutation_p.V460D|RASGRP3_uc002roy.2_Missense_Mutation_p.V459D	p.V460D	NM_170672	NP_733772	Q8IV61	GRP3_HUMAN			14	2006	+	all_hematologic(175;0.115)		460			EF-hand 2.		D6W583|O94931|Q53SD7	Missense_Mutation	SNP	ENST00000403687.3	37	c.1379T>A	CCDS46256.1	.	.	.	.	.	.	.	.	.	.	T	11.80	1.746035	0.30955	.	.	ENSG00000152689	ENST00000402538;ENST00000403687;ENST00000407811	T;T;T	0.78595	-1.19;-1.19;-1.19	5.54	5.54	0.83059	EF-hand-like domain (1);	0.075061	0.52532	N	0.000071	T	0.55130	0.1901	N	0.02539	-0.55	0.80722	D	1	B;B	0.16166	0.016;0.008	B;B	0.23716	0.048;0.013	T	0.55263	-0.8168	10	0.11485	T	0.65	-15.4587	15.6717	0.77283	0.0:0.0:0.0:1.0	.	459;460	D6W583;Q8IV61	.;GRP3_HUMAN	D	460;460;459	ENSP00000385886:V460D;ENSP00000384192:V460D;ENSP00000383917:V459D	ENSP00000385886:V460D	V	+	2	0	RASGRP3	33622183	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.967000	0.87967	2.102000	0.63906	0.460000	0.39030	GTT		0.338	RASGRP3-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325462.2		NM_015376		5	19	0	0	0	1	0	5	19		
CRIM1	51232	broad.mit.edu	37	2	36583615	36583615	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:36583615C>T	ENST00000280527.2	+	1	547	c.180C>T	c.(178-180)tgC>tgT	p.C60C	RP11-490M8.1_ENST00000565283.1_lincRNA	NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	60	IGFBP N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00653}.				insulin-like growth factor receptor signaling pathway (GO:0048009)|nervous system development (GO:0007399)|regulation of cell growth (GO:0001558)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	insulin-like growth factor-activated receptor activity (GO:0005010)|PDZ domain binding (GO:0030165)|serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				AGGGCGTCTGCGGCTGCTGCT	0.697																																						uc002rpd.2		NaN																	0				ovary(2)|skin(1)	3						c.(178-180)TGC>TGT		cysteine-rich motor neuron 1 precursor							30.0	32.0	31.0					2																	36583615		2193	4280	6473	SO:0001819	synonymous_variant	51232				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity	g.chr2:36583615C>T	AF168681	CCDS1783.1	2p21	2010-06-29	2005-07-25		ENSG00000150938	ENSG00000150938			2359	protein-coding gene	gene with protein product		606189	"""cysteine-rich motor neuron 1"""	S52		10642437	Standard	NM_016441		Approved		uc002rpd.3	Q9NZV1	OTTHUMG00000099419	ENST00000280527.2:c.180C>T	2.37:g.36583615C>T							p.C60C	NM_016441	NP_057525	Q9NZV1	CRIM1_HUMAN			1	219	+		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)	60			IGFBP N-terminal.|Extracellular (Potential).		Q2M2G4|Q59GH0|Q7LCQ5|Q9H318	Silent	SNP	ENST00000280527.2	37	c.180C>T	CCDS1783.1	.	.	.	.	.	.	.	.	.	.	C	7.487	0.649813	0.14516	.	.	ENSG00000150938	ENST00000428774	.	.	.	3.26	2.36	0.29203	.	.	.	.	.	T	0.60038	0.2238	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54794	-0.8240	4	.	.	.	-0.6299	10.9542	0.47347	0.1886:0.8114:0.0:0.0	.	.	.	.	V	1	.	.	A	+	2	0	CRIM1	36437119	1.000000	0.71417	0.986000	0.45419	0.521000	0.34408	2.506000	0.45433	0.484000	0.27630	-0.182000	0.12963	GCG		0.697	CRIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216878.2		NM_016441		5	44	0	0	0	1	0	5	44		
NDUFAF7	55471	broad.mit.edu	37	2	37473327	37473327	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:37473327G>C	ENST00000002125.4	+	8	965	c.925G>C	c.(925-927)Gat>Cat	p.D309H	NDUFAF7_ENST00000483999.1_3'UTR|NDUFAF7_ENST00000336237.6_Missense_Mutation_p.D211H	NM_144736.4	NP_653337.1	Q7L592	NDUF7_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 7	309					methylation (GO:0032259)|mitochondrial respiratory chain complex I assembly (GO:0032981)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	enzyme binding (GO:0019899)|methyltransferase activity (GO:0008168)										AACAAAGACAGATACCTTCAG	0.403																																						uc002rqa.3		NaN																	0				central_nervous_system(1)	1						c.(925-927)GAT>CAT		hypothetical protein LOC55471 isoform 1							158.0	133.0	141.0					2																	37473327		2203	4300	6503	SO:0001583	missense	55471				mitochondrial respiratory chain complex I assembly	mitochondrion	enzyme binding|methyltransferase activity	g.chr2:37473327G>C		CCDS1788.1, CCDS42673.1	2p22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000003509	ENSG00000003509		"""Mitochondrial respiratory chain complex assembly factors"""	28816	protein-coding gene	gene with protein product	"""mitochondrial dysfunction protein A homolog"""	615898	"""chromosome 2 open reading frame 56"""	C2orf56			Standard	NM_144736		Approved	PRO1853, MidA	uc002rqa.4	Q7L592	OTTHUMG00000128468	ENST00000002125.4:c.925G>C	2.37:g.37473327G>C	ENSP00000002125:p.Asp309His					C2orf56_uc010ynj.1_RNA|C2orf56_uc002rqc.3_Missense_Mutation_p.D211H|C2orf56_uc010ynk.1_Missense_Mutation_p.D238H|C2orf56_uc010ynl.1_Missense_Mutation_p.D282H|C2orf56_uc010fah.2_RNA	p.D309H	NM_144736	NP_653337	Q7L592	MIDA_HUMAN			8	1000	+		all_hematologic(82;0.21)	309					Q7Z399|Q9P1G3	Missense_Mutation	SNP	ENST00000002125.4	37	c.925G>C	CCDS1788.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.826605	0.90955	.	.	ENSG00000003509	ENST00000002125;ENST00000336237;ENST00000431821;ENST00000439218	T;T	0.78364	-1.17;-1.17	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.89111	0.6622	M	0.84219	2.685	0.80722	D	1	D;P;D;D	0.59357	0.985;0.787;0.966;0.985	D;P;P;P	0.66716	0.946;0.626;0.709;0.906	D	0.89600	0.3834	10	0.62326	D	0.03	-12.4694	19.7438	0.96243	0.0:0.0:1.0:0.0	.	282;238;211;309	E7EUC2;B4DQY3;Q7L592-2;Q7L592	.;.;.;MIDA_HUMAN	H	309;211;230;267	ENSP00000002125:D309H;ENSP00000337431:D211H	ENSP00000002125:D309H	D	+	1	0	C2orf56	37326831	1.000000	0.71417	0.931000	0.37212	0.998000	0.95712	9.303000	0.96183	2.665000	0.90641	0.650000	0.86243	GAT		0.403	NDUFAF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250267.1		NM_144736		15	92	0	0	0	1	0	15	92		
NDUFAF7	55471	broad.mit.edu	37	2	37474653	37474653	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:37474653C>G	ENST00000002125.4	+	9	1031	c.991C>G	c.(991-993)Cta>Gta	p.L331V	NDUFAF7_ENST00000336237.6_Missense_Mutation_p.L233V	NM_144736.4	NP_653337.1	Q7L592	NDUF7_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 7	331					methylation (GO:0032259)|mitochondrial respiratory chain complex I assembly (GO:0032981)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	enzyme binding (GO:0019899)|methyltransferase activity (GO:0008168)										AACAGCAGATCTAACAGCTGA	0.398																																						uc002rqa.3		NaN																	0				central_nervous_system(1)	1						c.(991-993)CTA>GTA		hypothetical protein LOC55471 isoform 1							95.0	89.0	91.0					2																	37474653		2203	4300	6503	SO:0001583	missense	55471				mitochondrial respiratory chain complex I assembly	mitochondrion	enzyme binding|methyltransferase activity	g.chr2:37474653C>G		CCDS1788.1, CCDS42673.1	2p22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000003509	ENSG00000003509		"""Mitochondrial respiratory chain complex assembly factors"""	28816	protein-coding gene	gene with protein product	"""mitochondrial dysfunction protein A homolog"""	615898	"""chromosome 2 open reading frame 56"""	C2orf56			Standard	NM_144736		Approved	PRO1853, MidA	uc002rqa.4	Q7L592	OTTHUMG00000128468	ENST00000002125.4:c.991C>G	2.37:g.37474653C>G	ENSP00000002125:p.Leu331Val					C2orf56_uc010ynj.1_RNA|C2orf56_uc002rqc.3_Missense_Mutation_p.L233V|C2orf56_uc010ynk.1_Missense_Mutation_p.L260V|C2orf56_uc010ynl.1_Missense_Mutation_p.L304V|C2orf56_uc010fah.2_RNA	p.L331V	NM_144736	NP_653337	Q7L592	MIDA_HUMAN			9	1066	+		all_hematologic(82;0.21)	331					Q7Z399|Q9P1G3	Missense_Mutation	SNP	ENST00000002125.4	37	c.991C>G	CCDS1788.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.116841	0.77323	.	.	ENSG00000003509	ENST00000002125;ENST00000336237	T;T	0.81330	-1.48;-1.48	5.37	4.48	0.54585	.	0.000000	0.64402	D	0.000001	D	0.89444	0.6717	M	0.82630	2.6	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.997;1.0	D;D;D;D	0.83275	0.996;0.987;0.966;0.991	D	0.90355	0.4369	10	0.62326	D	0.03	-13.471	13.4561	0.61199	0.0:0.9246:0.0:0.0754	.	304;260;233;331	E7EUC2;B4DQY3;Q7L592-2;Q7L592	.;.;.;MIDA_HUMAN	V	331;233	ENSP00000002125:L331V;ENSP00000337431:L233V	ENSP00000002125:L331V	L	+	1	2	C2orf56	37328157	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	2.833000	0.48159	2.502000	0.84385	0.563000	0.77884	CTA		0.398	NDUFAF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250267.1		NM_144736		11	175	0	0	0	1	0	11	175		
LRPPRC	10128	broad.mit.edu	37	2	44161983	44161983	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:44161983C>T	ENST00000260665.7	-	24	2596	c.2539G>A	c.(2539-2541)Gac>Aac	p.D847N		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	847					mitochondrion transport along microtubule (GO:0047497)|mRNA transport (GO:0051028)|negative regulation of mitochondrial RNA catabolic process (GO:0000961)|regulation of mitochondrial translation (GO:0070129)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TCATAGCAGTCAATGGCGACC	0.363																																						uc002rtr.2		NaN																	0				ovary(2)|skin(1)	3						c.(2539-2541)GAC>AAC		leucine-rich PPR motif-containing protein							94.0	90.0	92.0					2																	44161983		2202	4300	6502	SO:0001583	missense	10128				mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding	g.chr2:44161983C>T	M92439	CCDS33189.1	2p21	2012-02-24	2012-02-24		ENSG00000138095	ENSG00000138095			15714	protein-coding gene	gene with protein product		607544	"""Leigh syndrome, French-Canadian type (cytochrome oxidase deficiency)"""	LSFC		8012652, 8619474, 22045337	Standard	NM_133259		Approved	GP130, LRP130	uc002rtr.2	P42704	OTTHUMG00000152782	ENST00000260665.7:c.2539G>A	2.37:g.44161983C>T	ENSP00000260665:p.Asp847Asn					LRPPRC_uc010yob.1_Missense_Mutation_p.D747N	p.D847N	NM_133259	NP_573566	P42704	LPPRC_HUMAN			24	2597	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	847			PPR 13.		A0PJE3|A8K1V1|Q53PC0|Q53QN7|Q6ZUD8|Q7Z7A6|Q96D84	Missense_Mutation	SNP	ENST00000260665.7	37	c.2539G>A	CCDS33189.1	.	.	.	.	.	.	.	.	.	.	C	13.55	2.271661	0.40194	.	.	ENSG00000138095	ENST00000465633;ENST00000260665	T	0.56776	0.44	6.03	4.24	0.50183	.	0.419907	0.27851	N	0.017583	T	0.48857	0.1523	M	0.67953	2.075	0.80722	D	1	B;B	0.22909	0.077;0.003	B;B	0.21708	0.036;0.003	T	0.43782	-0.9370	10	0.42905	T	0.14	-7.503	8.9747	0.35928	0.0:0.7166:0.0:0.2834	.	747;847	F5H4J6;P42704	.;LPPRC_HUMAN	N	747;847	ENSP00000260665:D847N	ENSP00000260665:D847N	D	-	1	0	LRPPRC	44015487	0.995000	0.38212	0.127000	0.21898	0.040000	0.13550	2.175000	0.42491	0.885000	0.36088	-0.136000	0.14681	GAC		0.363	LRPPRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327823.1		NM_133259		10	77	0	0	0	1	0	10	77		
EPAS1	2034	broad.mit.edu	37	2	46583940	46583940	+	Silent	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:46583940C>G	ENST00000263734.3	+	4	957	c.447C>G	c.(445-447)ctC>ctG	p.L149L		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	149	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|erythrocyte differentiation (GO:0030218)|lung development (GO:0030324)|mitochondrion organization (GO:0007005)|myoblast fate commitment (GO:0048625)|norepinephrine metabolic process (GO:0042415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart rate (GO:0002027)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|surfactant homeostasis (GO:0043129)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			ACCTGAGTCTCAAAAATGGTA	0.473																																						uc002ruv.2		NaN																	0				ovary(1)|skin(1)	2						c.(445-447)CTC>CTG		endothelial PAS domain protein 1							133.0	127.0	129.0					2																	46583940		2203	4300	6503	SO:0001819	synonymous_variant	2034				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding	g.chr2:46583940C>G	U81984	CCDS1825.1	2p21-p16	2013-05-21			ENSG00000116016	ENSG00000116016		"""Basic helix-loop-helix proteins"""	3374	protein-coding gene	gene with protein product	"""HIF-1 alpha-like factor"""	603349				9000051, 9079689, 18378852	Standard	NM_001430		Approved	MOP2, PASD2, HIF2A, HLF, bHLHe73	uc002ruv.3	Q99814	OTTHUMG00000128818	ENST00000263734.3:c.447C>G	2.37:g.46583940C>G							p.L149L	NM_001430	NP_001421	Q99814	EPAS1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.151)		4	935	+		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	149			PAS 1.		Q86VA2|Q99630	Silent	SNP	ENST00000263734.3	37	c.447C>G	CCDS1825.1																																																																																				0.473	EPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250752.2		NM_001430		27	46	0	0	0	1	0	27	46		
SPTBN1	6711	broad.mit.edu	37	2	54883057	54883057	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:54883057G>T	ENST00000356805.4	+	29	6249	c.5968G>T	c.(5968-5970)Gaa>Taa	p.E1990*	SPTBN1_ENST00000333896.5_Nonsense_Mutation_p.E1977*	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1990	Interaction with ANK2.				actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			ACAGATCAAGGAAAAATTACT	0.393																																						uc002rxu.2		NaN																	0				ovary(3)|breast(2)|central_nervous_system(2)|skin(1)	8						c.(5968-5970)GAA>TAA		spectrin, beta, non-erythrocytic 1 isoform 1							101.0	95.0	97.0					2																	54883057		2203	4300	6503	SO:0001587	stop_gained	6711				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	g.chr2:54883057G>T		CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"""Pleckstrin homology (PH) domain containing"""	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.5968G>T	2.37:g.54883057G>T	ENSP00000349259:p.Glu1990*					SPTBN1_uc002rxx.2_Nonsense_Mutation_p.E1977*|SPTBN1_uc002rxy.2_Nonsense_Mutation_p.E135*|SPTBN1_uc010you.1_5'Flank	p.E1990*	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	Lung(47;0.24)		29	6217	+			1990			Spectrin 17.|Interaction with ANK2.		B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Nonsense_Mutation	SNP	ENST00000356805.4	37	c.5968G>T	CCDS33198.1	.	.	.	.	.	.	.	.	.	.	G	50	16.233716	0.99858	.	.	ENSG00000115306	ENST00000356805;ENST00000333896	.	.	.	6.02	6.02	0.97574	.	0.053404	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	20.5373	0.99239	0.0:0.0:1.0:0.0	.	.	.	.	X	1990;1977	.	ENSP00000334156:E1977X	E	+	1	0	SPTBN1	54736561	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.807000	0.99171	2.857000	0.98124	0.650000	0.86243	GAA		0.393	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3				13	31	1	0	0.00136819	1	0.00138729	13	31		
CCDC88A	55704	broad.mit.edu	37	2	55559821	55559821	+	Silent	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:55559821C>A	ENST00000436346.1	-	16	3577	c.2736G>T	c.(2734-2736)gtG>gtT	p.V912V	CCDC88A_ENST00000413716.2_Silent_p.V912V|AC012358.8_ENST00000599475.1_RNA|AC012358.8_ENST00000600219.1_RNA|CCDC88A_ENST00000263630.8_Silent_p.V912V|AC012358.8_ENST00000608103.1_RNA|CCDC88A_ENST00000336838.6_Silent_p.V912V|AC012358.8_ENST00000599352.1_RNA|AC012358.8_ENST00000594078.1_RNA	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	912					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						ACTTTTCACTCACCAAATCCT	0.353																																						uc002ryv.2		NaN																	0				ovary(2)|skin(2)	4						c.(2734-2736)GTG>GTT		coiled-coil domain containing 88A isoform 1							121.0	117.0	118.0					2																	55559821		2202	4299	6501	SO:0001819	synonymous_variant	55704				activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding	g.chr2:55559821C>A	AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"""Galpha-interacting vesicle-associated protein"", ""Akt-phosphorylation enhancer"", ""girdin"", ""girders of actin filaments"""	609736	"""KIAA1212"""	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.2736G>T	2.37:g.55559821C>A						CCDC88A_uc010yoz.1_Silent_p.V912V|CCDC88A_uc010ypa.1_Silent_p.V912V|CCDC88A_uc002ryu.2_Silent_p.V195V|CCDC88A_uc002ryw.2_Silent_p.V195V	p.V912V	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN			16	3578	-			912			Potential.		A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Silent	SNP	ENST00000436346.1	37	c.2736G>T																																																																																					0.353	CCDC88A-203	KNOWN	basic	protein_coding	protein_coding			NM_017571		10	80	1	0	3.07112e-06	1	3.19359e-06	10	80		
USP34	9736	broad.mit.edu	37	2	61433904	61433904	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:61433904G>C	ENST00000398571.2	-	71	9113	c.9037C>G	c.(9037-9039)Cag>Gag	p.Q3013E	USP34_ENST00000472689.1_5'Flank	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	3013					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			CCTTTTCTCTGAAGATAAGGG	0.378																																						uc002sbe.2		NaN																	0				ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19						c.(9037-9039)CAG>GAG		ubiquitin specific protease 34							60.0	56.0	57.0					2																	61433904		1837	4089	5926	SO:0001583	missense	9736				positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr2:61433904G>C	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.9037C>G	2.37:g.61433904G>C	ENSP00000381577:p.Gln3013Glu					USP34_uc002sbd.2_5'Flank	p.Q3013E	NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		71	9059	-			3013					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	c.9037C>G	CCDS42686.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.70|15.70	2.909607|2.909607	0.52439|0.52439	.|.	.|.	ENSG00000115464|ENSG00000115464	ENST00000263989;ENST00000398571|ENST00000411912	T|.	0.65178|.	-0.14|.	5.82|5.82	5.82|5.82	0.92795|0.92795	Armadillo-type fold (1);|.	0.054080|.	0.85682|.	D|.	0.000000|.	T|.	0.52468|.	0.1736|.	N|N	0.14661|0.14661	0.345|0.345	0.58432|0.58432	D|D	0.999999|0.999999	B|.	0.25007|.	0.116|.	B|.	0.17098|.	0.017|.	T|.	0.45205|.	-0.9277|.	10|.	0.06236|.	T|.	0.91|.	.|.	20.1086|20.1086	0.97902|0.97902	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	3013|.	Q70CQ2|.	UBP34_HUMAN|.	E|X	2861;3013|772	ENSP00000381577:Q3013E|.	ENSP00000263989:Q2861E|.	Q|S	-|-	1|2	0|0	USP34|USP34	61287408|61287408	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	9.869000|9.869000	0.99810|0.99810	2.756000|2.756000	0.94617|0.94617	0.563000|0.563000	0.77884|0.77884	CAG|TCA		0.378	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4				9	48	0	0	0	1	0	9	48		
WDPCP	51057	broad.mit.edu	37	2	63631244	63631244	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:63631244G>A	ENST00000272321.7	-	10	1901	c.1374C>T	c.(1372-1374)atC>atT	p.I458I	WDPCP_ENST00000409835.1_5'UTR|WDPCP_ENST00000409120.1_Silent_p.I266I|WDPCP_ENST00000409562.3_Silent_p.I458I|WDPCP_ENST00000409199.1_Silent_p.I266I|WDPCP_ENST00000398544.3_Silent_p.I299I	NM_015910.5	NP_056994.3	O95876	FRITZ_HUMAN	WD repeat containing planar cell polarity effector	458					auditory receptor cell morphogenesis (GO:0002093)|camera-type eye development (GO:0043010)|cardiovascular system development (GO:0072358)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|digestive system development (GO:0055123)|embryonic digit morphogenesis (GO:0042733)|establishment of protein localization (GO:0045184)|glomerular visceral epithelial cell migration (GO:0090521)|kidney development (GO:0001822)|palate development (GO:0060021)|regulation of embryonic cell shape (GO:0016476)|regulation of establishment of cell polarity (GO:2000114)|regulation of fibroblast migration (GO:0010762)|regulation of focal adhesion assembly (GO:0051893)|regulation of protein localization (GO:0032880)|regulation of ruffle assembly (GO:1900027)|respiratory system development (GO:0060541)|septin cytoskeleton organization (GO:0032185)|smoothened signaling pathway (GO:0007224)	axonemal basal plate (GO:0097541)|axoneme (GO:0005930)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)		p.I458M(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						GGAGATCATAGATATCACTAC	0.393																																						uc002sch.2		NaN																	1	Substitution - Missense(1)		lung(1)		0						c.(1372-1374)ATC>ATT		hypothetical protein LOC51057 isoform 2							102.0	96.0	98.0					2																	63631244		1887	4113	6000	SO:0001819	synonymous_variant	51057				cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization	cilium axoneme|cytoplasm|cytoskeleton|plasma membrane		g.chr2:63631244G>A		CCDS42688.1, CCDS46301.1	2p15	2014-04-24	2011-02-01	2011-02-01	ENSG00000143951	ENSG00000143951			28027	protein-coding gene	gene with protein product		613580	"""chromosome 2 open reading frame 86"""	C2orf86		15654087, 20671153	Standard	NM_015910		Approved	hFrtz, fritz, BBS15	uc002sch.3	O95876	OTTHUMG00000152566	ENST00000272321.7:c.1374C>T	2.37:g.63631244G>A						C2orf86_uc002sce.2_RNA|C2orf86_uc002scf.2_Silent_p.I299I|C2orf86_uc010ypu.1_RNA|C2orf86_uc002scg.2_Silent_p.I266I|C2orf86_uc002sci.1_Silent_p.I434I|C2orf86_uc010fcr.1_Silent_p.I348I	p.I458I	NM_015910	NP_056994	O95876	FRITZ_HUMAN			10	1820	-			458					Q53RW4|Q7Z2Z3	Silent	SNP	ENST00000272321.7	37	c.1374C>T	CCDS42688.1																																																																																				0.393	WDPCP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326820.1		NM_015910		113	55	0	0	0	1	0	113	55		
UGP2	7360	broad.mit.edu	37	2	64112904	64112904	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:64112904G>C	ENST00000337130.5	+	6	1233	c.757G>C	c.(757-759)Gat>Cat	p.D253H	ACA59_ENST00000515966.1_RNA|UGP2_ENST00000394417.2_Missense_Mutation_p.D242H|UGP2_ENST00000467648.2_Missense_Mutation_p.D242H|UGP2_ENST00000487469.1_3'UTR|UGP2_ENST00000445915.2_Missense_Mutation_p.D262H	NM_006759.3	NP_006750.3	Q16851	UGPA_HUMAN	UDP-glucose pyrophosphorylase 2	253					carbohydrate metabolic process (GO:0005975)|cellular glucuronidation (GO:0052695)|glucose 1-phosphate metabolic process (GO:0019255)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|small molecule metabolic process (GO:0044281)|UDP-glucose metabolic process (GO:0006011)|UDP-glucuronate biosynthetic process (GO:0006065)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	glucose binding (GO:0005536)|metal ion binding (GO:0046872)|pyrimidine ribonucleotide binding (GO:0032557)|UTP:glucose-1-phosphate uridylyltransferase activity (GO:0003983)			endometrium(2)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)	18						GTCTAACATAGATAATCTGGG	0.388																																						uc002scm.2		NaN																	0					0						c.(757-759)GAT>CAT		UDP-glucose pyrophosphorylase 2 isoform a							129.0	131.0	131.0					2																	64112904		2203	4300	6503	SO:0001583	missense	7360				glycogen biosynthetic process|phosphorylation|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	metal ion binding|protein binding|UTP:glucose-1-phosphate uridylyltransferase activity	g.chr2:64112904G>C		CCDS1875.1, CCDS42690.1	2p14-p13	2012-10-02			ENSG00000169764	ENSG00000169764	2.7.7.9		12527	protein-coding gene	gene with protein product		191760	"""UDP-glucose pyrophosphorylase 1"""	UGP1			Standard	NM_006759		Approved	UGPP1	uc002scm.3	Q16851	OTTHUMG00000129513	ENST00000337130.5:c.757G>C	2.37:g.64112904G>C	ENSP00000338703:p.Asp253His					UGP2_uc002scl.2_Missense_Mutation_p.D242H|UGP2_uc010ypx.1_Missense_Mutation_p.D262H	p.D253H	NM_006759	NP_006750	Q16851	UGPA_HUMAN			6	1063	+			253				Magnesium (By similarity).	Q07131|Q0P6K2|Q86Y81|Q9BU15	Missense_Mutation	SNP	ENST00000337130.5	37	c.757G>C	CCDS1875.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.028335	0.93518	.	.	ENSG00000169764	ENST00000394417;ENST00000467648;ENST00000337130;ENST00000445915	T;T;T;T	0.35789	1.29;1.29;1.29;1.29	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.74442	0.3717	H	0.95884	3.735	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.82404	-0.0474	10	0.87932	D	0	-10.5623	20.0545	0.97645	0.0:0.0:1.0:0.0	.	262;253	E7EUC7;Q16851	.;UGPA_HUMAN	H	242;242;253;262	ENSP00000377939:D242H;ENSP00000420793:D242H;ENSP00000338703:D253H;ENSP00000411803:D262H	ENSP00000338703:D253H	D	+	1	0	UGP2	63966408	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.748000	0.94277	0.655000	0.94253	GAT		0.388	UGP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251688.1		NM_006759		31	172	0	0	0	1	0	31	172		
ATP6V1B1	525	broad.mit.edu	37	2	71189921	71189921	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:71189921T>C	ENST00000234396.4	+	9	873	c.800T>C	c.(799-801)aTc>aCc	p.I267T	AC007040.11_ENST00000606025.1_Intron|ATP6V1B1_ENST00000412314.1_Missense_Mutation_p.I267T|RN7SL160P_ENST00000468558.2_RNA	NM_001692.3	NP_001683.2	P15313	VATB1_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1	267					ATP hydrolysis coupled proton transport (GO:0015991)|ATP metabolic process (GO:0046034)|calcium ion homeostasis (GO:0055074)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|pH reduction (GO:0045851)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	ATP binding (GO:0005524)|hydrogen ion transmembrane transporter activity (GO:0015078)|hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances (GO:0016820)			endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						GAGCGGATCATCACCCCGCGC	0.587																																						uc002shj.2		NaN																	0				skin(1)	1						c.(799-801)ATC>ACC		ATPase, H+ transporting, lysosomal 56/58kDa, V1							117.0	102.0	107.0					2																	71189921		2203	4300	6503	SO:0001583	missense	525				ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport	apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	g.chr2:71189921T>C	AF107466	CCDS1912.1	2p13	2010-04-21	2008-07-31	2002-05-10	ENSG00000116039	ENSG00000116039	3.6.3.14	"""ATPases / V-type"""	853	protein-coding gene	gene with protein product	"""Renal tubular acidosis with deafness"""	192132	"""vacuolar proton pump 3"""	VPP3, ATP6B1		9916796, 2527371	Standard	XM_005264368		Approved	VATB, RTA1B, Vma2	uc002shj.3	P15313	OTTHUMG00000129711	ENST00000234396.4:c.800T>C	2.37:g.71189921T>C	ENSP00000234396:p.Ile267Thr					ATP6V1B1_uc010fdv.2_Missense_Mutation_p.I267T|ATP6V1B1_uc010fdw.2_RNA|ATP6V1B1_uc010fdx.2_Missense_Mutation_p.I225T	p.I267T	NM_001692	NP_001683	P15313	VATB1_HUMAN			9	887	+			267					Q53FY0|Q6P4H6	Missense_Mutation	SNP	ENST00000234396.4	37	c.800T>C	CCDS1912.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.415911	0.83449	.	.	ENSG00000116039	ENST00000234396;ENST00000483246;ENST00000412314	T;T	0.79352	-1.26;-1.26	5.41	5.41	0.78517	ATPase, F1/V1/A1 complex, alpha/beta subunit, nucleotide-binding domain (1);	0.000000	0.64402	D	0.000002	D	0.84737	0.5538	M	0.73753	2.245	0.80722	D	1	P;D;P	0.53745	0.875;0.962;0.6	P;P;B	0.56916	0.809;0.809;0.363	D	0.86515	0.1812	10	0.66056	D	0.02	-19.0677	13.3939	0.60838	0.0:0.0:0.0:1.0	.	242;267;267	B4DWH7;C9JL73;P15313	.;.;VATB1_HUMAN	T	267;242;267	ENSP00000234396:I267T;ENSP00000388353:I267T	ENSP00000234396:I267T	I	+	2	0	ATP6V1B1	71043429	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	8.033000	0.88852	2.066000	0.61787	0.528000	0.53228	ATC		0.587	ATP6V1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251920.2		NM_001692		9	116	0	0	0	1	0	9	116		
DYSF	8291	broad.mit.edu	37	2	71791217	71791217	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:71791217C>T	ENST00000258104.3	+	24	2662	c.2385C>T	c.(2383-2385)atC>atT	p.I795I	DYSF_ENST00000410041.1_Silent_p.I813I|DYSF_ENST00000410020.3_Silent_p.I813I|DYSF_ENST00000413539.2_Silent_p.I826I|DYSF_ENST00000409744.1_Silent_p.I782I|DYSF_ENST00000394120.2_Silent_p.I796I|DYSF_ENST00000409582.3_Silent_p.I812I|DYSF_ENST00000409651.1_Silent_p.I827I|DYSF_ENST00000409762.1_Silent_p.I812I|DYSF_ENST00000429174.2_Silent_p.I795I|DYSF_ENST00000409366.1_Silent_p.I796I	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	795					plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						ACATCGTCATCTGGATGCTGC	0.642																																						uc002sie.2		NaN																	0				ovary(3)|breast(2)|pancreas(1)|skin(1)	7						c.(2383-2385)ATC>ATT		dysferlin isoform 8							87.0	83.0	84.0					2																	71791217		2203	4300	6503	SO:0001819	synonymous_variant	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71791217C>T	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.2385C>T	2.37:g.71791217C>T						DYSF_uc010feg.2_Silent_p.I826I|DYSF_uc010feh.2_Silent_p.I781I|DYSF_uc002sig.3_Silent_p.I781I|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Silent_p.I795I|DYSF_uc010fef.2_Silent_p.I812I|DYSF_uc010fei.2_Silent_p.I812I|DYSF_uc010fek.2_Silent_p.I813I|DYSF_uc010fej.2_Silent_p.I782I|DYSF_uc010fel.2_Silent_p.I782I|DYSF_uc010feo.2_Silent_p.I827I|DYSF_uc010fem.2_Silent_p.I796I|DYSF_uc010fen.2_Silent_p.I813I|DYSF_uc002sif.2_Silent_p.I796I	p.I795I	NM_003494	NP_003485	O75923	DYSF_HUMAN			24	2761	+			795			Cytoplasmic (Potential).		A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Silent	SNP	ENST00000258104.3	37	c.2385C>T	CCDS1918.1																																																																																				0.642	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3		NM_003494		28	118	0	0	0	1	0	28	118		
ALMS1	7840	broad.mit.edu	37	2	73675948	73675948	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:73675948C>T	ENST00000264448.6	+	8	2402	c.2291C>T	c.(2290-2292)tCa>tTa	p.S764L	ALMS1_ENST00000377715.1_Missense_Mutation_p.S764L|ALMS1_ENST00000409009.1_Missense_Mutation_p.S722L	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	764	34 X 47 AA approximate tandem repeat.				endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						AGTTCTTACTCACAAAGAGAA	0.458																																						uc002sje.1		NaN																	0				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						c.(2296-2298)TCA>TTA		Alstrom syndrome 1							146.0	146.0	146.0					2																	73675948		1882	4110	5992	SO:0001583	missense	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73675948C>T	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.2291C>T	2.37:g.73675948C>T	ENSP00000264448:p.Ser764Leu					ALMS1_uc002sjf.1_Missense_Mutation_p.S722L|ALMS1_uc002sjg.2_Missense_Mutation_p.S152L|ALMS1_uc002sjh.1_Missense_Mutation_p.S152L	p.S766L	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN			10	2408	+			764			5.|34 X 47 AA approximate tandem repeat.		Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	c.2297C>T	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	C	11.61	1.689056	0.29962	.	.	ENSG00000116127	ENST00000409009;ENST00000264448;ENST00000377715	T;T;T	0.28069	2.49;2.48;1.63	4.43	-1.88	0.07713	.	1.066060	0.07342	N	0.880936	T	0.22044	0.0531	L	0.50333	1.59	0.09310	N	1	B;B;B	0.26041	0.012;0.14;0.111	B;B;B	0.26517	0.011;0.07;0.041	T	0.31558	-0.9939	10	0.29301	T	0.29	.	0.9649	0.01403	0.1555:0.3267:0.1519:0.3659	.	764;722;764	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	L	722;764;764	ENSP00000386627:S722L;ENSP00000264448:S764L;ENSP00000366944:S764L	ENSP00000264448:S764L	S	+	2	0	ALMS1	73529456	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-0.359000	0.07632	-0.379000	0.07906	0.591000	0.81541	TCA		0.458	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1		NM_015120		134	215	0	0	0	1	0	134	215		
ALMS1	7840	broad.mit.edu	37	2	73676289	73676289	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:73676289C>T	ENST00000264448.6	+	8	2743	c.2632C>T	c.(2632-2634)Cat>Tat	p.H878Y	ALMS1_ENST00000377715.1_Missense_Mutation_p.H878Y|ALMS1_ENST00000409009.1_Missense_Mutation_p.H836Y	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	878	34 X 47 AA approximate tandem repeat.				endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						ACCCAATAGTCATCTAACTGA	0.478																																						uc002sje.1		NaN																	0				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						c.(2638-2640)CAT>TAT		Alstrom syndrome 1							90.0	94.0	93.0					2																	73676289		1878	4103	5981	SO:0001583	missense	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73676289C>T	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.2632C>T	2.37:g.73676289C>T	ENSP00000264448:p.His878Tyr					ALMS1_uc002sjf.1_Missense_Mutation_p.H836Y|ALMS1_uc002sjg.2_Missense_Mutation_p.H266Y|ALMS1_uc002sjh.1_Missense_Mutation_p.H266Y	p.H880Y	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN			10	2749	+			878			8.|34 X 47 AA approximate tandem repeat.		Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	c.2638C>T	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	C	13.81	2.348120	0.41599	.	.	ENSG00000116127	ENST00000409009;ENST00000264448;ENST00000377715	T;T;T	0.16073	3.25;3.25;2.37	3.66	1.78	0.24846	.	1.014600	0.07889	N	0.970780	T	0.29850	0.0746	L	0.46157	1.445	0.09310	N	1	D;D;D	0.76494	0.999;0.997;0.997	D;D;D	0.73380	0.956;0.938;0.98	T	0.14699	-1.0463	10	0.49607	T	0.09	.	4.1565	0.10263	0.2294:0.6487:0.0:0.1219	.	878;836;878	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	Y	836;878;878	ENSP00000386627:H836Y;ENSP00000264448:H878Y;ENSP00000366944:H878Y	ENSP00000264448:H878Y	H	+	1	0	ALMS1	73529797	0.000000	0.05858	0.006000	0.13384	0.372000	0.29890	-0.889000	0.04144	0.494000	0.27859	0.591000	0.81541	CAT		0.478	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1		NM_015120		54	98	0	0	0	1	0	54	98		
ALMS1	7840	broad.mit.edu	37	2	73677373	73677373	+	Nonsense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:73677373C>G	ENST00000264448.6	+	8	3827	c.3716C>G	c.(3715-3717)tCa>tGa	p.S1239*	ALMS1_ENST00000377715.1_Nonsense_Mutation_p.S1239*|ALMS1_ENST00000409009.1_Nonsense_Mutation_p.S1197*	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1239	34 X 47 AA approximate tandem repeat.				endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GCTTCTTACTCACACACAGAG	0.473																																						uc002sje.1		NaN																	0				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						c.(3721-3723)TCA>TGA		Alstrom syndrome 1							85.0	87.0	86.0					2																	73677373		1861	4112	5973	SO:0001587	stop_gained	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73677373C>G	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.3716C>G	2.37:g.73677373C>G	ENSP00000264448:p.Ser1239*					ALMS1_uc002sjf.1_Nonsense_Mutation_p.S1197*|ALMS1_uc002sjg.2_Nonsense_Mutation_p.S627*|ALMS1_uc002sjh.1_Nonsense_Mutation_p.S627*	p.S1241*	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN			10	3833	+			1239			15.|34 X 47 AA approximate tandem repeat.		Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Nonsense_Mutation	SNP	ENST00000264448.6	37	c.3722C>G	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	C	38	6.870585	0.97901	.	.	ENSG00000116127	ENST00000409009;ENST00000264448;ENST00000377715	.	.	.	4.44	0.634	0.17718	.	0.531065	0.16021	N	0.233309	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	4.0634	0.09849	0.0:0.5359:0.1744:0.2897	.	.	.	.	X	1197;1239;1239	.	ENSP00000264448:S1239X	S	+	2	0	ALMS1	73530881	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.012000	0.13287	0.098000	0.17522	-0.947000	0.02670	TCA		0.473	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1		NM_015120		70	129	0	0	0	1	0	70	129		
ALMS1	7840	broad.mit.edu	37	2	73677410	73677410	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:73677410C>T	ENST00000264448.6	+	8	3864	c.3753C>T	c.(3751-3753)gtC>gtT	p.V1251V	ALMS1_ENST00000377715.1_Silent_p.V1251V|ALMS1_ENST00000409009.1_Silent_p.V1209V	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1251	34 X 47 AA approximate tandem repeat.				endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						ACCAACAGGTCTTGCCAGATA	0.483																																						uc002sje.1		NaN																	0				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						c.(3757-3759)GTC>GTT		Alstrom syndrome 1							76.0	78.0	78.0					2																	73677410		1848	4092	5940	SO:0001819	synonymous_variant	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73677410C>T	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.3753C>T	2.37:g.73677410C>T						ALMS1_uc002sjf.1_Silent_p.V1209V|ALMS1_uc002sjg.2_Silent_p.V639V|ALMS1_uc002sjh.1_Silent_p.V639V	p.V1253V	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN			10	3870	+			1251			16.|34 X 47 AA approximate tandem repeat.		Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Silent	SNP	ENST00000264448.6	37	c.3759C>T	CCDS42697.1																																																																																				0.483	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1		NM_015120		72	114	0	0	0	1	0	72	114		
ALMS1	7840	broad.mit.edu	37	2	73677968	73677968	+	Missense_Mutation	SNP	C	C	G	rs541180403		TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:73677968C>G	ENST00000264448.6	+	8	4422	c.4311C>G	c.(4309-4311)ttC>ttG	p.F1437L	ALMS1_ENST00000377715.1_Missense_Mutation_p.F1437L|ALMS1_ENST00000409009.1_Missense_Mutation_p.F1395L	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1437	34 X 47 AA approximate tandem repeat.				endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CTGGTAGTTTCTACCAACAGG	0.488																																						uc002sje.1		NaN																	0				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						c.(4315-4317)TTC>TTG		Alstrom syndrome 1							122.0	123.0	122.0					2																	73677968		1868	4108	5976	SO:0001583	missense	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73677968C>G	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.4311C>G	2.37:g.73677968C>G	ENSP00000264448:p.Phe1437Leu					ALMS1_uc002sjf.1_Missense_Mutation_p.F1395L|ALMS1_uc002sjg.2_Missense_Mutation_p.F825L|ALMS1_uc002sjh.1_Missense_Mutation_p.F825L	p.F1439L	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN			10	4428	+			1437			19.|34 X 47 AA approximate tandem repeat.		Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	c.4317C>G	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	C	0.260	-1.000277	0.02128	.	.	ENSG00000116127	ENST00000409009;ENST00000264448;ENST00000377715	T;T;T	0.15487	3.14;3.14;2.42	4.2	-1.54	0.08584	.	0.705095	0.12349	N	0.476779	T	0.11836	0.0288	L	0.39898	1.24	0.09310	N	1	P;B;B	0.36712	0.566;0.003;0.003	B;B;B	0.40101	0.319;0.007;0.007	T	0.31364	-0.9946	10	0.16420	T	0.52	.	4.5495	0.12105	0.0:0.3487:0.17:0.4814	.	1437;1395;1437	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	L	1395;1437;1437	ENSP00000386627:F1395L;ENSP00000264448:F1437L;ENSP00000366944:F1437L	ENSP00000264448:F1437L	F	+	3	2	ALMS1	73531476	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-1.215000	0.02985	-0.334000	0.08463	0.591000	0.81541	TTC		0.488	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1		NM_015120		107	180	0	0	0	1	0	107	180		
ALMS1	7840	broad.mit.edu	37	2	73678719	73678719	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:73678719C>G	ENST00000264448.6	+	8	5173	c.5062C>G	c.(5062-5064)Ctg>Gtg	p.L1688V	ALMS1_ENST00000377715.1_Missense_Mutation_p.L1688V|ALMS1_ENST00000409009.1_Missense_Mutation_p.L1646V	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1688	34 X 47 AA approximate tandem repeat.				endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TGAAGAAGCTCTGAAAGTTCC	0.438																																						uc002sje.1		NaN																	0				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						c.(5068-5070)CTG>GTG		Alstrom syndrome 1							97.0	98.0	98.0					2																	73678719		1870	4099	5969	SO:0001583	missense	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73678719C>G	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.5062C>G	2.37:g.73678719C>G	ENSP00000264448:p.Leu1688Val					ALMS1_uc002sjf.1_Missense_Mutation_p.L1646V|ALMS1_uc002sjg.2_Missense_Mutation_p.L1076V|ALMS1_uc002sjh.1_Missense_Mutation_p.L1076V	p.L1690V	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN			10	5179	+			1688			25.|34 X 47 AA approximate tandem repeat.		Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	c.5068C>G	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	C	8.457	0.854494	0.17106	.	.	ENSG00000116127	ENST00000409009;ENST00000264448;ENST00000377715	T;T;T	0.16196	3.24;3.24;2.36	4.12	3.24	0.37175	.	0.371143	0.19628	N	0.109755	T	0.22898	0.0553	N	0.19112	0.55	0.09310	N	1	D;B;D	0.76494	0.969;0.095;0.999	P;B;D	0.85130	0.723;0.09;0.997	T	0.02326	-1.1176	10	0.56958	D	0.05	.	7.8782	0.29605	0.0:0.8888:0.0:0.1112	.	1688;1646;1688	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	V	1646;1688;1688	ENSP00000386627:L1646V;ENSP00000264448:L1688V;ENSP00000366944:L1688V	ENSP00000264448:L1688V	L	+	1	2	ALMS1	73532227	0.000000	0.05858	0.007000	0.13788	0.130000	0.20726	-0.694000	0.05115	1.323000	0.45263	0.563000	0.77884	CTG		0.438	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1		NM_015120		60	110	0	0	0	1	0	60	110		
ALMS1	7840	broad.mit.edu	37	2	73678860	73678860	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:73678860C>G	ENST00000264448.6	+	8	5314	c.5203C>G	c.(5203-5205)Ctg>Gtg	p.L1735V	ALMS1_ENST00000377715.1_Missense_Mutation_p.L1735V|ALMS1_ENST00000409009.1_Missense_Mutation_p.L1693V	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1735	34 X 47 AA approximate tandem repeat.				endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TCAAGAAGCTCTGAAAGTTTC	0.423																																						uc002sje.1		NaN																	0				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						c.(5209-5211)CTG>GTG		Alstrom syndrome 1							96.0	97.0	97.0					2																	73678860		1863	4107	5970	SO:0001583	missense	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73678860C>G	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.5203C>G	2.37:g.73678860C>G	ENSP00000264448:p.Leu1735Val					ALMS1_uc002sjf.1_Missense_Mutation_p.L1693V|ALMS1_uc002sjg.2_Missense_Mutation_p.L1123V|ALMS1_uc002sjh.1_Missense_Mutation_p.L1123V	p.L1737V	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN			10	5320	+			1735			34 X 47 AA approximate tandem repeat.|26.		Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	c.5209C>G	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	C	11.12	1.545054	0.27652	.	.	ENSG00000116127	ENST00000409009;ENST00000264448;ENST00000377715	T;T;T	0.15017	3.31;3.37;2.46	4.47	0.658	0.17855	.	0.719989	0.10733	N	0.640444	T	0.29620	0.0739	L	0.57536	1.79	0.09310	N	1	B;D;P	0.76494	0.118;0.999;0.724	B;D;B	0.65987	0.13;0.94;0.41	T	0.11817	-1.0572	10	0.52906	T	0.07	.	4.2513	0.10696	0.0:0.5517:0.1691:0.2792	.	1735;1693;1735	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	V	1693;1735;1735	ENSP00000386627:L1693V;ENSP00000264448:L1735V;ENSP00000366944:L1735V	ENSP00000264448:L1735V	L	+	1	2	ALMS1	73532368	0.000000	0.05858	0.001000	0.08648	0.069000	0.16628	-2.175000	0.01263	0.105000	0.17753	0.655000	0.94253	CTG		0.423	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1		NM_015120		75	120	0	0	0	1	0	75	120		
LOXL3	84695	broad.mit.edu	37	2	74761668	74761668	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:74761668C>G	ENST00000264094.3	-	10	1884	c.1813G>C	c.(1813-1815)Gag>Cag	p.E605Q	LOXL3_ENST00000409249.1_Intron|LOXL3_ENST00000409549.1_Missense_Mutation_p.E549Q|LOXL3_ENST00000393937.2_Missense_Mutation_p.E460Q|LOXL3_ENST00000409986.1_Missense_Mutation_p.E460Q	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3	605	Lysyl-oxidase like.				epithelial to mesenchymal transition (GO:0001837)|negative regulation of transcription, DNA-templated (GO:0045892)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|nucleus (GO:0005634)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)			endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						CCATGGCACTCGTGCCACACC	0.607																																						uc002smp.1		NaN																	0					0						c.(1813-1815)GAG>CAG		lysyl oxidase-like 3 precursor							42.0	43.0	43.0					2																	74761668		2203	4300	6503	SO:0001583	missense	84695					extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity	g.chr2:74761668C>G	AF282619	CCDS1953.1, CCDS74527.1	2p13	2008-05-23			ENSG00000115318	ENSG00000115318			13869	protein-coding gene	gene with protein product		607163				11386757	Standard	NM_032603		Approved		uc002smp.1	P58215	OTTHUMG00000129953	ENST00000264094.3:c.1813G>C	2.37:g.74761668C>G	ENSP00000264094:p.Glu605Gln					LOXL3_uc002smo.1_Missense_Mutation_p.E244Q|LOXL3_uc010ffm.1_Missense_Mutation_p.E549Q|LOXL3_uc002smq.1_Missense_Mutation_p.E460Q|LOXL3_uc010ffn.1_Missense_Mutation_p.E460Q	p.E605Q	NM_032603	NP_115992	P58215	LOXL3_HUMAN			10	1885	-			605			Lysyl-oxidase like.		D6W5J1|Q2EHP2|Q6IPL7|Q96RS1	Missense_Mutation	SNP	ENST00000264094.3	37	c.1813G>C	CCDS1953.1	.	.	.	.	.	.	.	.	.	.	C	10.62	1.402225	0.25291	.	.	ENSG00000115318	ENST00000264094;ENST00000393937;ENST00000409549;ENST00000409986	T;T;T;T	0.30714	1.52;1.52;1.52;1.52	5.02	5.02	0.67125	Lysyl oxidase, conserved site (1);	0.181277	0.47455	D	0.000230	T	0.23210	0.0561	N	0.02368	-0.58	0.53005	D	0.999968	D;P;B;P	0.69078	0.997;0.803;0.14;0.945	P;P;B;P	0.62491	0.903;0.715;0.124;0.782	T	0.07616	-1.0763	10	0.02654	T	1	.	16.2052	0.82122	0.0:1.0:0.0:0.0	.	460;549;460;605	B9A025;E7END4;Q6IPL7;P58215	.;.;.;LOXL3_HUMAN	Q	605;460;549;460	ENSP00000264094:E605Q;ENSP00000377512:E460Q;ENSP00000386696:E549Q;ENSP00000386545:E460Q	ENSP00000264094:E605Q	E	-	1	0	LOXL3	74615176	1.000000	0.71417	0.992000	0.48379	0.822000	0.46500	3.900000	0.56295	2.769000	0.95229	0.563000	0.77884	GAG		0.607	LOXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252215.1		NM_032603		18	13	0	0	0	1	0	18	13		
M1AP	130951	broad.mit.edu	37	2	74787419	74787419	+	Splice_Site	SNP	C	C	G	rs77403431		TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:74787419C>G	ENST00000290536.5	-	9	1398		c.e9-1		M1AP_ENST00000536235.1_Splice_Site|M1AP_ENST00000409585.1_Splice_Site|M1AP_ENST00000464686.1_Splice_Site|M1AP_ENST00000358434.2_Splice_Site	NM_001281296.1|NM_138804.3	NP_001268225.1|NP_620159.2	Q8TC57	M1AP_HUMAN	meiosis 1 associated protein						cell differentiation (GO:0030154)|chromatin assembly (GO:0031497)|female gamete generation (GO:0007292)|male meiosis chromosome separation (GO:0051308)|RNA processing (GO:0006396)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)											CCAGCATGCTCTGAGGAAAAG	0.547													c|||	1	0.000199681	0.0	0.0	5008	,	,		19670	0.001		0.0	False		,,,				2504	0.0					uc002smy.2		NaN																	0				ovary(1)|pancreas(1)	2						c.e9-1		hypothetical protein LOC130951							71.0	71.0	71.0					2																	74787419		2203	4300	6503	SO:0001630	splice_region_variant	130951				chromatin assembly|female gamete generation|RNA processing|spermatogenesis	integral to membrane		g.chr2:74787419C>G		CCDS33229.1, CCDS62941.1	2p13.1	2013-02-05	2013-02-05	2013-01-16	ENSG00000159374	ENSG00000159374			25183	protein-coding gene	gene with protein product	"""meiosis 1 arresting protein"", ""spermatogenesis associated 37"""		"""chromosome 2 open reading frame 65"""	C2orf65		16881047, 23269666	Standard	NM_138804		Approved	D6Mm5e, SPATA37	uc002smy.3	Q8TC57	OTTHUMG00000152918	ENST00000290536.5:c.1282-1G>C	2.37:g.74787419C>G						C2orf65_uc010ysa.1_Splice_Site_p.S428_splice|C2orf65_uc010ffp.2_Splice_Site_p.S77_splice|C2orf65_uc002smx.2_Splice_Site_p.S184_splice	p.S428_splice	NM_138804	NP_620159	Q8TC57	CB065_HUMAN			9	1399	-								B7Z6E7|E9PGG8|Q6ZP30|Q96L07	Splice_Site	SNP	ENST00000290536.5	37	c.1282_splice	CCDS33229.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	10.79	1.450806	0.26074	.	.	ENSG00000159374	ENST00000290536;ENST00000409585;ENST00000536235;ENST00000358434	.	.	.	5.23	4.34	0.51931	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.995	0.47571	0.1858:0.8142:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C2orf65	74640927	1.000000	0.71417	0.994000	0.49952	0.147000	0.21601	5.209000	0.65208	1.416000	0.47057	0.561000	0.74099	.		0.547	M1AP-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328569.1		NM_138804	Intron	8	52	0	0	0	1	0	8	52		
LRRTM1	347730	broad.mit.edu	37	2	80529574	80529574	+	Silent	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:80529574G>T	ENST00000295057.3	-	2	2027	c.1371C>A	c.(1369-1371)ctC>ctA	p.L457L	CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000541047.1_Intron|LRRTM1_ENST00000409148.1_Silent_p.L457L	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	457					exploration behavior (GO:0035640)|locomotory behavior (GO:0007626)|long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|protein localization to synapse (GO:0035418)|synapse organization (GO:0050808)	axon (GO:0030424)|cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						TGAGCTGCCTGAGGCTGGCTG	0.557										HNSCC(69;0.2)																												uc002sok.1		NaN																	0				ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						c.(1369-1371)CTC>CTA		leucine rich repeat transmembrane neuronal 1							105.0	92.0	97.0					2																	80529574		2203	4300	6503	SO:0001819	synonymous_variant	347730					axon|endoplasmic reticulum membrane|growth cone|integral to membrane		g.chr2:80529574G>T	AY358310	CCDS1966.1	2p12	2004-06-22			ENSG00000162951	ENSG00000162951			19408	protein-coding gene	gene with protein product		610867				12676565	Standard	XR_244930		Approved	FLJ32082	uc002sok.1	Q86UE6	OTTHUMG00000130021	ENST00000295057.3:c.1371C>A	2.37:g.80529574G>T		HNSCC(69;0.2)				CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA	p.L457L	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN			2	1641	-			457			Cytoplasmic (Potential).		A8K397|D6W5K1|Q96DN1	Silent	SNP	ENST00000295057.3	37	c.1371C>A	CCDS1966.1																																																																																				0.557	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313614.1		NM_178839		12	80	1	0	4.36969e-10	1	4.67295e-10	12	80		
POLR1A	25885	broad.mit.edu	37	2	86315961	86315961	+	Silent	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:86315961G>T	ENST00000263857.6	-	5	951	c.573C>A	c.(571-573)ctC>ctA	p.L191L	POLR1A_ENST00000409681.1_Silent_p.L191L			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	191					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						AGAGAGCAATGAGCTTGCTCT	0.448																																						uc002sqs.2		NaN																	0				ovary(2)|skin(1)	3						c.(571-573)CTC>CTA		DNA-directed RNA polymerase I A							129.0	125.0	126.0					2																	86315961		1969	4146	6115	SO:0001819	synonymous_variant	25885				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding	g.chr2:86315961G>T	AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"""RNA polymerase subunits"""	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.573C>A	2.37:g.86315961G>T						POLR1A_uc002sqv.2_Silent_p.L191L	p.L191L	NM_015425	NP_056240	O95602	RPA1_HUMAN			5	952	-			191					B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Silent	SNP	ENST00000263857.6	37	c.573C>A	CCDS42706.1																																																																																				0.448	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329830.2		NM_015425		19	91	1	0	2.35188e-11	1	2.53913e-11	19	91		
KDM3A	55818	broad.mit.edu	37	2	86718100	86718100	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:86718100C>G	ENST00000409556.1	+	25	4035	c.3670C>G	c.(3670-3672)Caa>Gaa	p.Q1224E	KDM3A_ENST00000542128.1_Missense_Mutation_p.Q1172E|KDM3A_ENST00000312912.5_Missense_Mutation_p.Q1224E|KDM3A_ENST00000409064.1_Missense_Mutation_p.Q1224E			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	1224	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				androgen receptor signaling pathway (GO:0030521)|formaldehyde biosynthetic process (GO:0046293)|histone H3-K9 demethylation (GO:0033169)|histone H3-K9 dimethylation (GO:0036123)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of histone H3-K9 methylation (GO:0051573)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatid nucleus elongation (GO:0007290)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|dioxygenase activity (GO:0051213)|iron ion binding (GO:0005506)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						ACGTCTTCATCAAGAGTATGG	0.438																																					NSCLC(96;1150 1523 6936 46253 49736)	uc002sri.3		NaN																	0				breast(2)|ovary(1)|central_nervous_system(1)|skin(1)	5						c.(3670-3672)CAA>GAA		jumonji domain containing 1A							117.0	110.0	112.0					2																	86718100		2203	4300	6503	SO:0001583	missense	55818				androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr2:86718100C>G	AB018285	CCDS1990.1	2p11.2	2011-07-01	2009-04-06	2009-04-06	ENSG00000115548	ENSG00000115548		"""Chromatin-modifying enzymes / K-demethylases"""	20815	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 2A"""	611512	"""jumonji domain containing 1"", ""jumonji domain containing 1A"""	JMJD1, JMJD1A		9872452	Standard	NM_018433		Approved	TSGA, KIAA0742, JHMD2A	uc010ytj.2	Q9Y4C1	OTTHUMG00000130204	ENST00000409556.1:c.3670C>G	2.37:g.86718100C>G	ENSP00000386660:p.Gln1224Glu					KDM3A_uc010ytj.1_Missense_Mutation_p.Q1224E|KDM3A_uc010ytk.1_Missense_Mutation_p.Q1172E	p.Q1224E	NM_018433	NP_060903	Q9Y4C1	KDM3A_HUMAN			24	3997	+			1224			JmjC.		D6W5M3|Q53S72|Q68D47|Q68UT9|Q6N050|Q8IY08	Missense_Mutation	SNP	ENST00000409556.1	37	c.3670C>G	CCDS1990.1	.	.	.	.	.	.	.	.	.	.	C	5.087	0.201782	0.09652	.	.	ENSG00000115548	ENST00000409556;ENST00000540058;ENST00000312912;ENST00000409064;ENST00000542128	T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.36	4.75	4.75	0.60458	Transcription factor jumonji/aspartyl beta-hydroxylase (2);Transcription factor jumonji (1);	0.000000	0.64402	D	0.000004	T	0.35307	0.0927	N	0.00395	-1.55	0.50467	D	0.999873	B;B	0.28470	0.207;0.213	B;B	0.37091	0.111;0.241	T	0.52275	-0.8597	10	0.02654	T	1	.	17.1005	0.86648	0.0:1.0:0.0:0.0	.	1172;1224	F5H070;Q9Y4C1	.;KDM3A_HUMAN	E	1224;1224;1224;1224;1172	ENSP00000386660:Q1224E;ENSP00000323659:Q1224E;ENSP00000386516:Q1224E;ENSP00000438324:Q1172E	ENSP00000323659:Q1224E	Q	+	1	0	KDM3A	86571611	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.524000	0.53495	2.356000	0.79943	0.655000	0.94253	CAA		0.438	KDM3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252522.2		NM_018433		62	43	0	0	0	1	0	62	43		
RNF103	7844	broad.mit.edu	37	2	86832071	86832071	+	Nonsense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:86832071G>C	ENST00000237455.4	-	4	1921	c.953C>G	c.(952-954)tCa>tGa	p.S318*	RNF103-CHMP3_ENST00000604011.1_Intron|CHMP3_ENST00000439940.2_Intron|AC015971.2_ENST00000424788.1_RNA|RNF103_ENST00000477307.1_5'UTR|AC015971.2_ENST00000597638.1_RNA|AC015971.2_ENST00000426549.1_RNA|AC015971.2_ENST00000439077.1_RNA	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN	ring finger protein 103	318					central nervous system development (GO:0007417)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						GGGTTGTAATGAGCGCAAAAA	0.388																																						uc002srn.2		NaN																	0				central_nervous_system(1)	1						c.(952-954)TCA>TGA		ring finger protein 103							100.0	110.0	106.0					2																	86832071		2203	4300	6503	SO:0001587	stop_gained	7844				central nervous system development|ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:86832071G>C	D76444	CCDS33237.1	2p11.2	2013-01-09	2003-05-14	2003-05-16	ENSG00000239305	ENSG00000239305		"""RING-type (C3HC4) zinc fingers"""	12859	protein-coding gene	gene with protein product		602507	"""zinc finger protein 103 homolog (mouse)"""	ZFP103		9070305	Standard	NM_005667		Approved	hkf-1, KF1	uc021vkg.1	O00237	OTTHUMG00000153197	ENST00000237455.4:c.953C>G	2.37:g.86832071G>C	ENSP00000237455:p.Ser318*					VPS24_uc010ytl.1_Intron|RNF103_uc002srm.2_Nonsense_Mutation_p.S179*|uc002sro.2_Intron	p.S318*	NM_005667	NP_005658	O00237	RN103_HUMAN			4	1922	-			318					A6NFV6|B2RAG4|Q53SU6|Q8IVB9	Nonsense_Mutation	SNP	ENST00000237455.4	37	c.953C>G	CCDS33237.1	.	.	.	.	.	.	.	.	.	.	G	44	11.123322	0.99519	.	.	ENSG00000239305	ENST00000237455	.	.	.	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-9.9653	18.8478	0.92213	0.0:0.0:1.0:0.0	.	.	.	.	X	318	.	ENSP00000237455:S318X	S	-	2	0	RNF103	86685582	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.700000	0.84556	2.468000	0.83385	0.460000	0.39030	TCA		0.388	RNF103-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330041.2		NM_005667		21	122	0	0	0	1	0	21	122		
LMAN2L	81562	broad.mit.edu	37	2	97369274	97369274	+	IGR	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:97369274G>A	ENST00000264963.4	-	0	2397				FER1L5_ENST00000457909.1_RNA	NM_030805.3	NP_110432.1	Q9H0V9	LMA2L_HUMAN	lectin, mannose-binding 2-like						ER to Golgi vesicle-mediated transport (GO:0006888)|protein folding (GO:0006457)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	mannose binding (GO:0005537)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(1)|lung(2)|skin(1)|urinary_tract(1)	7						AGGTGAAGATGAGCCTGGAGA	0.572																																						uc010fia.2		NaN																	0				ovary(1)	1						c.(5812-5814)ATG>ATA		fer-1-like 5 isoform 2							54.0	59.0	58.0					2																	97369274		1954	4146	6100	SO:0001628	intergenic_variant	90342					integral to membrane		g.chr2:97369274G>A	AL136617	CCDS2023.1, CCDS46365.1	2q11.1	2008-02-05			ENSG00000114988	ENSG00000114988			19263	protein-coding gene	gene with protein product		609552				12609988	Standard	NM_001142292		Approved	DKFZp564L2423, VIPL	uc002swv.3	Q9H0V9	OTTHUMG00000130453		2.37:g.97369274G>A						FER1L5_uc002sws.3_Missense_Mutation_p.M647I|FER1L5_uc002swt.3_Missense_Mutation_p.M647I|FER1L5_uc010yus.1_Missense_Mutation_p.M646I	p.M1938I	NM_001113382	NP_001106853	A0AVI2	FR1L5_HUMAN			50	5814	+			1938					B4DSH3|D3DXH6|Q53GV3|Q53S67|Q63HN6|Q8NBQ6|Q9BQ14	Missense_Mutation	SNP	ENST00000264963.4	37	c.5814G>A	CCDS2023.1	.	.	.	.	.	.	.	.	.	.	G	13.63	2.295098	0.40594	.	.	ENSG00000214272	ENST00000414152;ENST00000436930;ENST00000397978	.	.	.	5.67	4.74	0.60224	.	0.168596	0.28332	U	0.015736	T	0.65749	0.2721	L	0.58969	1.84	.	.	.	P;P;D	0.55800	0.954;0.517;0.973	P;B;P	0.53593	0.541;0.23;0.73	T	0.74948	-0.3490	8	0.72032	D	0.01	-35.1718	15.0472	0.71835	0.0:0.1428:0.8572:0.0	.	646;1938;647	B7ZLI3;A0AVI2;A0AVI2-2	.;FR1L5_HUMAN;.	I	1938;1942;647	.	ENSP00000442027:M647I	M	+	3	0	FER1L5	96733001	1.000000	0.71417	0.999000	0.59377	0.788000	0.44548	6.311000	0.72835	2.676000	0.91093	0.655000	0.94253	ATG		0.572	LMAN2L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252844.1		NM_030805		4	57	0	0	0	1	0	4	57		
CNNM4	26504	broad.mit.edu	37	2	97427901	97427901	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:97427901G>A	ENST00000377075.2	+	1	1263	c.1165G>A	c.(1165-1167)Gat>Aat	p.D389N		NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 4	389	CBS 1. {ECO:0000255|PROSITE- ProRule:PRU00703}.				biomineral tissue development (GO:0031214)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						GATCCGCAGCGATGCCATCCT	0.498																																						uc002swx.2		NaN																	0				breast(2)|ovary(1)	3						c.(1165-1167)GAT>AAT		cyclin M4							102.0	89.0	94.0					2																	97427901		2203	4300	6503	SO:0001583	missense	26504				biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane		g.chr2:97427901G>A	AB046812	CCDS2024.2	2q11.2	2014-08-08	2014-08-07		ENSG00000158158	ENSG00000158158			105	protein-coding gene	gene with protein product		607805	"""cyclin M4"""	ACDP4		21393841, 24194943	Standard	XM_005263914		Approved	KIAA1592	uc002swx.3	Q6P4Q7	OTTHUMG00000130532	ENST00000377075.2:c.1165G>A	2.37:g.97427901G>A	ENSP00000366275:p.Asp389Asn						p.D389N	NM_020184	NP_064569	Q6P4Q7	CNNM4_HUMAN			1	1263	+			389			CBS 1.		B7Z1U0|C7SQM3|C7SQM4|C7SQM5|Q53RE5|Q9H9G3|Q9HCI0|Q9NRN1	Missense_Mutation	SNP	ENST00000377075.2	37	c.1165G>A	CCDS2024.2	.	.	.	.	.	.	.	.	.	.	G	24.5	4.537473	0.85917	.	.	ENSG00000158158	ENST00000377075	T	0.78816	-1.21	4.91	4.91	0.64330	Cystathionine beta-synthase, core (1);	0.058664	0.64402	D	0.000004	T	0.66025	0.2748	L	0.38649	1.16	0.80722	D	1	P	0.43607	0.812	B	0.32624	0.149	T	0.67902	-0.5550	10	0.30078	T	0.28	-23.1686	16.8923	0.86090	0.0:0.0:1.0:0.0	.	389	Q6P4Q7	CNNM4_HUMAN	N	389	ENSP00000366275:D389N	ENSP00000366275:D389N	D	+	1	0	CNNM4	96791628	1.000000	0.71417	0.898000	0.35279	0.970000	0.65996	9.807000	0.99171	2.265000	0.75225	0.655000	0.94253	GAT		0.498	CNNM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252954.1		NM_020184		12	89	0	0	0	1	0	12	89		
ANKRD36	375248	broad.mit.edu	37	2	97866080	97866080	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:97866080G>A	ENST00000461153.2	+	45	3009	c.2765G>A	c.(2764-2766)cGg>cAg	p.R922Q	ANKRD36_ENST00000420699.2_Missense_Mutation_p.R922Q			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	922										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						GTGTCTTCTCGGAAAAAACCA	0.338																																						uc010yva.1		NaN																	0					0						c.(2764-2766)CGG>CAG		ankyrin repeat domain 36							224.0	213.0	216.0					2																	97866080		692	1591	2283	SO:0001583	missense	375248							g.chr2:97866080G>A	BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"""Ankyrin repeat domain containing"""	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.2765G>A	2.37:g.97866080G>A	ENSP00000419530:p.Arg922Gln					ANKRD36_uc002sxo.2_Missense_Mutation_p.R338Q|ANKRD36_uc002sxp.3_RNA|ANKRD36_uc002sxq.1_RNA	p.R922Q	NM_001164315	NP_001157787	A6QL64	AN36A_HUMAN			45	3009	+			922					B4E3I8|Q6UX02|Q86X62|Q9HCD1	Missense_Mutation	SNP	ENST00000461153.2	37	c.2765G>A	CCDS54379.1	.	.	.	.	.	.	.	.	.	.	.	0.013	-1.641655	0.00799	.	.	ENSG00000135976	ENST00000461153;ENST00000420699;ENST00000393513;ENST00000461694	T;T	0.78003	-1.14;-1.14	0.42	-0.841	0.10752	.	.	.	.	.	T	0.63165	0.2488	N	0.14661	0.345	0.09310	N	1	D;B	0.55800	0.973;0.003	P;B	0.55615	0.78;0.0	T	0.55860	-0.8074	8	0.02654	T	1	.	.	.	.	.	922;338	A6QL64;F2Z332	AN36A_HUMAN;.	Q	922;922;338;284	ENSP00000419530:R922Q;ENSP00000391950:R922Q	ENSP00000377149:R338Q	R	+	2	0	ANKRD36	97229807	0.471000	0.25862	0.001000	0.08648	0.003000	0.03518	-0.019000	0.12546	-0.826000	0.04284	-1.252000	0.01501	CGG		0.338	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339154.5				13	85	0	0	0	1	0	13	85		
RANBP2	5903	broad.mit.edu	37	2	109388219	109388219	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:109388219C>T	ENST00000283195.6	+	21	8038	c.7912C>T	c.(7912-7914)Cta>Tta	p.L2638L		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2638	2 X 50 AA approximate repeats.|Interaction with UBE2I.|Required for E3 SUMO-ligase activity.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TGTATATGAACTAACTCCAAC	0.373																																						uc002tem.3		NaN																RANBP2/ALK(16)	0				soft_tissue(16)|lung(1)|pancreas(1)	18						c.(7912-7914)CTA>TTA		RAN binding protein 2							187.0	203.0	197.0					2																	109388219		2203	4300	6503	SO:0001819	synonymous_variant	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109388219C>T	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.7912C>T	2.37:g.109388219C>T							p.L2638L	NM_006267	NP_006258	P49792	RBP2_HUMAN			21	8038	+			2638			Required for E3 SUMO-ligase activity.|1.|Interaction with UBE2I.|2 X 50 AA approximate repeats.		Q13074|Q15280|Q53TE2|Q59FH7	Silent	SNP	ENST00000283195.6	37	c.7912C>T	CCDS2079.1																																																																																				0.373	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1		NM_006267		32	191	0	0	0	1	0	32	191		
RABL2A	11159	broad.mit.edu	37	2	114399013	114399013	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:114399013A>G	ENST00000393167.3	+	7	715	c.490A>G	c.(490-492)Acc>Gcc	p.T164A	RABL2A_ENST00000376439.3_Missense_Mutation_p.T101A|RABL2A_ENST00000478880.1_3'UTR|RABL2A_ENST00000409875.1_Missense_Mutation_p.T164A|RABL2A_ENST00000409842.1_Missense_Mutation_p.T101A|RABL2A_ENST00000393165.3_Missense_Mutation_p.T165A|RABL2A_ENST00000393166.3_Missense_Mutation_p.T164A	NM_013412.2	NP_038198.1	Q9UBK7	RBL2A_HUMAN	RAB, member of RAS oncogene family-like 2A	164					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)		GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|stomach(3)	9						TGCTGATGGTACCAATGTTGT	0.498																																						uc002tkn.3		NaN																	0				skin(1)	1						c.(490-492)ACC>GCC		RAB, member of RAS oncogene family-like 2A							62.0	65.0	64.0					2																	114399013		2202	4280	6482	SO:0001583	missense	11159				small GTPase mediated signal transduction		GTP binding|GTPase activity	g.chr2:114399013A>G		CCDS2118.1	2q13	2014-05-09			ENSG00000144134	ENSG00000144134		"""RAB, member RAS oncogene"""	9799	protein-coding gene	gene with protein product		605412				10444334	Standard	NM_007082		Approved		uc010flb.3	Q9UBK7	OTTHUMG00000047828	ENST00000393167.3:c.490A>G	2.37:g.114399013A>G	ENSP00000376872:p.Thr164Ala					RABL2A_uc010flb.2_Missense_Mutation_p.T164A|RABL2A_uc002tkl.3_Missense_Mutation_p.T83A|RABL2A_uc002tkm.3_Missense_Mutation_p.T101A|RABL2A_uc002tks.3_Missense_Mutation_p.T165A|RABL2A_uc002tkr.2_Missense_Mutation_p.T165A|RABL2A_uc002tkp.3_Missense_Mutation_p.T165A	p.T164A	NM_007082	NP_009013	Q9UBK7	RBL2A_HUMAN			7	704	+			164					B7ZBD6|Q9NU37	Missense_Mutation	SNP	ENST00000393167.3	37	c.490A>G	CCDS2118.1	.	.	.	.	.	.	.	.	.	.	A	11.07	1.530090	0.27387	.	.	ENSG00000144134	ENST00000393167;ENST00000409842;ENST00000393165;ENST00000393166;ENST00000409875;ENST00000376439	T;T;T;T;T;T	0.80393	-1.37;-1.37;-1.37;-1.37;-1.37;-1.37	3.14	1.99	0.26369	Small GTP-binding protein domain (1);	0.085714	0.85682	D	0.000000	D	0.84147	0.5408	M	0.68728	2.09	0.43390	D	0.995506	P;P;P;D;P	0.76494	0.843;0.726;0.937;0.999;0.811	P;P;P;D;P	0.73708	0.838;0.566;0.893;0.981;0.749	T	0.80817	-0.1213	10	0.32370	T	0.25	.	5.9501	0.19242	0.8618:0.0:0.1382:0.0	.	165;165;164;101;165	Q6IC14;A0AUY0;Q9UBK7;B7ZBD5;Q9UBK7-2	.;.;RBL2A_HUMAN;.;.	A	164;101;165;164;164;101	ENSP00000376872:T164A;ENSP00000386460:T101A;ENSP00000376870:T165A;ENSP00000376871:T164A;ENSP00000387229:T164A;ENSP00000365622:T101A	ENSP00000365622:T101A	T	+	1	0	RABL2A	114115483	1.000000	0.71417	0.962000	0.40283	0.082000	0.17680	6.361000	0.73070	1.404000	0.46819	0.414000	0.27820	ACC		0.498	RABL2A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000109047.2				22	71	0	0	0	1	0	22	71		
CNTNAP5	129684	broad.mit.edu	37	2	125405445	125405445	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:125405445G>A	ENST00000431078.1	+	13	2348	c.1984G>A	c.(1984-1986)Gaa>Aaa	p.E662K		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	662	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GGGCAGCATGGAACAGCTGGA	0.627																																						uc002tno.2		NaN																	0				ovary(10)	10						c.(1984-1986)GAA>AAA		contactin associated protein-like 5 precursor							34.0	38.0	37.0					2																	125405445		2105	4213	6318	SO:0001583	missense	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125405445G>A	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.1984G>A	2.37:g.125405445G>A	ENSP00000399013:p.Glu662Lys					CNTNAP5_uc010flu.2_Missense_Mutation_p.E663K	p.E662K	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	13	2348	+			662			Extracellular (Potential).|Fibrinogen C-terminal.		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	c.1984G>A	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.338688	0.81911	.	.	ENSG00000155052	ENST00000431078	T	0.14144	2.53	5.2	4.32	0.51571	.	0.382971	0.21593	N	0.072070	T	0.19208	0.0461	M	0.78916	2.43	0.58432	D	0.999999	B	0.32573	0.376	B	0.30855	0.121	T	0.02167	-1.1202	10	0.39692	T	0.17	.	13.2541	0.60068	0.0771:0.0:0.9229:0.0	.	662	Q8WYK1	CNTP5_HUMAN	K	662	ENSP00000399013:E662K	ENSP00000399013:E662K	E	+	1	0	CNTNAP5	125121915	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.705000	0.98719	1.329000	0.45376	0.561000	0.74099	GAA		0.627	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3				4	11	0	0	0	1	0	4	11		
ERCC3	2071	broad.mit.edu	37	2	128016992	128016992	+	Silent	SNP	T	T	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:128016992T>C	ENST00000285398.2	-	14	2191	c.2097A>G	c.(2095-2097)gaA>gaG	p.E699E	ERCC3_ENST00000493187.2_Silent_p.E635E	NM_000122.1	NP_000113.1	P19447	ERCC3_HUMAN	excision repair cross-complementation group 3	699	Asp/Glu-rich (acidic).|Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				7-methylguanosine mRNA capping (GO:0006370)|apoptotic process (GO:0006915)|DNA repair (GO:0006281)|DNA topological change (GO:0006265)|gene expression (GO:0010467)|hair cell differentiation (GO:0035315)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA duplex unwinding (GO:0000717)|nucleotide-excision repair, DNA incision (GO:0033683)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein localization (GO:0008104)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|response to UV (GO:0009411)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)|viral process (GO:0016032)	holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' DNA helicase activity (GO:0043138)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|damaged DNA binding (GO:0003684)|dATP binding (GO:0032564)|DNA binding (GO:0003677)|GTP binding (GO:0005525)|peptide binding (GO:0042277)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		ACGCCAAGTCTTCCTCCTCCA	0.572			"""Mis, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													uc002toh.1		NaN	yes	Rec		Xeroderma pigmentosum (B)	2	2q21	2071	Mis|S	"""excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing)"""			E		skin basal cell|skin squamous cell|melanoma			0				ovary(2)|lung(2)|breast(2)|kidney(1)	7						c.(2095-2097)GAA>GAG	Direct_reversal_of_damage|NER	excision repair cross-complementing rodent							136.0	136.0	136.0					2																	128016992		2203	4300	6503	SO:0001819	synonymous_variant	2071	Xeroderma_Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding	g.chr2:128016992T>C	M31899	CCDS2144.1	2q21	2014-09-17	2014-03-07		ENSG00000163161	ENSG00000163161		"""General transcription factors"", ""General transcription factor IIH complex subunits"""	3435	protein-coding gene	gene with protein product	"""xeroderma pigmentosum group B complementing"""	133510	"""excision repair cross-complementing rodent repair deficiency, complementation group 3"""			8202161	Standard	NM_000122		Approved	XPB, BTF2, RAD25, TFIIH, GTF2H	uc002toh.1	P19447	OTTHUMG00000131530	ENST00000285398.2:c.2097A>G	2.37:g.128016992T>C						ERCC3_uc002toe.1_Silent_p.E454E|ERCC3_uc002tof.1_Silent_p.E635E|ERCC3_uc002tog.1_Silent_p.E635E	p.E699E	NM_000122	NP_000113	P19447	ERCC3_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.073)	14	2192	-	Colorectal(110;0.1)		699			Asp/Glu-rich (acidic).|Helicase C-terminal.		Q53QM0	Silent	SNP	ENST00000285398.2	37	c.2097A>G	CCDS2144.1																																																																																				0.572	ERCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331028.1		NM_000122		39	66	0	0	0	1	0	39	66		
MYO7B	4648	broad.mit.edu	37	2	128367562	128367562	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:128367562C>G	ENST00000409816.2	+	23	3195	c.3163C>G	c.(3163-3165)Cag>Gag	p.Q1055E	MYO7B_ENST00000389524.4_Missense_Mutation_p.Q1055E|MYO7B_ENST00000428314.1_Missense_Mutation_p.Q1055E			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1055	MyTH4 1. {ECO:0000255|PROSITE- ProRule:PRU00359}.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GCACGGTGCCCAGGTTCCACA	0.657																																						uc002top.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(3163-3165)CAG>GAG		myosin VIIB							28.0	32.0	31.0					2																	128367562		2157	4259	6416	SO:0001583	missense	4648					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr2:128367562C>G		CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"""Myosins / Myosin superfamily : Class VII"""	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.3163C>G	2.37:g.128367562C>G	ENSP00000386461:p.Gln1055Glu						p.Q1055E	NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0753)	24	3216	+	Colorectal(110;0.1)		1055			MyTH4 1.		Q14786|Q8TEE1	Missense_Mutation	SNP	ENST00000409816.2	37	c.3163C>G	CCDS46405.1	.	.	.	.	.	.	.	.	.	.	C	9.874	1.199746	0.22121	.	.	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000409816	D;D;D	0.86865	-2.18;-2.18;-2.18	5.29	2.4	0.29515	MyTH4 domain (2);	2.609730	0.01707	N	0.027480	T	0.71710	0.3372	N	0.11427	0.14	0.09310	N	1	B	0.23937	0.094	B	0.19148	0.024	T	0.65080	-0.6255	10	0.02654	T	1	.	3.5246	0.07755	0.1401:0.5797:0.1352:0.145	.	1055	Q6PIF6	MYO7B_HUMAN	E	1055	ENSP00000374175:Q1055E;ENSP00000415090:Q1055E;ENSP00000386461:Q1055E	ENSP00000374175:Q1055E	Q	+	1	0	MYO7B	128084032	0.004000	0.15560	0.002000	0.10522	0.015000	0.08874	1.399000	0.34566	0.188000	0.20168	0.655000	0.94253	CAG		0.657	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3		XM_291001		5	11	0	0	0	1	0	5	11		
NCKAP5	344148	broad.mit.edu	37	2	133542301	133542301	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:133542301C>A	ENST00000409261.1	-	14	2456	c.2083G>T	c.(2083-2085)Gag>Tag	p.E695*	NCKAP5_ENST00000473859.1_5'Flank|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Nonsense_Mutation_p.E695*|NCKAP5_ENST00000409213.1_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	695										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						ATGGAAATCTCATTTCTGGTA	0.458																																						uc002ttp.2		NaN																	0					0						c.(2083-2085)GAG>TAG		Nck-associated protein 5 isoform 1							131.0	124.0	126.0					2																	133542301		1882	4120	6002	SO:0001587	stop_gained	344148						protein binding	g.chr2:133542301C>A	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.2083G>T	2.37:g.133542301C>A	ENSP00000387128:p.Glu695*					NCKAP5_uc002ttq.2_Intron	p.E695*	NM_207363	NP_997246	O14513	NCKP5_HUMAN			14	2457	-			695					B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Nonsense_Mutation	SNP	ENST00000409261.1	37	c.2083G>T	CCDS46418.1	.	.	.	.	.	.	.	.	.	.	c	43	9.848303	0.99279	.	.	ENSG00000176771	ENST00000409261;ENST00000317721	.	.	.	5.64	5.64	0.86602	.	0.000000	0.39020	U	0.001481	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.0683	0.89398	0.0:1.0:0.0:0.0	.	.	.	.	X	695	.	ENSP00000380603:E695X	E	-	1	0	NCKAP5	133258771	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	5.939000	0.70179	2.937000	0.99478	0.651000	0.88453	GAG		0.458	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1		NM_207481		25	111	1	0	1.17739e-12	1	1.28065e-12	25	111		
MCM6	4175	broad.mit.edu	37	2	136603845	136603845	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:136603845G>C	ENST00000264156.2	-	15	2231	c.2171C>G	c.(2170-2172)tCt>tGt	p.S724C	MCM6_ENST00000492091.1_5'UTR	NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	724					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|single-stranded DNA binding (GO:0003697)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)		AATAAGGTTAGAGATTCGGCA	0.483																																					Ovarian(196;141 2104 8848 24991 25939)	uc002tuw.2		NaN																	0					0						c.(2170-2172)TCT>TGT		minichromosome maintenance complex component 6	Atorvastatin(DB01076)						145.0	137.0	140.0					2																	136603845		2203	4300	6503	SO:0001583	missense	4175				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding	g.chr2:136603845G>C		CCDS2179.1	2q14-q21	2008-02-05	2007-04-04		ENSG00000076003	ENSG00000076003			6949	protein-coding gene	gene with protein product	"""MIS5 homolog (S.pombe)"""	601806	"""minichromosome maintenance deficient (mis5, S. pombe) 6"", ""MCM6 minichromosome maintenance deficient 6 (MIS5 homolog, S. pombe) (S. cerevisiae)"", ""minichromosome maintenance deficient 6 homolog (S. cerevisiae)"""				Standard	NM_005915		Approved	Mis5	uc002tuw.4	Q14566	OTTHUMG00000131739	ENST00000264156.2:c.2171C>G	2.37:g.136603845G>C	ENSP00000264156:p.Ser724Cys						p.S724C	NM_005915	NP_005906	Q14566	MCM6_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.166)	15	2247	-			724					B2R6H2|Q13504|Q99859	Missense_Mutation	SNP	ENST00000264156.2	37	c.2171C>G	CCDS2179.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.127343	0.77549	.	.	ENSG00000076003	ENST00000264156	T	0.03301	3.98	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.18215	0.0437	M	0.84326	2.69	0.80722	D	1	D	0.62365	0.991	P	0.61800	0.894	T	0.00872	-1.1532	10	0.37606	T	0.19	-12.7889	17.8026	0.88592	0.0:0.0:1.0:0.0	.	724	Q14566	MCM6_HUMAN	C	724	ENSP00000264156:S724C	ENSP00000264156:S724C	S	-	2	0	MCM6	136320315	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.327000	0.90012	2.443000	0.82685	0.467000	0.42956	TCT		0.483	MCM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254658.1		NM_005915		55	38	0	0	0	1	0	55	38		
EPC2	26122	broad.mit.edu	37	2	149528807	149528807	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:149528807G>A	ENST00000258484.6	+	10	1605	c.1571G>A	c.(1570-1572)cGa>cAa	p.R524Q		NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2 (Drosophila)	524					chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Piccolo NuA4 histone acetyltransferase complex (GO:0032777)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		AGATCATGTCGACTACAGTGT	0.368																																						uc010zbt.1		NaN																	0				ovary(1)|breast(1)|pancreas(1)	3						c.(1570-1572)CGA>CAA		enhancer of polycomb homolog 2							97.0	93.0	94.0					2																	149528807		1876	4095	5971	SO:0001583	missense	26122				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr2:149528807G>A	AF286904	CCDS46422.1	2q23	2008-02-05			ENSG00000135999	ENSG00000135999			24543	protein-coding gene	gene with protein product		611000					Standard	NM_015630		Approved	DKFZP566F2124	uc010zbt.2	Q52LR7	OTTHUMG00000153739	ENST00000258484.6:c.1571G>A	2.37:g.149528807G>A	ENSP00000258484:p.Arg524Gln						p.R524Q	NM_015630	NP_056445	Q52LR7	EPC2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0516)	10	1598	+			524					B3KWT7|D3DP89|Q7L9J1|Q96RR7|Q9NUT8|Q9NVR1|Q9UFM9	Missense_Mutation	SNP	ENST00000258484.6	37	c.1571G>A	CCDS46422.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.987495	0.93106	.	.	ENSG00000135999	ENST00000258484	T	0.19532	2.14	5.36	5.36	0.76844	.	0.000000	0.64402	D	0.000002	T	0.43567	0.1253	L	0.55990	1.75	0.80722	D	1	D	0.69078	0.997	D	0.67725	0.953	T	0.26052	-1.0114	10	0.72032	D	0.01	-1.9771	19.4427	0.94827	0.0:0.0:1.0:0.0	.	524	Q52LR7	EPC2_HUMAN	Q	524	ENSP00000258484:R524Q	ENSP00000258484:R524Q	R	+	2	0	EPC2	149245277	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.898000	0.87363	2.649000	0.89929	0.563000	0.77884	CGA		0.368	EPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332278.1		NM_015630		72	41	0	0	0	1	0	72	41		
NEB	4703	broad.mit.edu	37	2	152477516	152477516	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:152477516C>G	ENST00000172853.10	-	68	9895	c.9748G>C	c.(9748-9750)Gaa>Caa	p.E3250Q	NEB_ENST00000397345.3_Missense_Mutation_p.E3493Q|NEB_ENST00000604864.1_Missense_Mutation_p.E3493Q|NEB_ENST00000427231.2_Missense_Mutation_p.E3493Q|NEB_ENST00000603639.1_Missense_Mutation_p.E3493Q|NEB_ENST00000409198.1_Missense_Mutation_p.E3250Q			P20929	NEBU_HUMAN	nebulin	3250					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTCTTGGCTTCTTCCATGGCC	0.438																																						uc010fnx.2		NaN																	0				ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20						c.(9748-9750)GAA>CAA		nebulin isoform 3							84.0	79.0	81.0					2																	152477516		1907	4113	6020	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152477516C>G	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.9748G>C	2.37:g.152477516C>G	ENSP00000172853:p.Glu3250Gln						p.E3250Q	NM_004543	NP_004534	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	68	9939	-			3250			Nebulin 88.		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.9748G>C		.	.	.	.	.	.	.	.	.	.	C	20.2	3.957184	0.73902	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	5.69	5.69	0.88448	.	0.156269	0.56097	D	0.000029	T	0.37785	0.1016	L	0.41710	1.295	0.80722	D	1	P	0.43857	0.819	B	0.39465	0.3	T	0.07481	-1.0770	10	0.29301	T	0.29	.	18.9514	0.92642	0.0:1.0:0.0:0.0	.	3250	P20929	NEBU_HUMAN	Q	3250;3493;3493;3250	ENSP00000386259:E3250Q;ENSP00000380505:E3493Q;ENSP00000416578:E3493Q;ENSP00000172853:E3250Q	ENSP00000172853:E3250Q	E	-	1	0	NEB	152185762	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.393000	0.79851	2.840000	0.97914	0.655000	0.94253	GAA		0.438	NEB-201	KNOWN	basic	protein_coding	protein_coding			NM_004543		11	12	0	0	0	1	0	11	12		
CACNB4	785	broad.mit.edu	37	2	152728976	152728976	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:152728976C>G	ENST00000539935.1	-	6	620	c.553G>C	c.(553-555)Gga>Cga	p.G185R	CACNB4_ENST00000534999.1_Missense_Mutation_p.G151R|CACNB4_ENST00000427385.1_Missense_Mutation_p.G167R|CACNB4_ENST00000397327.2_Missense_Mutation_p.G138R|CACNB4_ENST00000360283.6_Missense_Mutation_p.G151R|CACNB4_ENST00000201943.5_Missense_Mutation_p.G185R	NM_000726.3|NM_001145798.1	NP_000717.2|NP_001139270.1	O00305	CACB4_HUMAN	calcium channel, voltage-dependent, beta 4 subunit	185					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|cAMP metabolic process (GO:0046058)|cellular calcium ion homeostasis (GO:0006874)|detection of light stimulus involved in visual perception (GO:0050908)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|membrane depolarization (GO:0051899)|muscle fiber development (GO:0048747)|neuromuscular junction development (GO:0007528)|neuronal action potential propagation (GO:0019227)|Peyer's patch development (GO:0048541)|regulation of voltage-gated calcium channel activity (GO:1901385)|spleen development (GO:0048536)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)|transport (GO:0006810)	cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11				BRCA - Breast invasive adenocarcinoma(221;0.156)	Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	ACCATTTCTCCAAGACTTGAA	0.358																																						uc002tya.2		NaN																	0				ovary(2)	2						c.(553-555)GGA>CGA		calcium channel, voltage-dependent, beta 4	Verapamil(DB00661)						114.0	113.0	114.0					2																	152728976		1828	4086	5914	SO:0001583	missense	785				axon guidance|membrane depolarization|synaptic transmission	cytosol|internal side of plasma membrane|plasma membrane|synapse|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chr2:152728976C>G	AF038852	CCDS46426.1, CCDS46427.1, CCDS46428.1, CCDS54409.1	2q22-q23	2009-09-04			ENSG00000182389	ENSG00000182389		"""Calcium channel subunits"""	1404	protein-coding gene	gene with protein product		601949				9628818	Standard	NM_000726		Approved	EJM4	uc002tya.3	O00305	OTTHUMG00000155091	ENST00000539935.1:c.553G>C	2.37:g.152728976C>G	ENSP00000438949:p.Gly185Arg					CACNB4_uc002txy.2_Missense_Mutation_p.G151R|CACNB4_uc002txz.2_Missense_Mutation_p.G167R|CACNB4_uc010fnz.2_Missense_Mutation_p.G185R|CACNB4_uc002tyb.2_Missense_Mutation_p.G151R	p.G185R	NM_000726	NP_000717	O00305	CACB4_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.156)	6	621	-			185					A7BJ74|A8K1Y4|B4DG40|O60515|Q6B000|Q96L40	Missense_Mutation	SNP	ENST00000539935.1	37	c.553G>C	CCDS46426.1	.	.	.	.	.	.	.	.	.	.	C	32	5.162434	0.94727	.	.	ENSG00000182389	ENST00000539935;ENST00000360283;ENST00000543269;ENST00000439467;ENST00000534999;ENST00000397327;ENST00000427385;ENST00000201943;ENST00000339254	D;D;D;D;D;D;D	0.83419	-1.72;-1.72;-1.72;-1.72;-1.72;-1.72;-1.72	5.98	5.98	0.97165	Src homology-3 domain (1);	0.099116	0.64402	D	0.000002	D	0.89146	0.6632	M	0.82630	2.6	0.80722	D	1	P;P;P;P;P	0.52577	0.954;0.923;0.843;0.843;0.903	P;P;B;B;B	0.49637	0.578;0.617;0.295;0.295;0.368	D	0.90077	0.4167	10	0.87932	D	0	-19.0637	20.4581	0.99154	0.0:1.0:0.0:0.0	.	185;151;185;167;151	A7BJ74;E7DBM8;O00305;B4DG40;O00305-2	.;.;CACB4_HUMAN;.;.	R	185;151;142;180;151;138;167;185;185	ENSP00000438949:G185R;ENSP00000353425:G151R;ENSP00000390161:G180R;ENSP00000443893:G151R;ENSP00000380490:G138R;ENSP00000410978:G167R;ENSP00000201943:G185R	ENSP00000201943:G185R	G	-	1	0	CACNB4	152437222	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.434000	0.80377	2.835000	0.97688	0.650000	0.86243	GGA		0.358	CACNB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000338385.4		NM_000726.3		13	102	0	0	0	1	0	13	102		
GPD2	2820	broad.mit.edu	37	2	157407191	157407191	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:157407191G>A	ENST00000310454.6	+	8	1276	c.904G>A	c.(904-906)Gat>Aat	p.D302N	GPD2_ENST00000409674.1_Missense_Mutation_p.D302N|GPD2_ENST00000409125.4_Missense_Mutation_p.D75N|GPD2_ENST00000540309.1_Missense_Mutation_p.D302N|GPD2_ENST00000438166.2_Missense_Mutation_p.D302N	NM_001083112.2	NP_001076581.2	P43304	GPDM_HUMAN	glycerol-3-phosphate dehydrogenase 2 (mitochondrial)	302					camera-type eye development (GO:0043010)|cellular lipid metabolic process (GO:0044255)|gluconeogenesis (GO:0006094)|glycerol catabolic process (GO:0019563)|glycerol-3-phosphate metabolic process (GO:0006072)|multicellular organism growth (GO:0035264)|small molecule metabolic process (GO:0044281)	glycerol-3-phosphate dehydrogenase complex (GO:0009331)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|glycerol-3-phosphate dehydrogenase activity (GO:0004368)|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity (GO:0052591)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1)	22						CAAAATGGATGATAAAGACGC	0.473																																						uc002tzf.3		NaN																	0				ovary(1)	1						c.(904-906)GAT>AAT		glycerol-3-phosphate dehydrogenase 2,							119.0	106.0	111.0					2																	157407191		2203	4300	6503	SO:0001583	missense	2820				cellular lipid metabolic process	glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane	calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity	g.chr2:157407191G>A		CCDS2202.1	2q24.1	2013-01-10			ENSG00000115159	ENSG00000115159	1.1.1.8	"""EF-hand domain containing"""	4456	protein-coding gene	gene with protein product		138430					Standard	NM_001083112		Approved		uc002tzd.4	P43304	OTTHUMG00000131951	ENST00000310454.6:c.904G>A	2.37:g.157407191G>A	ENSP00000308610:p.Asp302Asn					GPD2_uc010zch.1_Missense_Mutation_p.D75N|GPD2_uc002tzd.3_Missense_Mutation_p.D302N|GPD2_uc002tze.1_RNA	p.D302N	NM_001083112	NP_001076581	P43304	GPDM_HUMAN			8	1264	+			302					A8K4V0|B3KSA9|Q59FR1|Q9HAP9	Missense_Mutation	SNP	ENST00000310454.6	37	c.904G>A	CCDS2202.1	.	.	.	.	.	.	.	.	.	.	G	12.74	2.029951	0.35797	.	.	ENSG00000115159	ENST00000310454;ENST00000409125;ENST00000438166;ENST00000540309;ENST00000409674	D;D;D;D;D	0.81659	-1.52;-1.52;-1.52;-1.52;-1.52	5.68	4.62	0.57501	FAD dependent oxidoreductase (1);	0.192253	0.56097	D	0.000028	T	0.68201	0.2975	N	0.25825	0.765	0.58432	D	0.999993	B	0.02656	0.0	B	0.14578	0.011	T	0.61898	-0.6968	10	0.24483	T	0.36	.	11.9746	0.53083	0.1482:0.0:0.8518:0.0	.	302	P43304	GPDM_HUMAN	N	302;75;302;302;302	ENSP00000308610:D302N;ENSP00000386484:D75N;ENSP00000409708:D302N;ENSP00000440892:D302N;ENSP00000386425:D302N	ENSP00000308610:D302N	D	+	1	0	GPD2	157115437	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	4.950000	0.63603	2.675000	0.91044	0.563000	0.77884	GAT		0.473	GPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254910.3				51	109	0	0	0	1	0	51	109		
TANC1	85461	broad.mit.edu	37	2	160027154	160027154	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:160027154G>T	ENST00000263635.6	+	10	1426	c.1189G>T	c.(1189-1191)Gaa>Taa	p.E397*	TANC1_ENST00000454300.1_Nonsense_Mutation_p.E291*	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	397					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						CCAGATAGAAGAAAACTTGAG	0.468																																						uc002uag.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(1189-1191)GAA>TAA		tetratricopeptide repeat, ankyrin repeat and							98.0	105.0	102.0					2																	160027154		1886	4103	5989	SO:0001587	stop_gained	85461					cell junction|postsynaptic density|postsynaptic membrane	binding	g.chr2:160027154G>T	AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29364	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.1189G>T	2.37:g.160027154G>T	ENSP00000263635:p.Glu397*					TANC1_uc010fol.1_Nonsense_Mutation_p.E291*|TANC1_uc010zcm.1_Nonsense_Mutation_p.E389*|TANC1_uc010fom.1_Nonsense_Mutation_p.E203*	p.E397*	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN			10	1463	+			397					C9JD88|Q49AI8	Nonsense_Mutation	SNP	ENST00000263635.6	37	c.1189G>T	CCDS42766.1	.	.	.	.	.	.	.	.	.	.	G	40	8.099700	0.98654	.	.	ENSG00000115183	ENST00000454300;ENST00000263635	.	.	.	5.7	4.81	0.61882	.	0.228381	0.45606	D	0.000359	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	.	16.6912	0.85322	0.0:0.1297:0.8703:0.0	.	.	.	.	X	291;397	.	ENSP00000263635:E397X	E	+	1	0	TANC1	159735400	1.000000	0.71417	0.999000	0.59377	0.949000	0.60115	7.883000	0.87264	1.383000	0.46405	0.655000	0.94253	GAA		0.468	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333135.1				21	119	1	0	7.21436e-19	1	8.04496e-19	21	119		
PLA2R1	22925	broad.mit.edu	37	2	160801453	160801453	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:160801453G>C	ENST00000283243.7	-	28	4314	c.4108C>G	c.(4108-4110)Caa>Gaa	p.Q1370E	PLA2R1_ENST00000460710.1_5'UTR	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	1370	C-type lectin 8. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cytokine production (GO:0001816)|negative regulation of arachidonic acid secretion (GO:1900139)|negative regulation of phospholipase A2 activity (GO:1900138)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|replicative senescence (GO:0090399)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)|phospholipase binding (GO:0043274)|receptor activity (GO:0004872)		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						TTTTTTTCTTGACACGGGGAT	0.423																																						uc002ube.1		NaN																	0				skin(2)|ovary(1)	3						c.(4108-4110)CAA>GAA		phospholipase A2 receptor 1 isoform 1 precursor							134.0	134.0	134.0					2																	160801453		2203	4300	6503	SO:0001583	missense	22925				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding	g.chr2:160801453G>C	U17033	CCDS33309.1, CCDS42767.1	2q23-q24	2011-08-30	2002-08-29		ENSG00000153246	ENSG00000153246		"""C-type lectin domain containing"""	9042	protein-coding gene	gene with protein product		604939	"""phospholipase A2 receptor 1, 180kD"""			7721806, 7925459	Standard	NM_007366		Approved	PLA2G1R, PLA2IR, PLA2-R, CLEC13C	uc002ube.2	Q13018	OTTHUMG00000154087	ENST00000283243.7:c.4108C>G	2.37:g.160801453G>C	ENSP00000283243:p.Gln1370Glu					PLA2R1_uc010zcp.1_Missense_Mutation_p.Q1368E	p.Q1370E	NM_007366	NP_031392	Q13018	PLA2R_HUMAN			28	4315	-			1370			Extracellular (Potential).|C-type lectin 8.		B2RTU9|D3DPB1|Q13019|Q15095|Q53R45|Q53RR7	Missense_Mutation	SNP	ENST00000283243.7	37	c.4108C>G	CCDS33309.1	.	.	.	.	.	.	.	.	.	.	G	5.662	0.306797	0.10733	.	.	ENSG00000153246	ENST00000283243	T	0.17691	2.26	5.76	-0.543	0.11851	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.512136	0.19435	N	0.114321	T	0.04952	0.0133	N	0.02802	-0.49	0.58432	D	0.999999	B;B	0.09022	0.0;0.002	B;B	0.08055	0.002;0.003	T	0.44034	-0.9354	10	0.05620	T	0.96	.	9.1127	0.36737	0.0:0.1961:0.3799:0.424	.	1368;1370	B7ZML4;Q13018	.;PLA2R_HUMAN	E	1370	ENSP00000283243:Q1370E	ENSP00000283243:Q1370E	Q	-	1	0	PLA2R1	160509699	0.853000	0.29707	0.924000	0.36721	0.750000	0.42670	0.158000	0.16422	0.084000	0.17077	0.655000	0.94253	CAA		0.423	PLA2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333820.1				33	297	0	0	0	1	0	33	297		
SLC4A10	57282	broad.mit.edu	37	2	162830786	162830786	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:162830786G>C	ENST00000446997.1	+	24	3280	c.3187G>C	c.(3187-3189)Gat>Cat	p.D1063H	SLC4A10_ENST00000375514.5_Missense_Mutation_p.D1044H|SLC4A10_ENST00000272716.5_Missense_Mutation_p.D1033H|SLC4A10_ENST00000415876.2_Missense_Mutation_p.D1033H|SLC4A10_ENST00000421911.1_Intron	NM_001178015.1	NP_001171486.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	1063					bicarbonate transport (GO:0015701)|chloride transport (GO:0006821)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|symporter activity (GO:0015293)			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60					Sodium bicarbonate(DB01390)	AGCTATGGAAGATGAGGGCAC	0.323																																						uc002ubx.3		NaN																	0				ovary(2)|lung(2)|pancreas(1)	5						c.(3187-3189)GAT>CAT		solute carrier family 4, sodium bicarbonate							95.0	92.0	93.0					2																	162830786		1871	4100	5971	SO:0001583	missense	57282				bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity	g.chr2:162830786G>C		CCDS46438.1, CCDS54411.1, CCDS54412.1	2q24.2	2013-05-22	2008-09-15		ENSG00000144290	ENSG00000144290		"""Solute carriers"""	13811	protein-coding gene	gene with protein product		605556	"""solute carrier family 4, sodium bicarbonate transporter-like, member 10"""			10964153, 18319254	Standard	NM_022058		Approved	NBCn2, NCBE	uc002ubx.4	Q6U841	OTTHUMG00000153938	ENST00000446997.1:c.3187G>C	2.37:g.162830786G>C	ENSP00000393066:p.Asp1063His					SLC4A10_uc002uby.3_Missense_Mutation_p.D1033H|SLC4A10_uc010zcs.1_Missense_Mutation_p.D1044H	p.D1063H	NM_022058	NP_071341	Q6U841	S4A10_HUMAN			24	3371	+			1063			Cytoplasmic (Potential).		B7Z1R0|B7Z2J0|B7ZLC5|B9EG69|F8W675|Q4ZFX6|Q8TCP2|Q9HCQ6	Missense_Mutation	SNP	ENST00000446997.1	37	c.3187G>C	CCDS54411.1	.	.	.	.	.	.	.	.	.	.	G	17.09	3.300783	0.60195	.	.	ENSG00000144290	ENST00000375514;ENST00000415876;ENST00000272716;ENST00000449513;ENST00000446997;ENST00000415711	T;T;T;T	0.79845	-1.31;-1.3;-1.31;-1.3	5.37	5.37	0.77165	.	0.167988	0.53938	D	0.000059	D	0.85691	0.5755	L	0.55990	1.75	0.48452	D	0.999654	P;P;B	0.35033	0.481;0.481;0.349	P;P;B	0.49140	0.601;0.601;0.149	D	0.85455	0.1163	10	0.62326	D	0.03	.	19.4653	0.94935	0.0:0.0:1.0:0.0	.	1044;1033;1063	F8W675;Q6U841-2;Q6U841	.;.;S4A10_HUMAN	H	1044;1033;1033;1032;1063;1062	ENSP00000364664:D1044H;ENSP00000395797:D1033H;ENSP00000272716:D1033H;ENSP00000393066:D1063H	ENSP00000272716:D1033H	D	+	1	0	SLC4A10	162539032	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.397000	0.79903	2.652000	0.90054	0.585000	0.79938	GAT		0.323	SLC4A10-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333090.1		NM_022058		3	27	0	0	0	1	0	3	27		
SCN7A	6332	broad.mit.edu	37	2	167313506	167313506	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:167313506C>A	ENST00000409855.1	-	10	1290	c.1164G>T	c.(1162-1164)ttG>ttT	p.L388F		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	388					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	TGCCTAAGAACAAACTTGCCA	0.348																																						uc002udu.1		NaN																	0				large_intestine(1)	1						c.(1162-1164)TTG>TTT		sodium channel, voltage-gated, type VII, alpha							76.0	65.0	69.0					2																	167313506		1813	4081	5894	SO:0001583	missense	6332				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167313506C>A	M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10594	protein-coding gene	gene with protein product		182392	"""sodium channel, voltage-gated, type VI, alpha"", ""sodium channel, voltage-gated, type VII, alpha"""	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.1164G>T	2.37:g.167313506C>A	ENSP00000386796:p.Leu388Phe					SCN7A_uc010fpm.1_RNA	p.L388F	NM_002976	NP_002967	Q01118	SCN7A_HUMAN			10	1291	-			388			Helical; Name=S6 of repeat I; (By similarity).			Missense_Mutation	SNP	ENST00000409855.1	37	c.1164G>T	CCDS46442.1	.	.	.	.	.	.	.	.	.	.	C	17.74	3.464848	0.63513	.	.	ENSG00000136546	ENST00000409855;ENST00000259060;ENST00000419992;ENST00000441411	D;D;D	0.99282	-5.68;-5.68;-5.68	5.35	3.46	0.39613	Ion transport (1);	0.339635	0.20677	N	0.087732	D	0.99321	0.9762	M	0.87971	2.92	0.33640	D	0.607124	D	0.89917	1.0	D	0.87578	0.998	D	0.99880	1.1112	10	0.87932	D	0	.	9.1405	0.36901	0.0:0.8095:0.0:0.1905	.	388	Q01118	SCN7A_HUMAN	F	388	ENSP00000386796:L388F;ENSP00000413699:L388F;ENSP00000403846:L388F	ENSP00000259060:L388F	L	-	3	2	SCN7A	167021752	0.998000	0.40836	1.000000	0.80357	0.885000	0.51271	0.567000	0.23608	0.548000	0.28955	-0.378000	0.06908	TTG		0.348	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1				3	21	1	0	0.115264	1	0.115264	3	21		
LRP2	4036	broad.mit.edu	37	2	170050365	170050365	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:170050365C>T	ENST00000263816.3	-	47	9021	c.8736G>A	c.(8734-8736)aaG>aaA	p.K2912K		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2912	LDL-receptor class A 21. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	CACCATCACACTTGAACTCAT	0.463																																						uc002ues.2		NaN																	0				ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29						c.(8734-8736)AAG>AAA		low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						212.0	177.0	189.0					2																	170050365		2203	4300	6503	SO:0001819	synonymous_variant	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170050365C>T		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.8736G>A	2.37:g.170050365C>T							p.K2912K	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	47	8949	-			2912			LDL-receptor class A 21.|Extracellular (Potential).		O00711|Q16215	Silent	SNP	ENST00000263816.3	37	c.8736G>A	CCDS2232.1																																																																																				0.463	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2		NM_004525		29	134	0	0	0	1	0	29	134		
RAPGEF4	11069	broad.mit.edu	37	2	173891907	173891907	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:173891907G>T	ENST00000397081.3	+	25	2621	c.2478G>T	c.(2476-2478)tgG>tgT	p.W826C	RAPGEF4_ENST00000397087.3_Missense_Mutation_p.W682C|RAPGEF4_ENST00000535187.1_Missense_Mutation_p.W606C|RAPGEF4_ENST00000540783.1_Missense_Mutation_p.W673C|RAPGEF4_ENST00000264111.6_Missense_Mutation_p.W825C|RAPGEF4_ENST00000539331.1_Missense_Mutation_p.W673C|RAPGEF4_ENST00000409036.1_Missense_Mutation_p.W826C|RAPGEF4_ENST00000538974.1_Missense_Mutation_p.W655C	NM_007023.3	NP_008954.2	Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	826	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				blood coagulation (GO:0007596)|calcium ion-dependent exocytosis (GO:0017156)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|insulin secretion (GO:0030073)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of exocytosis (GO:0017157)|regulation of insulin secretion (GO:0050796)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			TTCAGTTTTGGGTCGTCACTG	0.373																																						uc002uhv.3		NaN																	0				large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	6						c.(2476-2478)TGG>TGT		Rap guanine nucleotide exchange factor (GEF) 4							83.0	81.0	81.0					2																	173891907		1808	4082	5890	SO:0001583	missense	11069				blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity	g.chr2:173891907G>T	U78516	CCDS42775.1, CCDS42776.1, CCDS63060.1, CCDS63061.1, CCDS74604.1	2q31-q32	2008-02-05	2004-03-26		ENSG00000091428	ENSG00000091428			16626	protein-coding gene	gene with protein product	"""cAMP-regulated guanine nucleotide exchange factor II"", "" exchange protein directly activated by cAMP 2"""	606058	"""RAP guanine-nucleotide-exchange factor (GEF) 4"""			10777494, 9856955	Standard	NM_007023		Approved	cAMP-GEFII, CGEF2	uc002uhv.4	Q8WZA2	OTTHUMG00000133677	ENST00000397081.3:c.2478G>T	2.37:g.173891907G>T	ENSP00000380271:p.Trp826Cys					RAPGEF4_uc002uhw.3_Missense_Mutation_p.W682C	p.W826C	NM_007023	NP_008954	Q8WZA2	RPGF4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.194)		25	2665	+			826			Ras-GEF.		B2R7R3|B7Z283|B7Z3T6|B7Z912|O95636|Q8IXK6|Q8TAA4	Missense_Mutation	SNP	ENST00000397081.3	37	c.2478G>T	CCDS42775.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.227349	0.79576	.	.	ENSG00000091428	ENST00000264111;ENST00000397081;ENST00000409036;ENST00000397087;ENST00000538974;ENST00000540783;ENST00000539331;ENST00000535187;ENST00000397085	T;T;T;T;T;T;T;T;T	0.37915	1.17;1.17;1.17;1.17;1.17;1.17;1.17;1.17;1.17	5.65	5.65	0.86999	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.73481	0.3592	H	0.95365	3.66	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.81678	-0.0824	10	0.87932	D	0	.	19.7321	0.96186	0.0:0.0:1.0:0.0	.	682;826	Q8WZA2-3;Q8WZA2	.;RPGF4_HUMAN	C	825;826;826;682;655;673;673;606;57	ENSP00000264111:W825C;ENSP00000380271:W826C;ENSP00000387104:W826C;ENSP00000380276:W682C;ENSP00000440135:W655C;ENSP00000440250:W673C;ENSP00000437384:W673C;ENSP00000438011:W606C;ENSP00000380274:W57C	ENSP00000264111:W825C	W	+	3	0	RAPGEF4	173600153	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.668000	0.90789	0.655000	0.94253	TGG		0.373	RAPGEF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257864.2		NM_007023		59	7	1	0	1.20869e-33	1	1.36582e-33	59	7		
PDE11A	50940	broad.mit.edu	37	2	178705092	178705092	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:178705092C>T	ENST00000286063.6	-	6	1703	c.1386G>A	c.(1384-1386)gaG>gaA	p.E462E	PDE11A_ENST00000389683.3_Silent_p.E18E|PDE11A_ENST00000497003.1_5'UTR|PDE11A_ENST00000449286.2_Silent_p.E104E|PDE11A_ENST00000409504.1_Silent_p.E104E|PDE11A_ENST00000358450.4_Silent_p.E212E	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	462	GAF 2.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|signal transduction (GO:0007165)	cytosol (GO:0005829)|perikaryon (GO:0043204)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|metal ion binding (GO:0046872)	p.E212D(1)|p.E462D(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		Caffeine(DB00201)|Tadalafil(DB00820)	ATGATGATTTCTCCATGCTTT	0.423									Primary Pigmented Nodular Adrenocortical Disease, Familial																													uc002ulq.2		NaN																	2	Substitution - Missense(2)		large_intestine(2)	ovary(3)|large_intestine(1)	4						c.(1384-1386)GAG>GAA		phosphodiesterase 11A isoform 4							110.0	106.0	107.0					2																	178705092		2203	4300	6503	SO:0001819	synonymous_variant	50940	Primary_Pigmented_Nodular_Adrenocortical_Disease_Familial	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2	platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr2:178705092C>T	AJ251509	CCDS33334.1, CCDS42785.1, CCDS42786.1, CCDS46459.1	2q31.3	2010-06-22			ENSG00000128655	ENSG00000128655	3.1.4.17	"""Phosphodiesterases"""	8773	protein-coding gene	gene with protein product		604961				10725373	Standard	NM_001077196		Approved		uc002ulq.3	Q9HCR9	OTTHUMG00000154188	ENST00000286063.6:c.1386G>A	2.37:g.178705092C>T						PDE11A_uc002ulp.2_Silent_p.E18E|PDE11A_uc002ulr.2_Silent_p.E212E|PDE11A_uc002uls.1_Silent_p.E104E|PDE11A_uc002ult.1_Silent_p.E212E|PDE11A_uc002ulu.1_Silent_p.E104E	p.E462E	NM_016953	NP_058649	Q9HCR9	PDE11_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		6	1704	-			462			GAF 2.		Q14CD1|Q53T16|Q96S76|Q9GZY7|Q9HB46|Q9NY45	Silent	SNP	ENST00000286063.6	37	c.1386G>A	CCDS33334.1	.	.	.	.	.	.	.	.	.	.	C	8.100	0.776355	0.16051	.	.	ENSG00000128655	ENST00000433879	.	.	.	5.69	4.81	0.61882	.	.	.	.	.	T	0.64627	0.2615	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61797	-0.6989	4	.	.	.	.	13.2396	0.59989	0.0:0.8711:0.0:0.1289	.	.	.	.	K	101	.	.	R	-	2	0	PDE11A	178413338	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	1.634000	0.37123	2.696000	0.92011	0.467000	0.42956	AGA		0.423	PDE11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334313.2				69	1	0	0	0	1	0	69	1		
PLEKHA3	65977	broad.mit.edu	37	2	179360322	179360322	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:179360322G>C	ENST00000234453.5	+	5	952	c.550G>C	c.(550-552)Gag>Cag	p.E184Q		NM_019091.3	NP_061964.3	Q9HB20	PKHA3_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 3	184						Golgi apparatus (GO:0005794)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.0266)|all cancers(119;0.0865)			GTTTAAACCTGAGATGTTTCA	0.428																																						uc002umn.2		NaN																	0				ovary(1)|kidney(1)	2						c.(550-552)GAG>CAG		pleckstrin homology domain containing, family A							199.0	174.0	182.0					2																	179360322		2203	4300	6503	SO:0001583	missense	65977					cytoplasm|membrane		g.chr2:179360322G>C	AF286162	CCDS33336.1	2q31.2	2013-01-10	2002-01-14		ENSG00000116095	ENSG00000116095		"""Pleckstrin homology (PH) domain containing"""	14338	protein-coding gene	gene with protein product	"""four-phosphate-adaptor protein 1"""	607774	"""pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 3"""			11001876, 15107860	Standard	NM_019091		Approved	FAPP1	uc002umn.3	Q9HB20	OTTHUMG00000154446	ENST00000234453.5:c.550G>C	2.37:g.179360322G>C	ENSP00000234453:p.Glu184Gln						p.E184Q	NM_019091	NP_061964	Q9HB20	PKHA3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.0266)|all cancers(119;0.0865)		5	948	+			184					Q4ZG69|Q86TQ1|Q9NXT3	Missense_Mutation	SNP	ENST00000234453.5	37	c.550G>C	CCDS33336.1	.	.	.	.	.	.	.	.	.	.	G	19.01	3.743944	0.69418	.	.	ENSG00000116095	ENST00000234453	T	0.13538	2.58	5.44	5.44	0.79542	.	0.409080	0.30126	N	0.010349	T	0.11110	0.0271	N	0.12961	0.28	0.52099	D	0.99994	B	0.24483	0.104	B	0.25291	0.059	T	0.21861	-1.0233	10	0.31617	T	0.26	18.4024	19.6207	0.95654	0.0:0.0:1.0:0.0	.	184	Q9HB20	PKHA3_HUMAN	Q	184	ENSP00000234453:E184Q	ENSP00000234453:E184Q	E	+	1	0	PLEKHA3	179068568	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.672000	0.98629	2.707000	0.92482	0.563000	0.77884	GAG		0.428	PLEKHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335241.2		NM_019091		22	146	0	0	0	1	0	22	146		
TTN	7273	broad.mit.edu	37	2	179413724	179413724	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:179413724C>T	ENST00000591111.1	-	289	87930	c.87706G>A	c.(87706-87708)Gtg>Atg	p.V29236M	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V28309M|TTN_ENST00000589042.1_Missense_Mutation_p.V30877M|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V21812M|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V21937M|TTN_ENST00000342175.6_Missense_Mutation_p.V22004M|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	29236	Fibronectin type-III 113. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTGTTTTCACACATGCCTCT	0.423																																						uc010zfg.1		NaN																	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.(84925-84927)GTG>ATG		titin isoform N2-A							134.0	131.0	132.0					2																	179413724		1990	4178	6168	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179413724C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.87706G>A	2.37:g.179413724C>T	ENSP00000465570:p.Val29236Met					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.V22004M|TTN_uc010zfi.1_Missense_Mutation_p.V21937M|TTN_uc010zfj.1_Missense_Mutation_p.V21812M	p.V28309M	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		288	85149	-			29236					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.84925G>A		.	.	.	.	.	.	.	.	.	.	C	12.16	1.854474	0.32791	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57595	0.39;0.39;0.39;0.39	5.3	4.4	0.53042	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.47525	0.1450	N	0.25201	0.72	0.35319	D	0.784562	P;P;P;P	0.47841	0.901;0.901;0.901;0.81	P;P;P;P	0.50490	0.642;0.642;0.642;0.564	T	0.61476	-0.7055	9	0.87932	D	0	.	10.3571	0.43972	0.0:0.5872:0.3401:0.0728	.	21812;21937;22004;29236	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	M	28309;21812;22004;21937;21809	ENSP00000343764:V28309M;ENSP00000434586:V21812M;ENSP00000340554:V22004M;ENSP00000352154:V21937M	ENSP00000340554:V22004M	V	-	1	0	TTN	179121970	0.997000	0.39634	0.996000	0.52242	0.974000	0.67602	1.669000	0.37492	1.308000	0.44962	0.563000	0.77884	GTG		0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		49	41	0	0	0	1	0	49	41		
TTN	7273	broad.mit.edu	37	2	179435376	179435376	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:179435376C>G	ENST00000591111.1	-	276	70784	c.70560G>C	c.(70558-70560)aaG>aaC	p.K23520N	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K22593N|TTN_ENST00000589042.1_Missense_Mutation_p.K25161N|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.K16096N|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K16221N|TTN_ENST00000342175.6_Missense_Mutation_p.K16288N|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	23520	Ig-like 119.				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)			AGTCGGTGCTCTTTATTTCTA	0.413																																						uc010zfg.1		NaN																	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.(67777-67779)AAG>AAC		titin isoform N2-A							166.0	150.0	155.0					2																	179435376		1915	4120	6035	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179435376C>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.70560G>C	2.37:g.179435376C>G	ENSP00000465570:p.Lys23520Asn					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.K16288N|TTN_uc010zfi.1_Missense_Mutation_p.K16221N|TTN_uc010zfj.1_Missense_Mutation_p.K16096N	p.K22593N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	68003	-			23520					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.67779G>C		.	.	.	.	.	.	.	.	.	.	C	9.970	1.225334	0.22457	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.68624	-0.34;-0.34;-0.34;-0.34	5.72	3.56	0.40772	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.75384	0.3842	M	0.86651	2.83	0.52099	D	0.999945	D;D;D;P	0.54772	0.968;0.968;0.968;0.942	P;P;P;P	0.54629	0.757;0.757;0.757;0.743	T	0.77378	-0.2610	9	0.87932	D	0	.	4.7014	0.12828	0.0:0.5923:0.0:0.4077	.	16096;16221;16288;23520	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	22593;16096;16288;16221;16094	ENSP00000343764:K22593N;ENSP00000434586:K16096N;ENSP00000340554:K16288N;ENSP00000352154:K16221N	ENSP00000340554:K16288N	K	-	3	2	TTN	179143622	0.987000	0.35691	1.000000	0.80357	0.994000	0.84299	0.221000	0.17680	1.548000	0.49413	0.650000	0.86243	AAG		0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		17	80	0	0	0	1	0	17	80		
TTN	7273	broad.mit.edu	37	2	179514605	179514605	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:179514605C>G	ENST00000591111.1	-	166	35537	c.35313G>C	c.(35311-35313)aaG>aaC	p.K11771N	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K10844N|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.K13278N|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589830.1_RNA			Q8WZ42	TITIN_HUMAN	titin	11771	Glu-rich.|Pro-rich.				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)			GGATGATCTTCTTGGGCTCTT	0.338																																						uc010zfg.1		NaN																	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.(32530-32532)AAG>AAC		titin isoform N2-A							149.0	140.0	143.0					2																	179514605		1820	4083	5903	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179514605C>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.35313G>C	2.37:g.179514605C>G	ENSP00000465570:p.Lys11771Asn					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc010fre.1_Intron|TTN_uc002umw.1_RNA|TTN_uc002umx.1_5'UTR	p.K10844N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		165	32756	-			11771					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.32532G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.65|14.65	2.597338|2.597338	0.46318|0.46318	.|.	.|.	ENSG00000155657|ENSG00000155657	ENST00000426232|ENST00000342992;ENST00000429997;ENST00000446966;ENST00000434777	.|T;T	.|0.69806	.|-0.2;-0.43	5.49|5.49	2.76|2.76	0.32466|0.32466	.|Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.|.	.|.	.|.	.|.	T|T	0.63331|0.63331	0.2502|0.2502	L|L	0.46157|0.46157	1.445|1.445	0.80722|0.80722	D|D	1|1	.|P	.|0.48162	.|0.906	.|P	.|0.46585	.|0.521	T|T	0.63786|0.63786	-0.6558|-0.6558	5|9	.|0.87932	.|D	.|0	.|.	10.9838|10.9838	0.47510|0.47510	0.0:0.8011:0.0:0.1989|0.0:0.8011:0.0:0.1989	.|.	.|11771	.|Q8WZ42	.|TITIN_HUMAN	Q|N	119|10844;117;117;71	.|ENSP00000343764:K10844N;ENSP00000408004:K117N	.|ENSP00000343764:K10844N	E|K	-|-	1|3	0|2	TTN|TTN	179222850|179222850	0.985000|0.985000	0.35326|0.35326	1.000000|1.000000	0.80357|0.80357	0.950000|0.950000	0.60333|0.60333	0.278000|0.278000	0.18753|0.18753	0.388000|0.388000	0.25054|0.25054	-0.137000|-0.137000	0.14449|0.14449	GAA|AAG		0.338	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		41	78	0	0	0	1	0	41	78		
NCKAP1	10787	broad.mit.edu	37	2	183817172	183817172	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:183817172G>T	ENST00000361354.4	-	23	2934	c.2562C>A	c.(2560-2562)agC>agA	p.S854R	NCKAP1_ENST00000360982.2_Missense_Mutation_p.S860R	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	854					apical protein localization (GO:0045176)|apoptotic process (GO:0006915)|basal protein localization (GO:0045175)|central nervous system development (GO:0007417)|embryonic body morphogenesis (GO:0010172)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube development (GO:0035050)|endoderm development (GO:0007492)|establishment or maintenance of actin cytoskeleton polarity (GO:0030950)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|mesodermal cell migration (GO:0008078)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|paraxial mesoderm morphogenesis (GO:0048340)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|positive regulation of lamellipodium assembly (GO:0010592)|protein stabilization (GO:0050821)|Rac protein signal transduction (GO:0016601)|regulation of protein localization (GO:0032880)|somitogenesis (GO:0001756)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			GCCACATAAGGCTTTCACTTA	0.313																																						uc002upc.2		NaN																	0				ovary(2)	2						c.(2560-2562)AGC>AGA		NCK-associated protein 1 isoform 1							74.0	79.0	77.0					2																	183817172		2203	4293	6496	SO:0001583	missense	10787				apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding	g.chr2:183817172G>T	AB014509	CCDS2287.1, CCDS2288.1	2q32	2009-08-14			ENSG00000061676	ENSG00000061676			7666	protein-coding gene	gene with protein product		604891				10673335, 12181570, 9344857	Standard	NM_013436		Approved	Nap1, HEM2, NAP125	uc002upb.4	Q9Y2A7	OTTHUMG00000132623	ENST00000361354.4:c.2562C>A	2.37:g.183817172G>T	ENSP00000355348:p.Ser854Arg					NCKAP1_uc002upb.2_Missense_Mutation_p.S860R	p.S854R	NM_013436	NP_038464	Q9Y2A7	NCKP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)		23	2964	-			854					O60329|Q53QN5|Q53S94|Q53Y35	Missense_Mutation	SNP	ENST00000361354.4	37	c.2562C>A	CCDS2287.1	.	.	.	.	.	.	.	.	.	.	G	6.712	0.500133	0.12762	.	.	ENSG00000061676	ENST00000361354;ENST00000360982	T;T	0.29655	1.56;1.56	5.58	2.78	0.32641	.	0.000000	0.85682	D	0.000000	T	0.18509	0.0444	L	0.29908	0.895	0.80722	D	1	B;B	0.24092	0.097;0.079	B;B	0.23150	0.044;0.026	T	0.06972	-1.0797	10	0.11794	T	0.64	-9.3137	8.9928	0.36035	0.3579:0.0:0.6421:0.0	.	854;860	Q9Y2A7;Q9Y2A7-2	NCKP1_HUMAN;.	R	854;860	ENSP00000355348:S854R;ENSP00000354251:S860R	ENSP00000354251:S860R	S	-	3	2	NCKAP1	183525417	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.160000	0.31761	0.292000	0.22492	0.650000	0.86243	AGC		0.313	NCKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255867.2		NM_205842		19	63	1	0	8.00594e-06	1	8.29128e-06	19	63		
SF3B1	23451	broad.mit.edu	37	2	198257718	198257718	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:198257718C>G	ENST00000335508.6	-	24	3825	c.3734G>C	c.(3733-3735)aGa>aCa	p.R1245T		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	1245					anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TTGCAACATTCTACATGGTCC	0.348			Mis		myelodysplastic syndrome																																	uc002uue.2		NaN		Dom	yes		2	2q33.1	23451		"""splicing factor 3b, subunit 1, 155kDa"""			L					0				pancreas(3)|ovary(1)|breast(1)|skin(1)	6						c.(3733-3735)AGA>ACA		splicing factor 3b, subunit 1 isoform 1							72.0	70.0	71.0					2																	198257718		2203	4300	6503	SO:0001583	missense	23451				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	g.chr2:198257718C>G	AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524			10768	protein-coding gene	gene with protein product		605590	"""splicing factor 3b, subunit 1, 155kD"""			9585501	Standard	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.3734G>C	2.37:g.198257718C>G	ENSP00000335321:p.Arg1245Thr						p.R1245T	NM_012433	NP_036565	O75533	SF3B1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		24	3782	-			1245					E9PCH3	Missense_Mutation	SNP	ENST00000335508.6	37	c.3734G>C	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	C	17.12	3.308492	0.60305	.	.	ENSG00000115524	ENST00000335508	T	0.64085	-0.08	5.3	5.3	0.74995	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.59169	0.2174	L	0.46157	1.445	0.80722	D	1	B	0.06786	0.001	B	0.12156	0.007	T	0.54840	-0.8233	10	0.44086	T	0.13	.	18.9498	0.92637	0.0:1.0:0.0:0.0	.	1245	O75533	SF3B1_HUMAN	T	1245	ENSP00000335321:R1245T	ENSP00000335321:R1245T	R	-	2	0	SF3B1	197965963	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.760000	0.85248	2.491000	0.84063	0.561000	0.74099	AGA		0.348	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2				5	32	0	0	0	1	0	5	32		
KCTD18	130535	broad.mit.edu	37	2	201369515	201369515	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:201369515C>T	ENST00000359878.3	-	3	838	c.328G>A	c.(328-330)Gaa>Aaa	p.E110K	KCTD18_ENST00000409157.1_Missense_Mutation_p.E110K|KCTD18_ENST00000468413.1_5'UTR	NM_152387.2	NP_689600.2	Q6PI47	KCD18_HUMAN	potassium channel tetramerization domain containing 18	110					protein homooligomerization (GO:0051260)					endometrium(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						GTCTCCATTTCATTGGCCAAA	0.373																																						uc002uvs.2		NaN																	0				ovary(1)	1						c.(328-330)GAA>AAA		potassium channel tetramerization domain							85.0	74.0	78.0					2																	201369515		2203	4300	6503	SO:0001583	missense	130535					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr2:201369515C>T	AK055884	CCDS2330.1	2q33.1	2013-06-20	2013-06-20		ENSG00000155729	ENSG00000155729			26446	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 18"""				Standard	NM_152387		Approved	FLJ31322, 6530404F10Rik, FLJ37818	uc002uvs.3	Q6PI47	OTTHUMG00000132781	ENST00000359878.3:c.328G>A	2.37:g.201369515C>T	ENSP00000352941:p.Glu110Lys					KCTD18_uc002uvt.2_Missense_Mutation_p.E110K|KCTD18_uc002uvu.1_Missense_Mutation_p.E110K	p.E110K	NM_152387	NP_689600	Q6PI47	KCD18_HUMAN			3	845	-			110					Q53T21|Q6NW26|Q6PCD8|Q8N9B7|Q96N73	Missense_Mutation	SNP	ENST00000359878.3	37	c.328G>A	CCDS2330.1	.	.	.	.	.	.	.	.	.	.	C	32	5.184091	0.94885	.	.	ENSG00000155729	ENST00000359878;ENST00000409157	D;D	0.97976	-4.64;-4.64	5.65	5.65	0.86999	BTB/POZ-like (1);BTB/POZ fold (1);	0.000000	0.64402	D	0.000002	D	0.97331	0.9127	N	0.19112	0.55	0.45914	D	0.998752	D;D	0.89917	0.996;1.0	D;D	0.83275	0.99;0.996	D	0.96631	0.9467	10	0.31617	T	0.26	-29.3338	19.5069	0.95121	0.0:1.0:0.0:0.0	.	110;110	Q6PI47-2;Q6PI47	.;KCD18_HUMAN	K	110	ENSP00000352941:E110K;ENSP00000386751:E110K	ENSP00000352941:E110K	E	-	1	0	KCTD18	201077760	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.180000	0.58296	2.941000	0.99782	0.655000	0.94253	GAA		0.373	KCTD18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256188.1		NM_152387		7	30	0	0	0	1	0	7	30		
TRAK2	66008	broad.mit.edu	37	2	202251049	202251049	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:202251049T>C	ENST00000332624.3	-	14	2283	c.1855A>G	c.(1855-1857)Act>Gct	p.T619A		NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	619					protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|endosome (GO:0005768)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GABA receptor binding (GO:0050811)|receptor binding (GO:0005102)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						ACCTGAAAAGTAATACCCTCC	0.463																																						uc002uyb.3		NaN																	0					0						c.(1855-1857)ACT>GCT		trafficking protein, kinesin binding 2							115.0	110.0	112.0					2																	202251049		2203	4300	6503	SO:0001583	missense	66008					early endosome|plasma membrane	GABA receptor binding	g.chr2:202251049T>C	AB038951	CCDS2347.1	2q33.1	2012-03-05	2005-12-13	2005-12-13	ENSG00000115993	ENSG00000115993			13206	protein-coding gene	gene with protein product	"""gamma-aminobutyric acid(A) receptor-interacting factor"", ""milton homolog 2 (Drosophila)"", ""O-linked N-acetylglucosamine transferase interacting protein 98"""	607334	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 3"""	ALS2CR3		11161814, 16380713, 20230862	Standard	NM_015049		Approved	CALS-C, KIAA0549, GRIF-1, OIP98, MILT2	uc002uyb.4	O60296	OTTHUMG00000132822	ENST00000332624.3:c.1855A>G	2.37:g.202251049T>C	ENSP00000328875:p.Thr619Ala						p.T619A	NM_015049	NP_055864	O60296	TRAK2_HUMAN			14	2301	-			619	Missing (in Ref. 2).				E7EV21|Q8WVH7|Q96NS2|Q9C0K5|Q9C0K6	Missense_Mutation	SNP	ENST00000332624.3	37	c.1855A>G	CCDS2347.1	.	.	.	.	.	.	.	.	.	.	T	20.1	3.932767	0.73442	.	.	ENSG00000115993	ENST00000332624;ENST00000542292	T	0.07114	3.22	5.06	5.06	0.68205	.	12.469000	0.00166	N	0.000001	T	0.34337	0.0894	M	0.69823	2.125	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.00032	-1.2273	10	0.35671	T	0.21	.	14.8139	0.70017	0.0:0.0:0.0:1.0	.	619	O60296	TRAK2_HUMAN	A	619;525	ENSP00000328875:T619A	ENSP00000328875:T619A	T	-	1	0	TRAK2	201959294	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	4.431000	0.59915	1.914000	0.55421	0.533000	0.62120	ACT		0.463	TRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256284.3		NM_015049		9	69	0	0	0	1	0	9	69		
NRP2	8828	broad.mit.edu	37	2	206659622	206659622	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:206659622T>C	ENST00000357785.5	+	17	2652	c.2621T>C	c.(2620-2622)cTg>cCg	p.L874P	NRP2_ENST00000360409.3_Missense_Mutation_p.L879P|NRP2_ENST00000412873.2_Missense_Mutation_p.L857P|NRP2_ENST00000540178.1_Missense_Mutation_p.L874P|NRP2_ENST00000540841.1_Missense_Mutation_p.L857P			Q99435	NELL2_HUMAN	neuropilin 2	0						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						GGCGTCCTCCTGGGGGCCACC	0.612																																						uc002vaw.2		NaN																	0				skin(2)|ovary(1)|central_nervous_system(1)	4						c.(2635-2637)CTG>CCG		neuropilin 2 isoform 1 precursor							98.0	88.0	91.0					2																	206659622		2203	4300	6503	SO:0001583	missense	8828				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity	g.chr2:206659622T>C	AF016098	CCDS2364.1, CCDS2365.1, CCDS46496.1, CCDS46497.1, CCDS46498.1, CCDS46499.1	2q33.3	2008-05-23			ENSG00000118257	ENSG00000118257			8005	protein-coding gene	gene with protein product		602070				9529250, 9331348	Standard	NM_003872		Approved	VEGF165R2	uc002vaw.3	O60462	OTTHUMG00000132893	ENST00000357785.5:c.2621T>C	2.37:g.206659622T>C	ENSP00000350432:p.Leu874Pro					NRP2_uc002vax.2_Missense_Mutation_p.L874P|NRP2_uc002vay.2_Missense_Mutation_p.L857P	p.L879P	NM_201266	NP_957718	O60462	NRP2_HUMAN			17	3427	+			879			Helical; (Potential).		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	ENST00000357785.5	37	c.2636T>C	CCDS46496.1	.	.	.	.	.	.	.	.	.	.	T	19.67	3.870217	0.72065	.	.	ENSG00000118257	ENST00000360409;ENST00000540178;ENST00000540841;ENST00000357785;ENST00000412873	D;D;D;D;D	0.92545	-2.88;-2.81;-3.06;-2.85;-3.06	6.17	6.17	0.99709	Neuropilin-1, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.95198	0.8443	L	0.58101	1.795	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.75484	0.982;0.986;0.977	D	0.95485	0.8564	10	0.87932	D	0	-15.894	16.8222	0.85835	0.0:0.0:0.0:1.0	.	857;874;879	O60462-2;O60462-3;O60462	.;.;NRP2_HUMAN	P	879;874;857;874;857	ENSP00000353582:L879P;ENSP00000439658:L874P;ENSP00000439261:L857P;ENSP00000350432:L874P;ENSP00000407626:L857P	ENSP00000350432:L874P	L	+	2	0	NRP2	206367867	1.000000	0.71417	1.000000	0.80357	0.671000	0.39405	8.040000	0.89188	2.371000	0.80710	0.533000	0.62120	CTG		0.612	NRP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336467.1				25	27	0	0	0	1	0	25	27		
MDH1B	130752	broad.mit.edu	37	2	207621668	207621668	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:207621668C>A	ENST00000374412.3	-	4	642	c.367G>T	c.(367-369)Gaa>Taa	p.E123*	MDH1B_ENST00000392214.2_Nonsense_Mutation_p.E123*|MDH1B_ENST00000454776.2_Nonsense_Mutation_p.E123*|MDH1B_ENST00000449792.1_Nonsense_Mutation_p.E25*	NM_001039845.1|NM_001282940.1	NP_001034934.1|NP_001269869.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	123					carbohydrate metabolic process (GO:0005975)|malate metabolic process (GO:0006108)|tricarboxylic acid cycle (GO:0006099)		malate dehydrogenase activity (GO:0016615)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		TTCAGGGCTTCTTCCTCCTGC	0.428																																					Pancreas(76;29 1355 28675 37177 51207)	uc002vbs.2		NaN																	0				ovary(3)|kidney(1)	4						c.(367-369)GAA>TAA		malate dehydrogenase 1B, NAD (soluble)							116.0	106.0	109.0					2																	207621668		2203	4300	6503	SO:0001587	stop_gained	130752				carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity	g.chr2:207621668C>A		CCDS33365.1, CCDS63102.1	2q33.3	2008-05-27			ENSG00000138400	ENSG00000138400			17836	protein-coding gene	gene with protein product							Standard	NM_001039845		Approved	FLJ25341, RP11-95H11	uc002vbs.3	Q5I0G3	OTTHUMG00000132918	ENST00000374412.3:c.367G>T	2.37:g.207621668C>A	ENSP00000363533:p.Glu123*					MDH1B_uc010ziw.1_RNA|MDH1B_uc010fui.2_Nonsense_Mutation_p.E123*|MDH1B_uc010fuj.2_Nonsense_Mutation_p.E25*|MDH1B_uc002vbt.2_RNA	p.E123*	NM_001039845	NP_001034934	Q5I0G3	MDH1B_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)	4	422	-			123					A8K8M1|Q53TK9|Q8IV51	Nonsense_Mutation	SNP	ENST00000374412.3	37	c.367G>T	CCDS33365.1	.	.	.	.	.	.	.	.	.	.	C	9.823	1.186195	0.21870	.	.	ENSG00000138400	ENST00000374412;ENST00000449792;ENST00000454776;ENST00000392214	.	.	.	6.08	1.76	0.24704	.	0.437819	0.26816	N	0.022355	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-17.956	12.1948	0.54290	0.0:0.7301:0.0:0.2699	.	.	.	.	X	123;25;123;123	.	ENSP00000363533:E123X	E	-	1	0	MDH1B	207329913	0.017000	0.18338	0.004000	0.12327	0.040000	0.13550	0.499000	0.22546	0.448000	0.26722	-0.140000	0.14226	GAA		0.428	MDH1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256429.2		NM_001039845		10	28	1	0	2.80697e-09	1	2.97985e-09	10	28		
ERBB4	2066	broad.mit.edu	37	2	212248420	212248420	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:212248420C>G	ENST00000342788.4	-	28	4157	c.3847G>C	c.(3847-3849)Gaa>Caa	p.E1283Q	ERBB4_ENST00000436443.1_Missense_Mutation_p.E1267Q|ERBB4_ENST00000402597.1_Missense_Mutation_p.E1273Q	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	1283					cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	GAGAGGTATTCAGGATTCTCT	0.502										TSP Lung(8;0.080)																												uc002veg.1		NaN																	0				lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33						c.(3847-3849)GAA>CAA		v-erb-a erythroblastic leukemia viral oncogene							82.0	85.0	84.0					2																	212248420		2203	4300	6503	SO:0001583	missense	2066				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr2:212248420C>G	L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.3847G>C	2.37:g.212248420C>G	ENSP00000342235:p.Glu1283Gln	TSP Lung(8;0.080)				ERBB4_uc002veh.1_Missense_Mutation_p.E1267Q|ERBB4_uc010zji.1_Missense_Mutation_p.E1273Q|ERBB4_uc010zjj.1_Missense_Mutation_p.E1257Q	p.E1283Q	NM_005235	NP_005226	Q15303	ERBB4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	28	3945	-		Renal(323;0.06)|Lung NSC(271;0.197)	1283			Cytoplasmic (Potential).		B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	ENST00000342788.4	37	c.3847G>C	CCDS2394.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.165780	0.78339	.	.	ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597	D;D;D	0.84442	-1.84;-1.84;-1.85	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	D	0.92450	0.7603	M	0.73962	2.25	0.80722	D	1	D;D;D;D	0.89917	0.996;1.0;0.996;0.993	D;D;D;D	0.91635	0.991;0.999;0.991;0.979	D	0.92714	0.6185	10	0.87932	D	0	.	19.39	0.94576	0.0:1.0:0.0:0.0	.	1257;1273;1267;1283	Q15303-4;Q15303-2;Q15303-3;Q15303	.;.;.;ERBB4_HUMAN	Q	1283;1267;1273	ENSP00000342235:E1283Q;ENSP00000403204:E1267Q;ENSP00000385565:E1273Q	ENSP00000342235:E1283Q	E	-	1	0	ERBB4	211956665	1.000000	0.71417	0.997000	0.53966	0.984000	0.73092	7.320000	0.79064	2.812000	0.96745	0.557000	0.71058	GAA		0.502	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1		NM_001042599		11	31	0	0	0	1	0	11	31		
STK36	27148	broad.mit.edu	37	2	219544719	219544719	+	Nonsense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:219544719C>G	ENST00000295709.3	+	9	1331	c.1052C>G	c.(1051-1053)tCa>tGa	p.S351*	STK36_ENST00000392106.2_Nonsense_Mutation_p.S351*|STK36_ENST00000392105.3_Nonsense_Mutation_p.S351*|STK36_ENST00000440309.1_Nonsense_Mutation_p.S351*	NM_015690.4	NP_056505.2			serine/threonine kinase 36											biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		CCTCAGGAATCAAGCCTCCTG	0.587																																						uc002viu.2		NaN																	0				ovary(4)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)	11						c.(1051-1053)TCA>TGA		serine/threonine kinase 36							65.0	69.0	68.0					2																	219544719		2203	4300	6503	SO:0001587	stop_gained	27148				cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding	g.chr2:219544719C>G	AB033104	CCDS2421.1, CCDS58750.1	2q35	2010-06-25	2010-06-25		ENSG00000163482	ENSG00000163482			17209	protein-coding gene	gene with protein product	"""fused homolog (Drosophila)"""	607652	"""serine/threonine kinase 36 (fused homolog, Drosophila)"""			10806483	Standard	NM_001243313		Approved	KIAA1278, FU	uc002viu.3	Q9NRP7	OTTHUMG00000133079	ENST00000295709.3:c.1052C>G	2.37:g.219544719C>G	ENSP00000295709:p.Ser351*					STK36_uc002viv.2_Nonsense_Mutation_p.S351*	p.S351*	NM_015690	NP_056505	Q9NRP7	STK36_HUMAN		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)	9	1318	+		Renal(207;0.0915)	351						Nonsense_Mutation	SNP	ENST00000295709.3	37	c.1052C>G	CCDS2421.1	.	.	.	.	.	.	.	.	.	.	C	36	5.838988	0.97009	.	.	ENSG00000163482	ENST00000295709;ENST00000392106;ENST00000392105;ENST00000440309	.	.	.	5.38	3.44	0.39384	.	1.293000	0.05635	N	0.582463	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	4.0005	4.5135	0.11923	0.0:0.6157:0.1854:0.199	.	.	.	.	X	351	.	ENSP00000295709:S351X	S	+	2	0	STK36	219252963	0.073000	0.21202	0.195000	0.23364	0.746000	0.42486	1.421000	0.34815	1.501000	0.48654	0.655000	0.94253	TCA		0.587	STK36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256723.2				21	34	0	0	0	1	0	21	34		
CCDC108	255101	broad.mit.edu	37	2	219870931	219870931	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:219870931G>C	ENST00000341552.5	-	31	4817	c.4734C>G	c.(4732-4734)atC>atG	p.I1578M	CCDC108_ENST00000453220.1_Missense_Mutation_p.I1578M|CCDC108_ENST00000441968.1_Missense_Mutation_p.I1578M|AC097468.4_ENST00000441450.1_RNA	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1578						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)	p.I1578M(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCTGGTTCTTGATGGGAGGCA	0.607																																						uc002vjl.1		NaN																	1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4						c.(4732-4734)ATC>ATG		coiled-coil domain containing 108 isoform 1							55.0	62.0	60.0					2																	219870931		2203	4300	6503	SO:0001583	missense	255101					integral to membrane	structural molecule activity	g.chr2:219870931G>C	NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.4734C>G	2.37:g.219870931G>C	ENSP00000340776:p.Ile1578Met						p.I1578M	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	31	4818	-		Renal(207;0.0915)	1578					A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Missense_Mutation	SNP	ENST00000341552.5	37	c.4734C>G	CCDS2430.2	.	.	.	.	.	.	.	.	.	.	G	12.83	2.055486	0.36277	.	.	ENSG00000181378	ENST00000341552;ENST00000441968;ENST00000453220	T;T;T	0.14766	2.48;2.48;2.48	5.29	4.38	0.52667	.	0.000000	0.45606	D	0.000353	T	0.32496	0.0831	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.03875	-1.0996	10	0.87932	D	0	-33.052	6.9174	0.24367	0.0891:0.0:0.7366:0.1744	.	1578	Q6ZU64	CC108_HUMAN	M	1578	ENSP00000340776:I1578M;ENSP00000413377:I1578M;ENSP00000409117:I1578M	ENSP00000340776:I1578M	I	-	3	3	CCDC108	219579175	1.000000	0.71417	1.000000	0.80357	0.238000	0.25445	1.547000	0.36190	2.466000	0.83321	0.655000	0.94253	ATC		0.607	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4		NM_194302		38	8	0	0	0	1	0	38	8		
SLC16A14	151473	broad.mit.edu	37	2	230911034	230911034	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:230911034G>C	ENST00000295190.4	-	4	1266	c.808C>G	c.(808-810)Cag>Gag	p.Q270E		NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN	solute carrier family 16, member 14	270						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		TGCCCGGCCTGATCGGGGCAC	0.587																																						uc002vqd.1		NaN																	0				ovary(4)|skin(2)	6						c.(808-810)CAG>GAG		solute carrier family 16 (monocarboxylic acid							98.0	100.0	99.0					2																	230911034		2203	4300	6503	SO:0001583	missense	151473					integral to membrane|plasma membrane	symporter activity	g.chr2:230911034G>C	BN000146	CCDS2473.1	2q37.1	2013-07-18	2013-07-18		ENSG00000163053	ENSG00000163053		"""Solute carriers"""	26417	protein-coding gene	gene with protein product	"""monocarboxylic acid transporter 14"""		"""solute carrier family 16 (monocarboxylic acid transporters), member 14"""				Standard	NM_152527		Approved	FLJ30794, MCT14	uc002vqd.2	Q7RTX9	OTTHUMG00000133205	ENST00000295190.4:c.808C>G	2.37:g.230911034G>C	ENSP00000295190:p.Gln270Glu					FBXO36_uc010fxi.1_Intron|SLC16A14_uc002vqe.2_Missense_Mutation_p.Q270E|SLC16A14_uc002vqf.2_Missense_Mutation_p.Q270E	p.Q270E	NM_152527	NP_689740	Q7RTX9	MOT14_HUMAN		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)	4	1171	-		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)	270			Extracellular (Potential).		A8KA08|Q53R92|Q96NI7	Missense_Mutation	SNP	ENST00000295190.4	37	c.808C>G	CCDS2473.1	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.051812	0.00394	.	.	ENSG00000163053	ENST00000295190;ENST00000457406;ENST00000412034	T;T;T	0.07444	3.2;3.19;3.2	4.8	-9.13	0.00704	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	3.963390	0.00357	N	0.000029	T	0.02083	0.0065	N	0.01874	-0.695	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.37776	-0.9691	10	0.02654	T	1	.	4.8666	0.13611	0.0689:0.3423:0.2211:0.3677	.	270;270	E7EMG7;Q7RTX9	.;MOT14_HUMAN	E	270	ENSP00000295190:Q270E;ENSP00000400352:Q270E;ENSP00000395775:Q270E	ENSP00000295190:Q270E	Q	-	1	0	SLC16A14	230619278	0.000000	0.05858	0.000000	0.03702	0.135000	0.20990	0.098000	0.15189	-1.577000	0.01650	-0.305000	0.09177	CAG		0.587	SLC16A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256918.2		NM_152527		54	9	0	0	0	1	0	54	9		
INPP5D	3635	broad.mit.edu	37	2	234072504	234072504	+	Silent	SNP	C	C	T	rs567362809		TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:234072504C>T	ENST00000359570.5	+	14	1356	c.1356C>T	c.(1354-1356)atC>atT	p.I452I	INPP5D_ENST00000450745.1_Silent_p.I216I|INPP5D_ENST00000455936.2_Silent_p.I216I|INPP5D_ENST00000538935.1_Silent_p.I451I			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	464					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|determination of adult lifespan (GO:0008340)|immunoglobulin mediated immune response (GO:0016064)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of bone resorption (GO:0045779)|negative regulation of immune response (GO:0050777)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of neutrophil differentiation (GO:0045659)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of signal transduction (GO:0009968)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of erythrocyte differentiation (GO:0045648)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|membrane (GO:0016020)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		GGCTGGAGATCCTCAAACACT	0.552																																					NSCLC(82;1215 1426 16163 20348 41018)	uc010zmo.1		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1390-1392)ATC>ATT		SH2 containing inositol phosphatase isoform a							68.0	73.0	71.0					2																	234072504		2012	4162	6174	SO:0001819	synonymous_variant	3635				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding	g.chr2:234072504C>T	U57650	CCDS74672.1	2q37.1	2013-02-14	2002-08-29		ENSG00000168918	ENSG00000168918		"""SH2 domain containing"""	6079	protein-coding gene	gene with protein product		601582	"""inositol polyphosphate-5-phosphatase, 145kD"""			8643691, 8874179	Standard	NM_001017915		Approved	SHIP, hp51CN	uc010zmp.2	Q92835	OTTHUMG00000133688	ENST00000359570.5:c.1356C>T	2.37:g.234072504C>T						INPP5D_uc010zmp.1_Silent_p.I463I	p.I464I	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)	11	1545	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)	464					O00145|Q13544|Q13545|Q6P5A4|Q92656|Q9UE80	Silent	SNP	ENST00000359570.5	37	c.1392C>T																																																																																					0.552	INPP5D-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_001017915		31	6	0	0	0	1	0	31	6		
HJURP	55355	broad.mit.edu	37	2	234749322	234749322	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:234749322C>G	ENST00000411486.2	-	8	2169	c.2104G>C	c.(2104-2106)Gat>Cat	p.D702H	HJURP_ENST00000432087.1_Missense_Mutation_p.D648H|HJURP_ENST00000434039.1_5'Flank|HJURP_ENST00000441687.1_Missense_Mutation_p.D617H	NM_018410.3	NP_060880.3	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	702					cell cycle (GO:0007049)|CENP-A containing nucleosome assembly (GO:0034080)|chromosome segregation (GO:0007059)|nucleosome assembly (GO:0006334)|regulation of DNA binding (GO:0051101)|regulation of protein complex assembly (GO:0043254)	chromosome, centromeric region (GO:0000775)|condensed chromosome kinetochore (GO:0000777)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|identical protein binding (GO:0042802)			NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		TCCACCCCATCTGAGGCACCC	0.577																																						uc002vvg.2		NaN																	0				ovary(1)	1						c.(2104-2106)GAT>CAT		Holliday junction recognition protein							96.0	97.0	97.0					2																	234749322		2203	4300	6503	SO:0001583	missense	55355				cell cycle|CenH3-containing nucleosome assembly at centromere|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly	condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm	DNA binding|histone binding	g.chr2:234749322C>G		CCDS33406.1, CCDS63166.1, CCDS63167.1	2q37.1	2007-12-06			ENSG00000123485	ENSG00000123485			25444	protein-coding gene	gene with protein product		612667				17823411	Standard	NM_001282962		Approved	DKFZp762E1312, URLC9, hFLEG1, FAKTS	uc002vvg.3	Q8NCD3	OTTHUMG00000059125	ENST00000411486.2:c.2104G>C	2.37:g.234749322C>G	ENSP00000414109:p.Asp702His					HJURP_uc010znd.1_Missense_Mutation_p.D641H|HJURP_uc010zne.1_Missense_Mutation_p.D610H	p.D702H	NM_018410	NP_060880	Q8NCD3	HJURP_HUMAN		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)	8	2170	-		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)	702					A8IRH5|B4DWR0|B4DZV4|Q9BUT2|Q9NSL8	Missense_Mutation	SNP	ENST00000411486.2	37	c.2104G>C	CCDS33406.1	.	.	.	.	.	.	.	.	.	.	C	8.167	0.790860	0.16258	.	.	ENSG00000123485	ENST00000411486;ENST00000432087;ENST00000441687	T;T;T	0.07688	3.17;3.17;3.17	3.03	0.15	0.14883	.	2.309850	0.02253	N	0.066799	T	0.06735	0.0172	N	0.22421	0.69	0.09310	N	1	B;B;B	0.09022	0.002;0.002;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.36359	-0.9751	10	0.49607	T	0.09	0.379	3.9014	0.09162	0.0:0.3595:0.3236:0.3169	.	617;648;702	Q8NCD3-3;Q8NCD3-2;Q8NCD3	.;.;HJURP_HUMAN	H	702;648;617	ENSP00000414109:D702H;ENSP00000407208:D648H;ENSP00000401944:D617H	ENSP00000414109:D702H	D	-	1	0	HJURP	234414061	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.282000	0.08445	0.013000	0.14918	-0.251000	0.11542	GAT		0.577	HJURP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000130996.6		NM_018410		28	36	0	0	0	1	0	28	36		
SNED1	25992	broad.mit.edu	37	2	242004846	242004846	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:242004846G>A	ENST00000310397.8	+	21	2845	c.2845G>A	c.(2845-2847)Gac>Aac	p.D949N	SNED1_ENST00000342631.6_Missense_Mutation_p.D949N|SNED1_ENST00000401884.1_Missense_Mutation_p.D949N|SNED1_ENST00000405547.3_Missense_Mutation_p.D949N|AC005237.4_ENST00000458377.1_RNA	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	949	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		CGTCTCCTCCGACGGCTCCTA	0.647																																						uc002wah.1		NaN																	0				breast(1)|central_nervous_system(1)	2						c.(2845-2847)GAC>AAC		6720455I24Rik homolog precursor							48.0	58.0	55.0					2																	242004846		2035	4178	6213	SO:0001583	missense	25992				cell-matrix adhesion	extracellular region	calcium ion binding	g.chr2:242004846G>A	AK074062	CCDS46562.1	2q37.3	2014-01-28			ENSG00000162804	ENSG00000162804		"""Fibronectin type III domain containing"""	24696	protein-coding gene	gene with protein product						12477932	Standard	NM_001080437		Approved	FLJ00133, SST3, Snep	uc002wah.1	Q8TER0	OTTHUMG00000151803	ENST00000310397.8:c.2845G>A	2.37:g.242004846G>A	ENSP00000308893:p.Asp949Asn					SNED1_uc002wai.1_Missense_Mutation_p.D184N|SNED1_uc002waj.1_Missense_Mutation_p.D36N|SNED1_uc002wak.2_Missense_Mutation_p.D36N	p.D949N	NM_001080437	NP_001073906	Q8TER0	SNED1_HUMAN		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)	21	2845	+		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)	949			Fibronectin type-III 1.		B5MDC3|B7WNK6|B7WPM0|Q336F4|Q336F5|Q8N369|Q8TEP7	Missense_Mutation	SNP	ENST00000310397.8	37	c.2845G>A	CCDS46562.1	.	.	.	.	.	.	.	.	.	.	G	18.06	3.540006	0.65085	.	.	ENSG00000162804	ENST00000401884;ENST00000405547;ENST00000310397;ENST00000342631	T;T;T;T	0.56103	0.48;0.48;0.48;0.48	4.8	4.8	0.61643	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.56097	D	0.000027	T	0.60728	0.2291	L	0.32530	0.975	0.37155	D	0.902318	D;D;D	0.89917	1.0;1.0;0.997	D;D;P	0.76071	0.96;0.987;0.825	T	0.60915	-0.7168	10	0.22706	T	0.39	.	16.0474	0.80727	0.0:0.0:1.0:0.0	.	949;949;949	Q8TER0-5;B5MEF5;Q8TER0	.;.;SNED1_HUMAN	N	949	ENSP00000384871:D949N;ENSP00000386007:D949N;ENSP00000308893:D949N;ENSP00000342992:D949N	ENSP00000308893:D949N	D	+	1	0	SNED1	241653519	1.000000	0.71417	0.408000	0.26446	0.077000	0.17291	5.551000	0.67274	2.226000	0.72624	0.655000	0.94253	GAC		0.647	SNED1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323935.2		XM_059482		11	20	0	0	0	1	0	11	20		
BPIFB4	149954	broad.mit.edu	37	20	31685467	31685467	+	Silent	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr20:31685467C>A	ENST00000375483.3	+	11	1443	c.1443C>A	c.(1441-1443)atC>atA	p.I481I		NM_182519.2	NP_872325.2	P59827	BPIB4_HUMAN	BPI fold containing family B, member 4	481						cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)										TCATCAGGATCCAGGTGCTGA	0.597																																						uc010zue.1		NaN																	0					0						c.(1441-1443)ATC>ATA		antimicrobial peptide RY2G5 precursor							162.0	138.0	146.0					20																	31685467		2203	4300	6503	SO:0001819	synonymous_variant	149954					cytoplasm|extracellular region	lipid binding	g.chr20:31685467C>A	AF549190	CCDS13213.2	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186191	ENSG00000186191		"""BPI fold containing"""	16179	protein-coding gene	gene with protein product		615718	"""chromosome 20 open reading frame 186"""	C20orf186		11971875, 21787333	Standard	NM_182519		Approved	dJ726C3.5, LPLUNC4	uc010zue.2	P59827	OTTHUMG00000032235	ENST00000375483.3:c.1443C>A	20.37:g.31685467C>A							p.I481I	NM_182519	NP_872325	P59827	LPLC4_HUMAN			11	1458	+			481					Q5TDX6	Silent	SNP	ENST00000375483.3	37	c.1443C>A	CCDS13213.2																																																																																				0.597	BPIFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078655.5		NM_182519		29	256	1	0	1.39806e-14	1	1.53379e-14	29	256		
C20orf144	128864	broad.mit.edu	37	20	32251484	32251484	+	Silent	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr20:32251484G>T	ENST00000375222.3	+	2	335	c.273G>T	c.(271-273)ccG>ccT	p.P91P	NECAB3_ENST00000606525.1_5'Flank|NECAB3_ENST00000246190.6_Intron|NECAB3_ENST00000375238.4_Intron|ACTL10_ENST00000330271.4_5'Flank	NM_080825.3	NP_543015.1	Q9BQM9	CT144_HUMAN	chromosome 20 open reading frame 144	91										lung(1)	1						AGCGCGAGCCGAGGATGCCGG	0.741																																						uc002wzs.1		NaN																	0					0						c.(271-273)CCG>CCT		hypothetical protein LOC128864							4.0	5.0	5.0					20																	32251484		1665	3441	5106	SO:0001819	synonymous_variant	128864							g.chr20:32251484G>T	AL121906	CCDS13223.1	20q11.22	2012-07-17			ENSG00000149609	ENSG00000149609			16137	protein-coding gene	gene with protein product	"""bcl-2-like protein from testis"""					11780052	Standard	NM_080825		Approved	dJ63M2.6, bclt	uc002wzs.2	Q9BQM9	OTTHUMG00000032263	ENST00000375222.3:c.273G>T	20.37:g.32251484G>T						NECAB3_uc002wzl.2_5'Flank|NECAB3_uc002wzm.3_Intron|NECAB3_uc002wzn.3_Intron|NECAB3_uc002wzo.3_Intron|NECAB3_uc002wzp.3_Intron|NECAB3_uc002wzq.3_Intron|NECAB3_uc002wzr.3_Intron|NECAB3_uc010geo.2_Intron|C20orf134_uc002wzt.2_5'Flank	p.P91P	NM_080825	NP_543015	Q9BQM9	CT144_HUMAN			2	305	+			91					Q1AHR2	Silent	SNP	ENST00000375222.3	37	c.273G>T	CCDS13223.1																																																																																				0.741	C20orf144-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078714.2		NM_080825		8	4	1	0	0.000157383	1	0.000160863	8	4		
C20orf144	128864	broad.mit.edu	37	20	32251518	32251518	+	Missense_Mutation	SNP	G	G	C	rs143664136	byFrequency	TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr20:32251518G>C	ENST00000375222.3	+	2	369	c.307G>C	c.(307-309)Gag>Cag	p.E103Q	NECAB3_ENST00000606525.1_5'Flank|NECAB3_ENST00000246190.6_Intron|NECAB3_ENST00000375238.4_Intron|ACTL10_ENST00000330271.4_5'Flank	NM_080825.3	NP_543015.1	Q9BQM9	CT144_HUMAN	chromosome 20 open reading frame 144	103										lung(1)	1						GCGGCGGCAAGAGGCGCGGCG	0.766																																						uc002wzs.1		NaN																	0					0						c.(307-309)GAG>CAG		hypothetical protein LOC128864							2.0	3.0	3.0					20																	32251518		1415	3234	4649	SO:0001583	missense	128864							g.chr20:32251518G>C	AL121906	CCDS13223.1	20q11.22	2012-07-17			ENSG00000149609	ENSG00000149609			16137	protein-coding gene	gene with protein product	"""bcl-2-like protein from testis"""					11780052	Standard	NM_080825		Approved	dJ63M2.6, bclt	uc002wzs.2	Q9BQM9	OTTHUMG00000032263	ENST00000375222.3:c.307G>C	20.37:g.32251518G>C	ENSP00000364370:p.Glu103Gln					NECAB3_uc002wzl.2_5'Flank|NECAB3_uc002wzm.3_Intron|NECAB3_uc002wzn.3_Intron|NECAB3_uc002wzo.3_Intron|NECAB3_uc002wzp.3_Intron|NECAB3_uc002wzq.3_Intron|NECAB3_uc002wzr.3_Intron|NECAB3_uc010geo.2_Intron|C20orf134_uc002wzt.2_5'Flank	p.E103Q	NM_080825	NP_543015	Q9BQM9	CT144_HUMAN			2	339	+			103					Q1AHR2	Missense_Mutation	SNP	ENST00000375222.3	37	c.307G>C	CCDS13223.1	.	.	.	.	.	.	.	.	.	.	G	11.39	1.625023	0.28889	.	.	ENSG00000149609	ENST00000375222	T	0.51817	0.69	3.8	2.8	0.32819	.	0.413434	0.20390	N	0.093271	T	0.34803	0.0910	N	0.14661	0.345	0.09310	N	1	P	0.50943	0.94	P	0.47981	0.563	T	0.12243	-1.0555	10	0.56958	D	0.05	-14.4295	9.1289	0.36833	0.0:0.2245:0.7755:0.0	.	103	Q9BQM9	CT144_HUMAN	Q	103	ENSP00000364370:E103Q	ENSP00000364370:E103Q	E	+	1	0	C20orf144	31715179	0.001000	0.12720	0.037000	0.18230	0.006000	0.05464	0.165000	0.16564	0.897000	0.36392	0.400000	0.26472	GAG		0.766	C20orf144-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078714.2		NM_080825		2	3	0	0	0	1	0	2	3		
RALY	22913	broad.mit.edu	37	20	32661429	32661429	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr20:32661429C>G	ENST00000246194.3	+	4	819	c.317C>G	c.(316-318)tCt>tGt	p.S106C	RALY_ENST00000375114.3_Missense_Mutation_p.S106C|RALY_ENST00000493399.1_3'UTR	NM_016732.2	NP_057951.1	Q9UKM9	RALY_HUMAN	RALY heterogeneous nuclear ribonucleoprotein	106					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						AGAGCAGCATCTGCCATATAC	0.517																																						uc002xab.2		NaN																	0				ovary(1)	1						c.(316-318)TCT>TGT		RNA binding protein (autoantigenic,							183.0	153.0	163.0					20																	32661429		2203	4300	6503	SO:0001583	missense	22913					catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr20:32661429C>G	AF148457	CCDS13229.1, CCDS13230.1	20q11.21-q11.23	2013-08-06	2013-08-06		ENSG00000125970	ENSG00000125970		"""RNA binding motif (RRM) containing"""	15921	protein-coding gene	gene with protein product		614663	"""RNA-binding protein (autoantigenic, hnRNP-associated with lethal yellow)"", ""RNA binding protein, autoantigenic (hnRNP-associated with lethal yellow homolog (mouse))"""			10500250, 23614458	Standard	NM_016732		Approved	P542, HNRPCL2	uc002xab.3	Q9UKM9	OTTHUMG00000032283	ENST00000246194.3:c.317C>G	20.37:g.32661429C>G	ENSP00000246194:p.Ser106Cys					RALY_uc010zui.1_Missense_Mutation_p.S106C|RALY_uc002xac.2_Missense_Mutation_p.S106C|RALY_uc002xad.2_RNA|RALY_uc002xae.1_Missense_Mutation_p.S106C	p.S106C	NM_016732	NP_057951	Q9UKM9	RALY_HUMAN			4	615	+			106					Q14621|Q2M365|Q5QPL8|Q9BQX6|Q9UJE3	Missense_Mutation	SNP	ENST00000246194.3	37	c.317C>G	CCDS13230.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.953251	0.73902	.	.	ENSG00000125970	ENST00000375114;ENST00000448364;ENST00000246194;ENST00000442805	T;T;T;T	0.11063	2.81;2.86;2.9;2.85	5.4	5.4	0.78164	.	0.303220	0.30076	N	0.010470	T	0.20536	0.0494	L	0.38175	1.15	0.37804	D	0.927816	P;P	0.51240	0.943;0.836	P;P	0.54499	0.754;0.572	T	0.00557	-1.1672	10	0.72032	D	0.01	-3.1578	18.9609	0.92677	0.0:1.0:0.0:0.0	.	106;106	Q9UKM9-2;Q9UKM9	.;RALY_HUMAN	C	106	ENSP00000364255:S106C;ENSP00000413638:S106C;ENSP00000246194:S106C;ENSP00000415973:S106C	ENSP00000246194:S106C	S	+	2	0	RALY	32125090	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.219000	0.51200	2.818000	0.97014	0.591000	0.81541	TCT		0.517	RALY-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078753.1				13	66	0	0	0	1	0	13	66		
TRPC4AP	26133	broad.mit.edu	37	20	33588881	33588881	+	IGR	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr20:33588881G>A	ENST00000252015.2	-	0	3226				MYH7B_ENST00000262873.7_Missense_Mutation_p.E1841K			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein						calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|protein ubiquitination (GO:0016567)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process (GO:0006511)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			GACGGTGCGCGAGCTCCAGGC	0.637																																						uc002xbi.1		NaN																	0				ovary(1)|breast(1)	2						c.(5521-5523)GAG>AAG		myosin, heavy polypeptide 7B, cardiac muscle,							34.0	44.0	41.0					20																	33588881		2201	4298	6499	SO:0001628	intergenic_variant	57644					membrane|myosin filament	actin binding|ATP binding|motor activity	g.chr20:33588881G>A	AF055022	CCDS13246.1, CCDS46591.1	20q11.23	2014-06-13	2003-10-06	2003-10-08	ENSG00000100991	ENSG00000100991			16181	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 158"""	608430	"""chromosome 20 open reading frame 188"""	C20orf188			Standard	NM_015638		Approved	DKFZP727M231, DKFZp586C1223, dJ756N5.2, TRRP4AP, PPP1R158	uc002xbk.3	Q8TEL6	OTTHUMG00000032319		20.37:g.33588881G>A							p.E1841K	NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00691)		39	5613	+			1799			Potential.		E1P5Q0|E1P5Q1|Q96H82|Q9BVB8|Q9H429|Q9UFS6	Missense_Mutation	SNP	ENST00000252015.2	37	c.5521G>A	CCDS13246.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.311365	0.81358	.	.	ENSG00000078814	ENST00000262873	D	0.86956	-2.19	4.55	4.55	0.56014	Myosin tail (1);	0.000000	0.38272	N	0.001756	D	0.87877	0.6288	M	0.84773	2.715	0.52501	D	0.999959	D	0.53151	0.958	B	0.38296	0.27	D	0.91268	0.5042	10	0.87932	D	0	.	17.5041	0.87740	0.0:0.0:1.0:0.0	.	1799	A7E2Y1	MYH7B_HUMAN	K	1841	ENSP00000262873:E1841K	ENSP00000262873:E1841K	E	+	1	0	MYH7B	33052542	1.000000	0.71417	0.997000	0.53966	0.559000	0.35586	9.652000	0.98499	2.368000	0.80403	0.462000	0.41574	GAG		0.637	TRPC4AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078832.2		NM_015638		10	53	0	0	0	1	0	10	53		
CEP250	11190	broad.mit.edu	37	20	34086527	34086527	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr20:34086527G>T	ENST00000397527.1	+	27	4479	c.3759G>T	c.(3757-3759)tgG>tgT	p.W1253C	CEP250_ENST00000342580.4_Missense_Mutation_p.W1197C	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	1253	Gln/Glu-rich.				centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			AAGACCTGTGGAAGACTCAAC	0.532																																						uc002xcm.2		NaN																	0				ovary(4)|central_nervous_system(1)	5						c.(3757-3759)TGG>TGT		centrosomal protein 2							97.0	96.0	96.0					20																	34086527		2203	4300	6503	SO:0001583	missense	11190				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding	g.chr20:34086527G>T	AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"""centrosomal protein 2"""	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.3759G>T	20.37:g.34086527G>T	ENSP00000380661:p.Trp1253Cys					CEP250_uc010zve.1_Missense_Mutation_p.W621C	p.W1253C	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0106)		28	4430	+	Lung NSC(9;0.00156)|all_lung(11;0.00243)		1253			Gln/Glu-rich.|Potential.		E1P5Q3|O14812|O60588|Q9H450	Missense_Mutation	SNP	ENST00000397527.1	37	c.3759G>T	CCDS13255.1	.	.	.	.	.	.	.	.	.	.	G	16.01	2.999957	0.54147	.	.	ENSG00000126001	ENST00000397527;ENST00000342580	T;T	0.10573	2.89;2.86	4.51	3.53	0.40419	.	0.701207	0.13079	N	0.415414	T	0.23532	0.0569	M	0.65975	2.015	0.49213	D	0.999768	D	0.56968	0.978	P	0.55785	0.784	T	0.01078	-1.1459	10	0.56958	D	0.05	.	10.2074	0.43120	0.0:0.2018:0.7982:0.0	.	1253	Q9BV73	CP250_HUMAN	C	1253;1197	ENSP00000380661:W1253C;ENSP00000341541:W1197C	ENSP00000341541:W1197C	W	+	3	0	CEP250	33549941	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	3.451000	0.52964	1.087000	0.41251	0.455000	0.32223	TGG		0.532	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078877.7		NM_007186		82	22	1	0	2.22156e-40	1	2.51595e-40	82	22		
AAR2	25980	broad.mit.edu	37	20	34828499	34828499	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr20:34828499G>C	ENST00000373932.3	+	2	1055	c.709G>C	c.(709-711)Gag>Cag	p.E237Q	AAR2_ENST00000320849.4_Missense_Mutation_p.E237Q|AAR2_ENST00000397286.3_Missense_Mutation_p.E237Q	NM_015511.3	NP_056326.2	Q9Y312	AAR2_HUMAN	AAR2 splicing factor homolog (S. cerevisiae)	237																	CTATGCCCTGGAGACTGTGCT	0.577																																						uc002xfc.1		NaN																	0					0						c.(709-711)GAG>CAG		hypothetical protein LOC25980							32.0	31.0	31.0					20																	34828499		2203	4300	6503	SO:0001583	missense	25980							g.chr20:34828499G>C		CCDS13273.1	20q11.23	2012-07-20	2012-07-20	2012-07-20	ENSG00000131043	ENSG00000131043			15886	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 4"""	C20orf4			Standard	NM_015511		Approved	bA234K24.2	uc002xfc.3	Q9Y312	OTTHUMG00000032380	ENST00000373932.3:c.709G>C	20.37:g.34828499G>C	ENSP00000363043:p.Glu237Gln					C20orf4_uc002xfd.1_Missense_Mutation_p.E237Q|C20orf4_uc002xfe.1_Missense_Mutation_p.E237Q	p.E237Q	NM_015511	NP_056326	Q9Y312	CT004_HUMAN			2	802	+	Breast(12;0.0162)	Myeloproliferative disorder(115;0.0393)	237					E1P5S7|Q9H4F9|Q9P1P3|Q9UFK9	Missense_Mutation	SNP	ENST00000373932.3	37	c.709G>C	CCDS13273.1	.	.	.	.	.	.	.	.	.	.	G	13.65	2.300650	0.40694	.	.	ENSG00000131043	ENST00000397286;ENST00000320849;ENST00000373932	T;T;T	0.46819	0.86;0.86;0.86	5.03	4.08	0.47627	.	0.335977	0.39146	N	0.001452	T	0.44561	0.1299	M	0.65498	2.005	0.28472	N	0.915395	B;B	0.34226	0.443;0.012	B;B	0.32149	0.141;0.058	T	0.39099	-0.9630	10	0.17832	T	0.49	.	15.1067	0.72326	0.0:0.2671:0.7329:0.0	.	237;237	A2A2Q9;Q9Y312	.;CT004_HUMAN	Q	237	ENSP00000380455:E237Q;ENSP00000313674:E237Q;ENSP00000363043:E237Q	ENSP00000313674:E237Q	E	+	1	0	C20orf4	34291913	1.000000	0.71417	0.996000	0.52242	0.987000	0.75469	3.643000	0.54374	1.500000	0.48636	-0.122000	0.15005	GAG		0.577	AAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079001.2		NM_015511		12	46	0	0	0	1	0	12	46		
TGIF2	60436	broad.mit.edu	37	20	35207317	35207317	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr20:35207317C>A	ENST00000373874.2	+	2	339	c.140C>A	c.(139-141)tCa>tAa	p.S47*	RP5-977B1.11_ENST00000561134.1_RNA|TGIF2_ENST00000373872.4_Nonsense_Mutation_p.S47*|TGIF2-C20orf24_ENST00000558530.1_Nonsense_Mutation_p.S47*	NM_001199514.1|NM_001199515.1	NP_001186443.1|NP_001186444.1	Q9GZN2	TGIF2_HUMAN	TGFB-induced factor homeobox 2	47					gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nodal signaling pathway (GO:0038092)|positive regulation of neuron differentiation (GO:0045666)|regulation of gastrulation (GO:0010470)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(3)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				GCCTACCCCTCAGAGCAGGAG	0.597																																						uc002xfn.2		NaN																	0				pancreas(1)|skin(1)	2						c.(139-141)TCA>TAA		TGFB-induced factor homeobox 2							111.0	92.0	98.0					20																	35207317		2203	4300	6503	SO:0001587	stop_gained	60436					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr20:35207317C>A	AB042646	CCDS13278.1	20q11.23	2012-12-12	2007-02-07		ENSG00000118707	ENSG00000118707		"""Homeoboxes / TALE class"""	15764	protein-coding gene	gene with protein product		607294	"""TGFB-induced factor 2 (TALE family homeobox)"""			11006116	Standard	NM_021809		Approved		uc021wcv.1	Q9GZN2	OTTHUMG00000172332	ENST00000373874.2:c.140C>A	20.37:g.35207317C>A	ENSP00000362981:p.Ser47*					C20orf24_uc002xfo.2_Nonsense_Mutation_p.S47*	p.S47*	NM_021809	NP_068581	Q9GZN2	TGIF2_HUMAN			2	313	+	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)	47			Homeobox; TALE-type.		B2R9U3|E1P5T9|H0YNI0	Nonsense_Mutation	SNP	ENST00000373874.2	37	c.140C>A	CCDS13278.1	.	.	.	.	.	.	.	.	.	.	C	39	7.766954	0.98477	.	.	ENSG00000118707	ENST00000373874;ENST00000373872	.	.	.	5.01	5.01	0.66863	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.4174	15.8254	0.78703	0.0:1.0:0.0:0.0	.	.	.	.	X	47	.	ENSP00000362979:S47X	S	+	2	0	TGIF2	34640731	1.000000	0.71417	0.996000	0.52242	0.978000	0.69477	7.374000	0.79633	2.316000	0.78162	0.561000	0.74099	TCA		0.597	TGIF2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079004.2		NM_021809		12	83	1	0	0.000151284	1	0.000155097	12	83		
CTNNBL1	56259	broad.mit.edu	37	20	36431427	36431427	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr20:36431427G>A	ENST00000361383.6	+	11	1307	c.1190G>A	c.(1189-1191)gGa>gAa	p.G397E	CTNNBL1_ENST00000473857.1_3'UTR|CTNNBL1_ENST00000373473.1_Missense_Mutation_p.G210E|CTNNBL1_ENST00000405275.2_Missense_Mutation_p.G370E|CTNNBL1_ENST00000373469.1_Missense_Mutation_p.G145E	NM_030877.3	NP_110517.2	Q8WYA6	CTBL1_HUMAN	catenin, beta like 1	397					apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|positive regulation of apoptotic process (GO:0043065)|RNA splicing (GO:0008380)|somatic diversification of immunoglobulins (GO:0016445)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|Prp19 complex (GO:0000974)|spliceosomal complex (GO:0005681)	enzyme binding (GO:0019899)			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(6)|lung(6)|ovary(3)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				AAGAAAGTGGGAACCACTGAG	0.428																																					Ovarian(184;582 2038 3273 4106 42608)	uc010zvw.1		NaN																	0				ovary(2)	2						c.(1189-1191)GGA>GAA		beta catenin-like 1							72.0	66.0	68.0					20																	36431427		2203	4300	6503	SO:0001583	missense	56259				apoptosis|positive regulation of apoptosis|somatic diversification of immunoglobulins	nucleus	enzyme binding	g.chr20:36431427G>A	AL023804	CCDS13298.1	20q11.23-q12	2011-06-03	2002-05-27	2002-05-31	ENSG00000132792	ENSG00000132792			15879	protein-coding gene	gene with protein product	"""nuclear associated protein"""	611537	"""chromosome 20 open reading frame 33"""	C20orf33		12659813, 21385873	Standard	NM_030877		Approved	FLJ21108, P14L, P14, NAP, NYD-SP19	uc021wdj.1	Q8WYA6	OTTHUMG00000032428	ENST00000361383.6:c.1190G>A	20.37:g.36431427G>A	ENSP00000355050:p.Gly397Glu					CTNNBL1_uc002xhh.2_Missense_Mutation_p.G210E|CTNNBL1_uc002xhi.2_RNA|CTNNBL1_uc002xhj.2_Missense_Mutation_p.G145E	p.G397E	NM_030877	NP_110517	Q8WYA6	CTBL1_HUMAN			12	1281	+		Myeloproliferative disorder(115;0.00878)	397					B4DE16|Q0VAL9|Q0VAM0|Q53HI8|Q5JWZ2|Q5JWZ3|Q5JWZ7|Q5JWZ8|Q8N454|Q8NCL2|Q8TBD6|Q96KD2|Q9H7A5|Q9NQF9|Q9NTX0|Q9Y3M7	Missense_Mutation	SNP	ENST00000361383.6	37	c.1190G>A	CCDS13298.1	.	.	.	.	.	.	.	.	.	.	G	13.07	2.126738	0.37533	.	.	ENSG00000132792	ENST00000361383;ENST00000405275;ENST00000373473;ENST00000373469	T;T;T;T	0.45276	0.91;0.9;0.93;0.92	5.72	5.72	0.89469	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.40015	0.1100	L	0.27053	0.805	0.80722	D	1	P;P	0.52061	0.737;0.95	B;P	0.51999	0.408;0.687	T	0.09335	-1.0679	10	0.02654	T	1	-20.9444	18.8811	0.92356	0.0:0.0:1.0:0.0	.	397;210	Q8WYA6;Q8WYA6-2	CTBL1_HUMAN;.	E	397;370;210;145	ENSP00000355050:G397E;ENSP00000384355:G370E;ENSP00000362572:G210E;ENSP00000362568:G145E	ENSP00000355050:G397E	G	+	2	0	CTNNBL1	35864841	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.750000	0.98875	2.702000	0.92279	0.462000	0.41574	GGA		0.428	CTNNBL1-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079125.1		NM_030877		10	26	0	0	0	1	0	10	26		
RALGAPB	57148	broad.mit.edu	37	20	37191299	37191299	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr20:37191299G>T	ENST00000262879.6	+	24	3940	c.3656G>T	c.(3655-3657)tGg>tTg	p.W1219L	RALGAPB_ENST00000397042.3_Missense_Mutation_p.W1215L|RALGAPB_ENST00000397038.1_Missense_Mutation_p.W997L|RALGAPB_ENST00000397040.1_Missense_Mutation_p.W1219L			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	1219	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TCTACCAGTTGGTCTATTAAT	0.403																																						uc002xiw.2		NaN																	0				pancreas(1)|skin(1)	2						c.(3655-3657)TGG>TTG		Ral GTPase activating protein, beta subunit							182.0	160.0	167.0					20																	37191299		2203	4300	6503	SO:0001583	missense	57148				activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:37191299G>T	AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"""KIAA1219"""	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.3656G>T	20.37:g.37191299G>T	ENSP00000262879:p.Trp1219Leu					RALGAPB_uc002xix.2_Missense_Mutation_p.W1215L|RALGAPB_uc002xiy.1_Intron|RALGAPB_uc002xiz.2_Missense_Mutation_p.W997L	p.W1219L	NM_020336	NP_065069	Q86X10	RLGPB_HUMAN			24	3913	+			1219			Rap-GAP.		A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Missense_Mutation	SNP	ENST00000262879.6	37	c.3656G>T	CCDS13305.1	.	.	.	.	.	.	.	.	.	.	G	34	5.350219	0.95830	.	.	ENSG00000170471	ENST00000262879;ENST00000397042;ENST00000397038;ENST00000397040;ENST00000438490	D;D;D;D;D	0.93426	-3.22;-3.22;-3.22;-3.22;-3.22	5.8	5.8	0.92144	Rap/ran-GAP (1);	0.000000	0.85682	D	0.000000	D	0.95921	0.8672	L	0.58428	1.81	0.80722	D	1	D;D	0.57899	0.981;0.981	D;D	0.70487	0.969;0.969	D	0.94452	0.7668	10	0.35671	T	0.21	.	20.0693	0.97712	0.0:0.0:1.0:0.0	.	1215;1219	A2A2E9;Q86X10	.;RLGPB_HUMAN	L	1219;1215;997;1219;1047	ENSP00000262879:W1219L;ENSP00000380235:W1215L;ENSP00000380231:W997L;ENSP00000380233:W1219L;ENSP00000416646:W1047L	ENSP00000262879:W1219L	W	+	2	0	RALGAPB	36624713	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.476000	0.97823	2.758000	0.94735	0.563000	0.77884	TGG		0.403	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079191.1		NM_020336		42	43	1	0	2.59497e-14	1	2.84078e-14	42	43		
SLC32A1	140679	broad.mit.edu	37	20	37353648	37353648	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr20:37353648C>T	ENST00000217420.1	+	1	544	c.281C>T	c.(280-282)cCg>cTg	p.P94L		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	94					aging (GO:0007568)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell tip (GO:0051286)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cone cell pedicle (GO:0044316)|dendrite (GO:0030425)|dendrite terminus (GO:0044292)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	gamma-aminobutyric acid:proton symporter activity (GO:0015495)|glycine transmembrane transporter activity (GO:0015187)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	GCTCCTCTGCCGCCCTCCGGC	0.662																																						uc002xjc.2		NaN																	0					0						c.(280-282)CCG>CTG		solute carrier family 32, member 1	Glycine(DB00145)						32.0	37.0	35.0					20																	37353648		2184	4273	6457	SO:0001583	missense	140679				neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity	g.chr20:37353648C>T	AL133519	CCDS13307.1	20q11	2013-05-22			ENSG00000101438	ENSG00000101438		"""Solute carriers"""	11018	protein-coding gene	gene with protein product			"""vesicular inhibitory amino acid transporter"""	VIAAT		19843525	Standard	NM_080552		Approved	VGAT, bA122O1.1	uc002xjc.3	Q9H598	OTTHUMG00000032457	ENST00000217420.1:c.281C>T	20.37:g.37353648C>T	ENSP00000217420:p.Pro94Leu						p.P94L	NM_080552	NP_542119	Q9H598	VIAAT_HUMAN			1	544	+		Myeloproliferative disorder(115;0.00878)	94			Cytoplasmic (Potential).		Q8N489	Missense_Mutation	SNP	ENST00000217420.1	37	c.281C>T	CCDS13307.1	.	.	.	.	.	.	.	.	.	.	C	13.82	2.350134	0.41599	.	.	ENSG00000101438	ENST00000217420	T	0.07021	3.23	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	T	0.05410	0.0143	N	0.08118	0	0.80722	D	1	B	0.14438	0.01	B	0.06405	0.002	T	0.44726	-0.9309	10	0.30078	T	0.28	-27.9222	15.7015	0.77544	0.0:1.0:0.0:0.0	.	94	Q9H598	VIAAT_HUMAN	L	94	ENSP00000217420:P94L	ENSP00000217420:P94L	P	+	2	0	SLC32A1	36787062	1.000000	0.71417	0.995000	0.50966	0.016000	0.09150	2.390000	0.44416	2.300000	0.77407	0.561000	0.74099	CCG		0.662	SLC32A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079206.1		NM_080552		13	45	0	0	0	1	0	13	45		
GTSF1L	149699	broad.mit.edu	37	20	42355269	42355269	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr20:42355269G>A	ENST00000373003.1	-	1	369	c.66C>T	c.(64-66)ttC>ttT	p.F22F	GTSF1L_ENST00000373005.2_Silent_p.F22F	NM_001008901.1|NM_176791.3	NP_001008901.1|NP_789761.1	Q9H1H1	GTSFL_HUMAN	gametocyte specific factor 1-like	22							metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			GGTGGTACTGGAATCTGCTGA	0.493																																						uc002xld.2		NaN																	0					0						c.(64-66)TTC>TTT		gametocyte specific factor 1-like isoform 1							121.0	119.0	120.0					20																	42355269		2203	4300	6503	SO:0001819	synonymous_variant	149699						metal ion binding	g.chr20:42355269G>A	AK058060	CCDS13323.1, CCDS33471.1	20q13.12	2007-11-27	2007-11-27	2007-11-27	ENSG00000124196	ENSG00000124196			16198	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 65"", ""family with sequence similarity 112, member A"""	C20orf65, FAM112A			Standard	NM_176791		Approved	dJ1028D15.4	uc002xld.3	Q9H1H1	OTTHUMG00000032510	ENST00000373003.1:c.66C>T	20.37:g.42355269G>A						GTSF1L_uc002xlc.2_Silent_p.F22F	p.F22F	NM_176791	NP_789761	Q9H1H1	GTSFL_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)		1	374	-		Myeloproliferative disorder(115;0.00452)	22			CHHC-type.		Q5JWH5	Silent	SNP	ENST00000373003.1	37	c.66C>T	CCDS13323.1																																																																																				0.493	GTSF1L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079313.1		NM_176791		36	87	0	0	0	1	0	36	87		
KCNS1	3787	broad.mit.edu	37	20	43723710	43723710	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr20:43723710G>A	ENST00000306117.1	-	5	1778	c.1382C>T	c.(1381-1383)tCc>tTc	p.S461F	KCNS1_ENST00000537075.1_Missense_Mutation_p.S461F	NM_002251.3	NP_002242.2	Q96KK3	KCNS1_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 1	461					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel regulator activity (GO:0015459)			endometrium(1)|lung(3)|ovary(1)|stomach(1)	6		Myeloproliferative disorder(115;0.0122)				GTAGAAGTGGGAGAACTTGTT	0.597																																						uc002xnc.2		NaN																	0					0						c.(1381-1383)TCC>TTC		potassium voltage-gated channel							107.0	101.0	103.0					20																	43723710		2203	4300	6503	SO:0001583	missense	3787					voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity|protein binding	g.chr20:43723710G>A	AF043473	CCDS13342.1	20q12	2011-07-05			ENSG00000124134	ENSG00000124134		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6300	protein-coding gene	gene with protein product		602905				9305895, 16382104	Standard	NM_002251		Approved	Kv9.1	uc002xnc.3	Q96KK3	OTTHUMG00000033079	ENST00000306117.1:c.1382C>T	20.37:g.43723710G>A	ENSP00000307694:p.Ser461Phe					KCNS1_uc002xnd.2_Missense_Mutation_p.S461F	p.S461F	NM_002251	NP_002242	Q96KK3	KCNS1_HUMAN			5	1779	-		Myeloproliferative disorder(115;0.0122)	461			Cytoplasmic (Potential).		A2RUL9|B7ZM31|O43652|Q6DJU6	Missense_Mutation	SNP	ENST00000306117.1	37	c.1382C>T	CCDS13342.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.895594	0.91962	.	.	ENSG00000124134	ENST00000306117;ENST00000537075	D;D	0.97831	-4.56;-4.56	5.57	5.57	0.84162	.	0.117279	0.64402	D	0.000010	D	0.97666	0.9235	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.99597	1.0977	10	0.87932	D	0	.	19.142	0.93449	0.0:0.0:1.0:0.0	.	461	Q96KK3	KCNS1_HUMAN	F	461	ENSP00000307694:S461F;ENSP00000445595:S461F	ENSP00000307694:S461F	S	-	2	0	KCNS1	43157124	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.853000	0.99521	2.619000	0.88677	0.561000	0.74099	TCC		0.597	KCNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080507.3		NM_002251		10	131	0	0	0	1	0	10	131		
MATN4	8785	broad.mit.edu	37	20	43933045	43933045	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr20:43933045C>T	ENST00000372754.1	-	2	474	c.466G>A	c.(466-468)Gag>Aag	p.E156K	RBPJL_ENST00000372741.3_5'Flank|MATN4_ENST00000372756.1_Missense_Mutation_p.E156K|RBPJL_ENST00000343694.3_5'Flank|MATN4_ENST00000372751.4_Intron|MATN4_ENST00000353917.5_Missense_Mutation_p.E156K|RBPJL_ENST00000372743.1_5'Flank|MATN4_ENST00000360607.6_Missense_Mutation_p.E156K|MATN4_ENST00000342716.4_Missense_Mutation_p.E156K|MATN4_ENST00000537548.1_Missense_Mutation_p.E156K			O95460	MATN4_HUMAN	matrilin 4	156	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|response to axon injury (GO:0048678)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				GCCGCCACCTCGGCCACGCGG	0.746																																						uc002xnn.2		NaN																	0					0						c.(466-468)GAG>AAG		matrilin 4 isoform 1 precursor							6.0	8.0	7.0					20																	43933045		2076	4006	6082	SO:0001583	missense	8785					extracellular region	protein binding	g.chr20:43933045C>T	AJ007581	CCDS13348.1, CCDS46607.1	20q13.1-q13.2	2008-07-07			ENSG00000124159	ENSG00000124159			6910	protein-coding gene	gene with protein product		603897				9827539, 9027493	Standard	NM_003833		Approved		uc002xnn.2	O95460	OTTHUMG00000033043	ENST00000372754.1:c.466G>A	20.37:g.43933045C>T	ENSP00000361840:p.Glu156Lys					MATN4_uc002xno.2_Missense_Mutation_p.E156K|MATN4_uc002xnp.2_Missense_Mutation_p.E156K|MATN4_uc010zwr.1_Missense_Mutation_p.E104K|MATN4_uc002xnr.1_Missense_Mutation_p.E156K|RBPJL_uc002xns.2_5'Flank|RBPJL_uc002xnt.2_5'Flank	p.E156K	NM_003833	NP_003824	O95460	MATN4_HUMAN			3	653	-		Myeloproliferative disorder(115;0.0122)	156			VWFA 1.		A6NH94|A6NKN5|Q5QPU2|Q5QPU3|Q5QPU4|Q8N2M5|Q8N2M7|Q9H1F8|Q9H1F9	Missense_Mutation	SNP	ENST00000372754.1	37	c.466G>A		.	.	.	.	.	.	.	.	.	.	C	23.7	4.442320	0.83993	.	.	ENSG00000124159	ENST00000372754;ENST00000372756;ENST00000353917;ENST00000360607;ENST00000342716;ENST00000537548;ENST00000255132	D;D;D;D;D;D	0.83250	-1.7;-1.7;-1.7;-1.7;-1.7;-1.7	4.77	3.83	0.44106	.	0.000000	0.44285	D	0.000463	D	0.84946	0.5585	L	0.56769	1.78	0.80722	D	1	P;D;P	0.57257	0.768;0.979;0.814	B;P;B	0.53722	0.187;0.733;0.396	D	0.85654	0.1284	10	0.59425	D	0.04	.	12.1197	0.53885	0.0:0.917:0.0:0.083	.	156;156;156	A6NNA4;O95460-4;O95460-2	.;.;.	K	156	ENSP00000361840:E156K;ENSP00000361842:E156K;ENSP00000243983:E156K;ENSP00000353819:E156K;ENSP00000343164:E156K;ENSP00000440328:E156K	ENSP00000255132:E156K	E	-	1	0	MATN4	43366459	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	5.860000	0.69546	1.258000	0.44101	0.456000	0.33151	GAG		0.746	MATN4-002	KNOWN	non_canonical_conserved|non_canonical_U12|not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000080335.1				4	20	0	0	0	1	0	4	20		
CEBPB	1051	broad.mit.edu	37	20	48807986	48807986	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr20:48807986A>G	ENST00000303004.3	+	1	611	c.416A>G	c.(415-417)tAc>tGc	p.Y139C		NM_005194.3	NP_005185.2	P17676	CEBPB_HUMAN	CCAAT/enhancer binding protein (C/EBP), beta	139					acute-phase response (GO:0006953)|brown fat cell differentiation (GO:0050873)|cellular response to amino acid stimulus (GO:0071230)|embryonic placenta development (GO:0001892)|immune response (GO:0006955)|inflammatory response (GO:0006954)|mammary gland epithelial cell differentiation (GO:0060644)|mammary gland epithelial cell proliferation (GO:0033598)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of interleukin-6 biosynthetic process (GO:0045408)|regulation of transcription involved in cell fate commitment (GO:0060850)|regulation of transcription, DNA-templated (GO:0006355)|response to endoplasmic reticulum stress (GO:0034976)|response to lipopolysaccharide (GO:0032496)|transcription from RNA polymerase II promoter (GO:0006366)	condensed chromosome, centromeric region (GO:0000779)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|lung(1)	2			BRCA - Breast invasive adenocarcinoma(9;5.72e-08)|STAD - Stomach adenocarcinoma(23;0.19)			GAGTACGGCTACGTGAGCCTG	0.761																																						uc002xvi.1		NaN																	0					0						c.(415-417)TAC>TGC		CCAAT/enhancer binding protein beta							4.0	4.0	4.0					20																	48807986		1959	3877	5836	SO:0001583	missense	1051				acute-phase response|immune response		sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr20:48807986A>G	AY193834	CCDS13429.1	20q13.1	2013-01-10			ENSG00000172216	ENSG00000172216		"""basic leucine zipper proteins"""	1834	protein-coding gene	gene with protein product	"""liver-enriched transcriptional activator protein"", ""nuclear factor of interleukin 6"", ""interleukin 6-dependent DNA-binding protein"""	189965		TCF5		1535333, 1840554	Standard	NM_005194		Approved	LAP, CRP2, NFIL6, IL6DBP, C/EBP-beta	uc002xvi.2	P17676	OTTHUMG00000032715	ENST00000303004.3:c.416A>G	20.37:g.48807986A>G	ENSP00000305422:p.Tyr139Cys					CEBPB_uc002xvh.2_RNA	p.Y139C	NM_005194	NP_005185	P17676	CEBPB_HUMAN	BRCA - Breast invasive adenocarcinoma(9;5.72e-08)|STAD - Stomach adenocarcinoma(23;0.19)		1	611	+			139					A8K671|Q96IH2|Q9H4Z5	Missense_Mutation	SNP	ENST00000303004.3	37	c.416A>G	CCDS13429.1	.	.	.	.	.	.	.	.	.	.	A	14.09	2.431853	0.43122	.	.	ENSG00000172216	ENST00000303004	T	0.45276	0.9	3.05	3.05	0.35203	.	0.430200	0.17842	U	0.160163	T	0.29976	0.0750	L	0.29908	0.895	0.49687	D	0.999813	B	0.12630	0.006	B	0.12156	0.007	T	0.10428	-1.0630	10	0.44086	T	0.13	-8.0379	9.9852	0.41837	1.0:0.0:0.0:0.0	.	139	P17676	CEBPB_HUMAN	C	139	ENSP00000305422:Y139C	ENSP00000305422:Y139C	Y	+	2	0	CEBPB	48241393	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	3.665000	0.54532	1.283000	0.44513	0.254000	0.18369	TAC		0.761	CEBPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079672.1		NM_005194		2	0	0	0	0	1	0	2	0		
LSM14B	149986	broad.mit.edu	37	20	60708371	60708371	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr20:60708371G>C	ENST00000279068.6	+	8	1172	c.1012G>C	c.(1012-1014)Gag>Cag	p.E338Q	LSM14B_ENST00000253001.4_Missense_Mutation_p.E338Q	NM_144703.2	NP_653304.2	Q9BX40	LS14B_HUMAN	LSM14B, SCD6 homolog B (S. cerevisiae)	338					multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)	ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|lung(4)	8	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.28e-07)			GTGGGCCGAAGAGAGGAAGCT	0.612																																						uc010gjy.1		NaN																	0					0						c.(1012-1014)GAG>CAG		LSM14 homolog B							103.0	122.0	115.0					20																	60708371		2009	4151	6160	SO:0001583	missense	149986				multicellular organismal development|regulation of translation	ribonucleoprotein complex		g.chr20:60708371G>C	AF172328	CCDS46626.1	20q13.33	2010-01-27	2006-12-21	2006-01-24	ENSG00000149657	ENSG00000149657			15887	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 40"", ""family with sequence similarity 61, member B"", ""LSM14 homolog B (SCD6, S. cerevisiae)"""	C20orf40, FAM61B			Standard	NM_144703		Approved	FT005, bA11M20.3, FLJ25473, LSM13, RAP55B	uc010gjy.1	Q9BX40	OTTHUMG00000032901	ENST00000279068.6:c.1012G>C	20.37:g.60708371G>C	ENSP00000279068:p.Glu338Gln					LSM14B_uc002ybv.2_Missense_Mutation_p.E312Q|LSM14B_uc010zzz.1_Missense_Mutation_p.E258Q	p.E338Q	NM_144703	NP_653304	Q9BX40	LS14B_HUMAN	BRCA - Breast invasive adenocarcinoma(19;1.28e-07)		8	1218	+	Breast(26;3.97e-09)		338			TFG box.		Q6PFW8|Q96LH8	Missense_Mutation	SNP	ENST00000279068.6	37	c.1012G>C	CCDS46626.1	.	.	.	.	.	.	.	.	.	.	G	19.37	3.814469	0.70912	.	.	ENSG00000149657	ENST00000279068;ENST00000253001	T;T	0.57752	0.38;0.39	5.14	4.19	0.49359	FFD/TFG box motif (1);	0.000000	0.85682	D	0.000000	T	0.64349	0.2590	L	0.53249	1.67	0.51767	D	0.999933	D;D;D	0.69078	0.994;0.978;0.997	D;P;D	0.66196	0.927;0.832;0.942	T	0.67321	-0.5700	10	0.87932	D	0	.	11.4946	0.50400	0.0837:0.0:0.9163:0.0	.	258;338;338	E9PG81;Q9BX40;Q9BX40-2	.;LS14B_HUMAN;.	Q	338	ENSP00000279068:E338Q;ENSP00000253001:E338Q	ENSP00000253001:E338Q	E	+	1	0	LSM14B	60141766	1.000000	0.71417	0.909000	0.35828	0.435000	0.31806	9.284000	0.95882	1.397000	0.46682	0.655000	0.94253	GAG		0.612	LSM14B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079996.4		NM_144703		34	44	0	0	0	1	0	34	44		
ZBTB46	140685	broad.mit.edu	37	20	62421402	62421402	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr20:62421402G>A	ENST00000245663.4	-	2	859	c.709C>T	c.(709-711)Cag>Tag	p.Q237*	ZBTB46_ENST00000302995.2_Nonsense_Mutation_p.Q237*|ZBTB46_ENST00000480766.1_5'Flank|ZBTB46_ENST00000395104.1_Nonsense_Mutation_p.Q237*	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	237					negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of monocyte differentiation (GO:0045656)|positive regulation of dendritic cell differentiation (GO:2001200)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					CCTCCGTACTGAGACGGTGAA	0.597																																						uc002ygv.1		NaN																	0				large_intestine(1)|ovary(1)	2						c.(709-711)CAG>TAG		zinc finger and BTB domain containing 46							82.0	75.0	78.0					20																	62421402		2203	4300	6503	SO:0001587	stop_gained	140685				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr20:62421402G>A	AK131482	CCDS13538.1	20q13.33	2013-01-08	2006-09-19	2006-09-19	ENSG00000130584	ENSG00000130584		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	16094	protein-coding gene	gene with protein product	"""BTB-ZF protein expressed in effector lymphocytes"""	614639	"""BTB (POZ) domain containing 4"""	ZNF340, BTBD4			Standard	NM_025224		Approved	FLJ13502, RINZF, BZEL	uc002ygv.2	Q86UZ6	OTTHUMG00000033001	ENST00000245663.4:c.709C>T	20.37:g.62421402G>A	ENSP00000245663:p.Gln237*					ZBTB46_uc002ygu.2_RNA	p.Q237*	NM_025224	NP_079500	Q86UZ6	ZBT46_HUMAN			2	910	-	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)		237					E1P5K9|Q5JWJ3|Q6GMV4|Q9BQK3|Q9H3Z8|Q9H3Z9	Nonsense_Mutation	SNP	ENST00000245663.4	37	c.709C>T	CCDS13538.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.576703	0.86645	.	.	ENSG00000130584	ENST00000245663;ENST00000302995;ENST00000395104	.	.	.	5.8	5.8	0.92144	.	0.224693	0.43110	D	0.000608	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	.	12.3633	0.55215	0.0765:0.0:0.9235:0.0	.	.	.	.	X	237	.	ENSP00000245663:Q237X	Q	-	1	0	ZBTB46	61891846	0.992000	0.36948	0.026000	0.17262	0.006000	0.05464	3.265000	0.51561	2.749000	0.94314	0.655000	0.94253	CAG		0.597	ZBTB46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080232.2		NM_025224		4	50	0	0	0	1	0	4	50		
ZNF512B	57473	broad.mit.edu	37	20	62654184	62654184	+	Intron	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr20:62654184G>C	ENST00000450537.1	-	1	56				ZNF512B_ENST00000217130.3_Intron|PRPF6_ENST00000535781.1_Missense_Mutation_p.K574N			Q96KM6	Z512B_HUMAN	zinc finger protein 512B						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)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CCAGCAAGAAGAGTGTGTGGC	0.582																																						uc002yho.2		NaN																	0				ovary(2)	2						c.(1720-1722)AAG>AAC		PRP6 pre-mRNA processing factor 6 homolog							124.0	101.0	109.0					20																	62654184		2203	4300	6503	SO:0001627	intron_variant	24148				assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity	g.chr20:62654184G>C	AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.4+25873C>G	20.37:g.62654184G>C						PRPF6_uc002yhp.2_Missense_Mutation_p.K574N	p.K574N	NM_012469	NP_036601	O94906	PRP6_HUMAN			13	1890	+	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)		574			HAT 4.		Q08AK9|Q9ULM4	Missense_Mutation	SNP	ENST00000450537.1	37	c.1722G>C	CCDS13548.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.098114	0.76870	.	.	ENSG00000101161	ENST00000266079;ENST00000535781	T;T	0.33654	1.4;1.4	5.93	4.98	0.66077	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.64768	0.2628	M	0.91972	3.26	0.80722	D	1	D;D	0.71674	0.998;0.984	D;P	0.68483	0.958;0.758	T	0.71682	-0.4519	10	0.59425	D	0.04	.	11.3487	0.49575	0.1464:0.0:0.8536:0.0	.	574;574	O94906-2;O94906	.;PRP6_HUMAN	N	574	ENSP00000266079:K574N;ENSP00000446216:K574N	ENSP00000266079:K574N	K	+	3	2	PRPF6	62124628	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.975000	0.40569	1.490000	0.48466	0.561000	0.74099	AAG		0.582	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080246.1		NM_020713		19	58	0	0	0	1	0	19	58		
TPTE	7179	broad.mit.edu	37	21	10942732	10942732	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr21:10942732G>C	ENST00000361285.4	-	13	1038	c.709C>G	c.(709-711)Cta>Gta	p.L237V	TPTE_ENST00000298232.7_Missense_Mutation_p.L219V|TPTE_ENST00000342420.5_Missense_Mutation_p.L199V|TPTE_ENST00000415664.2_5'UTR	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	237	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GTGAGGTCTAGGTCAAATCCA	0.323																																						uc002yip.1		NaN																	0				ovary(2)|lung(1)|breast(1)|skin(1)	5						c.(709-711)CTA>GTA		transmembrane phosphatase with tensin homology							491.0	427.0	449.0					21																	10942732		2203	4300	6503	SO:0001583	missense	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10942732G>C	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.709C>G	21.37:g.10942732G>C	ENSP00000355208:p.Leu237Val					TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.L219V|TPTE_uc002yir.1_Missense_Mutation_p.L199V|TPTE_uc010gkv.1_Missense_Mutation_p.L99V	p.L237V	NM_199261	NP_954870	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	13	1077	-			237			Phosphatase tensin-type.		B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	c.709C>G	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	13.06	2.124832	0.37533	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.98684	-5.07;-5.07;-5.07	2.07	0.96	0.19631	Phosphatase tensin type (1);	0.000000	0.64402	U	0.000001	D	0.98604	0.9533	M	0.81341	2.54	0.48185	D	0.999604	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;0.999;1.0	D	0.97448	1.0026	10	0.66056	D	0.02	-10.6316	5.1928	0.15218	0.2744:0.0:0.7256:0.0	.	199;219;237	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	V	219;237;199	ENSP00000298232:L219V;ENSP00000355208:L237V;ENSP00000344441:L199V	ENSP00000298232:L219V	L	-	1	2	TPTE	9964603	1.000000	0.71417	0.999000	0.59377	0.511000	0.34104	4.552000	0.60747	0.292000	0.22492	0.194000	0.17425	CTA		0.323	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1				41	289	0	0	0	1	0	41	289		
LTN1	26046	broad.mit.edu	37	21	30307437	30307437	+	Silent	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr21:30307437G>T	ENST00000361371.5	-	27	4948	c.4869C>A	c.(4867-4869)ggC>ggA	p.G1623G	LTN1_ENST00000389194.2_Silent_p.G1669G			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	1623					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.G1623G(1)		NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						TAACCGTCATGCCATTAAATA	0.313																																						uc002ymr.2		NaN																	1	Substitution - coding silent(1)		upper_aerodigestive_tract(1)		0						c.(5005-5007)GGC>GGA		zinc finger protein 294							79.0	73.0	75.0					21																	30307437		2203	4300	6503	SO:0001819	synonymous_variant	26046						ligase activity|zinc ion binding	g.chr21:30307437G>T	AK001915	CCDS33527.1, CCDS33527.2	21q21.3	2013-01-09	2010-09-17	2010-09-17	ENSG00000198862	ENSG00000198862		"""RING-type (C3HC4) zinc fingers"""	13082	protein-coding gene	gene with protein product	"""listerin"""	613083	"""chromosome 21 open reading frame 98"", ""zinc finger protein 294"", ""ring finger protein 160"""	C21orf98, C21orf10, ZNF294, RNF160		20835226, 19196968	Standard	NM_015565		Approved	KIAA0714, FLJ11053, LISTERIN	uc002ymr.2	O94822	OTTHUMG00000078803	ENST00000361371.5:c.4869C>A	21.37:g.30307437G>T							p.G1669G	NM_015565	NP_056380	O94822	LTN1_HUMAN			27	5020	-			1623					A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Silent	SNP	ENST00000361371.5	37	c.5007C>A																																																																																					0.313	LTN1-008	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000472108.1		NM_015565		13	47	1	0	4.36969e-10	1	4.67295e-10	13	47		
USP16	10600	broad.mit.edu	37	21	30419060	30419060	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr21:30419060G>C	ENST00000334352.4	+	15	1660	c.1429G>C	c.(1429-1431)Gaa>Caa	p.E477Q	USP16_ENST00000535828.1_Missense_Mutation_p.E106Q|USP16_ENST00000399975.3_Missense_Mutation_p.E476Q|USP16_ENST00000399976.2_Missense_Mutation_p.E477Q	NM_001032410.1	NP_001027582.1			ubiquitin specific peptidase 16											breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(2)	34						TGACCATCCTGAAGACAGTGA	0.318																																					Melanoma(92;625 1444 27493 34101 44971)	uc002ymy.2		NaN																	0				ovary(2)|breast(1)|pancreas(1)	4						c.(1429-1431)GAA>CAA		ubiquitin specific protease 16 isoform a							49.0	49.0	49.0					21																	30419060		2203	4297	6500	SO:0001583	missense	10600				cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr21:30419060G>C	AF126736	CCDS13583.1, CCDS42912.1	21q21	2008-04-11	2005-08-08		ENSG00000156256	ENSG00000156256		"""Ubiquitin-specific peptidases"""	12614	protein-coding gene	gene with protein product		604735	"""ubiquitin specific protease 16"""			12838346	Standard	NM_006447		Approved	Ubp-M	uc002ymy.3	Q9Y5T5	OTTHUMG00000078802	ENST00000334352.4:c.1429G>C	21.37:g.30419060G>C	ENSP00000334808:p.Glu477Gln					USP16_uc002ymx.2_Missense_Mutation_p.E476Q|USP16_uc002ymw.2_Missense_Mutation_p.E477Q|USP16_uc011acm.1_Missense_Mutation_p.E462Q|USP16_uc011acn.1_Missense_Mutation_p.E143Q|USP16_uc011aco.1_Missense_Mutation_p.E167Q	p.E477Q	NM_006447	NP_006438	Q9Y5T5	UBP16_HUMAN			14	1631	+			477						Missense_Mutation	SNP	ENST00000334352.4	37	c.1429G>C	CCDS13583.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.248352	0.80024	.	.	ENSG00000156256	ENST00000399975;ENST00000399976;ENST00000334352;ENST00000535828	T;T;T;T	0.32272	3.04;3.04;3.04;1.46	5.29	5.29	0.74685	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.113072	0.64402	D	0.000012	T	0.48484	0.1502	L	0.47190	1.495	0.58432	D	0.999998	D;D;D;D	0.60575	0.988;0.958;0.98;0.984	P;P;P;D	0.63703	0.831;0.707;0.865;0.917	T	0.26258	-1.0108	10	0.41790	T	0.15	.	19.1301	0.93402	0.0:0.0:1.0:0.0	.	106;462;476;477	B4DUS4;Q9Y5T5-3;Q9Y5T5-2;Q9Y5T5	.;.;.;UBP16_HUMAN	Q	476;477;477;106	ENSP00000382857:E476Q;ENSP00000382858:E477Q;ENSP00000334808:E477Q;ENSP00000442855:E106Q	ENSP00000334808:E477Q	E	+	1	0	USP16	29340931	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	4.276000	0.58933	2.767000	0.95098	0.655000	0.94253	GAA		0.318	USP16-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171847.1				9	51	0	0	0	1	0	9	51		
EVA1C	59271	broad.mit.edu	37	21	33876247	33876247	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr21:33876247G>C	ENST00000300255.2	+	7	1344	c.871G>C	c.(871-873)Gac>Cac	p.D291H	EVA1C_ENST00000401402.3_Missense_Mutation_p.D243H|EVA1C_ENST00000485488.1_3'UTR|EVA1C_ENST00000382699.3_Missense_Mutation_p.D288H	NM_058187.3	NP_478067.2	P58658	EVA1C_HUMAN	eva-1 homolog C (C. elegans)	291						integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)										TATAAACTTCGACCCAAGCGG	0.443																																						uc002ypr.1		NaN																	0				ovary(2)|pancreas(1)	3						c.(871-873)GAC>CAC		hypothetical protein LOC59271 precursor							124.0	121.0	122.0					21																	33876247		2203	4300	6503	SO:0001583	missense	59271					integral to membrane	sugar binding	g.chr21:33876247G>C	AF358258	CCDS13614.1, CCDS68186.1	21q22.11	2012-11-05	2012-11-05	2012-11-05	ENSG00000166979	ENSG00000166979			13239	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 64"", ""chromosome 21 open reading frame 63"", ""family with sequence similarity 176, member C"""	C21orf64, C21orf63, FAM176C		11707072, 19470522	Standard	NM_058187		Approved	B18, PRED34, B19	uc002ypr.1	P58658	OTTHUMG00000064922	ENST00000300255.2:c.871G>C	21.37:g.33876247G>C	ENSP00000300255:p.Asp291His					C21orf63_uc002yps.1_RNA|C21orf63_uc010glw.1_Missense_Mutation_p.D288H|C21orf63_uc002ypt.1_RNA|C21orf63_uc002ypu.1_Missense_Mutation_p.D196H|C21orf63_uc011adq.1_5'UTR	p.D291H	NM_058187	NP_478067	P58658	CU063_HUMAN			7	1281	+			291			Extracellular (Potential).		A6ND58|Q8IXZ0	Missense_Mutation	SNP	ENST00000300255.2	37	c.871G>C	CCDS13614.1	.	.	.	.	.	.	.	.	.	.	G	4.575	0.106835	0.08780	.	.	ENSG00000166979	ENST00000300255;ENST00000401402;ENST00000382699	T;T;T	0.08807	3.07;3.05;3.09	4.73	1.51	0.23008	.	0.696678	0.14172	N	0.336606	T	0.09512	0.0234	M	0.63428	1.95	0.25110	N	0.990725	B;B	0.10296	0.001;0.003	B;B	0.09377	0.004;0.004	T	0.23691	-1.0181	10	0.52906	T	0.07	-13.8081	6.3768	0.21511	0.1893:0.1441:0.6666:0.0	.	288;291	A6ND58;P58658	.;CU063_HUMAN	H	291;243;288	ENSP00000300255:D291H;ENSP00000384594:D243H;ENSP00000372146:D288H	ENSP00000300255:D291H	D	+	1	0	C21orf63	32798118	0.873000	0.30073	0.143000	0.22291	0.158000	0.22134	1.146000	0.31589	-0.010000	0.14271	-0.391000	0.06502	GAC		0.443	EVA1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139403.1		NM_058187		37	112	0	0	0	1	0	37	112		
ITSN1	6453	broad.mit.edu	37	21	35147080	35147080	+	Silent	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr21:35147080G>T	ENST00000381318.3	+	13	1641	c.1353G>T	c.(1351-1353)cgG>cgT	p.R451R	ITSN1_ENST00000437442.2_Silent_p.R451R|ITSN1_ENST00000399355.2_Silent_p.R451R|ITSN1_ENST00000399326.3_Silent_p.R451R|ITSN1_ENST00000381291.4_Silent_p.R451R|ITSN1_ENST00000399349.1_Silent_p.R451R|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399352.1_Silent_p.R451R|ITSN1_ENST00000399338.4_Silent_p.R451R|ITSN1_ENST00000399367.3_Silent_p.R451R|ITSN1_ENST00000381285.4_Silent_p.R451R|ITSN1_ENST00000399353.1_Silent_p.R414R|ITSN1_ENST00000379960.5_Silent_p.R451R	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	451	KLERQ.				apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						AGTGGGAACGGAATCGAAGGC	0.368																																						uc002yta.1		NaN																	0				ovary(3)|skin(1)	4						c.(1351-1353)CGG>CGT		intersectin 1 isoform ITSN-l							78.0	78.0	78.0					21																	35147080		2203	4300	6503	SO:0001819	synonymous_variant	6453				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity	g.chr21:35147080G>T	AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	6183	protein-coding gene	gene with protein product	"""SH3 domain protein-1A"", ""human intersectin-SH3 domain-containing protein SH3P17"", ""Src homology 3 domain-containing protein"", ""intersectin 1 short form variant, 11"", ""intersectin 1 short form variant 3"", ""intersectin short variant 12"""	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.1353G>T	21.37:g.35147080G>T						DONSON_uc002ysn.1_Intron|ITSN1_uc002yth.3_RNA|ITSN1_uc002ysz.2_Silent_p.R451R|ITSN1_uc010gmg.2_Silent_p.R414R|ITSN1_uc010gmh.2_RNA|ITSN1_uc002ysw.2_Silent_p.R451R|ITSN1_uc010gmi.2_Silent_p.R414R|ITSN1_uc010gmj.2_Silent_p.R335R|ITSN1_uc002ysy.2_Silent_p.R451R|ITSN1_uc002ysx.2_Silent_p.R414R|ITSN1_uc002ytb.1_Silent_p.R451R|ITSN1_uc002ytc.1_Silent_p.R451R|ITSN1_uc002ytd.2_RNA|ITSN1_uc010gmk.2_Silent_p.R414R|ITSN1_uc010gml.2_RNA|ITSN1_uc002ytj.2_Silent_p.R451R|ITSN1_uc010gmm.1_RNA|ITSN1_uc002yte.2_Silent_p.R385R	p.R451R	NM_003024	NP_003015	Q15811	ITSN1_HUMAN			13	1621	+			451			Potential.|KLERQ.		A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Silent	SNP	ENST00000381318.3	37	c.1353G>T	CCDS33545.1																																																																																				0.368	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4		NM_003024		17	43	1	0	1.5739e-10	1	1.68845e-10	17	43		
RIPK4	54101	broad.mit.edu	37	21	43187192	43187192	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr21:43187192C>G	ENST00000352483.2	-	1	74	c.10G>C	c.(10-12)Gac>Cac	p.D4H	RIPK4_ENST00000544709.1_5'Flank|RIPK4_ENST00000332512.3_Missense_Mutation_p.D4H|RIPK4_ENST00000542057.1_5'Flank			P57078	RIPK4_HUMAN	receptor-interacting serine-threonine kinase 4	4					morphogenesis of an epithelium (GO:0002009)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GTCCCGCCGTCGCCCTCCATC	0.736																																						uc002yzn.1		NaN																	0				ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)	7						c.(10-12)GAC>CAC		ankyrin repeat domain 3							11.0	11.0	11.0					21																	43187192		2148	4221	6369	SO:0001583	missense	54101					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	g.chr21:43187192C>G	AJ278016	CCDS13675.1	21q22.3	2013-01-10	2004-07-06	2004-07-06	ENSG00000183421	ENSG00000183421		"""Ankyrin repeat domain containing"""	496	protein-coding gene	gene with protein product	"""protein kinase C-associated kinase"", ""PKC-delta-interacting protein kinase"""	605706	"""ankyrin repeat domain 3"""	ANKRD3		10830953	Standard	NM_020639		Approved	DIK, ANKK2, RIP4, PKK	uc002yzn.1	P57078	OTTHUMG00000086770	ENST00000352483.2:c.10G>C	21.37:g.43187192C>G	ENSP00000330161:p.Asp4His						p.D4H	NM_020639	NP_065690	P57078	RIPK4_HUMAN			1	58	-			4					Q96KH0	Missense_Mutation	SNP	ENST00000352483.2	37	c.10G>C		.	.	.	.	.	.	.	.	.	.	C	16.21	3.057974	0.55325	.	.	ENSG00000183421	ENST00000332512;ENST00000352483	T;T	0.54866	0.55;0.55	3.68	2.78	0.32641	.	1.102600	0.07150	U	0.848911	T	0.41236	0.1150	N	0.14661	0.345	0.20926	N	0.999827	P	0.40794	0.729	B	0.42851	0.4	T	0.38001	-0.9681	10	0.62326	D	0.03	-11.0699	9.4861	0.38931	0.0:0.8932:0.0:0.1068	.	4	P57078-2	.	H	4	ENSP00000332454:D4H;ENSP00000330161:D4H	ENSP00000332454:D4H	D	-	1	0	RIPK4	42060261	0.768000	0.28519	0.912000	0.35992	0.886000	0.51366	1.322000	0.33689	1.607000	0.50170	0.460000	0.39030	GAC		0.736	RIPK4-201	KNOWN	basic	protein_coding	protein_coding			NM_020639		3	6	0	0	0	1	0	3	6		
UBASH3A	53347	broad.mit.edu	37	21	43833142	43833142	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr21:43833142C>G	ENST00000319294.6	+	4	395	c.364C>G	c.(364-366)Cag>Gag	p.Q122E	UBASH3A_ENST00000398367.1_Missense_Mutation_p.Q122E|UBASH3A_ENST00000291535.6_Missense_Mutation_p.Q122E	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	122					negative regulation of T cell receptor signaling pathway (GO:0050860)|regulation of cytokine production (GO:0001817)	cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						GTGTGAAGACCAGAAGGTGGA	0.512																																						uc002zbe.2		NaN																	0				ovary(3)	3						c.(364-366)CAG>GAG		ubiquitin associated and SH3 domain containing,							130.0	133.0	132.0					21																	43833142		2203	4300	6503	SO:0001583	missense	53347					cytosol|nucleus		g.chr21:43833142C>G	AJ277750	CCDS13687.1, CCDS33566.1, CCDS58791.1	21q22.3	2010-04-28	2010-04-28		ENSG00000160185	ENSG00000160185			12462	protein-coding gene	gene with protein product		605736				11281453	Standard	NM_018961		Approved	STS-2, TULA, CLIP4	uc002zbf.3	P57075	OTTHUMG00000086805	ENST00000319294.6:c.364C>G	21.37:g.43833142C>G	ENSP00000317327:p.Gln122Glu					UBASH3A_uc002zbf.2_Missense_Mutation_p.Q122E|UBASH3A_uc010gpc.2_RNA|UBASH3A_uc010gpd.2_RNA|UBASH3A_uc010gpe.2_Missense_Mutation_p.Q122E	p.Q122E	NM_018961	NP_061834	P57075	UBS3A_HUMAN			4	400	+			122					G5E9E4|Q6HA34|Q6HA35|Q6ISI6|Q6ISK3|Q6ISS9	Missense_Mutation	SNP	ENST00000319294.6	37	c.364C>G	CCDS13687.1	.	.	.	.	.	.	.	.	.	.	C	0.136	-1.108298	0.01813	.	.	ENSG00000160185	ENST00000291535;ENST00000319294;ENST00000398367	T;T;T	0.40476	1.18;1.03;1.18	5.22	5.22	0.72569	.	0.221331	0.32258	N	0.006341	T	0.33265	0.0857	L	0.35723	1.085	0.80722	D	1	P;P;P	0.39116	0.493;0.66;0.53	B;B;B	0.40702	0.237;0.338;0.141	T	0.06215	-1.0839	10	0.07813	T	0.8	-20.8277	13.7262	0.62759	0.1539:0.8461:0.0:0.0	.	122;122;122	G5E9E4;P57075-2;P57075	.;.;UBS3A_HUMAN	E	122	ENSP00000291535:Q122E;ENSP00000317327:Q122E;ENSP00000381408:Q122E	ENSP00000291535:Q122E	Q	+	1	0	UBASH3A	42706211	0.993000	0.37304	1.000000	0.80357	0.300000	0.27592	1.026000	0.30103	2.433000	0.82419	0.511000	0.50034	CAG		0.512	UBASH3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195382.1		NM_001001895		33	141	0	0	0	1	0	33	141		
RRP1	8568	broad.mit.edu	37	21	45222172	45222172	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr21:45222172G>C	ENST00000497547.1	+	12	1144	c.1027G>C	c.(1027-1029)Gag>Cag	p.E343Q	RRP1_ENST00000471909.1_3'UTR	NM_003683.5	NP_003674.1	P05386	RLA1_HUMAN	ribosomal RNA processing 1	0					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|kidney(1)|lung(4)|stomach(2)	8				COAD - Colon adenocarcinoma(84;0.00753)|Colorectal(79;0.0157)|STAD - Stomach adenocarcinoma(101;0.171)		CCCTGAAGATGAGATCCCAGA	0.602																																						uc002zds.2		NaN																	0					0						c.(1027-1029)GAG>CAG		ribosomal RNA processing 1 homolog							67.0	75.0	72.0					21																	45222172		1895	4110	6005	SO:0001583	missense	8568				rRNA processing	nucleolus|preribosome, small subunit precursor		g.chr21:45222172G>C	U79775	CCDS42951.1	21q22.3	2013-07-02	2013-07-02		ENSG00000160214	ENSG00000160214			18785	protein-coding gene	gene with protein product	"""DNA segment on chromosome 21 (unique) 2056 expressed sequence"", ""Nnp1 homolog, nucleolar protein (Drosophila)"""	610653	"""ribosomal RNA processing 1 homolog (S. cerevisiae)"""			10830953, 10341208	Standard	NM_003683		Approved	NNP-1, Nop52, NOP52, RRP1A, D21S2056E	uc002zds.2	P56182	OTTHUMG00000086884	ENST00000497547.1:c.1027G>C	21.37:g.45222172G>C	ENSP00000417464:p.Glu343Gln					RRP1_uc011aez.1_Missense_Mutation_p.E343Q|RRP1_uc010gpk.1_Missense_Mutation_p.E193Q|RRP1_uc010gpl.1_Missense_Mutation_p.E241Q|RRP1_uc010gpm.1_Missense_Mutation_p.E210Q	p.E343Q	NM_003683	NP_003674	P56182	RRP1_HUMAN		COAD - Colon adenocarcinoma(84;0.00753)|Colorectal(79;0.0157)|STAD - Stomach adenocarcinoma(101;0.171)	12	1120	+			343					A6NIB2	Missense_Mutation	SNP	ENST00000497547.1	37	c.1027G>C	CCDS42951.1	.	.	.	.	.	.	.	.	.	.	G	12.99	2.104217	0.37145	.	.	ENSG00000160214	ENST00000497547;ENST00000400387	T	0.23754	1.89	3.23	3.23	0.37069	.	0.738049	0.13465	N	0.385836	T	0.27454	0.0674	L	0.43152	1.355	0.09310	N	1	P;D;P	0.53885	0.791;0.963;0.808	B;P;B	0.47044	0.196;0.535;0.382	T	0.08911	-1.0699	10	0.87932	D	0	.	10.2595	0.43419	0.0:0.0:1.0:0.0	.	343;210;343	B4DZM3;Q96J73;P56182	.;.;RRP1_HUMAN	Q	343	ENSP00000417464:E343Q	ENSP00000383237:E343Q	E	+	1	0	RRP1	44046600	0.813000	0.29090	0.026000	0.17262	0.010000	0.07245	3.523000	0.53488	2.134000	0.65973	0.561000	0.74099	GAG		0.602	RRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195680.1		NM_003683		23	27	0	0	0	1	0	23	27		
TRAPPC10	7109	broad.mit.edu	37	21	45475622	45475622	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr21:45475622C>G	ENST00000291574.4	+	5	701	c.526C>G	c.(526-528)Cag>Gag	p.Q176E	TRAPPC10_ENST00000380221.3_Missense_Mutation_p.Q176E	NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	176					sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sodium ion transmembrane transporter activity (GO:0015081)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						TTCTCGAACTCAGGAATCCTG	0.478																																						uc002zea.2		NaN																	0				ovary(1)|skin(1)	2						c.(526-528)CAG>GAG		trafficking protein particle complex 10							194.0	179.0	184.0					21																	45475622		2203	4300	6503	SO:0001583	missense	7109				vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity	g.chr21:45475622C>G	U19252	CCDS13704.1	21q22.3	2008-05-07	2008-05-07	2008-05-07	ENSG00000160218	ENSG00000160218		"""Trafficking protein particle complex"""	11868	protein-coding gene	gene with protein product	"""trafficking protein particle complex subunit 130"", ""TRAPP 130 kDa subunit"""	602103	"""transmembrane protein 1"""	TMEM1		7633421	Standard	NM_003274		Approved	EHOC-1, TRS130	uc002zea.3	P48553	OTTHUMG00000086894	ENST00000291574.4:c.526C>G	21.37:g.45475622C>G	ENSP00000291574:p.Gln176Glu					TRAPPC10_uc010gpo.2_5'UTR|TRAPPC10_uc002zdz.2_Missense_Mutation_p.Q176E	p.Q176E	NM_003274	NP_003265	P48553	TPC10_HUMAN			5	695	+			176					Q3MIR2|Q86SI7|Q9UMD4|Q9Y4L3	Missense_Mutation	SNP	ENST00000291574.4	37	c.526C>G	CCDS13704.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.653261	0.88056	.	.	ENSG00000160218	ENST00000380221;ENST00000291574	T;T	0.31510	1.49;1.49	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.46268	0.1384	L	0.57536	1.79	0.80722	D	1	D;B	0.60575	0.988;0.073	P;B	0.53722	0.733;0.107	T	0.27706	-1.0066	10	0.41790	T	0.15	.	19.4914	0.95050	0.0:1.0:0.0:0.0	.	176;176	P48553;Q86SI7	TPC10_HUMAN;.	E	176	ENSP00000369570:Q176E;ENSP00000291574:Q176E	ENSP00000291574:Q176E	Q	+	1	0	TRAPPC10	44300050	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.492000	0.81482	2.592000	0.87571	0.655000	0.94253	CAG		0.478	TRAPPC10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000195737.1		NM_003274		91	101	0	0	0	1	0	91	101		
GAB4	128954	broad.mit.edu	37	22	17468986	17468986	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr22:17468986G>A	ENST00000400588.1	-	3	657	c.550C>T	c.(550-552)Cag>Tag	p.Q184*	GAB4_ENST00000523144.1_Intron	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	184										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				GGGAGGTGCTGATGGGAGCAG	0.612																																						uc002zlw.2		NaN																	0				large_intestine(1)|ovary(1)	2						c.(550-552)CAG>TAG		GRB2-associated binding protein family, member							47.0	60.0	56.0					22																	17468986		2119	4262	6381	SO:0001587	stop_gained	128954							g.chr22:17468986G>A	AK057252	CCDS42976.1	22q11.2	2013-01-10			ENSG00000215568	ENSG00000215568		"""Pleckstrin homology (PH) domain containing"""	18325	protein-coding gene	gene with protein product							Standard	NM_001037814		Approved		uc002zlw.3	Q2WGN9	OTTHUMG00000149992	ENST00000400588.1:c.550C>T	22.37:g.17468986G>A	ENSP00000383431:p.Gln184*					GAB4_uc010gqs.1_Nonsense_Mutation_p.Q167*	p.Q184*	NM_001037814	NP_001032903	Q2WGN9	GAB4_HUMAN			3	658	-		all_epithelial(15;0.112)|Lung NSC(13;0.248)	184						Nonsense_Mutation	SNP	ENST00000400588.1	37	c.550C>T	CCDS42976.1	.	.	.	.	.	.	.	.	.	.	G	10.64	1.407805	0.25378	.	.	ENSG00000215568	ENST00000400588	.	.	.	1.9	1.9	0.25705	.	0.391952	0.23756	N	0.044863	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	.	7.3004	0.26418	0.0:0.0:1.0:0.0	.	.	.	.	X	184	.	ENSP00000383431:Q184X	Q	-	1	0	GAB4	15848986	0.989000	0.36119	0.984000	0.44739	0.071000	0.16799	3.310000	0.51911	1.360000	0.45960	0.313000	0.20887	CAG		0.612	GAB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315426.1		XM_372882		21	19	0	0	0	1	0	21	19		
PRODH	5625	broad.mit.edu	37	22	18918658	18918658	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr22:18918658C>A	ENST00000357068.6	-	2	592	c.327G>T	c.(325-327)atG>atT	p.M109I	PRODH_ENST00000420436.1_Start_Codon_SNP_p.M1I|PRODH_ENST00000334029.2_Start_Codon_SNP_p.M1I	NM_016335.4	NP_057419	O43272	PROD_HUMAN	proline dehydrogenase (oxidase) 1	109					4-hydroxyproline catabolic process (GO:0019470)|cellular nitrogen compound metabolic process (GO:0034641)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|proline catabolic process (GO:0006562)|proline catabolic process to glutamate (GO:0010133)|proline metabolic process (GO:0006560)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)	FAD binding (GO:0071949)|proline dehydrogenase activity (GO:0004657)			breast(1)|endometrium(3)|lung(4)|upper_aerodigestive_tract(1)	9					L-Proline(DB00172)	AGGTCATCTTCATGAGCTTGT	0.557																																						uc010grl.2		NaN																	0				breast(1)	1						c.(325-327)ATG>ATT		proline dehydrogenase 1	L-Proline(DB00172)						63.0	58.0	60.0					22																	18918658		2203	4300	6503	SO:0001583	missense	5625				glutamate biosynthetic process|induction of apoptosis by oxidative stress|proline catabolic process	mitochondrial inner membrane|mitochondrial matrix	proline dehydrogenase activity	g.chr22:18918658C>A	AF010310	CCDS13754.1, CCDS56223.1	22q11.2	2014-07-10	2001-12-05		ENSG00000100033	ENSG00000100033	1.5.5.2		9453	protein-coding gene	gene with protein product		606810	"""proline dehydrogenase (proline oxidase )"""			9385373, 10192398	Standard	NM_001195226		Approved	HSPOX2, PRODH1, PIG6, PRODH2, TP53I6	uc002zok.4	O43272	OTTHUMG00000150163	ENST00000357068.6:c.327G>T	22.37:g.18918658C>A	ENSP00000349577:p.Met109Ile					PRODH_uc002zoj.3_5'UTR|PRODH_uc002zol.3_5'UTR|PRODH_uc002zok.3_Missense_Mutation_p.M109I	p.M109I	NM_016335	NP_057419	O43272	PROD_HUMAN			2	341	-			109					A6NF53|O14680|Q0P507|Q147W8|Q504W1|Q59FI8|Q6NV86|Q9UF13	Missense_Mutation	SNP	ENST00000357068.6	37	c.327G>T	CCDS13754.1	.	.	.	.	.	.	.	.	.	.	.	21.2	4.121014	0.77436	.	.	ENSG00000100033	ENST00000357068	T	0.19105	2.17	4.16	4.16	0.48862	.	0.000000	0.85682	D	0.000000	T	0.33962	0.0881	L	0.57536	1.79	0.58432	D	0.999999	D;P	0.55800	0.973;0.524	P;B	0.53593	0.73;0.116	T	0.12708	-1.0537	10	0.66056	D	0.02	-40.7343	14.3995	0.67034	0.0:1.0:0.0:0.0	.	25;109	O43272-1;O43272	.;PROD_HUMAN	I	109	ENSP00000349577:M109I	ENSP00000334726:M1I	M	-	3	0	PRODH	17298658	1.000000	0.71417	0.992000	0.48379	0.825000	0.46686	6.888000	0.75622	2.340000	0.79590	0.549000	0.68633	ATG		0.557	PRODH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316637.2		NM_016335		17	37	1	0	5.3912e-06	1	5.58905e-06	17	37		
CCDC157	550631	broad.mit.edu	37	22	30766456	30766456	+	Missense_Mutation	SNP	G	G	C	rs5753102		TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr22:30766456G>C	ENST00000405659.1	+	5	1271	c.562G>C	c.(562-564)Gag>Cag	p.E188Q	CCDC157_ENST00000338306.3_Missense_Mutation_p.E188Q			Q569K6	CC157_HUMAN	coiled-coil domain containing 157	188										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1)	15						CCAAGAGCCAGAGAGCATCCC	0.602																																						uc011aku.1		NaN																	0				central_nervous_system(1)	1						c.(562-564)GAG>CAG		coiled-coil domain containing 157							117.0	111.0	113.0					22																	30766456		2203	4300	6503	SO:0001583	missense	550631							g.chr22:30766456G>C	BC018040	CCDS33632.2	22q12.2	2009-03-05			ENSG00000187860	ENSG00000187860			33854	protein-coding gene	gene with protein product							Standard	NM_001017437		Approved		uc011aku.2	Q569K6	OTTHUMG00000151007	ENST00000405659.1:c.562G>C	22.37:g.30766456G>C	ENSP00000385357:p.Glu188Gln					CCDC157_uc011akv.1_Missense_Mutation_p.E188Q	p.E188Q	NM_001017437	NP_001017437	Q569K6	CC157_HUMAN			5	1222	+			188					Q0VD76|Q9BYA4	Missense_Mutation	SNP	ENST00000405659.1	37	c.562G>C	CCDS33632.2	.	.	.	.	.	.	.	.	.	.	G	9.465	1.094077	0.20471	.	.	ENSG00000187860	ENST00000405659;ENST00000338306;ENST00000445005;ENST00000430839	T;T;T;T	0.30182	2.01;2.01;1.54;1.54	5.08	2.98	0.34508	.	0.782790	0.11901	N	0.518587	T	0.10937	0.0267	N	0.02011	-0.69	0.09310	N	0.999995	B	0.13594	0.008	B	0.06405	0.002	T	0.32955	-0.9887	10	0.11794	T	0.64	-9.779	8.563	0.33523	0.0954:0.4904:0.4142:0.0	rs5753102;rs5753102	188	Q569K6	CC157_HUMAN	Q	188	ENSP00000385357:E188Q;ENSP00000343087:E188Q;ENSP00000387491:E188Q;ENSP00000401837:E188Q	ENSP00000343087:E188Q	E	+	1	0	CCDC157	29096456	0.009000	0.17119	0.066000	0.19879	0.224000	0.24922	1.775000	0.38584	0.714000	0.32081	0.563000	0.77884	GAG		0.602	CCDC157-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320936.1		NM_001017437		35	33	0	0	0	1	0	35	33		
INPP5J	27124	broad.mit.edu	37	22	31522449	31522449	+	Missense_Mutation	SNP	C	C	A	rs561823855		TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr22:31522449C>A	ENST00000331075.5	+	3	1408	c.1359C>A	c.(1357-1359)agC>agA	p.S453R	INPP5J_ENST00000412277.2_Missense_Mutation_p.S386R|INPP5J_ENST00000405300.1_Missense_Mutation_p.S86R|INPP5J_ENST00000402238.1_5'Flank|INPP5J_ENST00000401755.1_5'Flank|INPP5J_ENST00000400294.2_Missense_Mutation_p.S86R|INPP5J_ENST00000404390.3_Missense_Mutation_p.S85R|INPP5J_ENST00000404453.1_5'Flank	NM_001284285.1	NP_001271214.1	Q15735	PI5PA_HUMAN	inositol polyphosphate-5-phosphatase J	453	Catalytic. {ECO:0000255}.				inositol phosphate metabolic process (GO:0043647)|negative regulation of microtubule polymerization (GO:0031115)|negative regulation of neuron projection development (GO:0010977)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity (GO:0052659)|inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity (GO:0034485)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						GTGACGACAGCGACGGCGCAG	0.672																																						uc003aju.3		NaN																	0				skin(1)	1						c.(1357-1359)AGC>AGA		phosphatidylinositol (4,5) bisphosphate							130.0	138.0	135.0					22																	31522449		2166	4247	6413	SO:0001583	missense	27124					cytoplasm|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|SH3 domain binding	g.chr22:31522449C>A	U45975	CCDS46687.1, CCDS63453.1, CCDS63454.1, CCDS63455.1, CCDS74847.1	22q12.2	2008-09-09	2008-09-09	2008-09-09	ENSG00000185133	ENSG00000185133			8956	protein-coding gene	gene with protein product		606481	"""phosphatidylinositol (4,5) bisphosphate 5-phosphatase, A"""	PIB5PA		10591208	Standard	NM_001284287		Approved	INPP5	uc003aju.4	Q15735	OTTHUMG00000151206	ENST00000331075.5:c.1359C>A	22.37:g.31522449C>A	ENSP00000333262:p.Ser453Arg					INPP5J_uc010gwf.2_Missense_Mutation_p.S453R|INPP5J_uc003ajv.3_Missense_Mutation_p.S86R|INPP5J_uc003ajs.3_Missense_Mutation_p.S86R|INPP5J_uc011alk.1_Missense_Mutation_p.S386R|INPP5J_uc010gwg.2_Missense_Mutation_p.S18R|INPP5J_uc003ajw.2_5'UTR|INPP5J_uc003ajt.3_Missense_Mutation_p.S85R|INPP5J_uc003ajx.2_5'Flank|INPP5J_uc003ajy.2_5'Flank|INPP5J_uc003ajz.2_5'Flank	p.S453R	NM_001002837	NP_001002837	Q15735	PI5PA_HUMAN			3	1451	+			453			Catalytic (Potential).		B3KS54|Q32M61|Q6ZTH6|Q8N902|Q9UDT9	Missense_Mutation	SNP	ENST00000331075.5	37	c.1359C>A		.	.	.	.	.	.	.	.	.	.	C	10.60	1.395416	0.25205	.	.	ENSG00000185133	ENST00000331075;ENST00000412277;ENST00000420017;ENST00000400294;ENST00000405300;ENST00000404390	D;D;D;D;D	0.95342	-3.68;-3.68;-3.68;-3.68;-3.68	4.8	-2.41	0.06562	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.325453	0.34411	N	0.003990	D	0.88869	0.6554	L	0.35723	1.085	0.09310	N	0.999992	P;P	0.49559	0.846;0.925	B;B	0.42593	0.392;0.329	D	0.83855	0.0265	10	0.54805	T	0.06	.	9.7073	0.40222	0.1123:0.6218:0.0:0.2659	.	453;85	Q15735;Q15735-3	PI5PA_HUMAN;.	R	453;386;18;86;86;85	ENSP00000333262:S453R;ENSP00000392924:S386R;ENSP00000383150:S86R;ENSP00000384596:S86R;ENSP00000384534:S85R	ENSP00000333262:S453R	S	+	3	2	INPP5J	29852449	0.001000	0.12720	0.095000	0.20976	0.067000	0.16453	-1.428000	0.02439	-0.573000	0.05998	-0.258000	0.10820	AGC		0.672	INPP5J-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000321784.1		NM_001002837		30	60	1	0	1.7881e-09	1	1.90818e-09	30	60		
PISD	23761	broad.mit.edu	37	22	32016599	32016599	+	Missense_Mutation	SNP	G	G	T	rs557547509		TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr22:32016599G>T	ENST00000439502.2	-	7	1168	c.945C>A	c.(943-945)ttC>ttA	p.F315L	PISD_ENST00000336566.4_Missense_Mutation_p.F314L|PISD_ENST00000397500.1_Intron|PISD_ENST00000478893.1_5'UTR|PISD_ENST00000382151.2_Missense_Mutation_p.F281L|PISD_ENST00000266095.5_Missense_Mutation_p.F281L			Q9UG56	PISD_HUMAN	phosphatidylserine decarboxylase	315					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	phosphatidylserine decarboxylase activity (GO:0004609)			central_nervous_system(3)|endometrium(2)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	12					Phosphatidylserine(DB00144)	TCAGTGAGAAGAAGCCATGTT	0.587																																						uc003alm.3		NaN																	0				central_nervous_system(2)|ovary(1)	3						c.(943-945)TTC>TTA		phosphatidylserine decarboxylase	Phosphatidylserine(DB00144)						140.0	117.0	125.0					22																	32016599		2203	4300	6503	SO:0001583	missense	23761				phospholipid biosynthetic process	mitochondrion	phosphatidylserine decarboxylase activity	g.chr22:32016599G>T		CCDS13899.1	22q12.2	2011-01-25			ENSG00000241878	ENSG00000241878	4.1.1.65		8999	protein-coding gene	gene with protein product		612770				10591208	Standard	NM_014338		Approved	dJ858B16.2, PSDC	uc003alk.2	Q9UG56	OTTHUMG00000030252	ENST00000439502.2:c.945C>A	22.37:g.32016599G>T	ENSP00000391739:p.Phe315Leu					PISD_uc003alk.2_Missense_Mutation_p.F281L|PISD_uc003all.2_Intron|PISD_uc011alr.1_Missense_Mutation_p.F280L|PISD_uc003aln.3_Intron	p.F315L	NM_014338	NP_055153	Q9UG56	PISD_HUMAN			7	952	-			315					B1AKM7|O43207|O95535|Q6IC28|Q96GQ2|Q9UGA9	Missense_Mutation	SNP	ENST00000439502.2	37	c.945C>A		.	.	.	.	.	.	.	.	.	.	G	22.7	4.325642	0.81580	.	.	ENSG00000241878	ENST00000382151;ENST00000266095;ENST00000439502;ENST00000336566;ENST00000451635	.	.	.	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.69860	0.3158	M	0.64630	1.985	0.80722	D	1	P;B	0.41214	0.742;0.034	P;B	0.50617	0.646;0.259	T	0.69610	-0.5099	9	0.46703	T	0.11	-34.4831	13.9215	0.63935	0.0753:0.0:0.9247:0.0	.	315;281	Q9UG56;Q9UG56-2	PISD_HUMAN;.	L	281;281;315;314;281	.	ENSP00000266095:F281L	F	-	3	2	PISD	30346599	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	3.112000	0.50368	2.645000	0.89757	0.467000	0.42956	TTC		0.587	PISD-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000075106.4				13	24	1	0	3.03607e-14	1	3.32009e-14	13	24		
EFCAB6	64800	broad.mit.edu	37	22	43985982	43985982	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr22:43985982C>T	ENST00000262726.7	-	24	3257	c.3004G>A	c.(3004-3006)Gaa>Aaa	p.E1002K	EFCAB6_ENST00000396231.2_Missense_Mutation_p.E850K	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	1002					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				AGCTCCCCTTCGGTAAGAGAA	0.408																																						uc003bdy.1		NaN																	0				ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	7						c.(3004-3006)GAA>AAA		CAP-binding protein complex interacting protein							250.0	219.0	230.0					22																	43985982		2203	4300	6503	SO:0001583	missense	64800				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	g.chr22:43985982C>T	Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"""EF-hand domain containing"""	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.3004G>A	22.37:g.43985982C>T	ENSP00000262726:p.Glu1002Lys					EFCAB6_uc003bdz.1_Missense_Mutation_p.E850K|EFCAB6_uc010gzi.1_Missense_Mutation_p.E850K|EFCAB6_uc010gzj.1_Missense_Mutation_p.E228K	p.E1002K	NM_022785	NP_073622	Q5THR3	EFCB6_HUMAN			24	3219	-		Ovarian(80;0.0247)|all_neural(38;0.025)	1002					A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Missense_Mutation	SNP	ENST00000262726.7	37	c.3004G>A	CCDS14049.1	.	.	.	.	.	.	.	.	.	.	C	13.55	2.271387	0.40194	.	.	ENSG00000186976	ENST00000396231;ENST00000262726	D;D	0.83335	-1.71;-1.71	4.73	3.7	0.42460	EF-hand-like domain (1);	0.249758	0.31577	N	0.007417	T	0.80166	0.4573	L	0.59436	1.845	0.09310	N	0.999999	D;P	0.61697	0.99;0.945	P;P	0.51170	0.661;0.536	T	0.69300	-0.5181	10	0.22109	T	0.4	-16.3336	4.7128	0.12880	0.1539:0.6109:0.1494:0.0857	.	850;1002	Q5THR3-2;Q5THR3	.;EFCB6_HUMAN	K	850;1002	ENSP00000379533:E850K;ENSP00000262726:E1002K	ENSP00000262726:E1002K	E	-	1	0	EFCAB6	42317315	0.031000	0.19500	0.053000	0.19242	0.027000	0.11550	0.602000	0.24134	2.346000	0.79739	0.555000	0.69702	GAA		0.408	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1		NM_022785		31	43	0	0	0	1	0	31	43		
LRRN1	57633	broad.mit.edu	37	3	3887605	3887605	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:3887605C>G	ENST00000319331.3	+	2	2041	c.1280C>G	c.(1279-1281)tCt>tGt	p.S427C	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	427	Ig-like C2-type.					integral component of membrane (GO:0016021)				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		CCAATGATATCTCACGACAGC	0.502																																						uc003bpt.3		NaN																	0				central_nervous_system(1)	1						c.(1279-1281)TCT>TGT		leucine rich repeat neuronal 1 precursor							99.0	100.0	100.0					3																	3887605		2203	4300	6503	SO:0001583	missense	57633					integral to membrane		g.chr3:3887605C>G	AB040930	CCDS33685.1	3p26.2	2013-01-11			ENSG00000175928	ENSG00000175928		"""Immunoglobulin superfamily / I-set domain containing"""	20980	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 3"""					10819331	Standard	NM_020873		Approved	FIGLER3	uc003bpt.4	Q6UXK5	OTTHUMG00000154934	ENST00000319331.3:c.1280C>G	3.37:g.3887605C>G	ENSP00000314901:p.Ser427Cys					SUMF1_uc003bps.1_Intron	p.S427C	NM_020873	NP_065924	Q6UXK5	LRRN1_HUMAN		Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)	2	2041	+			427			Ig-like C2-type.|Extracellular (Potential).		Q3LID5|Q8IYV5|Q9H8V1|Q9P231	Missense_Mutation	SNP	ENST00000319331.3	37	c.1280C>G	CCDS33685.1	.	.	.	.	.	.	.	.	.	.	C	19.31	3.802898	0.70682	.	.	ENSG00000175928	ENST00000319331	T	0.59502	0.26	5.65	5.65	0.86999	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.158140	0.64402	D	0.000019	T	0.67795	0.2931	L	0.46157	1.445	0.58432	D	0.999997	P	0.48294	0.908	P	0.55785	0.784	T	0.67268	-0.5713	10	0.54805	T	0.06	.	19.7243	0.96157	0.0:1.0:0.0:0.0	.	427	Q6UXK5	LRRN1_HUMAN	C	427	ENSP00000314901:S427C	ENSP00000314901:S427C	S	+	2	0	LRRN1	3862605	0.987000	0.35691	0.026000	0.17262	0.970000	0.65996	7.755000	0.85180	2.665000	0.90641	0.650000	0.86243	TCT		0.502	LRRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337704.2		NM_020873		53	66	0	0	0	1	0	53	66		
SUMF1	285362	broad.mit.edu	37	3	4508701	4508701	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:4508701G>C	ENST00000272902.5	-	1	264	c.229C>G	c.(229-231)Ccg>Gcg	p.P77A	SUMF1_ENST00000405420.2_Missense_Mutation_p.P77A|SUMF1_ENST00000458465.2_Missense_Mutation_p.P77A|SUMF1_ENST00000383843.5_Missense_Mutation_p.P77A|SUMF1_ENST00000534863.1_Missense_Mutation_p.P77A	NM_182760.3	NP_877437.2	Q8NBK3	SUMF1_HUMAN	sulfatase modifying factor 1	77					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)	metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(3)	13		Melanoma(143;0.068)|Colorectal(144;0.233)		Epithelial(13;0.0147)|OV - Ovarian serous cystadenocarcinoma(96;0.0444)|all cancers(10;0.0549)		ACGGGGCCCGGAGCGTTAGCC	0.706																																						uc003bpz.1		NaN																	0				upper_aerodigestive_tract(1)	1						c.(229-231)CCG>GCG		sulfatase modifying factor 1 isoform 1							5.0	6.0	5.0					3																	4508701		1736	3780	5516	SO:0001583	missense	285362					endoplasmic reticulum lumen	metal ion binding|oxidoreductase activity	g.chr3:4508701G>C	BC017005	CCDS2564.1, CCDS54548.1, CCDS54549.1	3p26.1	2009-07-23			ENSG00000144455	ENSG00000144455			20376	protein-coding gene	gene with protein product		607939				12757705, 12757706	Standard	NM_182760		Approved	FGE, UNQ3037	uc003bpz.2	Q8NBK3	OTTHUMG00000090269	ENST00000272902.5:c.229C>G	3.37:g.4508701G>C	ENSP00000272902:p.Pro77Ala					SUMF1_uc003bps.1_RNA|SUMF1_uc011ass.1_Missense_Mutation_p.P77A|SUMF1_uc010hby.1_Missense_Mutation_p.P77A|SUMF1_uc011ast.1_Missense_Mutation_p.P77A	p.P77A	NM_182760	NP_877437	Q8NBK3	SUMF1_HUMAN		Epithelial(13;0.0147)|OV - Ovarian serous cystadenocarcinoma(96;0.0444)|all cancers(10;0.0549)	1	254	-		Melanoma(143;0.068)|Colorectal(144;0.233)	77					B4DXK5|B7XD05|E9PGL0|G5E9B0|Q0VAC6|Q0VAC7|Q2NL78|Q53ZE4|Q6UY39|Q96AK5|Q96DK8	Missense_Mutation	SNP	ENST00000272902.5	37	c.229C>G	CCDS2564.1	.	.	.	.	.	.	.	.	.	.	G	12.03	1.816387	0.32145	.	.	ENSG00000144455	ENST00000534982;ENST00000534863;ENST00000272902;ENST00000383843;ENST00000458465;ENST00000405420	D;D;D;D;D	0.92699	-2.64;-3.09;-3.03;-2.23;-3.08	4.51	2.53	0.30540	.	0.681690	0.14689	N	0.304299	D	0.86855	0.6033	L	0.42245	1.32	0.33447	D	0.583178	B;B;B;B	0.22683	0.073;0.002;0.0;0.001	B;B;B;B	0.20767	0.031;0.002;0.0;0.001	D	0.83805	0.0238	10	0.21014	T	0.42	-16.8752	10.4218	0.44354	0.0:0.3883:0.6117:0.0	.	77;77;77;77	E9PF05;G5E9B0;E9PGL0;Q8NBK3	.;.;.;SUMF1_HUMAN	A	77	ENSP00000440421:P77A;ENSP00000272902:P77A;ENSP00000373355:P77A;ENSP00000410060:P77A;ENSP00000384977:P77A	ENSP00000272902:P77A	P	-	1	0	SUMF1	4483701	0.958000	0.32768	0.994000	0.49952	0.795000	0.44927	1.057000	0.30492	1.209000	0.43321	0.585000	0.79938	CCG		0.706	SUMF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206591.2		NM_182760		3	9	0	0	0	1	0	3	9		
ITPR1	3708	broad.mit.edu	37	3	4842241	4842241	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:4842241C>T	ENST00000443694.2	+	51	7019	c.7019C>T	c.(7018-7020)tCa>tTa	p.S2340L	ITPR1_ENST00000357086.4_Missense_Mutation_p.S2307L|ITPR1_ENST00000302640.8_Missense_Mutation_p.S2340L|ITPR1_ENST00000354582.6_Missense_Mutation_p.S2340L|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000463980.1_3'UTR|ITPR1_ENST00000456211.2_Missense_Mutation_p.S2292L|ITPR1_ENST00000423119.2_Missense_Mutation_p.S2307L			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	2355					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	CTGATATTTTCAGTCGGGTTA	0.483																																						uc003bqa.2		NaN																	0				lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1)	21						c.(6919-6921)TCA>TTA		inositol 1,4,5-triphosphate receptor, type 1							109.0	107.0	108.0					3																	4842241		1925	4131	6056	SO:0001583	missense	3708				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding	g.chr3:4842241C>T	D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.7019C>T	3.37:g.4842241C>T	ENSP00000401671:p.Ser2340Leu					ITPR1_uc010hca.1_Missense_Mutation_p.S2292L|ITPR1_uc011asu.1_Intron|ITPR1_uc003bqc.2_Missense_Mutation_p.S1277L|ITPR1_uc010hcc.1_Missense_Mutation_p.S75L|ITPR1_uc011asv.1_Missense_Mutation_p.S31L	p.S2307L	NM_001099952	NP_001093422	Q14643	ITPR1_HUMAN		Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	51	7268	+			2355			Cytoplasmic (Potential).		E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	ENST00000443694.2	37	c.6920C>T	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	C	13.65	2.301835	0.40694	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000426160;ENST00000357086;ENST00000456211;ENST00000443694	D;D;D;D;D;D	0.91124	-2.79;-2.79;-2.79;-2.79;-2.79;-2.79	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	D	0.92577	0.7642	L	0.47716	1.5	0.80722	D	1	D;B	0.71674	0.998;0.001	D;B	0.67725	0.953;0.003	D	0.89112	0.3497	10	0.11485	T	0.65	.	18.8652	0.92289	0.0:1.0:0.0:0.0	.	2355;2307	Q14643;G5E9P1	ITPR1_HUMAN;.	L	2355;2340;2340;2307;801;2307;2292;2340	ENSP00000306253:S2340L;ENSP00000346595:S2340L;ENSP00000405934:S2307L;ENSP00000349597:S2307L;ENSP00000397885:S2292L;ENSP00000401671:S2340L	ENSP00000306253:S2340L	S	+	2	0	ITPR1	4817241	1.000000	0.71417	0.939000	0.37840	0.495000	0.33615	7.382000	0.79729	2.535000	0.85469	0.591000	0.81541	TCA		0.483	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3		NM_002222		17	61	0	0	0	1	0	17	61		
ITPR1	3708	broad.mit.edu	37	3	4856165	4856165	+	Silent	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:4856165G>T	ENST00000443694.2	+	55	7575	c.7575G>T	c.(7573-7575)ctG>ctT	p.L2525L	ITPR1_ENST00000357086.4_Silent_p.L2492L|ITPR1_ENST00000302640.8_Silent_p.L2525L|ITPR1_ENST00000354582.6_Silent_p.L2525L|ITPR1_ENST00000544951.1_Silent_p.L503L|AC018816.3_ENST00000489771.1_Intron|ITPR1_ENST00000463980.1_3'UTR|ITPR1_ENST00000456211.2_Silent_p.L2477L|AC018816.3_ENST00000441894.1_Intron|AC018816.3_ENST00000449914.1_Intron|ITPR1_ENST00000423119.2_Silent_p.L2492L			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	2540	Interaction with ERP44. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	AGACGCTGCTGATGTGCATTG	0.537																																						uc003bqa.2		NaN																	0				lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1)	21						c.(7474-7476)CTG>CTT		inositol 1,4,5-triphosphate receptor, type 1							95.0	100.0	99.0					3																	4856165		2083	4222	6305	SO:0001819	synonymous_variant	3708				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding	g.chr3:4856165G>T	D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.7575G>T	3.37:g.4856165G>T						ITPR1_uc010hca.1_Silent_p.L2477L|ITPR1_uc011asu.1_Silent_p.L503L|ITPR1_uc003bqc.2_Silent_p.L1462L|ITPR1_uc010hcc.1_Silent_p.L260L|ITPR1_uc011asv.1_Silent_p.L216L	p.L2492L	NM_001099952	NP_001093422	Q14643	ITPR1_HUMAN		Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	55	7824	+			2540			Lumenal (Potential).		E7EPX7|E9PDE9|Q14660|Q99897	Silent	SNP	ENST00000443694.2	37	c.7476G>T	CCDS54551.1																																																																																				0.537	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3		NM_002222		31	71	1	0	1.30897e-18	1	1.45808e-18	31	71		
EDEM1	9695	broad.mit.edu	37	3	5241290	5241290	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:5241290C>T	ENST00000256497.4	+	3	729	c.596C>T	c.(595-597)tCa>tTa	p.S199L	EDEM1_ENST00000445686.1_Missense_Mutation_p.S4L	NM_014674.2	NP_055489.1	Q92611	EDEM1_HUMAN	ER degradation enhancer, mannosidase alpha-like 1	199					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	calcium ion binding (GO:0005509)|misfolded protein binding (GO:0051787)			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22				Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)		ATGGGAAATTCATCCGAGTTC	0.408																																						uc003bqi.2		NaN																	0				ovary(2)|breast(1)	3						c.(595-597)TCA>TTA		ER degradation enhancer, mannosidase alpha-like							76.0	73.0	74.0					3																	5241290		2203	4300	6503	SO:0001583	missense	9695				ER-associated protein catabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	integral to endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding	g.chr3:5241290C>T	D86967	CCDS33686.1	3p26.1	2008-02-05			ENSG00000134109	ENSG00000134109			18967	protein-coding gene	gene with protein product		607673				12610306	Standard	NM_014674		Approved	KIAA0212, EDEM	uc003bqi.3	Q92611	OTTHUMG00000154896	ENST00000256497.4:c.596C>T	3.37:g.5241290C>T	ENSP00000256497:p.Ser199Leu					EDEM1_uc011asz.1_Intron|EDEM1_uc003bqh.2_Missense_Mutation_p.S199L	p.S199L	NM_014674	NP_055489	Q92611	EDEM1_HUMAN		Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)	3	728	+			199			Lumenal (Potential).		A8K9C8|B4DXP3	Missense_Mutation	SNP	ENST00000256497.4	37	c.596C>T	CCDS33686.1	.	.	.	.	.	.	.	.	.	.	C	10.41	1.343752	0.24339	.	.	ENSG00000134109	ENST00000256497;ENST00000445686	T;T	0.72282	-0.64;-0.64	4.6	4.6	0.57074	.	0.200590	0.42682	D	0.000669	T	0.49490	0.1560	N	0.04508	-0.205	0.45837	D	0.998702	B	0.21821	0.061	B	0.25759	0.063	T	0.47686	-0.9098	10	0.10902	T	0.67	-5.8541	17.8046	0.88598	0.0:1.0:0.0:0.0	.	199	Q92611	EDEM1_HUMAN	L	199;4	ENSP00000256497:S199L;ENSP00000394099:S4L	ENSP00000256497:S199L	S	+	2	0	EDEM1	5216290	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.839000	0.62810	2.261000	0.74972	0.650000	0.86243	TCA		0.408	EDEM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337566.2		NM_014674		28	28	0	0	0	1	0	28	28		
MKRN2	23609	broad.mit.edu	37	3	12611602	12611602	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:12611602G>C	ENST00000170447.7	+	3	325	c.188G>C	c.(187-189)gGa>gCa	p.G63A	MKRN2_ENST00000411987.1_Missense_Mutation_p.G20A|MKRN2_ENST00000448482.1_Missense_Mutation_p.G61A	NM_001271707.1|NM_014160.3	NP_001258636.1|NP_054879.3	Q9H000	MKRN2_HUMAN	makorin ring finger protein 2	63					protein ubiquitination (GO:0016567)	intracellular (GO:0005622)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)	16						GCTGCAGCTGGAGGTGCTGTG	0.547																																						uc003bxd.2		NaN																	0					0						c.(187-189)GGA>GCA		makorin ring finger protein 2							111.0	101.0	105.0					3																	12611602		2203	4300	6503	SO:0001583	missense	23609					intracellular	ligase activity|nucleic acid binding|zinc ion binding	g.chr3:12611602G>C		CCDS33702.1, CCDS63545.1	3p25	2008-08-13	2008-08-13		ENSG00000075975	ENSG00000075975		"""RING-type (C3HC4) zinc fingers"""	7113	protein-coding gene	gene with protein product		608426				11597136	Standard	NM_014160		Approved	RNF62, HSPC070	uc003bxd.4	Q9H000	OTTHUMG00000155371	ENST00000170447.7:c.188G>C	3.37:g.12611602G>C	ENSP00000170447:p.Gly63Ala					MKRN2_uc003bxe.2_Missense_Mutation_p.G61A|MKRN2_uc011aus.1_Missense_Mutation_p.G20A	p.G63A	NM_014160	NP_054879	Q9H000	MKRN2_HUMAN			3	244	+			63					A6NIA2|B3KRC5|B4DPR4|Q8N391|Q96BD4|Q9BUY2|Q9NRY1	Missense_Mutation	SNP	ENST00000170447.7	37	c.188G>C	CCDS33702.1	.	.	.	.	.	.	.	.	.	.	G	5.276	0.236387	0.10023	.	.	ENSG00000075975	ENST00000170447;ENST00000411987;ENST00000448482	T;T;T	0.22539	2.76;1.95;2.01	5.04	2.17	0.27698	.	0.234463	0.35677	N	0.003042	T	0.17916	0.0430	L	0.59436	1.845	0.09310	N	0.999991	B;B;B	0.13145	0.007;0.007;0.007	B;B;B	0.13407	0.004;0.009;0.009	T	0.35724	-0.9777	10	0.10902	T	0.67	.	10.0451	0.42182	0.0:0.307:0.5523:0.1407	.	20;61;63	B4DPR4;C9J494;Q9H000	.;.;MKRN2_HUMAN	A	63;20;61	ENSP00000170447:G63A;ENSP00000396340:G20A;ENSP00000397983:G61A	ENSP00000170447:G63A	G	+	2	0	MKRN2	12586602	0.998000	0.40836	0.001000	0.08648	0.075000	0.17131	2.672000	0.46850	0.142000	0.18901	0.591000	0.81541	GGA		0.547	MKRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339679.1		NM_014160		23	73	0	0	0	1	0	23	73		
TRIM71	131405	broad.mit.edu	37	3	32932040	32932040	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:32932040G>A	ENST00000383763.5	+	4	1407	c.1344G>A	c.(1342-1344)cgG>cgA	p.R448R		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase	448					fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|miRNA metabolic process (GO:0010586)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|positive regulation of gene silencing by miRNA (GO:2000637)|protein autoubiquitination (GO:0051865)|regulation of gene silencing by miRNA (GO:0060964)|regulation of neural precursor cell proliferation (GO:2000177)|stem cell proliferation (GO:0072089)	cytoplasmic mRNA processing body (GO:0000932)	ligase activity (GO:0016874)|miRNA binding (GO:0035198)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AGACCGTGCGGAGCCTCCTGC	0.617																																						uc003cff.2		NaN																	0				ovary(2)|large_intestine(1)	3						c.(1342-1344)CGG>CGA		tripartite motif-containing 71							59.0	68.0	65.0					3																	32932040		2051	4185	6236	SO:0001819	synonymous_variant	131405				multicellular organismal development	cytoplasm	zinc ion binding	g.chr3:32932040G>A		CCDS43060.1	3p22.3	2014-02-17	2012-02-29		ENSG00000206557	ENSG00000206557		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	32669	protein-coding gene	gene with protein product			"""tripartite motif-containing 71"", ""tripartite motif containing 71"""				Standard	NM_001039111		Approved	LIN41, LIN-41	uc003cff.3	Q2Q1W2	OTTHUMG00000155778	ENST00000383763.5:c.1344G>A	3.37:g.32932040G>A							p.R448R	NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN			4	1407	+			448						Silent	SNP	ENST00000383763.5	37	c.1344G>A	CCDS43060.1																																																																																				0.617	TRIM71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341565.3		NM_001039111		27	43	0	0	0	1	0	27	43		
GLB1	2720	broad.mit.edu	37	3	33109743	33109743	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:33109743G>C	ENST00000399402.3	-	4	477	c.346C>G	c.(346-348)Ctt>Gtt	p.L116V	GLB1_ENST00000307363.5_Missense_Mutation_p.L146V|GLB1_ENST00000307377.8_Intron|GLB1_ENST00000445488.2_Missense_Mutation_p.L194V	NM_001079811.1	NP_001073279	P16278	BGAL_HUMAN	galactosidase, beta 1	146					carbohydrate metabolic process (GO:0005975)|galactose catabolic process (GO:0019388)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)	beta-galactosidase activity (GO:0004565)|galactoside binding (GO:0016936)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21		Melanoma(143;0.104)				GAGCGGAGAAGAATAGACTCT	0.478																																						uc003cfi.1		NaN																	0				large_intestine(1)	1						c.(436-438)CTT>GTT		galactosidase, beta 1 isoform a preproprotein							88.0	88.0	88.0					3																	33109743		1867	4095	5962	SO:0001583	missense	2720				carbohydrate metabolic process	lysosome|perinuclear region of cytoplasm	beta-galactosidase activity|cation binding|protein binding	g.chr3:33109743G>C	M22590	CCDS43061.1, CCDS43062.1, CCDS46785.1	3p22.3	2012-10-02			ENSG00000170266	ENSG00000170266	3.2.1.23		4298	protein-coding gene	gene with protein product		611458	"""elastin receptor 1, 67kDa"", ""elastin receptor 1 (67kD)"""	ELNR1		110522, 3143362	Standard	NM_000404		Approved	EBP	uc003cfi.1	P16278	OTTHUMG00000155781	ENST00000399402.3:c.346C>G	3.37:g.33109743G>C	ENSP00000382333:p.Leu116Val					GLB1_uc003cfh.1_Missense_Mutation_p.L116V|GLB1_uc003cfj.1_Intron|GLB1_uc011axk.1_Missense_Mutation_p.L194V	p.L146V	NM_000404	NP_000395	P16278	BGAL_HUMAN			4	553	-		Melanoma(143;0.104)	146					B2R7H8|B7Z6B0|P16279	Missense_Mutation	SNP	ENST00000399402.3	37	c.436C>G	CCDS43062.1	.	.	.	.	.	.	.	.	.	.	G	0.229	-1.022628	0.02061	.	.	ENSG00000170266	ENST00000399402;ENST00000307363;ENST00000445488;ENST00000440656	D;D;D;D	0.98044	-4.68;-4.68;-4.68;-4.68	5.26	-1.88	0.07713	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.175049	0.49916	N	0.000134	T	0.82240	0.4994	N	0.00128	-2.045	0.22531	N	0.999014	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.0;0.001	T	0.82204	-0.0573	10	0.16896	T	0.51	-2.9149	6.717	0.23308	0.0:0.4991:0.1151:0.3858	.	146;146;194	Q53G40;P16278;B7Z6Q5	.;BGAL_HUMAN;.	V	116;146;194;15	ENSP00000382333:L116V;ENSP00000306920:L146V;ENSP00000393377:L194V;ENSP00000411769:L15V	ENSP00000306920:L146V	L	-	1	0	GLB1	33084747	0.143000	0.22626	0.016000	0.15963	0.174000	0.22865	0.178000	0.16820	-0.841000	0.04200	-0.467000	0.05162	CTT		0.478	GLB1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000341570.2		NM_000404		13	39	0	0	0	1	0	13	39		
CLASP2	23122	broad.mit.edu	37	3	33614798	33614798	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:33614798C>G	ENST00000468888.2	-	26	2576	c.2530G>C	c.(2530-2532)Gat>Cat	p.D844H	CLASP2_ENST00000461133.3_Missense_Mutation_p.D602H|CLASP2_ENST00000359576.5_Missense_Mutation_p.D835H|CLASP2_ENST00000480013.1_Missense_Mutation_p.D623H|CLASP2_ENST00000307312.7_Missense_Mutation_p.D324H|CLASP2_ENST00000399362.4_Missense_Mutation_p.D843H|CLASP2_ENST00000539981.1_Missense_Mutation_p.D613H			O75122	CLAP2_HUMAN	cytoplasmic linker associated protein 2	623					axon guidance (GO:0007411)|establishment or maintenance of cell polarity (GO:0007163)|fucosylation (GO:0036065)|microtubule anchoring (GO:0034453)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)|regulation of microtubule polymerization or depolymerization (GO:0031110)|regulation of microtubule-based process (GO:0032886)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)|microtubule plus-end binding (GO:0051010)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						TTGGCGTCATCATCTGAATGC	0.393																																						uc003cfu.2		NaN																	0				ovary(3)|central_nervous_system(1)	4						c.(2503-2505)GAT>CAT		CLIP-associating protein 2							200.0	182.0	188.0					3																	33614798		1949	4130	6079	SO:0001583	missense	23122							g.chr3:33614798C>G	AB014527		3p24.3	2013-01-18			ENSG00000163539	ENSG00000163539			17078	protein-coding gene	gene with protein product		605853				9734811, 10899121	Standard	NM_015097		Approved	KIAA0627	uc021wvc.1	O75122	OTTHUMG00000156489	ENST00000468888.2:c.2530G>C	3.37:g.33614798C>G	ENSP00000419974:p.Asp844His					CLASP2_uc003cfs.2_Missense_Mutation_p.D43H|CLASP2_uc003cft.2_RNA|CLASP2_uc010hgb.2_RNA|CLASP2_uc011axt.1_Missense_Mutation_p.D436H	p.D835H	NM_015097	NP_055912	B2RTR1	B2RTR1_HUMAN			25	2857	-			844					Q7L8F6|Q8N6R6|Q9BQT3|Q9BQT4|Q9H7A3|Q9NSZ2	Missense_Mutation	SNP	ENST00000468888.2	37	c.2503G>C		.	.	.	.	.	.	.	.	.	.	C	35	5.553593	0.96501	.	.	ENSG00000163539	ENST00000468888;ENST00000399362;ENST00000359576;ENST00000307312;ENST00000539981;ENST00000480013;ENST00000461133;ENST00000475576	T;T;T	0.32023	1.8;1.78;1.47	5.74	5.74	0.90152	Armadillo-type fold (1);	0.230166	0.44285	D	0.000479	T	0.56217	0.1970	M	0.64170	1.965	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.50634	-0.8805	10	0.51188	T	0.08	-28.0995	20.3075	0.98634	0.0:1.0:0.0:0.0	.	623;835;843	O75122;F5H604;E7ERI8	CLAP2_HUMAN;.;.	H	844;843;835;324;613;623;602;134	ENSP00000419974:D844H;ENSP00000382297:D843H;ENSP00000352581:D835H	ENSP00000304743:D324H	D	-	1	0	CLASP2	33589802	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.506000	0.81665	2.880000	0.98712	0.650000	0.86243	GAT		0.393	CLASP2-001	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000344320.4		NM_001207044		32	54	0	0	0	1	0	32	54		
MLH1	4292	broad.mit.edu	37	3	37035095	37035095	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:37035095C>T	ENST00000231790.2	+	1	273	c.57C>T	c.(55-57)atC>atT	p.I19I	MLH1_ENST00000539477.1_5'Flank|EPM2AIP1_ENST00000322716.5_5'Flank|MLH1_ENST00000455445.2_5'Flank|MLH1_ENST00000458205.2_5'Flank|MLH1_ENST00000536378.1_5'Flank|MLH1_ENST00000435176.1_5'Flank	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	19			I -> F (in HNPCC2; unknown pathological significance). {ECO:0000269|PubMed:12362047}.		ATP catabolic process (GO:0006200)|double-strand break repair via nonhomologous end joining (GO:0006303)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|male meiosis chromosome segregation (GO:0007060)|meiotic metaphase I plate congression (GO:0043060)|mismatch repair (GO:0006298)|negative regulation of mitotic recombination (GO:0045950)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|oogenesis (GO:0048477)|resolution of meiotic recombination intermediates (GO:0000712)|somatic hypermutation of immunoglobulin genes (GO:0016446)|spermatogenesis (GO:0007283)|spindle midzone assembly involved in meiosis (GO:0051257)|synapsis (GO:0007129)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|guanine/thymine mispair binding (GO:0032137)			NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						TGAACCGCATCGCGGCGGGGG	0.567		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													uc003cgl.2		1	yes	Rec	yes	"""Hereditary non-polyposis colorectal cancer, Turcot syndrome"""	3	3p21.3	4292	D|Mis|N|F|S	E.coli MutL homolog gene			"""E, O"""		colorectal|endometrial|ovarian|CNS	colorectal|endometrial|ovarian|CNS		0				large_intestine(40)|haematopoietic_and_lymphoid_tissue(8)|ovary(6)|pancreas(5)|stomach(3)|central_nervous_system(3)|endometrium(3)|breast(3)|prostate(3)|skin(2)|NS(1)	77						c.(55-57)ATC>ATT	MMR	MutL protein homolog 1							92.0	87.0	89.0					3																	37035095		2203	4300	6503	SO:0001819	synonymous_variant	4292	Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding	g.chr3:37035095C>T	U07418	CCDS2663.1, CCDS54562.1, CCDS54563.1	3p22.3	2014-09-17	2013-09-12		ENSG00000076242	ENSG00000076242			7127	protein-coding gene	gene with protein product		120436	"""mutL (E. coli) homolog 1 (colon cancer, nonpolyposis type 2)"", ""mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)"""	COCA2		7903889	Standard	NM_000249		Approved	HNPCC, FCC2, HNPCC2	uc003cgl.3	P40692	OTTHUMG00000130797	ENST00000231790.2:c.57C>T	3.37:g.37035095C>T						MLH1_uc011aye.1_5'Flank|EPM2AIP1_uc003cgk.2_5'Flank|MLH1_uc011ayb.1_5'UTR|MLH1_uc010hge.2_Silent_p.I19I|MLH1_uc003cgn.3_5'Flank|MLH1_uc011ayc.1_5'Flank|MLH1_uc011ayd.1_5'Flank|MLH1_uc003cgo.2_5'Flank	p.I19I	NM_000249	NP_000240	P40692	MLH1_HUMAN			1	117	+			19		I -> F (in HNPCC2; uncertain pathogenicity).			B4DI13|B4DQ11|E9PCU2	Silent	SNP	ENST00000231790.2	37	c.57C>T	CCDS2663.1	.	.	.	.	.	.	.	.	.	.	C	11.92	1.783307	0.31593	.	.	ENSG00000076242	ENST00000456676	.	.	.	5.98	0.013	0.14094	.	.	.	.	.	T	0.49898	0.1584	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.32508	-0.9904	4	.	.	.	-18.6317	4.4095	0.11425	0.2478:0.3401:0.0:0.4121	.	.	.	.	L	11	.	.	S	+	2	0	MLH1	37010099	0.411000	0.25384	0.987000	0.45799	0.962000	0.63368	-0.311000	0.08124	-0.293000	0.08986	-0.972000	0.02603	TCG		0.567	MLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253337.2		NM_000249		15	34	0	0	0	1	0	15	34		
GOLGA4	2803	broad.mit.edu	37	3	37368570	37368570	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:37368570G>A	ENST00000361924.2	+	14	5567	c.5193G>A	c.(5191-5193)caG>caA	p.Q1731Q	GOLGA4_ENST00000356847.4_Silent_p.Q1753Q|GOLGA4_ENST00000444882.1_Intron	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	1731	Glu-rich.				Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GCTGTGTGCAGAAGACATATG	0.373																																						uc003cgv.2		NaN																	0				ovary(2)|breast(1)|central_nervous_system(1)	4						c.(5191-5193)CAG>CAA		golgi autoantigen, golgin subfamily a, 4							120.0	128.0	125.0					3																	37368570		2203	4298	6501	SO:0001819	synonymous_variant	2803				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding	g.chr3:37368570G>A	U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"""golgin 245"""	602509	"""golgi autoantigen, golgin subfamily a, 4"""			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.5193G>A	3.37:g.37368570G>A						GOLGA4_uc010hgr.1_Silent_p.Q1292Q|GOLGA4_uc003cgw.2_Silent_p.Q1753Q|GOLGA4_uc010hgs.2_Intron|GOLGA4_uc003cgx.2_Silent_p.Q1612Q	p.Q1731Q	NM_002078	NP_002069	Q13439	GOGA4_HUMAN			14	5497	+			1731			Potential.|Glu-rich.		F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Silent	SNP	ENST00000361924.2	37	c.5193G>A	CCDS2666.1																																																																																				0.373	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253339.2		NM_002078		39	104	0	0	0	1	0	39	104		
OXSR1	9943	broad.mit.edu	37	3	38292922	38292922	+	Silent	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:38292922C>G	ENST00000311806.3	+	16	1776	c.1404C>G	c.(1402-1404)ctC>ctG	p.L468L		NM_005109.2	NP_005100.1			oxidative stress responsive 1											skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		CTCAGGAACTCATTTCTGCTG	0.468																																						uc003chy.2		NaN																	0				skin(1)	1						c.(1402-1404)CTC>CTG		oxidative-stress responsive 1							320.0	288.0	299.0					3																	38292922		2203	4300	6503	SO:0001819	synonymous_variant	9943				intracellular protein kinase cascade|response to oxidative stress		ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr3:38292922C>G	AB017642	CCDS2675.1	3p22.2	2013-05-17	2013-05-17	2004-11-26	ENSG00000172939	ENSG00000172939			8508	protein-coding gene	gene with protein product		604046	"""oxidative-stress responsive 1"""	OSR1		10083736	Standard	XM_005265638		Approved	KIAA1101	uc003chy.3	O95747	OTTHUMG00000131084	ENST00000311806.3:c.1404C>G	3.37:g.38292922C>G						OXSR1_uc010hhb.2_Silent_p.L402L	p.L468L	NM_005109	NP_005100	O95747	OXSR1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)	16	1746	+			468						Silent	SNP	ENST00000311806.3	37	c.1404C>G	CCDS2675.1																																																																																				0.468	OXSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253744.1		NM_005109		48	138	0	0	0	1	0	48	138		
TTC21A	199223	broad.mit.edu	37	3	39166841	39166841	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:39166841G>T	ENST00000431162.2	+	11	1368	c.1234G>T	c.(1234-1236)Gcc>Tcc	p.A412S	TTC21A_ENST00000301819.6_Missense_Mutation_p.A412S|TTC21A_ENST00000440121.1_Missense_Mutation_p.A363S			Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	412										NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TTTCCTCCAAGCCCTCCTGAT	0.562											OREG0015487	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003cjc.2		NaN																	0				ovary(1)	1						c.(1234-1236)GCC>TCC		tetratricopeptide repeat domain 21A isoform 2							52.0	52.0	52.0					3																	39166841		2020	4174	6194	SO:0001583	missense	199223						binding	g.chr3:39166841G>T	AJ487015	CCDS43068.1, CCDS46800.1, CCDS43068.2	3p22.2	2014-09-04			ENSG00000168026	ENSG00000168026		"""Tetratricopeptide (TTC) repeat domain containing"""	30761	protein-coding gene	gene with protein product		611430					Standard	NM_145755		Approved	STI2	uc003cjc.2	Q8NDW8	OTTHUMG00000155973	ENST00000431162.2:c.1234G>T	3.37:g.39166841G>T	ENSP00000398211:p.Ala412Ser		OREG0015487	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	883	TTC21A_uc003cje.2_Missense_Mutation_p.A412S|TTC21A_uc003cjd.2_RNA|TTC21A_uc011ayx.1_Missense_Mutation_p.A363S	p.A412S	NM_145755	NP_665698	Q8NDW8	TT21A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)	11	1411	+			412					A1L388|B4DYF6|B4DYJ3|D3YTE7|D4PHA5|Q6P5W8|Q8N7G5|Q8NA02	Missense_Mutation	SNP	ENST00000431162.2	37	c.1234G>T	CCDS46800.1	.	.	.	.	.	.	.	.	.	.	G	17.87	3.493800	0.64186	.	.	ENSG00000168026	ENST00000301819;ENST00000424305;ENST00000431162;ENST00000440121	T;T;T	0.35236	1.32;1.32;1.32	5.73	5.73	0.89815	.	0.159591	0.44097	D	0.000483	T	0.56906	0.2017	L	0.60067	1.865	0.58432	D	0.999995	D;D;D	0.89917	0.996;1.0;0.999	D;D;D	0.85130	0.957;0.997;0.994	T	0.44081	-0.9351	10	0.23302	T	0.38	-16.4679	18.6697	0.91506	0.0:0.0:1.0:0.0	.	363;412;412	Q8NDW8-6;Q8NDW8-7;Q8NDW8	.;.;TT21A_HUMAN	S	412;394;412;363	ENSP00000301819:A412S;ENSP00000398211:A412S;ENSP00000410882:A363S	ENSP00000301819:A412S	A	+	1	0	TTC21A	39141845	1.000000	0.71417	1.000000	0.80357	0.094000	0.18550	8.716000	0.91420	2.714000	0.92807	0.609000	0.83330	GCC		0.562	TTC21A-021	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377829.1		NM_145755		29	28	1	0	1.75199e-13	1	1.90972e-13	29	28		
CX3CR1	1524	broad.mit.edu	37	3	39307166	39307166	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:39307166C>T	ENST00000541347.1	-	2	1074	c.835G>A	c.(835-837)Gag>Aag	p.E279K	CX3CR1_ENST00000542107.1_Missense_Mutation_p.E279K|CX3CR1_ENST00000399220.2_Missense_Mutation_p.E279K|CX3CR1_ENST00000358309.3_Missense_Mutation_p.E311K	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	279					cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cerebral cortex cell migration (GO:0021795)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|macrophage chemotaxis (GO:0048246)|microglial cell activation involved in immune response (GO:0002282)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of angiogenesis (GO:0045766)|response to wounding (GO:0009611)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|neuronal cell body membrane (GO:0032809)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	C-X3-C chemokine receptor activity (GO:0016495)|chemokine receptor activity (GO:0004950)			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		GCAACCGTCTCAGTCACACTG	0.468																																						uc003cjl.2		NaN																	0				lung(3)	3						c.(835-837)GAG>AAG		chemokine (C-X3-C motif) receptor 1							136.0	134.0	135.0					3																	39307166		1953	4162	6115	SO:0001583	missense	1524				cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity	g.chr3:39307166C>T	BC028078	CCDS43069.1, CCDS54571.1	3p21.3	2012-08-08	2002-08-22		ENSG00000168329	ENSG00000168329		"""GPCR / Class A : Chemokine receptors : C-X-3-C motif"""	2558	protein-coding gene	gene with protein product		601470	"""chemokine (C-X3-C) receptor 1"""	GPR13, CMKBRL1		9726990, 7646814	Standard	NM_001171171		Approved	CMKDR1, V28, CCRL1	uc021wwc.1	P49238	OTTHUMG00000156249	ENST00000541347.1:c.835G>A	3.37:g.39307166C>T	ENSP00000439140:p.Glu279Lys						p.E279K	NM_001337	NP_001328	P49238	CX3C1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)	2	927	-			279			Helical; Name=7; (Potential).		A0N0N6|B2R5Z4|J3KP17	Missense_Mutation	SNP	ENST00000541347.1	37	c.835G>A	CCDS43069.1	.	.	.	.	.	.	.	.	.	.	C	18.69	3.677425	0.68042	.	.	ENSG00000168329	ENST00000399220;ENST00000538756;ENST00000358309;ENST00000541347;ENST00000542107	T;T;T;T	0.37411	1.2;1.2;1.2;1.2	5.77	5.77	0.91146	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.55210	0.1906	M	0.63169	1.94	0.46678	D	0.999159	D	0.57899	0.981	D	0.64042	0.921	T	0.56080	-0.8038	10	0.87932	D	0	.	14.194	0.65656	0.0:0.8504:0.1496:0.0	.	279	P49238	CX3C1_HUMAN	K	279;287;311;279;279	ENSP00000382166:E279K;ENSP00000351059:E311K;ENSP00000439140:E279K;ENSP00000444928:E279K	ENSP00000351059:E311K	E	-	1	0	CX3CR1	39282170	0.994000	0.37717	0.958000	0.39756	0.353000	0.29299	3.990000	0.56965	2.726000	0.93360	0.655000	0.94253	GAG		0.468	CX3CR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343613.1		NM_001337		39	74	0	0	0	1	0	39	74		
CCR8	1237	broad.mit.edu	37	3	39374656	39374656	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:39374656G>A	ENST00000326306.4	+	2	972	c.834G>A	c.(832-834)ctG>ctA	p.L278L	CCR8_ENST00000414803.1_3'UTR|CCR8_ENST00000545843.1_Silent_p.L195L	NM_005201.3	NP_005192.1	P51685	CCR8_HUMAN	chemokine (C-C motif) receptor 8	278					cell adhesion (GO:0007155)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)|coreceptor activity (GO:0015026)			NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635)		GCCAACAGCTGACTTATGCCA	0.433																																						uc010hhr.2		NaN																	0				ovary(1)|lung(1)	2						c.(832-834)CTG>CTA		chemokine (C-C motif) receptor 8							118.0	111.0	114.0					3																	39374656		2203	4300	6503	SO:0001819	synonymous_variant	1237				cell adhesion|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	coreceptor activity	g.chr3:39374656G>A	D49919	CCDS2684.1	3p22	2012-08-08			ENSG00000179934	ENSG00000179934		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1609	protein-coding gene	gene with protein product		601834		CMKBRL2, CMKBR8		8816377, 8886020	Standard	NM_005201		Approved	CY6, TER1, CKR-L1, GPR-CY6, CDw198	uc010hhr.2	P51685	OTTHUMG00000131290	ENST00000326306.4:c.834G>A	3.37:g.39374656G>A						CCR8_uc003cjm.2_Silent_p.L195L	p.L278L	NM_005201	NP_005192	P51685	CCR8_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635)	2	972	+			278			Extracellular (Potential).		B2RC64|Q3KNQ8|Q3KNR3|Q9BYX5	Silent	SNP	ENST00000326306.4	37	c.834G>A	CCDS2684.1																																																																																				0.433	CCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254058.2		NM_005201		26	30	0	0	0	1	0	26	30		
NKTR	4820	broad.mit.edu	37	3	42687461	42687461	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:42687461C>T	ENST00000232978.8	+	17	4571	c.4383C>T	c.(4381-4383)taC>taT	p.Y1461Y	RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer cell triggering receptor	1461					protein folding (GO:0006457)	membrane (GO:0016020)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		GCAGCAGATACAGTTGAAAAC	0.373																																						uc003clo.2		NaN																	0				ovary(2)|skin(1)	3						c.(4381-4383)TAC>TAT		natural killer-tumor recognition sequence							53.0	55.0	54.0					3																	42687461		2203	4300	6503	SO:0001819	synonymous_variant	4820				protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	g.chr3:42687461C>T		CCDS2702.1	3p22.1	2014-01-20	2014-01-20		ENSG00000114857	ENSG00000114857			7833	protein-coding gene	gene with protein product	"""NK-tumor recognition protein"", ""natural-killer cells cyclophilin-related protein"", ""NK-TR protein"""	161565	"""natural killer-tumor recognition sequence"""			8314596, 8144875	Standard	XM_005265173		Approved	p104	uc003clo.3	P30414	OTTHUMG00000133037	ENST00000232978.8:c.4383C>T	3.37:g.42687461C>T						NKTR_uc003clp.2_Silent_p.Y1209Y|NKTR_uc011azp.1_Missense_Mutation_p.T272I|NKTR_uc003cls.2_Silent_p.Y1161Y	p.Y1461Y	NM_005385	NP_005376	P30414	NKTR_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.24)	17	4530	+			1461						Silent	SNP	ENST00000232978.8	37	c.4383C>T	CCDS2702.1																																																																																				0.373	NKTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256642.2		NM_005385		5	17	0	0	0	1	0	5	17		
CCDC13	152206	broad.mit.edu	37	3	42793446	42793446	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:42793446C>G	ENST00000310232.6	-	5	668	c.585G>C	c.(583-585)caG>caC	p.Q195H	CCDC13_ENST00000435327.2_5'UTR	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	195										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						TGTCTCCCATCTGGGCCCTCG	0.592																																						uc003cly.3		NaN																	0				ovary(1)	1						c.(583-585)CAG>CAC		coiled-coil domain containing 13							84.0	77.0	79.0					3																	42793446		2203	4300	6503	SO:0001583	missense	152206							g.chr3:42793446C>G	AK058196	CCDS2705.1	3p22.1	2005-01-25			ENSG00000244607	ENSG00000244607			26358	protein-coding gene	gene with protein product						12477932	Standard	NM_144719		Approved	FLJ25467	uc003cly.4	Q8IYE1	OTTHUMG00000133046	ENST00000310232.6:c.585G>C	3.37:g.42793446C>G	ENSP00000309836:p.Gln195His					CCDC13_uc003clz.2_Missense_Mutation_p.Q195H|CCDC13_uc011azq.1_Missense_Mutation_p.Q195H	p.Q195H	NM_144719	NP_653320	Q8IYE1	CCD13_HUMAN			5	669	-			195			Potential.			Missense_Mutation	SNP	ENST00000310232.6	37	c.585G>C	CCDS2705.1	.	.	.	.	.	.	.	.	.	.	C	11.45	1.642211	0.29157	.	.	ENSG00000244607	ENST00000310232	T	0.24908	1.83	4.01	2.16	0.27623	.	0.735360	0.13594	N	0.376366	T	0.33323	0.0859	M	0.67953	2.075	0.09310	N	0.999997	P;D;P	0.54207	0.924;0.965;0.904	P;P;P	0.51135	0.66;0.66;0.563	T	0.14364	-1.0475	10	0.66056	D	0.02	.	5.39	0.16240	0.0:0.6816:0.2067:0.1117	.	195;195;195	B4DZD2;Q96LI1;Q8IYE1	.;.;CCD13_HUMAN	H	195	ENSP00000309836:Q195H	ENSP00000309836:Q195H	Q	-	3	2	CCDC13	42768450	0.066000	0.20996	0.151000	0.22473	0.474000	0.32979	0.992000	0.29667	0.607000	0.29982	0.655000	0.94253	CAG		0.592	CCDC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256652.1		NM_144719		6	22	0	0	0	1	0	6	22		
CYP8B1	1582	broad.mit.edu	37	3	42916916	42916916	+	Silent	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:42916916C>G	ENST00000316161.4	-	1	717	c.393G>C	c.(391-393)ctG>ctC	p.L131L	RP11-141M3.5_ENST00000471537.1_RNA|CYP8B1_ENST00000437102.1_Silent_p.L131L|KRBOX1_ENST00000426937.1_Intron	NM_004391.2	NP_004382.2	Q9UNU6	CP8B1_HUMAN	cytochrome P450, family 8, subfamily B, polypeptide 1	131					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|lipid metabolic process (GO:0006629)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity (GO:0033778)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|sterol 12-alpha-hydroxylase activity (GO:0008397)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		CATCCCCCCTCAGATGCTTGG	0.502																																						uc003cmh.2		NaN																	0				ovary(2)	2						c.(391-393)CTG>CTC		cytochrome P450, family 8, subfamily B,							114.0	106.0	109.0					3																	42916916		2203	4300	6503	SO:0001819	synonymous_variant	1582				bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity	g.chr3:42916916C>G	AF090318	CCDS2707.1	3p22.1	2004-02-27	2003-01-14		ENSG00000180432	ENSG00000180432		"""Cytochrome P450s"""	2653	protein-coding gene	gene with protein product		602172	"""cytochrome P450, subfamily VIIIB (sterol 12-alpha-hydroxylase), polypeptide 1"""			10051404	Standard	NM_004391		Approved	CYP12	uc003cmh.3	Q9UNU6	OTTHUMG00000133047	ENST00000316161.4:c.393G>C	3.37:g.42916916C>G						CCBP2_uc003cmd.1_Intron|CCBP2_uc003cmg.2_Intron|CYP8B1_uc010hif.2_Silent_p.L131L	p.L131L	NM_004391	NP_004382	Q9UNU6	CP8B1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)	1	718	-			131					B2RCY3|O75958|Q6NWT2|Q6NWT3	Silent	SNP	ENST00000316161.4	37	c.393G>C	CCDS2707.1																																																																																				0.502	CYP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256653.1		NM_004391		21	54	0	0	0	1	0	21	54		
SETD2	29072	broad.mit.edu	37	3	47098400	47098400	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:47098400G>C	ENST00000409792.3	-	15	6916	c.6874C>G	c.(6874-6876)Caa>Gaa	p.Q2292E		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2292	Gln-rich.|Low charge region.				angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		ATGGTTGCTTGAGACTGTGCA	0.463			"""N, F, S, Mis"""		clear cell renal carcinoma																																	uc003cqs.2		NaN		Rec	yes		3	3p21.31	29072	N|F|S|Mis	SET domain containing 2			E			clear cell renal carcinoma		0				kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1)	32						c.(6874-6876)CAA>GAA		SET domain containing 2							116.0	110.0	112.0					3																	47098400		2203	4300	6503	SO:0001583	missense	29072				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	g.chr3:47098400G>C	AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.6874C>G	3.37:g.47098400G>C	ENSP00000386759:p.Gln2292Glu					SETD2_uc003cqv.2_Missense_Mutation_p.Q2359E	p.Q2292E	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	15	6927	-		Acute lymphoblastic leukemia(5;0.0169)	2292			Gln-rich.|Low charge region.		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	ENST00000409792.3	37	c.6874C>G	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	G	25.7	4.660521	0.88154	.	.	ENSG00000181555	ENST00000451092;ENST00000409792	T	0.45668	0.89	5.2	5.2	0.72013	.	0.144289	0.32785	N	0.005652	T	0.61299	0.2336	L	0.53249	1.67	0.58432	D	0.999995	D;D	0.64830	0.994;0.994	D;D	0.70716	0.97;0.97	T	0.59380	-0.7465	10	0.52906	T	0.07	.	19.2916	0.94102	0.0:0.0:1.0:0.0	.	2292;2292	F2Z317;Q9BYW2	.;SETD2_HUMAN	E	2292	ENSP00000386759:Q2292E	ENSP00000386759:Q2292E	Q	-	1	0	SETD2	47073404	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.143000	0.94623	2.861000	0.98227	0.655000	0.94253	CAA		0.463	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2		NM_014159		23	20	0	0	0	1	0	23	20		
ELP6	54859	broad.mit.edu	37	3	47539889	47539889	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:47539889C>G	ENST00000296149.4	-	6	729	c.559G>C	c.(559-561)Gat>Cat	p.D187H	ELP6_ENST00000439305.1_Missense_Mutation_p.D114H|ELP6_ENST00000446787.1_Missense_Mutation_p.D114H|Y_RNA_ENST00000607813.1_RNA|RP11-708J19.2_ENST00000604904.1_RNA	NM_001031703.2	NP_001026873.2	Q0PNE2	ELP6_HUMAN	elongator acetyltransferase complex subunit 6	187					chromatin organization (GO:0006325)|positive regulation of cell migration (GO:0030335)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Elongator holoenzyme complex (GO:0033588)											TCCTCCGCATCTCCACTGTCG	0.562																																						uc003crk.2		NaN																	0					0						c.(559-561)GAT>CAT		transmembrane protein 103							123.0	125.0	124.0					3																	47539889		2157	4254	6411	SO:0001583	missense	54859							g.chr3:47539889C>G	AK000218	CCDS43082.1	3p21.31	2012-08-14	2012-08-08	2012-08-08	ENSG00000163832	ENSG00000163832		"""Elongator acetyltransferase complex subunits"""	25976	protein-coding gene	gene with protein product		615020	"""transmembrane protein 103"", ""chromosome 3 open reading frame 75"""	TMEM103, C3orf75		22854966	Standard	XM_005265241		Approved	FLJ20211	uc003crk.3	Q0PNE2	OTTHUMG00000133521	ENST00000296149.4:c.559G>C	3.37:g.47539889C>G	ENSP00000296149:p.Asp187His					C3orf75_uc003crj.2_Missense_Mutation_p.D114H|C3orf75_uc011bba.1_Missense_Mutation_p.D138H|C3orf75_uc003crl.1_Missense_Mutation_p.D187H	p.D187H	NM_001031703	NP_001026873	Q0PNE2	CC075_HUMAN			6	678	-			187					Q9BW57|Q9NXJ3	Missense_Mutation	SNP	ENST00000296149.4	37	c.559G>C	CCDS43082.1	.	.	.	.	.	.	.	.	.	.	C	14.56	2.571195	0.45798	.	.	ENSG00000163832	ENST00000296149;ENST00000450051;ENST00000446787;ENST00000439305;ENST00000412761;ENST00000444760	.	.	.	5.75	2.87	0.33458	.	0.361993	0.34245	N	0.004130	T	0.54806	0.1881	M	0.71581	2.175	0.09310	N	1	D;D;D	0.71674	0.997;0.998;0.997	P;D;D	0.67900	0.908;0.954;0.933	T	0.39781	-0.9597	9	0.26408	T	0.33	-36.3039	8.2557	0.31756	0.0:0.7117:0.1335:0.1548	.	163;187;187	B4DP60;C9JAS1;Q0PNE2	.;.;CC075_HUMAN	H	187;163;114;114;114;114	.	ENSP00000296149:D187H	D	-	1	0	C3orf75	47514893	0.960000	0.32886	0.064000	0.19789	0.388000	0.30384	3.053000	0.49901	1.446000	0.47643	0.455000	0.32223	GAT		0.562	ELP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257493.1		NM_017713		28	25	0	0	0	1	0	28	25		
CELSR3	1951	broad.mit.edu	37	3	48678958	48678958	+	Splice_Site	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:48678958C>T	ENST00000164024.4	-	33	9105		c.e33-1		MIR4793_ENST00000577502.1_RNA|CELSR3_ENST00000544264.1_Splice_Site	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3						axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CCATCCACATCTGTGGAGCCA	0.597																																						uc003cul.2		NaN																	0				ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11						c.e33-1		cadherin EGF LAG seven-pass G-type receptor 3							36.0	39.0	38.0					3																	48678958		2203	4295	6498	SO:0001630	splice_region_variant	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48678958C>T	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.8825-1G>A	3.37:g.48678958C>T						CELSR3_uc003cuf.1_Splice_Site_p.D3040_splice|CELSR3_uc010hkf.2_Splice_Site_p.D232_splice|CELSR3_uc010hkg.2_Splice_Site_p.D925_splice	p.D2942_splice	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	33	9106	-								O75092	Splice_Site	SNP	ENST00000164024.4	37	c.8825_splice	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.474310	0.84640	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	.	.	.	5.22	5.22	0.72569	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7791	0.91924	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CELSR3	48653962	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.184000	0.77705	2.436000	0.82500	0.514000	0.50259	.		0.597	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1		NM_001407	Intron	23	17	0	0	0	1	0	23	17		
CELSR3	1951	broad.mit.edu	37	3	48699135	48699135	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:48699135G>C	ENST00000164024.4	-	1	1213	c.933C>G	c.(931-933)aaC>aaG	p.N311K	RP11-148G20.1_ENST00000421275.1_RNA|CELSR3_ENST00000544264.1_Missense_Mutation_p.N311K	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	311					axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AGCGTGCCCGGTTCGCCGAGG	0.706																																						uc003cul.2		NaN																	0				ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11						c.(931-933)AAC>AAG		cadherin EGF LAG seven-pass G-type receptor 3							38.0	43.0	41.0					3																	48699135		2183	4252	6435	SO:0001583	missense	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48699135G>C	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.933C>G	3.37:g.48699135G>C	ENSP00000164024:p.Asn311Lys					CELSR3_uc003cuf.1_Missense_Mutation_p.N381K	p.N311K	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	1	1214	-			311			Extracellular (Potential).		O75092	Missense_Mutation	SNP	ENST00000164024.4	37	c.933C>G	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.160460	0.00321	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.68479	-0.33;-0.32	4.35	1.39	0.22231	.	.	.	.	.	T	0.33876	0.0878	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.06405	0.001;0.002	T	0.24368	-1.0162	9	0.05959	T	0.93	.	0.7581	0.01002	0.2939:0.1635:0.3746:0.168	.	311;381	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	K	311	ENSP00000164024:N311K;ENSP00000445694:N311K	ENSP00000164024:N311K	N	-	3	2	CELSR3	48674139	0.232000	0.23762	0.001000	0.08648	0.311000	0.27955	1.956000	0.40382	0.301000	0.22738	0.655000	0.94253	AAC		0.706	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1		NM_001407		15	28	0	0	0	1	0	15	28		
NCKIPSD	51517	broad.mit.edu	37	3	48716150	48716150	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:48716150G>C	ENST00000294129.2	-	12	1931	c.1812C>G	c.(1810-1812)ttC>ttG	p.F604L	NCKIPSD_ENST00000416649.2_Missense_Mutation_p.F597L|NCKIPSD_ENST00000341520.4_Missense_Mutation_p.F604L	NM_016453.2	NP_057537.1	Q9NZQ3	SPN90_HUMAN	NCK interacting protein with SH3 domain	604					cytoskeleton organization (GO:0007010)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|NLS-bearing protein import into nucleus (GO:0006607)|signal transduction (GO:0007165)	cytosol (GO:0005829)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	cytoskeletal protein binding (GO:0008092)			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GCTCATGTTTGAAGATGCGCA	0.587																																						uc003cun.2		NaN																	0					0						c.(1810-1812)TTC>TTG		NCK interacting protein with SH3 domain isoform							135.0	136.0	136.0					3																	48716150		2203	4300	6503	SO:0001583	missense	51517				cytoskeleton organization|NLS-bearing substrate import into nucleus|signal transduction	intermediate filament|nucleus	cytoskeletal protein binding|SH3 domain binding	g.chr3:48716150G>C	AF178432	CCDS2776.1, CCDS46827.1	3p21	2008-07-18			ENSG00000213672	ENSG00000213672			15486	protein-coding gene	gene with protein product	"""dia interacting protein"", ""diaphanous protein interacting protein"", ""SH3 protein interacting with Nck, 90 kDa"""	606671				10648423, 10619843	Standard	NM_016453		Approved	AF3P21, SPIN90, ORF1, WISH, WASLBP, DIP1	uc003cun.3	Q9NZQ3	OTTHUMG00000133542	ENST00000294129.2:c.1812C>G	3.37:g.48716150G>C	ENSP00000294129:p.Phe604Leu					NCKIPSD_uc003cum.2_Missense_Mutation_p.F597L	p.F604L	NM_016453	NP_057537	Q9NZQ3	SPN90_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	12	1906	-			604					B4DFL5|Q6GU34|Q6SPF3|Q8TC10|Q9UGM8	Missense_Mutation	SNP	ENST00000294129.2	37	c.1812C>G	CCDS2776.1	.	.	.	.	.	.	.	.	.	.	G	17.47	3.398541	0.62177	.	.	ENSG00000213672	ENST00000341520;ENST00000416649;ENST00000294129;ENST00000413374	T;T;T;T	0.33216	1.42;1.42;1.42;1.42	5.37	2.07	0.26955	Domain of unknown function DUF2013 (1);	0.000000	0.85682	U	0.000000	T	0.38348	0.1037	L	0.33624	1.015	0.49389	D	0.99978	D;D	0.62365	0.991;0.989	D;P	0.65010	0.931;0.886	T	0.05084	-1.0907	10	0.33940	T	0.23	.	12.3514	0.55151	0.2219:0.0:0.7781:0.0	.	604;597	Q9NZQ3;Q9NZQ3-3	SPN90_HUMAN;.	L	604;597;604;60	ENSP00000342621:F604L;ENSP00000389059:F597L;ENSP00000294129:F604L;ENSP00000396683:F60L	ENSP00000294129:F604L	F	-	3	2	NCKIPSD	48691154	1.000000	0.71417	0.750000	0.31169	0.948000	0.59901	3.164000	0.50770	0.608000	0.30000	0.563000	0.77884	TTC		0.587	NCKIPSD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257520.1		NM_016453		16	40	0	0	0	1	0	16	40		
USP19	10869	broad.mit.edu	37	3	49153551	49153551	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:49153551G>C	ENST00000398888.2	-	9	1415	c.1097C>G	c.(1096-1098)tCt>tGt	p.S366C	USP19_ENST00000453664.1_Missense_Mutation_p.S457C|USP19_ENST00000398898.2_Missense_Mutation_p.S404C|USP19_ENST00000488993.1_5'Flank|USP19_ENST00000398896.1_Missense_Mutation_p.S172C|USP19_ENST00000417901.1_Missense_Mutation_p.S467C|USP19_ENST00000398892.3_Missense_Mutation_p.S404C|USP19_ENST00000434032.2_Missense_Mutation_p.S467C	NM_006677.2	NP_006668.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	366	CS 2. {ECO:0000255|PROSITE- ProRule:PRU00547}.				ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of skeletal muscle tissue development (GO:0048642)|positive regulation of cell cycle process (GO:0090068)|protein deubiquitination (GO:0016579)|regulation of cellular response to hypoxia (GO:1900037)|regulation of protein stability (GO:0031647)|response to endoplasmic reticulum stress (GO:0034976)|skeletal muscle atrophy (GO:0014732)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|ubiquitin-specific protease activity (GO:0004843)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GTCGATGCGAGAAGCCGTGAA	0.572																																						uc003cwd.1		NaN																	0				ovary(4)|breast(2)|lung(1)	7						c.(1096-1098)TCT>TGT		ubiquitin thioesterase 19							37.0	39.0	38.0					3																	49153551		2050	4205	6255	SO:0001583	missense	10869				ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr3:49153551G>C	AB020698	CCDS43090.1, CCDS56254.1, CCDS56255.1, CCDS56256.1	3p21.31	2005-10-13	2005-08-08		ENSG00000172046	ENSG00000172046		"""Zinc fingers, MYND-type"", ""Ubiquitin-specific peptidases"""	12617	protein-coding gene	gene with protein product		614471	"""ubiquitin specific protease 19"""			12838346	Standard	NM_001199160		Approved	KIAA0891, ZMYND9	uc011bch.2	O94966	OTTHUMG00000133611	ENST00000398888.2:c.1097C>G	3.37:g.49153551G>C	ENSP00000381863:p.Ser366Cys					USP19_uc003cwa.2_Missense_Mutation_p.S172C|USP19_uc003cvz.3_Missense_Mutation_p.S467C|USP19_uc011bcg.1_Missense_Mutation_p.S457C|USP19_uc003cwb.2_Missense_Mutation_p.S452C|USP19_uc003cwc.1_Missense_Mutation_p.S122C|USP19_uc011bch.1_Missense_Mutation_p.S467C|USP19_uc011bci.1_Missense_Mutation_p.S452C	p.S366C	NM_006677	NP_006668	O94966	UBP19_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	9	1258	-			366			CS 2.|Cytoplasmic (Potential).		A5PKX8|A6H8U2|B4DGT3|B4DTZ0|E7EN22|E7ETS0|E9PEG8|Q3KQW4|Q641Q9|Q6NZY8|Q86XV9	Missense_Mutation	SNP	ENST00000398888.2	37	c.1097C>G	CCDS43090.1	.	.	.	.	.	.	.	.	.	.	G	19.41	3.821831	0.71028	.	.	ENSG00000172046	ENST00000398896;ENST00000398898;ENST00000417901;ENST00000453664;ENST00000398892;ENST00000398888;ENST00000434032;ENST00000306026;ENST00000425298	T;T;T;T;T;T;T;T	0.15017	2.46;2.46;2.46;2.46;2.46;2.46;2.46;2.46	5.92	5.92	0.95590	Domain of unknown function DUF1872 (1);CS-like domain (1);HSP20-like chaperone (1);	0.094335	0.41605	D	0.000850	T	0.38268	0.1034	L	0.48642	1.525	0.51233	D	0.999918	D;D;D;D;D;D;D	0.76494	0.999;0.999;0.999;0.996;0.988;0.999;0.996	D;D;D;D;P;D;D	0.71656	0.972;0.965;0.965;0.918;0.881;0.974;0.928	T	0.02411	-1.1163	10	0.87932	D	0	-12.7315	19.9198	0.97084	0.0:0.0:1.0:0.0	.	530;467;457;366;404;452;172	A5PKX8;E9PEG8;E7EN22;O94966;B5MEG5;O94966-2;E7ESU0	.;.;.;UBP19_HUMAN;.;.;.	C	172;404;467;457;404;366;467;452;452	ENSP00000381870:S172C;ENSP00000381872:S404C;ENSP00000395260:S467C;ENSP00000400090:S457C;ENSP00000381867:S404C;ENSP00000381863:S366C;ENSP00000401197:S467C;ENSP00000303503:S452C	ENSP00000303503:S452C	S	-	2	0	USP19	49128555	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.457000	0.80775	2.818000	0.97014	0.655000	0.94253	TCT		0.572	USP19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257721.1		NM_006677		3	16	0	0	0	1	0	3	16		
CCDC36	339834	broad.mit.edu	37	3	49293674	49293674	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:49293674G>A	ENST00000438782.1	+	8	980	c.744G>A	c.(742-744)ctG>ctA	p.L248L	CCDC36_ENST00000296449.5_Silent_p.L248L|CCDC36_ENST00000452691.2_Silent_p.L248L			Q8IYA8	CCD36_HUMAN	coiled-coil domain containing 36	248										endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|urinary_tract(3)	14				BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262)		TAGGCCAGCTGAATGTGCCCA	0.507																																						uc003cwk.2		NaN																	0				ovary(1)|kidney(1)	2						c.(742-744)CTG>CTA		coiled-coil domain containing 36							87.0	85.0	86.0					3																	49293674		2203	4300	6503	SO:0001819	synonymous_variant	339834							g.chr3:49293674G>A	AK058049	CCDS33755.2	3p21.31	2009-08-06			ENSG00000173421	ENSG00000173421			27945	protein-coding gene	gene with protein product	"""cancer/testis antigen 74"""						Standard	NM_178173		Approved	FLJ25320, CT74	uc011bck.1	Q8IYA8	OTTHUMG00000155920	ENST00000438782.1:c.744G>A	3.37:g.49293674G>A						CCDC36_uc011bck.1_Silent_p.L248L	p.L248L	NM_178173	NP_835467	Q8IYA8	CCD36_HUMAN		BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262)	10	1131	+			248					C9JJL0|Q05DG9|Q96LP7	Silent	SNP	ENST00000438782.1	37	c.744G>A	CCDS33755.2																																																																																				0.507	CCDC36-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342332.1		NM_178173		37	23	0	0	0	1	0	37	23		
DOCK3	1795	broad.mit.edu	37	3	51418783	51418783	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:51418783C>T	ENST00000266037.9	+	53	5909	c.5886C>T	c.(5884-5886)gtC>gtT	p.V1962V		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1962					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CAGGGTGCGTCATCCCTCAGG	0.682																																						uc011bds.1		NaN																	0					0						c.(5884-5886)GTC>GTT		dedicator of cytokinesis 3							53.0	62.0	59.0					3																	51418783		2141	4246	6387	SO:0001819	synonymous_variant	1795					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr3:51418783C>T	AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"""dedicator of cyto-kinesis 3"""			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.5886C>T	3.37:g.51418783C>T							p.V1962V	NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)	53	5909	+			1962					O15017	Silent	SNP	ENST00000266037.9	37	c.5886C>T	CCDS46835.1																																																																																				0.682	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5		NM_004947		13	29	0	0	0	1	0	13	29		
NEK4	6787	broad.mit.edu	37	3	52800388	52800388	+	Missense_Mutation	SNP	A	A	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:52800388A>C	ENST00000233027.5	-	3	566	c.364T>G	c.(364-366)Tta>Gta	p.L122V	NEK4_ENST00000535191.1_Missense_Mutation_p.L33V|NEK4_ENST00000383721.4_Missense_Mutation_p.L122V	NM_001193533.1|NM_003157.4	NP_001180462.1|NP_003148.2	P51957	NEK4_HUMAN	NIMA-related kinase 4	122	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10)	26				BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)		TTTTCATGTAAATACTGAGGA	0.333																																						uc003dfq.3		NaN																	0				large_intestine(1)	1						c.(364-366)TTA>GTA		NIMA-related kinase 4							124.0	112.0	116.0					3																	52800388		2203	4300	6503	SO:0001583	missense	6787				cell division|mitosis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr3:52800388A>C	L20321	CCDS2863.1, CCDS54593.1	3p21.1	2012-11-15	2012-11-15	2002-05-10	ENSG00000114904	ENSG00000114904	2.7.11.1		11399	protein-coding gene	gene with protein product	"""serine/threonine protein kinase-2"""	601959	"""serine/threonine kinase 2"", ""NIMA (never in mitosis gene a)-related kinase 4"""	STK2		8208544	Standard	NM_001193533		Approved	NRK2, pp12301	uc003dfq.4	P51957	OTTHUMG00000158836	ENST00000233027.5:c.364T>G	3.37:g.52800388A>C	ENSP00000233027:p.Leu122Val					NEK4_uc011bej.1_Missense_Mutation_p.L33V|NEK4_uc003dfr.2_Missense_Mutation_p.L122V	p.L122V	NM_003157	NP_003148	P51957	NEK4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)	3	553	-			122			Protein kinase.		A5YM70|B2R633|B7Z200|Q6P576	Missense_Mutation	SNP	ENST00000233027.5	37	c.364T>G	CCDS2863.1	.	.	.	.	.	.	.	.	.	.	A	17.89	3.498624	0.64298	.	.	ENSG00000114904	ENST00000233027;ENST00000535191;ENST00000383721;ENST00000461689	T;T;T;T	0.42900	0.99;0.96;0.99;0.96	5.95	4.8	0.61643	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000011	T	0.58337	0.2115	M	0.64676	1.99	0.54753	D	0.999984	D;D;D	0.61080	0.989;0.986;0.989	D;D;D	0.78314	0.991;0.945;0.976	T	0.54728	-0.8250	10	0.29301	T	0.29	.	11.7493	0.51839	0.9317:0.0:0.0683:0.0	.	33;122;122	B7Z200;P51957-2;P51957	.;.;NEK4_HUMAN	V	122;33;122;33	ENSP00000233027:L122V;ENSP00000437703:L33V;ENSP00000373227:L122V;ENSP00000419666:L33V	ENSP00000233027:L122V	L	-	1	2	NEK4	52775428	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.745000	0.68672	1.080000	0.41073	0.533000	0.62120	TTA		0.333	NEK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352386.2		NM_003157		24	15	0	0	0	1	0	24	15		
CCDC66	285331	broad.mit.edu	37	3	56655611	56655611	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:56655611G>A	ENST00000394672.3	+	18	2882	c.2812G>A	c.(2812-2814)Gaa>Aaa	p.E938K	CCDC66_ENST00000436465.2_Missense_Mutation_p.E938K|CCDC66_ENST00000326595.7_Missense_Mutation_p.E904K|FAM208A_ENST00000485156.1_5'Flank|FAM208A_ENST00000431842.2_3'UTR	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66	938					post-embryonic retina morphogenesis in camera-type eye (GO:0060060)|retinal rod cell development (GO:0046548)					breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		GCCTTTAGCTGAAAATCAAGA	0.358																																						uc003dhz.2		NaN																	0				breast(1)	1						c.(2812-2814)GAA>AAA		coiled-coil domain containing 66 isoform 1							125.0	136.0	132.0					3																	56655611		2203	4300	6503	SO:0001583	missense	285331							g.chr3:56655611G>A	AL832692	CCDS33770.2, CCDS46852.1	3p14.3	2006-03-27			ENSG00000180376	ENSG00000180376			27709	protein-coding gene	gene with protein product						14702039	Standard	NR_024460		Approved	DKFZp686C0433	uc003dhz.3	A2RUB6	OTTHUMG00000155748	ENST00000394672.3:c.2812G>A	3.37:g.56655611G>A	ENSP00000378167:p.Glu938Lys					CCDC66_uc003dhy.2_Missense_Mutation_p.E574K|CCDC66_uc003dhu.2_Missense_Mutation_p.E904K|CCDC66_uc003dhx.2_RNA|CCDC66_uc003dia.2_Missense_Mutation_p.E306K|C3orf63_uc003dib.3_3'UTR|C3orf63_uc003dic.3_3'UTR|C3orf63_uc003die.3_3'UTR|C3orf63_uc003did.3_3'UTR	p.E938K	NM_001141947	NP_001135419	A2RUB6	CCD66_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)	18	2899	+			938					B3KWL8|Q4VC34|Q8N949	Missense_Mutation	SNP	ENST00000394672.3	37	c.2812G>A	CCDS46852.1	.	.	.	.	.	.	.	.	.	.	G	4.467	0.086584	0.08583	.	.	ENSG00000180376	ENST00000394672;ENST00000326595;ENST00000436465	T;T;T	0.21361	2.01;2.01;2.01	5.37	1.26	0.21427	.	1.154000	0.06378	N	0.714696	T	0.10937	0.0267	N	0.14661	0.345	0.80722	D	1	B	0.19583	0.037	B	0.20955	0.032	T	0.31971	-0.9924	10	0.21014	T	0.42	-4.394	2.502	0.04636	0.2258:0.1278:0.5152:0.1312	.	938	A2RUB6	CCD66_HUMAN	K	938;904;938	ENSP00000378167:E938K;ENSP00000326050:E904K;ENSP00000404320:E938K	ENSP00000326050:E904K	E	+	1	0	CCDC66	56630651	0.999000	0.42202	1.000000	0.80357	0.832000	0.47134	0.745000	0.26259	0.316000	0.23135	0.561000	0.74099	GAA		0.358	CCDC66-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341473.1		NM_001012506		26	50	0	0	0	1	0	26	50		
DENND6A	201627	broad.mit.edu	37	3	57631450	57631450	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:57631450G>C	ENST00000311128.5	-	11	1045	c.975C>G	c.(973-975)ttC>ttG	p.F325L	RP11-755B10.2_ENST00000470427.1_RNA	NM_152678.2	NP_689891.1	Q8IWF6	DEN6A_HUMAN	DENN/MADD domain containing 6A	325					positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of Rab GTPase activity (GO:0032851)	cytoplasm (GO:0005737)|recycling endosome (GO:0055037)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)										AATAAGGTCGGAAATCACTGA	0.343																																						uc003dja.2		NaN																	0				pancreas(1)	1						c.(973-975)TTC>TTG		hypothetical protein LOC201627							92.0	94.0	94.0					3																	57631450		2203	4300	6503	SO:0001583	missense	201627							g.chr3:57631450G>C	AK074156	CCDS33773.1	3p14.3	2013-10-11	2012-10-03	2012-10-03	ENSG00000174839	ENSG00000174839		"""DENN/MADD domain containing"""	26635	protein-coding gene	gene with protein product			"""family with sequence similarity 116, member A"""	FAM116A		21330364	Standard	NM_152678		Approved	FLJ34969, AFI1A	uc003dja.3	Q8IWF6	OTTHUMG00000158639	ENST00000311128.5:c.975C>G	3.37:g.57631450G>C	ENSP00000311401:p.Phe325Leu						p.F325L	NM_152678	NP_689891	Q8IWF6	F116A_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000621)|KIRC - Kidney renal clear cell carcinoma(284;0.0485)|Kidney(284;0.0607)	11	1046	-			325					Q7Z5T4|Q8N235|Q8TEG8	Missense_Mutation	SNP	ENST00000311128.5	37	c.975C>G	CCDS33773.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.8|22.8	4.341314|4.341314	0.81911|0.81911	.|.	.|.	ENSG00000174839|ENSG00000174839	ENST00000311128|ENST00000477344	.|.	.|.	.|.	6.06|6.06	5.18|5.18	0.71444|0.71444	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.70762|0.70762	0.3261|0.3261	M|M	0.72894|0.72894	2.215|2.215	0.58432|0.58432	D|D	0.999999|0.999999	D|.	0.56287|.	0.975|.	P|.	0.52598|.	0.703|.	T|T	0.71137|0.71137	-0.4680|-0.4680	9|5	0.35671|.	T|.	0.21|.	-14.8959|-14.8959	11.3104|11.3104	0.49360|0.49360	0.1487:0.0:0.8513:0.0|0.1487:0.0:0.8513:0.0	.|.	325|.	Q8IWF6|.	F116A_HUMAN|.	L|A	325|94	.|.	ENSP00000311401:F325L|.	F|P	-|-	3|1	2|0	FAM116A|FAM116A	57606490|57606490	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	1.481000|1.481000	0.35476|0.35476	1.546000|1.546000	0.49388|0.49388	0.650000|0.650000	0.86243|0.86243	TTC|CCG		0.343	DENND6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351594.1		NM_152678		10	29	0	0	0	1	0	10	29		
PXK	54899	broad.mit.edu	37	3	58395832	58395832	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:58395832G>C	ENST00000356151.2	+	16	1520	c.1411G>C	c.(1411-1413)Gct>Cct	p.A471P	PXK_ENST00000302779.5_Missense_Mutation_p.A454P|PXK_ENST00000484288.1_Missense_Mutation_p.A471P|PXK_ENST00000383715.4_Missense_Mutation_p.A454P|PXK_ENST00000536660.1_Missense_Mutation_p.A334P|PXK_ENST00000463280.1_Missense_Mutation_p.A438P|PXK_ENST00000383716.3_Missense_Mutation_p.A438P|PXK_ENST00000479241.1_Missense_Mutation_p.A454P	NM_017771.3	NP_060241.2			PX domain containing serine/threonine kinase											cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)		AAAACGATCTGCTCTTGAAAA	0.408																																						uc003djz.1		NaN																	0				ovary(1)	1						c.(1411-1413)GCT>CCT		PX domain containing serine/threonine kinase							67.0	64.0	65.0					3																	58395832		2203	4300	6503	SO:0001583	missense	54899				cell communication|inflammatory response|negative regulation of ATPase activity|negative regulation of ion transport|regulation of synaptic transmission	centrosome|cytoplasm|nucleus|plasma membrane	actin binding|ATP binding|phosphatidylinositol binding|phosphatidylinositol binding|protein C-terminus binding|protein kinase activity	g.chr3:58395832G>C	AY274811	CCDS2889.1, CCDS74952.1, CCDS74954.1, CCDS74955.1	3p21.2	2008-02-05			ENSG00000168297	ENSG00000168297			23326	protein-coding gene	gene with protein product		611450					Standard	XM_005265255		Approved	FLJ20335	uc003djz.1	Q7Z7A4	OTTHUMG00000159149	ENST00000356151.2:c.1411G>C	3.37:g.58395832G>C	ENSP00000348472:p.Ala471Pro					PXK_uc003djx.1_Missense_Mutation_p.A471P|PXK_uc003djy.1_Missense_Mutation_p.A454P|PXK_uc003dka.1_Missense_Mutation_p.A471P|PXK_uc003dkb.1_Missense_Mutation_p.A388P|PXK_uc003dkc.1_Missense_Mutation_p.A454P|PXK_uc011bfe.1_Missense_Mutation_p.A438P|PXK_uc010hnj.1_Missense_Mutation_p.A438P|PXK_uc003dkd.1_Missense_Mutation_p.A334P|PXK_uc010hnk.1_Missense_Mutation_p.A245P	p.A471P	NM_017771	NP_060241	Q7Z7A4	PXK_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)	16	1510	+			471			Protein kinase.			Missense_Mutation	SNP	ENST00000356151.2	37	c.1411G>C	CCDS2889.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.5|22.5	4.293048|4.293048	0.80914|0.80914	.|.	.|.	ENSG00000168297|ENSG00000168297	ENST00000356151;ENST00000302779;ENST00000383716;ENST00000463280;ENST00000383715;ENST00000484288;ENST00000479241;ENST00000536660;ENST00000493474|ENST00000536750	T;T;T;T;T;T;T;T;T|.	0.63096|.	2.88;2.88;2.88;1.41;1.41;1.41;1.38;2.88;-0.02|.	5.9|5.9	5.9|5.9	0.94986|0.94986	Protein kinase, catalytic domain (1);|.	0.451815|.	0.27340|.	N|.	0.019802|.	T|T	0.51398|0.51398	0.1672|0.1672	N|N	0.08118|0.08118	0|0	0.48696|0.48696	D|D	0.999696|0.999696	P;P;D;P;P;P|.	0.61697|.	0.956;0.853;0.99;0.879;0.853;0.95|.	P;B;D;P;B;P|.	0.64877|.	0.621;0.326;0.93;0.455;0.326;0.555|.	T|T	0.59899|0.59899	-0.7367|-0.7367	10|6	0.39692|0.87932	T|D	0.17|0	-4.0689|-4.0689	18.5132|18.5132	0.90925|0.90925	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	438;438;438;471;454;471|.	E9PD56;Q7Z7A4-6;B4DID9;Q7Z7A4;Q7Z7A4-4;Q7Z7A4-2|.	.;.;.;PXK_HUMAN;.;.|.	P|S	471;454;438;438;454;471;454;334;7|333	ENSP00000348472:A471P;ENSP00000305045:A454P;ENSP00000373222:A438P;ENSP00000417903:A438P;ENSP00000373221:A454P;ENSP00000417915:A471P;ENSP00000419049:A454P;ENSP00000438356:A334P;ENSP00000418836:A7P|.	ENSP00000305045:A454P|ENSP00000439764:C333S	A|C	+|+	1|2	0|0	PXK|PXK	58370872|58370872	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.996000|0.996000	0.88848|0.88848	4.999000|4.999000	0.63934|0.63934	2.811000|2.811000	0.96726|0.96726	0.638000|0.638000	0.83543|0.83543	GCT|TGC		0.408	PXK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353499.1		NM_017771		11	15	0	0	0	1	0	11	15		
OR5H1	26341	broad.mit.edu	37	3	97852408	97852408	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:97852408C>G	ENST00000354565.2	+	1	867	c.867C>G	c.(865-867)atC>atG	p.I289M	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	289						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						ATCCTATCATCTACAGTCTGA	0.343																																						uc011bgt.1		NaN																	0				ovary(1)|breast(1)	2						c.(865-867)ATC>ATG		olfactory receptor, family 5, subfamily H,							86.0	92.0	90.0					3																	97852408		2203	4299	6502	SO:0001583	missense	26341				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97852408C>G	X64988	CCDS33797.1	3q12.1	2012-08-09			ENSG00000231192	ENSG00000231192		"""GPCR / Class A : Olfactory receptors"""	8346	protein-coding gene	gene with protein product						1370859	Standard	NM_001005338		Approved	HTPCRX14, HSHTPCRX14	uc011bgt.2	A6NKK0	OTTHUMG00000160070	ENST00000354565.2:c.867C>G	3.37:g.97852408C>G	ENSP00000346575:p.Ile289Met						p.I289M	NM_001005338	NP_001005338	A6NKK0	OR5H1_HUMAN			1	867	+			289			Helical; Name=7; (Potential).			Missense_Mutation	SNP	ENST00000354565.2	37	c.867C>G	CCDS33797.1	.	.	.	.	.	.	.	.	.	.	C	6.304	0.424136	0.11928	.	.	ENSG00000231192	ENST00000354565	T	0.57273	0.41	3.38	-0.89	0.10577	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48286	D	0.000200	T	0.71074	0.3297	M	0.91612	3.225	0.21802	N	0.999538	D	0.76494	0.999	D	0.69824	0.966	T	0.62296	-0.6884	10	0.87932	D	0	.	7.6628	0.28413	0.0:0.4401:0.0:0.5599	.	289	A6NKK0	OR5H1_HUMAN	M	289	ENSP00000346575:I289M	ENSP00000346575:I289M	I	+	3	3	OR5H1	99335098	0.002000	0.14202	0.587000	0.28692	0.009000	0.06853	-2.250000	0.01187	-0.143000	0.11334	0.195000	0.17529	ATC		0.343	OR5H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359100.2		NM_001005338		20	84	0	0	0	1	0	20	84		
OR5K1	26339	broad.mit.edu	37	3	98189098	98189098	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:98189098C>G	ENST00000332650.5	+	1	775	c.678C>G	c.(676-678)ttC>ttG	p.F226L		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1	226						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TTACTATTTTCAAAATGAAAT	0.343																																						uc003dsm.2		NaN																	0				large_intestine(1)	1						c.(676-678)TTC>TTG		olfactory receptor, family 5, subfamily K,							99.0	103.0	101.0					3																	98189098		2196	4297	6493	SO:0001583	missense	26339				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98189098C>G	X64984	CCDS43115.1	3q11.2	2013-09-23			ENSG00000232382	ENSG00000232382		"""GPCR / Class A : Olfactory receptors"""	8349	protein-coding gene	gene with protein product						1370859	Standard	NM_001004736		Approved	HTPCRX10, HSHTPCRX10	uc003dsm.3	Q8NHB7	OTTHUMG00000160048	ENST00000332650.5:c.678C>G	3.37:g.98189098C>G	ENSP00000373193:p.Phe226Leu						p.F226L	NM_001004736	NP_001004736	Q8NHB7	OR5K1_HUMAN			1	678	+			226			Cytoplasmic (Potential).		B9EGY5|Q6IF46	Missense_Mutation	SNP	ENST00000332650.5	37	c.678C>G	CCDS43115.1	.	.	.	.	.	.	.	.	.	.	C	0.012	-1.652826	0.00785	.	.	ENSG00000232382	ENST00000332650	T	0.00013	9.26	4.75	2.95	0.34219	GPCR, rhodopsin-like superfamily (1);	0.320512	0.22638	N	0.057481	T	0.00039	0.0001	N	0.00300	-1.685	0.09310	N	1	B	0.27316	0.175	B	0.37304	0.246	T	0.40553	-0.9557	10	0.02654	T	1	-6.5468	3.4029	0.07330	0.1773:0.5579:0.1716:0.0931	.	226	Q8NHB7	OR5K1_HUMAN	L	226	ENSP00000373193:F226L	ENSP00000373193:F226L	F	+	3	2	OR5K1	99671788	0.000000	0.05858	0.899000	0.35326	0.371000	0.29859	-0.341000	0.07811	0.596000	0.29794	0.563000	0.77884	TTC		0.343	OR5K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359019.1				75	58	0	0	0	1	0	75	58		
HHLA2	11148	broad.mit.edu	37	3	108074154	108074154	+	Nonsense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:108074154C>G	ENST00000357759.5	+	5	1025	c.611C>G	c.(610-612)tCa>tGa	p.S204*	HHLA2_ENST00000467562.1_Nonsense_Mutation_p.S140*|HHLA2_ENST00000467761.1_Nonsense_Mutation_p.S204*|HHLA2_ENST00000489514.2_Nonsense_Mutation_p.S204*|HHLA2_ENST00000491820.1_Nonsense_Mutation_p.S204*	NM_007072.2	NP_009003.1	Q9UM44	HHLA2_HUMAN	HERV-H LTR-associating 2	204	Ig-like C1-type.				positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cytokine production (GO:0001819)|T cell costimulation (GO:0031295)	integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						ATTACAGGATCAAATTCATCT	0.403																																						uc003dwy.3		NaN																	0				ovary(1)	1						c.(610-612)TCA>TGA		HERV-H LTR-associating 2 precursor							83.0	81.0	82.0					3																	108074154		1857	4097	5954	SO:0001587	stop_gained	11148					integral to membrane		g.chr3:108074154C>G	AF126162	CCDS46883.1, CCDS63713.1, CCDS74975.1	3q13.13	2013-01-11			ENSG00000114455	ENSG00000114455		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	4905	protein-coding gene	gene with protein product		604371				10444326	Standard	NM_007072		Approved	B7H7	uc003dwz.3	Q9UM44	OTTHUMG00000159224	ENST00000357759.5:c.611C>G	3.37:g.108074154C>G	ENSP00000350402:p.Ser204*					HHLA2_uc011bhl.1_Nonsense_Mutation_p.S140*|HHLA2_uc010hpu.2_Nonsense_Mutation_p.S204*|HHLA2_uc003dwz.2_Nonsense_Mutation_p.S204*	p.S204*	NM_007072	NP_009003	Q9UM44	HHLA2_HUMAN			5	778	+			204			Ig-like C1-type.		B4DKN2|D3DN60|Q9NWQ6	Nonsense_Mutation	SNP	ENST00000357759.5	37	c.611C>G	CCDS46883.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.224513|5.224513	0.95139|0.95139	.|.	.|.	ENSG00000114455|ENSG00000114455	ENST00000482099|ENST00000491820;ENST00000467562;ENST00000357759;ENST00000467761;ENST00000489514	.|.	.|.	.|.	5.71|5.71	3.89|3.89	0.44902|0.44902	.|.	.|0.215050	.|0.23506	.|N	.|0.047451	T|.	0.44371|.	0.1290|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.54029|.	-0.8354|.	3|.	.|.	.|.	.|.	-20.9754|-20.9754	7.1431|7.1431	0.25566|0.25566	0.1695:0.7444:0.0:0.0861|0.1695:0.7444:0.0:0.0861	.|.	.|.	.|.	.|.	M|X	106|204;140;204;204;204	.|.	.|.	I|S	+|+	3|2	3|0	HHLA2|HHLA2	109556844|109556844	0.149000|0.149000	0.22717|0.22717	0.864000|0.864000	0.33941|0.33941	0.846000|0.846000	0.48090|0.48090	0.975000|0.975000	0.29449|0.29449	0.736000|0.736000	0.32559|0.32559	-0.136000|-0.136000	0.14681|0.14681	ATC|TCA		0.403	HHLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353924.1		NM_007072		52	32	0	0	0	1	0	52	32		
TRAT1	50852	broad.mit.edu	37	3	108572606	108572606	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:108572606C>G	ENST00000295756.6	+	6	673	c.443C>G	c.(442-444)tCt>tGt	p.S148C	TRAT1_ENST00000426646.1_Missense_Mutation_p.S111C	NM_016388.2	NP_057472.2	Q6PIZ9	TRAT1_HUMAN	T cell receptor associated transmembrane adaptor 1	148			S -> P (in dbSNP:rs61585973).		cellular defense response (GO:0006968)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of receptor recycling (GO:0001920)|negative regulation of transport (GO:0051051)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell receptor signaling pathway (GO:0050862)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						GCCAGCGTTTCTAAGACCACC	0.458																																						uc003dxi.1		NaN																	0				skin(1)	1						c.(442-444)TCT>TGT		T-cell receptor interacting molecule							96.0	90.0	92.0					3																	108572606		2203	4300	6503	SO:0001583	missense	50852				cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr3:108572606C>G	AJ240084	CCDS33813.1	3q13	2005-05-04	2005-05-04	2005-05-04	ENSG00000163519	ENSG00000163519			30698	protein-coding gene	gene with protein product		604962	"""T cell receptor interacting molecule"""	TCRIM		10663578, 9687533	Standard	NM_016388		Approved	HSPC062, TRIM	uc003dxi.1	Q6PIZ9	OTTHUMG00000159198	ENST00000295756.6:c.443C>G	3.37:g.108572606C>G	ENSP00000295756:p.Ser148Cys					TRAT1_uc010hpx.1_Missense_Mutation_p.S111C	p.S148C	NM_016388	NP_057472	Q6PIZ9	TRAT1_HUMAN			6	587	+			148			Cytoplasmic (Potential).		Q9NZX5	Missense_Mutation	SNP	ENST00000295756.6	37	c.443C>G	CCDS33813.1	.	.	.	.	.	.	.	.	.	.	C	12.79	2.043457	0.36085	.	.	ENSG00000163519	ENST00000295756;ENST00000426646	T;T	0.43294	1.13;0.95	5.85	4.05	0.47172	.	0.408998	0.23764	N	0.044790	T	0.54398	0.1856	M	0.67953	2.075	0.09310	N	1	D;D	0.71674	0.998;0.989	P;P	0.58873	0.847;0.73	T	0.48352	-0.9043	10	0.72032	D	0.01	-18.1976	9.3052	0.37870	0.0:0.8303:0.0:0.1697	.	111;148	C9JF66;Q6PIZ9	.;TRAT1_HUMAN	C	148;111	ENSP00000295756:S148C;ENSP00000410097:S111C	ENSP00000295756:S148C	S	+	2	0	TRAT1	110055296	0.014000	0.17966	0.003000	0.11579	0.007000	0.05969	2.760000	0.47581	1.478000	0.48253	0.655000	0.94253	TCT		0.458	TRAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353794.1		NM_016388		39	74	0	0	0	1	0	39	74		
ATP6V1A	523	broad.mit.edu	37	3	113500007	113500007	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:113500007C>G	ENST00000273398.3	+	3	301	c.193C>G	c.(193-195)Cag>Gag	p.Q65E	ATP6V1A_ENST00000538620.1_Missense_Mutation_p.Q32E	NM_001690.3	NP_001681.2	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A	65					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|microvillus (GO:0005902)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	ATP binding (GO:0005524)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Alendronate(DB00630)|Etidronic acid(DB01077)|Tiludronate(DB01133)	GGCTACTATTCAGGTGTATGA	0.448																																						uc003eao.2		NaN																	0				ovary(2)|skin(1)	3						c.(193-195)CAG>GAG		ATPase, H+ transporting, lysosomal V1 subunit A							176.0	160.0	165.0					3																	113500007		2203	4300	6503	SO:0001583	missense	523				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	g.chr3:113500007C>G	L09235	CCDS2976.1	3q13.31	2010-04-21	2002-08-29	2003-04-25	ENSG00000114573	ENSG00000114573	3.6.3.14	"""ATPases / V-type"""	851	protein-coding gene	gene with protein product		607027	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump), alpha polypeptide, 70kD, isoform 1"""	VPP2, ATP6A1, ATP6V1A1		8463241	Standard	NM_001690		Approved	Vma1, VA68	uc003eao.3	P38606	OTTHUMG00000159295	ENST00000273398.3:c.193C>G	3.37:g.113500007C>G	ENSP00000273398:p.Gln65Glu					ATP6V1A_uc011bik.1_Missense_Mutation_p.Q32E	p.Q65E	NM_001690	NP_001681	P38606	VATA_HUMAN			3	259	+			65					B2RBR8|B7Z1R5|D3DN75|Q53YD9|Q96DY6|Q9UHY3	Missense_Mutation	SNP	ENST00000273398.3	37	c.193C>G	CCDS2976.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.602686	0.87157	.	.	ENSG00000114573	ENST00000273398;ENST00000538620;ENST00000496747;ENST00000475322	D;D;D;D	0.87887	-2.31;-2.31;-2.31;-2.31	5.48	5.48	0.80851	ATPase, F1/V1/A1 complex, alpha/beta subunit, N-terminal (1);ATPase, F1/A1 complex, alpha/beta subunit, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.94228	0.8147	H	0.97918	4.105	0.80722	D	1	P	0.50272	0.933	P	0.47402	0.546	D	0.96189	0.9136	10	0.87932	D	0	-11.511	19.3338	0.94306	0.0:1.0:0.0:0.0	.	65	P38606	VATA_HUMAN	E	65;32;32;65	ENSP00000273398:Q65E;ENSP00000439874:Q32E;ENSP00000417545:Q32E;ENSP00000419294:Q65E	ENSP00000273398:Q65E	Q	+	1	0	ATP6V1A	114982697	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.100000	0.76989	2.542000	0.85734	0.591000	0.81541	CAG		0.448	ATP6V1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354457.1		NM_001690		36	107	0	0	0	1	0	36	107		
KPNA1	3836	broad.mit.edu	37	3	122160940	122160940	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:122160940G>C	ENST00000344337.6	-	10	1117	c.941C>G	c.(940-942)tCt>tGt	p.S314C	KPNA1_ENST00000466923.1_5'UTR|RP11-299J3.8_ENST00000609469.1_RNA	NM_002264.3	NP_002255.3	P52294	IMA5_HUMAN	karyopherin alpha 1 (importin alpha 5)	314	Binding to RAG1.				apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cytokine-mediated signaling pathway (GO:0019221)|intracellular transport of virus (GO:0075733)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|regulation of DNA recombination (GO:0000018)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)|protein transporter activity (GO:0008565)			NS(1)|breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	21				GBM - Glioblastoma multiforme(114;0.0898)		CAAAGCAGGAGAAACCACTTT	0.338																																					Melanoma(12;340 801 11196 19797)	uc003efd.1		NaN																	0					0						c.(940-942)TCT>TGT		karyopherin alpha 1							159.0	164.0	163.0					3																	122160940		2203	4300	6503	SO:0001583	missense	3836				DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|regulation of DNA recombination|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein binding|protein transporter activity	g.chr3:122160940G>C	S75295	CCDS3013.1	3q21	2013-02-14			ENSG00000114030	ENSG00000114030		"""Importins"", ""Armadillo repeat containing"""	6394	protein-coding gene	gene with protein product		600686				8052633	Standard	NM_002264		Approved	SRP1, RCH2, NPI-1, IPOA5	uc003efe.2	P52294	OTTHUMG00000159487	ENST00000344337.6:c.941C>G	3.37:g.122160940G>C	ENSP00000343701:p.Ser314Cys					KPNA1_uc003efb.1_Missense_Mutation_p.S113C|KPNA1_uc003efc.1_Missense_Mutation_p.S113C|KPNA1_uc011bjr.1_Missense_Mutation_p.S113C|KPNA1_uc010hrh.2_Missense_Mutation_p.S113C|KPNA1_uc003efe.2_Missense_Mutation_p.S314C	p.S314C	NM_002264	NP_002255	P52294	IMA1_HUMAN		GBM - Glioblastoma multiforme(114;0.0898)	10	977	-			314			Binding to RAG1.|ARM 6.		D3DN93|Q6IBQ9|Q9BQ56	Missense_Mutation	SNP	ENST00000344337.6	37	c.941C>G	CCDS3013.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.838467	0.91117	.	.	ENSG00000114030	ENST00000344337;ENST00000465882	T;T	0.69685	-0.42;-0.42	5.17	5.17	0.71159	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.82848	0.5126	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.85032	0.0918	10	0.87932	D	0	-12.3536	17.8521	0.88750	0.0:0.0:1.0:0.0	.	314	P52294	IMA1_HUMAN	C	314	ENSP00000343701:S314C;ENSP00000419890:S314C	ENSP00000343701:S314C	S	-	2	0	KPNA1	123643630	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.623000	0.98386	2.692000	0.91855	0.655000	0.94253	TCT		0.338	KPNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355740.1		NM_002264		25	150	0	0	0	1	0	25	150		
ADCY5	111	broad.mit.edu	37	3	123166643	123166643	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:123166643C>T	ENST00000462833.1	-	1	1962	c.750G>A	c.(748-750)gtG>gtA	p.V250V		NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	250					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		GGCACACGAGCACCAGCACGG	0.662																																						uc003egh.1		NaN																	0				ovary(4)	4						c.(748-750)GTG>GTA		adenylate cyclase 5							37.0	37.0	37.0					3																	123166643		2202	4300	6502	SO:0001819	synonymous_variant	111				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr3:123166643C>T	U65473	CCDS3022.1, CCDS56274.1	3q21.1	2013-02-04			ENSG00000173175	ENSG00000173175	4.6.1.1	"""Adenylate cyclases"""	236	protein-coding gene	gene with protein product		600293				10481931	Standard	NM_183357		Approved	AC5	uc003egh.2	O95622	OTTHUMG00000159517	ENST00000462833.1:c.750G>A	3.37:g.123166643C>T							p.V250V	NM_183357	NP_899200	O95622	ADCY5_HUMAN		GBM - Glioblastoma multiforme(114;0.0342)	1	750	-			250			Helical; (Potential).		B7Z8A6|Q7RTV7|Q8NFM3	Silent	SNP	ENST00000462833.1	37	c.750G>A	CCDS3022.1																																																																																				0.662	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355889.4		XM_171048		8	30	0	0	0	1	0	8	30		
HEG1	57493	broad.mit.edu	37	3	124748209	124748209	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:124748209G>A	ENST00000311127.4	-	2	507	c.440C>T	c.(439-441)tCt>tTt	p.S147F		NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	147					cardiac atrium morphogenesis (GO:0003209)|cell-cell junction assembly (GO:0007043)|endothelial cell morphogenesis (GO:0001886)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|lymph circulation (GO:0003017)|lymph vessel development (GO:0001945)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|post-embryonic development (GO:0009791)|regulation of body fluid levels (GO:0050878)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						GCTCTTCCCAGAGGTCTGAAC	0.483																																						uc003ehs.3		NaN																	0				ovary(2)	2						c.(439-441)TCT>TTT		HEG homolog 1 precursor							98.0	91.0	94.0					3																	124748209		1938	4140	6078	SO:0001583	missense	57493					extracellular region|integral to membrane	calcium ion binding	g.chr3:124748209G>A	AK074987	CCDS46898.1	3q21.2	2013-03-08	2013-03-08		ENSG00000173706	ENSG00000173706			29227	protein-coding gene	gene with protein product	"""heart of glass"""	614182	"""HEG homolog 1 (zebrafish)"""			10574462, 19151727, 23007647	Standard	NM_020733		Approved	KIAA1237, HEG	uc003ehs.4	Q9ULI3	OTTHUMG00000159486	ENST00000311127.4:c.440C>T	3.37:g.124748209G>A	ENSP00000311502:p.Ser147Phe					HEG1_uc011bke.1_Missense_Mutation_p.S147F	p.S147F	NM_020733	NP_065784	Q9ULI3	HEG1_HUMAN			2	508	-			147			Extracellular (Potential).		Q6NX66|Q8NC40|Q9BSV0	Missense_Mutation	SNP	ENST00000311127.4	37	c.440C>T	CCDS46898.1	.	.	.	.	.	.	.	.	.	.	G	15.15	2.748829	0.49257	.	.	ENSG00000173706	ENST00000311127	T	0.41065	1.01	5.52	4.63	0.57726	.	.	.	.	.	T	0.29389	0.0732	N	0.19112	0.55	0.09310	N	1	B;B	0.23806	0.091;0.055	B;B	0.19666	0.026;0.012	T	0.11299	-1.0593	9	0.87932	D	0	.	10.3832	0.44123	0.0896:0.0:0.9104:0.0	.	147;147	Q9ULI3-2;Q9ULI3	.;HEG1_HUMAN	F	147	ENSP00000311502:S147F	ENSP00000311502:S147F	S	-	2	0	HEG1	126230899	0.001000	0.12720	0.008000	0.14137	0.025000	0.11179	0.882000	0.28186	2.873000	0.98535	0.563000	0.77884	TCT		0.483	HEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355732.2		XM_087386		20	45	0	0	0	1	0	20	45		
PLXNA1	5361	broad.mit.edu	37	3	126707544	126707544	+	Silent	SNP	T	T	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:126707544T>G	ENST00000393409.2	+	1	108	c.108T>G	c.(106-108)ggT>ggG	p.G36G	PLXNA1_ENST00000251772.4_Silent_p.G13G	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	36	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)	p.G13G(4)		breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CAGGCGGGGGTTCACAGCCCC	0.682																																						uc003ejg.2		NaN																	4	Substitution - coding silent(4)		lung(2)|kidney(2)	ovary(1)|pancreas(1)|skin(1)	3						c.(37-39)GGT>GGG		plexin A1							26.0	27.0	27.0					3																	126707544		2203	4300	6503	SO:0001819	synonymous_variant	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126707544T>G	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.108T>G	3.37:g.126707544T>G							p.G13G	NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	1	43	+			36			Sema.|Extracellular (Potential).			Silent	SNP	ENST00000393409.2	37	c.39T>G	CCDS33847.2																																																																																				0.682	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1		NM_032242		11	20	0	0	0	1	0	11	20		
H1FOO	132243	broad.mit.edu	37	3	129269986	129269986	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:129269986G>C	ENST00000324382.2	+	5	849	c.844G>C	c.(844-846)Gtg>Ctg	p.V282L	H1FOO_ENST00000503977.1_Missense_Mutation_p.V143L	NM_153833.1	NP_722575.1	Q8IZA3	H1FOO_HUMAN	H1 histone family, member O, oocyte-specific	282					meiotic nuclear division (GO:0007126)|negative regulation of stem cell differentiation (GO:2000737)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|regulation of DNA methylation (GO:0044030)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|female germ cell nucleus (GO:0001674)|nucleosome (GO:0000786)|nucleus (GO:0005634)	nucleosomal DNA binding (GO:0031492)			endometrium(1)|lung(4)|skin(1)	6						CAAAAAGAAGGTGGTGGCCAA	0.567																																						uc003emu.2		NaN																	0				skin(1)	1						c.(844-846)GTG>CTG		H1 histone family, member O, oocyte-specific							47.0	54.0	52.0					3																	129269986		2203	4300	6503	SO:0001583	missense	132243				meiosis|nucleosome assembly	cytoplasm|nucleosome	DNA binding	g.chr3:129269986G>C	AY158091	CCDS3064.1	3q21.3	2011-01-27			ENSG00000178804	ENSG00000178804		"""Histones / Replication-independent"""	18463	protein-coding gene	gene with protein product						12408966	Standard	NM_153833		Approved		uc003emu.3	Q8IZA3	OTTHUMG00000159541	ENST00000324382.2:c.844G>C	3.37:g.129269986G>C	ENSP00000319799:p.Val282Leu					H1FOO_uc003emv.2_Missense_Mutation_p.V143L	p.V282L	NM_153833	NP_722575	Q8IZA3	H1FOO_HUMAN			5	849	+			282					Q86WT7	Missense_Mutation	SNP	ENST00000324382.2	37	c.844G>C	CCDS3064.1	.	.	.	.	.	.	.	.	.	.	G	10.71	1.426180	0.25726	.	.	ENSG00000178804	ENST00000324382;ENST00000503977	T;T	0.42900	0.98;0.96	5.12	-6.2	0.02072	.	16.970300	0.00166	N	0.000002	T	0.23532	0.0569	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.13361	-1.0512	10	0.33141	T	0.24	0.9276	6.8349	0.23931	0.2783:0.0:0.5092:0.2125	.	282	Q8IZA3	H1FOO_HUMAN	L	282;143	ENSP00000319799:V282L;ENSP00000422964:V143L	ENSP00000319799:V282L	V	+	1	0	H1FOO	130752676	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.621000	0.05559	-1.103000	0.03019	-1.860000	0.00561	GTG		0.567	H1FOO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356100.3		NM_153833		15	53	0	0	0	1	0	15	53		
NUDT16	131870	broad.mit.edu	37	3	131101103	131101103	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:131101103G>C	ENST00000521288.1	+	2	383	c.352G>C	c.(352-354)Gag>Cag	p.E118Q	NUDT16_ENST00000537561.1_Missense_Mutation_p.E72Q|NUDT16_ENST00000359850.3_Missense_Mutation_p.E85Q|NUDT16_ENST00000502852.1_Missense_Mutation_p.E118Q|RP11-933H2.4_ENST00000502521.1_RNA			Q96DE0	NUD16_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 16	118	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				adenosine to inosine editing (GO:0006382)|dephosphorylation (GO:0016311)|dITP catabolic process (GO:0035863)|IDP catabolic process (GO:0046709)|mRNA catabolic process (GO:0006402)|negative regulation of rRNA processing (GO:2000233)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of cell cycle process (GO:0090068)|positive regulation of cell proliferation (GO:0008284)|positive regulation of double-strand break repair (GO:2000781)|proteolysis (GO:0006508)|small molecule metabolic process (GO:0044281)|snoRNA catabolic process (GO:0016077)|XDP catabolic process (GO:1901639)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cobalt ion binding (GO:0050897)|dIDP diphosphatase activity (GO:0097383)|dITP diphosphatase activity (GO:0035870)|GTP binding (GO:0005525)|inosine-diphosphatase activity (GO:0090450)|ITP binding (GO:1901641)|m7G(5')pppN diphosphatase activity (GO:0050072)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|metalloexopeptidase activity (GO:0008235)|mRNA binding (GO:0003729)|nucleotide phosphatase activity, acting on free nucleotides (GO:0098519)|protein homodimerization activity (GO:0042803)|snoRNA binding (GO:0030515)|XTP binding (GO:1901640)			large_intestine(1)|lung(6)	7						TCTGACGCTCGAGGAGCTGTT	0.657																																						uc003eof.2		NaN																	0					0						c.(253-255)GAG>CAG		nudix-type motif 16							25.0	29.0	28.0					3																	131101103		2200	4299	6499	SO:0001583	missense	131870					nucleolus|nucleoplasm	hydrolase activity|metal ion binding|RNA binding	g.chr3:131101103G>C	AK055827	CCDS3070.1, CCDS3070.2, CCDS54640.1, CCDS54641.1	3q21.3	2005-01-25						"""Nudix motif containing"""	26442	protein-coding gene	gene with protein product						12477932	Standard	NM_152395		Approved	FLJ31265	uc021xec.1	Q96DE0		ENST00000521288.1:c.352G>C	3.37:g.131101103G>C	ENSP00000429274:p.Glu118Gln					uc003eoc.1_5'Flank|NUDT16_uc011bln.1_Missense_Mutation_p.E72Q|NUDT16_uc003eog.1_Missense_Mutation_p.E85Q	p.E85Q	NM_152395	NP_689608	Q96DE0	NUD16_HUMAN			2	294	+			118			Nudix hydrolase.		B4E3B4|E9PED4|F5GYJ1|Q96N82	Missense_Mutation	SNP	ENST00000521288.1	37	c.253G>C	CCDS3070.2	.	.	.	.	.	.	.	.	.	.	G	16.54	3.151790	0.57151	.	.	ENSG00000198585	ENST00000537561;ENST00000359850;ENST00000521288;ENST00000502852	T;T;T;T	0.08102	3.13;3.13;3.13;3.13	3.72	2.85	0.33270	NUDIX hydrolase domain (3);NUDIX hydrolase domain-like (1);	0.243454	0.32093	N	0.006594	T	0.09113	0.0225	L	0.38175	1.15	0.39869	D	0.973486	P;P	0.50156	0.923;0.932	P;P	0.46479	0.518;0.472	T	0.18178	-1.0345	10	0.46703	T	0.11	-21.3455	9.1728	0.37093	0.1106:0.0:0.8894:0.0	.	118;85	Q96DE0;B4E3B4	NUD16_HUMAN;.	Q	72;85;118;118	ENSP00000440230:E72Q;ENSP00000352911:E85Q;ENSP00000429274:E118Q;ENSP00000422375:E118Q	ENSP00000352911:E85Q	E	+	1	0	NUDT16	132583793	1.000000	0.71417	0.867000	0.34043	0.926000	0.56050	2.836000	0.48183	0.922000	0.37019	0.555000	0.69702	GAG		0.657	NUDT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356537.9		NM_152395		13	38	0	0	0	1	0	13	38		
PCOLCE2	26577	broad.mit.edu	37	3	142606552	142606552	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:142606552C>T	ENST00000295992.3	-	2	457	c.151G>A	c.(151-153)Gga>Aga	p.G51R	PCOLCE2_ENST00000461818.1_5'UTR|PCOLCE2_ENST00000485766.1_Missense_Mutation_p.G51R	NM_013363.3	NP_037495.1	Q9UKZ9	PCOC2_HUMAN	procollagen C-endopeptidase enhancer 2	51	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				positive regulation of peptidase activity (GO:0010952)	extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|peptidase activator activity (GO:0016504)			NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						GGGTACACTCCAGGAAAACCT	0.398																																						uc003evd.2		NaN																	0				ovary(2)|skin(1)	3						c.(151-153)GGA>AGA		procollagen C-endopeptidase enhancer 2							90.0	92.0	91.0					3																	142606552		2203	4300	6503	SO:0001583	missense	26577					extracellular region	collagen binding|heparin binding|peptidase activator activity	g.chr3:142606552C>T	AF098269	CCDS3127.1	3q21-q24	2008-07-18			ENSG00000163710	ENSG00000163710			8739	protein-coding gene	gene with protein product		607064				10873381	Standard	NM_013363		Approved	PCPE2	uc003evd.3	Q9UKZ9	OTTHUMG00000159312	ENST00000295992.3:c.151G>A	3.37:g.142606552C>T	ENSP00000295992:p.Gly51Arg						p.G51R	NM_013363	NP_037495	Q9UKZ9	PCOC2_HUMAN			2	347	-			51			CUB 1.		B2RCH9|D3DNG4|Q9BRH3	Missense_Mutation	SNP	ENST00000295992.3	37	c.151G>A	CCDS3127.1	.	.	.	.	.	.	.	.	.	.	C	16.16	3.044856	0.55110	.	.	ENSG00000163710	ENST00000295992;ENST00000485766	T;T	0.30714	1.52;1.52	5.66	5.66	0.87406	CUB (5);	0.000000	0.85682	D	0.000000	T	0.29620	0.0739	L	0.41824	1.3	0.80722	D	1	B	0.26708	0.157	B	0.29663	0.105	T	0.03077	-1.1075	10	0.30854	T	0.27	-15.3298	17.2324	0.86988	0.0:1.0:0.0:0.0	.	51	Q9UKZ9	PCOC2_HUMAN	R	51	ENSP00000295992:G51R;ENSP00000419842:G51R	ENSP00000295992:G51R	G	-	1	0	PCOLCE2	144089242	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.053000	0.76641	2.662000	0.90505	0.655000	0.94253	GGA		0.398	PCOLCE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354509.1		NM_013363		19	30	0	0	0	1	0	19	30		
MLF1	4291	broad.mit.edu	37	3	158314723	158314723	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:158314723G>C	ENST00000355893.5	+	3	406	c.268G>C	c.(268-270)Gaa>Caa	p.E90Q	MLF1_ENST00000359117.5_Missense_Mutation_p.E65Q|MLF1_ENST00000484955.1_Missense_Mutation_p.E65Q|MLF1_ENST00000392822.3_Missense_Mutation_p.E121Q|MLF1_ENST00000482628.1_Missense_Mutation_p.E65Q|MLF1_ENST00000471745.1_Missense_Mutation_p.E80Q|MLF1_ENST00000478894.2_Missense_Mutation_p.E80Q|MLF1_ENST00000497004.1_3'UTR|MLF1_ENST00000469452.1_Missense_Mutation_p.E65Q	NM_022443.4	NP_071888.1	P58340	MLF1_HUMAN	myeloid leukemia factor 1	90	Interaction with COPS3.				cell cycle arrest (GO:0007050)|myeloid progenitor cell differentiation (GO:0002318)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)			large_intestine(3)	3		Melanoma(1037;0.000458)|Prostate(884;0.0235)|all_neural(597;0.0299)	Lung(72;0.00199)|LUSC - Lung squamous cell carcinoma(72;0.00256)			GCAGAAATTAGAAAGAAACTT	0.308			T	NPM1	AML																																	uc003fcb.2		NaN		Dom	yes		3	3q25.1	4291	T	myeloid leukemia factor 1			L	NPM1		AML		0					0						c.(268-270)GAA>CAA		myeloid leukemia factor 1 isoform 1							53.0	53.0	53.0					3																	158314723		2202	4298	6500	SO:0001583	missense	4291				cell cycle arrest|myeloid progenitor cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein domain specific binding	g.chr3:158314723G>C	L49054	CCDS3182.1, CCDS46945.1, CCDS56286.1, CCDS56287.1, CCDS56288.1	3q25	2008-07-18			ENSG00000178053	ENSG00000178053			7125	protein-coding gene	gene with protein product	"""myeloid leukemia factor 1 variant 1"", ""myeloid leukemia factor 1 variant 2"", ""myeloid leukemia factor 1 variant 3"""	601402				8570204	Standard	NM_022443		Approved		uc003fcb.3	P58340	OTTHUMG00000158775	ENST00000355893.5:c.268G>C	3.37:g.158314723G>C	ENSP00000348157:p.Glu90Gln					MLF1_uc003fbz.2_Missense_Mutation_p.E65Q|MLF1_uc003fca.2_Missense_Mutation_p.E65Q|MLF1_uc003fbx.2_Missense_Mutation_p.E80Q|MLF1_uc003fcc.2_Missense_Mutation_p.E121Q|MLF1_uc003fby.2_Missense_Mutation_p.E16Q|MLF1_uc010hvx.2_Missense_Mutation_p.E65Q	p.E90Q	NM_022443	NP_071888	P58340	MLF1_HUMAN	Lung(72;0.00199)|LUSC - Lung squamous cell carcinoma(72;0.00256)		3	405	+		Melanoma(1037;0.000458)|Prostate(884;0.0235)|all_neural(597;0.0299)	90			Interaction with COPS3.		E9PEU9|Q2TLE3|Q2TLE5|Q8N8F8|Q96MH1	Missense_Mutation	SNP	ENST00000355893.5	37	c.268G>C	CCDS3182.1	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.672018	0.00758	.	.	ENSG00000178053	ENST00000491767;ENST00000355893;ENST00000484955;ENST00000359117;ENST00000498592;ENST00000477042;ENST00000471745;ENST00000469452;ENST00000482628;ENST00000478894;ENST00000392822;ENST00000466246	T;T;T;T;T;T;T;T;T;T	0.43294	0.99;1.01;1.0;1.0;0.97;0.99;1.11;1.0;0.99;0.95	5.82	4.95	0.65309	.	0.413761	0.27682	N	0.018300	T	0.15435	0.0372	N	0.00483	-1.445	0.27492	N	0.952268	B;B;B	0.12013	0.002;0.003;0.005	B;B;B	0.12837	0.002;0.007;0.008	T	0.10730	-1.0617	10	0.22706	T	0.39	-11.7075	15.1624	0.72795	0.0:0.8534:0.1466:0.0	.	65;121;90	Q2TLE5;Q8N8F8;P58340	.;.;MLF1_HUMAN	Q	16;90;65;65;45;80;80;65;65;80;121;105	ENSP00000420410:E16Q;ENSP00000348157:E90Q;ENSP00000417835:E65Q;ENSP00000352025:E65Q;ENSP00000419636:E45Q;ENSP00000420134:E80Q;ENSP00000418595:E65Q;ENSP00000417141:E65Q;ENSP00000417777:E80Q;ENSP00000376568:E121Q	ENSP00000348157:E90Q	E	+	1	0	MLF1	159797417	1.000000	0.71417	0.994000	0.49952	0.019000	0.09904	2.059000	0.41384	1.473000	0.48159	-0.171000	0.13296	GAA		0.308	MLF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352164.3		NM_022443		20	6	0	0	0	1	0	20	6		
SMC4	10051	broad.mit.edu	37	3	160150149	160150149	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:160150149G>C	ENST00000357388.3	+	22	3827	c.3376G>C	c.(3376-3378)Gat>Cat	p.D1126H	SMC4_ENST00000469762.1_Missense_Mutation_p.D1101H|SMC4_ENST00000344722.5_Missense_Mutation_p.D1126H|SMC4_ENST00000360111.2_Missense_Mutation_p.D1068H|SMC4_ENST00000462787.1_Missense_Mutation_p.D1068H|RP11-432B6.3_ENST00000483754.1_Intron	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	1126					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)|mitotic sister chromatid segregation (GO:0000070)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GGCATATGAAGATCTTCGGAA	0.338																																						uc003fdh.2		NaN																	0				ovary(1)|breast(1)	2						c.(3376-3378)GAT>CAT		SMC4 structural maintenance of chromosomes							69.0	74.0	72.0					3																	160150149		2197	4297	6494	SO:0001583	missense	10051				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity	g.chr3:160150149G>C	AF092564	CCDS3189.1, CCDS75046.1	3q26.1	2006-07-06	2006-07-06	2006-07-06	ENSG00000113810	ENSG00000113810		"""Structural maintenance of chromosomes proteins"""	14013	protein-coding gene	gene with protein product		605575	"""SMC4 (structural maintenance of chromosomes 4, yeast)-like 1"", ""SMC4 structural maintenance of chromosomes 4-like 1 (yeast)"""	SMC4L1		9789013, 10319587	Standard	NM_005496		Approved	hCAP-C, CAP-C	uc003fdh.3	Q9NTJ3	OTTHUMG00000159006	ENST00000357388.3:c.3376G>C	3.37:g.160150149G>C	ENSP00000349961:p.Asp1126His					IFT80_uc003fda.2_Intron|SMC4_uc003fdi.2_Missense_Mutation_p.D1101H|SMC4_uc003fdj.2_Missense_Mutation_p.D1126H|SMC4_uc010hwd.2_Missense_Mutation_p.D1068H|SMC4_uc003fdl.2_Missense_Mutation_p.D829H	p.D1126H	NM_001002800	NP_001002800	Q9NTJ3	SMC4_HUMAN	Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)		22	3489	+			1126			Potential.		A6NLT9|D3DNL8|O95752|Q8NDL4|Q9UNT9	Missense_Mutation	SNP	ENST00000357388.3	37	c.3376G>C	CCDS3189.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.945809	0.92593	.	.	ENSG00000113810	ENST00000357388;ENST00000360111;ENST00000469762;ENST00000462787;ENST00000344722;ENST00000545277	T;T;T;T;T	0.74737	-0.87;-0.86;-0.87;-0.86;-0.87	5.96	5.96	0.96718	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	D	0.88991	0.6588	M	0.88775	2.98	0.80722	D	1	D;P;D;P	0.76494	0.994;0.457;0.999;0.915	P;P;D;P	0.69824	0.889;0.633;0.966;0.748	D	0.89744	0.3935	10	0.72032	D	0.01	-32.9406	20.3929	0.98965	0.0:0.0:1.0:0.0	.	1068;1101;1101;1126	Q9NTJ3-2;B3KXX5;E9PD53;Q9NTJ3	.;.;.;SMC4_HUMAN	H	1126;1068;1101;1068;1126;720	ENSP00000349961:D1126H;ENSP00000353225:D1068H;ENSP00000417964:D1101H;ENSP00000420734:D1068H;ENSP00000341382:D1126H	ENSP00000341382:D1126H	D	+	1	0	SMC4	161632843	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.915000	0.87484	2.820000	0.97059	0.655000	0.94253	GAT		0.338	SMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352862.1				16	65	0	0	0	1	0	16	65		
PPM1L	151742	broad.mit.edu	37	3	160786817	160786817	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:160786817G>A	ENST00000498165.1	+	4	1056	c.955G>A	c.(955-957)Gag>Aag	p.E319K	PPM1L_ENST00000464260.1_Missense_Mutation_p.E140K|PPM1L_ENST00000480117.1_3'UTR|PPM1L_ENST00000295839.9_Missense_Mutation_p.E192K	NM_139245.2	NP_640338.2	Q5SGD2	PPM1L_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1L	319	PP2C-like.				MAPK cascade (GO:0000165)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			ATTCATCAAGGAGCGCTTGGA	0.468																																					Pancreas(86;250 1994 13715 43211)	uc003fdr.2		NaN																	0				breast(1)	1						c.(955-957)GAG>AAG		protein phosphatase 1 (formerly 2C)-like							96.0	90.0	92.0					3																	160786817		2203	4300	6503	SO:0001583	missense	151742				protein dephosphorylation|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity	g.chr3:160786817G>A	AK055115	CCDS33886.1	3q26.1	2012-04-17	2010-03-05		ENSG00000163590	ENSG00000163590	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	16381	protein-coding gene	gene with protein product	"""PP2Cepsilon"", ""Protein phosphatase 2C epsilon isoform"""	611931	"""protein phosphatase 1 (formerly 2C)-like"""			12556533	Standard	XM_006713507		Approved	PP2CE	uc003fdr.3	Q5SGD2	OTTHUMG00000159048	ENST00000498165.1:c.955G>A	3.37:g.160786817G>A	ENSP00000417659:p.Glu319Lys					PPM1L_uc003fds.2_Missense_Mutation_p.E140K|PPM1L_uc003fdt.2_Missense_Mutation_p.E192K|PPM1L_uc010hwf.2_RNA	p.E319K	NM_139245	NP_640338	Q5SGD2	PPM1L_HUMAN	Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)		4	1056	+			319			Cytoplasmic (Potential).|PP2C-like.		Q2M3J2|Q96NM7	Missense_Mutation	SNP	ENST00000498165.1	37	c.955G>A	CCDS33886.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.083818	0.76642	.	.	ENSG00000163590	ENST00000498165;ENST00000464260;ENST00000295839	T;T;T	0.16457	2.34;2.34;2.34	5.07	5.07	0.68467	Protein phosphatase 2C-like (5);	0.045170	0.85682	D	0.000000	T	0.18593	0.0446	L	0.37750	1.13	0.80722	D	1	P;P	0.48350	0.909;0.843	B;P	0.44860	0.331;0.462	T	0.02015	-1.1229	10	0.26408	T	0.33	.	17.4299	0.87536	0.0:0.0:1.0:0.0	.	192;319	Q5SGD2-3;Q5SGD2	.;PPM1L_HUMAN	K	319;140;192	ENSP00000417659:E319K;ENSP00000420746:E140K;ENSP00000295839:E192K	ENSP00000295839:E192K	E	+	1	0	PPM1L	162269511	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.447000	0.97595	2.354000	0.79902	0.650000	0.86243	GAG		0.468	PPM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353019.1		NM_139245		58	45	0	0	0	1	0	58	45		
PRKCI	5584	broad.mit.edu	37	3	170020896	170020896	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:170020896C>G	ENST00000295797.4	+	18	2077	c.1772C>G	c.(1771-1773)tCt>tGt	p.S591C		NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	protein kinase C, iota	591	AGC-kinase C-terminal.				actin filament organization (GO:0007015)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell junction organization (GO:0045216)|cellular response to insulin stimulus (GO:0032869)|cytoskeleton organization (GO:0007010)|establishment of apical/basal cell polarity (GO:0035089)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|eye photoreceptor cell development (GO:0042462)|Golgi vesicle budding (GO:0048194)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of glucose import (GO:0046326)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein phosphorylation (GO:0006468)|protein targeting to membrane (GO:0006612)|response to interleukin-1 (GO:0070555)|secretion (GO:0046903)|tight junction assembly (GO:0070830)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)	ATP binding (GO:0005524)|phospholipid binding (GO:0005543)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)		Tamoxifen(DB00675)	CTTTTGATGTCTGCAGAAGAA	0.333																																						uc003fgs.2		NaN																	0				lung(2)|ovary(1)|breast(1)|skin(1)	5						c.(1771-1773)TCT>TGT		protein kinase C, iota							151.0	140.0	143.0					3																	170020896		2203	4300	6503	SO:0001583	missense	5584				anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport	cytosol|endosome|nucleus|polarisome	ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding	g.chr3:170020896C>G		CCDS3212.2	3q26.3	2008-07-18			ENSG00000163558	ENSG00000163558	2.7.11.13		9404	protein-coding gene	gene with protein product		600539		DXS1179E		7607695, 11978974	Standard	NM_002740		Approved	PKCI	uc003fgs.2	P41743	OTTHUMG00000150214	ENST00000295797.4:c.1772C>G	3.37:g.170020896C>G	ENSP00000295797:p.Ser591Cys					PRKCI_uc003fgt.2_Missense_Mutation_p.S146C	p.S591C	NM_002740	NP_002731	P41743	KPCI_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)		18	2010	+	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		591			AGC-kinase C-terminal.		D3DNQ4|Q8WW06	Missense_Mutation	SNP	ENST00000295797.4	37	c.1772C>G	CCDS3212.2	.	.	.	.	.	.	.	.	.	.	C	28.0	4.885877	0.91814	.	.	ENSG00000163558	ENST00000295797	T	0.69685	-0.42	5.6	5.6	0.85130	AGC-kinase, C-terminal (1);Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	D	0.86003	0.5829	M	0.90814	3.15	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87551	0.2465	9	.	.	.	.	19.9737	0.97296	0.0:1.0:0.0:0.0	.	591	P41743	KPCI_HUMAN	C	591	ENSP00000295797:S591C	.	S	+	2	0	PRKCI	171503590	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.336000	0.79245	2.793000	0.96121	0.591000	0.81541	TCT		0.333	PRKCI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316866.3		NM_002740		8	40	0	0	0	1	0	8	40		
SKIL	6498	broad.mit.edu	37	3	170108880	170108880	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:170108880G>C	ENST00000458537.3	+	5	2437	c.1728G>C	c.(1726-1728)caG>caC	p.Q576H	SKIL_ENST00000426052.2_Missense_Mutation_p.Q556H|SKIL_ENST00000259119.4_Missense_Mutation_p.Q576H|SKIL_ENST00000413427.2_Missense_Mutation_p.Q530H	NM_001145097.2|NM_001248008.1|NM_005414.4	NP_001138569.1|NP_001234937.1|NP_005405.2	P12757	SKIL_HUMAN	SKI-like proto-oncogene	576					blastocyst formation (GO:0001825)|cell cycle arrest (GO:0007050)|gene expression (GO:0010467)|lens fiber cell differentiation (GO:0070306)|lymphocyte homeostasis (GO:0002260)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of axonogenesis (GO:0050772)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|protein heterotrimerization (GO:0070208)|protein homotrimerization (GO:0070207)|regulation of apoptotic process (GO:0042981)|response to antibiotic (GO:0046677)|response to cytokine (GO:0034097)|response to growth factor (GO:0070848)|skeletal muscle tissue development (GO:0007519)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|protein complex binding (GO:0032403)|protein domain specific binding (GO:0019904)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			AAGAACAGCAGAATTTACAGA	0.313																																						uc003fgu.2		NaN																	0				ovary(2)|skin(1)	3						c.(1726-1728)CAG>CAC		SKI-like isoform 1							51.0	55.0	54.0					3																	170108880		2203	4298	6501	SO:0001583	missense	6498				cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development	cytoplasm|PML body	chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity	g.chr3:170108880G>C	X15217	CCDS33890.1, CCDS46953.1, CCDS46954.1	3q26	2014-06-25	2014-06-25		ENSG00000136603	ENSG00000136603		"""SKI transcriptional corepressors"""	10897	protein-coding gene	gene with protein product		165340	"""SKI-like oncogene"""			2762147	Standard	NM_005414		Approved	SNO, SnoN, SnoA	uc003fgw.3	P12757	OTTHUMG00000158831	ENST00000458537.3:c.1728G>C	3.37:g.170108880G>C	ENSP00000415243:p.Gln576His					SKIL_uc011bps.1_Missense_Mutation_p.Q556H|SKIL_uc003fgv.2_Missense_Mutation_p.Q530H|SKIL_uc003fgw.2_Missense_Mutation_p.Q576H	p.Q576H	NM_005414	NP_005405	P12757	SKIL_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)		6	2440	+	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		576			Potential.		A6NGT1|B4DT50|O00464|P12756|Q07501	Missense_Mutation	SNP	ENST00000458537.3	37	c.1728G>C	CCDS33890.1	.	.	.	.	.	.	.	.	.	.	G	16.74	3.207834	0.58343	.	.	ENSG00000136603	ENST00000259119;ENST00000426052;ENST00000413427;ENST00000458537	D;D;D;D	0.91407	-2.83;-2.83;-2.84;-2.83	5.32	5.32	0.75619	.	0.126776	0.56097	D	0.000032	D	0.89836	0.6830	L	0.51422	1.61	0.43426	D	0.995584	P;B	0.38827	0.649;0.344	B;B	0.40477	0.33;0.053	D	0.90586	0.4533	10	0.66056	D	0.02	-11.7067	19.0568	0.93069	0.0:0.0:1.0:0.0	.	530;576	P12757-3;P12757	.;SKIL_HUMAN	H	576;556;530;576	ENSP00000259119:Q576H;ENSP00000406520:Q556H;ENSP00000400193:Q530H;ENSP00000415243:Q576H	ENSP00000259119:Q576H	Q	+	3	2	SKIL	171591574	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	1.575000	0.36493	2.519000	0.84933	0.650000	0.86243	CAG		0.313	SKIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352351.4		NM_005414		31	10	0	0	0	1	0	31	10		
PIK3CA	5290	broad.mit.edu	37	3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	rs121913273		TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> K (in CLOVE, KERSEB, CRC and BC; also found in glioblastoma multiforme and endometrial carcinoma; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N- terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|E -> Q (found in an endometrial carcinoma sample; unknown pathological significance). {ECO:0000269|PubMed:16322209}.|E -> V (in BC; unknown pathological significance). {ECO:0000269|PubMed:16353168}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E542K(545)|p.E542Q(10)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TCCTCTCTCTGAAATCACTGA	0.333	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.2	E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(CAL51_BREAST)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(VMCUB1_URINARY_TRACT)|E542K(BT483_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			colorectal|gastric|gliobastoma|breast		555	Substitution - Missense(555)	p.E542K(481)|p.E542V(8)|p.E542Q(6)|p.E542G(1)	breast(176)|large_intestine(166)|urinary_tract(45)|endometrium(37)|skin(19)|lung(18)|stomach(16)|ovary(16)|thyroid(14)|upper_aerodigestive_tract(9)|central_nervous_system(7)|cervix(6)|liver(6)|oesophagus(5)|penis(4)|kidney(3)|soft_tissue(2)|haematopoietic_and_lymphoid_tissue(2)|prostate(2)|biliary_tract(1)|pituitary(1)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553						c.(1624-1626)GAA>AAA		phosphoinositide-3-kinase, catalytic, alpha							56.0	56.0	56.0					3																	178936082		1809	4069	5878	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178936082G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1624G>A	3.37:g.178936082G>A	ENSP00000263967:p.Glu542Lys	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E542K	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		10	1781	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		542		E -> V (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).	PI3K helical.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1624G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	34	5.360420	0.95877	.	.	ENSG00000121879	ENST00000263967	T	0.62105	0.05	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69287	0.3094	L	0.41356	1.27	0.80722	D	1	D	0.65815	0.995	D	0.63192	0.912	T	0.60296	-0.7291	10	0.09843	T	0.71	-23.9623	20.0024	0.97423	0.0:0.0:1.0:0.0	.	542	P42336	PK3CA_HUMAN	K	542	ENSP00000263967:E542K	ENSP00000263967:E542K	E	+	1	0	PIK3CA	180418776	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAA		0.333	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2				25	84	0	0	0	1	0	25	84		
MCF2L2	23101	broad.mit.edu	37	3	183097188	183097188	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:183097188C>G	ENST00000328913.3	-	3	469	c.172G>C	c.(172-174)Gag>Cag	p.E58Q	MCF2L2_ENST00000447025.2_Missense_Mutation_p.E58Q|MCF2L2_ENST00000414362.2_Missense_Mutation_p.E58Q|MCF2L2_ENST00000473233.1_Missense_Mutation_p.E58Q	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	58	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			GCGCCATCCTCCCCTCGGCCT	0.512																																						uc003fli.1		NaN																	0				ovary(2)|large_intestine(2)|breast(1)	5						c.(172-174)GAG>CAG		Rho family guanine-nucleotide exchange factor							84.0	74.0	77.0					3																	183097188		2203	4300	6503	SO:0001583	missense	23101				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr3:183097188C>G	AB020668	CCDS3243.1	3q27	2012-07-24			ENSG00000053524	ENSG00000053524		"""Rho guanine nucleotide exchange factors"""	30319	protein-coding gene	gene with protein product							Standard	NM_015078		Approved	KIAA0861, ARHGEF22	uc003fli.1	Q86YR7	OTTHUMG00000158388	ENST00000328913.3:c.172G>C	3.37:g.183097188C>G	ENSP00000328118:p.Glu58Gln					MCF2L2_uc003flj.1_Missense_Mutation_p.E58Q|MCF2L2_uc003flp.1_Missense_Mutation_p.E93Q	p.E58Q	NM_015078	NP_055893	Q86YR7	MF2L2_HUMAN	all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)		3	262	-	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		58			CRAL-TRIO.		O94942|Q6P2B8|Q6ZVJ5|Q8N318	Missense_Mutation	SNP	ENST00000328913.3	37	c.172G>C	CCDS3243.1	.	.	.	.	.	.	.	.	.	.	C	1.394	-0.579929	0.03854	.	.	ENSG00000053524	ENST00000328913;ENST00000473233;ENST00000447025;ENST00000414362;ENST00000482017	T;T;T;T;T	0.62788	-0.0;-0.0;-0.0;-0.0;-0.0	5.19	4.06	0.47325	Cellular retinaldehyde-binding/triple function, C-terminal (2);	0.305219	0.33272	N	0.005083	T	0.28665	0.0710	N	0.01473	-0.845	0.19775	N	0.999959	B;B;B	0.19445	0.003;0.006;0.036	B;B;B	0.19391	0.007;0.007;0.025	T	0.23226	-1.0194	10	0.09084	T	0.74	.	8.282	0.31906	0.0:0.1025:0.0:0.8975	.	58;58;58	Q86YR7-3;Q86YR7-2;Q86YR7	.;.;MF2L2_HUMAN	Q	58;58;58;58;30	ENSP00000328118:E58Q;ENSP00000420070:E58Q;ENSP00000388190:E58Q;ENSP00000414131:E58Q;ENSP00000417345:E30Q	ENSP00000328118:E58Q	E	-	1	0	MCF2L2	184579882	1.000000	0.71417	0.996000	0.52242	0.024000	0.10985	4.165000	0.58196	0.958000	0.37956	0.655000	0.94253	GAG		0.512	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350868.1		NM_015078		23	9	0	0	0	1	0	23	9		
CHRD	8646	broad.mit.edu	37	3	184107170	184107170	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:184107170G>A	ENST00000204604.1	+	23	3074	c.2828G>A	c.(2827-2829)aGa>aAa	p.R943K	CHRD_ENST00000450923.1_Missense_Mutation_p.R942K|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000348986.3_Missense_Mutation_p.R903K|CHRD_ENST00000545352.1_Missense_Mutation_p.R485K	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	943					BMP signaling pathway involved in spinal cord dorsal/ventral patterning (GO:0021919)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|gastrulation with mouth forming second (GO:0001702)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of osteoblast differentiation (GO:0045668)|osteoblast differentiation (GO:0001649)|positive regulation of cell adhesion (GO:0045785)|positive regulation of mesenchymal cell proliferation (GO:0002053)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)	cytokine binding (GO:0019955)|heparin binding (GO:0008201)			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCAGAGACCAGAACTGATCCA	0.607																																						uc003fov.2		NaN																	0				skin(2)|ovary(1)	3						c.(2827-2829)AGA>AAA		chordin precursor							37.0	37.0	37.0					3																	184107170		2203	4300	6503	SO:0001583	missense	8646				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding	g.chr3:184107170G>A	AF076612	CCDS3266.1	3q27	2008-07-18			ENSG00000090539	ENSG00000090539			1949	protein-coding gene	gene with protein product		603475				9782094, 11472837	Standard	NM_003741		Approved		uc003fov.3	Q9H2X0	OTTHUMG00000141267	ENST00000204604.1:c.2828G>A	3.37:g.184107170G>A	ENSP00000204604:p.Arg943Lys					CHRD_uc003fow.2_Missense_Mutation_p.R573K|CHRD_uc003fox.2_Missense_Mutation_p.R942K|CHRD_uc003foy.2_Missense_Mutation_p.R573K|CHRD_uc010hyc.2_Missense_Mutation_p.R533K|CHRD_uc011brr.1_Missense_Mutation_p.R485K	p.R943K	NM_003741	NP_003732	Q9H2X0	CHRD_HUMAN	Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		23	3074	+	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		943					O95254|Q2M1I8|Q6UW83|Q9H2D3|Q9H2W8|Q9H2W9|Q9P0Z2|Q9P0Z3|Q9P0Z4|Q9P0Z5	Missense_Mutation	SNP	ENST00000204604.1	37	c.2828G>A	CCDS3266.1	.	.	.	.	.	.	.	.	.	.	g	16.90	3.250448	0.59212	.	.	ENSG00000090539	ENST00000204604;ENST00000450923;ENST00000348986;ENST00000545352	T;T;T;T	0.43294	2.74;2.57;2.51;0.95	5.04	5.04	0.67666	.	0.744806	0.13164	N	0.408822	T	0.27419	0.0673	N	0.22421	0.69	0.22412	N	0.999121	B;B;B;B	0.25169	0.03;0.119;0.026;0.073	B;B;B;B	0.18263	0.021;0.019;0.008;0.008	T	0.08493	-1.0719	10	0.07325	T	0.83	-20.9471	13.9188	0.63919	0.0:0.0:1.0:0.0	.	485;903;942;943	B7Z6F4;Q9H2X0-5;E7ESX1;Q9H2X0	.;.;.;CHRD_HUMAN	K	943;942;903;485	ENSP00000204604:R943K;ENSP00000408972:R942K;ENSP00000334036:R903K;ENSP00000442948:R485K	ENSP00000204604:R943K	R	+	2	0	CHRD	185589864	0.986000	0.35501	1.000000	0.80357	0.956000	0.61745	1.079000	0.30766	2.342000	0.79632	0.556000	0.70494	AGA		0.607	CHRD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280432.1		NM_003741		6	13	0	0	0	1	0	6	13		
AHSG	197	broad.mit.edu	37	3	186334313	186334313	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:186334313C>G	ENST00000273784.5	+	3	482	c.406C>G	c.(406-408)Cca>Gca	p.P136A	AHSG_ENST00000411641.2_Missense_Mutation_p.P136A	NM_001622.2	NP_001613.2	P02765	FETUA_HUMAN	alpha-2-HS-glycoprotein	136					acute-phase response (GO:0006953)|negative regulation of bone mineralization (GO:0030502)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of phosphorylation (GO:0042326)|ossification (GO:0001503)|pinocytosis (GO:0006907)|positive regulation of phagocytosis (GO:0050766)|regulation of bone mineralization (GO:0030500)|regulation of inflammatory response (GO:0050727)|skeletal system development (GO:0001501)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|kinase inhibitor activity (GO:0019210)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1)	22	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)		TGATTCCAGTCCAGGTACAGA	0.413																																						uc003fqk.3		NaN																	0					0						c.(406-408)CCA>GCA		alpha-2-HS-glycoprotein							106.0	93.0	97.0					3																	186334313		2203	4300	6503	SO:0001583	missense	197				acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development	extracellular space	cysteine-type endopeptidase inhibitor activity|protein binding	g.chr3:186334313C>G	D67013, M16961	CCDS3278.1	3q27.3	2006-02-22			ENSG00000145192	ENSG00000145192			349	protein-coding gene	gene with protein product		138680				9322749, 7736783	Standard	NM_001622		Approved	FETUA, A2HS, HSGA	uc003fqk.4	P02765	OTTHUMG00000156605	ENST00000273784.5:c.406C>G	3.37:g.186334313C>G	ENSP00000273784:p.Pro136Ala					AHSG_uc003fqj.2_Missense_Mutation_p.P136A|AHSG_uc003fql.3_Missense_Mutation_p.P136A|AHSG_uc003fqm.3_Missense_Mutation_p.P135A|AHSG_uc010hyp.2_Missense_Mutation_p.P99A	p.P136A	NM_001622	NP_001613	P02765	FETUA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)	3	487	+	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		136					A8K9N6|B2R7G1|O14961|O14962|Q9P152	Missense_Mutation	SNP	ENST00000273784.5	37	c.406C>G		.	.	.	.	.	.	.	.	.	.	c	18.58	3.654329	0.67472	.	.	ENSG00000145192	ENST00000411641;ENST00000541510;ENST00000273784	T;T	0.08720	3.06;3.12	5.72	5.72	0.89469	Proteinase inhibitor I25C, fetuin, conserved site (1);	0.084448	0.52532	D	0.000075	T	0.32194	0.0821	M	0.84683	2.71	0.48087	D	0.999581	D;P;D;P	0.56035	0.972;0.952;0.974;0.952	D;P;P;P	0.64506	0.926;0.845;0.841;0.685	T	0.01993	-1.1233	10	0.87932	D	0	-17.076	15.7671	0.78135	0.0:1.0:0.0:0.0	.	202;136;136;136	F5H0Q5;P02765;C9JV77;B7Z556	.;FETUA_HUMAN;.;.	A	136;202;136	ENSP00000393887:P136A;ENSP00000273784:P136A	ENSP00000273784:P136A	P	+	1	0	AHSG	187817007	0.989000	0.36119	0.989000	0.46669	0.851000	0.48451	2.920000	0.48844	2.880000	0.98712	0.655000	0.94253	CCA		0.413	AHSG-002	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000344762.1		NM_001622		4	20	0	0	0	1	0	4	20		
CLDN16	10686	broad.mit.edu	37	3	190120206	190120206	+	Silent	SNP	T	T	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:190120206T>C	ENST00000264734.2	+	2	653	c.405T>C	c.(403-405)gaT>gaC	p.D135D	CLDN16_ENST00000456423.1_Intron|CLDN16_ENST00000468220.1_3'UTR	NM_006580.3	NP_006571.1	Q9Y5I7	CLD16_HUMAN	claudin 16	135					calcium-independent cell-cell adhesion (GO:0016338)|cellular metal ion homeostasis (GO:0006875)|excretion (GO:0007588)|magnesium ion transport (GO:0015693)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|magnesium ion transmembrane transporter activity (GO:0015095)|structural molecule activity (GO:0005198)			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|skin(1)	19	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)		ATGAGTACGATTCCATACTTG	0.488																																						uc003fsi.2		NaN																	0				ovary(1)	1						c.(403-405)GAT>GAC		claudin 16							165.0	149.0	155.0					3																	190120206		2203	4300	6503	SO:0001819	synonymous_variant	10686				calcium-independent cell-cell adhesion|cellular metal ion homeostasis|excretion	integral to membrane|tight junction	identical protein binding|magnesium ion transmembrane transporter activity|structural molecule activity	g.chr3:190120206T>C	AF152101	CCDS3296.1	3q28	2008-12-10			ENSG00000113946	ENSG00000113946		"""Claudins"""	2037	protein-coding gene	gene with protein product	"""paracellin-1"", ""hypomagnesemia 3, with hypercalciuria and nephrocalcinosis"""	603959				10390358	Standard	NM_006580		Approved	PCLN1, HOMG3	uc003fsi.3	Q9Y5I7	OTTHUMG00000156215	ENST00000264734.2:c.405T>C	3.37:g.190120206T>C						CLDN16_uc010hze.2_Intron	p.D135D	NM_006580	NP_006571	Q9Y5I7	CLD16_HUMAN	Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)	2	473	+	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		135			Extracellular (Potential).			Silent	SNP	ENST00000264734.2	37	c.405T>C	CCDS3296.1																																																																																				0.488	CLDN16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343519.1		NM_006580		28	89	0	0	0	1	0	28	89		
LSG1	55341	broad.mit.edu	37	3	194371614	194371614	+	Nonsense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:194371614G>C	ENST00000265245.5	-	10	1729	c.1415C>G	c.(1414-1416)tCa>tGa	p.S472*	AC046143.2_ENST00000582474.1_RNA	NM_018385.2	NP_060855.2	Q9H089	LSG1_HUMAN	large 60S subunit nuclear export GTPase 1	472					GTP catabolic process (GO:0006184)|nuclear export (GO:0051168)|protein transport (GO:0015031)|ribosome biogenesis (GO:0042254)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(3)|large_intestine(2)|lung(9)	16	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)		GGATATTAGTGATACAGGAGG	0.418																																						uc003fui.2		NaN																	0					0						c.(1414-1416)TCA>TGA		large subunit GTPase 1							97.0	95.0	96.0					3																	194371614		2203	4300	6503	SO:0001587	stop_gained	55341				nuclear export|protein transport	Cajal body|endoplasmic reticulum	GTP binding|hydrolase activity	g.chr3:194371614G>C		CCDS33922.1	3q29	2013-08-21	2013-08-21		ENSG00000041802	ENSG00000041802			25652	protein-coding gene	gene with protein product		610780	"""large subunit GTPase 1 homolog (S. cerevisiae)"""			11230166	Standard	NM_018385		Approved	FLJ11301	uc003fui.3	Q9H089	OTTHUMG00000156021	ENST00000265245.5:c.1415C>G	3.37:g.194371614G>C	ENSP00000265245:p.Ser472*						p.S472*	NM_018385	NP_060855	Q9H089	LSG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)	10	1730	-	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		472					A0JLT4|A0PJK3|A6NI18|Q7L9H8|Q9NUK8	Nonsense_Mutation	SNP	ENST00000265245.5	37	c.1415C>G	CCDS33922.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.36|14.36	2.511154|2.511154	0.44660|0.44660	.|.	.|.	ENSG00000041802|ENSG00000041802	ENST00000437613|ENST00000265245	.|.	.|.	.|.	5.63|5.63	4.75|4.75	0.60458|0.60458	.|.	.|2.120180	.|0.03633	.|N	.|0.238295	T|.	0.63558|.	0.2521|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.56105|.	-0.8034|.	3|.	.|0.51188	.|T	.|0.08	.|.	14.986|14.986	0.71348|0.71348	0.0686:0.0:0.9314:0.0|0.0686:0.0:0.9314:0.0	.|.	.|.	.|.	.|.	D|X	206|472	.|.	.|ENSP00000265245:S472X	H|S	-|-	1|2	0|0	LSG1|LSG1	195852903|195852903	1.000000|1.000000	0.71417|0.71417	0.092000|0.092000	0.20876|0.20876	0.020000|0.020000	0.10135|0.10135	6.741000|6.741000	0.74837|0.74837	1.530000|1.530000	0.49136|0.49136	0.655000|0.655000	0.94253|0.94253	CAC|TCA		0.418	LSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342740.1		NM_018385		25	49	0	0	0	1	0	25	49		
PPP1R2	5504	broad.mit.edu	37	3	195251628	195251628	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:195251628G>A	ENST00000328432.3	-	3	657	c.297C>T	c.(295-297)atC>atT	p.I99I	RNU6ATAC24P_ENST00000516811.1_RNA	NM_006241.4	NP_006232.1	P41236	IPP2_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 2	99					generation of precursor metabolites and energy (GO:0006091)|glycogen metabolic process (GO:0005977)|negative regulation of catalytic activity (GO:0043086)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of signal transduction (GO:0009966)		protein serine/threonine phosphatase inhibitor activity (GO:0004865)			endometrium(2)|kidney(1)|large_intestine(1)|urinary_tract(2)	6	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)		Epithelial(36;2.64e-22)|all cancers(36;2.69e-20)|OV - Ovarian serous cystadenocarcinoma(49;3.52e-19)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;9.55e-05)		TCCTGGCTAAGATGTCTGGCG	0.468																																						uc003fup.2		NaN																	0				urinary_tract(1)	1						c.(295-297)ATC>ATT		protein phosphatase 1, regulatory subunit 2							99.0	85.0	90.0					3																	195251628		2203	4300	6503	SO:0001819	synonymous_variant	5504				glycogen metabolic process|regulation of phosphoprotein phosphatase activity|regulation of signal transduction		protein binding|protein serine/threonine phosphatase inhibitor activity	g.chr3:195251628G>A	U68111	CCDS3309.1	3q29	2012-04-17			ENSG00000184203	ENSG00000184203	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9288	protein-coding gene	gene with protein product		601792				9126490, 8119416	Standard	XM_006713682		Approved	IPP2	uc003fup.3	P41236	OTTHUMG00000155887	ENST00000328432.3:c.297C>T	3.37:g.195251628G>A							p.I99I	NM_006241	NP_006232	P41236	IPP2_HUMAN	Epithelial(36;2.64e-22)|all cancers(36;2.69e-20)|OV - Ovarian serous cystadenocarcinoma(49;3.52e-19)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;9.55e-05)	3	673	-	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)		99						Silent	SNP	ENST00000328432.3	37	c.297C>T	CCDS3309.1																																																																																				0.468	PPP1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342133.1		NM_006241		21	33	0	0	0	1	0	21	33		
CRMP1	1400	broad.mit.edu	37	4	5851128	5851128	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr4:5851128C>G	ENST00000397890.2	-	6	826	c.612G>C	c.(610-612)ttG>ttC	p.L204F	CRMP1_ENST00000324989.7_Missense_Mutation_p.L318F|CRMP1_ENST00000512574.1_Missense_Mutation_p.L202F|CRMP1_ENST00000511535.1_5'UTR	NM_001313.3	NP_001304.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1	204					axon guidance (GO:0007411)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|pyrimidine nucleobase catabolic process (GO:0006208)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		CCTGAGCTATCAAATCTCCAT	0.458																																						uc003gip.2		NaN																	0				ovary(2)	2						c.(610-612)TTG>TTC		collapsin response mediator protein 1 isoform 2							102.0	93.0	96.0					4																	5851128		2203	4300	6503	SO:0001583	missense	1400				axon guidance|pyrimidine base catabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding	g.chr4:5851128C>G	D78012	CCDS33950.1, CCDS43207.1, CCDS75102.1	4p16.1	2008-05-15			ENSG00000072832	ENSG00000072832			2365	protein-coding gene	gene with protein product		602462				8973361	Standard	XM_005247940		Approved	DRP-1, DPYSL1	uc003gis.3	Q14194	OTTHUMG00000125489	ENST00000397890.2:c.612G>C	4.37:g.5851128C>G	ENSP00000380987:p.Leu204Phe					CRMP1_uc003gin.1_Missense_Mutation_p.L116F|CRMP1_uc003giq.2_Missense_Mutation_p.L204F|CRMP1_uc003gir.2_Missense_Mutation_p.L199F|CRMP1_uc003gis.2_Missense_Mutation_p.L318F	p.L204F	NM_001313	NP_001304	Q14194	DPYL1_HUMAN		Colorectal(103;0.0721)	7	713	-			204					A0EJG6|Q13024|Q4W5F1|Q96TC8	Missense_Mutation	SNP	ENST00000397890.2	37	c.612G>C	CCDS43207.1	.	.	.	.	.	.	.	.	.	.	C	13.57	2.275754	0.40294	.	.	ENSG00000072832	ENST00000324989;ENST00000397890;ENST00000534845;ENST00000512574	D;D;D	0.90385	-2.66;-2.66;-2.66	4.88	4.01	0.46588	Amidohydrolase 1 (1);Metal-dependent hydrolase, composite domain (1);	0.087235	0.48286	D	0.000197	D	0.90448	0.7009	M	0.77103	2.36	0.53005	D	0.999964	B;P;B;B	0.35401	0.039;0.499;0.264;0.097	B;B;B;B	0.37387	0.045;0.248;0.177;0.055	D	0.90484	0.4462	10	0.87932	D	0	-10.7378	12.7504	0.57306	0.0:0.6831:0.3168:0.0	.	318;202;204;141	A0EJG6;E9PD68;Q14194;B3KT07	.;.;DPYL1_HUMAN;.	F	318;204;204;202	ENSP00000321606:L318F;ENSP00000380987:L204F;ENSP00000425742:L202F	ENSP00000321606:L318F	L	-	3	2	CRMP1	5902029	0.997000	0.39634	1.000000	0.80357	0.997000	0.91878	0.350000	0.20079	1.216000	0.43427	0.603000	0.83216	TTG		0.458	CRMP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358871.1		NM_001313		15	59	0	0	0	1	0	15	59		
BOD1L1	259282	broad.mit.edu	37	4	13604756	13604756	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr4:13604756C>G	ENST00000040738.5	-	10	3903	c.3768G>C	c.(3766-3768)ttG>ttC	p.L1256F		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	1256						nucleus (GO:0005634)	DNA binding (GO:0003677)										CTGTGTTTTTCAAATTCTTCT	0.393																																						uc003gmz.1		NaN																	0				ovary(5)|breast(1)	6						c.(3766-3768)TTG>TTC		biorientation of chromosomes in cell division							81.0	77.0	78.0					4																	13604756		2203	4300	6503	SO:0001583	missense	259282						DNA binding	g.chr4:13604756C>G	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.3768G>C	4.37:g.13604756C>G	ENSP00000040738:p.Leu1256Phe					BOD1L_uc010idr.1_Missense_Mutation_p.L593F	p.L1256F	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN			10	3885	-			1256					Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	ENST00000040738.5	37	c.3768G>C	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	C	14.41	2.525832	0.44969	.	.	ENSG00000038219	ENST00000040738	T	0.09911	2.93	5.7	3.88	0.44766	.	0.355287	0.20818	N	0.085110	T	0.07007	0.0178	L	0.29908	0.895	0.09310	N	0.999999	B	0.21381	0.055	B	0.15052	0.012	T	0.21245	-1.0251	10	0.29301	T	0.29	-0.1418	5.968	0.19336	0.3049:0.5482:0.0:0.1469	.	1256	Q8NFC6	BOD1L_HUMAN	F	1256	ENSP00000040738:L1256F	ENSP00000040738:L1256F	L	-	3	2	BOD1L	13213854	0.173000	0.23056	0.706000	0.30403	0.003000	0.03518	-0.122000	0.10627	2.684000	0.91462	0.655000	0.94253	TTG		0.393	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1		NM_148894		6	58	0	0	0	1	0	6	58		
SEL1L3	23231	broad.mit.edu	37	4	25760599	25760599	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr4:25760599G>C	ENST00000399878.3	-	21	3169	c.3047C>G	c.(3046-3048)tCt>tGt	p.S1016C	SEL1L3_ENST00000264868.5_Missense_Mutation_p.S981C|SEL1L3_ENST00000502949.1_Missense_Mutation_p.S863C	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	1016						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						GATGTTATTAGAATGGAGAGT	0.428																																						uc003gru.3		NaN																	0					0						c.(3046-3048)TCT>TGT		sel-1 suppressor of lin-12-like 3							130.0	126.0	127.0					4																	25760599		1871	4109	5980	SO:0001583	missense	23231					integral to membrane	binding	g.chr4:25760599G>C	BC009945	CCDS47037.1, CCDS75113.1	4p15.2	2009-09-24			ENSG00000091490	ENSG00000091490			29108	protein-coding gene	gene with protein product	"""KIAA0746 protein"""					9872452	Standard	XM_005248143		Approved	KIAA0746	uc003gru.4	Q68CR1	OTTHUMG00000160331	ENST00000399878.3:c.3047C>G	4.37:g.25760599G>C	ENSP00000382767:p.Ser1016Cys					SEL1L3_uc003grt.2_Missense_Mutation_p.S64C|SEL1L3_uc003grv.2_Missense_Mutation_p.S423C	p.S1016C	NM_015187	NP_056002	Q68CR1	SE1L3_HUMAN			21	3199	-			1016					A0PJH6|A8K0X2|O94847|Q6P999|Q96G59	Missense_Mutation	SNP	ENST00000399878.3	37	c.3047C>G	CCDS47037.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.32|17.32	3.359339|3.359339	0.61403|0.61403	.|.	.|.	ENSG00000091490|ENSG00000091490	ENST00000510448|ENST00000399878;ENST00000264868;ENST00000502949;ENST00000507618	.|T;T;T	.|0.15952	.|2.59;2.6;2.38	5.67|5.67	5.67|5.67	0.87782|0.87782	.|.	.|0.563862	.|0.19363	.|N	.|0.116098	T|T	0.24928|0.24928	0.0605|0.0605	L|L	0.60455|0.60455	1.87|1.87	0.26908|0.26908	N|N	0.966968|0.966968	.|P;P	.|0.51933	.|0.758;0.949	.|B;P	.|0.46076	.|0.237;0.503	T|T	0.13522|0.13522	-1.0506|-1.0506	5|10	.|0.72032	.|D	.|0.01	-2.1911|-2.1911	14.5909|14.5909	0.68365|0.68365	0.0:0.0:0.8541:0.1459|0.0:0.0:0.8541:0.1459	.|.	.|423;1016	.|B4DTH5;Q68CR1	.|.;SE1L3_HUMAN	V|C	43|1016;981;863;107	.|ENSP00000382767:S1016C;ENSP00000264868:S981C;ENSP00000425438:S863C	.|ENSP00000264868:S981C	L|S	-|-	1|2	2|0	SEL1L3|SEL1L3	25369697|25369697	0.680000|0.680000	0.27605|0.27605	0.170000|0.170000	0.22879|0.22879	0.834000|0.834000	0.47266|0.47266	4.913000|4.913000	0.63341|0.63341	2.665000|2.665000	0.90641|0.90641	0.591000|0.591000	0.81541|0.81541	CTA|TCT		0.428	SEL1L3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360261.1		NM_015187		41	48	0	0	0	1	0	41	48		
RBPJ	3516	broad.mit.edu	37	4	26417162	26417162	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr4:26417162T>C	ENST00000361572.6	+	4	454	c.260T>C	c.(259-261)aTg>aCg	p.M87T	RBPJ_ENST00000507561.1_Missense_Mutation_p.M52T|RBPJ_ENST00000345843.3_Missense_Mutation_p.M72T|RBPJ_ENST00000511401.1_3'UTR|RBPJ_ENST00000504907.1_Missense_Mutation_p.M73T|RBPJ_ENST00000342320.4_Missense_Mutation_p.M73T|RBPJ_ENST00000348160.4_Missense_Mutation_p.M74T|RBPJ_ENST00000342295.1_Missense_Mutation_p.M87T|RBPJ_ENST00000355476.3_Missense_Mutation_p.M73T			Q06330	SUH_HUMAN	recombination signal binding protein for immunoglobulin kappa J region	87					angiogenesis (GO:0001525)|arterial endothelial cell fate commitment (GO:0060844)|atrioventricular canal development (GO:0036302)|auditory receptor cell fate commitment (GO:0009912)|B cell differentiation (GO:0030183)|blood vessel endothelial cell fate specification (GO:0097101)|blood vessel lumenization (GO:0072554)|blood vessel remodeling (GO:0001974)|cardiac left ventricle morphogenesis (GO:0003214)|Clara cell differentiation (GO:0060486)|defense response to bacterium (GO:0042742)|DNA recombination (GO:0006310)|dorsal aorta morphogenesis (GO:0035912)|endocardium morphogenesis (GO:0003160)|epidermal cell fate specification (GO:0009957)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|gene expression (GO:0010467)|hair follicle maturation (GO:0048820)|humoral immune response (GO:0006959)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ossification (GO:0030279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|pituitary gland development (GO:0021983)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:1901297)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of ephrin receptor signaling pathway (GO:1901189)|positive regulation of ERBB signaling pathway (GO:1901186)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription of Notch receptor target (GO:0007221)|regulation of timing of cell differentiation (GO:0048505)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|sebaceous gland development (GO:0048733)|secondary heart field specification (GO:0003139)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|recombinase activity (GO:0000150)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				AAAGAACAAATGGAACGCGAT	0.388																																						uc003grx.1		NaN																	0				ovary(1)|lung(1)|central_nervous_system(1)	3						c.(259-261)ATG>ACG		recombining binding protein suppressor of							120.0	127.0	125.0					4																	26417162		2203	4300	6503	SO:0001583	missense	3516				DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target	cytoplasm|nucleolus|nucleoplasm	DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity	g.chr4:26417162T>C	L07872	CCDS3436.1, CCDS3437.1, CCDS33969.1, CCDS43219.1	4p15.2	2013-10-18	2007-02-26	2007-02-26	ENSG00000168214	ENSG00000168214			5724	protein-coding gene	gene with protein product	"""suppressor of hairless homolog (Drosophila)"""	147183	"""recombining binding protein suppressor of hairless (Drosophila)"""	IGKJRB1, RBPSUH		8406481, 9290259	Standard	NM_005349		Approved	SUH, IGKJRB, RBPJK, KBF2, RBP-J, CBF1	uc003gsb.2	Q06330	OTTHUMG00000097793	ENST00000361572.6:c.260T>C	4.37:g.26417162T>C	ENSP00000354528:p.Met87Thr					RBPJ_uc003gry.1_Missense_Mutation_p.M72T|RBPJ_uc003grz.1_Missense_Mutation_p.M87T|RBPJ_uc011bxt.1_Missense_Mutation_p.M87T|RBPJ_uc003gsa.1_Missense_Mutation_p.M73T|RBPJ_uc003gsb.1_Missense_Mutation_p.M74T|RBPJ_uc003gsc.1_Missense_Mutation_p.M73T	p.M87T	NM_005349	NP_005340	Q06330	SUH_HUMAN			5	496	+		Breast(46;0.0503)	87					B4DY22|Q5XKH9|Q6P1N3	Missense_Mutation	SNP	ENST00000361572.6	37	c.260T>C	CCDS3437.1	.	.	.	.	.	.	.	.	.	.	T	13.97	2.394789	0.42512	.	.	ENSG00000168214	ENST00000512351;ENST00000510778;ENST00000506956;ENST00000512671;ENST00000345843;ENST00000342295;ENST00000361572;ENST00000348160;ENST00000355476;ENST00000507561;ENST00000514730;ENST00000507574;ENST00000514675;ENST00000515573;ENST00000511546;ENST00000504907;ENST00000342320;ENST00000504938	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.82255	-1.59;-1.59;-1.59;-1.59;-1.59;-1.59;-1.59;-1.59;-1.59;-1.59;-1.59;-1.59;-1.59;-1.59;-1.59;-1.59;-1.59;-1.59	5.21	5.21	0.72293	LAG1, DNA binding (2);p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.82070	0.4957	L	0.28115	0.83	0.80722	D	1	B;B;B;B;B;B	0.22080	0.064;0.064;0.037;0.03;0.03;0.037	P;P;P;B;B;P	0.46685	0.524;0.524;0.524;0.389;0.389;0.524	T	0.73795	-0.3870	10	0.10111	T	0.7	-17.2982	15.3474	0.74350	0.0:0.0:0.0:1.0	.	87;73;74;73;72;87	B7Z8D8;D6R927;B4DY22;Q06330-6;Q06330-4;Q06330	.;.;.;.;.;SUH_HUMAN	T	73;110;73;87;72;87;87;74;73;52;73;52;73;52;73;73;73;52	ENSP00000424789:M73T;ENSP00000427170:M110T;ENSP00000425750:M73T;ENSP00000423644:M87T;ENSP00000305815:M72T;ENSP00000345206:M87T;ENSP00000354528:M87T;ENSP00000339699:M74T;ENSP00000347659:M73T;ENSP00000423907:M52T;ENSP00000425061:M73T;ENSP00000422617:M52T;ENSP00000423575:M73T;ENSP00000423406:M52T;ENSP00000422838:M73T;ENSP00000423703:M73T;ENSP00000340124:M73T;ENSP00000424459:M52T	ENSP00000345206:M87T	M	+	2	0	RBPJ	26026260	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.863000	0.62983	2.090000	0.63153	0.528000	0.53228	ATG		0.388	RBPJ-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215046.2		NM_015874		37	94	0	0	0	1	0	37	94		
PCDH7	5099	broad.mit.edu	37	4	30723251	30723251	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr4:30723251G>T	ENST00000361762.2	+	1	1215	c.207G>T	c.(205-207)gaG>gaT	p.E69D	PCDH7_ENST00000543491.1_Missense_Mutation_p.E69D	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	69	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						TCAGCCTGGAGTCCGGTTCCG	0.647																																						uc003gsk.1		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1)	4						c.(205-207)GAG>GAT		protocadherin 7 isoform a precursor							63.0	55.0	58.0					4																	30723251		2203	4300	6503	SO:0001583	missense	5099				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chr4:30723251G>T	AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"""Cadherins / Protocadherins : Non-clustered"""	8659	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 120"""	602988	"""BH-protocadherin (brain-heart)"""			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000361762.2:c.207G>T	4.37:g.30723251G>T	ENSP00000355243:p.Glu69Asp					PCDH7_uc011bxw.1_Missense_Mutation_p.E69D|PCDH7_uc011bxx.1_Missense_Mutation_p.E69D	p.E69D	NM_002589	NP_002580	O60245	PCDH7_HUMAN			1	1215	+			69			Extracellular (Potential).|Cadherin 1.		O60246|O60247|Q4W5C4	Missense_Mutation	SNP	ENST00000361762.2	37	c.207G>T	CCDS33971.1	.	.	.	.	.	.	.	.	.	.	G	14.62	2.589476	0.46214	.	.	ENSG00000169851	ENST00000361762;ENST00000543491;ENST00000333135	T;T	0.27720	1.65;1.65	5.08	5.08	0.68730	Cadherin, N-terminal (1);Cadherin (3);	.	.	.	.	T	0.42899	0.1223	L	0.35487	1.065	0.41231	D	0.986579	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	T	0.21895	-1.0232	9	0.40728	T	0.16	.	12.8908	0.58069	0.0811:0.0:0.9189:0.0	.	69;69;69	F5GWJ1;O60245-3;O60245	.;.;PCDH7_HUMAN	D	69	ENSP00000355243:E69D;ENSP00000441802:E69D	ENSP00000330302:E69D	E	+	3	2	PCDH7	30332349	1.000000	0.71417	0.999000	0.59377	0.665000	0.39181	1.808000	0.38912	2.364000	0.80123	0.305000	0.20034	GAG		0.647	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360366.1		NM_032457, NM_002589		6	34	1	0	3.59834e-05	1	3.70396e-05	6	34		
PCDH7	5099	broad.mit.edu	37	4	30724469	30724469	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr4:30724469C>T	ENST00000361762.2	+	1	2433	c.1425C>T	c.(1423-1425)gaC>gaT	p.D475D	PCDH7_ENST00000543491.1_Silent_p.D475D	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	475	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						CAGCCAGCGACACCGAGGGCG	0.627																																						uc003gsk.1		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1)	4						c.(1423-1425)GAC>GAT		protocadherin 7 isoform a precursor							84.0	63.0	70.0					4																	30724469		2203	4300	6503	SO:0001819	synonymous_variant	5099				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chr4:30724469C>T	AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"""Cadherins / Protocadherins : Non-clustered"""	8659	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 120"""	602988	"""BH-protocadherin (brain-heart)"""			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000361762.2:c.1425C>T	4.37:g.30724469C>T						PCDH7_uc011bxw.1_Silent_p.D428D|PCDH7_uc011bxx.1_Silent_p.D475D	p.D475D	NM_002589	NP_002580	O60245	PCDH7_HUMAN			1	2433	+			475			Extracellular (Potential).|Cadherin 4.		O60246|O60247|Q4W5C4	Silent	SNP	ENST00000361762.2	37	c.1425C>T	CCDS33971.1	.	.	.	.	.	.	.	.	.	.	C	4.146	0.025551	0.08054	.	.	ENSG00000169851	ENST00000511884	.	.	.	5.16	5.16	0.70880	.	.	.	.	.	T	0.70657	0.3249	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.68731	-0.5331	4	.	.	.	.	14.6507	0.68794	0.0:0.8128:0.1872:0.0	.	.	.	.	Y	165	.	.	H	+	1	0	PCDH7	30333567	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.449000	0.35123	2.679000	0.91253	0.655000	0.94253	CAC		0.627	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360366.1		NM_032457, NM_002589		8	31	0	0	0	1	0	8	31		
WDR19	57728	broad.mit.edu	37	4	39280196	39280196	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr4:39280196G>C	ENST00000399820.3	+	36	4109	c.3955G>C	c.(3955-3957)Gaa>Caa	p.E1319Q	WDR19_ENST00000288634.7_Missense_Mutation_p.E1159Q	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	1319					ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium assembly (GO:0042384)|digestive system development (GO:0055123)|ear morphogenesis (GO:0042471)|embryonic camera-type eye development (GO:0031076)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|in utero embryonic development (GO:0001701)|intraciliary retrograde transport (GO:0035721)|myotome development (GO:0061055)|neurological system process (GO:0050877)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|photoreceptor connecting cilium (GO:0032391)				large_intestine(1)	1						TATGTGTTCAGAAAGATTAAA	0.443																																						uc003gtv.2		NaN																	0				large_intestine(1)	1						c.(3955-3957)GAA>CAA		WD repeat domain 19							89.0	85.0	87.0					4																	39280196		1988	4151	6139	SO:0001583	missense	57728				cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding	g.chr4:39280196G>C	AB046858, AY029257	CCDS47042.1	4p14	2014-02-21			ENSG00000157796	ENSG00000157796		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	18340	protein-coding gene	gene with protein product	"""intraflagellar transport 144 homolog (Chlamydomonas)"""	608151				12906858, 22019273	Standard	XM_005262658		Approved	Pwdmp, KIAA1638, FLJ23127, ORF26, DYF-2, Oseg6, IFT144, NPHP13	uc003gtv.3	Q8NEZ3	OTTHUMG00000160466	ENST00000399820.3:c.3955G>C	4.37:g.39280196G>C	ENSP00000382717:p.Glu1319Gln					WDR19_uc011byi.1_Missense_Mutation_p.E1159Q	p.E1319Q	NM_025132	NP_079408	Q8NEZ3	WDR19_HUMAN			36	4109	+			1319					B5MEF2|Q8N5B4|Q9H5S0|Q9HCD4	Missense_Mutation	SNP	ENST00000399820.3	37	c.3955G>C	CCDS47042.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.387036	0.82902	.	.	ENSG00000157796	ENST00000399820;ENST00000288634	T;T	0.65549	-0.16;-0.16	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.66076	0.2753	M	0.74389	2.26	0.80722	D	1	P	0.35700	0.516	B	0.34991	0.193	T	0.68496	-0.5393	10	0.51188	T	0.08	-27.8949	19.6873	0.95984	0.0:0.0:1.0:0.0	.	1319	Q8NEZ3	WDR19_HUMAN	Q	1319;1159	ENSP00000382717:E1319Q;ENSP00000288634:E1159Q	ENSP00000288634:E1159Q	E	+	1	0	WDR19	38956591	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	6.966000	0.76073	2.664000	0.90586	0.591000	0.81541	GAA		0.443	WDR19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360689.1				23	37	0	0	0	1	0	23	37		
TXK	7294	broad.mit.edu	37	4	48078437	48078437	+	Nonsense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr4:48078437G>C	ENST00000264316.4	-	12	1305	c.1220C>G	c.(1219-1221)tCa>tGa	p.S407*	TXK_ENST00000507351.1_Nonsense_Mutation_p.S62*	NM_003328.2	NP_003319.2	P42681	TXK_HUMAN	TXK tyrosine kinase	407	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cytokine production (GO:0001816)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|T cell receptor signaling pathway (GO:0050852)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|RNA polymerase II regulatory region DNA binding (GO:0001012)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						TCCAAAGTCTGAAATTTTTAC	0.308																																						uc003gxx.3		NaN																	0					0						c.(1219-1221)TCA>TGA		TXK tyrosine kinase							91.0	93.0	93.0					4																	48078437		2203	4300	6503	SO:0001587	stop_gained	7294					cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr4:48078437G>C	L27071	CCDS3480.1	4p12	2013-02-14	2003-04-01		ENSG00000074966	ENSG00000074966	2.7.10.1	"""SH2 domain containing"""	12434	protein-coding gene	gene with protein product		600058	"""PTK4 protein tyrosine kinase 4"""	PTK4		7951233, 7528718	Standard	NM_003328		Approved	TKL, PSCTK5, BTKL, RLK	uc003gxx.4	P42681	OTTHUMG00000102065	ENST00000264316.4:c.1220C>G	4.37:g.48078437G>C	ENSP00000264316:p.Ser407*					TXK_uc010igj.2_RNA|TXK_uc011bzj.1_Nonsense_Mutation_p.S94*	p.S407*	NM_003328	NP_003319	P42681	TXK_HUMAN			12	1306	-			407			Protein kinase.		Q14220	Nonsense_Mutation	SNP	ENST00000264316.4	37	c.1220C>G	CCDS3480.1	.	.	.	.	.	.	.	.	.	.	G	38	6.953814	0.97960	.	.	ENSG00000074966	ENST00000264316;ENST00000507351	.	.	.	5.07	5.07	0.68467	.	0.190588	0.36444	N	0.002586	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.6173	0.88071	0.0:0.0:1.0:0.0	.	.	.	.	X	407;62	.	ENSP00000264316:S407X	S	-	2	0	TXK	47773194	1.000000	0.71417	0.965000	0.40720	0.977000	0.68977	6.296000	0.72751	2.624000	0.88883	0.561000	0.74099	TCA		0.308	TXK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219869.7		NM_003328		14	31	0	0	0	1	0	14	31		
TXK	7294	broad.mit.edu	37	4	48078458	48078458	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr4:48078458G>A	ENST00000264316.4	-	12	1284	c.1199C>T	c.(1198-1200)tCa>tTa	p.S400L	TXK_ENST00000507351.1_Missense_Mutation_p.S55L	NM_003328.2	NP_003319.2	P42681	TXK_HUMAN	TXK tyrosine kinase	400	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cytokine production (GO:0001816)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|T cell receptor signaling pathway (GO:0050852)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|RNA polymerase II regulatory region DNA binding (GO:0001012)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						TATGCATGTTGAACTGACCAA	0.323																																						uc003gxx.3		NaN																	0					0						c.(1198-1200)TCA>TTA		TXK tyrosine kinase							95.0	98.0	97.0					4																	48078458		2203	4300	6503	SO:0001583	missense	7294					cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr4:48078458G>A	L27071	CCDS3480.1	4p12	2013-02-14	2003-04-01		ENSG00000074966	ENSG00000074966	2.7.10.1	"""SH2 domain containing"""	12434	protein-coding gene	gene with protein product		600058	"""PTK4 protein tyrosine kinase 4"""	PTK4		7951233, 7528718	Standard	NM_003328		Approved	TKL, PSCTK5, BTKL, RLK	uc003gxx.4	P42681	OTTHUMG00000102065	ENST00000264316.4:c.1199C>T	4.37:g.48078458G>A	ENSP00000264316:p.Ser400Leu					TXK_uc010igj.2_RNA|TXK_uc011bzj.1_Missense_Mutation_p.S87L	p.S400L	NM_003328	NP_003319	P42681	TXK_HUMAN			12	1285	-			400			Protein kinase.		Q14220	Missense_Mutation	SNP	ENST00000264316.4	37	c.1199C>T	CCDS3480.1	.	.	.	.	.	.	.	.	.	.	G	14.48	2.547546	0.45383	.	.	ENSG00000074966	ENST00000264316;ENST00000507351	D;D	0.83335	-1.71;-1.71	5.07	5.07	0.68467	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.370651	0.25138	N	0.032854	D	0.84224	0.5425	M	0.83603	2.65	0.26640	N	0.972309	B;B	0.30973	0.095;0.302	B;B	0.32928	0.1;0.155	T	0.80439	-0.1382	10	0.72032	D	0.01	.	12.9869	0.58596	0.08:0.0:0.92:0.0	.	87;400	B4DTB5;P42681	.;TXK_HUMAN	L	400;55	ENSP00000264316:S400L;ENSP00000423481:S55L	ENSP00000264316:S400L	S	-	2	0	TXK	47773215	0.000000	0.05858	0.990000	0.47175	0.963000	0.63663	0.288000	0.18939	2.624000	0.88883	0.561000	0.74099	TCA		0.323	TXK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219869.7		NM_003328		16	38	0	0	0	1	0	16	38		
SLAIN2	57606	broad.mit.edu	37	4	48371957	48371957	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr4:48371957C>T	ENST00000264313.6	+	2	899	c.481C>T	c.(481-483)Cct>Tct	p.P161S	SLAIN2_ENST00000506375.1_3'UTR	NM_020846.1	NP_065897.1	Q9P270	SLAI2_HUMAN	SLAIN motif family, member 2	161					cytoplasmic microtubule organization (GO:0031122)|microtubule nucleation (GO:0007020)|positive regulation of microtubule polymerization (GO:0031116)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)	13						TTACCCAAGTCCTGATGTTGA	0.358																																						uc003gya.3		NaN																	0					0						c.(481-483)CCT>TCT		SLAIN motif family, member 2							136.0	131.0	132.0					4																	48371957		1842	4085	5927	SO:0001583	missense	57606					centrosome		g.chr4:48371957C>T	BC006139	CCDS47051.1	4p12	2008-02-05	2006-09-12	2006-09-12	ENSG00000109171	ENSG00000109171			29282	protein-coding gene	gene with protein product		610492	"""KIAA1458"""	KIAA1458		16546155	Standard	NM_020846		Approved	FLJ21611	uc003gya.4	Q9P270	OTTHUMG00000161701	ENST00000264313.6:c.481C>T	4.37:g.48371957C>T	ENSP00000264313:p.Pro161Ser						p.P161S	NM_020846	NP_065897	Q9P270	SLAI2_HUMAN			2	625	+			161					A8K4P1|Q8N5R3	Missense_Mutation	SNP	ENST00000264313.6	37	c.481C>T	CCDS47051.1	.	.	.	.	.	.	.	.	.	.	C	32	5.126605	0.94429	.	.	ENSG00000109171	ENST00000264313	.	.	.	5.85	5.85	0.93711	.	0.120314	0.64402	D	0.000019	T	0.80076	0.4557	M	0.72353	2.195	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.79988	-0.1571	9	0.62326	D	0.03	-8.2388	20.1542	0.98100	0.0:1.0:0.0:0.0	.	161	Q9P270	SLAI2_HUMAN	S	161	.	ENSP00000264313:P161S	P	+	1	0	SLAIN2	48066714	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.767000	0.95098	0.563000	0.77884	CCT		0.358	SLAIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365807.4		NM_020846		8	45	0	0	0	1	0	8	45		
PPAT	5471	broad.mit.edu	37	4	57272738	57272738	+	Missense_Mutation	SNP	C	C	T	rs141469911		TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr4:57272738C>T	ENST00000264220.2	-	3	462	c.325G>A	c.(325-327)Gtt>Att	p.V109I	PPAT_ENST00000507648.1_5'UTR	NM_002703.4	NP_002694.3	Q06203	PUR1_HUMAN	phosphoribosyl pyrophosphate amidotransferase	109	Glutamine amidotransferase type-2. {ECO:0000255|PROSITE-ProRule:PRU00609}.				'de novo' IMP biosynthetic process (GO:0006189)|cellular response to drug (GO:0035690)|cellular response to insulin stimulus (GO:0032869)|G1/S transition of mitotic cell cycle (GO:0000082)|glutamine catabolic process (GO:0006543)|kidney development (GO:0001822)|lactation (GO:0007595)|maternal process involved in female pregnancy (GO:0060135)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|organ regeneration (GO:0031100)|protein homotetramerization (GO:0051289)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide biosynthetic process (GO:0006164)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|amidophosphoribosyltransferase activity (GO:0004044)|metal ion binding (GO:0046872)			cervix(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	20	Glioma(25;0.08)|all_neural(26;0.101)				Fluorouracil(DB00544)|L-Glutamine(DB00130)|Mercaptopurine(DB01033)	GTTTCAACAACGAAGGGCTGA	0.378													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19820	0.0		0.0	False		,,,				2504	0.0					uc003hbr.2		NaN																	0					0						c.(325-327)GTT>ATT		phosphoribosyl pyrophosphate amidotransferase	L-Glutamine(DB00130)|Thioguanine(DB00352)	C	ILE/VAL	0,4406		0,0,2203	156.0	130.0	139.0		325	5.6	1.0	4	dbSNP_134	139	1,8599	1.2+/-3.3	0,1,4299	no	missense	PPAT	NM_002703.4	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	109/518	57272738	1,13005	2203	4300	6503	SO:0001583	missense	5471				glutamine metabolic process|nucleoside metabolic process|purine base biosynthetic process|purine ribonucleoside monophosphate biosynthetic process	cytosol	4 iron, 4 sulfur cluster binding|amidophosphoribosyltransferase activity|metal ion binding	g.chr4:57272738C>T		CCDS3505.1	4q12	2012-10-02			ENSG00000128059	ENSG00000128059	2.4.2.14		9238	protein-coding gene	gene with protein product		172450					Standard	NM_002703		Approved	GPAT, PRAT	uc003hbr.3	Q06203	OTTHUMG00000128842	ENST00000264220.2:c.325G>A	4.37:g.57272738C>T	ENSP00000264220:p.Val109Ile						p.V109I	NM_002703	NP_002694	Q06203	PUR1_HUMAN			3	527	-	Glioma(25;0.08)|all_neural(26;0.101)		109			Glutamine amidotransferase type-2.			Missense_Mutation	SNP	ENST00000264220.2	37	c.325G>A	CCDS3505.1	.	.	.	.	.	.	.	.	.	.	C	32	5.163443	0.94727	0.0	1.16E-4	ENSG00000128059	ENST00000264220	T	0.76968	-1.06	5.62	5.62	0.85841	Glutamine amidotransferase, type II (1);Glutamine amidotransferase, class-II (1);	0.000000	0.85682	D	0.000000	T	0.80076	0.4557	L	0.61387	1.9	0.80722	D	1	P	0.46142	0.873	B	0.44315	0.446	T	0.81326	-0.0983	10	0.52906	T	0.07	-22.1314	19.6664	0.95894	0.0:1.0:0.0:0.0	.	109	Q06203	PUR1_HUMAN	I	109	ENSP00000264220:V109I	ENSP00000264220:V109I	V	-	1	0	PPAT	56967495	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.445000	0.80570	2.646000	0.89796	0.585000	0.79938	GTT		0.378	PPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250781.2		NM_002703		22	50	0	0	0	1	0	22	50		
UBA6	55236	broad.mit.edu	37	4	68530981	68530981	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr4:68530981C>T	ENST00000322244.5	-	10	882	c.823G>A	c.(823-825)Gac>Aac	p.D275N	UBA6_ENST00000420827.2_Missense_Mutation_p.D275N	NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	275					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|FAT10 activating enzyme activity (GO:0019780)|ligase activity (GO:0016874)			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						TCTGTGGTGTCACCAATACTA	0.299																																						uc003hdg.3		NaN																	0					0						c.(823-825)GAC>AAC		ubiquitin-activating enzyme E1-like 2							75.0	83.0	80.0					4																	68530981		2203	4296	6499	SO:0001583	missense	55236				protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding	g.chr4:68530981C>T	AK094164	CCDS3516.1	4q13.2	2008-02-05	2007-11-30	2007-11-30	ENSG00000033178	ENSG00000033178		"""Ubiquitin-like modifier activating enzymes"""	25581	protein-coding gene	gene with protein product	"""UBA6, ubiquitin-activating enzyme E1"""	611361	"""ubiquitin-activating enzyme E1-like 2"""	UBE1L2		17580310	Standard	NM_018227		Approved	FLJ10808	uc003hdg.4	A0AVT1	OTTHUMG00000129299	ENST00000322244.5:c.823G>A	4.37:g.68530981C>T	ENSP00000313454:p.Asp275Asn					UBA6_uc003hdi.2_Missense_Mutation_p.D275N|UBA6_uc003hdj.2_Missense_Mutation_p.D275N	p.D275N	NM_018227	NP_060697	A0AVT1	UBA6_HUMAN			10	875	-			275					A6N8M7|B2RAV3|Q4W5K0|Q6UV21|Q86T78|Q86TC7|Q8N5T3|Q8N9E4|Q9H3T7|Q9NVC9	Missense_Mutation	SNP	ENST00000322244.5	37	c.823G>A	CCDS3516.1	.	.	.	.	.	.	.	.	.	.	C	16.63	3.176168	0.57692	.	.	ENSG00000033178	ENST00000322244;ENST00000420827	T;T	0.57752	0.38;0.38	5.53	4.69	0.59074	Molybdenum cofactor biosynthesis, MoeB (1);	0.094438	0.64402	N	0.000001	T	0.50803	0.1637	M	0.71920	2.185	0.53688	D	0.99997	B;B;B	0.30439	0.146;0.279;0.073	B;B;B	0.26517	0.05;0.07;0.023	T	0.54516	-0.8282	10	0.56958	D	0.05	-6.0463	11.9304	0.52843	0.0:0.8549:0.0:0.1451	.	275;275;275	A0AVT1-4;A0AVT1-3;A0AVT1	.;.;UBA6_HUMAN	N	275	ENSP00000313454:D275N;ENSP00000399234:D275N	ENSP00000313454:D275N	D	-	1	0	UBA6	68213576	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.858000	0.48356	1.487000	0.48415	0.585000	0.79938	GAC		0.299	UBA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251429.2		NM_018227		14	44	0	0	0	1	0	14	44		
YTHDC1	91746	broad.mit.edu	37	4	69202901	69202901	+	Missense_Mutation	SNP	C	C	G	rs548927284	byFrequency	TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr4:69202901C>G	ENST00000344157.4	-	4	1062	c.727G>C	c.(727-729)Gag>Cag	p.E243Q	YTHDC1_ENST00000579690.1_Missense_Mutation_p.E243Q|YTHDC1_ENST00000355665.3_Missense_Mutation_p.E243Q	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	243	Glu-rich.				mRNA splice site selection (GO:0006376)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						tcctcctcctcctcctcctct	0.483																																						uc003hdx.2		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(727-729)GAG>CAG		splicing factor YT521-B isoform 1							153.0	107.0	123.0					4																	69202901		2203	4300	6503	SO:0001583	missense	91746							g.chr4:69202901C>G	AK098515	CCDS3522.2, CCDS33992.1	4q13.3	2009-01-14			ENSG00000083896	ENSG00000083896			30626	protein-coding gene	gene with protein product						12368078, 10564280	Standard	XM_005265706		Approved	YT521, KIAA1966, YT521-B	uc003hdx.3	Q96MU7	OTTHUMG00000129306	ENST00000344157.4:c.727G>C	4.37:g.69202901C>G	ENSP00000339245:p.Glu243Gln					YTHDC1_uc003hdy.2_Missense_Mutation_p.E243Q	p.E243Q	NM_001031732	NP_001026902	Q96MU7	YTDC1_HUMAN			4	1080	-			243			Glu-rich.		Q4W5Q3|Q7Z622|Q8TF35	Missense_Mutation	SNP	ENST00000344157.4	37	c.727G>C	CCDS33992.1	.	.	.	.	.	.	.	.	.	.	C	11.47	1.647738	0.29336	.	.	ENSG00000083896	ENST00000344157;ENST00000355665	T;T	0.30714	1.79;1.52	4.66	4.66	0.58398	.	0.480344	0.17669	N	0.166059	T	0.29028	0.0721	N	0.19112	0.55	0.43355	D	0.995429	P;P	0.50710	0.938;0.898	P;B	0.50049	0.629;0.425	T	0.02009	-1.1230	10	0.38643	T	0.18	.	13.7795	0.63075	0.0:1.0:0.0:0.0	.	243;243	Q96MU7-2;Q96MU7	.;YTDC1_HUMAN	Q	243	ENSP00000339245:E243Q;ENSP00000347888:E243Q	ENSP00000339245:E243Q	E	-	1	0	YTHDC1	68885496	0.162000	0.22906	0.337000	0.25536	0.363000	0.29612	1.730000	0.38125	2.531000	0.85337	0.460000	0.39030	GAG		0.483	YTHDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251437.1		NM_133370		7	31	0	0	0	1	0	7	31		
MOB1B	92597	broad.mit.edu	37	4	71824646	71824646	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr4:71824646C>T	ENST00000309395.2	+	2	271	c.70C>T	c.(70-72)Cac>Tac	p.H24Y	MOB1B_ENST00000396051.2_Missense_Mutation_p.H29Y|MOB1B_ENST00000511449.1_3'UTR	NM_001244766.1|NM_173468.3	NP_001231695.1|NP_775739.1	Q7L9L4	MOB1B_HUMAN	MOB kinase activator 1B	24					hippo signaling (GO:0035329)|positive regulation of phosphorylation (GO:0042327)|protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	kinase activator activity (GO:0019209)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)										AGAGGGTTCTCACCAGTATGA	0.413																																						uc003hfw.2		NaN																	0					0						c.(70-72)CAC>TAC		MOB1, Mps One Binder kinase activator-like 1A							98.0	98.0	98.0					4																	71824646		2203	4300	6503	SO:0001583	missense	92597				hippo signaling cascade|protein autophosphorylation	cytoplasm|nucleus	kinase activator activity|kinase binding|metal ion binding	g.chr4:71824646C>T	BC038112	CCDS34002.1, CCDS58903.1	4q13.3	2011-09-28	2011-09-28	2011-09-27	ENSG00000173542	ENSG00000173542		"""MOB kinase activators"""	29801	protein-coding gene	gene with protein product	"""Mob4A protein"""	609282	"""MOB1, Mps One Binder kinase activator-like 1A (yeast)"", ""MOB1 Mps One Binder homolog B (yeast)"""	MOBKL1A		15067004	Standard	NM_173468		Approved	MOB4A	uc003hfw.3	Q7L9L4	OTTHUMG00000160844	ENST00000309395.2:c.70C>T	4.37:g.71824646C>T	ENSP00000310189:p.His24Tyr					MOBKL1A_uc003hfv.1_Missense_Mutation_p.H24Y|MOBKL1A_uc011cba.1_Missense_Mutation_p.H29Y	p.H24Y	NM_173468	NP_775739	Q7L9L4	MOL1A_HUMAN	Lung(101;0.235)		2	260	+		all_hematologic(202;0.21)	24					B2R8U6|B4DRY3|Q8IY23	Missense_Mutation	SNP	ENST00000309395.2	37	c.70C>T	CCDS34002.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.401057	0.83120	.	.	ENSG00000173542	ENST00000502869;ENST00000309395;ENST00000396051	.	.	.	6.0	6.0	0.97389	.	0.000000	0.85682	D	0.000000	T	0.61198	0.2328	L	0.54323	1.7	0.80722	D	1	P;P;P	0.45957	0.869;0.869;0.858	B;B;B	0.43889	0.254;0.254;0.435	T	0.62817	-0.6774	9	0.56958	D	0.05	-23.7966	20.4946	0.99205	0.0:1.0:0.0:0.0	.	29;24;24	B4DRY3;Q7L9L4;B3KSH6	.;MOB1B_HUMAN;.	Y	29;24;29	.	ENSP00000310189:H24Y	H	+	1	0	MOBKL1A	72043510	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.818000	0.86416	2.846000	0.97976	0.650000	0.86243	CAC		0.413	MOB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362634.1		NM_173468		59	24	0	0	0	1	0	59	24		
MOB1B	92597	broad.mit.edu	37	4	71824735	71824735	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr4:71824735C>T	ENST00000309395.2	+	2	360	c.159C>T	c.(157-159)ctC>ctT	p.L53L	MOB1B_ENST00000396051.2_Silent_p.L58L|MOB1B_ENST00000511449.1_3'UTR	NM_001244766.1|NM_173468.3	NP_001231695.1|NP_775739.1	Q7L9L4	MOB1B_HUMAN	MOB kinase activator 1B	53					hippo signaling (GO:0035329)|positive regulation of phosphorylation (GO:0042327)|protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	kinase activator activity (GO:0019209)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)										GGGAAGATCTCAATGAATGGG	0.468																																						uc003hfw.2		NaN																	0					0						c.(157-159)CTC>CTT		MOB1, Mps One Binder kinase activator-like 1A							124.0	119.0	121.0					4																	71824735		2203	4300	6503	SO:0001819	synonymous_variant	92597				hippo signaling cascade|protein autophosphorylation	cytoplasm|nucleus	kinase activator activity|kinase binding|metal ion binding	g.chr4:71824735C>T	BC038112	CCDS34002.1, CCDS58903.1	4q13.3	2011-09-28	2011-09-28	2011-09-27	ENSG00000173542	ENSG00000173542		"""MOB kinase activators"""	29801	protein-coding gene	gene with protein product	"""Mob4A protein"""	609282	"""MOB1, Mps One Binder kinase activator-like 1A (yeast)"", ""MOB1 Mps One Binder homolog B (yeast)"""	MOBKL1A		15067004	Standard	NM_173468		Approved	MOB4A	uc003hfw.3	Q7L9L4	OTTHUMG00000160844	ENST00000309395.2:c.159C>T	4.37:g.71824735C>T						MOBKL1A_uc003hfv.1_Silent_p.L53L|MOBKL1A_uc011cba.1_Silent_p.L58L	p.L53L	NM_173468	NP_775739	Q7L9L4	MOL1A_HUMAN	Lung(101;0.235)		2	349	+		all_hematologic(202;0.21)	53					B2R8U6|B4DRY3|Q8IY23	Silent	SNP	ENST00000309395.2	37	c.159C>T	CCDS34002.1																																																																																				0.468	MOB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362634.1		NM_173468		29	22	0	0	0	1	0	29	22		
SEPT11	55752	broad.mit.edu	37	4	77952017	77952017	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr4:77952017G>T	ENST00000264893.6	+	9	1369	c.1168G>T	c.(1168-1170)Gag>Tag	p.E390*	SEPT11_ENST00000541121.1_Nonsense_Mutation_p.E400*|SEPT11_ENST00000510515.1_Nonsense_Mutation_p.E400*|SEPT11_ENST00000505788.1_Nonsense_Mutation_p.E390*|SEPT11_ENST00000502584.1_Nonsense_Mutation_p.E390*|SEPT11_ENST00000512575.1_3'UTR	NM_018243.2	NP_060713.1	Q9NVA2	SEP11_HUMAN	septin 11	390					cell cycle (GO:0007049)|cell division (GO:0051301)|protein heterooligomerization (GO:0051291)	cell junction (GO:0030054)|cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|septin complex (GO:0031105)|stress fiber (GO:0001725)|synapse (GO:0045202)	GTP binding (GO:0005525)			endometrium(2)|kidney(3)|large_intestine(3)|lung(1)|skin(1)|stomach(1)	11						GGAGCTTGAGGAGGAGGTGAA	0.468																																						uc003hkj.2		NaN																	0					0						c.(1168-1170)GAG>TAG		septin 11							103.0	107.0	105.0					4																	77952017		2203	4300	6503	SO:0001587	stop_gained	55752				cell cycle|cell division|protein heterooligomerization	axon|cell junction|dendritic spine|septin complex|stress fiber|synapse	GTP binding|protein binding	g.chr4:77952017G>T	AK001711	CCDS34018.1	4q21.1	2013-01-21			ENSG00000138758	ENSG00000138758		"""Septins"""	25589	protein-coding gene	gene with protein product		612887				14999297, 15140406	Standard	NM_018243		Approved	FLJ10849	uc003hkj.3	Q9NVA2	OTTHUMG00000160854	ENST00000264893.6:c.1168G>T	4.37:g.77952017G>T	ENSP00000264893:p.Glu390*					SEPT11_uc010ijh.1_Nonsense_Mutation_p.E382*|SEPT11_uc011cca.1_Nonsense_Mutation_p.E400*	p.E390*	NM_018243	NP_060713	Q9NVA2	SEP11_HUMAN			9	1330	+			390			Potential.		B7Z7Z6|E9KL32|Q4W5G1|Q7L4N1|Q96SP1|Q9UFY9	Nonsense_Mutation	SNP	ENST00000264893.6	37	c.1168G>T	CCDS34018.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	39|39	7.535857|7.535857	0.98345|0.98345	.|.	.|.	ENSG00000138758|ENSG00000138758	ENST00000264893;ENST00000502584;ENST00000505788;ENST00000510515;ENST00000541121;ENST00000502401|ENST00000506731	.|.	.|.	.|.	5.93|5.93	5.93|5.93	0.95920|0.95920	.|.	0.000000|.	0.64402|.	D|.	0.000004|.	.|T	.|0.80314	.|0.4600	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.77781	.|-0.2459	.|3	0.46703|.	T|.	0.11|.	.|.	20.3368|20.3368	0.98748|0.98748	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|S	390;390;390;400;400;43|118	.|.	ENSP00000264893:E390X|.	E|R	+|+	1|3	0|2	SEPT11|SEPT11	78171041|78171041	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.476000|9.476000	0.97823|0.97823	2.805000|2.805000	0.96524|0.96524	0.655000|0.655000	0.94253|0.94253	GAG|AGG		0.468	SEPT11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000362676.1		NM_018243		10	37	1	0	7.48243e-07	1	7.82884e-07	10	37		
SCD5	79966	broad.mit.edu	37	4	83552481	83552481	+	Nonstop_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr4:83552481C>G	ENST00000319540.4	-	5	1311	c.992G>C	c.(991-993)tGa>tCa	p.*331S		NM_001037582.2	NP_001032671.2	Q86SK9	SCD5_HUMAN	stearoyl-CoA desaturase 5	0					fatty acid biosynthetic process (GO:0006633)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	iron ion binding (GO:0005506)|stearoyl-CoA 9-desaturase activity (GO:0004768)			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	13		Colorectal(4;0.0323)|Hepatocellular(203;0.115)				GTTCCAAGTTCAAGCACTGCT	0.562																																						uc003hna.2		NaN																	0				ovary(1)	1						c.(991-993)TGA>TCA		stearoyl-CoA desaturase 5 isoform a							75.0	52.0	60.0					4																	83552481		2203	4300	6503	SO:0001578	stop_lost	79966				fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity	g.chr4:83552481C>G	AF389338	CCDS3595.1, CCDS34024.1	4q21.3	2013-01-25	2005-06-09	2005-06-09	ENSG00000145284	ENSG00000145284		"""Fatty acid desaturases"""	21088	protein-coding gene	gene with protein product		608370	"""stearoyl-CoA desaturase 4"""	SCD4		12477932	Standard	NM_024906		Approved	ACOD4, FLJ21032, FADS4, HSCD5	uc003hna.2	Q86SK9	OTTHUMG00000130293	ENST00000319540.4:c.992G>C	4.37:g.83552481C>G							p.*331S	NM_001037582	NP_001032671	Q86SK9	SCD5_HUMAN			5	1312	-		Colorectal(4;0.0323)|Hepatocellular(203;0.115)	331					B2RPG0|Q4W5Q5|Q8NDS0|Q9H7D1	Nonstop_Mutation	SNP	ENST00000319540.4	37	c.992G>C	CCDS34024.1	.	.	.	.	.	.	.	.	.	.	C	11.19	1.565328	0.27915	.	.	ENSG00000145284	ENST00000319540	.	.	.	5.01	5.01	0.66863	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.6644	0.85248	0.0:1.0:0.0:0.0	.	.	.	.	S	331	.	.	X	-	2	2	SCD5	83771505	1.000000	0.71417	0.533000	0.28001	0.052000	0.14988	3.688000	0.54699	2.596000	0.87737	0.563000	0.77884	TGA		0.562	SCD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252635.1		NM_024906		5	17	0	0	0	1	0	5	17		
COPS4	51138	broad.mit.edu	37	4	83984258	83984258	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr4:83984258C>G	ENST00000264389.2	+	7	880	c.745C>G	c.(745-747)Ctt>Gtt	p.L249V	COPS4_ENST00000509093.1_Missense_Mutation_p.L249V|COPS4_ENST00000511653.1_Missense_Mutation_p.L249V|COPS4_ENST00000503682.1_Missense_Mutation_p.L249V	NM_016129.2	NP_057213.2	Q9BT78	CSN4_HUMAN	COP9 signalosome subunit 4	249	PCI.				cullin deneddylation (GO:0010388)|protein deneddylation (GO:0000338)	cell junction (GO:0030054)|COP9 signalosome (GO:0008180)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)				endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(2)	13		Hepatocellular(203;0.114)				GCTAGCTACTCTTTTTAAGGA	0.378																																						uc003hoa.2		NaN																	0				kidney(1)	1						c.(745-747)CTT>GTT		COP9 signalosome subunit 4							89.0	89.0	89.0					4																	83984258		2203	4300	6503	SO:0001583	missense	51138				cullin deneddylation	cytoplasm|signalosome	protein binding	g.chr4:83984258C>G	AF100757	CCDS3600.1, CCDS58909.1	4q21.22	2013-03-14	2013-03-14		ENSG00000138663	ENSG00000138663			16702	protein-coding gene	gene with protein product			"""COP9 (constitutive photomorphogenic, Arabidopsis, homolog) subunit 4"", ""COP9 constitutive photomorphogenic homolog subunit 4 (Arabidopsis)"""			9707402	Standard	NM_016129		Approved	CSN4	uc003hoa.3	Q9BT78	OTTHUMG00000130298	ENST00000264389.2:c.745C>G	4.37:g.83984258C>G	ENSP00000264389:p.Leu249Val					COPS4_uc003hob.2_Missense_Mutation_p.L249V|COPS4_uc010ijw.2_Missense_Mutation_p.L249V|COPS4_uc010ijx.2_Missense_Mutation_p.L249V	p.L249V	NM_016129	NP_057213	Q9BT78	CSN4_HUMAN			7	884	+		Hepatocellular(203;0.114)	249			PCI.		B3KN88|B3KST5|Q561W7|Q9NW31|Q9Y677	Missense_Mutation	SNP	ENST00000264389.2	37	c.745C>G	CCDS3600.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.308147	0.81247	.	.	ENSG00000138663	ENST00000509093;ENST00000264389;ENST00000509317;ENST00000503682;ENST00000511653	T;T;T;T;T	0.59364	0.33;0.63;0.69;0.27;0.58	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.77903	0.4200	M	0.87682	2.9	0.80722	D	1	D;D;D;D	0.89917	1.0;0.998;0.999;1.0	D;D;D;D	0.85130	0.997;0.952;0.991;0.989	T	0.78534	-0.2167	10	0.41790	T	0.15	-10.7435	13.3294	0.60477	0.0:0.928:0.0:0.072	.	249;249;249;249	B3KST5;D6RFN0;D6RAX7;Q9BT78	.;.;.;CSN4_HUMAN	V	249;249;137;249;249	ENSP00000425976:L249V;ENSP00000264389:L249V;ENSP00000425486:L137V;ENSP00000424791:L249V;ENSP00000424655:L249V	ENSP00000264389:L249V	L	+	1	0	COPS4	84203282	0.999000	0.42202	1.000000	0.80357	0.976000	0.68499	3.846000	0.55888	2.753000	0.94483	0.585000	0.79938	CTT		0.378	COPS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252643.1				20	55	0	0	0	1	0	20	55		
PTPN13	5783	broad.mit.edu	37	4	87622564	87622564	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr4:87622564G>C	ENST00000411767.2	+	7	868	c.805G>C	c.(805-807)Gaa>Caa	p.E269Q	PTPN13_ENST00000427191.2_Missense_Mutation_p.E269Q|PTPN13_ENST00000511467.1_Missense_Mutation_p.E269Q|PTPN13_ENST00000316707.6_Missense_Mutation_p.E269Q|PTPN13_ENST00000436978.1_Missense_Mutation_p.E269Q			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	269					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		TGAAGATTCTGAAAATACATT	0.383																																						uc003hpz.2		NaN																	0				ovary(4)|breast(1)|kidney(1)	6						c.(805-807)GAA>CAA		protein tyrosine phosphatase, non-receptor type							48.0	45.0	46.0					4																	87622564		1814	4073	5887	SO:0001583	missense	5783					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein binding|protein tyrosine phosphatase activity	g.chr4:87622564G>C		CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.805G>C	4.37:g.87622564G>C	ENSP00000407249:p.Glu269Gln					PTPN13_uc003hpy.2_Missense_Mutation_p.E269Q|PTPN13_uc003hqa.2_Missense_Mutation_p.E269Q|PTPN13_uc003hqb.2_Missense_Mutation_p.E269Q	p.E269Q	NM_080683	NP_542414	Q12923	PTN13_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00082)	7	1285	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	269					B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Missense_Mutation	SNP	ENST00000411767.2	37	c.805G>C	CCDS47094.1	.	.	.	.	.	.	.	.	.	.	G	14.53	2.561963	0.45590	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000316707;ENST00000411767;ENST00000511467;ENST00000357349	T;T;T;T;T	0.32272	1.46;1.46;1.46;1.46;1.46	5.89	5.04	0.67666	.	0.367377	0.21257	N	0.077530	T	0.41834	0.1176	L	0.56769	1.78	0.35562	D	0.804795	D;D;P;D	0.59357	0.962;0.973;0.856;0.985	P;P;B;P	0.56916	0.705;0.809;0.424;0.735	T	0.50021	-0.8876	10	0.22706	T	0.39	.	10.0806	0.42388	0.0746:0.1404:0.785:0.0	.	269;269;269;269	Q12923-2;Q12923-3;Q12923;Q12923-4	.;.;PTN13_HUMAN;.	Q	269;269;269;269;269;237	ENSP00000408368:E269Q;ENSP00000394794:E269Q;ENSP00000322675:E269Q;ENSP00000407249:E269Q;ENSP00000426626:E269Q	ENSP00000322675:E269Q	E	+	1	0	PTPN13	87841588	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	5.258000	0.65479	1.473000	0.48159	0.557000	0.71058	GAA		0.383	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1				9	23	0	0	0	1	0	9	23		
SLC10A6	345274	broad.mit.edu	37	4	87749251	87749251	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr4:87749251G>C	ENST00000273905.6	-	4	803	c.656C>G	c.(655-657)tCt>tGt	p.S219C	SLC10A6_ENST00000505535.1_Intron	NM_197965.2	NP_932069.1	Q3KNW5	SOAT_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 6	219					sodium-dependent organic anion transport (GO:0043251)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid:sodium symporter activity (GO:0008508)|sodium-dependent organic anion transmembrane transporter activity (GO:0043250)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		TGAATTCCAAGATCCTTTCGC	0.478																																						uc003hqd.2		NaN																	0					0						c.(655-657)TCT>TGT		sodium-dependent organic anion transporter							89.0	83.0	85.0					4																	87749251		2203	4300	6503	SO:0001583	missense	345274					integral to membrane|plasma membrane	bile acid:sodium symporter activity	g.chr4:87749251G>C	AJ583502	CCDS3614.1	4q22.1	2013-07-18	2013-07-18		ENSG00000145283	ENSG00000145283		"""Solute carriers"""	30603	protein-coding gene	gene with protein product		613366				15020217, 17491011	Standard	NM_197965		Approved	SOAT	uc003hqd.2	Q3KNW5	OTTHUMG00000130596	ENST00000273905.6:c.656C>G	4.37:g.87749251G>C	ENSP00000273905:p.Ser219Cys						p.S219C	NM_197965	NP_932069	Q3KNW5	SOAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00099)	4	804	-		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)	219			Extracellular (Potential).		Q70EX7	Missense_Mutation	SNP	ENST00000273905.6	37	c.656C>G	CCDS3614.1	.	.	.	.	.	.	.	.	.	.	G	10.30	1.313114	0.23908	.	.	ENSG00000145283	ENST00000273905	T	0.08282	3.11	4.91	0.395	0.16304	.	0.914159	0.09197	N	0.835209	T	0.12475	0.0303	L	0.39898	1.24	0.09310	N	1	D	0.60160	0.987	P	0.55999	0.789	T	0.24835	-1.0149	10	0.46703	T	0.11	-0.1169	4.5184	0.11947	0.3175:0.0:0.5353:0.1473	.	219	Q3KNW5	SOAT_HUMAN	C	219	ENSP00000273905:S219C	ENSP00000273905:S219C	S	-	2	0	SLC10A6	87968275	0.628000	0.27138	0.001000	0.08648	0.025000	0.11179	0.972000	0.29409	-0.153000	0.11137	-0.140000	0.14226	TCT		0.478	SLC10A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253043.2		NM_197965		7	40	0	0	0	1	0	7	40		
HERC6	55008	broad.mit.edu	37	4	89363544	89363544	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr4:89363544G>C	ENST00000264346.7	+	23	3060	c.3001G>C	c.(3001-3003)Gag>Cag	p.E1001Q	HERC6_ENST00000380265.5_Missense_Mutation_p.E965Q	NM_017912.3	NP_060382.3	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	1001	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				hematopoietic progenitor cell differentiation (GO:0002244)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.E1001K(1)|p.M1000I(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		GGAAAGAATGGAGGAAGCACT	0.428																																						uc011cdi.1		NaN																	2	Substitution - Missense(2)		lung(2)	lung(3)|ovary(1)|kidney(1)	5						c.(3001-3003)GAG>CAG		hect domain and RLD 6 isoform 1							78.0	78.0	78.0					4																	89363544		2045	4237	6282	SO:0001583	missense	55008				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	ubiquitin-protein ligase activity	g.chr4:89363544G>C	AF336798	CCDS47098.1, CCDS54777.1	4q22	2012-02-23	2012-02-23		ENSG00000138642	ENSG00000138642			26072	protein-coding gene	gene with protein product		609249	"""hect domain and RLD 6"""				Standard	NM_001165136		Approved	FLJ20637	uc011cdi.2	Q8IVU3	OTTHUMG00000160983	ENST00000264346.7:c.3001G>C	4.37:g.89363544G>C	ENSP00000264346:p.Glu1001Gln					HERC6_uc011cdj.1_Missense_Mutation_p.E965Q|HERC6_uc011cdk.1_RNA|HERC6_uc011cdl.1_RNA	p.E1001Q	NM_017912	NP_060382	Q8IVU3	HERC6_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000222)	23	3184	+		Hepatocellular(203;0.114)	1001			HECT.		B4DIY5|Q5GC90|Q5GRH3|Q5HYM6|Q5JPB6|Q6PIF4|Q8NAN3|Q9NWS4	Missense_Mutation	SNP	ENST00000264346.7	37	c.3001G>C	CCDS47098.1	.	.	.	.	.	.	.	.	.	.	G	13.58	2.279012	0.40294	.	.	ENSG00000138642	ENST00000380265;ENST00000264346	T;T	0.58358	0.34;0.34	4.69	0.326	0.15908	HECT (4);	0.365001	0.23524	N	0.047250	T	0.47135	0.1429	L	0.42581	1.335	0.80722	D	1	P;P	0.47484	0.873;0.896	B;P	0.48270	0.436;0.572	T	0.35599	-0.9782	10	0.48119	T	0.1	.	8.8639	0.35274	0.6245:0.0:0.3755:0.0	.	965;1001	Q8IVU3-2;Q8IVU3	.;HERC6_HUMAN	Q	965;1001	ENSP00000369617:E965Q;ENSP00000264346:E1001Q	ENSP00000264346:E1001Q	E	+	1	0	HERC6	89582567	0.967000	0.33354	0.854000	0.33618	0.991000	0.79684	0.007000	0.13174	-0.079000	0.12707	0.591000	0.81541	GAG		0.428	HERC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363259.2				4	18	0	0	0	1	0	4	18		
FAM13A	10144	broad.mit.edu	37	4	89912254	89912254	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr4:89912254C>G	ENST00000264344.5	-	4	682	c.475G>C	c.(475-477)Gag>Cag	p.E159Q	FAM13A_ENST00000502459.1_5'UTR|FAM13A_ENST00000515600.1_Missense_Mutation_p.E159Q|FAM13A_ENST00000509094.1_Missense_Mutation_p.E159Q|FAM13A_ENST00000511976.1_Intron	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	159	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						TCTGGCAGCTCTTTTATTAAG	0.383																																						uc003hse.1		NaN																	0				ovary(1)|liver(1)	2						c.(475-477)GAG>CAG		family with sequence similarity 13, member A1							91.0	92.0	92.0					4																	89912254		2203	4300	6503	SO:0001583	missense	10144				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr4:89912254C>G	AB020721	CCDS34029.1, CCDS43251.1, CCDS58911.1, CCDS58912.1, CCDS58913.1	4q22.1	2011-09-07	2009-01-20	2009-01-20	ENSG00000138640	ENSG00000138640		"""Rho GTPase activating proteins"""	19367	protein-coding gene	gene with protein product		613299	"""family with sequence similarity 13, member A1"""	FAM13A1			Standard	NM_014883		Approved	KIAA0914, ARHGAP48	uc003hse.2	O94988	OTTHUMG00000161006	ENST00000264344.5:c.475G>C	4.37:g.89912254C>G	ENSP00000264344:p.Glu159Gln					FAM13A_uc003hsf.1_Intron|FAM13A_uc003hsh.1_5'UTR|FAM13A_uc003hsi.2_Missense_Mutation_p.E159Q|FAM13A_uc003hsj.2_Missense_Mutation_p.E159Q	p.E159Q	NM_014883	NP_055698	O94988	FA13A_HUMAN			4	683	-			159			Rho-GAP.		B4DLC1|Q24JP0|Q5PR21|Q8NBA3	Missense_Mutation	SNP	ENST00000264344.5	37	c.475G>C	CCDS34029.1	.	.	.	.	.	.	.	.	.	.	C	2.870	-0.234174	0.05983	.	.	ENSG00000138640	ENST00000264344;ENST00000509094;ENST00000515600	T;T;T	0.18502	2.21;2.21;2.21	4.57	4.57	0.56435	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.257229	0.31909	N	0.006866	T	0.09468	0.0233	N	0.05467	-0.045	0.29868	N	0.827071	B;B	0.24426	0.003;0.103	B;B	0.27796	0.017;0.083	T	0.13019	-1.0525	9	.	.	.	.	13.857	0.63534	0.0:0.734:0.266:0.0	.	159;159	Q6P521;O94988	.;FA13A_HUMAN	Q	159	ENSP00000264344:E159Q;ENSP00000426517:E159Q;ENSP00000422345:E159Q	.	E	-	1	0	FAM13A	90131277	0.994000	0.37717	0.840000	0.33206	0.993000	0.82548	2.971000	0.49248	2.826000	0.97356	0.655000	0.94253	GAG		0.383	FAM13A-022	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363371.1				6	20	0	0	0	1	0	6	20		
TBCK	93627	broad.mit.edu	37	4	107170104	107170104	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr4:107170104C>T	ENST00000273980.5	-	9	1141	c.694G>A	c.(694-696)Gag>Aag	p.E232K	TBCK_ENST00000394708.2_Missense_Mutation_p.E232K|TBCK_ENST00000432496.2_Missense_Mutation_p.E232K|TBCK_ENST00000361687.4_Missense_Mutation_p.E169K|TBCK_ENST00000394706.3_Missense_Mutation_p.E193K					TBC1 domain containing kinase											NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						CAACCATGCTCTTCAGCCAGA	0.313																																						uc010ilv.2		NaN																	0				large_intestine(2)|upper_aerodigestive_tract(1)|stomach(1)|ovary(1)	5						c.(694-696)GAG>AAG		TBC domain-containing protein kinase-like							83.0	82.0	82.0					4																	107170104		2202	4298	6500	SO:0001583	missense	93627					intracellular	Rab GTPase activator activity	g.chr4:107170104C>T		CCDS3673.1, CCDS54788.1, CCDS54789.1	4q24	2014-09-17			ENSG00000145348	ENSG00000145348			28261	protein-coding gene	gene with protein product						12471243	Standard	XR_427553		Approved	MGC16169, HSPC302	uc010ilv.2	Q8TEA7	OTTHUMG00000131214	ENST00000273980.5:c.694G>A	4.37:g.107170104C>T	ENSP00000273980:p.Glu232Lys					TBCK_uc003hyb.2_5'Flank|TBCK_uc003hye.2_Missense_Mutation_p.E193K|TBCK_uc003hyc.2_Missense_Mutation_p.E169K|TBCK_uc003hyd.2_Missense_Mutation_p.E60K|TBCK_uc003hyf.2_Missense_Mutation_p.E232K	p.E232K	NM_001163435	NP_001156907	Q8TEA7	TBCK_HUMAN			8	1059	-			232			Protein kinase.			Missense_Mutation	SNP	ENST00000273980.5	37	c.694G>A	CCDS54788.1	.	.	.	.	.	.	.	.	.	.	C	35	5.483747	0.96307	.	.	ENSG00000145348	ENST00000273980;ENST00000432496;ENST00000361687;ENST00000394706;ENST00000394708	T;T;T;T;T	0.08546	3.08;3.08;3.08;3.08;3.08	5.45	5.45	0.79879	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.21550	0.0519	L	0.41824	1.3	0.80722	D	1	P;D;D	0.76494	0.793;0.999;0.995	P;D;D	0.69142	0.74;0.962;0.962	T	0.00553	-1.1674	10	0.34782	T	0.22	.	19.2746	0.94026	0.0:1.0:0.0:0.0	.	232;193;169	Q8TEA7;Q8TEA7-2;Q8TEA7-3	TBCK_HUMAN;.;.	K	232;232;169;193;232	ENSP00000273980:E232K;ENSP00000405847:E232K;ENSP00000355338:E169K;ENSP00000378196:E193K;ENSP00000378198:E232K	ENSP00000273980:E232K	E	-	1	0	TBCK	107389553	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.216000	0.77974	2.547000	0.85894	0.650000	0.86243	GAG		0.313	TBCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253953.4		NM_033115		18	15	0	0	0	1	0	18	15		
SEC24B	10427	broad.mit.edu	37	4	110384480	110384480	+	Nonsense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr4:110384480C>G	ENST00000265175.5	+	2	612	c.557C>G	c.(556-558)tCa>tGa	p.S186*	SEC24B_ENST00000504968.2_Nonsense_Mutation_p.S217*|SEC24B_ENST00000399100.2_Nonsense_Mutation_p.S186*	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	186					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)|aorta morphogenesis (GO:0035909)|auditory receptor cell stereocilium organization (GO:0060088)|cellular protein metabolic process (GO:0044267)|cochlear nucleus development (GO:0021747)|COPII vesicle coating (GO:0048208)|coronary artery morphogenesis (GO:0060982)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|lung lobe morphogenesis (GO:0060463)|membrane organization (GO:0061024)|neural tube closure (GO:0001843)|outflow tract morphogenesis (GO:0003151)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|pulmonary artery morphogenesis (GO:0061156)|regulation of cargo loading into COPII-coated vesicle (GO:1901301)|regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	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)|membrane (GO:0016020)	transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		TATGCTATGTCAACTGTTTCT	0.453																																						uc003hzk.2		NaN																	0				ovary(2)|large_intestine(1)	3						c.(556-558)TCA>TGA		SEC24 (S. cerevisiae) homolog B isoform a							322.0	300.0	307.0					4																	110384480		2024	4191	6215	SO:0001587	stop_gained	10427				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	protein binding|transporter activity|zinc ion binding	g.chr4:110384480C>G	AJ131245	CCDS43260.1, CCDS47124.1, CCDS75179.1	4q25	2013-10-21	2013-10-21		ENSG00000138802	ENSG00000138802			10704	protein-coding gene	gene with protein product		607184	"""SEC24 (S. cerevisiae) related gene family, member B"", ""SEC24 family, member B (S. cerevisiae)"""			10075675, 10329445	Standard	XM_005262688		Approved		uc003hzk.3	O95487	OTTHUMG00000161372	ENST00000265175.5:c.557C>G	4.37:g.110384480C>G	ENSP00000265175:p.Ser186*					SEC24B_uc003hzl.2_Nonsense_Mutation_p.S186*|SEC24B_uc011cfp.1_Nonsense_Mutation_p.S217*|SEC24B_uc011cfq.1_Nonsense_Mutation_p.S186*|SEC24B_uc011cfr.1_Nonsense_Mutation_p.S186*	p.S186*	NM_006323	NP_006314	O95487	SC24B_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)	2	612	+		Hepatocellular(203;0.217)	186					B7ZKM8|B7ZKN4|Q0VG08	Nonsense_Mutation	SNP	ENST00000265175.5	37	c.557C>G	CCDS47124.1	.	.	.	.	.	.	.	.	.	.	C	36	5.810833	0.96975	.	.	ENSG00000138802	ENST00000504968;ENST00000399100;ENST00000265175	.	.	.	4.88	4.88	0.63580	.	0.261361	0.26638	N	0.023274	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-5.2681	16.4126	0.83723	0.0:1.0:0.0:0.0	.	.	.	.	X	217;186;186	.	ENSP00000265175:S186X	S	+	2	0	SEC24B	110603929	0.982000	0.34865	0.417000	0.26559	0.952000	0.60782	3.214000	0.51161	2.545000	0.85829	0.467000	0.42956	TCA		0.453	SEC24B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364693.2				44	144	0	0	0	1	0	44	144		
PRDM5	11107	broad.mit.edu	37	4	121828712	121828712	+	Splice_Site	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr4:121828712C>A	ENST00000264808.3	-	2	334	c.94G>T	c.(94-96)Ggt>Tgt	p.G32C	PRDM5_ENST00000428209.2_Splice_Site_p.G32C|PRDM5_ENST00000515109.1_Splice_Site_p.G32C|PRDM5_ENST00000394435.2_Splice_Site_p.G32C	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	32	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|mitotic cell cycle (GO:0000278)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						AACTTTTCACCCTGAGTAGCA	0.358																																						uc003idn.2		NaN																	0				central_nervous_system(1)|pancreas(1)	2						c.(94-96)GGT>TGT		PR domain containing 5							117.0	115.0	116.0					4																	121828712		2203	4300	6503	SO:0001630	splice_region_variant	11107				histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr4:121828712C>A	AF272897	CCDS3716.1, CCDS75187.1, CCDS75188.1	4q25-q26	2013-01-08			ENSG00000138738	ENSG00000138738		"""Zinc fingers, C2H2-type"""	9349	protein-coding gene	gene with protein product		614161					Standard	XM_005262706		Approved	PFM2	uc003idn.3	Q9NQX1	OTTHUMG00000132970	ENST00000264808.3:c.94-1G>T	4.37:g.121828712C>A						PRDM5_uc003ido.2_Missense_Mutation_p.G32C|PRDM5_uc010ine.2_Missense_Mutation_p.G32C|PRDM5_uc010inf.2_Missense_Mutation_p.G32C|PRDM5_uc003idp.1_Missense_Mutation_p.G32C	p.G32C	NM_018699	NP_061169	Q9NQX1	PRDM5_HUMAN			2	344	-			32			SET.		Q0VAI9|Q0VAJ0|Q6NXQ7	Missense_Mutation	SNP	ENST00000264808.3	37	c.94G>T	CCDS3716.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.330918	0.81690	.	.	ENSG00000138738	ENST00000264808;ENST00000515109;ENST00000428209;ENST00000394435	D;D;D;D	0.82893	-1.66;-1.66;-1.66;-1.66	5.81	5.81	0.92471	SET domain (2);	0.000000	0.85682	D	0.000000	D	0.92828	0.7719	M	0.88570	2.965	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.93517	0.6858	10	0.87932	D	0	-14.7691	18.8497	0.92222	0.0:1.0:0.0:0.0	.	32;32;32;32	Q0VAI9;Q9NQX1-3;Q9NQX1-2;Q9NQX1	.;.;.;PRDM5_HUMAN	C	32	ENSP00000264808:G32C;ENSP00000422309:G32C;ENSP00000404832:G32C;ENSP00000377955:G32C	ENSP00000264808:G32C	G	-	1	0	PRDM5	122048162	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.734000	0.68580	2.746000	0.94184	0.655000	0.94253	GGT		0.358	PRDM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256528.2			Missense_Mutation	20	26	1	0	5.35267e-07	1	5.62362e-07	20	26		
KIAA1109	84162	broad.mit.edu	37	4	123274148	123274148	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr4:123274148G>C	ENST00000264501.4	+	81	14312	c.13939G>C	c.(13939-13941)Gaa>Caa	p.E4647Q	KIAA1109_ENST00000388738.3_Missense_Mutation_p.E4647Q			Q2LD37	K1109_HUMAN	KIAA1109	4647					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TCCATTACCAGAAGATGGAAT	0.413																																						uc003ieh.2		NaN																	0				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.(13939-13941)GAA>CAA		fragile site-associated protein							145.0	137.0	140.0					4																	123274148		1944	4145	6089	SO:0001583	missense	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123274148G>C	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.13939G>C	4.37:g.123274148G>C	ENSP00000264501:p.Glu4647Gln					KIAA1109_uc003iem.2_Missense_Mutation_p.E1003Q	p.E4647Q	NM_015312	NP_056127	Q2LD37	K1109_HUMAN			79	13984	+			4647					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	c.13939G>C	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.93|19.93	3.917533|3.917533	0.73098|0.73098	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000438707;ENST00000431755|ENST00000306802	T;T;T|.	0.45668|.	0.89;0.89;0.89|.	5.86|5.86	5.86|5.86	0.93980|0.93980	Fragile site-associated protein, C-terminal (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.65575|0.65575	0.2704|0.2704	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	D;D|.	0.71674|.	0.994;0.998|.	P;D|.	0.69307|.	0.873;0.963|.	T|T	0.58679|0.58679	-0.7594|-0.7594	10|5	0.26408|.	T|.	0.33|.	.|.	20.1996|20.1996	0.98256|0.98256	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	4646;4647|.	Q2LD37-4;Q2LD37|.	.;K1109_HUMAN|.	Q|H	4647;4647;1316;248|1022	ENSP00000264501:E4647Q;ENSP00000373390:E4647Q;ENSP00000410874:E1316Q|.	ENSP00000264501:E4647Q|.	E|Q	+|+	1|3	0|2	KIAA1109|KIAA1109	123493598|123493598	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.990000|0.990000	0.78478|0.78478	9.869000|9.869000	0.99810|0.99810	2.776000|2.776000	0.95493|0.95493	0.650000|0.650000	0.86243|0.86243	GAA|CAG		0.413	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1		NM_020797		20	33	0	0	0	1	0	20	33		
SLC25A31	83447	broad.mit.edu	37	4	128665848	128665848	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr4:128665848G>T	ENST00000281154.4	+	2	422	c.254G>T	c.(253-255)gGc>gTc	p.G85V		NM_031291.2	NP_112581.1	Q9H0C2	ADT4_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31	85					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|motile cilium (GO:0031514)|nucleus (GO:0005634)	transporter activity (GO:0005215)			NS(1)|breast(1)|large_intestine(10)|lung(8)|skin(2)	22						TTTTGGCGTGGCAATTTGGCA	0.318																																						uc003ifl.2		NaN																	0					0						c.(253-255)GGC>GTC		solute carrier family 25 (mitochondrial carrier;							134.0	136.0	136.0					4																	128665848		2202	4299	6501	SO:0001583	missense	83447				transmembrane transport	cilium|flagellum|integral to membrane|mitochondrial inner membrane	binding|transporter activity	g.chr4:128665848G>T	AL136857	CCDS3733.1	4q28	2013-05-22			ENSG00000151475	ENSG00000151475		"""Solute carriers"""	25319	protein-coding gene	gene with protein product		610796				15670820	Standard	NM_031291		Approved	DKFZP434N1235, ANT4	uc003ifl.3	Q9H0C2	OTTHUMG00000133300	ENST00000281154.4:c.254G>T	4.37:g.128665848G>T	ENSP00000281154:p.Gly85Val						p.G85V	NM_031291	NP_112581	Q9H0C2	ADT4_HUMAN			2	400	+			85			Solcar 1.			Missense_Mutation	SNP	ENST00000281154.4	37	c.254G>T	CCDS3733.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.553265	0.86127	.	.	ENSG00000151475	ENST00000281154	D	0.98178	-4.77	6.02	6.02	0.97574	Mitochondrial carrier domain (2);	0.108314	0.41823	D	0.000803	D	0.99651	0.9871	H	0.99988	5.285	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97012	0.9737	10	0.87932	D	0	-27.9431	19.3087	0.94175	0.0:0.0:1.0:0.0	.	85	Q9H0C2	ADT4_HUMAN	V	85	ENSP00000281154:G85V	ENSP00000281154:G85V	G	+	2	0	SLC25A31	128885298	1.000000	0.71417	1.000000	0.80357	0.744000	0.42396	6.903000	0.75703	2.857000	0.98124	0.650000	0.86243	GGC		0.318	SLC25A31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257094.2		NM_031291		17	67	1	0	2.23348e-06	1	2.32731e-06	17	67		
RNF150	57484	broad.mit.edu	37	4	141832307	141832307	+	Missense_Mutation	SNP	T	T	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr4:141832307T>G	ENST00000515673.2	-	6	1222	c.1189A>C	c.(1189-1191)Act>Cct	p.T397P	RNF150_ENST00000379512.2_Missense_Mutation_p.T256P|RNF150_ENST00000306799.3_Missense_Mutation_p.T355P|RNF150_ENST00000420921.2_Missense_Mutation_p.T256P|RNF150_ENST00000507500.1_Missense_Mutation_p.T397P			Q9ULK6	RN150_HUMAN	ring finger protein 150	397						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(1)|large_intestine(10)|lung(7)|ovary(1)	19	all_hematologic(180;0.162)					CTGTTAGTAGTAAAGATGACG	0.463																																						uc003iio.1		NaN																	0				ovary(1)	1						c.(1189-1191)ACT>CCT		ring finger protein 150 precursor							71.0	77.0	75.0					4																	141832307		2203	4300	6503	SO:0001583	missense	57484					integral to membrane	zinc ion binding	g.chr4:141832307T>G	AB033040	CCDS34065.1	4q31.1	2013-01-09			ENSG00000170153	ENSG00000170153		"""RING-type (C3HC4) zinc fingers"""	23138	protein-coding gene	gene with protein product						10574462	Standard	XM_005263150		Approved	KIAA1214	uc003iio.1	Q9ULK6	OTTHUMG00000161380	ENST00000515673.2:c.1189A>C	4.37:g.141832307T>G	ENSP00000425840:p.Thr397Pro					RNF150_uc010iok.1_Missense_Mutation_p.T355P|RNF150_uc003iip.1_Missense_Mutation_p.T397P	p.T397P	NM_020724	NP_065775	Q9ULK6	RN150_HUMAN			6	1843	-	all_hematologic(180;0.162)		397			Cytoplasmic (Potential).		Q3T1D0|Q6ZNW6	Missense_Mutation	SNP	ENST00000515673.2	37	c.1189A>C	CCDS34065.1	.	.	.	.	.	.	.	.	.	.	T	16.08	3.021481	0.54576	.	.	ENSG00000170153	ENST00000379512;ENST00000420921;ENST00000306799;ENST00000515673;ENST00000507500;ENST00000506101	T;T;T;T;T;T	0.15718	2.4;2.4;2.42;3.42;3.38;2.45	5.21	3.99	0.46301	.	0.518652	0.18756	N	0.132037	T	0.13329	0.0323	L	0.29908	0.895	0.41246	D	0.986672	P;P;B	0.43885	0.514;0.82;0.38	B;B;B	0.40506	0.206;0.331;0.102	T	0.05683	-1.0870	10	0.33940	T	0.23	.	11.0309	0.47772	0.1521:0.0:0.0:0.8478	.	355;397;397	Q9ULK6-2;Q9ULK6-3;Q9ULK6	.;.;RN150_HUMAN	P	256;256;355;397;397;228	ENSP00000368827:T256P;ENSP00000394581:T256P;ENSP00000304321:T355P;ENSP00000425840:T397P;ENSP00000425568:T397P;ENSP00000425947:T228P	ENSP00000304321:T355P	T	-	1	0	RNF150	142051757	1.000000	0.71417	0.500000	0.27589	0.961000	0.63080	2.200000	0.42724	0.766000	0.33244	0.533000	0.62120	ACT		0.463	RNF150-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364739.2		XM_291090		5	33	0	0	0	1	0	5	33		
MORF4	10934	broad.mit.edu	37	4	174537200	174537200	+	IGR	SNP	A	A	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr4:174537200A>G								RP11-475B2.1 (21493 upstream) : RP11-161D15.2 (280344 downstream)																							TAATTGAGTAATAAAGCAAGG	0.428																																						uc011cke.1		NaN																	0					0						c.(595-597)TTA>CTA		mortality factor 4							110.0	100.0	103.0					4																	174537200		2203	4300	6503	SO:0001628	intergenic_variant	10934							g.chr4:174537200A>G																													4.37:g.174537200A>G							p.L199L	NM_006792	NP_006783				all cancers(43;1.88e-18)|Epithelial(43;1.19e-16)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)	1	595	-		Prostate(90;0.00201)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0765)|all_hematologic(60;0.107)							Silent	SNP		37	c.595T>C																																																																																				0	0.428										22	30	0	0	0	1	0	22	30		
CTNND2	1501	broad.mit.edu	37	5	11411762	11411762	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr5:11411762C>A	ENST00000304623.8	-	5	514	c.325G>T	c.(325-327)Ggt>Tgt	p.G109C	CTNND2_ENST00000458100.2_5'UTR|CTNND2_ENST00000503622.1_Missense_Mutation_p.G18C|CTNND2_ENST00000359640.2_Missense_Mutation_p.G109C|CTNND2_ENST00000511377.1_Missense_Mutation_p.G18C	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	109					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TCTTTTTGACCATCTGAAATG	0.338																																						uc003jfa.1		NaN																	0				large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						c.(325-327)GGT>TGT		catenin (cadherin-associated protein), delta 2							75.0	71.0	72.0					5																	11411762		2203	4300	6503	SO:0001583	missense	1501				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	g.chr5:11411762C>A	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.325G>T	5.37:g.11411762C>A	ENSP00000307134:p.Gly109Cys					CTNND2_uc010itt.2_Missense_Mutation_p.G18C|CTNND2_uc011cmy.1_Missense_Mutation_p.G18C|CTNND2_uc011cmz.1_5'UTR|CTNND2_uc010itu.1_RNA	p.G109C	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN			5	470	-			109					B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	ENST00000304623.8	37	c.325G>T	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.660557	0.88154	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000503622;ENST00000502551;ENST00000513598;ENST00000508761	T;T;T;D	0.91686	-1.12;-1.18;-1.14;-2.89	5.86	5.86	0.93980	Armadillo-like helical (1);	0.063063	0.64402	D	0.000007	D	0.95101	0.8413	L	0.51422	1.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	D	0.94346	0.7575	10	0.49607	T	0.09	-12.1045	20.1951	0.98241	0.0:1.0:0.0:0.0	.	18;109	B4DRK2;Q9UQB3	.;CTND2_HUMAN	C	109;109;18;18;95;18;95	ENSP00000307134:G109C;ENSP00000352661:G109C;ENSP00000426510:G18C;ENSP00000426887:G18C	ENSP00000307134:G109C	G	-	1	0	CTNND2	11464762	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.431000	0.80335	2.780000	0.95670	0.585000	0.79938	GGT		0.338	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1		NM_001332		42	27	1	0	9.62906e-15	1	1.05753e-14	42	27		
MYO10	4651	broad.mit.edu	37	5	16769282	16769282	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr5:16769282C>G	ENST00000513610.1	-	10	1415	c.961G>C	c.(961-963)Gag>Cag	p.E321Q		NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	321	Myosin motor.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						CGAACTTCCTCCTTGCTGAAC	0.418																																						uc003jft.3		NaN																	0				ovary(2)|pancreas(1)	3						c.(961-963)GAG>CAG		myosin X							105.0	96.0	99.0					5																	16769282		1917	4132	6049	SO:0001583	missense	4651				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity	g.chr5:16769282C>G	AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"""Myosins / Myosin superfamily : Class X"", ""Pleckstrin homology (PH) domain containing"""	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.961G>C	5.37:g.16769282C>G	ENSP00000421280:p.Glu321Gln					MYO10_uc010itx.2_5'Flank	p.E321Q	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN			10	1429	-			321			Myosin head-like.		A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Missense_Mutation	SNP	ENST00000513610.1	37	c.961G>C	CCDS54834.1	.	.	.	.	.	.	.	.	.	.	C	16.64	3.179445	0.57800	.	.	ENSG00000145555	ENST00000513610;ENST00000513882	T;T	0.73469	-0.75;-0.75	5.71	5.71	0.89125	Myosin head, motor domain (2);	.	.	.	.	T	0.79305	0.4423	M	0.73430	2.235	0.80722	D	1	B	0.29716	0.255	B	0.37239	0.244	T	0.76088	-0.3087	9	0.38643	T	0.18	.	19.8557	0.96758	0.0:1.0:0.0:0.0	.	321	Q9HD67	MYO10_HUMAN	Q	321;332	ENSP00000421280:E321Q;ENSP00000421309:E332Q	ENSP00000421280:E321Q	E	-	1	0	MYO10	16822282	1.000000	0.71417	0.998000	0.56505	0.711000	0.40976	7.673000	0.83973	2.694000	0.91930	0.585000	0.79938	GAG		0.418	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1		NM_012334		7	34	0	0	0	1	0	7	34		
CDH6	1004	broad.mit.edu	37	5	31317550	31317550	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr5:31317550G>C	ENST00000265071.2	+	10	1846	c.1581G>C	c.(1579-1581)ttG>ttC	p.L527F	CDH6_ENST00000514738.1_Missense_Mutation_p.L472F	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	527	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CGTTTTCCTTGGCCCCTGAAG	0.413																																						uc003jhe.1		NaN																	0				ovary(4)|skin(2)|large_intestine(1)	7						c.(1579-1581)TTG>TTC		cadherin 6, type 2 preproprotein							90.0	88.0	89.0					5																	31317550		2203	4300	6503	SO:0001583	missense	1004				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	g.chr5:31317550G>C	D31784	CCDS3894.1	5p13.3	2010-01-26			ENSG00000113361	ENSG00000113361		"""Cadherins / Major cadherins"""	1765	protein-coding gene	gene with protein product	"""K-Cadherin"""	603007				7743525, 10191097	Standard	NM_004932		Approved		uc003jhe.2	P55285	OTTHUMG00000090673	ENST00000265071.2:c.1581G>C	5.37:g.31317550G>C	ENSP00000265071:p.Leu527Phe					CDH6_uc003jhd.1_Missense_Mutation_p.L527F	p.L527F	NM_004932	NP_004923	P55285	CADH6_HUMAN			10	1907	+			527			Extracellular (Potential).|Cadherin 5.		A8K5H5|Q9BWS0	Missense_Mutation	SNP	ENST00000265071.2	37	c.1581G>C	CCDS3894.1	.	.	.	.	.	.	.	.	.	.	G	16.24	3.066112	0.55539	.	.	ENSG00000113361	ENST00000514738;ENST00000265071	T;T	0.55930	0.49;0.49	4.75	4.75	0.60458	Cadherin (4);Cadherin-like (1);	0.159473	0.43416	D	0.000568	T	0.70579	0.3240	M	0.90542	3.125	0.45594	D	0.998536	P;D	0.56287	0.872;0.975	P;P	0.58520	0.493;0.84	T	0.75551	-0.3278	10	0.72032	D	0.01	.	8.7184	0.34425	0.1723:0.0:0.8277:0.0	.	527;527	P55285;P55285-2	CADH6_HUMAN;.	F	472;527	ENSP00000424843:L472F;ENSP00000265071:L527F	ENSP00000265071:L527F	L	+	3	2	CDH6	31353307	1.000000	0.71417	1.000000	0.80357	0.793000	0.44817	2.859000	0.48364	2.621000	0.88768	0.650000	0.86243	TTG		0.413	CDH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207355.2		NM_004932		29	114	0	0	0	1	0	29	114		
PDZD2	23037	broad.mit.edu	37	5	32074700	32074700	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr5:32074700C>T	ENST00000438447.1	+	18	3876	c.3488C>T	c.(3487-3489)tCt>tTt	p.S1163F	PDZD2_ENST00000282493.3_Missense_Mutation_p.S1163F			O15018	PDZD2_HUMAN	PDZ domain containing 2	1163					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CAGGCCACTTCTGTCAAAGTG	0.522																																						uc003jhl.2		NaN																	0				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						c.(3487-3489)TCT>TTT		PDZ domain containing 2							27.0	27.0	27.0					5																	32074700		2203	4300	6503	SO:0001583	missense	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32074700C>T	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.3488C>T	5.37:g.32074700C>T	ENSP00000402033:p.Ser1163Phe					PDZD2_uc003jhm.2_Missense_Mutation_p.S1163F|PDZD2_uc011cnx.1_Missense_Mutation_p.S989F	p.S1163F	NM_178140	NP_835260	O15018	PDZD2_HUMAN			18	3876	+			1163					Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	c.3488C>T	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	C	14.25	2.478440	0.44044	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.08193	3.12;3.12	5.59	4.72	0.59763	.	0.898692	0.09477	N	0.796848	T	0.11281	0.0275	L	0.60455	1.87	0.09310	N	1	P;P	0.45902	0.779;0.868	B;B	0.37047	0.177;0.24	T	0.22661	-1.0210	10	0.72032	D	0.01	.	12.0776	0.53653	0.0:0.917:0.0:0.083	.	989;1163	B4E3P2;O15018	.;PDZD2_HUMAN	F	1163;965;1163	ENSP00000402033:S1163F;ENSP00000282493:S1163F	ENSP00000282493:S1163F	S	+	2	0	PDZD2	32110457	0.017000	0.18338	0.002000	0.10522	0.003000	0.03518	2.677000	0.46892	1.360000	0.45960	0.655000	0.94253	TCT		0.522	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1				41	23	0	0	0	1	0	41	23		
NIPBL	25836	broad.mit.edu	37	5	37016225	37016225	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr5:37016225G>A	ENST00000282516.8	+	23	5228	c.4729G>A	c.(4729-4731)Gaa>Aaa	p.E1577K	NIPBL_ENST00000448238.2_Missense_Mutation_p.E1577K	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1577					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CAATAAGCCTGAATGGCCAGC	0.368																																						uc003jkl.3		NaN																	0				ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	9						c.(4729-4731)GAA>AAA		delangin isoform A							90.0	84.0	86.0					5																	37016225		2203	4300	6503	SO:0001583	missense	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:37016225G>A	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.4729G>A	5.37:g.37016225G>A	ENSP00000282516:p.Glu1577Lys					NIPBL_uc003jkk.3_Missense_Mutation_p.E1577K	p.E1577K	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		23	5228	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		1577					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	37	c.4729G>A	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	G	36	5.601047	0.96614	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	T;T	0.65916	-0.18;-0.18	5.97	5.97	0.96955	Armadillo-like helical (1);Armadillo-type fold (1);	0.054604	0.64402	D	0.000001	D	0.82958	0.5150	M	0.87682	2.9	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.73708	0.977;0.981	D	0.84093	0.0391	10	0.62326	D	0.03	.	20.4324	0.99085	0.0:0.0:1.0:0.0	.	1577;1577	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	K	1577	ENSP00000282516:E1577K;ENSP00000406266:E1577K	ENSP00000282516:E1577K	E	+	1	0	NIPBL	37051982	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.471000	0.97696	2.833000	0.97629	0.585000	0.79938	GAA		0.368	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1		NM_015384		57	34	0	0	0	1	0	57	34		
EGFLAM	133584	broad.mit.edu	37	5	38407999	38407999	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr5:38407999G>C	ENST00000354891.3	+	9	1586	c.1240G>C	c.(1240-1242)Gaa>Caa	p.E414Q	EGFLAM_ENST00000397202.2_Intron|EGFLAM_ENST00000336740.6_Missense_Mutation_p.E180Q|EGFLAM_ENST00000322350.5_Missense_Mutation_p.E414Q	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	414	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)	p.E414K(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					AATTACTCTTGAATTTAGGGT	0.413																																					Colon(62;485 1295 3347 17454)	uc003jlc.1		NaN																	1	Substitution - Missense(1)		breast(1)	pancreas(3)|skin(3)|ovary(1)	7						c.(1240-1242)GAA>CAA		EGF-like, fibronectin type III and laminin G							107.0	100.0	102.0					5																	38407999		2203	4300	6503	SO:0001583	missense	133584					cell junction|proteinaceous extracellular matrix|synapse		g.chr5:38407999G>C	AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"""Fibronectin type III domain containing"""	26810	protein-coding gene	gene with protein product	"""pikachurin"", ""agrin-like"""					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.1240G>C	5.37:g.38407999G>C	ENSP00000346964:p.Glu414Gln					EGFLAM_uc003jlb.1_Missense_Mutation_p.E414Q|EGFLAM_uc003jle.1_Missense_Mutation_p.E180Q|EGFLAM_uc003jlf.1_Intron	p.E414Q	NM_152403	NP_689616	Q63HQ2	EGFLA_HUMAN			9	1564	+	all_lung(31;0.000385)		414			Laminin G-like 1.		A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Missense_Mutation	SNP	ENST00000354891.3	37	c.1240G>C	CCDS56363.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.028418	0.75390	.	.	ENSG00000164318	ENST00000354891;ENST00000322350;ENST00000336740;ENST00000339580	T;T;T	0.79554	-1.28;-1.28;-1.28	5.68	4.78	0.61160	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);	0.095597	0.64402	N	0.000001	D	0.86310	0.5902	L	0.45470	1.425	0.80722	D	1	D;D;P	0.89917	0.997;1.0;0.86	D;D;P	0.74023	0.932;0.982;0.655	D	0.86996	0.2113	10	0.54805	T	0.06	-4.5987	16.2976	0.82783	0.0:0.1326:0.8674:0.0	.	180;414;414	Q63HQ2-4;Q63HQ2;Q63HQ2-2	.;EGFLA_HUMAN;.	Q	414;414;180;180	ENSP00000346964:E414Q;ENSP00000313084:E414Q;ENSP00000337607:E180Q	ENSP00000313084:E414Q	E	+	1	0	EGFLAM	38443756	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.324000	0.79115	1.336000	0.45506	0.650000	0.86243	GAA		0.413	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1		NM_152403		13	61	0	0	0	1	0	13	61		
HCN1	348980	broad.mit.edu	37	5	45396805	45396805	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr5:45396805G>A	ENST00000303230.4	-	4	1076	c.1019C>T	c.(1018-1020)tCt>tTt	p.S340F		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	340					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CTTTCCCCAAGAATCATTCTG	0.428																																						uc003jok.2		NaN																	0				ovary(1)	1						c.(1018-1020)TCT>TTT		hyperpolarization activated cyclic							77.0	74.0	75.0					5																	45396805		2203	4300	6503	SO:0001583	missense	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45396805G>A	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.1019C>T	5.37:g.45396805G>A	ENSP00000307342:p.Ser340Phe						p.S340F	NM_021072	NP_066550	O60741	HCN1_HUMAN			4	1044	-			340			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000303230.4	37	c.1019C>T	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	G	18.38	3.612372	0.66672	.	.	ENSG00000164588	ENST00000303230	D	0.98617	-5.03	5.18	5.18	0.71444	Ion transport (1);	0.095802	0.45126	D	0.000381	D	0.98400	0.9468	M	0.77406	2.37	0.80722	D	1	B	0.28439	0.212	B	0.39068	0.289	D	0.98350	1.0543	10	0.44086	T	0.13	.	18.8829	0.92364	0.0:0.0:1.0:0.0	.	340	O60741	HCN1_HUMAN	F	340	ENSP00000307342:S340F	ENSP00000307342:S340F	S	-	2	0	HCN1	45432562	1.000000	0.71417	0.972000	0.41901	0.981000	0.71138	9.657000	0.98554	2.705000	0.92388	0.650000	0.86243	TCT		0.428	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1		NM_021072		19	59	0	0	0	1	0	19	59		
DHX29	54505	broad.mit.edu	37	5	54581607	54581607	+	Silent	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr5:54581607C>G	ENST00000251636.5	-	9	1297	c.1149G>C	c.(1147-1149)ctG>ctC	p.L383L	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	383						eukaryotic 43S preinitiation complex (GO:0016282)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|translation initiation factor activity (GO:0003743)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				CCCAATCAATCAGAAATTGTT	0.348																																						uc003jpx.2		NaN																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(1147-1149)CTG>CTC		DEAH (Asp-Glu-Ala-His) box polypeptide 29							67.0	69.0	68.0					5																	54581607		2203	4300	6503	SO:0001819	synonymous_variant	54505						ATP binding|ATP-dependent helicase activity|translation initiation factor activity	g.chr5:54581607C>G	AY036974	CCDS34158.1	5q11.2	2008-02-05	2003-06-13	2003-06-20	ENSG00000067248	ENSG00000067248		"""DEAH-boxes"""	15815	protein-coding gene	gene with protein product		612720	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 29"""	DDX29			Standard	XM_005248544		Approved		uc003jpx.3	Q7Z478	OTTHUMG00000162313	ENST00000251636.5:c.1149G>C	5.37:g.54581607C>G						DHX29_uc010ivw.2_RNA	p.L383L	NM_019030	NP_061903	Q7Z478	DHX29_HUMAN			9	1269	-		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)	383					O75549|Q63HN0|Q63HN3|Q8IWW2|Q8N3A1|Q9UMH2	Silent	SNP	ENST00000251636.5	37	c.1149G>C	CCDS34158.1																																																																																				0.348	DHX29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368532.1		NM_019030		13	14	0	0	0	1	0	13	14		
GFM2	84340	broad.mit.edu	37	5	74035829	74035829	+	Missense_Mutation	SNP	C	C	G	rs192887099		TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr5:74035829C>G	ENST00000296805.3	-	12	1521	c.1064G>C	c.(1063-1065)cGt>cCt	p.R355P	GFM2_ENST00000509430.1_Missense_Mutation_p.R355P|GFM2_ENST00000345239.2_Missense_Mutation_p.R355P|GFM2_ENST00000427854.2_Missense_Mutation_p.R355P	NM_032380.3	NP_115756.2			G elongation factor, mitochondrial 2											breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)		TTCATAGTTACGCTCTTCAGG	0.363																																						uc003kdh.1		NaN																	0					0						c.(1063-1065)CGT>CCT		mitochondrial elongation factor G2 isoform 1							90.0	80.0	83.0					5																	74035829		2203	4300	6503	SO:0001583	missense	84340				mitochondrial translation|ribosome disassembly	mitochondrion	GTP binding|GTPase activity	g.chr5:74035829C>G	AF111808	CCDS4023.1, CCDS4024.1, CCDS47232.1	5q13	2008-02-05			ENSG00000164347	ENSG00000164347			29682	protein-coding gene	gene with protein product		606544				11735030	Standard	NM_001281302		Approved	EFG2, FLJ21661	uc003kdh.1	Q969S9	OTTHUMG00000102058	ENST00000296805.3:c.1064G>C	5.37:g.74035829C>G	ENSP00000296805:p.Arg355Pro					GFM2_uc003kdi.1_Missense_Mutation_p.R355P|GFM2_uc010izj.1_Missense_Mutation_p.R387P|GFM2_uc010izk.1_RNA|GFM2_uc003kdj.1_Missense_Mutation_p.R355P|GFM2_uc010izl.1_Missense_Mutation_p.R313P	p.R355P	NM_032380	NP_115756	Q969S9	RRF2M_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)	12	1368	-		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)	355						Missense_Mutation	SNP	ENST00000296805.3	37	c.1064G>C	CCDS4023.1	.	.	.	.	.	.	.	.	.	.	C	19.36	3.811857	0.70797	.	.	ENSG00000164347	ENST00000296805;ENST00000345239;ENST00000546082;ENST00000509430;ENST00000427854	T;T;T;T	0.75367	-0.11;1.63;-0.11;-0.93	5.55	4.68	0.58851	Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.163302	0.53938	D	0.000049	T	0.78704	0.4325	L	0.49778	1.585	0.51767	D	0.999934	D;P;D;D;P	0.67145	0.996;0.805;0.988;0.996;0.705	D;P;P;P;B	0.64144	0.922;0.621;0.878;0.884;0.417	T	0.76293	-0.3012	10	0.33940	T	0.23	-1.1455	9.4892	0.38948	0.1414:0.7868:0.0:0.0718	.	355;355;355;355;355	F5H687;Q969S9-3;Q969S9-5;Q969S9-2;Q969S9	.;.;.;.;RRF2M_HUMAN	P	355	ENSP00000296805:R355P;ENSP00000296804:R355P;ENSP00000427004:R355P;ENSP00000405808:R355P	ENSP00000296805:R355P	R	-	2	0	GFM2	74071585	0.945000	0.32115	1.000000	0.80357	0.956000	0.61745	2.363000	0.44178	1.338000	0.45544	0.650000	0.86243	CGT		0.363	GFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219860.2		NM_032380		17	1	0	0	0	1	0	17	1		
WDR41	55255	broad.mit.edu	37	5	76736794	76736794	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr5:76736794G>A	ENST00000296679.4	-	9	1101	c.726C>T	c.(724-726)gtC>gtT	p.V242V	WDR41_ENST00000507029.1_Silent_p.V187V|WDR41_ENST00000414719.2_5'UTR	NM_018268.2	NP_060738.2	Q9HAD4	WDR41_HUMAN	WD repeat domain 41	242						lysosomal membrane (GO:0005765)				NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)	14		all_lung(232;0.000961)|Lung NSC(167;0.0011)|Ovarian(174;0.0105)|Prostate(461;0.059)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-50)|Epithelial(54;2.04e-44)|all cancers(79;6.84e-40)		TCAGCTCTCCGACGTGGGAGC	0.453																																						uc003kff.1		NaN																	0					0						c.(724-726)GTC>GTT		WD repeat domain 41							92.0	90.0	91.0					5																	76736794		2203	4300	6503	SO:0001819	synonymous_variant	55255							g.chr5:76736794G>A	AF115511	CCDS4038.1	5q14	2013-01-09			ENSG00000164253	ENSG00000164253		"""WD repeat domain containing"""	25601	protein-coding gene	gene with protein product						12477932	Standard	NM_018268		Approved	FLJ10904	uc003kff.1	Q9HAD4	OTTHUMG00000102169	ENST00000296679.4:c.726C>T	5.37:g.76736794G>A						WDR41_uc011csy.1_Silent_p.V184V|WDR41_uc011csz.1_Silent_p.V187V|WDR41_uc011cta.1_RNA|WDR41_uc011ctb.1_RNA	p.V242V	NM_018268	NP_060738	Q9HAD4	WDR41_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.3e-50)|Epithelial(54;2.04e-44)|all cancers(79;6.84e-40)	9	1013	-		all_lung(232;0.000961)|Lung NSC(167;0.0011)|Ovarian(174;0.0105)|Prostate(461;0.059)	242			WD 4.		B4DT55|Q7Z792|Q8IWG3|Q8IXA9|Q8NDA7|Q9NV62	Silent	SNP	ENST00000296679.4	37	c.726C>T	CCDS4038.1	.	.	.	.	.	.	.	.	.	.	G	9.649	1.141029	0.21205	.	.	ENSG00000164253	ENST00000511630	.	.	.	5.95	2.06	0.26882	.	.	.	.	.	T	0.43919	0.1269	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.27226	-1.0080	4	.	.	.	-9.5154	2.2258	0.03983	0.5054:0.1165:0.2652:0.1128	.	.	.	.	L	68	.	.	S	-	2	0	WDR41	76772550	0.232000	0.23762	0.991000	0.47740	0.912000	0.54170	-0.119000	0.10676	0.512000	0.28257	-0.300000	0.09419	TCG		0.453	WDR41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220014.2		NM_018268		11	27	0	0	0	1	0	11	27		
SERINC5	256987	broad.mit.edu	37	5	79473155	79473155	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr5:79473155G>C	ENST00000507668.2	-	4	589	c.439C>G	c.(439-441)Cag>Gag	p.Q147E	SERINC5_ENST00000509193.1_Missense_Mutation_p.Q147E|SERINC5_ENST00000512972.2_Missense_Mutation_p.Q147E|SERINC5_ENST00000512721.1_Missense_Mutation_p.Q147E|SERINC5_ENST00000513907.1_5'UTR	NM_001174071.1|NM_178276.5	NP_001167542.1|NP_840060.1	Q86VE9	SERC5_HUMAN	serine incorporator 5	147					myelination (GO:0042552)|phosphatidylserine metabolic process (GO:0006658)|phospholipid biosynthetic process (GO:0008654)|positive regulation of transferase activity (GO:0051347)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)	L-serine transmembrane transporter activity (GO:0015194)			endometrium(3)|kidney(1)|lung(3)|ovary(1)	8		Lung NSC(167;0.00328)|all_lung(232;0.00356)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;2.93e-46)|Epithelial(54;5.59e-40)|all cancers(79;1.89e-34)		AAGGTGTCCTGATCTGGAATG	0.413																																						uc003kgj.2		NaN																	0				ovary(1)	1						c.(439-441)CAG>GAG		developmentally regulated protein TPO1							125.0	114.0	117.0					5																	79473155		1851	4089	5940	SO:0001583	missense	256987				phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity	endoplasmic reticulum membrane|integral to membrane		g.chr5:79473155G>C	AF498273	CCDS54874.1	5q14.1	2014-01-28	2005-10-14	2005-10-14		ENSG00000164300			18825	protein-coding gene	gene with protein product		614551	"""chromosome 5 open reading frame 12"""	C5orf12		12688535	Standard	NM_178276		Approved	TPO1	uc011ctj.2	Q86VE9		ENST00000507668.2:c.439C>G	5.37:g.79473155G>C	ENSP00000426237:p.Gln147Glu					SERINC5_uc003kgk.2_Missense_Mutation_p.Q147E|SERINC5_uc003kgl.2_RNA|SERINC5_uc003kgm.2_Missense_Mutation_p.Q147E|SERINC5_uc011ctj.1_Missense_Mutation_p.Q147E	p.Q147E	NM_178276	NP_840060	Q86VE9	SERC5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.93e-46)|Epithelial(54;5.59e-40)|all cancers(79;1.89e-34)	4	568	-		Lung NSC(167;0.00328)|all_lung(232;0.00356)|Ovarian(174;0.0261)	147			Cytoplasmic (Potential).		B4DMH7|Q495A4|Q495A6	Missense_Mutation	SNP	ENST00000507668.2	37	c.439C>G	CCDS54873.1	.	.	.	.	.	.	.	.	.	.	G	7.945	0.743702	0.15642	.	.	ENSG00000164300	ENST00000507668;ENST00000329637;ENST00000509193;ENST00000512972;ENST00000512721	T;T;T;T	0.15256	2.45;2.45;2.44;2.72	5.36	5.36	0.76844	.	0.052964	0.85682	D	0.000000	T	0.15435	0.0372	N	0.16233	0.39	0.52099	D	0.999945	B;B;B;B	0.32893	0.389;0.014;0.389;0.389	B;B;B;B	0.42916	0.268;0.007;0.402;0.268	T	0.01405	-1.1363	10	0.02654	T	1	.	19.4651	0.94934	0.0:0.0:1.0:0.0	.	147;147;147;147	B4DMH7;Q86VE9-2;D6RHG7;Q86VE9	.;.;.;SERC5_HUMAN	E	147;146;147;147;147	ENSP00000426237:Q147E;ENSP00000426134:Q147E;ENSP00000421665:Q147E;ENSP00000420863:Q147E	ENSP00000327542:Q146E	Q	-	1	0	SERINC5	79508911	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.086000	0.64474	2.671000	0.90904	0.655000	0.94253	CAG		0.413	SERINC5-201	KNOWN	basic|CCDS	protein_coding	protein_coding			NM_178276		29	4	0	0	0	1	0	29	4		
TTC37	9652	broad.mit.edu	37	5	94834293	94834293	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr5:94834293G>C	ENST00000358746.2	-	33	3642	c.3344C>G	c.(3343-3345)tCt>tGt	p.S1115C		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	1115						cytoplasm (GO:0005737)|nucleus (GO:0005634)|Ski complex (GO:0055087)|transcriptionally active chromatin (GO:0035327)				breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						CTTTAAGATAGAGCTGTAAAG	0.433																																						uc003klb.2		NaN																	0				ovary(3)|pancreas(1)	4						c.(3343-3345)TCT>TGT		tetratricopeptide repeat domain 37							65.0	61.0	63.0					5																	94834293		2203	4300	6503	SO:0001583	missense	9652						binding	g.chr5:94834293G>C	AB002370	CCDS4072.1	5q15	2014-09-17	2008-06-11	2008-06-11	ENSG00000198677	ENSG00000198677		"""Tetratricopeptide (TTC) repeat domain containing"""	23639	protein-coding gene	gene with protein product		614589	"""KIAA0372"""	KIAA0372		9205841	Standard	NM_014639		Approved		uc003klb.3	Q6PGP7	OTTHUMG00000121165	ENST00000358746.2:c.3344C>G	5.37:g.94834293G>C	ENSP00000351596:p.Ser1115Cys						p.S1115C	NM_014639	NP_055454	Q6PGP7	TTC37_HUMAN			33	3614	-			1115					O15077|Q6PJI3	Missense_Mutation	SNP	ENST00000358746.2	37	c.3344C>G	CCDS4072.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.215490	0.79352	.	.	ENSG00000198677	ENST00000358746	T	0.37752	1.18	5.84	5.84	0.93424	Tetratricopeptide-like helical (1);	0.111807	0.64402	D	0.000007	T	0.60843	0.2300	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.58730	-0.7585	10	0.56958	D	0.05	.	20.1535	0.98095	0.0:0.0:1.0:0.0	.	1115	Q6PGP7	TTC37_HUMAN	C	1115	ENSP00000351596:S1115C	ENSP00000351596:S1115C	S	-	2	0	TTC37	94860049	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	8.907000	0.92634	2.764000	0.94973	0.650000	0.86243	TCT		0.433	TTC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241651.1		NM_014639		11	15	0	0	0	1	0	11	15		
GLRX	2745	broad.mit.edu	37	5	95158310	95158310	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr5:95158310G>C	ENST00000379979.4	-	1	108	c.57C>G	c.(55-57)atC>atG	p.I19M	GLRX_ENST00000505427.1_Missense_Mutation_p.I19M|GLRX_ENST00000512469.2_Missense_Mutation_p.I19M|GLRX_ENST00000237858.6_Missense_Mutation_p.I19M|GLRX_ENST00000508780.1_Missense_Mutation_p.I19M|GLRX_ENST00000507605.1_5'Flank	NM_002064.2	NP_002055.1	P35754	GLRX1_HUMAN	glutaredoxin (thioltransferase)	19	Glutaredoxin. {ECO:0000255|PROSITE- ProRule:PRU00686}.				cell redox homeostasis (GO:0045454)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of membrane potential (GO:0045838)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein deglutathionylation (GO:0080058)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|glutathione disulfide oxidoreductase activity (GO:0015038)|glutathione oxidoreductase activity (GO:0097573)|protein N-terminus binding (GO:0047485)			endometrium(3)|large_intestine(1)|lung(1)	5		all_cancers(142;3.38e-06)|all_epithelial(76;5.66e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;2.62e-16)	Glutathione(DB00143)	AGGTGGGCTTGATGAACACAA	0.547																																						uc003klo.3		NaN																	0					0						c.(55-57)ATC>ATG		glutaredoxin (thioltransferase)	Glutathione(DB00143)						90.0	81.0	84.0					5																	95158310		2203	4300	6503	SO:0001583	missense	2745				cell redox homeostasis|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|transport	cytosol	electron carrier activity|glutathione disulfide oxidoreductase activity|protein disulfide oxidoreductase activity|protein N-terminus binding	g.chr5:95158310G>C		CCDS4078.1	5q14	2008-02-05			ENSG00000173221	ENSG00000173221			4330	protein-coding gene	gene with protein product		600443				8838810	Standard	NM_002064		Approved	GRX, GRX1	uc021ybo.1	P35754	OTTHUMG00000121167	ENST00000379979.4:c.57C>G	5.37:g.95158310G>C	ENSP00000369314:p.Ile19Met					GLRX_uc003kln.3_Missense_Mutation_p.I19M	p.I19M	NM_001118890	NP_001112362	P35754	GLRX1_HUMAN		all cancers(79;2.62e-16)	1	268	-		all_cancers(142;3.38e-06)|all_epithelial(76;5.66e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)	19			Glutaredoxin.		B2R4L2|Q3KQS1|Q6ICT1	Missense_Mutation	SNP	ENST00000379979.4	37	c.57C>G	CCDS4078.1	.	.	.	.	.	.	.	.	.	.	G	17.45	3.393175	0.62066	.	.	ENSG00000173221	ENST00000508780;ENST00000237858;ENST00000379979;ENST00000505427;ENST00000512469	T;T;T;T;T	0.27256	1.68;1.68;1.68;1.68;1.68	5.15	3.31	0.37934	Glutaredoxin subgroup (1);Glutaredoxin (2);Glutaredoxin, eukaryotic/virial (1);Thioredoxin-like fold (2);	0.545245	0.20420	N	0.092692	T	0.26846	0.0657	L	0.56340	1.77	0.34402	D	0.695342	B	0.13594	0.008	B	0.24155	0.051	T	0.29336	-1.0015	10	0.62326	D	0.03	-32.426	11.6654	0.51370	0.0:0.3453:0.6547:0.0	.	19	P35754	GLRX1_HUMAN	M	19	ENSP00000422708:I19M;ENSP00000237858:I19M;ENSP00000369314:I19M;ENSP00000427353:I19M;ENSP00000424636:I19M	ENSP00000237858:I19M	I	-	3	3	GLRX	95184066	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.585000	0.23879	0.699000	0.31761	0.591000	0.81541	ATC		0.547	GLRX-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370267.1		NM_002064		19	29	0	0	0	1	0	19	29		
ERAP2	64167	broad.mit.edu	37	5	96219518	96219518	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr5:96219518G>C	ENST00000437043.3	+	3	1309	c.598G>C	c.(598-600)Gag>Cag	p.E200Q	ERAP2_ENST00000379904.4_Missense_Mutation_p.E200Q|CTD-2260A17.2_ENST00000501338.1_Intron|ERAP2_ENST00000510309.1_Missense_Mutation_p.E200Q	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	200					antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|regulation of blood pressure (GO:0008217)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		AACAGATTTTGAGCCAACCCA	0.433																																						uc003kmq.2		NaN																	0					0						c.(598-600)GAG>CAG		endoplasmic reticulum aminopeptidase 2							85.0	81.0	82.0					5																	96219518		2203	4300	6503	SO:0001583	missense	64167				antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr5:96219518G>C	AF191545	CCDS4086.1	5q15	2007-11-21			ENSG00000164308	ENSG00000164308			29499	protein-coding gene	gene with protein product	"""leukocyte-derived arginine aminopeptidase"""	609497				12799365, 15908954	Standard	NM_022350		Approved	L-RAP, LRAP	uc003kmt.3	Q6P179	OTTHUMG00000128718	ENST00000437043.3:c.598G>C	5.37:g.96219518G>C	ENSP00000400376:p.Glu200Gln					uc003kmo.1_Intron|ERAP2_uc003kmt.2_Missense_Mutation_p.E200Q|ERAP2_uc003kmr.2_RNA|ERAP2_uc003kms.2_Missense_Mutation_p.E194Q|ERAP2_uc003kmu.2_RNA	p.E200Q	NM_022350	NP_071745	Q6P179	ERAP2_HUMAN		COAD - Colon adenocarcinoma(37;0.0703)	3	1308	+		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)	200			Lumenal (Potential).	Substrate (By similarity).	Q7Z5K1|Q8TD32|Q8WVJ4|Q9HBX2	Missense_Mutation	SNP	ENST00000437043.3	37	c.598G>C	CCDS4086.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.237566	0.79800	.	.	ENSG00000164308	ENST00000437043;ENST00000510373;ENST00000513084;ENST00000379904;ENST00000510309;ENST00000507346	T;T;T;T;T	0.05855	4.02;4.02;4.02;3.38;4.02	5.13	3.27	0.37495	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.225617	0.34932	N	0.003567	T	0.17959	0.0431	L	0.61036	1.89	0.42761	D	0.993802	D;D	0.65815	0.994;0.995	D;D	0.67382	0.919;0.951	T	0.00595	-1.1653	10	0.35671	T	0.21	.	11.0742	0.48021	0.0:0.14:0.7145:0.1454	.	200;200	Q6P179-3;Q6P179	.;ERAP2_HUMAN	Q	200;200;200;200;200;26	ENSP00000400376:E200Q;ENSP00000421175:E200Q;ENSP00000421849:E200Q;ENSP00000369235:E200Q;ENSP00000425758:E200Q	ENSP00000369235:E200Q	E	+	1	0	ERAP2	96245274	1.000000	0.71417	0.561000	0.28357	0.975000	0.68041	2.683000	0.46943	0.605000	0.29947	0.557000	0.71058	GAG		0.433	ERAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250623.2		NM_022350		15	18	0	0	0	1	0	15	18		
ERAP2	64167	broad.mit.edu	37	5	96249154	96249154	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr5:96249154C>T	ENST00000437043.3	+	17	3361	c.2650C>T	c.(2650-2652)Ctg>Ttg	p.L884L	ERAP2_ENST00000379904.4_Silent_p.L839L|CTD-2260A17.2_ENST00000501338.1_Intron	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	884					antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|regulation of blood pressure (GO:0008217)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		GACCCATCTTCTGAAAAAGTT	0.413																																						uc003kmq.2		NaN																	0					0						c.(2650-2652)CTG>TTG		endoplasmic reticulum aminopeptidase 2							54.0	50.0	51.0					5																	96249154		2203	4300	6503	SO:0001819	synonymous_variant	64167				antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr5:96249154C>T	AF191545	CCDS4086.1	5q15	2007-11-21			ENSG00000164308	ENSG00000164308			29499	protein-coding gene	gene with protein product	"""leukocyte-derived arginine aminopeptidase"""	609497				12799365, 15908954	Standard	NM_022350		Approved	L-RAP, LRAP	uc003kmt.3	Q6P179	OTTHUMG00000128718	ENST00000437043.3:c.2650C>T	5.37:g.96249154C>T						uc003kmo.1_Intron|ERAP2_uc003kmt.2_Silent_p.L884L|ERAP2_uc003kmr.2_RNA|ERAP2_uc003kms.2_Silent_p.L833L|ERAP2_uc003kmu.2_RNA	p.L884L	NM_022350	NP_071745	Q6P179	ERAP2_HUMAN		COAD - Colon adenocarcinoma(37;0.0703)	17	3360	+		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)	884			Lumenal (Potential).		Q7Z5K1|Q8TD32|Q8WVJ4|Q9HBX2	Silent	SNP	ENST00000437043.3	37	c.2650C>T	CCDS4086.1	.	.	.	.	.	.	.	.	.	.	C	2.010	-0.427213	0.04701	.	.	ENSG00000164308	ENST00000512869	.	.	.	4.94	1.89	0.25635	.	.	.	.	.	T	0.30262	0.0759	.	.	.	0.29511	N	0.854201	.	.	.	.	.	.	T	0.25847	-1.0120	4	.	.	.	.	4.0188	0.09655	0.143:0.4665:0.2984:0.0921	.	.	.	.	F	38	.	.	S	+	2	0	ERAP2	96274910	0.384000	0.25164	0.260000	0.24451	0.496000	0.33645	0.648000	0.24828	0.556000	0.29098	0.563000	0.77884	TCT		0.413	ERAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250623.2		NM_022350		7	15	0	0	0	1	0	7	15		
RIOK2	55781	broad.mit.edu	37	5	96503580	96503580	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr5:96503580C>G	ENST00000283109.3	-	8	1056	c.988G>C	c.(988-990)Gag>Cag	p.E330Q	RIOK2_ENST00000508447.1_Missense_Mutation_p.E330Q|CTD-2215E18.1_ENST00000509481.1_Intron	NM_018343.2	NP_060813.2	Q9BVS4	RIOK2_HUMAN	RIO kinase 2	330	Protein kinase.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|urinary_tract(2)	23		all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0657)		TCAGATCCCTCTTTTGTTTCA	0.408																																						uc003kmz.2		NaN																	0				kidney(1)	1						c.(988-990)GAG>CAG		RIO kinase 2 isoform 1							126.0	133.0	131.0					5																	96503580		2203	4300	6503	SO:0001583	missense	55781						ATP binding|protein serine/threonine kinase activity	g.chr5:96503580C>G	AK002021	CCDS4089.1, CCDS54884.1	5q14	2012-12-10	2012-12-10		ENSG00000058729	ENSG00000058729			18999	protein-coding gene	gene with protein product			"""RIO kinase 2 (yeast)"""				Standard	NM_018343		Approved	FLJ11159	uc003kmz.3	Q9BVS4	OTTHUMG00000128723	ENST00000283109.3:c.988G>C	5.37:g.96503580C>G	ENSP00000283109:p.Glu330Gln					RIOK2_uc003kna.3_Missense_Mutation_p.E330Q	p.E330Q	NM_018343	NP_060813	Q9BVS4	RIOK2_HUMAN		COAD - Colon adenocarcinoma(37;0.0657)	8	1098	-		all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105)	330			Protein kinase.		D6RDI3|Q9NUT0	Missense_Mutation	SNP	ENST00000283109.3	37	c.988G>C	CCDS4089.1	.	.	.	.	.	.	.	.	.	.	C	12.13	1.844330	0.32606	.	.	ENSG00000058729	ENST00000283109;ENST00000508447	T;T	0.21361	2.01;2.01	5.65	2.77	0.32553	.	0.594451	0.18720	N	0.133027	T	0.21387	0.0515	M	0.68952	2.095	0.09310	N	0.999999	P;P	0.36354	0.498;0.549	B;B	0.32928	0.155;0.1	T	0.07578	-1.0765	10	0.40728	T	0.16	-11.4492	11.0738	0.48019	0.0:0.6945:0.238:0.0675	.	330;330	D6RDI3;Q9BVS4	.;RIOK2_HUMAN	Q	330	ENSP00000283109:E330Q;ENSP00000420932:E330Q	ENSP00000283109:E330Q	E	-	1	0	RIOK2	96529336	0.461000	0.25783	0.002000	0.10522	0.010000	0.07245	2.243000	0.43115	0.678000	0.31325	0.460000	0.39030	GAG		0.408	RIOK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250628.1		NM_018343		52	69	0	0	0	1	0	52	69		
REEP5	7905	broad.mit.edu	37	5	112238167	112238167	+	Silent	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr5:112238167C>G	ENST00000379638.4	-	3	609	c.261G>C	c.(259-261)ctG>ctC	p.L87L	REEP5_ENST00000474542.2_5'UTR|REEP5_ENST00000504247.1_Intron|REEP5_ENST00000545426.1_Silent_p.L87L|REEP5_ENST00000513339.1_Silent_p.L87L	NM_005669.4	NP_005660.4	Q00765	REEP5_HUMAN	receptor accessory protein 5	87						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	5		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)		Epithelial(69;1.3e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.26e-08)|all cancers(49;3.56e-07)|Colorectal(14;0.00778)|COAD - Colon adenocarcinoma(37;0.013)		CCCAGTAGGTCAGCCACTGGG	0.398																																						uc003kqe.1		NaN																	0					0						c.(259-261)CTG>CTC		receptor accessory protein 5							148.0	141.0	143.0					5																	112238167		2202	4300	6502	SO:0001819	synonymous_variant	7905					integral to membrane	protein binding	g.chr5:112238167C>G	BC000232	CCDS4109.2	5q22-q23	2008-02-05	2006-02-07	2006-02-07	ENSG00000129625	ENSG00000129625		"""Receptor accessory proteins"""	30077	protein-coding gene	gene with protein product	"""deleted in polyposis 1"", ""polyposis locus protein 1"", ""polyposis coli region hypothetical protein DP1"""	125265	"""chromosome 5 open reading frame 18"""	C5orf18		16271481, 15550249	Standard	NM_005669		Approved	DP1, TB2, D5S346	uc003kqe.1	Q00765	OTTHUMG00000128807	ENST00000379638.4:c.261G>C	5.37:g.112238167C>G						REEP5_uc011cvw.1_Silent_p.L60L|REEP5_uc011cvx.1_RNA|REEP5_uc011cvy.1_Silent_p.L87L|REEP5_uc011cvz.1_Intron	p.L87L	NM_005669	NP_005660	Q00765	REEP5_HUMAN		Epithelial(69;1.3e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.26e-08)|all cancers(49;3.56e-07)|Colorectal(14;0.00778)|COAD - Colon adenocarcinoma(37;0.013)	3	405	-		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)	87					B7Z681|D3DT04|Q04198|Q5QGT0|Q9BWH9	Silent	SNP	ENST00000379638.4	37	c.261G>C	CCDS4109.2																																																																																				0.398	REEP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250739.2		NM_005669		13	28	0	0	0	1	0	13	28		
LOX	4015	broad.mit.edu	37	5	121413262	121413262	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr5:121413262G>A	ENST00000231004.4	-	1	718	c.419C>T	c.(418-420)tCg>tTg	p.S140L	LOX_ENST00000513319.1_5'Flank	NM_001178102.1|NM_002317.5	NP_001171573.1|NP_002308.2	P28300	LYOX_HUMAN	lysyl oxidase	140					blood vessel development (GO:0001568)|cellular protein modification process (GO:0006464)|collagen fibril organization (GO:0030199)|elastic fiber assembly (GO:0048251)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|wound healing (GO:0042060)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)			endometrium(1)|lung(6)|prostate(1)	8		all_cancers(142;0.0124)|Prostate(80;0.0322)|Ovarian(225;0.0814)|Breast(839;0.143)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;2.14e-11)|OV - Ovarian serous cystadenocarcinoma(64;7.87e-10)|all cancers(49;2.49e-09)|COAD - Colon adenocarcinoma(49;0.02)		CTCCGCGCGCGAGGCGCCAGC	0.692																																						uc003ksu.2		NaN																	0				lung(1)	1						c.(418-420)TCG>TTG		lysyl oxidase preproprotein							20.0	25.0	23.0					5																	121413262		2173	4291	6464	SO:0001583	missense	4015				protein modification process	extracellular space	copper ion binding|protein-lysine 6-oxidase activity	g.chr5:121413262G>A		CCDS4129.1	5q23.3-q31.2	2008-02-05			ENSG00000113083	ENSG00000113083	1.4.3.13		6664	protein-coding gene	gene with protein product		153455				1685472	Standard	NM_002317		Approved		uc003ksu.3	P28300	OTTHUMG00000128914	ENST00000231004.4:c.419C>T	5.37:g.121413262G>A	ENSP00000231004:p.Ser140Leu					LOX_uc010jcq.2_5'Flank|LOX_uc011cwk.1_5'Flank|LOX_uc010jcr.2_5'Flank	p.S140L	NM_002317	NP_002308	P28300	LYOX_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;2.14e-11)|OV - Ovarian serous cystadenocarcinoma(64;7.87e-10)|all cancers(49;2.49e-09)|COAD - Colon adenocarcinoma(49;0.02)	1	794	-		all_cancers(142;0.0124)|Prostate(80;0.0322)|Ovarian(225;0.0814)|Breast(839;0.143)	140					B2R5Q3|Q5FWF0	Missense_Mutation	SNP	ENST00000231004.4	37	c.419C>T	CCDS4129.1	.	.	.	.	.	.	.	.	.	.	G	4.523	0.097129	0.08681	.	.	ENSG00000113083	ENST00000231004;ENST00000543620	T	0.25085	1.82	4.39	3.45	0.39498	.	1.156380	0.06421	N	0.722346	T	0.19644	0.0472	L	0.29908	0.895	0.09310	N	1	B	0.20261	0.043	B	0.15052	0.012	T	0.10941	-1.0608	10	0.40728	T	0.16	.	6.6943	0.23191	0.1002:0.1834:0.7164:0.0	.	140	P28300	LYOX_HUMAN	L	140;100	ENSP00000231004:S140L	ENSP00000231004:S140L	S	-	2	0	LOX	121441161	0.797000	0.28877	0.006000	0.13384	0.018000	0.09664	4.021000	0.57196	1.965000	0.57142	0.305000	0.20034	TCG		0.692	LOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250887.2				14	3	0	0	0	1	0	14	3		
PRRC1	133619	broad.mit.edu	37	5	126862374	126862374	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr5:126862374C>T	ENST00000296666.8	+	4	746	c.558C>T	c.(556-558)acC>acT	p.T186T	PRRC1_ENST00000512635.2_Silent_p.T186T|PRRC1_ENST00000442138.2_Silent_p.T186T	NM_130809.3	NP_570721.1	Q96M27	PRRC1_HUMAN	proline-rich coiled-coil 1	186						Golgi apparatus (GO:0005794)				endometrium(1)|large_intestine(1)|lung(4)	6		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0851)|Epithelial(69;0.113)		GAACTGGAACCACATCAGCCA	0.413																																						uc003kuk.2		NaN																	0					0						c.(556-558)ACC>ACT		proline-rich coiled-coil 1							75.0	75.0	75.0					5																	126862374		2203	4300	6503	SO:0001819	synonymous_variant	133619					Golgi apparatus		g.chr5:126862374C>T	AJ515429	CCDS4143.1, CCDS68943.1	5q23.2	2008-02-05			ENSG00000164244	ENSG00000164244			28164	protein-coding gene	gene with protein product						15541471	Standard	NM_130809		Approved	FLJ32875	uc003kuk.3	Q96M27	OTTHUMG00000128982	ENST00000296666.8:c.558C>T	5.37:g.126862374C>T						PRRC1_uc003kuj.3_Silent_p.T186T	p.T186T	NM_130809	NP_570721	Q96M27	PRRC1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0851)|Epithelial(69;0.113)	4	738	+		Prostate(80;0.165)	186					Q69YM8|Q7L2U7|Q86Y42|Q8IVJ4|Q8IVL4|Q8NEZ7|Q96AJ3	Silent	SNP	ENST00000296666.8	37	c.558C>T	CCDS4143.1																																																																																				0.413	PRRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250971.3		NM_130809		16	17	0	0	0	1	0	16	17		
EGR1	1958	broad.mit.edu	37	5	137801586	137801586	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr5:137801586C>A	ENST00000239938.4	+	1	408	c.136C>A	c.(136-138)Ccc>Acc	p.P46T		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	46					BMP signaling pathway (GO:0030509)|cellular response to antibiotic (GO:0071236)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to gamma radiation (GO:0071480)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heparin (GO:0071504)|cellular response to hyperoxia (GO:0071455)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to isoquinoline alkaloid (GO:0071317)|cellular response to mechanical stimulus (GO:0071260)|cellular response to mycophenolic acid (GO:0071506)|cellular response to steroid hormone stimulus (GO:0071383)|circadian rhythm (GO:0007623)|cytokine-mediated signaling pathway (GO:0019221)|glomerular mesangial cell proliferation (GO:0072110)|interleukin-1-mediated signaling pathway (GO:0070498)|learning or memory (GO:0007611)|long-term synaptic potentiation (GO:0060291)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte differentiation (GO:0048709)|positive regulation of glomerular metanephric mesangial cell proliferation (GO:0072303)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of protein sumoylation (GO:0033233)|response to amphetamine (GO:0001975)|response to carbon monoxide (GO:0034465)|response to cocaine (GO:0042220)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to norepinephrine (GO:0071873)|response to nutrient levels (GO:0031667)|skeletal muscle cell differentiation (GO:0035914)|T cell differentiation (GO:0030217)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|histone acetyltransferase binding (GO:0035035)|metal ion binding (GO:0046872)|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)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CAACGGGGCTCCCCAGTTCCT	0.687																																						uc003ldb.1		NaN																	0				ovary(1)	1						c.(136-138)CCC>ACC		early growth response 1							58.0	55.0	56.0					5																	137801586		2203	4300	6503	SO:0001583	missense	1958				cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr5:137801586C>A	M62829	CCDS4206.1	5q23-q31	2013-01-08			ENSG00000120738	ENSG00000120738		"""Zinc fingers, C2H2-type"""	3238	protein-coding gene	gene with protein product	"""nerve growth factor-induced protein A"", ""transcription factor ETR103"", ""zinc finger protein 225"", ""early growth response protein 1"""	128990				3127059	Standard	NM_001964		Approved	TIS8, G0S30, NGFI-A, KROX-24, ZIF-268, AT225, ZNF225	uc003ldb.1	P18146	OTTHUMG00000129197	ENST00000239938.4:c.136C>A	5.37:g.137801586C>A	ENSP00000239938:p.Pro46Thr					EGR1_uc011cyu.1_Missense_Mutation_p.P46T	p.P46T	NM_001964	NP_001955	P18146	EGR1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		1	406	+			46						Missense_Mutation	SNP	ENST00000239938.4	37	c.136C>A	CCDS4206.1	.	.	.	.	.	.	.	.	.	.	C	17.36	3.369508	0.61624	.	.	ENSG00000120738	ENST00000535792;ENST00000411801;ENST00000239938	T	0.08634	3.07	5.01	5.01	0.66863	.	0.239862	0.42420	D	0.000713	T	0.09862	0.0242	L	0.28115	0.83	0.47659	D	0.99948	B;P	0.48162	0.274;0.906	B;P	0.46585	0.091;0.521	T	0.37596	-0.9699	10	0.17832	T	0.49	-13.0514	18.4836	0.90820	0.0:1.0:0.0:0.0	.	46;46	B4DNX4;P18146	.;EGR1_HUMAN	T	46	ENSP00000239938:P46T	ENSP00000239938:P46T	P	+	1	0	EGR1	137829485	1.000000	0.71417	1.000000	0.80357	0.580000	0.36256	4.218000	0.58554	2.605000	0.88082	0.491000	0.48974	CCC		0.687	EGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251274.1		NM_001964		37	2	1	0	2.40579e-17	1	2.66234e-17	37	2		
PCDHB1	29930	broad.mit.edu	37	5	140432144	140432144	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr5:140432144G>C	ENST00000306549.3	+	1	1166	c.1089G>C	c.(1087-1089)caG>caC	p.Q363H		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1	363	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CACCACCACAGACAGTAGTAG	0.502																																						uc003lik.1		NaN																	0					0						c.(1087-1089)CAG>CAC		protocadherin beta 1 precursor							113.0	105.0	107.0					5																	140432144		2203	4300	6503	SO:0001583	missense	29930				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140432144G>C	AF152488	CCDS4243.1	5q31	2010-01-26			ENSG00000171815	ENSG00000171815		"""Cadherins / Protocadherins : Clustered"""	8680	other	protocadherin		606327				10380929	Standard	NM_013340		Approved	PCDH-BETA1	uc003lik.1	Q9Y5F3	OTTHUMG00000129627	ENST00000306549.3:c.1089G>C	5.37:g.140432144G>C	ENSP00000307234:p.Gln363His						p.Q363H	NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1166	+			363			Cadherin 4.|Extracellular (Potential).		Q2M257	Missense_Mutation	SNP	ENST00000306549.3	37	c.1089G>C	CCDS4243.1	.	.	.	.	.	.	.	.	.	.	G	8.982	0.975462	0.18736	.	.	ENSG00000171815	ENST00000306549	T	0.37915	1.17	6.17	1.27	0.21489	Cadherin (3);Cadherin-like (1);	0.479315	0.17486	N	0.172528	T	0.24624	0.0597	N	0.17723	0.515	0.09310	N	0.999993	P	0.49696	0.927	P	0.45946	0.498	T	0.09773	-1.0659	10	0.72032	D	0.01	.	6.1862	0.20498	0.3312:0.2854:0.3834:0.0	.	363	Q9Y5F3	PCDB1_HUMAN	H	363	ENSP00000307234:Q363H	ENSP00000307234:Q363H	Q	+	3	2	PCDHB1	140412328	0.000000	0.05858	0.744000	0.31058	0.358000	0.29455	-1.249000	0.02888	0.190000	0.20209	0.655000	0.94253	CAG		0.502	PCDHB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251822.2		NM_013340		19	31	0	0	0	1	0	19	31		
PCDHB2	56133	broad.mit.edu	37	5	140476693	140476693	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr5:140476693C>T	ENST00000194155.4	+	1	2467	c.2319C>T	c.(2317-2319)atC>atT	p.I773I		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	773					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGCCAATTATCCCCAACTTCG	0.512																																						uc003lil.2		NaN																	0				ovary(3)|upper_aerodigestive_tract(2)|pancreas(1)	6						c.(2317-2319)ATC>ATT		protocadherin beta 2 precursor							78.0	80.0	80.0					5																	140476693		2202	4296	6498	SO:0001819	synonymous_variant	56133				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140476693C>T	AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"""Cadherins / Protocadherins : Clustered"""	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.2319C>T	5.37:g.140476693C>T						PCDHB2_uc003lim.1_Silent_p.I434I	p.I773I	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2457	+			773			Cytoplasmic (Potential).		Q4KMU1	Silent	SNP	ENST00000194155.4	37	c.2319C>T	CCDS4244.1																																																																																				0.512	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2		NM_018936		40	10	0	0	0	1	0	40	10		
PCDHB5	26167	broad.mit.edu	37	5	140516663	140516663	+	Silent	SNP	G	G	A	rs149096993		TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr5:140516663G>A	ENST00000231134.5	+	1	1864	c.1647G>A	c.(1645-1647)ctG>ctA	p.L549L		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	549	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCGCGTGCTGGTGCTGGACG	0.721																																						uc003liq.2		NaN																	0				skin(3)|ovary(2)	5						c.(1645-1647)CTG>CTA		protocadherin beta 5 precursor		G		1,4397		0,1,2198	30.0	34.0	33.0		1647	3.5	0.8	5	dbSNP_134	33	1,8587		0,1,4293	no	coding-synonymous	PCDHB5	NM_015669.2		0,2,6491	AA,AG,GG		0.0116,0.0227,0.0154		549/796	140516663	2,12984	2199	4294	6493	SO:0001819	synonymous_variant	26167				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140516663G>A	AF152498	CCDS4247.1	5q31	2010-01-26			ENSG00000113209	ENSG00000113209		"""Cadherins / Protocadherins : Clustered"""	8690	other	protocadherin		606331				10380929	Standard	NM_015669		Approved	DKFZp586B0217, PCDH-BETA5	uc003liq.3	Q9Y5E4	OTTHUMG00000129616	ENST00000231134.5:c.1647G>A	5.37:g.140516663G>A							p.L549L	NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1864	+			549			Extracellular (Potential).|Cadherin 5.		Q549F4|Q9UFU9	Silent	SNP	ENST00000231134.5	37	c.1647G>A	CCDS4247.1	.	.	.	.	.	.	.	.	.	.	G	1.778	-0.482707	0.04383	2.27E-4	1.16E-4	ENSG00000113209	ENST00000537936	.	.	.	4.42	3.53	0.40419	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.1108	0.36725	0.0:0.1238:0.5504:0.3258	.	.	.	.	.	-1	.	.	.	+	.	.	PCDHB5	140496847	0.000000	0.05858	0.846000	0.33378	0.684000	0.39900	-2.485000	0.00979	0.968000	0.38212	0.194000	0.17425	.		0.721	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1		NM_015669		21	37	0	0	0	1	0	21	37		
PCDHGA7	56108	broad.mit.edu	37	5	140763490	140763490	+	Missense_Mutation	SNP	G	G	A	rs201582947		TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr5:140763490G>A	ENST00000518325.1	+	1	1024	c.1024G>A	c.(1024-1026)Gat>Aat	p.D342N	PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018920.2	NP_061743.1	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7	342	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGATGTAAATGATAATGCTCC	0.413																																						uc003lka.1		NaN																	0					0						c.(1024-1026)GAT>AAT		protocadherin gamma subfamily A, 7 isoform 1							93.0	94.0	94.0					5																	140763490		2007	4218	6225	SO:0001583	missense	56108				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140763490G>A	AF152514	CCDS54927.1, CCDS75336.1	5q31	2010-01-26				ENSG00000253537		"""Cadherins / Protocadherins : Clustered"""	8705	other	protocadherin		606294				10380929	Standard	NM_018920		Approved	PCDH-GAMMA-A7		Q9Y5G6		ENST00000518325.1:c.1024G>A	5.37:g.140763490G>A	ENSP00000430024:p.Asp342Asn					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003ljz.1_Missense_Mutation_p.D342N	p.D342N	NM_018920	NP_061743	Q9Y5G6	PCDG7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1024	+			342			Cadherin 3.|Extracellular (Potential).		B2RN87|Q9Y5D0	Missense_Mutation	SNP	ENST00000518325.1	37	c.1024G>A	CCDS54927.1	.	.	.	.	.	.	.	.	.	.	.	22.6	4.316566	0.81469	.	.	ENSG00000253537	ENST00000518325	T	0.75367	-0.93	5.15	5.15	0.70609	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	D	0.89332	0.6685	M	0.91818	3.245	0.42351	D	0.992375	P;D	0.89917	0.866;1.0	P;D	0.81914	0.696;0.995	D	0.91783	0.5437	9	0.87932	D	0	.	18.6117	0.91288	0.0:0.0:1.0:0.0	.	342;342	Q9Y5G6;Q9Y5G6-2	PCDG7_HUMAN;.	N	342	ENSP00000430024:D342N	ENSP00000430024:D342N	D	+	1	0	PCDHGA7	140743674	1.000000	0.71417	1.000000	0.80357	0.719000	0.41307	9.869000	0.99810	2.546000	0.85860	0.655000	0.94253	GAT		0.413	PCDHGA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374744.1		NM_018920		38	5	0	0	0	1	0	38	5		
PCDHGA7	56108	broad.mit.edu	37	5	140763541	140763541	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr5:140763541G>A	ENST00000518325.1	+	1	1075	c.1075G>A	c.(1075-1077)Gac>Aac	p.D359N	PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018920.2	NP_061743.1	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7	359	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATCCCTGAAGACACACCTCT	0.418																																						uc003lka.1		NaN																	0					0						c.(1075-1077)GAC>AAC		protocadherin gamma subfamily A, 7 isoform 1							60.0	59.0	59.0					5																	140763541		1972	4170	6142	SO:0001583	missense	56108				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140763541G>A	AF152514	CCDS54927.1, CCDS75336.1	5q31	2010-01-26				ENSG00000253537		"""Cadherins / Protocadherins : Clustered"""	8705	other	protocadherin		606294				10380929	Standard	NM_018920		Approved	PCDH-GAMMA-A7		Q9Y5G6		ENST00000518325.1:c.1075G>A	5.37:g.140763541G>A	ENSP00000430024:p.Asp359Asn					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003ljz.1_Missense_Mutation_p.D359N	p.D359N	NM_018920	NP_061743	Q9Y5G6	PCDG7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1075	+			359			Cadherin 4.|Extracellular (Potential).		B2RN87|Q9Y5D0	Missense_Mutation	SNP	ENST00000518325.1	37	c.1075G>A	CCDS54927.1	.	.	.	.	.	.	.	.	.	.	.	8.640	0.895671	0.17686	.	.	ENSG00000253537	ENST00000518325	T	0.56444	0.46	5.3	3.49	0.39957	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.30947	0.0781	N	0.05012	-0.13	0.23831	N	0.996729	B;B	0.11235	0.004;0.002	B;B	0.24269	0.052;0.005	T	0.18681	-1.0329	9	0.17832	T	0.49	.	11.125	0.48312	0.2113:0.0:0.7887:0.0	.	359;359	Q9Y5G6;Q9Y5G6-2	PCDG7_HUMAN;.	N	359	ENSP00000430024:D359N	ENSP00000430024:D359N	D	+	1	0	PCDHGA7	140743725	0.885000	0.30320	0.997000	0.53966	0.848000	0.48234	1.197000	0.32211	1.362000	0.46000	0.655000	0.94253	GAC		0.418	PCDHGA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374744.1		NM_018920		26	4	0	0	0	1	0	26	4		
SPINK5	11005	broad.mit.edu	37	5	147449904	147449904	+	Nonsense_Mutation	SNP	C	C	T	rs376417849		TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr5:147449904C>T	ENST00000256084.7	+	3	142	c.100C>T	c.(100-102)Cag>Tag	p.Q34*	SPINK5_ENST00000359874.3_Nonsense_Mutation_p.Q34*|SPINK5_ENST00000398454.1_Nonsense_Mutation_p.Q34*	NM_006846.3	NP_006837.2	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	34	Kazal-like 1; atypical. {ECO:0000255|PROSITE-ProRule:PRU00798}.				anagen (GO:0042640)|epidermal cell differentiation (GO:0009913)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|hair cell differentiation (GO:0035315)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of proteolysis (GO:0045861)|negative regulation of serine-type peptidase activity (GO:1902572)|regulation of cell adhesion (GO:0030155)|regulation of T cell differentiation (GO:0045580)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|epidermal lamellar body (GO:0097209)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCATGAATTTCAGGCATTTAT	0.303																																						uc003lox.2		NaN																	0				skin(2)|ovary(1)|breast(1)	4						c.(100-102)CAG>TAG		serine peptidase inhibitor, Kazal type 5 isoform							62.0	60.0	61.0					5																	147449904		1818	4070	5888	SO:0001587	stop_gained	11005				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity	g.chr5:147449904C>T	AJ228139	CCDS43382.1, CCDS47300.1, CCDS47301.1	5q31-q32	2014-09-17	2005-08-17		ENSG00000133710	ENSG00000133710		"""Serine peptidase inhibitors, Kazal type"""	15464	protein-coding gene	gene with protein product	"""lymphoepithelial Kazal-type-related inhibitor"""	605010	"""serine protease inhibitor, Kazal type 5"""			10419450	Standard	NM_001127698		Approved	VAKTI, LEKTI, LETKI, NETS, NS, FLJ21544, FLJ97536, FLJ97596, FLJ99794, DKFZp686K19184	uc003loy.2	Q9NQ38	OTTHUMG00000134305	ENST00000256084.7:c.100C>T	5.37:g.147449904C>T	ENSP00000256084:p.Gln34*					SPINK5_uc010jgq.1_RNA|SPINK5_uc010jgs.1_Nonsense_Mutation_p.Q6*|SPINK5_uc010jgr.2_Intron|SPINK5_uc003low.2_Nonsense_Mutation_p.Q34*|SPINK5_uc003loy.2_Nonsense_Mutation_p.Q34*	p.Q34*	NM_006846	NP_006837	Q9NQ38	ISK5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	173	+			34			Kazal-like 1; atypical.		A8MYE8|B7WPB7|D6REN5|O75770|Q3LX95|Q3LX96|Q3LX97|Q96PP2|Q96PP3	Nonsense_Mutation	SNP	ENST00000256084.7	37	c.100C>T	CCDS43382.1	.	.	.	.	.	.	.	.	.	.	C	14.31	2.496141	0.44352	.	.	ENSG00000133710	ENST00000398454;ENST00000359874;ENST00000256084	.	.	.	5.33	1.32	0.21799	.	0.879145	0.09493	N	0.794676	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-0.7365	12.9941	0.58635	0.5935:0.4065:0.0:0.0	.	.	.	.	X	34	.	ENSP00000256084:Q34X	Q	+	1	0	SPINK5	147430097	0.763000	0.28462	0.003000	0.11579	0.048000	0.14542	0.768000	0.26590	0.098000	0.17522	-0.284000	0.09977	CAG		0.303	SPINK5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000259215.2		NM_001127698		29	4	0	0	0	1	0	29	4		
IL17B	27190	broad.mit.edu	37	5	148754083	148754083	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr5:148754083G>A	ENST00000261796.3	-	3	442	c.392C>T	c.(391-393)aCc>aTc	p.T131I	IL17B_ENST00000505432.1_5'UTR|RP11-394O4.3_ENST00000521756.1_RNA	NM_014443.2	NP_055258.1	Q9UHF5	IL17B_HUMAN	interleukin 17B	131					cell-cell signaling (GO:0007267)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)|urinary_tract(1)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCCTGCATGGTGAAGGGGTT	0.682																																						uc003lqo.2		NaN																	0				central_nervous_system(1)	1						c.(391-393)ACC>ATC		interleukin 17B precursor							37.0	37.0	37.0					5																	148754083		2203	4299	6502	SO:0001583	missense	27190				cell-cell signaling|immune response|inflammatory response	extracellular space	cytokine activity|signal transducer activity	g.chr5:148754083G>A	AF184969	CCDS4297.1	5q33.1	2011-07-14			ENSG00000127743	ENSG00000127743		"""Interleukins and interleukin receptors"""	5982	protein-coding gene	gene with protein product	"""neuronal interleukin-17-related factor"""	604627				10639155	Standard	NM_014443		Approved	IL-17B, ZCYTO7, IL-20, MGC138900, MGC138901, NIRF	uc003lqo.3	Q9UHF5	OTTHUMG00000130051	ENST00000261796.3:c.392C>T	5.37:g.148754083G>A	ENSP00000261796:p.Thr131Ile						p.T131I	NM_014443	NP_055258	Q9UHF5	IL17B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	442	-			131					Q14CE5	Missense_Mutation	SNP	ENST00000261796.3	37	c.392C>T	CCDS4297.1	.	.	.	.	.	.	.	.	.	.	G	16.69	3.194127	0.58017	.	.	ENSG00000127743	ENST00000261796	T	0.56776	0.44	5.2	5.2	0.72013	.	0.000000	0.64402	D	0.000001	T	0.70937	0.3281	M	0.73962	2.25	0.43522	D	0.995795	D	0.76494	0.999	D	0.72982	0.979	T	0.69752	-0.5060	10	0.33940	T	0.23	-8.6061	15.8433	0.78868	0.0:0.1355:0.8645:0.0	.	131	Q9UHF5	IL17B_HUMAN	I	131	ENSP00000261796:T131I	ENSP00000261796:T131I	T	-	2	0	IL17B	148734276	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.662000	0.61525	2.423000	0.82170	0.561000	0.74099	ACC		0.682	IL17B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252330.1		NM_014443		18	17	0	0	0	1	0	18	17		
SLC36A3	285641	broad.mit.edu	37	5	150660605	150660605	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr5:150660605A>G	ENST00000335230.3	-	9	1525	c.1114T>C	c.(1114-1116)Tct>Cct	p.S372P	SLC36A3_ENST00000377713.3_Missense_Mutation_p.S413P	NM_181774.3	NP_861439.3	Q495N2	S36A3_HUMAN	solute carrier family 36, member 3	372						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	21		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAGCGGACAGACAGGTCTACA	0.552																																						uc003ltw.2		NaN																	0				ovary(2)|skin(1)	3						c.(1114-1116)TCT>CCT		solute carrier family 36, member 3 isoform 2							156.0	130.0	139.0					5																	150660605		2203	4300	6503	SO:0001583	missense	285641					integral to membrane		g.chr5:150660605A>G	AY162215	CCDS4314.1, CCDS47316.1	5q33.1	2013-07-17	2013-07-17		ENSG00000186334	ENSG00000186334		"""Solute carriers"""	19659	protein-coding gene	gene with protein product		608332				12809675	Standard	NM_181774		Approved	PAT3, TRAMD2, tramdorin2	uc003ltw.2	Q495N2	OTTHUMG00000130128	ENST00000335230.3:c.1114T>C	5.37:g.150660605A>G	ENSP00000334750:p.Ser372Pro					GM2A_uc011dcs.1_Intron|SLC36A3_uc003ltv.2_Missense_Mutation_p.S357P|SLC36A3_uc003ltx.2_Missense_Mutation_p.S413P	p.S372P	NM_181774	NP_861439	Q495N2	S36A3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	1533	-		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	372			Helical; (Potential).		Q495N3|Q6ZMU7|Q6ZRU4|Q7Z6B4	Missense_Mutation	SNP	ENST00000335230.3	37	c.1114T>C	CCDS4314.1	.	.	.	.	.	.	.	.	.	.	A	15.26	2.781304	0.49891	.	.	ENSG00000186334	ENST00000335230;ENST00000377713	T;T	0.02280	4.36;4.36	4.06	2.85	0.33270	.	0.594872	0.17771	N	0.162589	T	0.06142	0.0159	M	0.77103	2.36	0.34309	D	0.685272	P;P;P	0.49358	0.82;0.923;0.82	P;P;P	0.53266	0.6;0.722;0.6	T	0.22871	-1.0204	10	0.49607	T	0.09	.	2.6176	0.04907	0.4284:0.0:0.1385:0.4331	.	413;372;357	Q495N2-3;Q495N2;Q495N2-2	.;S36A3_HUMAN;.	P	372;413	ENSP00000334750:S372P;ENSP00000366942:S413P	ENSP00000334750:S372P	S	-	1	0	SLC36A3	150640798	0.994000	0.37717	1.000000	0.80357	0.996000	0.88848	0.650000	0.24858	0.669000	0.31146	0.459000	0.35465	TCT		0.552	SLC36A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252436.1		NM_181774		19	23	0	0	0	1	0	19	23		
GEMIN5	25929	broad.mit.edu	37	5	154268890	154268890	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr5:154268890C>G	ENST00000285873.7	-	27	4425	c.4350G>C	c.(4348-4350)gaG>gaC	p.E1450D		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	1450					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|protein complex assembly (GO:0006461)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)	poly(A) RNA binding (GO:0044822)|snRNA binding (GO:0017069)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CCTTAATGCTCTCAGGAAATT	0.368																																						uc003lvx.3		NaN																	0				skin(2)|ovary(1)	3						c.(4348-4350)GAG>GAC		gemin 5							126.0	118.0	120.0					5																	154268890		2203	4300	6503	SO:0001583	missense	25929				ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding	g.chr5:154268890C>G	AK022748	CCDS4330.1	5q34	2013-01-10			ENSG00000082516	ENSG00000082516		"""WD repeat domain containing"""	20043	protein-coding gene	gene with protein product		607005				11714716	Standard	NM_015465		Approved		uc003lvx.3	Q8TEQ6	OTTHUMG00000130189	ENST00000285873.7:c.4350G>C	5.37:g.154268890C>G	ENSP00000285873:p.Glu1450Asp					GEMIN5_uc011ddk.1_Missense_Mutation_p.E1449D	p.E1450D	NM_015465	NP_056280	Q8TEQ6	GEMI5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		27	4433	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	1450					Q14CV0|Q8WWV4|Q969W4|Q9H9K3|Q9UFI5	Missense_Mutation	SNP	ENST00000285873.7	37	c.4350G>C	CCDS4330.1	.	.	.	.	.	.	.	.	.	.	C	11.28	1.592937	0.28357	.	.	ENSG00000082516	ENST00000285873	T	0.75154	-0.91	5.91	4.14	0.48551	.	0.171081	0.49916	D	0.000136	T	0.64472	0.2601	L	0.50333	1.59	0.34974	D	0.753394	B;B	0.18461	0.028;0.028	B;B	0.16289	0.015;0.015	T	0.66329	-0.5951	10	0.35671	T	0.21	-22.8113	6.9892	0.24745	0.0:0.7003:0.1448:0.1549	.	1449;1450	B7ZLC9;Q8TEQ6	.;GEMI5_HUMAN	D	1450	ENSP00000285873:E1450D	ENSP00000285873:E1450D	E	-	3	2	GEMIN5	154249083	0.998000	0.40836	1.000000	0.80357	0.451000	0.32288	0.945000	0.29056	1.514000	0.48869	0.650000	0.86243	GAG		0.368	GEMIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252507.1				13	16	0	0	0	1	0	13	16		
ITK	3702	broad.mit.edu	37	5	156659373	156659373	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr5:156659373G>A	ENST00000422843.3	+	8	889	c.737G>A	c.(736-738)cGa>cAa	p.R246Q	AC010609.1_ENST00000410154.1_RNA	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	246	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cellular defense response (GO:0006968)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|intracellular signal transduction (GO:0035556)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		Pazopanib(DB06589)	AGTATCAGCCGAGACAAAGCT	0.323			T	SYK	peripheral T-cell lymphoma																																Esophageal Squamous(70;1378 1469 8785 19883)	uc003lwo.1		NaN		Dom	yes		5	5q31-q32	3702	T	IL2-inducible T-cell kinase			L	SYK		peripheral T-cell lymphoma		0				lung(12)|ovary(8)|skin(4)|stomach(1)|central_nervous_system(1)	26						c.(736-738)CGA>CAA		IL2-inducible T-cell kinase							61.0	58.0	59.0					5																	156659373		2203	4300	6503	SO:0001583	missense	3702				cellular defense response|intracellular signal transduction|T cell receptor signaling pathway	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr5:156659373G>A	D13720	CCDS4336.1	5q31-q32	2014-09-17			ENSG00000113263	ENSG00000113263		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	6171	protein-coding gene	gene with protein product		186973				8364206	Standard	NM_005546		Approved	EMT, PSCTK2, LYK	uc003lwo.1	Q08881	OTTHUMG00000130245	ENST00000422843.3:c.737G>A	5.37:g.156659373G>A	ENSP00000398655:p.Arg246Gln						p.R246Q	NM_005546	NP_005537	Q08881	ITK_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		8	819	+	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	246			SH2.		B2R752|Q32ML7	Missense_Mutation	SNP	ENST00000422843.3	37	c.737G>A	CCDS4336.1	.	.	.	.	.	.	.	.	.	.	G	34	5.335143	0.95758	.	.	ENSG00000113263	ENST00000422843	D	0.92805	-3.11	5.28	5.28	0.74379	Src homology-3 domain (1);SH2 motif (5);	0.000000	0.85682	D	0.000000	D	0.97508	0.9184	H	0.98525	4.255	0.51012	D	0.999906	D	0.76494	0.999	P	0.61533	0.89	D	0.98920	1.0783	10	0.87932	D	0	.	17.0459	0.86502	0.0:0.0:1.0:0.0	.	246	Q08881	ITK_HUMAN	Q	246	ENSP00000398655:R246Q	ENSP00000398655:R246Q	R	+	2	0	ITK	156591951	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.695000	0.74593	2.629000	0.89072	0.563000	0.77884	CGA		0.323	ITK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252569.2				16	1	0	0	0	1	0	16	1		
STK10	6793	broad.mit.edu	37	5	171544538	171544538	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr5:171544538C>T	ENST00000176763.5	-	4	810	c.467G>A	c.(466-468)cGa>cAa	p.R156Q		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	156	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|lymphocyte aggregation (GO:0071593)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of lymphocyte migration (GO:2000401)|signal transduction by phosphorylation (GO:0023014)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|polo kinase kinase activity (GO:0042801)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TTTCAGATCTCGGTGGATGAT	0.597																																						uc003mbo.1		NaN																	0				ovary(3)|lung(2)|testis(1)|breast(1)|pancreas(1)	8						c.(466-468)CGA>CAA		serine/threonine kinase 10							107.0	90.0	96.0					5																	171544538		2203	4300	6503	SO:0001583	missense	6793						ATP binding|protein serine/threonine kinase activity	g.chr5:171544538C>T	AB015718	CCDS34290.1	5q35.1	2008-07-18			ENSG00000072786	ENSG00000072786			11388	protein-coding gene	gene with protein product		603919				10199912	Standard	NM_005990		Approved	LOK, PRO2729	uc003mbo.1	O94804	OTTHUMG00000163265	ENST00000176763.5:c.467G>A	5.37:g.171544538C>T	ENSP00000176763:p.Arg156Gln						p.R156Q	NM_005990	NP_005981	O94804	STK10_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		4	767	-	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	156			Protein kinase.		A6ND35|B2R8F5|B3KMY1|Q6NSK0|Q9UIW4	Missense_Mutation	SNP	ENST00000176763.5	37	c.467G>A	CCDS34290.1	.	.	.	.	.	.	.	.	.	.	C	36	5.704819	0.96812	.	.	ENSG00000072786	ENST00000176763;ENST00000545839	T	0.29655	1.56	5.59	5.59	0.84812	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.68118	0.2966	H	0.95114	3.625	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	T	0.78370	-0.2230	10	0.87932	D	0	.	17.083	0.86603	0.0:1.0:0.0:0.0	.	156	O94804	STK10_HUMAN	Q	156	ENSP00000176763:R156Q	ENSP00000176763:R156Q	R	-	2	0	STK10	171477143	1.000000	0.71417	0.920000	0.36463	0.959000	0.62525	7.818000	0.86416	2.619000	0.88677	0.563000	0.77884	CGA		0.597	STK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372374.2		NM_005990		16	19	0	0	0	1	0	16	19		
UNC5A	90249	broad.mit.edu	37	5	176304229	176304229	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr5:176304229G>T	ENST00000329542.4	+	9	1689	c.1415G>T	c.(1414-1416)cGa>cTa	p.R472L	UNC5A_ENST00000261961.3_Missense_Mutation_p.R432L	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	472	ZU5. {ECO:0000255|PROSITE- ProRule:PRU00485}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCCATACCCCGAGGGAAGATC	0.637																																						uc003mey.2		NaN																	0				skin(1)	1						c.(1414-1416)CGA>CTA		netrin receptor Unc5h1 precursor							73.0	71.0	72.0					5																	176304229		2203	4300	6503	SO:0001583	missense	90249				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane		g.chr5:176304229G>T	AB075856	CCDS34299.1	5q35.3	2013-01-11	2001-11-28		ENSG00000113763	ENSG00000113763		"""Immunoglobulin superfamily / I-set domain containing"""	12567	protein-coding gene	gene with protein product		607869	"""unc5 (C.elegans homolog) a"""				Standard	XM_006714927		Approved	KIAA1976, UNC5H1	uc003mey.3	Q6ZN44	OTTHUMG00000163225	ENST00000329542.4:c.1415G>T	5.37:g.176304229G>T	ENSP00000332737:p.Arg472Leu						p.R472L	NM_133369	NP_588610	Q6ZN44	UNC5A_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		9	1607	+	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	472			ZU5.|Cytoplasmic (Potential).		B2RXE6|Q8TF26|Q96GP4	Missense_Mutation	SNP	ENST00000329542.4	37	c.1415G>T	CCDS34299.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.732559	0.89482	.	.	ENSG00000113763	ENST00000329542;ENST00000261961	T;T	0.43294	0.95;0.95	5.32	5.32	0.75619	ZU5 (3);	0.000000	0.64402	D	0.000001	T	0.60196	0.2250	L	0.52364	1.645	0.49687	D	0.999812	D	0.65815	0.995	D	0.68621	0.959	T	0.62072	-0.6931	10	0.72032	D	0.01	-16.2554	18.5781	0.91162	0.0:0.0:1.0:0.0	.	472	Q6ZN44	UNC5A_HUMAN	L	472;432	ENSP00000332737:R472L;ENSP00000261961:R432L	ENSP00000261961:R432L	R	+	2	0	UNC5A	176236835	0.989000	0.36119	0.997000	0.53966	0.993000	0.82548	3.151000	0.50670	2.496000	0.84212	0.484000	0.47621	CGA		0.637	UNC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372166.1		XM_030300		29	2	1	0	7.26314e-15	1	7.98553e-15	29	2		
MAPK9	5601	broad.mit.edu	37	5	179707519	179707519	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr5:179707519C>G	ENST00000452135.2	-	2	341	c.43G>C	c.(43-45)Gtg>Ctg	p.V15L	MAPK9_ENST00000425491.2_Missense_Mutation_p.V15L|MAPK9_ENST00000397072.3_Missense_Mutation_p.V15L|MAPK9_ENST00000455781.1_Missense_Mutation_p.V15L|MAPK9_ENST00000539014.1_Missense_Mutation_p.V15L|MAPK9_ENST00000347470.4_Missense_Mutation_p.V15L|MAPK9_ENST00000393360.3_Missense_Mutation_p.V15L|MAPK9_ENST00000343111.6_Missense_Mutation_p.V15L			P45984	MK09_HUMAN	mitogen-activated protein kinase 9	15					cellular response to growth factor stimulus (GO:0071363)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV (GO:0034644)|central nervous system development (GO:0007417)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neuron projection development (GO:0031175)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell morphogenesis involved in differentiation (GO:0010770)|positive regulation of chemokine production (GO:0032722)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of prostaglandin secretion (GO:0032308)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription, DNA-templated (GO:0045893)|protein targeting to mitochondrion (GO:0006626)|regulation of JNK cascade (GO:0046328)|regulation of protein ubiquitination (GO:0031396)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|release of cytochrome c from mitochondria (GO:0001836)|response to amine (GO:0014075)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|response to stress (GO:0006950)|response to toxic substance (GO:0009636)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|JUN kinase activity (GO:0004705)|transcription factor binding (GO:0008134)			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAGTCTGCCACTTGCACACTA	0.458																																						uc003mls.3		NaN																	0				central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)	4						c.(43-45)GTG>CTG		mitogen-activated protein kinase 9 isoform JNK2							147.0	137.0	140.0					5																	179707519		2203	4300	6503	SO:0001583	missense	5601				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|protein binding|protein binding	g.chr5:179707519C>G	U09759	CCDS4453.1, CCDS4454.1, CCDS43409.1, CCDS43410.1, CCDS47356.1	5q35	2011-06-09			ENSG00000050748	ENSG00000050748	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6886	protein-coding gene	gene with protein product	"""Jun kinase"""	602896		PRKM9		8001819	Standard	NM_002752		Approved	JNK2, p54a, SAPK	uc003mls.4	P45984	OTTHUMG00000130934	ENST00000452135.2:c.43G>C	5.37:g.179707519C>G	ENSP00000394560:p.Val15Leu					MAPK9_uc003mlt.3_Missense_Mutation_p.V15L|MAPK9_uc010jlc.2_Missense_Mutation_p.V15L|MAPK9_uc003mlv.3_Missense_Mutation_p.V15L|MAPK9_uc011dgx.1_Missense_Mutation_p.V15L	p.V15L	NM_002752	NP_002743	P45984	MK09_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	314	-	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	15					A8K0S3|B5BU66|B5M0B4|D3DWQ8|D3DWQ9|Q15708|Q15710|Q15711|Q8N5C5	Missense_Mutation	SNP	ENST00000452135.2	37	c.43G>C	CCDS4453.1	.	.	.	.	.	.	.	.	.	.	C	12.40	1.926133	0.34002	.	.	ENSG00000050748	ENST00000452135;ENST00000393360;ENST00000455781;ENST00000343111;ENST00000347470;ENST00000397072;ENST00000425491;ENST00000539014;ENST00000523583	D;D;D;D;D;T;D;D;D	0.82344	-1.6;-1.6;-1.6;-1.6;-1.6;-0.68;-1.6;-1.6;-1.6	5.33	4.47	0.54385	Protein kinase-like domain (1);	0.070116	0.56097	D	0.000025	T	0.71609	0.3360	N	0.21448	0.665	0.80722	D	1	B;B;B;B;B	0.22080	0.037;0.064;0.029;0.064;0.008	B;B;B;B;B	0.29598	0.058;0.104;0.066;0.104;0.009	T	0.63492	-0.6625	9	.	.	.	-15.7484	9.8975	0.41327	0.0:0.8466:0.0:0.1534	.	15;15;15;15;15	P45984-5;P45984-4;P45984-3;P45984-2;P45984	.;.;.;.;MK09_HUMAN	L	15	ENSP00000394560:V15L;ENSP00000377028:V15L;ENSP00000389338:V15L;ENSP00000345524:V15L;ENSP00000321410:V15L;ENSP00000380262:V15L;ENSP00000397422:V15L;ENSP00000443149:V15L;ENSP00000430608:V15L	.	V	-	1	0	MAPK9	179640125	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	5.990000	0.70595	1.251000	0.43983	0.655000	0.94253	GTG		0.458	MAPK9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253530.3				8	43	0	0	0	1	0	8	43		
ACOT13	55856	broad.mit.edu	37	6	24667557	24667557	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr6:24667557G>C	ENST00000230048.4	+	1	259	c.66G>C	c.(64-66)gaG>gaC	p.E22D	TDP2_ENST00000378198.4_5'Flank|ACOT13_ENST00000537591.1_5'UTR|TDP2_ENST00000545995.1_5'Flank|TDP2_ENST00000341060.3_5'Flank	NM_018473.3	NP_060943.1	Q9NPJ3	ACO13_HUMAN	acyl-CoA thioesterase 13	22					metabolic process (GO:0008152)|protein homotetramerization (GO:0051289)	cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA hydrolase activity (GO:0047617)			large_intestine(1)	1						GCAATTTTGAGAGAGTTTTGG	0.502											OREG0017230	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003nek.2		NaN																	0					0						c.(64-66)GAG>GAC		acyl-CoA thioesterase 13 isoform 1							96.0	91.0	93.0					6																	24667557		2203	4300	6503	SO:0001583	missense	55856				protein homotetramerization	mitochondrion	acyl-CoA thioesterase activity	g.chr6:24667557G>C	AF220186	CCDS4558.1, CCDS54972.1	6p22.1	2009-11-20	2009-05-05	2009-05-05	ENSG00000112304	ENSG00000112304		"""Acyl CoA thioesterases"""	20999	protein-coding gene	gene with protein product		615652	"""thioesterase superfamily member 2"""	THEM2		16934754, 19405909	Standard	NM_018473		Approved	HT012	uc003nek.3	Q9NPJ3	OTTHUMG00000014359	ENST00000230048.4:c.66G>C	6.37:g.24667557G>C	ENSP00000230048:p.Glu22Asp		OREG0017230	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	773	TDP2_uc003nei.2_5'Flank|TDP2_uc003nej.2_5'Flank|TDP2_uc010jpu.1_5'Flank|ACOT13_uc010jpv.2_5'UTR	p.E22D	NM_018473	NP_060943	Q9NPJ3	ACO13_HUMAN			1	295	+			22					F5H2L4|O95549	Missense_Mutation	SNP	ENST00000230048.4	37	c.66G>C	CCDS4558.1	.	.	.	.	.	.	.	.	.	.	G	0.022	-1.416856	0.01136	.	.	ENSG00000112304	ENST00000230048	.	.	.	5.11	-8.42	0.00957	.	0.061203	0.64402	N	0.000006	T	0.02193	0.0068	N	0.00303	-1.675	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37842	-0.9688	9	0.02654	T	1	-8.7602	7.8113	0.29232	0.0:0.4088:0.2151:0.3761	.	22	Q9NPJ3	ACO13_HUMAN	D	22	.	ENSP00000230048:E22D	E	+	3	2	ACOT13	24775536	0.820000	0.29190	0.025000	0.17156	0.021000	0.10359	-0.768000	0.04715	-1.811000	0.01229	-1.152000	0.01820	GAG		0.502	ACOT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040010.2		NM_018473		13	29	0	0	0	1	0	13	29		
FAM65B	9750	broad.mit.edu	37	6	24843425	24843425	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr6:24843425C>G	ENST00000259698.4	-	14	1760	c.1585G>C	c.(1585-1587)Gag>Cag	p.E529Q	FAM65B_ENST00000473070.1_5'Flank|FAM65B_ENST00000378023.4_Missense_Mutation_p.E479Q|FAM65B_ENST00000510784.2_Missense_Mutation_p.E513Q|FAM65B_ENST00000538035.1_Missense_Mutation_p.E508Q|FAM65B_ENST00000540914.1_Missense_Mutation_p.E479Q	NM_014722.2	NP_055537.2	Q9Y4F9	FA65B_HUMAN	family with sequence similarity 65, member B	529					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)		p.E479Q(1)|p.E529Q(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						AACAGGTGCTCAGCCCCAGCA	0.572																																						uc003neo.1		NaN																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1585-1587)GAG>CAG		hypothetical protein LOC9750 isoform 1							88.0	89.0	89.0					6																	24843425		1921	4120	6041	SO:0001583	missense	9750				cell differentiation|muscle organ development	cytoskeleton|filopodium|mitochondrion	binding	g.chr6:24843425C>G	U49187	CCDS47383.1, CCDS47384.1, CCDS69057.1, CCDS69058.1, CCDS75410.1	6p22.3-p21.32	2012-11-30	2008-06-13	2008-06-13	ENSG00000111913	ENSG00000111913			13872	protein-coding gene	gene with protein product	"""myogenesis-related and NCAM-associated protein homolog (chicken)"""	611410	"""chromosome 6 open reading frame 32"""	C6orf32		9205841, 17150207, 17825087	Standard	NM_001286447		Approved	KIAA0386, DIFF48, MYONAP	uc003neo.1	Q9Y4F9	OTTHUMG00000014375	ENST00000259698.4:c.1585G>C	6.37:g.24843425C>G	ENSP00000259698:p.Glu529Gln					FAM65B_uc011djs.1_Missense_Mutation_p.E508Q|FAM65B_uc011dju.1_Missense_Mutation_p.E513Q|FAM65B_uc003nep.2_Missense_Mutation_p.E479Q|FAM65B_uc011djt.1_Missense_Mutation_p.E479Q	p.E529Q	NM_014722	NP_055537	Q9Y4F9	FA65B_HUMAN			14	1761	-			529					A6NHP2|Q13529|Q5VV37|Q5VV38|Q9BQ28	Missense_Mutation	SNP	ENST00000259698.4	37	c.1585G>C	CCDS47383.1	.	.	.	.	.	.	.	.	.	.	C	15.06	2.721321	0.48728	.	.	ENSG00000111913	ENST00000259698;ENST00000538035;ENST00000378023;ENST00000540914;ENST00000510784	T;T;T;T;T	0.35048	1.33;1.33;1.33;1.33;1.33	4.34	2.56	0.30785	.	0.871134	0.10323	N	0.688555	T	0.11793	0.0287	L	0.43152	1.355	0.09310	N	1	P;B;B;B	0.35348	0.496;0.098;0.216;0.191	B;B;B;B	0.31191	0.125;0.08;0.08;0.068	T	0.16600	-1.0397	10	0.42905	T	0.14	-1.5405	7.1676	0.25700	0.0:0.6507:0.0:0.3493	.	513;508;479;529	B7Z6U4;F5GX51;Q9Y4F9-2;Q9Y4F9	.;.;.;FA65B_HUMAN	Q	529;508;479;479;513	ENSP00000259698:E529Q;ENSP00000441138:E508Q;ENSP00000367262:E479Q;ENSP00000438425:E479Q;ENSP00000441305:E513Q	ENSP00000259698:E529Q	E	-	1	0	FAM65B	24951404	0.000000	0.05858	0.001000	0.08648	0.864000	0.49448	-0.032000	0.12266	0.469000	0.27268	0.655000	0.94253	GAG		0.572	FAM65B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040024.2				18	68	0	0	0	1	0	18	68		
LRRC16A	55604	broad.mit.edu	37	6	25581557	25581557	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr6:25581557C>T	ENST00000329474.6	+	31	3264	c.2896C>T	c.(2896-2898)Cgg>Tgg	p.R966W		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	966	Inhibits capping activity of CAPZA2. {ECO:0000250}.				actin filament organization (GO:0007015)|barbed-end actin filament uncapping (GO:0051638)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|lamellipodium assembly (GO:0030032)|negative regulation of barbed-end actin filament capping (GO:2000813)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of lamellipodium organization (GO:1902745)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|ruffle organization (GO:0031529)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|lamellipodium (GO:0030027)|nucleus (GO:0005634)	protein complex binding (GO:0032403)	p.R966W(1)		breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						ACAGGAGAAGCGGAGCTCGGG	0.463																																						uc011djw.1		NaN																	1	Substitution - Missense(1)		large_intestine(1)	ovary(1)|breast(1)|central_nervous_system(1)|pancreas(1)	4						c.(2896-2898)CGG>TGG		leucine rich repeat containing 16A							39.0	41.0	40.0					6																	25581557		1834	4087	5921	SO:0001583	missense	55604				actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus		g.chr6:25581557C>T	AK000055	CCDS54973.1	6p22.1	2010-09-10	2008-02-12	2008-02-12	ENSG00000079691	ENSG00000079691			21581	protein-coding gene	gene with protein product	"""capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)"""	609593	"""leucine rich repeat containing 16"""	LRRC16		19846667	Standard	NM_017640		Approved	dJ501N12.1, FLJ20048, CARMIL, CARMIL1	uc011djw.2	Q5VZK9	OTTHUMG00000014393	ENST00000329474.6:c.2896C>T	6.37:g.25581557C>T	ENSP00000331983:p.Arg966Trp					LRRC16A_uc010jpx.2_Missense_Mutation_p.R966W|LRRC16A_uc010jpy.2_Missense_Mutation_p.R966W	p.R966W	NM_017640	NP_060110	Q5VZK9	LR16A_HUMAN			31	3272	+			966			LRR 11.|Inhibits capping activity of CAPZA2 (By similarity).		B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7	Missense_Mutation	SNP	ENST00000329474.6	37	c.2896C>T	CCDS54973.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.022843	0.75275	.	.	ENSG00000079691	ENST00000329474;ENST00000399313	T	0.48201	0.82	5.76	2.64	0.31445	.	0.151648	0.39985	N	0.001216	T	0.56978	0.2022	M	0.65975	2.015	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.73708	0.958;0.958;0.981	T	0.65656	-0.6115	10	0.72032	D	0.01	.	15.9115	0.79477	0.3924:0.6076:0.0:0.0	.	966;966;966	Q5VZK9;B2RTQ5;Q5VZK9-2	LR16A_HUMAN;.;.	W	966	ENSP00000331983:R966W	ENSP00000331983:R966W	R	+	1	2	LRRC16A	25689536	0.993000	0.37304	0.973000	0.42090	0.919000	0.55068	0.824000	0.27379	0.721000	0.32231	0.563000	0.77884	CGG		0.463	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040045.2		NM_017640		15	5	0	0	0	1	0	15	5		
DHX16	8449	broad.mit.edu	37	6	30624524	30624524	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr6:30624524G>C	ENST00000376442.3	-	14	2356	c.2161C>G	c.(2161-2163)Cag>Gag	p.Q721E	DHX16_ENST00000480966.1_5'Flank|DHX16_ENST00000376437.5_Missense_Mutation_p.Q240E	NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	721	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			kidney(2)|ovary(2)	4						CCAGCTCGCTGATTGGCTGAG	0.542																																						uc003nqz.2		NaN																	0				ovary(2)|kidney(2)	4						c.(2161-2163)CAG>GAG		DEAH (Asp-Glu-Ala-His) box polypeptide 16							55.0	58.0	57.0					6																	30624524		1510	2707	4217	SO:0001583	missense	8449				mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity	g.chr6:30624524G>C	AB001601	CCDS4685.1	6p21.3	2010-02-17	2003-06-13	2003-06-20	ENSG00000204560	ENSG00000204560		"""DEAH-boxes"""	2739	protein-coding gene	gene with protein product		603405	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 16"""	DDX16		9547260	Standard	NM_003587		Approved	DBP2, Prp2, PRPF2	uc003nqz.3	O60231	OTTHUMG00000031060	ENST00000376442.3:c.2161C>G	6.37:g.30624524G>C	ENSP00000365625:p.Gln721Glu					DHX16_uc003nqy.2_Missense_Mutation_p.Q240E|DHX16_uc011dmo.1_Missense_Mutation_p.Q661E	p.Q721E	NM_003587	NP_003578	O60231	DHX16_HUMAN			14	2373	-			721			Helicase C-terminal.		O60322|Q5JP45|Q969X7|Q96QC1	Missense_Mutation	SNP	ENST00000376442.3	37	c.2161C>G	CCDS4685.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.682626	0.88542	.	.	ENSG00000204560	ENST00000376442;ENST00000376437	D;D	0.86097	-2.07;-2.07	5.21	5.21	0.72293	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.96775	0.8947	H	0.99974	5.145	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.79108	0.985;0.992;0.933	D	0.98643	1.0676	10	0.87932	D	0	.	17.6941	0.88276	0.0:0.0:1.0:0.0	.	661;721;240	B4DZ28;O60231;Q5SQH5	.;DHX16_HUMAN;.	E	721;240	ENSP00000365625:Q721E;ENSP00000365620:Q240E	ENSP00000365620:Q240E	Q	-	1	0	DHX16	30732503	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.346000	0.97056	2.712000	0.92718	0.561000	0.74099	CAG		0.542	DHX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076076.2		NM_003587		18	50	0	0	0	1	0	18	50		
HLA-C	3107	broad.mit.edu	37	6	31237268	31237268	+	Splice_Site	SNP	A	A	C	rs1130863|rs111308207		TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr6:31237268A>C	ENST00000376228.5	-	6	1063		c.e6+1		HLA-C_ENST00000383329.3_Splice_Site	NM_002117.5	NP_002108.4	Q95604	1C17_HUMAN	major histocompatibility complex, class I, C						antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						GCCATCACTTACACGCAGCCT	0.557																																						uc003nsy.2		NaN																	0					0						c.e6+1		major histocompatibility complex, class I, C							62.0	66.0	65.0					6																	31237268		2203	4300	6503	SO:0001630	splice_region_variant	3107				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex		g.chr6:31237268A>C	M11886	CCDS34393.1	6p21.3	2014-01-30			ENSG00000204525	ENSG00000204525		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4933	protein-coding gene	gene with protein product		142840	"""psoriasis susceptibility 1"""	HLA-JY3, D6S204, PSORS1		3863816, 16642438	Standard	NM_001243042		Approved		uc003nsy.3	P04222	OTTHUMG00000031154	ENST00000376228.5:c.1048+1T>G	6.37:g.31237268A>C						HLA-C_uc011dnj.1_Splice_Site_p.C322_splice|HLA-C_uc003nsx.2_Splice_Site_p.C229_splice|HLA-C_uc003nsz.2_Splice_Site_p.C356_splice|HLA-C_uc010jsl.2_Intron|HLA-C_uc003nta.2_Splice_Site_p.S350_splice|HLA-C_uc003ntb.2_Splice_Site|HLA-C_uc003ntc.1_Intron|HLA-B_uc010jsm.1_Splice_Site	p.C350_splice	NM_002117	NP_002108	Q9TNN7	1C05_HUMAN			6	1055	-								O02864|O02958|Q29643|Q9MY30	Splice_Site	SNP	ENST00000376228.5	37	c.1048_splice	CCDS34393.1	.	.	.	.	.	.	.	.	.	.	A	4.062	0.009341	0.07912	.	.	ENSG00000204525	ENST00000376228;ENST00000383329;ENST00000539307	.	.	.	2.82	0.317	0.15861	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.1036	0.14772	0.7591:0.0:0.2409:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HLA-C	31345247	0.076000	0.21285	0.001000	0.08648	0.029000	0.11900	2.666000	0.46799	0.069000	0.16605	0.248000	0.18094	.		0.557	HLA-C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076281.3		NM_002117	Intron	5	14	0	0	0	1	0	5	14		
TEAD3	7005	broad.mit.edu	37	6	35443426	35443426	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr6:35443426G>A	ENST00000402886.3	-	9	931	c.778C>T	c.(778-780)Cag>Tag	p.Q260*	TEAD3_ENST00000338863.7_Nonsense_Mutation_p.Q320*			Q99594	TEAD3_HUMAN	TEA domain family member 3	320	Transcriptional activation. {ECO:0000255}.				female pregnancy (GO:0007565)|gene expression (GO:0010467)|hippo signaling (GO:0035329)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	10						GAGCTGTACTGAGAGCTGACC	0.612																																						uc003oku.3		NaN																	0				ovary(1)	1						c.(958-960)CAG>TAG		TEA domain family member 3							75.0	83.0	81.0					6																	35443426		2106	4241	6347	SO:0001587	stop_gained	7005				female pregnancy|hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:35443426G>A	X94439	CCDS47414.1	6p21.2	2008-07-28			ENSG00000007866	ENSG00000007866			11716	protein-coding gene	gene with protein product		603170		TEAD5		9889009, 9148898	Standard	NM_003214		Approved	TEF-5, ETFR-1	uc003oku.4	Q99594	OTTHUMG00000014571	ENST00000402886.3:c.778C>T	6.37:g.35443426G>A	ENSP00000384577:p.Gln260*					TEAD3_uc003okt.2_Nonsense_Mutation_p.Q209*|TEAD3_uc010jvx.2_Nonsense_Mutation_p.Q260*	p.Q320*	NM_003214	NP_003205	Q99594	TEAD3_HUMAN			11	1194	-			320			Transcriptional activation (Potential).		O95910|Q5BJG7|Q8N6Y4	Nonsense_Mutation	SNP	ENST00000402886.3	37	c.958C>T		.	.	.	.	.	.	.	.	.	.	G	28.2	4.901123	0.92035	.	.	ENSG00000007866	ENST00000338863;ENST00000402886;ENST00000373905	.	.	.	4.72	4.72	0.59763	.	0.061993	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-25.9668	16.8407	0.85968	0.0:0.0:1.0:0.0	.	.	.	.	X	320;260;336	.	ENSP00000345772:Q320X	Q	-	1	0	TEAD3	35551404	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	9.523000	0.98034	2.442000	0.82660	0.455000	0.32223	CAG		0.612	TEAD3-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000316961.2				18	39	0	0	0	1	0	18	39		
TULP1	7287	broad.mit.edu	37	6	35478728	35478728	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr6:35478728C>G	ENST00000229771.6	-	5	488	c.409G>C	c.(409-411)Gag>Cag	p.E137Q	TULP1_ENST00000322263.4_Missense_Mutation_p.E84Q	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN	tubby like protein 1	137					dendrite development (GO:0016358)|detection of light stimulus involved in visual perception (GO:0050908)|eye photoreceptor cell development (GO:0042462)|phagocytosis (GO:0006909)|photoreceptor cell maintenance (GO:0045494)|phototransduction (GO:0007602)|positive regulation of phagocytosis (GO:0050766)|retina development in camera-type eye (GO:0060041)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|synapse (GO:0045202)	actin filament binding (GO:0051015)|G-protein coupled photoreceptor activity (GO:0008020)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						AGGATTTTctctttcttttcc	0.587																																					GBM(55;1027 1091 11115 23439)	uc003okv.3		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(409-411)GAG>CAG		tubby like protein 1							71.0	72.0	71.0					6																	35478728		2203	4300	6503	SO:0001583	missense	7287				dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding	g.chr6:35478728C>G	U82468	CCDS4807.1, CCDS75436.1	6p21.3	2014-01-28			ENSG00000112041	ENSG00000112041			12423	protein-coding gene	gene with protein product		602280		RP14		9096357, 9521870	Standard	NM_003322		Approved	TUBL1, LCA15	uc003okv.4	O00294	OTTHUMG00000014575	ENST00000229771.6:c.409G>C	6.37:g.35478728C>G	ENSP00000229771:p.Glu137Gln					TULP1_uc003okw.3_Missense_Mutation_p.E84Q	p.E137Q	NM_003322	NP_003313	O00294	TULP1_HUMAN			5	421	-			137					O43536|Q5TGM5|Q8N571	Missense_Mutation	SNP	ENST00000229771.6	37	c.409G>C	CCDS4807.1	.	.	.	.	.	.	.	.	.	.	C	11.72	1.723144	0.30503	.	.	ENSG00000112041	ENST00000229771;ENST00000322263;ENST00000545327;ENST00000428978	T;T;T	0.80994	-1.44;-1.42;0.78	4.26	2.42	0.29668	.	1.711070	0.03339	N	0.194467	T	0.56441	0.1985	L	0.43152	1.355	0.29947	N	0.820561	B;B	0.16802	0.019;0.0	B;B	0.14578	0.011;0.001	T	0.23226	-1.0194	10	0.34782	T	0.22	-10.4241	5.9519	0.19250	0.0:0.701:0.1929:0.1061	.	84;137	O00294-2;O00294	.;TULP1_HUMAN	Q	137;84;84;89	ENSP00000229771:E137Q;ENSP00000319414:E84Q;ENSP00000406765:E89Q	ENSP00000229771:E137Q	E	-	1	0	TULP1	35586706	0.951000	0.32395	0.993000	0.49108	0.784000	0.44337	0.137000	0.15995	0.514000	0.28300	-0.254000	0.11334	GAG		0.587	TULP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040307.2				19	31	0	0	0	1	0	19	31		
LHFPL5	222662	broad.mit.edu	37	6	35773514	35773514	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr6:35773514C>T	ENST00000373853.1	+	1	445	c.67C>T	c.(67-69)Cga>Tga	p.R23*	LHFPL5_ENST00000360215.1_Nonsense_Mutation_p.R23*			Q8TAF8	TMHS_HUMAN	lipoma HMGIC fusion partner-like 5	23					auditory receptor cell stereocilium organization (GO:0060088)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transport (GO:0006811)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)				endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1)	20						GCGGAACTCGCGAGCCGTGGG	0.617																																						uc003olg.1		NaN																	0				skin(1)	1						c.(67-69)CGA>TGA		lipoma HMGIC fusion partner-like 5							160.0	141.0	148.0					6																	35773514		2203	4300	6503	SO:0001587	stop_gained	222662					integral to membrane		g.chr6:35773514C>T	BC028630	CCDS4812.1	6p21.31	2014-01-28				ENSG00000197753			21253	protein-coding gene	gene with protein product		609427	"""deafness, autosomal recessive 67"""	DFNB67		16459341	Standard	NM_182548		Approved	MGC33835, dJ510O8.8, Tmhs	uc003olg.1	Q8TAF8		ENST00000373853.1:c.67C>T	6.37:g.35773514C>T	ENSP00000362960:p.Arg23*						p.R23*	NM_182548	NP_872354	Q8TAF8	TMHS_HUMAN			1	444	+			23					B3KX66	Nonsense_Mutation	SNP	ENST00000373853.1	37	c.67C>T	CCDS4812.1	.	.	.	.	.	.	.	.	.	.	C	38	6.845311	0.97881	.	.	ENSG00000197753	ENST00000373853;ENST00000360215	.	.	.	5.33	1.09	0.20402	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-32.2078	11.8319	0.52301	0.395:0.5141:0.091:0.0	.	.	.	.	X	23	.	ENSP00000353346:R23X	R	+	1	2	LHFPL5	35881492	0.512000	0.26186	0.047000	0.18901	0.678000	0.39670	1.205000	0.32308	-0.122000	0.11766	0.542000	0.68232	CGA		0.617	LHFPL5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040323.1		NM_182548		24	59	0	0	0	1	0	24	59		
BTBD9	114781	broad.mit.edu	37	6	38561774	38561774	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr6:38561774A>G	ENST00000481247.1	-	3	666	c.515T>C	c.(514-516)gTc>gCc	p.V172A	BTBD9_ENST00000408958.1_Missense_Mutation_p.V104A|BTBD9_ENST00000419706.2_Missense_Mutation_p.V113A|BTBD9_ENST00000403056.1_Missense_Mutation_p.V172A|BTBD9_ENST00000314100.6_Missense_Mutation_p.V104A	NM_001099272.1|NM_052893.1	NP_001092742.1|NP_443125.1	Q96Q07	BTBD9_HUMAN	BTB (POZ) domain containing 9	172	BACK.				adult locomotory behavior (GO:0008344)|cell adhesion (GO:0007155)|circadian sleep/wake cycle, non-REM sleep (GO:0042748)|long-term memory (GO:0007616)|multicellular organismal iron ion homeostasis (GO:0060586)|regulation of synaptic vesicle endocytosis (GO:1900242)|sensory perception of temperature stimulus (GO:0050951)|serotonin metabolic process (GO:0042428)					breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	12						ACTTGAGAGGACTTCCTGAGC	0.383																																						uc003ooa.3		NaN																	0					0						c.(514-516)GTC>GCC		BTB (POZ) domain containing 9 isoform a							166.0	163.0	164.0					6																	38561774		1919	4132	6051	SO:0001583	missense	114781				cell adhesion			g.chr6:38561774A>G		CCDS43458.1, CCDS47418.1, CCDS54998.1	6p21	2014-01-28			ENSG00000183826	ENSG00000183826		"""BTB/POZ domain containing"""	21228	protein-coding gene	gene with protein product		611237				11572484	Standard	NM_052893		Approved	KIAA1880, dJ322I12.1	uc010jwx.3	Q96Q07	OTTHUMG00000014634	ENST00000481247.1:c.515T>C	6.37:g.38561774A>G	ENSP00000418751:p.Val172Ala					BTBD9_uc003ony.3_Missense_Mutation_p.V104A|BTBD9_uc010jwv.2_Missense_Mutation_p.V104A|BTBD9_uc010jww.2_RNA|BTBD9_uc010jwx.2_Missense_Mutation_p.V172A	p.V172A	NM_052893	NP_443125	Q96Q07	BTBD9_HUMAN			4	1091	-			172			BACK.		Q494V9|Q494W1|Q96M00	Missense_Mutation	SNP	ENST00000481247.1	37	c.515T>C	CCDS47418.1	.	.	.	.	.	.	.	.	.	.	A	25.9	4.683749	0.88639	.	.	ENSG00000183826	ENST00000314100;ENST00000481247;ENST00000419706;ENST00000403056;ENST00000408958;ENST00000497373	T;T;T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13;-1.13;-1.13	5.65	5.65	0.86999	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	D	0.83335	0.5232	L	0.58583	1.82	0.80722	D	1	D;D	0.67145	0.996;0.992	D;D	0.77004	0.951;0.989	D	0.85438	0.1153	10	0.72032	D	0.01	.	16.1642	0.81743	1.0:0.0:0.0:0.0	.	113;172	Q494V9;Q96Q07	.;BTBD9_HUMAN	A	104;172;113;172;104;104	ENSP00000323408:V104A;ENSP00000418751:V172A;ENSP00000415365:V113A;ENSP00000386121:V172A;ENSP00000386211:V104A;ENSP00000418201:V104A	ENSP00000323408:V104A	V	-	2	0	BTBD9	38669752	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	9.229000	0.95273	2.280000	0.76307	0.460000	0.39030	GTC		0.383	BTBD9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040433.2		NM_152733		48	137	0	0	0	1	0	48	137		
GLO1	2739	broad.mit.edu	37	6	38670780	38670780	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr6:38670780G>A	ENST00000373365.4	-	1	137	c.51C>T	c.(49-51)ctC>ctT	p.L17L		NM_006708.2	NP_006699.2	Q04760	LGUL_HUMAN	glyoxalase I	17					carbohydrate metabolic process (GO:0005975)|glutathione metabolic process (GO:0006749)|methylglyoxal metabolic process (GO:0009438)|negative regulation of apoptotic process (GO:0043066)|osteoclast differentiation (GO:0030316)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	lactoylglutathione lyase activity (GO:0004462)|zinc ion binding (GO:0008270)			lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	6					Glutathione(DB00143)|Indomethacin(DB00328)	AGCAGCAACTGAGGGCGGCCT	0.692																																						uc003ooc.2		NaN																	0				ovary(1)	1						c.(49-51)CTC>CTT		glyoxalase I	Glutathione(DB00143)						14.0	17.0	16.0					6																	38670780		2196	4289	6485	SO:0001819	synonymous_variant	2739				anti-apoptosis|carbohydrate metabolic process	cytoplasm	lactoylglutathione lyase activity|metal ion binding	g.chr6:38670780G>A	L07837	CCDS4837.1	6p21.3-p21.1	2012-10-02			ENSG00000124767	ENSG00000124767	4.4.1.5		4323	protein-coding gene	gene with protein product	"""glyoxalase domain containing 1"""	138750				8449929, 7684374	Standard	NM_006708		Approved	GLOD1	uc003ooc.3	Q04760	OTTHUMG00000014636	ENST00000373365.4:c.51C>T	6.37:g.38670780G>A							p.L17L	NM_006708	NP_006699	Q04760	LGUL_HUMAN			1	173	-			17					B2R6P7|B4DDV0|P78375|Q59EL0|Q5TZW3|Q96FC0|Q96J41	Silent	SNP	ENST00000373365.4	37	c.51C>T	CCDS4837.1																																																																																				0.692	GLO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040438.2		NM_006708		10	1	0	0	0	1	0	10	1		
ZNF318	24149	broad.mit.edu	37	6	43322436	43322436	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr6:43322436G>C	ENST00000361428.2	-	4	2713	c.2636C>G	c.(2635-2637)tCt>tGt	p.S879C	ZNF318_ENST00000318149.3_Missense_Mutation_p.S879C	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	879					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CTTCTCATCAGAGATCTTCTC	0.438																																						uc003oux.2		NaN																	0				ovary(3)|breast(2)|central_nervous_system(1)|skin(1)	7						c.(2635-2637)TCT>TGT		zinc finger protein 318							103.0	106.0	105.0					6																	43322436		2203	4300	6503	SO:0001583	missense	24149				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr6:43322436G>C	AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"""Zinc fingers, C2H2-type"""	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.2636C>G	6.37:g.43322436G>C	ENSP00000354964:p.Ser879Cys					ZNF318_uc003ouw.2_RNA	p.S879C	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)		4	2714	-			879			Potential.		O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Missense_Mutation	SNP	ENST00000361428.2	37	c.2636C>G	CCDS4895.2	.	.	.	.	.	.	.	.	.	.	G	15.87	2.959509	0.53400	.	.	ENSG00000171467	ENST00000318149;ENST00000361428	T;T	0.37235	1.21;2.45	5.65	4.79	0.61399	.	0.000000	0.85682	D	0.000000	T	0.35566	0.0936	L	0.29908	0.895	0.34348	D	0.689558	D	0.89917	1.0	D	0.87578	0.998	T	0.43540	-0.9385	10	0.72032	D	0.01	-5.2599	12.9689	0.58501	0.0746:0.0:0.9254:0.0	.	879	Q5VUA4	ZN318_HUMAN	C	879	ENSP00000323032:S879C;ENSP00000354964:S879C	ENSP00000323032:S879C	S	-	2	0	ZNF318	43430414	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.231000	0.65327	1.411000	0.46957	0.655000	0.94253	TCT		0.438	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2		NM_014345		67	5	0	0	0	1	0	67	5		
NFKBIE	4794	broad.mit.edu	37	6	44232769	44232769	+	Silent	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr6:44232769C>G	ENST00000275015.5	-	1	731	c.732G>C	c.(730-732)ctG>ctC	p.L244L		NM_004556.2	NP_004547.2	O00221	IKBE_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, epsilon	244					cytoplasmic sequestering of transcription factor (GO:0042994)|D-serine transport (GO:0042942)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)				breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|urinary_tract(1)	10	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GCTGAGGGCTCAGCGCCCCCA	0.662																																						uc003oxe.1		NaN																	0				breast(2)	2						c.(730-732)CTG>CTC		nuclear factor of kappa light polypeptide gene							19.0	22.0	21.0					6																	44232769		2197	4289	6486	SO:0001819	synonymous_variant	4794				cytoplasmic sequestering of transcription factor		protein binding	g.chr6:44232769C>G	U91616	CCDS34463.1	6p21.1	2013-01-10			ENSG00000146232	ENSG00000146232		"""Ankyrin repeat domain containing"""	7799	protein-coding gene	gene with protein product		604548				9135156	Standard	NM_004556		Approved	IKBE	uc003oxe.1	O00221	OTTHUMG00000014762	ENST00000275015.5:c.732G>C	6.37:g.44232769C>G							p.L244L	NM_004556	NP_004547	O00221	IKBE_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		1	757	-	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		244					Q5T9V9	Silent	SNP	ENST00000275015.5	37	c.732G>C	CCDS34463.1																																																																																				0.662	NFKBIE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040733.2				3	2	0	0	0	1	0	3	2		
PTCHD4	442213	broad.mit.edu	37	6	47847059	47847059	+	Silent	SNP	A	A	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr6:47847059A>C	ENST00000339488.4	-	3	1554	c.1521T>G	c.(1519-1521)gtT>gtG	p.V507V		NM_001013732.3	NP_001013754.3	Q6ZW05	PTHD4_HUMAN	patched domain containing 4	507						integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)										ATTTCTGCTGAACCATGGCAT	0.478																																						uc011dwm.1		NaN																	0				central_nervous_system(1)	1						c.(1468-1470)GTT>GTG		hypothetical protein LOC442213							71.0	62.0	65.0					6																	47847059		2203	4300	6503	SO:0001819	synonymous_variant	442213					integral to membrane	hedgehog receptor activity	g.chr6:47847059A>C		CCDS34473.2	6p12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000244694	ENSG00000244694			21345	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 138"""	C6orf138			Standard	NM_001013732		Approved	dJ402H5.2, FLJ41841	uc011dwm.2	Q6ZW05	OTTHUMG00000150404	ENST00000339488.4:c.1521T>G	6.37:g.47847059A>C						C6orf138_uc011dwn.1_Silent_p.V254V	p.V490V	NM_001013732	NP_001013754	Q6ZW05	CF138_HUMAN			3	1555	-			507					B0QZ29|B4DRK3|Q5T884	Silent	SNP	ENST00000339488.4	37	c.1470T>G	CCDS34473.2																																																																																				0.478	PTCHD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317987.2		NM_001013732		9	3	0	0	0	1	0	9	3		
TFAP2D	83741	broad.mit.edu	37	6	50740451	50740451	+	Silent	SNP	A	A	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr6:50740451A>G	ENST00000008391.3	+	8	1461	c.1233A>G	c.(1231-1233)aaA>aaG	p.K411K		NM_172238.3	NP_758438.2			transcription factor AP-2 delta (activating enhancer binding protein 2 delta)											NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					ACTTGGAAAAACACACTACTC	0.502																																						uc003paf.2		NaN																	0				ovary(6)|breast(1)	7						c.(1231-1233)AAA>AAG		transcription factor AP-2 beta-like 1							66.0	65.0	65.0					6																	50740451		2203	4300	6503	SO:0001819	synonymous_variant	83741						DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:50740451A>G	AY028376	CCDS4933.1	6p12.3	2008-02-05	2004-10-26	2004-10-27		ENSG00000008197			15581	protein-coding gene	gene with protein product		610161	"""transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)-like 1"""	TFAP2BL1		11733187	Standard	NM_172238		Approved		uc003paf.3	Q7Z6R9		ENST00000008391.3:c.1233A>G	6.37:g.50740451A>G						TFAP2D_uc011dwt.1_RNA	p.K411K	NM_172238	NP_758438	Q7Z6R9	AP2D_HUMAN			8	1745	+	Lung NSC(77;0.0334)		411						Silent	SNP	ENST00000008391.3	37	c.1233A>G	CCDS4933.1																																																																																				0.502	TFAP2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040881.1		NM_172238		16	28	0	0	0	1	0	16	28		
GSTA2	2939	broad.mit.edu	37	6	52615459	52615459	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr6:52615459C>G	ENST00000493422.1	-	7	740	c.585G>C	c.(583-585)aaG>aaC	p.K195N		NM_000846.4	NP_000837.3	P09210	GSTA2_HUMAN	glutathione S-transferase alpha 2	195	GST C-terminal.				epithelial cell differentiation (GO:0030855)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(77;0.118)				Azathioprine(DB00993)|Busulfan(DB01008)|Chloroquine(DB00608)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Vitamin E(DB00163)	GTAGAAACTTCTTCACTGTGG	0.453																																						uc003pay.2		NaN																	0				ovary(1)	1						c.(583-585)AAG>AAC		glutathione S-transferase alpha 2	Aminophenazone(DB01424)|Amsacrine(DB00276)|Busulfan(DB01008)|Chlorambucil(DB00291)|Chloroquine(DB00608)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Mechlorethamine(DB00888)|Praziquantel(DB01058)|Vitamin E(DB00163)						117.0	118.0	117.0					6																	52615459		2203	4300	6503	SO:0001583	missense	2939				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity	g.chr6:52615459C>G	AL109918	CCDS4944.1	6p12.2	2012-06-21	2008-11-26		ENSG00000244067	ENSG00000244067	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4627	protein-coding gene	gene with protein product		138360	"""glutathione S-transferase A2"""	GST2			Standard	NM_000846		Approved		uc003pay.3	P09210	OTTHUMG00000016263	ENST00000493422.1:c.585G>C	6.37:g.52615459C>G	ENSP00000420168:p.Lys195Asn						p.K195N	NM_000846	NP_000837	P09210	GSTA2_HUMAN			7	735	-	Lung NSC(77;0.118)		195			GST C-terminal.		Q12759|Q16491|Q9NTY6	Missense_Mutation	SNP	ENST00000493422.1	37	c.585G>C	CCDS4944.1	.	.	.	.	.	.	.	.	.	.	c	14.06	2.422541	0.43020	.	.	ENSG00000244067	ENST00000493422	T	0.15372	2.43	2.32	2.32	0.28847	Glutathione S-transferase, C-terminal-like (1);Glutathione S-transferase/chloride channel, C-terminal (1);	0.353495	0.27636	N	0.018488	T	0.33235	0.0856	M	0.92219	3.285	0.34716	D	0.728231	D	0.63880	0.993	P	0.62089	0.898	T	0.43507	-0.9387	10	0.56958	D	0.05	.	10.3559	0.43964	0.0:1.0:0.0:0.0	.	195	P09210	GSTA2_HUMAN	N	195	ENSP00000420168:K195N	ENSP00000420168:K195N	K	-	3	2	GSTA2	52723418	0.997000	0.39634	0.998000	0.56505	0.694000	0.40290	0.191000	0.17076	1.309000	0.44985	0.298000	0.19748	AAG		0.453	GSTA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043589.1		NM_000846		54	38	0	0	0	1	0	54	38		
BAI3	577	broad.mit.edu	37	6	69949067	69949067	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr6:69949067C>T	ENST00000370598.1	+	20	3584	c.2763C>T	c.(2761-2763)atC>atT	p.I921I	BAI3_ENST00000238918.8_Silent_p.I127I	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	921					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GCCTGTCTATCATCTCATCCA	0.353																																						uc003pev.3		NaN																	0				lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50						c.(2761-2763)ATC>ATT		brain-specific angiogenesis inhibitor 3							180.0	173.0	176.0					6																	69949067		2203	4298	6501	SO:0001819	synonymous_variant	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:69949067C>T	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.2763C>T	6.37:g.69949067C>T						BAI3_uc010kak.2_Silent_p.I921I|BAI3_uc011dxx.1_Silent_p.I127I|BAI3_uc003pex.1_Silent_p.I51I	p.I921I	NM_001704	NP_001695	O60242	BAI3_HUMAN			20	3211	+		all_lung(197;0.212)	921			Helical; Name=2; (Potential).		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Silent	SNP	ENST00000370598.1	37	c.2763C>T	CCDS4968.1																																																																																				0.353	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1				37	44	0	0	0	1	0	37	44		
COL9A1	1297	broad.mit.edu	37	6	70964891	70964891	+	Silent	SNP	T	T	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr6:70964891T>G	ENST00000357250.6	-	23	1731	c.1573A>C	c.(1573-1575)Aga>Cga	p.R525R	COL9A1_ENST00000370499.4_Silent_p.R282R|COL9A1_ENST00000489611.1_5'UTR|COL9A1_ENST00000320755.7_Silent_p.R282R	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	525	Triple-helical region (COL2).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|organ morphogenesis (GO:0009887)|tissue homeostasis (GO:0001894)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						GGAATTCCTCTAGCACCTTCA	0.443																																						uc003pfg.3		NaN																	0				ovary(4)	4						c.(1573-1575)AGA>CGA		alpha 1 type IX collagen isoform 1 precursor							148.0	150.0	149.0					6																	70964891		2203	4300	6503	SO:0001819	synonymous_variant	1297				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding	g.chr6:70964891T>G		CCDS4971.1, CCDS47447.1	6q13	2013-05-07			ENSG00000112280	ENSG00000112280		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2217	protein-coding gene	gene with protein product		120210				1429648	Standard	NM_001851		Approved		uc003pfg.4	P20849	OTTHUMG00000014988	ENST00000357250.6:c.1573A>C	6.37:g.70964891T>G						COL9A1_uc003pfe.3_Silent_p.R98R|COL9A1_uc003pff.3_Silent_p.R282R	p.R525R	NM_001851	NP_001842	P20849	CO9A1_HUMAN			23	1732	-			525			Triple-helical region (COL2).		Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	Silent	SNP	ENST00000357250.6	37	c.1573A>C	CCDS4971.1																																																																																				0.443	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041131.2				37	55	0	0	0	1	0	37	55		
BEND3	57673	broad.mit.edu	37	6	107391788	107391788	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr6:107391788G>C	ENST00000369042.1	-	4	797	c.607C>G	c.(607-609)Ctg>Gtg	p.L203V	BEND3_ENST00000429433.2_Missense_Mutation_p.L203V			Q5T5X7	BEND3_HUMAN	BEN domain containing 3	203										central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						AGGGTGTTCAGCATGTAGAAC	0.572																																						uc003prs.2		NaN																	0				ovary(3)	3						c.(607-609)CTG>GTG		BEN domain containing 3							145.0	111.0	122.0					6																	107391788		2203	4300	6503	SO:0001583	missense	57673							g.chr6:107391788G>C	AB046773	CCDS34507.1	6q21	2012-11-22	2008-10-03	2008-10-03	ENSG00000178409	ENSG00000178409		"""BEN domain containing"""	23040	protein-coding gene	gene with protein product			"""KIAA1553"""	KIAA1553			Standard	NM_001080450		Approved		uc003prs.2	Q5T5X7	OTTHUMG00000015308	ENST00000369042.1:c.607C>G	6.37:g.107391788G>C	ENSP00000358038:p.Leu203Val						p.L203V	NM_001080450	NP_001073919	Q5T5X7	BEND3_HUMAN			5	1257	-			203					A2RRH2|Q9HCL9	Missense_Mutation	SNP	ENST00000369042.1	37	c.607C>G	CCDS34507.1	.	.	.	.	.	.	.	.	.	.	G	17.69	3.452935	0.63290	.	.	ENSG00000178409	ENST00000369042;ENST00000429433	.	.	.	5.2	5.2	0.72013	.	0.000000	0.64402	D	0.000001	T	0.61677	0.2366	L	0.29908	0.895	0.58432	D	0.999999	D	0.63880	0.993	D	0.76071	0.987	T	0.66139	-0.5998	9	0.87932	D	0	-17.0172	18.8988	0.92434	0.0:0.0:1.0:0.0	.	203	Q5T5X7	BEND3_HUMAN	V	203	.	ENSP00000358038:L203V	L	-	1	2	BEND3	107498481	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.265000	0.78442	2.706000	0.92434	0.462000	0.41574	CTG		0.572	BEND3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041686.1		NM_020913		4	27	0	0	0	1	0	4	27		
MICAL1	64780	broad.mit.edu	37	6	109766413	109766413	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr6:109766413C>T	ENST00000358807.3	-	22	3179	c.2868G>A	c.(2866-2868)ttG>ttA	p.L956L	MICAL1_ENST00000358577.3_Silent_p.L870L|MICAL1_ENST00000368952.4_Silent_p.L975L	NM_022765.3	NP_073602.3	Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	956					actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of protein phosphorylation (GO:0001933)|oxidation-reduction process (GO:0055114)|signal transduction (GO:0007165)|sulfur oxidation (GO:0019417)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)	p.L956F(1)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		TCTGGCGCCTCAAGGCCAGCT	0.592																																						uc003ptj.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	breast(2)|ovary(1)	3						c.(2866-2868)TTG>TTA		microtubule associated monoxygenase, calponin							60.0	58.0	59.0					6																	109766413		2203	4300	6503	SO:0001819	synonymous_variant	64780				cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding	g.chr6:109766413C>T	AB048948	CCDS5076.1, CCDS55047.1	6q21	2013-03-26	2013-03-26	2005-02-16	ENSG00000135596	ENSG00000135596			20619	protein-coding gene	gene with protein product		607129	"""NEDD9 interacting protein with calponin homology and LIM domains"""	NICAL		11827972	Standard	NM_022765		Approved	MICAL, FLJ11937, DKFZp434B1517, FLJ21739	uc003ptk.3	Q8TDZ2	OTTHUMG00000015350	ENST00000358807.3:c.2868G>A	6.37:g.109766413C>T						MICAL1_uc003ptk.2_Silent_p.L956L|MICAL1_uc010kdr.2_Silent_p.L870L|MICAL1_uc011eaq.1_Silent_p.L975L	p.L956L	NM_022765	NP_073602	Q8TDZ2	MICA1_HUMAN		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)	21	3122	-		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)	956			Potential.		B7Z3R5|E1P5F0|Q7Z633|Q8IVS9|Q96G47|Q9H6X6|Q9H7I0|Q9HAA1|Q9UFF7	Silent	SNP	ENST00000358807.3	37	c.2868G>A	CCDS5076.1																																																																																				0.592	MICAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041759.2		NM_022765		16	19	0	0	0	1	0	16	19		
REV3L	5980	broad.mit.edu	37	6	111697217	111697217	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr6:111697217C>T	ENST00000358835.3	-	14	2795	c.2341G>A	c.(2341-2343)Gaa>Aaa	p.E781K	REV3L_ENST00000435970.1_Missense_Mutation_p.E703K|REV3L_ENST00000368805.1_Missense_Mutation_p.E781K|REV3L_ENST00000368802.3_Missense_Mutation_p.E781K			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	781					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		GTTTTATGTTCTTGAAATTCT	0.378								DNA polymerases (catalytic subunits)																														uc003puy.3		NaN																	0				large_intestine(2)|ovary(2)|skin(2)	6						c.(2341-2343)GAA>AAA	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	DNA polymerase zeta							133.0	136.0	135.0					6																	111697217		2203	4300	6503	SO:0001583	missense	5980				DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding	g.chr6:111697217C>T	AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.2341G>A	6.37:g.111697217C>T	ENSP00000351697:p.Glu781Lys					REV3L_uc003pux.3_Missense_Mutation_p.E703K|REV3L_uc003puz.3_Missense_Mutation_p.E703K	p.E781K	NM_002912	NP_002903	O60673	DPOLZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)	13	2664	-		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)	781					O43214|Q5TC33	Missense_Mutation	SNP	ENST00000358835.3	37	c.2341G>A	CCDS5091.2	.	.	.	.	.	.	.	.	.	.	C	14.05	2.420609	0.42918	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	T;T;T;T	0.02140	4.53;4.53;4.53;4.43	5.43	4.55	0.56014	Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.01222	0.0040	L	0.32530	0.975	0.41814	D	0.989985	P	0.41393	0.748	B	0.37346	0.247	T	0.62501	-0.6841	10	0.66056	D	0.02	-16.6983	16.1494	0.81602	0.0:0.8661:0.1339:0.0	.	781	O60673	DPOLZ_HUMAN	K	781;781;781;703	ENSP00000357792:E781K;ENSP00000357795:E781K;ENSP00000351697:E781K;ENSP00000402003:E703K	ENSP00000351697:E781K	E	-	1	0	REV3L	111803910	1.000000	0.71417	1.000000	0.80357	0.385000	0.30292	7.350000	0.79385	1.275000	0.44379	-0.302000	0.09304	GAA		0.378	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1		NM_002912		23	33	0	0	0	1	0	23	33		
FAM229B	619208	broad.mit.edu	37	6	112420507	112420507	+	Silent	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr6:112420507C>A	ENST00000368656.2	+	3	318	c.21C>A	c.(19-21)acC>acA	p.T7T	FAM229B_ENST00000604268.1_Silent_p.T7T	NM_001033564.1	NP_001028736.1	Q4G0N7	F229B_HUMAN	family with sequence similarity 229, member B	7																	AATTTGGAACCCAGCCAAGGA	0.428																																						uc003pvs.2		NaN																	0					0						c.(19-21)ACC>ACA		hypothetical protein LOC619208							95.0	94.0	95.0					6																	112420507		2203	4300	6503	SO:0001819	synonymous_variant	619208							g.chr6:112420507C>A		CCDS34513.1	6q21	2012-12-12	2012-12-12	2012-12-12	ENSG00000203778	ENSG00000203778			33858	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 225"""	C6orf225			Standard	NM_001033564		Approved	DKFZp586F0922, LOC619208	uc003pvs.3	Q4G0N7	OTTHUMG00000015383	ENST00000368656.2:c.21C>A	6.37:g.112420507C>A							p.T7T	NM_001033564	NP_001028736	Q4G0N7	CF225_HUMAN			3	446	+			7					B8ZZ33	Silent	SNP	ENST00000368656.2	37	c.21C>A	CCDS34513.1																																																																																				0.428	FAM229B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041870.2		NM_001033564		21	31	1	0	2.70639e-06	1	2.8172e-06	21	31		
STX7	8417	broad.mit.edu	37	6	132785148	132785148	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr6:132785148C>T	ENST00000367941.2	-	9	790	c.677G>A	c.(676-678)aGg>aAg	p.R226K	STX7_ENST00000367937.4_Missense_Mutation_p.R226K	NM_003569.2	NP_003560.2	O15400	STX7_HUMAN	syntaxin 7	226	t-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00202}.				intracellular protein transport (GO:0006886)|post-Golgi vesicle-mediated transport (GO:0006892)|synaptic vesicle exocytosis (GO:0016079)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)|SNARE binding (GO:0000149)			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(1)|lung(5)	19	Breast(56;0.0615)			OV - Ovarian serous cystadenocarcinoma(155;0.00532)|GBM - Glioblastoma multiforme(226;0.0114)		ATCTGCTGCCCTTGACAGCTG	0.393																																						uc003qdg.2		NaN																	0					0						c.(676-678)AGG>AAG		syntaxin 7							175.0	151.0	159.0					6																	132785148		2203	4300	6503	SO:0001583	missense	8417				intracellular protein transport|post-Golgi vesicle-mediated transport	early endosome membrane|integral to membrane	SNAP receptor activity	g.chr6:132785148C>T	U77942	CCDS5153.1	6q23.1	2008-02-05			ENSG00000079950	ENSG00000079950			11442	protein-coding gene	gene with protein product		603217				9358037	Standard	NM_003569		Approved		uc003qdg.2	O15400	OTTHUMG00000015577	ENST00000367941.2:c.677G>A	6.37:g.132785148C>T	ENSP00000356918:p.Arg226Lys					STX7_uc011ecg.1_RNA|STX7_uc011ech.1_Missense_Mutation_p.R51K	p.R226K	NM_003569	NP_003560	O15400	STX7_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00532)|GBM - Glioblastoma multiforme(226;0.0114)	9	927	-	Breast(56;0.0615)		226			t-SNARE coiled-coil homology.|Cytoplasmic (Potential).		E1P579|Q5SZW2|Q96ES9	Missense_Mutation	SNP	ENST00000367941.2	37	c.677G>A	CCDS5153.1	.	.	.	.	.	.	.	.	.	.	C	14.94	2.685432	0.47991	.	.	ENSG00000079950	ENST00000367941;ENST00000448348;ENST00000309255;ENST00000367937	T;T;T	0.23147	1.92;1.92;2.03	5.64	4.78	0.61160	Target SNARE coiled-coil domain (3);	0.000000	0.85682	D	0.000000	T	0.05868	0.0153	N	0.11673	0.155	0.58432	D	0.999999	P;B	0.40970	0.734;0.45	B;B	0.42163	0.203;0.378	T	0.04752	-1.0929	10	0.02654	T	1	-10.1235	14.9	0.70672	0.0:0.9311:0.0:0.0689	.	51;226	B4DWC2;O15400	.;STX7_HUMAN	K	226;226;181;226	ENSP00000356918:R226K;ENSP00000412202:R226K;ENSP00000356914:R226K	ENSP00000309600:R181K	R	-	2	0	STX7	132826841	1.000000	0.71417	1.000000	0.80357	0.631000	0.37964	7.212000	0.77941	1.523000	0.49018	0.650000	0.86243	AGG		0.393	STX7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042252.2				28	35	0	0	0	1	0	28	35		
TAAR5	9038	broad.mit.edu	37	6	132910508	132910508	+	Silent	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr6:132910508G>C	ENST00000258034.2	-	1	369	c.318C>G	c.(316-318)ctC>ctG	p.L106L		NM_003967.2	NP_003958.2	O14804	TAAR5_HUMAN	trace amine associated receptor 5	106					G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|trimethylamine receptor activity (GO:1990081)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	32	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)		GCAGGCGGCAGAGGAAGTCCC	0.592																																						uc003qdk.2		NaN																	0				skin(1)	1						c.(316-318)CTC>CTG		trace amine associated receptor 5							136.0	144.0	142.0					6																	132910508		2203	4300	6503	SO:0001819	synonymous_variant	9038				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity	g.chr6:132910508G>C	AF021818	CCDS5156.1	6q23.2	2012-08-08			ENSG00000135569	ENSG00000135569		"""GPCR / Class A : Trace amine associated receptors"""	30236	protein-coding gene	gene with protein product		607405				9464258, 15718104	Standard	NM_003967		Approved	PNR	uc003qdk.2	O14804	OTTHUMG00000015581	ENST00000258034.2:c.318C>G	6.37:g.132910508G>C							p.L106L	NM_003967	NP_003958	O14804	TAAR5_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)	1	370	-	Breast(56;0.112)		106			Extracellular (Potential).		D8KZS1|Q2M1V1|Q4VBL1|Q5VUQ3|Q6NTA8	Silent	SNP	ENST00000258034.2	37	c.318C>G	CCDS5156.1																																																																																				0.592	TAAR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042257.1		NM_003967		30	31	0	0	0	1	0	30	31		
GRM1	2911	broad.mit.edu	37	6	146350756	146350756	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr6:146350756C>T	ENST00000282753.1	+	1	338	c.103C>T	c.(103-105)Cag>Tag	p.Q35*	GRM1_ENST00000492807.2_Nonsense_Mutation_p.Q35*|GRM1_ENST00000361719.2_Nonsense_Mutation_p.Q35*|GRM1_ENST00000355289.4_Nonsense_Mutation_p.Q35*|GRM1_ENST00000507907.1_Nonsense_Mutation_p.Q35*|GRM1_ENST00000392299.2_Nonsense_Mutation_p.Q35*			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	35					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		AGCGTCGTCTCAGCGCTCGGT	0.582																																						uc010khw.1		NaN																	0				lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19						c.(103-105)CAG>TAG		glutamate receptor, metabotropic 1 isoform alpha	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						91.0	103.0	99.0					6																	146350756		2203	4300	6503	SO:0001587	stop_gained	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146350756C>T	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.103C>T	6.37:g.146350756C>T	ENSP00000282753:p.Gln35*					GRM1_uc010khu.1_Nonsense_Mutation_p.Q35*|GRM1_uc010khv.1_Nonsense_Mutation_p.Q35*|GRM1_uc003qll.2_Nonsense_Mutation_p.Q35*|GRM1_uc011edz.1_Nonsense_Mutation_p.Q35*|GRM1_uc011eea.1_Nonsense_Mutation_p.Q35*	p.Q35*	NM_000838	NP_000829	Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	2	573	+		Ovarian(120;0.0387)	35			Extracellular (Potential).		B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Nonsense_Mutation	SNP	ENST00000282753.1	37	c.103C>T	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	C	41	8.978707	0.99023	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	.	.	.	5.57	5.57	0.84162	.	0.123692	0.56097	D	0.000037	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	.	19.5425	0.95280	0.0:1.0:0.0:0.0	.	.	.	.	X	35	.	ENSP00000282753:Q35X	Q	+	1	0	GRM1	146392449	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	4.062000	0.57492	2.619000	0.88677	0.561000	0.74099	CAG		0.582	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1		NM_000838		44	81	0	0	0	1	0	44	81		
SYNE1	23345	broad.mit.edu	37	6	152583209	152583209	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr6:152583209C>G	ENST00000367255.5	-	101	19531	c.18930G>C	c.(18928-18930)caG>caC	p.Q6310H	SYNE1_ENST00000423061.1_Missense_Mutation_p.Q6239H|SYNE1_ENST00000356820.4_Missense_Mutation_p.Q834H|SYNE1_ENST00000448038.1_Missense_Mutation_p.Q6239H|SYNE1_ENST00000265368.4_Missense_Mutation_p.Q6310H|SYNE1_ENST00000341594.5_Missense_Mutation_p.Q5922H	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6310					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GTAGTAGTTTCTGCTTGGTAC	0.368										HNSCC(10;0.0054)																												uc010kiw.2		NaN																	0				central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(18928-18930)CAG>CAC		spectrin repeat containing, nuclear envelope 1							148.0	135.0	139.0					6																	152583209		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152583209C>G	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.18930G>C	6.37:g.152583209C>G	ENSP00000356224:p.Gln6310His	HNSCC(10;0.0054)				SYNE1_uc010kiv.2_Missense_Mutation_p.Q834H|SYNE1_uc003qos.3_Missense_Mutation_p.Q834H|SYNE1_uc003qot.3_Missense_Mutation_p.Q6239H|SYNE1_uc003qou.3_Missense_Mutation_p.Q6310H	p.Q6310H	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	101	19532	-		Ovarian(120;0.0955)	6310			Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.18930G>C	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	10.01	1.234514	0.22626	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820	T;T;T;T;T;T	0.54866	0.64;0.63;0.55;0.63;0.74;2.65	5.96	4.19	0.49359	.	0.111909	0.40064	N	0.001195	T	0.24353	0.0590	L	0.51422	1.61	0.28372	N	0.919935	B;B;B	0.15141	0.004;0.004;0.012	B;B;B	0.16289	0.006;0.006;0.015	T	0.11591	-1.0581	10	0.44086	T	0.13	.	6.1155	0.20124	0.0:0.6505:0.1386:0.2108	.	6310;6310;6239	Q8NF91;E7EQI5;Q8NF91-4	SYNE1_HUMAN;.;.	H	6310;6239;6310;6239;5922;834	ENSP00000356224:Q6310H;ENSP00000396024:Q6239H;ENSP00000265368:Q6310H;ENSP00000390975:Q6239H;ENSP00000341887:Q5922H;ENSP00000349276:Q834H	ENSP00000265368:Q6310H	Q	-	3	2	SYNE1	152624902	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.737000	0.38197	1.538000	0.49270	0.650000	0.86243	CAG		0.368	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2		NM_182961		15	28	0	0	0	1	0	15	28		
SYNE1	23345	broad.mit.edu	37	6	152599392	152599392	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr6:152599392C>G	ENST00000367255.5	-	98	19006	c.18405G>C	c.(18403-18405)caG>caC	p.Q6135H	SYNE1_ENST00000423061.1_Missense_Mutation_p.Q6064H|SYNE1_ENST00000356820.4_Missense_Mutation_p.Q659H|SYNE1_ENST00000448038.1_Missense_Mutation_p.Q6064H|SYNE1_ENST00000265368.4_Missense_Mutation_p.Q6135H|SYNE1_ENST00000341594.5_Missense_Mutation_p.Q5747H	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6135					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CCACCACCTTCTGCTCTATTT	0.498										HNSCC(10;0.0054)																												uc010kiw.2		NaN																	0				central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(18403-18405)CAG>CAC		spectrin repeat containing, nuclear envelope 1							155.0	160.0	159.0					6																	152599392		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152599392C>G	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.18405G>C	6.37:g.152599392C>G	ENSP00000356224:p.Gln6135His	HNSCC(10;0.0054)				SYNE1_uc010kiv.2_Missense_Mutation_p.Q659H|SYNE1_uc003qos.3_Missense_Mutation_p.Q659H|SYNE1_uc003qot.3_Missense_Mutation_p.Q6064H|SYNE1_uc003qou.3_Missense_Mutation_p.Q6135H|SYNE1_uc010kiy.1_Missense_Mutation_p.Q314H	p.Q6135H	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	98	19007	-		Ovarian(120;0.0955)	6135			Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.18405G>C	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	14.39	2.519929	0.44866	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820	T;T;T;T;T;T	0.58060	0.46;0.45;0.36;0.45;0.6;0.93	5.28	4.4	0.53042	.	0.000000	0.56097	D	0.000027	T	0.63604	0.2525	M	0.67953	2.075	0.39273	D	0.964425	D;D;D;D	0.89917	0.974;0.999;0.999;1.0	P;D;D;D	0.74348	0.653;0.962;0.962;0.983	T	0.66854	-0.5818	10	0.66056	D	0.02	.	14.8099	0.69985	0.0:0.9267:0.0:0.0733	.	550;6135;6135;6064	B7ZBD0;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	H	6135;6064;6135;6064;5747;659	ENSP00000356224:Q6135H;ENSP00000396024:Q6064H;ENSP00000265368:Q6135H;ENSP00000390975:Q6064H;ENSP00000341887:Q5747H;ENSP00000349276:Q659H	ENSP00000265368:Q6135H	Q	-	3	2	SYNE1	152641085	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.822000	0.39052	2.612000	0.88384	0.563000	0.77884	CAG		0.498	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2		NM_182961		6	95	0	0	0	1	0	6	95		
TAGAP	117289	broad.mit.edu	37	6	159457377	159457377	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr6:159457377C>G	ENST00000367066.3	-	10	2009	c.1678G>C	c.(1678-1680)Gaa>Caa	p.E560Q	RP1-111C20.4_ENST00000606466.1_RNA|RP1-111C20.4_ENST00000607391.1_RNA|TAGAP_ENST00000326965.6_Missense_Mutation_p.E382Q|RP1-111C20.4_ENST00000607796.1_RNA|RP1-111C20.4_ENST00000606470.1_RNA	NM_001278733.1|NM_054114.3	NP_001265662.1|NP_473455.2	Q8N103	TAGAP_HUMAN	T-cell activation RhoGTPase activating protein	560					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		TTGTGGGTTTCACACCCATTT	0.607																																						uc003qrz.2		NaN																	0				ovary(1)	1						c.(1678-1680)GAA>CAA		T-cell activation Rho GTPase-activating protein							60.0	67.0	65.0					6																	159457377		2203	4300	6503	SO:0001583	missense	117289				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr6:159457377C>G	AF385429	CCDS5261.1, CCDS5262.1, CCDS5263.1	6q25.3	2011-09-07	2008-03-25		ENSG00000164691	ENSG00000164691		"""Rho GTPase activating proteins"""	15669	protein-coding gene	gene with protein product		609667	"""T-cell activation GTPase activating protein"""			16375659, 18311140, 18356936	Standard	NM_152133		Approved	FLJ32631, IDDM21, ARHGAP47	uc003qrz.3	Q8N103	OTTHUMG00000015923	ENST00000367066.3:c.1678G>C	6.37:g.159457377C>G	ENSP00000356033:p.Glu560Gln					TAGAP_uc011eft.1_Missense_Mutation_p.E497Q|TAGAP_uc003qsa.2_Missense_Mutation_p.E382Q	p.E560Q	NM_054114	NP_473455	Q8N103	TAGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)	10	2010	-		Breast(66;0.000776)|Ovarian(120;0.0303)	560					Q2NKM8|Q8NI40|Q96KZ2|Q96QA2	Missense_Mutation	SNP	ENST00000367066.3	37	c.1678G>C	CCDS5261.1	.	.	.	.	.	.	.	.	.	.	C	14.47	2.546039	0.45383	.	.	ENSG00000164691	ENST00000367066;ENST00000326965;ENST00000539071	T;T	0.21543	2.0;2.27	5.54	5.54	0.83059	.	0.509754	0.19215	N	0.119831	T	0.14960	0.0361	M	0.70275	2.135	0.54753	D	0.999982	B	0.29988	0.264	B	0.26693	0.072	T	0.01541	-1.1329	10	0.39692	T	0.17	-15.2552	14.7812	0.69769	0.145:0.855:0.0:0.0	.	560	Q8N103	TAGAP_HUMAN	Q	560;382;225	ENSP00000356033:E560Q;ENSP00000322650:E382Q	ENSP00000322650:E382Q	E	-	1	0	TAGAP	159377365	0.037000	0.19845	0.001000	0.08648	0.015000	0.08874	0.938000	0.28965	2.595000	0.87683	0.655000	0.94253	GAA		0.607	TAGAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042890.1		NM_054114		7	38	0	0	0	1	0	7	38		
RPS6KA2	6196	broad.mit.edu	37	6	166923801	166923801	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr6:166923801C>T	ENST00000265678.4	-	4	566	c.343G>A	c.(343-345)Gaa>Aaa	p.E115K	RPS6KA2_ENST00000405189.3_Missense_Mutation_p.E26K|RPS6KA2_ENST00000503859.1_Missense_Mutation_p.E123K|RPS6KA2_ENST00000481261.2_Missense_Mutation_p.E26K|MIR1913_ENST00000411026.1_RNA|RPS6KA2_ENST00000366863.2_5'UTR|RPS6KA2_ENST00000510118.1_Missense_Mutation_p.E140K	NM_021135.4	NP_066958.2	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	115	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|brain renin-angiotensin system (GO:0002035)|cardiac muscle cell apoptotic process (GO:0010659)|cellular response to carbohydrate stimulus (GO:0071322)|heart contraction (GO:0060047)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of meiosis (GO:0045835)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oocyte maturation (GO:0001556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of gene expression (GO:0010628)|regulation of protein processing (GO:0070613)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ribosomal protein S6 kinase activity (GO:0004711)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		TGATTCACTTCTGCCAAGATG	0.423																																						uc003qvb.1		NaN																	0				ovary(2)|lung(2)|skin(2)|large_intestine(1)|central_nervous_system(1)	8						c.(343-345)GAA>AAA		ribosomal protein S6 kinase, 90kDa, polypeptide							124.0	114.0	118.0					6																	166923801		2203	4300	6503	SO:0001583	missense	6196				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr6:166923801C>T	L07598	CCDS5294.1, CCDS34570.1	6q27	2011-04-05	2002-08-29		ENSG00000071242	ENSG00000071242			10431	protein-coding gene	gene with protein product		601685	"""ribosomal protein S6 kinase, 90kD, polypeptide 2"""			8141249	Standard	NM_001006932		Approved	RSK, RSK3, HU-2	uc003qvc.1	Q15349	OTTHUMG00000016007	ENST00000265678.4:c.343G>A	6.37:g.166923801C>T	ENSP00000265678:p.Glu115Lys					RPS6KA2_uc011ego.1_Missense_Mutation_p.E26K|RPS6KA2_uc010kkl.1_Missense_Mutation_p.E26K|RPS6KA2_uc003qvc.1_Missense_Mutation_p.E123K|RPS6KA2_uc003qvd.1_Missense_Mutation_p.E140K|MIR1913_hsa-mir-1913|MI0008334_5'Flank	p.E115K	NM_021135	NP_066958	Q15349	KS6A2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)	4	562	-		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)	115			Protein kinase 1.		B3KTK9|Q15419|Q59GJ3|Q5TI68|Q96J38|Q9UJN5	Missense_Mutation	SNP	ENST00000265678.4	37	c.343G>A	CCDS5294.1	.	.	.	.	.	.	.	.	.	.	C	19.84	3.901214	0.72754	.	.	ENSG00000071242	ENST00000265678;ENST00000510118;ENST00000503859;ENST00000481261;ENST00000405189;ENST00000507350;ENST00000512860;ENST00000507371;ENST00000506565;ENST00000511034	T;T;T;T;T;T;T;T;T;D	0.81821	-0.11;-0.11;-0.11;-0.11;-0.11;-0.11;-0.11;-0.11;-0.11;-1.54	4.27	4.27	0.50696	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	U	0.000000	T	0.61148	0.2324	N	0.00742	-1.23	0.80722	D	1	B;B;D	0.64830	0.111;0.025;0.994	B;B;D	0.73708	0.098;0.025;0.981	T	0.77466	-0.2577	10	0.38643	T	0.18	.	14.1912	0.65639	0.0:1.0:0.0:0.0	.	140;123;115	F2Z2J1;Q15349-3;Q15349	.;.;KS6A2_HUMAN	K	115;140;123;26;26;26;26;99;140;26	ENSP00000265678:E115K;ENSP00000422435:E140K;ENSP00000427015:E123K;ENSP00000422484:E26K;ENSP00000386050:E26K;ENSP00000422197:E26K;ENSP00000427605:E26K;ENSP00000423114:E99K;ENSP00000425148:E140K;ENSP00000425458:E26K	ENSP00000265678:E115K	E	-	1	0	RPS6KA2	166843791	1.000000	0.71417	0.990000	0.47175	0.975000	0.68041	6.560000	0.73950	1.926000	0.55796	0.491000	0.48974	GAA		0.423	RPS6KA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043075.3		NM_021135		16	26	0	0	0	1	0	16	26		
MEOX2	4223	broad.mit.edu	37	7	15666538	15666538	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr7:15666538G>A	ENST00000262041.5	-	2	932	c.523C>T	c.(523-525)Cag>Tag	p.Q175*		NM_005924.4	NP_005915.2	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	175					angiogenesis (GO:0001525)|blood circulation (GO:0008015)|limb development (GO:0060173)|multicellular organismal development (GO:0007275)|neuron death (GO:0070997)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle tissue development (GO:0007519)|somite specification (GO:0001757)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding (GO:0043565)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		TTTCCTTCCTGGGAGTCTGAA	0.363																																					Esophageal Squamous(140;197 1769 16409 18257 29929)	uc003stc.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(523-525)CAG>TAG		mesenchyme homeobox 2							214.0	190.0	198.0					7																	15666538		2203	4300	6503	SO:0001587	stop_gained	4223				blood circulation|multicellular organismal development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:15666538G>A		CCDS34605.1	7p22.1-p21.3	2014-07-15	2005-12-22		ENSG00000106511	ENSG00000106511		"""Homeoboxes / ANTP class : HOXL subclass"""	7014	protein-coding gene	gene with protein product	"""growth arrest-specific homeobox"""	600535	"""mesenchyme homeo box 2 (growth arrest-specific homeo box)"", ""mesenchyme homeobox 2 (growth arrest-specific homeo box)"""	GAX		7713505	Standard	NM_005924		Approved	MOX2	uc003stc.3	P50222	OTTHUMG00000152390	ENST00000262041.5:c.523C>T	7.37:g.15666538G>A	ENSP00000262041:p.Gln175*					MEOX2_uc011jxw.1_Nonsense_Mutation_p.Q175*	p.Q175*	NM_005924	NP_005915	P50222	MEOX2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)	2	804	-			175					B2R8I7|O75263|Q9UPL6	Nonsense_Mutation	SNP	ENST00000262041.5	37	c.523C>T	CCDS34605.1	.	.	.	.	.	.	.	.	.	.	G	40	8.498609	0.98838	.	.	ENSG00000106511	ENST00000262041	.	.	.	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	-19.5216	19.9317	0.97122	0.0:0.0:1.0:0.0	.	.	.	.	X	175	.	ENSP00000262041:Q175X	Q	-	1	0	MEOX2	15633063	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.434000	0.97515	2.716000	0.92895	0.591000	0.81541	CAG		0.363	MEOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326058.2		NM_005924		14	60	0	0	0	1	0	14	60		
HOXA10	3206	broad.mit.edu	37	7	27211618	27211618	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr7:27211618C>T	ENST00000283921.4	-	2	1132	c.1133G>A	c.(1132-1134)aGa>aAa	p.R378K	RP1-170O19.20_ENST00000465941.1_Intron|HOXA-AS4_ENST00000519694.1_RNA|MIR196B_ENST00000384852.1_RNA|HOXA-AS4_ENST00000523790.1_RNA|HOXA9_ENST00000497089.1_5'Flank|HOXA10_ENST00000396344.4_Missense_Mutation_p.R62K|RP1-170O19.20_ENST00000470747.4_Intron|HOXA-AS4_ENST00000519935.1_RNA|HOXA10_ENST00000521421.1_5'UTR	NM_018951.3	NP_061824.3	P31260	HXA10_HUMAN	homeobox A10	378					anterior/posterior pattern specification (GO:0009952)|embryonic limb morphogenesis (GO:0030326)|male gonad development (GO:0008584)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|single fertilization (GO:0007338)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|uterus development (GO:0060065)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase binding (GO:0042826)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	9						TTTCACTTGTCTGTCCGTGAG	0.483																																						uc011jzm.1		NaN																	0					0						c.(1132-1134)AGA>AAA		homeobox A10 isoform a							103.0	106.0	105.0					7																	27211618		2203	4300	6503	SO:0001583	missense	3206				spermatogenesis		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27211618C>T		CCDS5410.2	7p15.2	2011-06-20	2005-12-22		ENSG00000253293	ENSG00000253293		"""Homeoboxes / ANTP class : HOXL subclass"""	5100	protein-coding gene	gene with protein product		142957	"""homeo box A10"""	HOX1H, HOX1		1973146, 1358459	Standard	NR_037939		Approved		uc011jzm.2	P31260	OTTHUMG00000023436	ENST00000283921.4:c.1133G>A	7.37:g.27211618C>T	ENSP00000283921:p.Arg378Lys					MIR196B_hsa-mir-196b|MI0001150_5'Flank|HOXA10_uc003syw.3_Missense_Mutation_p.R62K	p.R378K	NM_018951	NP_061824	P31260	HXA10_HUMAN			2	1163	-			378			Homeobox.		O43370|O43605|Q15949|Q504T1	Missense_Mutation	SNP	ENST00000283921.4	37	c.1133G>A	CCDS5410.2	.	.	.	.	.	.	.	.	.	.	C	27.9	4.877097	0.91664	.	.	ENSG00000253293	ENST00000283921;ENST00000396344	D;D	0.96232	-3.95;-3.95	5.68	5.68	0.88126	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.97977	0.9334	M	0.71581	2.175	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.98559	1.0640	10	0.87932	D	0	.	19.7917	0.96461	0.0:1.0:0.0:0.0	.	378;62	P31260;Q504T1	HXA10_HUMAN;.	K	378;62	ENSP00000283921:R378K;ENSP00000379633:R62K	ENSP00000283921:R378K	R	-	2	0	HOXA10	27178143	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.688000	0.91661	0.563000	0.77884	AGA		0.483	HOXA10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358724.2				27	84	0	0	0	1	0	27	84		
ANLN	54443	broad.mit.edu	37	7	36438741	36438741	+	Missense_Mutation	SNP	G	G	A	rs549587288		TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr7:36438741G>A	ENST00000265748.2	+	3	447	c.226G>A	c.(226-228)Gaa>Aaa	p.E76K	ANLN_ENST00000396068.2_Missense_Mutation_p.E76K	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	76	Interaction with CD2AP.|Nuclear localization.				hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|regulation of exit from mitosis (GO:0007096)|septin ring assembly (GO:0000921)	actin cytoskeleton (GO:0015629)|actomyosin contractile ring (GO:0005826)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	actin binding (GO:0003779)			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						TGACAACACTGAAGTAGAAGT	0.373													G|||	1	0.000199681	0.0	0.0	5008	,	,		18980	0.001		0.0	False		,,,				2504	0.0					uc003tff.2		NaN																	0				ovary(2)|skin(1)	3						c.(226-228)GAA>AAA		anillin, actin binding protein							68.0	70.0	69.0					7																	36438741		2203	4300	6503	SO:0001583	missense	54443				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding	g.chr7:36438741G>A	AF273437	CCDS5447.1, CCDS64628.1	7p15-p14	2013-01-10	2006-08-22		ENSG00000011426	ENSG00000011426		"""Pleckstrin homology (PH) domain containing"""	14082	protein-coding gene	gene with protein product			"""anillin (Drosophila Scraps homolog), actin binding protein"", ""anillin, actin binding protein (scraps homolog, Drosophila)"""			10931866	Standard	NM_001284301		Approved	ANILLIN, Scraps, scra	uc003tff.3	Q9NQW6	OTTHUMG00000023143	ENST00000265748.2:c.226G>A	7.37:g.36438741G>A	ENSP00000265748:p.Glu76Lys					ANLN_uc011kaz.1_Intron|ANLN_uc003tfg.2_Missense_Mutation_p.E76K|ANLN_uc010kxe.2_Missense_Mutation_p.E76K	p.E76K	NM_018685	NP_061155	Q9NQW6	ANLN_HUMAN			3	430	+			76			Nuclear localization.|Interaction with CD2AP.		Q5CZ78|Q6NSK5|Q9H8Y4|Q9NVN9|Q9NVP0	Missense_Mutation	SNP	ENST00000265748.2	37	c.226G>A	CCDS5447.1	.	.	.	.	.	.	.	.	.	.	G	11.59	1.682757	0.29872	.	.	ENSG00000011426	ENST00000265748;ENST00000396068;ENST00000424865	T;T;T	0.41400	1.0;1.0;4.09	5.35	3.51	0.40186	.	0.411394	0.29002	N	0.013459	T	0.40094	0.1103	M	0.69823	2.125	0.19300	N	0.999971	P;P;P	0.39782	0.561;0.688;0.554	B;B;B	0.36845	0.118;0.234;0.159	T	0.29971	-0.9994	10	0.28530	T	0.3	-14.4335	12.5162	0.56034	0.1434:0.0:0.8566:0.0	.	76;76;76	A8K5D9;Q9NQW6-2;Q9NQW6	.;.;ANLN_HUMAN	K	76;76;54	ENSP00000265748:E76K;ENSP00000379380:E76K;ENSP00000404979:E54K	ENSP00000265748:E76K	E	+	1	0	ANLN	36405266	0.999000	0.42202	0.819000	0.32651	0.536000	0.34869	3.018000	0.49625	1.382000	0.46385	0.655000	0.94253	GAA		0.373	ANLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218582.3		NM_018685		11	31	0	0	0	1	0	11	31		
AEBP1	165	broad.mit.edu	37	7	44144280	44144280	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr7:44144280G>T	ENST00000223357.3	+	1	321	c.16G>T	c.(16-18)Ggg>Tgg	p.G6W		NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	6					cell adhesion (GO:0007155)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						ggccgtgcgcggggcgccccT	0.751																																						uc003tkb.2		NaN																	0					0						c.(16-18)GGG>TGG		adipocyte enhancer binding protein 1 precursor							5.0	5.0	5.0					7																	44144280		2094	4132	6226	SO:0001583	missense	165				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:44144280G>T	D86479	CCDS5476.1	7p	2008-07-18	2001-11-28		ENSG00000106624	ENSG00000106624			303	protein-coding gene	gene with protein product	"""aortic carboxypeptidase-like protein"", ""adipocyte enhancer binding protein 1"""	602981	"""AE-binding protein 1"""			8920928	Standard	NM_001129		Approved	ACLP	uc003tkb.4	Q8IUX7	OTTHUMG00000023362	ENST00000223357.3:c.16G>T	7.37:g.44144280G>T	ENSP00000223357:p.Gly6Trp						p.G6W	NM_001129	NP_001120	Q8IUX7	AEBP1_HUMAN			1	321	+			6					Q14113|Q59ER7|Q6ZSC7|Q7KZ79	Missense_Mutation	SNP	ENST00000223357.3	37	c.16G>T	CCDS5476.1	.	.	.	.	.	.	.	.	.	.	G	13.83	2.353885	0.41700	.	.	ENSG00000106624	ENST00000223357	D	0.95069	-3.6	3.38	1.36	0.22044	.	3.483240	0.02340	U	0.074784	D	0.90813	0.7115	N	0.14661	0.345	0.24914	N	0.992027	D	0.60575	0.988	P	0.48873	0.593	T	0.82973	-0.0191	10	0.59425	D	0.04	-9.8931	5.8036	0.18428	0.4153:0.0:0.5847:0.0	.	6	Q8IUX7	AEBP1_HUMAN	W	6	ENSP00000223357:G6W	ENSP00000223357:G6W	G	+	1	0	AEBP1	44110805	0.334000	0.24739	0.060000	0.19600	0.981000	0.71138	1.152000	0.31663	0.068000	0.16574	0.511000	0.50034	GGG		0.751	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250993.2		NM_001129		3	4	1	0	0.004672	1	0.00472309	3	4		
ABCA13	154664	broad.mit.edu	37	7	48450206	48450206	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr7:48450206T>C	ENST00000435803.1	+	40	12184	c.12160T>C	c.(12160-12162)Tgc>Cgc	p.C4054R		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4054	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GAGGCTCAGGTGCTGCGGTCC	0.597																																						uc003toq.2		NaN																	0				ovary(5)|central_nervous_system(4)|skin(1)	10						c.(12160-12162)TGC>CGC		ATP binding cassette, sub-family A (ABC1),							113.0	112.0	113.0					7																	48450206		2078	4210	6288	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48450206T>C	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.12160T>C	7.37:g.48450206T>C	ENSP00000411096:p.Cys4054Arg					ABCA13_uc010kys.1_Missense_Mutation_p.C1128R|ABCA13_uc010kyt.1_RNA	p.C4054R	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN			40	12185	+			4054			ABC transporter 1.		K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.12160T>C	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	T	15.15	2.748137	0.49257	.	.	ENSG00000179869	ENST00000435803	T	0.76060	-0.99	5.33	4.16	0.48862	ABC transporter-like (1);	0.116805	0.39210	N	0.001430	T	0.80428	0.4621	L	0.47716	1.5	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.68621	0.959;0.942	T	0.81163	-0.1058	10	0.87932	D	0	.	11.8809	0.52576	0.0:0.0:0.1464:0.8536	.	1756;4054	Q86UQ4-3;Q86UQ4	.;ABCAD_HUMAN	R	4054	ENSP00000411096:C4054R	ENSP00000411096:C4054R	C	+	1	0	ABCA13	48420752	1.000000	0.71417	0.360000	0.25837	0.238000	0.25445	6.100000	0.71473	0.933000	0.37291	0.533000	0.62120	TGC		0.597	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2		NM_152701		46	83	0	0	0	1	0	46	83		
ABCB4	5244	broad.mit.edu	37	7	87060748	87060748	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr7:87060748C>A	ENST00000265723.4	-	15	1976	c.1865G>T	c.(1864-1866)gGg>gTg	p.G622V	ABCB4_ENST00000453593.1_Missense_Mutation_p.G622V|ABCB4_ENST00000545634.1_Missense_Mutation_p.G622V|ABCB4_ENST00000358400.3_Missense_Mutation_p.G622V|ABCB4_ENST00000359206.3_Missense_Mutation_p.G622V	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	622	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	GAAGTACACCCCTTCCTTCTT	0.413																																						uc003uiv.1		NaN																	0				ovary(4)|skin(1)|pancreas(1)	6						c.(1864-1866)GGG>GTG		ATP-binding cassette, subfamily B, member 4							215.0	184.0	194.0					7																	87060748		2203	4300	6503	SO:0001583	missense	5244				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	g.chr7:87060748C>A	M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"""ATP binding cassette transporters / subfamily B"""	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.1865G>T	7.37:g.87060748C>A	ENSP00000265723:p.Gly622Val					ABCB4_uc003uiw.1_Missense_Mutation_p.G622V|ABCB4_uc003uix.1_Missense_Mutation_p.G622V	p.G622V	NM_018849	NP_061337	P21439	MDR3_HUMAN			15	1941	-	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		622			ABC transporter 1.|Cytoplasmic (By similarity).		A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Missense_Mutation	SNP	ENST00000265723.4	37	c.1865G>T	CCDS5606.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.736596	0.89482	.	.	ENSG00000005471	ENST00000359206;ENST00000358400;ENST00000265723;ENST00000453593;ENST00000545634	D;D;D;D;D	0.98717	-5.09;-5.09;-5.09;-5.09;-5.09	5.49	5.49	0.81192	ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.99105	0.9692	M	0.79258	2.445	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.996	D;D;D	0.80764	0.994;0.988;0.972	D	0.99863	1.1086	10	0.87932	D	0	-13.3268	19.365	0.94458	0.0:1.0:0.0:0.0	.	622;622;622	A4D1D5;P21439-2;P21439	.;.;MDR3_HUMAN	V	622	ENSP00000352135:G622V;ENSP00000351172:G622V;ENSP00000265723:G622V;ENSP00000392983:G622V;ENSP00000437465:G622V	ENSP00000265723:G622V	G	-	2	0	ABCB4	86898684	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.766000	0.85320	2.580000	0.87095	0.591000	0.81541	GGG		0.413	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1		NM_000443		18	113	1	0	3.52763e-06	1	3.66456e-06	18	113		
SLC25A40	55972	broad.mit.edu	37	7	87485664	87485664	+	Missense_Mutation	SNP	T	T	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr7:87485664T>A	ENST00000341119.5	-	4	446	c.100A>T	c.(100-102)Aca>Tca	p.T34S		NM_018843.3	NP_061331.2	Q8TBP6	S2540_HUMAN	solute carrier family 25, member 40	34					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	17	Esophageal squamous(14;0.00202)					TCCAGGGGTGTCACTATGAAG	0.343																																						uc003uje.2		NaN																	0				haematopoietic_and_lymphoid_tissue(1)	1						c.(100-102)ACA>TCA		mitochondrial carrier family protein							168.0	159.0	162.0					7																	87485664		2203	4300	6503	SO:0001583	missense	55972				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr7:87485664T>A	AF125531	CCDS5610.1	7q21.12	2013-05-22			ENSG00000075303	ENSG00000075303		"""Solute carriers"""	29680	protein-coding gene	gene with protein product		610821				16949250	Standard	NM_018843		Approved	MCFP	uc003uje.3	Q8TBP6	OTTHUMG00000131033	ENST00000341119.5:c.100A>T	7.37:g.87485664T>A	ENSP00000344831:p.Thr34Ser						p.T34S	NM_018843	NP_061331	Q8TBP6	S2540_HUMAN			4	451	-	Esophageal squamous(14;0.00202)		34			Solcar 1.|Helical; Name=1; (Potential).		A8K483|D6W5P6|Q53GB1|Q9UHR1	Missense_Mutation	SNP	ENST00000341119.5	37	c.100A>T	CCDS5610.1	.	.	.	.	.	.	.	.	.	.	T	32	5.152063	0.94645	.	.	ENSG00000075303	ENST00000341119	T	0.78246	-1.16	5.6	5.6	0.85130	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.87533	0.6201	M	0.75447	2.3	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.88542	0.3110	10	0.59425	D	0.04	-22.1746	15.7909	0.78364	0.0:0.0:0.0:1.0	.	34	Q8TBP6	S2540_HUMAN	S	34	ENSP00000344831:T34S	ENSP00000344831:T34S	T	-	1	0	SLC25A40	87323600	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	7.586000	0.82596	2.121000	0.65114	0.460000	0.39030	ACA		0.343	SLC25A40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253677.5		NM_018843		23	155	0	0	0	1	0	23	155		
ADAM22	53616	broad.mit.edu	37	7	87743932	87743932	+	Silent	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr7:87743932C>G	ENST00000265727.7	+	6	586	c.507C>G	c.(505-507)ctC>ctG	p.L169L	ADAM22_ENST00000398201.4_Silent_p.L169L|ADAM22_ENST00000398204.4_Silent_p.L169L|ADAM22_ENST00000398209.3_Silent_p.L169L|ADAM22_ENST00000439864.1_Silent_p.L169L|ADAM22_ENST00000315984.7_Silent_p.L169L			Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	169					adult locomotory behavior (GO:0008344)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell adhesion (GO:0007162)	integral component of membrane (GO:0016021)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			ACACATATCTCATTGAGCCAG	0.398																																						uc003ujn.2		NaN																	0				ovary(4)|skin(2)|lung(1)|kidney(1)	8						c.(505-507)CTC>CTG		ADAM metallopeptidase domain 22 isoform 1							186.0	177.0	180.0					7																	87743932		1907	4130	6037	SO:0001819	synonymous_variant	53616				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding	g.chr7:87743932C>G	AB009671	CCDS43608.1, CCDS43609.1, CCDS43610.1, CCDS47637.1	7q21	2008-07-18	2005-08-18		ENSG00000008277	ENSG00000008277		"""ADAM metallopeptidase domain containing"""	201	protein-coding gene	gene with protein product	"""metalloproteinase-like, disintegrin-like, and cysteine-rich protein 2"""	603709	"""a disintegrin and metalloproteinase domain 22"""			9693107, 10524237	Standard	NM_021723		Approved	MDC2	uc003ujn.3	Q9P0K1	OTTHUMG00000137417	ENST00000265727.7:c.507C>G	7.37:g.87743932C>G						ADAM22_uc003uji.1_Silent_p.L168L|ADAM22_uc003ujj.1_Silent_p.L169L|ADAM22_uc003ujk.1_Silent_p.L169L|ADAM22_uc003ujl.1_Silent_p.L169L|ADAM22_uc003ujm.2_Silent_p.L169L|ADAM22_uc003ujo.2_Silent_p.L169L|ADAM22_uc003ujp.1_Silent_p.L221L	p.L169L	NM_021723	NP_068369	Q9P0K1	ADA22_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		6	586	+	Esophageal squamous(14;0.00202)		169					O75075|O75076|Q9P0K2|Q9UIA1|Q9UKK2	Silent	SNP	ENST00000265727.7	37	c.507C>G	CCDS47637.1																																																																																				0.398	ADAM22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268370.2		NM_021723		11	59	0	0	0	1	0	11	59		
HEPACAM2	253012	broad.mit.edu	37	7	92848468	92848468	+	Missense_Mutation	SNP	T	T	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr7:92848468T>A	ENST00000394468.2	-	2	453	c.376A>T	c.(376-378)Att>Ttt	p.I126F	HEPACAM2_ENST00000440868.1_Missense_Mutation_p.I114F|HEPACAM2_ENST00000341723.4_Missense_Mutation_p.I114F|HEPACAM2_ENST00000453812.2_Missense_Mutation_p.I149F	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	126					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|midbody (GO:0030496)|spindle (GO:0005819)				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						TTTCCCTGAATGTTGACCTTC	0.483																																						uc003umm.2		NaN																	0				ovary(3)|breast(1)|kidney(1)	5						c.(376-378)ATT>TTT		HEPACAM family member 2 isoform 1							142.0	113.0	123.0					7																	92848468		2203	4300	6503	SO:0001583	missense	253012					integral to membrane		g.chr7:92848468T>A	AK096002	CCDS5629.1, CCDS43616.1, CCDS75631.1, CCDS75632.1	7q21.3	2013-01-29	2008-07-11		ENSG00000188175	ENSG00000188175		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	27364	protein-coding gene	gene with protein product		614133				12975309	Standard	NM_001288804		Approved	FLJ38683	uc003umm.3	A8MVW5	OTTHUMG00000131732	ENST00000394468.2:c.376A>T	7.37:g.92848468T>A	ENSP00000377980:p.Ile126Phe					HEPACAM2_uc003uml.2_Missense_Mutation_p.I114F|HEPACAM2_uc010lff.2_Missense_Mutation_p.I114F|HEPACAM2_uc011khy.1_Missense_Mutation_p.I149F	p.I126F	NM_001039372	NP_001034461	A8MVW5	HECA2_HUMAN			2	399	-			126			Extracellular (Potential).		B3KTT4|B4DPJ1|B9EG93|E9PDV5|Q6UXI0	Missense_Mutation	SNP	ENST00000394468.2	37	c.376A>T	CCDS43616.1	.	.	.	.	.	.	.	.	.	.	T	17.48	3.399248	0.62177	.	.	ENSG00000188175	ENST00000394468;ENST00000341723;ENST00000440868;ENST00000453812	T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13	5.72	0.385	0.16249	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	0.197005	0.51477	D	0.000088	T	0.63402	0.2508	L	0.29908	0.895	0.38244	D	0.941407	D;D;D;D	0.71674	0.994;0.998;0.991;0.984	D;D;P;P	0.72338	0.917;0.977;0.906;0.805	T	0.63269	-0.6675	10	0.49607	T	0.09	-10.8059	9.6456	0.39865	0.0:0.3953:0.0:0.6047	.	149;114;126;114	E9PDV5;C9JN07;A8MVW5;A8MVW5-2	.;.;HECA2_HUMAN;.	F	126;114;114;149	ENSP00000377980:I126F;ENSP00000340532:I114F;ENSP00000389592:I114F;ENSP00000390204:I149F	ENSP00000340532:I114F	I	-	1	0	HEPACAM2	92686404	1.000000	0.71417	0.916000	0.36221	0.663000	0.39108	1.346000	0.33964	0.188000	0.20168	-0.256000	0.11100	ATT		0.483	HEPACAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254651.1		NM_198151		23	72	0	0	0	1	0	23	72		
PEG10	23089	broad.mit.edu	37	7	94293033	94293033	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr7:94293033G>A	ENST00000482108.1	+	2	644	c.165G>A	c.(163-165)gaG>gaA	p.E55E	PEG10_ENST00000488574.1_Silent_p.E55E	NM_001040152.1|NM_001172438.1|NM_001184962.1	NP_001035242.1|NP_001165909.1|NP_001171891.1	Q86TG7	PEG10_HUMAN	paternally expressed 10	55					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|placenta development (GO:0001890)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1)	21	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			CTGAGGATGAGGATGATGACA	0.587																																						uc011kie.1		NaN																	0				central_nervous_system(1)	1						c.(391-393)GAG>GAA		paternally expressed 10 isoform RF1							55.0	65.0	61.0					7																	94293033		2086	4224	6310	SO:0001819	synonymous_variant	23089				apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr7:94293033G>A	AB049834	CCDS55126.1, CCDS75636.1, CCDS75637.1	7q21	2007-12-07			ENSG00000242265	ENSG00000242265			14005	protein-coding gene	gene with protein product		609810				11318613, 15716091, 16093683	Standard	NM_001172437		Approved	KIAA1051, HB-1, MEF3L, RGAG3, Mar2, Mart2	uc011kie.2	Q86TG7	OTTHUMG00000155578	ENST00000482108.1:c.165G>A	7.37:g.94293033G>A							p.E131E	NM_001040152	NP_001035242	Q86TG7	PEG10_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		2	610	+	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		55					Q96A68|Q9UPV1	Silent	SNP	ENST00000482108.1	37	c.393G>A	CCDS55126.1																																																																																				0.587	PEG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340751.1		NM_015068		3	20	0	0	0	1	0	3	20		
C7orf43	55262	broad.mit.edu	37	7	99755004	99755004	+	Missense_Mutation	SNP	A	A	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr7:99755004A>T	ENST00000316937.3	-	4	901	c.716T>A	c.(715-717)gTg>gAg	p.V239E	C7orf43_ENST00000419841.1_5'UTR|C7orf43_ENST00000394035.2_5'Flank|MIR4658_ENST00000584344.1_RNA|C7orf43_ENST00000498638.1_5'Flank|C7orf43_ENST00000457641.1_5'UTR	NM_018275.3	NP_060745.3	Q8WVR3	CG043_HUMAN	chromosome 7 open reading frame 43	239										breast(1)|endometrium(3)|large_intestine(3)|lung(2)|prostate(1)	10	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ACCCTTGAGCACGGTCAAGTG	0.632											OREG0018198	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003utr.2		NaN																	0					0						c.(715-717)GTG>GAG		hypothetical protein LOC55262							27.0	30.0	29.0					7																	99755004		2203	4300	6503	SO:0001583	missense	55262							g.chr7:99755004A>T		CCDS5687.1	7q22.1	2011-11-25			ENSG00000146826	ENSG00000146826			25604	protein-coding gene	gene with protein product						12477932	Standard	NM_018275		Approved	FLJ10925	uc003utr.3	Q8WVR3	OTTHUMG00000154862	ENST00000316937.3:c.716T>A	7.37:g.99755004A>T	ENSP00000324741:p.Val239Glu		OREG0018198	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1346	C7orf43_uc010lgo.2_5'Flank|C7orf43_uc010lgp.2_5'Flank|C7orf43_uc011kjj.1_5'UTR|C7orf43_uc003uts.2_5'UTR	p.V239E	NM_018275	NP_060745	Q8WVR3	CG043_HUMAN			4	896	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		239					A4D2A9|D6W5U4|Q9BQJ1|Q9BUB6|Q9NV47	Missense_Mutation	SNP	ENST00000316937.3	37	c.716T>A	CCDS5687.1	.	.	.	.	.	.	.	.	.	.	A	18.82	3.705100	0.68615	.	.	ENSG00000146826	ENST00000316937	T	0.38560	1.13	5.63	4.48	0.54585	.	0.173752	0.36703	N	0.002445	T	0.45776	0.1359	N	0.19112	0.55	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.46091	-0.9216	10	0.66056	D	0.02	-14.5123	8.5965	0.33718	0.9126:0.0:0.0874:0.0	.	239	Q8WVR3	CG043_HUMAN	E	239	ENSP00000324741:V239E	ENSP00000324741:V239E	V	-	2	0	C7orf43	99592940	1.000000	0.71417	0.997000	0.53966	0.863000	0.49368	5.538000	0.67193	0.966000	0.38159	-0.566000	0.04163	GTG		0.632	C7orf43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337395.2		NM_018275		5	41	0	0	0	1	0	5	41		
AP1S1	1174	broad.mit.edu	37	7	100802372	100802372	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr7:100802372G>A	ENST00000337619.5	+	4	442	c.324G>A	c.(322-324)gaG>gaA	p.E108E	MIR4653_ENST00000585107.1_RNA	NM_001283.3	NP_001274.1	P61966	AP1S1_HUMAN	adaptor-related protein complex 1, sigma 1 subunit	108					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor-mediated endocytosis (GO:0006898)|regulation of defense response to virus by virus (GO:0050690)|response to virus (GO:0009615)|viral process (GO:0016032)	AP-1 adaptor complex (GO:0030121)|coated pit (GO:0005905)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|trans-Golgi network membrane (GO:0032588)	protein transporter activity (GO:0008565)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)	8	Lung NSC(181;0.168)|all_lung(186;0.215)					TCAACTTTGAGAAGGCCTACT	0.552																																						uc003uxv.3		NaN																	0					0						c.(322-324)GAG>GAA		adaptor-related protein complex 1, sigma 1							86.0	87.0	87.0					7																	100802372		2004	4148	6152	SO:0001819	synonymous_variant	1174				intracellular protein transport|post-Golgi vesicle-mediated transport|receptor-mediated endocytosis|regulation of defense response to virus by virus|response to virus|viral reproduction	AP-1 adaptor complex|coated pit|cytosol|lysosomal membrane	protein binding|protein transporter activity	g.chr7:100802372G>A	AB015319	CCDS47669.1	7q22.1	2014-02-04			ENSG00000106367	ENSG00000106367			559	protein-coding gene	gene with protein product	"""clathrin-associated/assembly/adaptor protein, small 1 (19kD)"", ""clathrin coat assembly protein AP19"", ""sigma1A subunit of AP-1 clathrin adaptor complex"", ""AP-1 complex subunit sigma-1A"", ""sigma1A-adaptin"", ""golgi adaptor HA1/AP1 adaptin sigma-1A subunit"", ""clathrin assembly protein complex 1 sigma-1A small chain"", ""HA1 19 kDa subunit"""	603531	"""erythrokeratodermia variabilis 3 (Kamouraska type)"""	CLAPS1, EKV3		9653655, 9733768, 19057675	Standard	NM_001283		Approved	AP19, SIGMA1A, WUGSC:H_DJ0747G18.2	uc003uxv.4	P61966	OTTHUMG00000157103	ENST00000337619.5:c.324G>A	7.37:g.100802372G>A							p.E108E	NM_001283	NP_001274	P61966	AP1S1_HUMAN			4	434	+	Lung NSC(181;0.168)|all_lung(186;0.215)		108					B2R5D8|P82267|Q00382|Q53YA7|Q9BTN4|Q9UDW9	Silent	SNP	ENST00000337619.5	37	c.324G>A	CCDS47669.1	.	.	.	.	.	.	.	.	.	.	G	9.420	1.082819	0.20309	.	.	ENSG00000106367	ENST00000429457	.	.	.	4.82	3.92	0.45320	.	.	.	.	.	T	0.61489	0.2351	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58555	-0.7616	4	.	.	.	-7.6496	11.1898	0.48679	0.092:0.0:0.908:0.0	.	.	.	.	K	150	.	.	R	+	2	0	AP1S1	100589092	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.626000	0.37039	2.509000	0.84616	0.555000	0.69702	AGA		0.552	AP1S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347439.1		NM_001283		6	45	0	0	0	1	0	6	45		
VGF	7425	broad.mit.edu	37	7	100808035	100808035	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr7:100808035C>T	ENST00000249330.2	-	2	329	c.90G>A	c.(88-90)gcG>gcA	p.A30A	VGF_ENST00000445482.2_Silent_p.A30A	NM_003378.3	NP_003369.2	O15240	VGF_HUMAN	VGF nerve growth factor inducible	30					defense response to bacterium (GO:0042742)|generation of precursor metabolites and energy (GO:0006091)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|ovarian follicle development (GO:0001541)|response to cAMP (GO:0051591)|response to cold (GO:0009409)|response to dietary excess (GO:0002021)|response to insulin (GO:0032868)|sexual reproduction (GO:0019953)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)				cervix(1)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	9	Lung NSC(181;0.168)|all_lung(186;0.215)					GAGGAGGCTGCGCCTCAGGGC	0.652																																						uc003uxx.3		NaN																	0					0						c.(88-90)GCG>GCA		VGF nerve growth factor inducible precursor							16.0	20.0	19.0					7																	100808035		2194	4294	6488	SO:0001819	synonymous_variant	7425				response to cAMP	extracellular space|transport vesicle	growth factor activity	g.chr7:100808035C>T	Y12661	CCDS5712.1	7q22	2008-07-18			ENSG00000128564	ENSG00000128564			12684	protein-coding gene	gene with protein product	"""neuro-endocrine specific protein VGF"""	602186				9344675	Standard	NM_003378		Approved		uc003uxx.4	O15240	OTTHUMG00000157109	ENST00000249330.2:c.90G>A	7.37:g.100808035C>T							p.A30A	NM_003378	NP_003369	O15240	VGF_HUMAN			2	308	-	Lung NSC(181;0.168)|all_lung(186;0.215)		30					Q9UDW8	Silent	SNP	ENST00000249330.2	37	c.90G>A	CCDS5712.1																																																																																				0.652	VGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347462.1		NM_003378		4	21	0	0	0	1	0	4	21		
PSMC2	5701	broad.mit.edu	37	7	102996214	102996214	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr7:102996214G>C	ENST00000435765.1	+	5	675	c.264G>C	c.(262-264)caG>caC	p.Q88H	SLC26A5_ENST00000356767.4_Intron|PSMC2_ENST00000292644.3_Missense_Mutation_p.Q88H|SLC26A5_ENST00000339444.6_Intron|SLC26A5_ENST00000393735.2_Intron|PSMC2_ENST00000544811.1_Intron	NM_002803.3	NP_002794.1	P35998	PRS7_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 2	88					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)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|osteoblast differentiation (GO:0001649)|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)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	21						AGACACTCCAGAGTGAACAGC	0.453																																						uc003vbs.2		NaN																	0					0						c.(262-264)CAG>CAC		proteasome 26S ATPase subunit 2							61.0	60.0	61.0					7																	102996214		2203	4300	6503	SO:0001583	missense	5701				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding	g.chr7:102996214G>C	D11094	CCDS5731.1	7q22.1-q22.3	2010-04-21			ENSG00000161057	ENSG00000161057		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9548	protein-coding gene	gene with protein product	"""proteasome 26S subunit, ATPase, 2"", ""mammalian suppressor of sgv-1 of yeast"", ""protease 26S subunit 7"", ""putative protein product of Nbla10058"""	154365				9473509, 1377363	Standard	NM_002803		Approved	MSS1, S7, Nbla10058	uc003vbs.3	P35998	OTTHUMG00000157206	ENST00000435765.1:c.264G>C	7.37:g.102996214G>C	ENSP00000391211:p.Gln88His					SLC26A5_uc003vbt.1_Intron|SLC26A5_uc003vbu.1_Intron|SLC26A5_uc003vbv.1_Intron|PSMC2_uc011kln.1_Missense_Mutation_p.Q88H|PSMC2_uc011klo.1_Intron	p.Q88H	NM_002803	NP_002794	P35998	PRS7_HUMAN			4	334	+			88					A4D0Q1|B7Z5E2|Q3LIA5|Q9UDI3	Missense_Mutation	SNP	ENST00000435765.1	37	c.264G>C	CCDS5731.1	.	.	.	.	.	.	.	.	.	.	G	14.46	2.543199	0.45280	.	.	ENSG00000161057	ENST00000457587;ENST00000425206;ENST00000435765;ENST00000292644	D;D	0.94723	-3.5;-3.5	5.31	4.43	0.53597	.	0.000000	0.85682	D	0.000000	D	0.93910	0.8051	M	0.86097	2.795	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	D	0.91760	0.5419	10	0.52906	T	0.07	-5.1517	11.2003	0.48736	0.1613:0.0:0.8387:0.0	.	88	P35998	PRS7_HUMAN	H	88	ENSP00000391211:Q88H;ENSP00000292644:Q88H	ENSP00000292644:Q88H	Q	+	3	2	PSMC2	102783450	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.221000	0.51215	1.372000	0.46190	0.555000	0.69702	CAG		0.453	PSMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347922.1		NM_002803		31	22	0	0	0	1	0	31	22		
KMT2E	55904	broad.mit.edu	37	7	104748167	104748167	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr7:104748167C>T	ENST00000311117.3	+	22	3808	c.3263C>T	c.(3262-3264)aCa>aTa	p.T1088I	KMT2E_ENST00000334877.4_Missense_Mutation_p.T1088I|KMT2E_ENST00000257745.4_Missense_Mutation_p.T1088I|KMT2E_ENST00000334914.7_Missense_Mutation_p.T143I|SRPK2_ENST00000493638.1_5'Flank|CTB-152G17.6_ENST00000607968.1_RNA	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	1088					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)										AGGGACCTGACACCCTCGCAT	0.493																																						uc003vcm.2		NaN																	0				ovary(2)|pancreas(1)	3						c.(3262-3264)ACA>ATA		myeloid/lymphoid or mixed-lineage leukemia 5							83.0	82.0	82.0					7																	104748167		2203	4300	6503	SO:0001583	missense	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.chr7:104748167C>T	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.3263C>T	7.37:g.104748167C>T	ENSP00000312379:p.Thr1088Ile					MLL5_uc010ljc.2_Missense_Mutation_p.T1088I|MLL5_uc010lje.1_RNA|MLL5_uc010ljf.1_RNA|MLL5_uc010ljg.2_5'UTR|MLL5_uc010ljh.1_5'Flank	p.T1088I	NM_182931	NP_891847	Q8IZD2	MLL5_HUMAN			22	3797	+			1088					B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Missense_Mutation	SNP	ENST00000311117.3	37	c.3263C>T	CCDS34723.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.030710	0.93575	.	.	ENSG00000005483	ENST00000311117;ENST00000393656;ENST00000334877;ENST00000351043;ENST00000257745;ENST00000334914	D;D;D;T	0.95103	-3.61;-2.95;-3.61;0.1	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	D	0.95890	0.8662	L	0.34521	1.04	0.58432	D	0.999998	D	0.76494	0.999	D	0.83275	0.996	D	0.96014	0.9004	10	0.72032	D	0.01	.	20.5666	0.99351	0.0:1.0:0.0:0.0	.	1088	Q8IZD2	MLL5_HUMAN	I	1088;1088;1088;1008;1088;143	ENSP00000312379:T1088I;ENSP00000335599:T1088I;ENSP00000257745:T1088I;ENSP00000333986:T143I	ENSP00000257745:T1088I	T	+	2	0	MLL5	104535403	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.263000	0.78421	2.854000	0.98071	0.655000	0.94253	ACA		0.493	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348697.1				4	42	0	0	0	1	0	4	42		
LAMB1	3912	broad.mit.edu	37	7	107564523	107564523	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr7:107564523C>G	ENST00000222399.6	-	34	5464	c.5234G>C	c.(5233-5235)aGa>aCa	p.R1745T	LAMB1_ENST00000393561.1_Missense_Mutation_p.R1769T	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	1745	Domain I.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						TTCATATTTTCTTTCTAAATC	0.303																																						uc003vew.2		NaN																	0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	8						c.(5233-5235)AGA>ACA		laminin, beta 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						76.0	75.0	75.0					7																	107564523		2202	4300	6502	SO:0001583	missense	3912				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	g.chr7:107564523C>G	M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"""Laminins"""	6486	protein-coding gene	gene with protein product		150240	"""cutis laxa with marfanoid phenotype"""	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.5234G>C	7.37:g.107564523C>G	ENSP00000222399:p.Arg1745Thr					LAMB1_uc003vev.2_Missense_Mutation_p.R1769T|LAMB1_uc003veu.2_Missense_Mutation_p.R228T	p.R1745T	NM_002291	NP_002282	P07942	LAMB1_HUMAN			34	5569	-			1745			Potential.|Domain I.		Q14D91	Missense_Mutation	SNP	ENST00000222399.6	37	c.5234G>C	CCDS5750.1	.	.	.	.	.	.	.	.	.	.	C	10.29	1.310087	0.23821	.	.	ENSG00000091136	ENST00000393561;ENST00000222399	D;D	0.94828	-3.53;-3.53	5.68	4.79	0.61399	.	.	.	.	.	D	0.87124	0.6099	N	0.19112	0.55	0.80722	D	1	B;B;B	0.31383	0.061;0.321;0.037	B;B;B	0.32980	0.028;0.156;0.028	T	0.81095	-0.1088	9	0.15499	T	0.54	.	7.0916	0.25287	0.0:0.7631:0.0:0.2369	.	1745;1769;1042	P07942;G3XAI2;Q8TAS6	LAMB1_HUMAN;.;.	T	1769;1745	ENSP00000377191:R1769T;ENSP00000222399:R1745T	ENSP00000222399:R1745T	R	-	2	0	LAMB1	107351759	0.962000	0.33011	1.000000	0.80357	0.995000	0.86356	1.550000	0.36223	2.835000	0.97688	0.650000	0.86243	AGA		0.303	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1		NM_002291		29	17	0	0	0	1	0	29	17		
LAMB1	3912	broad.mit.edu	37	7	107566684	107566684	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr7:107566684C>G	ENST00000222399.6	-	32	5238	c.5008G>C	c.(5008-5010)Gaa>Caa	p.E1670Q	LAMB1_ENST00000393561.1_Missense_Mutation_p.E1694Q	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	1670	Domain I.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						TCAATATATTCTGCCTCCCCG	0.423																																						uc003vew.2		NaN																	0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	8						c.(5008-5010)GAA>CAA		laminin, beta 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						128.0	122.0	124.0					7																	107566684		2203	4300	6503	SO:0001583	missense	3912				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	g.chr7:107566684C>G	M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"""Laminins"""	6486	protein-coding gene	gene with protein product		150240	"""cutis laxa with marfanoid phenotype"""	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.5008G>C	7.37:g.107566684C>G	ENSP00000222399:p.Glu1670Gln					LAMB1_uc003vev.2_Missense_Mutation_p.E1694Q|LAMB1_uc003veu.2_Missense_Mutation_p.E153Q	p.E1670Q	NM_002291	NP_002282	P07942	LAMB1_HUMAN			32	5343	-			1670			Potential.|Domain I.		Q14D91	Missense_Mutation	SNP	ENST00000222399.6	37	c.5008G>C	CCDS5750.1	.	.	.	.	.	.	.	.	.	.	C	13.64	2.296449	0.40594	.	.	ENSG00000091136	ENST00000393561;ENST00000222399	T;T	0.32988	1.43;1.43	5.83	4.9	0.64082	.	.	.	.	.	T	0.23410	0.0566	L	0.43152	1.355	0.80722	D	1	B;P;B	0.35684	0.004;0.515;0.014	B;B;B	0.35607	0.002;0.206;0.007	T	0.02214	-1.1194	9	0.25751	T	0.34	.	7.1686	0.25706	0.0:0.7112:0.1461:0.1426	.	1670;1694;967	P07942;G3XAI2;Q8TAS6	LAMB1_HUMAN;.;.	Q	1694;1670	ENSP00000377191:E1694Q;ENSP00000222399:E1670Q	ENSP00000222399:E1670Q	E	-	1	0	LAMB1	107353920	0.867000	0.29959	0.995000	0.50966	0.994000	0.84299	2.125000	0.42016	2.749000	0.94314	0.650000	0.86243	GAA		0.423	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1		NM_002291		15	81	0	0	0	1	0	15	81		
NRCAM	4897	broad.mit.edu	37	7	107849877	107849877	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr7:107849877C>G	ENST00000425651.2	-	9	1062	c.1063G>C	c.(1063-1065)Gtt>Ctt	p.V355L	NRCAM_ENST00000351718.4_Missense_Mutation_p.V349L|NRCAM_ENST00000379024.4_Missense_Mutation_p.V336L|NRCAM_ENST00000379028.3_Missense_Mutation_p.V355L|NRCAM_ENST00000379022.4_Missense_Mutation_p.V355L|NRCAM_ENST00000413765.2_Missense_Mutation_p.V336L	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	355	Ig-like 3.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|neuron migration (GO:0001764)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron differentiation (GO:0045666)|protein localization (GO:0008104)|regulation of axon extension (GO:0030516)|retinal ganglion cell axon guidance (GO:0031290)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)	axon initial segment (GO:0043194)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ankyrin binding (GO:0030506)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						TTAACTCTAACAGAAATGGTA	0.338																																						uc003vfb.2		NaN																	0				ovary(3)|breast(2)	5						c.(1063-1065)GTT>CTT		neuronal cell adhesion molecule isoform A							133.0	128.0	129.0					7																	107849877		2203	4300	6503	SO:0001583	missense	4897				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding	g.chr7:107849877C>G		CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	7q31	2013-02-11			ENSG00000091129	ENSG00000091129		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7994	protein-coding gene	gene with protein product	"""NgCAM-related cell adhesion molecule"""	601581				8812479	Standard	NM_001037132		Approved	KIAA0343, Bravo	uc022aka.1	Q92823	OTTHUMG00000154973	ENST00000425651.2:c.1063G>C	7.37:g.107849877C>G	ENSP00000401244:p.Val355Leu					NRCAM_uc003vfc.2_Missense_Mutation_p.V349L|NRCAM_uc011kmk.1_Missense_Mutation_p.V350L|NRCAM_uc003vfd.2_Missense_Mutation_p.V331L|NRCAM_uc003vfe.2_Missense_Mutation_p.V331L	p.V355L	NM_001037132	NP_001032209	Q92823	NRCAM_HUMAN			12	1534	-			355			Ig-like 3.|Extracellular (Potential).		A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Missense_Mutation	SNP	ENST00000425651.2	37	c.1063G>C	CCDS47686.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.975348	0.92919	.	.	ENSG00000091129	ENST00000379032;ENST00000379028;ENST00000413765;ENST00000537765;ENST00000351718;ENST00000379024;ENST00000425651;ENST00000379022;ENST00000445979;ENST00000417701	T;T;T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.68;0.68;0.68	5.8	5.8	0.92144	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.58192	0.2105	L	0.31207	0.915	0.80722	D	1	D;D;D;D;D	0.89917	0.998;1.0;1.0;1.0;0.999	D;D;D;D;D	0.97110	0.979;0.997;1.0;0.998;0.942	T	0.48603	-0.9021	10	0.20519	T	0.43	.	19.6473	0.95784	0.0:1.0:0.0:0.0	.	355;336;336;349;355	Q92823-5;Q92823-3;E9PDA4;Q92823-4;Q92823	.;.;.;.;NRCAM_HUMAN	L	355;355;336;355;349;336;355;355;349;349	ENSP00000368314:V355L;ENSP00000407858:V336L;ENSP00000325269:V349L;ENSP00000368310:V336L;ENSP00000401244:V355L;ENSP00000368308:V355L;ENSP00000390421:V349L	ENSP00000325269:V349L	V	-	1	0	NRCAM	107637113	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.959000	0.76031	2.737000	0.93849	0.563000	0.77884	GTT		0.338	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337942.2		NM_001037132		47	61	0	0	0	1	0	47	61		
FOXP2	93986	broad.mit.edu	37	7	114299708	114299708	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr7:114299708C>T	ENST00000393494.2	+	13	1906	c.1627C>T	c.(1627-1629)Cgt>Tgt	p.R543C	FOXP2_ENST00000393498.2_Missense_Mutation_p.R522C|FOXP2_ENST00000393491.3_Missense_Mutation_p.R358C|FOXP2_ENST00000393500.3_3'UTR|FOXP2_ENST00000408937.3_Missense_Mutation_p.R568C|FOXP2_ENST00000350908.4_Missense_Mutation_p.R543C|FOXP2_ENST00000403559.4_Missense_Mutation_p.R560C|FOXP2_ENST00000393489.3_Missense_Mutation_p.R451C			O15409	FOXP2_HUMAN	forkhead box P2	543					camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						TTACTTCAGGCGTAATGCAGC	0.393																																						uc003vhb.2		NaN																	0				ovary(4)|pancreas(1)|lung(1)|breast(1)|skin(1)	8						c.(1627-1629)CGT>TGT		forkhead box P2 isoform I							134.0	127.0	129.0					7																	114299708		2203	4300	6503	SO:0001583	missense	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr7:114299708C>T	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"""Forkhead boxes"""	13875	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 10"", ""forkhead/winged-helix transcription factor"", ""speech and language disorder 1"", ""CAG repeat protein 44"""	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.1627C>T	7.37:g.114299708C>T	ENSP00000377132:p.Arg543Cys					FOXP2_uc003vgu.2_RNA|FOXP2_uc003vgz.2_Missense_Mutation_p.R568C|FOXP2_uc003vha.2_Missense_Mutation_p.R451C|FOXP2_uc011kmu.1_Missense_Mutation_p.R560C|FOXP2_uc011kmv.1_Missense_Mutation_p.R542C|FOXP2_uc010ljz.1_Missense_Mutation_p.R358C|FOXP2_uc003vhe.1_Missense_Mutation_p.R113C	p.R543C	NM_014491	NP_055306	O15409	FOXP2_HUMAN			13	2001	+			543			Fork-head.		A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Missense_Mutation	SNP	ENST00000393494.2	37	c.1627C>T	CCDS5760.1	.	.	.	.	.	.	.	.	.	.	C	14.34	2.506526	0.44558	.	.	ENSG00000128573	ENST00000393494;ENST00000408937;ENST00000403559;ENST00000350908;ENST00000393498;ENST00000393489;ENST00000393491	D;D;D;D;D;D	0.95622	-3.76;-3.76;-3.76;-3.76;-3.76;-3.76	6.06	6.06	0.98353	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.000000	0.85682	D	0.000000	D	0.98157	0.9391	M	0.87381	2.88	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.83275	0.993;0.995;0.996;0.993;0.992	D	0.98281	1.0508	10	0.87932	D	0	.	20.6244	0.99512	0.0:1.0:0.0:0.0	.	542;560;358;543;568	B7ZLK5;B4DLD9;Q0PRL4;O15409;O15409-4	.;.;.;FOXP2_HUMAN;.	C	543;568;560;543;520;451;358	ENSP00000377132:R543C;ENSP00000386200:R568C;ENSP00000385069:R560C;ENSP00000265436:R543C;ENSP00000377129:R451C;ENSP00000377130:R358C	ENSP00000265436:R543C	R	+	1	0	FOXP2	114086944	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.879000	0.98667	0.650000	0.86243	CGT		0.393	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1		NM_014491		17	91	0	0	0	1	0	17	91		
CFTR	1080	broad.mit.edu	37	7	117232152	117232152	+	Missense_Mutation	SNP	T	T	C	rs121908779		TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr7:117232152T>C	ENST00000003084.6	+	14	2063	c.1931T>C	c.(1930-1932)cTc>cCc	p.L644P	CFTR_ENST00000454343.1_Missense_Mutation_p.L583P	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	644	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	AGCTCAAAACTCATGGGATGT	0.373									Cystic Fibrosis																													uc003vjd.2		NaN																	0				central_nervous_system(2)|skin(2)|ovary(1)	5						c.(1930-1932)CTC>CCC		cystic fibrosis transmembrane conductance	Bumetanide(DB00887)|Glibenclamide(DB01016)						69.0	70.0	70.0					7																	117232152		2203	4300	6503	SO:0001583	missense	1080	Cystic_Fibrosis	Familial Cancer Database	CF	respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding	g.chr7:117232152T>C	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"""Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators"", ""ATP binding cassette transporters / subfamily C"""	1884	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family C, member 7"""	602421	"""cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"""	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.1931T>C	7.37:g.117232152T>C	ENSP00000003084:p.Leu644Pro					CFTR_uc011knq.1_Missense_Mutation_p.L50P	p.L644P	NM_000492	NP_000483	P13569	CFTR_HUMAN	STAD - Stomach adenocarcinoma(10;0.000534)		14	2063	+	Lung NSC(10;0.00148)|all_lung(10;0.00171)		644			Cytoplasmic (Potential).|ABC transporter 1.		Q20BG8|Q20BH2|Q2I0A1|Q2I102	Missense_Mutation	SNP	ENST00000003084.6	37	c.1931T>C	CCDS5773.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.309369	0.81247	.	.	ENSG00000001626	ENST00000003084;ENST00000454343;ENST00000426809	D;D;D	0.97924	-4.61;-4.61;-4.61	5.63	5.63	0.86233	ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.98707	0.9566	M	0.83953	2.67	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99839	1.1060	10	0.87932	D	0	-14.9966	16.1358	0.81487	0.0:0.0:0.0:1.0	.	644	P13569	CFTR_HUMAN	P	644;583;614	ENSP00000003084:L644P;ENSP00000403677:L583P;ENSP00000389119:L614P	ENSP00000003084:L644P	L	+	2	0	CFTR	117019388	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.425000	0.80255	2.261000	0.74972	0.460000	0.39030	CTC		0.373	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059397.3		NM_000492		23	86	0	0	0	1	0	23	86		
AASS	10157	broad.mit.edu	37	7	121773712	121773712	+	Missense_Mutation	SNP	T	T	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr7:121773712T>A	ENST00000393376.1	-	1	164	c.69A>T	c.(67-69)aaA>aaT	p.K23N	AASS_ENST00000417368.2_Missense_Mutation_p.K23N|AASS_ENST00000473553.1_Intron			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	23					cellular nitrogen compound metabolic process (GO:0034641)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity (GO:0047131)|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity (GO:0047130)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54						CCAACACAGCTTTGTGGTGAA	0.557																																						uc003vka.2		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(67-69)AAA>AAT		aminoadipate-semialdehyde synthase precursor	L-Glutamic Acid(DB00142)|NADH(DB00157)						115.0	113.0	114.0					7																	121773712		2203	4300	6503	SO:0001583	missense	10157				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity	g.chr7:121773712T>A	AF229180	CCDS5783.1	7q31.3	2010-12-14			ENSG00000008311	ENSG00000008311			17366	protein-coding gene	gene with protein product		605113				10775527	Standard	NM_005763		Approved	LORSDH, LKRSDH	uc003vkb.3	Q9UDR5	OTTHUMG00000157058	ENST00000393376.1:c.69A>T	7.37:g.121773712T>A	ENSP00000377040:p.Lys23Asn					AASS_uc011knu.1_RNA|AASS_uc011knv.1_RNA|AASS_uc003vkb.2_Missense_Mutation_p.K23N|AASS_uc011knw.1_Intron	p.K23N	NM_005763	NP_005754	Q9UDR5	AASS_HUMAN			1	165	-			23					O95462	Missense_Mutation	SNP	ENST00000393376.1	37	c.69A>T	CCDS5783.1	.	.	.	.	.	.	.	.	.	.	.	14.42	2.531539	0.45073	.	.	ENSG00000008311	ENST00000393376;ENST00000417368	.	.	.	5.6	-6.84	0.01687	.	0.178906	0.64402	N	0.000017	T	0.27933	0.0688	L	0.32530	0.975	0.29893	N	0.825089	B	0.18166	0.026	B	0.15484	0.013	T	0.10730	-1.0617	9	0.20046	T	0.44	-10.25	12.6975	0.57012	0.0916:0.7061:0.0:0.2023	.	23	Q9UDR5	AASS_HUMAN	N	23	.	ENSP00000351834:K23N	K	-	3	2	AASS	121560948	0.123000	0.22298	0.026000	0.17262	0.747000	0.42532	0.096000	0.15147	-1.558000	0.01690	-0.468000	0.05107	AAA		0.557	AASS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347300.1		NM_005763		107	72	0	0	0	1	0	107	72		
RNF148	378925	broad.mit.edu	37	7	122342732	122342732	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr7:122342732G>C	ENST00000434824.1	-	1	289	c.73C>G	c.(73-75)Cta>Gta	p.L25V	CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000449022.2_Intron|RNF148_ENST00000447240.1_Missense_Mutation_p.L25V|CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000313070.7_Intron	NM_198085.1	NP_932351.1	Q8N7C7	RN148_HUMAN	ring finger protein 148	25						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(6)|lung(7)	16						CTAAGTAGTAGAAAGATACTA	0.403																																						uc003vkk.1		NaN																	0					0						c.(73-75)CTA>GTA		ring finger protein 148 precursor							52.0	45.0	47.0					7																	122342732		1862	4099	5961	SO:0001583	missense	378925					integral to membrane	zinc ion binding	g.chr7:122342732G>C	BC029264	CCDS47692.1	7q31.33	2013-01-09			ENSG00000235631	ENSG00000235631		"""RING-type (C3HC4) zinc fingers"""	22411	protein-coding gene	gene with protein product						8744354	Standard	NM_198085		Approved	MGC35222	uc003vkk.1	Q8N7C7	OTTHUMG00000157099	ENST00000434824.1:c.73C>G	7.37:g.122342732G>C	ENSP00000388207:p.Leu25Val					CADPS2_uc010lkp.2_Intron|CADPS2_uc010lkq.2_Intron|RNF148_uc010lkr.1_Missense_Mutation_p.L25V	p.L25V	NM_198085	NP_932351	Q8N7C7	RN148_HUMAN			1	290	-			25					A4D0X4|Q8N308	Missense_Mutation	SNP	ENST00000434824.1	37	c.73C>G	CCDS47692.1	.	.	.	.	.	.	.	.	.	.	G	0.167	-1.075695	0.01903	.	.	ENSG00000235631	ENST00000434824;ENST00000447240	T	0.04809	3.55	5.4	2.56	0.30785	.	.	.	.	.	T	0.06600	0.0169	L	0.44542	1.39	0.09310	N	0.999999	P;B	0.52316	0.952;0.451	P;B	0.48488	0.579;0.112	T	0.33929	-0.9849	9	0.40728	T	0.16	.	4.6531	0.12605	0.3124:0.0:0.5462:0.1414	.	25;25	C9JVJ0;Q8N7C7	.;RN148_HUMAN	V	25	ENSP00000388207:L25V	ENSP00000388207:L25V	L	-	1	2	RNF148	122129968	0.359000	0.24955	0.026000	0.17262	0.379000	0.30106	0.641000	0.24720	0.237000	0.21200	0.555000	0.69702	CTA		0.403	RNF148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347424.1		NM_198085		5	27	0	0	0	1	0	5	27		
SLC13A1	6561	broad.mit.edu	37	7	122839945	122839945	+	Missense_Mutation	SNP	G	G	A	rs369965765		TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr7:122839945G>A	ENST00000194130.2	-	1	95	c.56C>T	c.(55-57)aCt>aTt	p.T19I		NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	19					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	AACCAACACAGTGAAAACCAC	0.433																																						uc003vkm.2		NaN																	0				ovary(2)	2						c.(55-57)ACT>ATT		solute carrier family 13 (sodium/sulfate	Succinic acid(DB00139)						136.0	105.0	116.0					7																	122839945		2203	4300	6503	SO:0001583	missense	6561					integral to membrane|plasma membrane	sodium:sulfate symporter activity	g.chr7:122839945G>A		CCDS5786.1	7q31.32	2013-07-18	2013-07-18		ENSG00000081800	ENSG00000081800		"""Solute carriers"""	10916	protein-coding gene	gene with protein product		606193	"""solute carrier family 13 (sodium/sulphate symporters), member 1"""			11161786	Standard	NM_022444		Approved	NaSi-1, NAS1	uc003vkm.3	Q9BZW2	OTTHUMG00000157087	ENST00000194130.2:c.56C>T	7.37:g.122839945G>A	ENSP00000194130:p.Thr19Ile					SLC13A1_uc010lks.2_5'UTR	p.T19I	NM_022444	NP_071889	Q9BZW2	S13A1_HUMAN			1	81	-			19			Helical; (Potential).		Q9H5Z0	Missense_Mutation	SNP	ENST00000194130.2	37	c.56C>T	CCDS5786.1	.	.	.	.	.	.	.	.	.	.	G	1.877	-0.458714	0.04508	.	.	ENSG00000081800	ENST00000194130	T	0.02737	4.18	5.73	1.65	0.23941	.	0.409870	0.27539	N	0.018920	T	0.03827	0.0108	L	0.49640	1.575	0.09310	N	1	P	0.36354	0.549	B	0.36534	0.227	T	0.34527	-0.9825	10	0.10111	T	0.7	.	16.8115	0.85722	0.0:0.4705:0.5295:0.0	.	19	Q9BZW2	S13A1_HUMAN	I	19	ENSP00000194130:T19I	ENSP00000194130:T19I	T	-	2	0	SLC13A1	122627181	0.022000	0.18835	0.001000	0.08648	0.023000	0.10783	1.158000	0.31737	0.009000	0.14813	-0.165000	0.13383	ACT		0.433	SLC13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347404.1		NM_022444		25	21	0	0	0	1	0	25	21		
IQUB	154865	broad.mit.edu	37	7	123152297	123152297	+	Nonsense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr7:123152297G>C	ENST00000466202.1	-	2	674	c.98C>G	c.(97-99)tCa>tGa	p.S33*	IQUB_ENST00000434450.1_Nonsense_Mutation_p.S33*|IQUB_ENST00000488987.1_Intron|IQUB_ENST00000324698.6_Nonsense_Mutation_p.S33*	NM_001282855.1	NP_001269784.1	Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	33					cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	acrosomal vesicle (GO:0001669)|motile cilium (GO:0031514)				breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						AGGCTCTTCTGAGGGAACTGG	0.398																																						uc003vkn.2		NaN																	0				ovary(3)|large_intestine(1)	4						c.(97-99)TCA>TGA		IQ motif and ubiquitin domain containing							156.0	143.0	148.0					7																	123152297		2203	4300	6503	SO:0001587	stop_gained	154865							g.chr7:123152297G>C	AK093153	CCDS5787.1	7q31.32	2010-03-19			ENSG00000164675	ENSG00000164675			21995	protein-coding gene	gene with protein product							Standard	NM_178827		Approved	FLJ35834	uc003vko.3	Q8NA54	OTTHUMG00000157347	ENST00000466202.1:c.98C>G	7.37:g.123152297G>C	ENSP00000417769:p.Ser33*					IQUB_uc003vko.2_Nonsense_Mutation_p.S33*|IQUB_uc010lkt.2_RNA|IQUB_uc003vkp.1_Nonsense_Mutation_p.S33*|IQUB_uc003vkq.2_Nonsense_Mutation_p.S33*	p.S33*	NM_178827	NP_849149	Q8NA54	IQUB_HUMAN			2	675	-			33					A4D0X0|Q49AL6|Q4G189|Q5BJD9|Q6NUH6|Q8N9Y2	Nonsense_Mutation	SNP	ENST00000466202.1	37	c.98C>G	CCDS5787.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.910289	0.92107	.	.	ENSG00000164675	ENST00000466202;ENST00000324698;ENST00000434450	.	.	.	4.97	0.88	0.19161	.	0.382836	0.17440	N	0.174163	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	3.5751	0.07932	0.2821:0.0:0.5435:0.1744	.	.	.	.	X	33	.	ENSP00000324882:S33X	S	-	2	0	IQUB	122939533	0.075000	0.21258	0.001000	0.08648	0.662000	0.39071	1.425000	0.34859	0.378000	0.24764	0.557000	0.71058	TCA		0.398	IQUB-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348529.1		NM_178827		20	133	0	0	0	1	0	20	133		
SPAM1	6677	broad.mit.edu	37	7	123594167	123594167	+	Silent	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr7:123594167C>G	ENST00000439500.1	+	4	1156	c.543C>G	c.(541-543)ctC>ctG	p.L181L	SPAM1_ENST00000402183.2_Silent_p.L181L|SPAM1_ENST00000223028.7_Silent_p.L181L|SPAM1_ENST00000460182.1_Silent_p.L181L|SPAM1_ENST00000340011.5_Silent_p.L181L	NM_001174045.1|NM_001174046.1	NP_001167516.1|NP_001167517.1	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	181					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	hyalurononglucosaminidase activity (GO:0004415)			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						AACTTAGTCTCACAGAGGCCA	0.388																																						uc003vld.2		NaN																	0				ovary(3)|kidney(1)	4						c.(541-543)CTC>CTG		sperm adhesion molecule 1 isoform 2	Hyaluronidase(DB00070)						60.0	63.0	62.0					7																	123594167		2202	4299	6501	SO:0001819	synonymous_variant	6677				binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity	g.chr7:123594167C>G	L13781	CCDS5790.1, CCDS5791.1	7q31	2008-05-02			ENSG00000106304	ENSG00000106304			11217	protein-coding gene	gene with protein product		600930				8282124, 8575780	Standard	NM_153189		Approved	HYAL5, PH-20, SPAG15	uc003vle.3	P38567	OTTHUMG00000157284	ENST00000439500.1:c.543C>G	7.37:g.123594167C>G						SPAM1_uc003vle.2_Silent_p.L181L|SPAM1_uc011koa.1_5'Flank|SPAM1_uc003vlf.3_Silent_p.L181L|SPAM1_uc010lku.2_Silent_p.L181L	p.L181L	NM_153189	NP_694859	P38567	HYALP_HUMAN			4	945	+			181					Q8TC30	Silent	SNP	ENST00000439500.1	37	c.543C>G	CCDS5791.1																																																																																				0.388	SPAM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000348309.1				22	71	0	0	0	1	0	22	71		
ZNF800	168850	broad.mit.edu	37	7	127014383	127014383	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr7:127014383G>A	ENST00000393313.1	-	5	1598	c.1007C>T	c.(1006-1008)tCt>tTt	p.S336F	ZNF800_ENST00000485577.1_5'Flank|ZNF800_ENST00000265827.3_Missense_Mutation_p.S336F|ZNF800_ENST00000393312.1_Missense_Mutation_p.S336F			Q2TB10	ZN800_HUMAN	zinc finger protein 800	336					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)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						TTTTTTAGGAGAAATAGAATC	0.373																																						uc003vlx.1		NaN																	0				ovary(1)	1						c.(1006-1008)TCT>TTT		zinc finger protein 800							54.0	57.0	56.0					7																	127014383		2203	4300	6503	SO:0001583	missense	168850				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:127014383G>A	AF218032	CCDS5795.1	7q31.33	2008-05-02			ENSG00000048405	ENSG00000048405		"""Zinc fingers, C2H2-type"""	27267	protein-coding gene	gene with protein product						12477932	Standard	NM_176814		Approved		uc003vly.1	Q2TB10	OTTHUMG00000023456	ENST00000393313.1:c.1007C>T	7.37:g.127014383G>A	ENSP00000376989:p.Ser336Phe					ZNF800_uc003vlw.1_Missense_Mutation_p.S239F|ZNF800_uc003vly.1_Missense_Mutation_p.S336F|ZNF800_uc010lla.2_Missense_Mutation_p.S336F	p.S336F	NM_176814	NP_789784	Q2TB10	ZN800_HUMAN			5	1270	-			336					Q9HBN0	Missense_Mutation	SNP	ENST00000393313.1	37	c.1007C>T	CCDS5795.1	.	.	.	.	.	.	.	.	.	.	G	16.91	3.253372	0.59212	.	.	ENSG00000048405	ENST00000393313;ENST00000265827;ENST00000393312	T;T;T	0.17691	2.26;2.26;2.26	5.68	5.68	0.88126	.	0.162599	0.56097	D	0.000023	T	0.24314	0.0589	N	0.24115	0.695	0.33919	D	0.640617	D;D	0.65815	0.995;0.995	P;P	0.56278	0.795;0.795	T	0.02064	-1.1220	8	.	.	.	-0.4622	18.7799	0.91928	0.0:0.0:1.0:0.0	.	239;336	B7Z4V7;Q2TB10	.;ZN800_HUMAN	F	336	ENSP00000376989:S336F;ENSP00000265827:S336F;ENSP00000376988:S336F	.	S	-	2	0	ZNF800	126801619	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.294000	0.78760	2.685000	0.91497	0.650000	0.86243	TCT		0.373	ZNF800-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141823.1		NM_176814		35	59	0	0	0	1	0	35	59		
CALU	813	broad.mit.edu	37	7	128407602	128407602	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr7:128407602G>A	ENST00000249364.4	+	6	838	c.736G>A	c.(736-738)Gat>Aat	p.D246N	CALU_ENST00000542996.2_Missense_Mutation_p.D254N|CALU_ENST00000535011.2_Intron|CALU_ENST00000538546.1_Missense_Mutation_p.D95N|CALU_ENST00000449187.2_Missense_Mutation_p.D246N|CALU_ENST00000479257.1_Missense_Mutation_p.D254N|CALU_ENST00000535623.1_3'UTR	NM_001219.4	NP_001210.1	O43852	CALU_HUMAN	calumenin	246	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						TAAGAACCGTGATGGGAAGAT	0.493																																						uc003vns.2		NaN																	0					0						c.(736-738)GAT>AAT		calumenin isoform b precursor							185.0	173.0	177.0					7																	128407602		2203	4300	6503	SO:0001583	missense	813				platelet activation|platelet degranulation	extracellular region|Golgi apparatus|melanosome|sarcoplasmic reticulum lumen	calcium ion binding|protein binding	g.chr7:128407602G>A	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.736G>A	7.37:g.128407602G>A	ENSP00000249364:p.Asp246Asn					CALU_uc003vnq.2_Missense_Mutation_p.D246N|CALU_uc003vnr.2_Missense_Mutation_p.D246N	p.D246N	NM_001130674	NP_001124146	O43852	CALU_HUMAN			6	888	+			246			EF-hand 5.|5 (Potential).		B3KPG9|D6QS48|D6QS49|D6QS50|D6QS51|D6QS52|D6QS53|D6QS54|D6QS55|D6QS56|D6QS57|D6QS58|D6QS59|F5H1Q9|F5H879|O60456|Q6FHB9|Q96RL3|Q9NR43	Missense_Mutation	SNP	ENST00000249364.4	37	c.736G>A	CCDS5805.1	.	.	.	.	.	.	.	.	.	.	G	36	5.661144	0.96734	.	.	ENSG00000128595	ENST00000542996;ENST00000538546;ENST00000249364;ENST00000449187;ENST00000479257	T;T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05;-0.05	5.44	5.44	0.79542	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.79621	0.4477	M	0.78285	2.405	0.80722	D	1	D;D	0.89917	1.0;0.988	D;P	0.87578	0.998;0.831	T	0.80086	-0.1529	10	0.48119	T	0.1	-11.3196	16.7619	0.85514	0.0:0.0:1.0:0.0	.	254;246	D6QS48;O43852	.;CALU_HUMAN	N	254;95;246;246;254	ENSP00000438248:D254N;ENSP00000438994:D95N;ENSP00000249364:D246N;ENSP00000408838:D246N;ENSP00000420381:D254N	ENSP00000249364:D246N	D	+	1	0	CALU	128194838	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.843000	0.99491	2.561000	0.86390	0.563000	0.77884	GAT		0.493	CALU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350533.1		NM_001219		18	88	0	0	0	1	0	18	88		
NUP205	23165	broad.mit.edu	37	7	135303333	135303333	+	Missense_Mutation	SNP	A	A	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr7:135303333A>C	ENST00000285968.6	+	28	3971	c.3945A>C	c.(3943-3945)ttA>ttC	p.L1315F		NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1315					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						GTGATATTTTACAAGATGTGC	0.378																																						uc003vsw.2		NaN																	0				ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6						c.(3943-3945)TTA>TTC		nucleoporin 205kDa							163.0	146.0	152.0					7																	135303333		2203	4300	6503	SO:0001583	missense	23165				carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr7:135303333A>C	D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"""chromosome 7 open reading frame 14"""	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.3945A>C	7.37:g.135303333A>C	ENSP00000285968:p.Leu1315Phe					NUP205_uc003vsx.2_5'Flank	p.L1315F	NM_015135	NP_055950	Q92621	NU205_HUMAN			28	3976	+			1315					A6H8X3|Q86YC1	Missense_Mutation	SNP	ENST00000285968.6	37	c.3945A>C	CCDS34759.1	.	.	.	.	.	.	.	.	.	.	A	18.52	3.642198	0.67244	.	.	ENSG00000155561	ENST00000285968	T	0.37584	1.19	5.46	0.391	0.16282	.	0.000000	0.85682	D	0.000000	T	0.48150	0.1484	M	0.63843	1.955	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	T	0.36016	-0.9765	10	0.48119	T	0.1	-4.9715	6.1561	0.20338	0.5224:0.1331:0.3444:0.0	.	1315	Q92621	NU205_HUMAN	F	1315	ENSP00000285968:L1315F	ENSP00000285968:L1315F	L	+	3	2	NUP205	134953873	1.000000	0.71417	0.965000	0.40720	0.977000	0.68977	2.409000	0.44583	0.047000	0.15862	0.383000	0.25322	TTA		0.378	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340358.1				29	141	0	0	0	1	0	29	141		
DGKI	9162	broad.mit.edu	37	7	137271945	137271945	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr7:137271945G>C	ENST00000288490.5	-	13	1323	c.1323C>G	c.(1321-1323)atC>atG	p.I441M	DGKI_ENST00000453654.2_Missense_Mutation_p.I141M|DGKI_ENST00000424189.2_Missense_Mutation_p.I441M|DGKI_ENST00000446122.1_Missense_Mutation_p.I441M	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	441	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317)	cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						GGATGGAAAGGATCCAGCCCA	0.517																																						uc003vtt.2		NaN																	0				ovary(1)|kidney(1)|skin(1)	3						c.(1321-1323)ATC>ATG		diacylglycerol kinase, iota							50.0	48.0	49.0					7																	137271945		2203	4300	6503	SO:0001583	missense	9162				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chr7:137271945G>C	AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680		"""Ankyrin repeat domain containing"""	2855	protein-coding gene	gene with protein product		604072				9830018	Standard	NM_004717		Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000288490.5:c.1323C>G	7.37:g.137271945G>C	ENSP00000288490:p.Ile441Met					DGKI_uc003vtu.2_Missense_Mutation_p.I141M	p.I441M	NM_004717	NP_004708	O75912	DGKI_HUMAN			13	1324	-			441			DAGKc.		A4D1Q9|Q9NZ49	Missense_Mutation	SNP	ENST00000288490.5	37	c.1323C>G	CCDS5845.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.978957	0.74360	.	.	ENSG00000157680	ENST00000453654;ENST00000540376;ENST00000424189;ENST00000288490;ENST00000446122	T;T;T	0.24350	1.86;1.86;1.86	5.88	5.0	0.66597	Diacylglycerol kinase, catalytic domain (3);	0.000000	0.85682	D	0.000000	T	0.59115	0.2170	M	0.91459	3.21	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.69409	-0.5153	10	0.87932	D	0	.	13.7419	0.62853	0.0747:0.0:0.9253:0.0	.	141;441	E9PFX6;O75912	.;DGKI_HUMAN	M	141;389;441;441;441	ENSP00000392161:I141M;ENSP00000288490:I441M;ENSP00000399131:I441M	ENSP00000288490:I441M	I	-	3	3	DGKI	136922485	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.506000	0.73712	1.500000	0.48636	0.655000	0.94253	ATC		0.517	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341286.3		NM_004717		35	27	0	0	0	1	0	35	27		
KIAA1549	57670	broad.mit.edu	37	7	138588413	138588413	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr7:138588413G>A	ENST00000422774.1	-	8	3638	c.3590C>T	c.(3589-3591)gCc>gTc	p.A1197V	KIAA1549_ENST00000440172.1_Missense_Mutation_p.A1197V|KIAA1549_ENST00000242365.4_Missense_Mutation_p.A1147V			Q9HCM3	K1549_HUMAN	KIAA1549	1197						integral component of membrane (GO:0016021)			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GAGCAGCTGGGCCAGCTTGCG	0.532			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)	uc011kql.1		NaN		Dom	yes		7	7q34	57670	O	KIAA1549			O	BRAF		pilocytic astrocytoma	KIAA1549/BRAF(229)	0				central_nervous_system(229)|pancreas(1)	230						c.(3589-3591)GCC>GTC		hypothetical protein LOC57670 isoform 1							57.0	60.0	59.0					7																	138588413		2030	4179	6209	SO:0001583	missense	57670					integral to membrane		g.chr7:138588413G>A		CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.3590C>T	7.37:g.138588413G>A	ENSP00000416040:p.Ala1197Val					KIAA1549_uc003vuk.3_Missense_Mutation_p.A1147V|KIAA1549_uc011kqj.1_Missense_Mutation_p.A1197V	p.A1197V	NM_020910	NP_065961	Q9HCM3	K1549_HUMAN			8	3639	-			1197					B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Missense_Mutation	SNP	ENST00000422774.1	37	c.3590C>T	CCDS56513.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.621974	0.87460	.	.	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	T;T;T	0.69685	-0.41;-0.39;-0.42	4.61	3.72	0.42706	.	0.054956	0.64402	D	0.000001	T	0.80839	0.4700	M	0.78049	2.395	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.77004	0.989;0.98	D	0.83560	0.0106	10	0.87932	D	0	.	13.7992	0.63190	0.0:0.1546:0.8454:0.0	.	1197;1197	Q9HCM3;Q9HCM3-2	K1549_HUMAN;.	V	1197;1147;1197	ENSP00000406661:A1197V;ENSP00000242365:A1147V;ENSP00000416040:A1197V	ENSP00000242365:A1147V	A	-	2	0	KIAA1549	138238953	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.705000	0.91357	1.140000	0.42260	0.591000	0.81541	GCC		0.532	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1				6	21	0	0	0	1	0	6	21		
TBXAS1	6916	broad.mit.edu	37	7	139715540	139715540	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr7:139715540C>G	ENST00000336425.5	+	15	1633	c.1244C>G	c.(1243-1245)gCt>gGt	p.A415G	TBXAS1_ENST00000425687.1_Missense_Mutation_p.A348G|TBXAS1_ENST00000448866.1_Missense_Mutation_p.A415G|TBXAS1_ENST00000458722.1_Missense_Mutation_p.A461G|TBXAS1_ENST00000414508.2_Missense_Mutation_p.A416G|TBXAS1_ENST00000436047.2_Missense_Mutation_p.A416G|TBXAS1_ENST00000411653.1_Missense_Mutation_p.A415G|TBXAS1_ENST00000416849.2_Missense_Mutation_p.A462G|TBXAS1_ENST00000462275.1_3'UTR|TBXAS1_ENST00000263552.6_Missense_Mutation_p.A416G			P24557	THAS_HUMAN	thromboxane A synthase 1 (platelet)	415					arachidonic acid metabolic process (GO:0019369)|cellular chloride ion homeostasis (GO:0030644)|cyclooxygenase pathway (GO:0019371)|icosanoid metabolic process (GO:0006690)|positive regulation of vasoconstriction (GO:0045907)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)|thromboxane-A synthase activity (GO:0004796)			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)				Ridogrel(DB01207)|Sulfasalazine(DB00795)	CGGGAGGCAGCTCAGGACTGC	0.647																																						uc011kqv.1		NaN																	0				ovary(2)|breast(1)	3						c.(1384-1386)GCT>GGT		thromboxane A synthase 1, platelet isoform							55.0	53.0	53.0					7																	139715540		2203	4300	6503	SO:0001583	missense	6916				hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity	g.chr7:139715540C>G	L36085	CCDS5855.1, CCDS5856.1, CCDS55174.1, CCDS55175.1	7q34-q35	2014-09-17	2008-07-31		ENSG00000059377	ENSG00000059377	5.3.99.5	"""Cytochrome P450s"""	11609	protein-coding gene	gene with protein product	"""cytochrome P450, family 5, subfamily A, polypeptide 1"""	274180	"""thromboxane A synthase 1 (platelet, cytochrome P450, subfamily V)"""			1714723, 8964509	Standard	NM_001061		Approved	CYP5, CYP5A1, THAS, TXS, TXAS, TS	uc011kqv.2	P24557	OTTHUMG00000157302	ENST00000336425.5:c.1244C>G	7.37:g.139715540C>G	ENSP00000338087:p.Ala415Gly					TBXAS1_uc003vvh.2_Missense_Mutation_p.A416G|TBXAS1_uc010lne.2_Missense_Mutation_p.A348G|TBXAS1_uc011kqu.1_Missense_Mutation_p.A367G|TBXAS1_uc003vvi.2_Missense_Mutation_p.A416G|TBXAS1_uc003vvj.2_Missense_Mutation_p.A416G|TBXAS1_uc011kqw.1_Missense_Mutation_p.A396G	p.A462G	NM_001130966	NP_001124438	P24557	THAS_HUMAN			12	1549	+	Melanoma(164;0.0142)		415			Cytoplasmic (Potential).		B4DJG6|E7EMU9|E7EP08|E7ESB5|O14987|Q16843|Q16844|Q8IUN1|Q96CN2|Q9GZW4|Q9HD77|Q9HD78|Q9HD79|Q9HD80|Q9HD81|Q9HD82|Q9HD83|Q9HD84	Missense_Mutation	SNP	ENST00000336425.5	37	c.1385C>G		.	.	.	.	.	.	.	.	.	.	C	10.72	1.429280	0.25726	.	.	ENSG00000059377	ENST00000425687;ENST00000263552;ENST00000336425;ENST00000416849;ENST00000436047;ENST00000414508;ENST00000448866;ENST00000458722;ENST00000411653	T;T;T;T;T;T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35;-0.35;-0.35;-0.35;-0.35;-0.35	4.61	2.72	0.32119	.	0.258348	0.37623	N	0.002012	T	0.64394	0.2594	L	0.41236	1.265	0.58432	D	0.999998	P;D;P;P;B;P;P	0.54207	0.875;0.965;0.853;0.87;0.018;0.507;0.507	P;P;P;P;B;B;B	0.55999	0.676;0.789;0.53;0.656;0.115;0.266;0.18	T	0.59215	-0.7496	10	0.29301	T	0.29	.	7.3857	0.26880	0.1644:0.7481:0.0:0.0875	.	396;462;367;348;416;416;415	B4DVP1;E7EP08;B4E0M5;E7ESB5;E7EMU9;Q53F23;P24557	.;.;.;.;.;.;THAS_HUMAN	G	348;416;415;462;416;416;415;461;415	ENSP00000388736:A348G;ENSP00000263552:A416G;ENSP00000338087:A415G;ENSP00000389414:A462G;ENSP00000392361:A416G;ENSP00000392702:A416G;ENSP00000402536:A415G;ENSP00000411274:A461G;ENSP00000411326:A415G	ENSP00000263552:A416G	A	+	2	0	TBXAS1	139362009	0.503000	0.26115	0.136000	0.22124	0.452000	0.32318	1.766000	0.38491	0.948000	0.37687	0.462000	0.41574	GCT		0.647	TBXAS1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000348373.1				13	85	0	0	0	1	0	13	85		
PRSS1	5644	broad.mit.edu	37	7	142459637	142459637	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr7:142459637G>A	ENST00000311737.7	+	3	219	c.213G>A	c.(211-213)gtG>gtA	p.V71V	PRSS1_ENST00000486171.1_Silent_p.V85V	NM_002769.4	NP_002760.1	P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	71	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		Aprotinin(DB06692)	GCATCCAGGTGAGACTGGGAG	0.577																																						uc003wak.2		NaN																	0				large_intestine(1)|central_nervous_system(1)	2						c.(211-213)GTG>GTA		protease, serine, 1 preproprotein							151.0	146.0	148.0					7																	142459637		2203	4300	6503	SO:0001819	synonymous_variant	5644	Hereditary_Pancreatitis			digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity	g.chr7:142459637G>A	M22612	CCDS5872.1	7q34	2012-10-02			ENSG00000204983	ENSG00000204983	3.4.21.4	"""Serine peptidases / Serine peptidases"""	9475	protein-coding gene	gene with protein product		276000		TRY1			Standard	NM_002769		Approved		uc003wak.2	P07477	OTTHUMG00000158923	ENST00000311737.7:c.213G>A	7.37:g.142459637G>A						uc011krr.1_Intron|uc003vzp.2_Intron|uc011ksh.1_Intron|uc011ksi.1_Intron|uc003vzw.1_Intron|uc010loj.1_Intron|uc003wad.2_Intron|uc003wag.1_Intron|TRY6_uc011ksn.1_Intron|PRSS1_uc011ksm.1_3'UTR|PRSS1_uc003wam.2_Silent_p.V11V	p.V71V	NM_002769	NP_002760	P07477	TRY1_HUMAN	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		3	230	+	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	71			Peptidase S1.		A1A509|A6NJ71|B2R5I5|Q5NV57|Q7M4N3|Q7M4N4|Q92955|Q9HAN4|Q9HAN5|Q9HAN6|Q9HAN7	Silent	SNP	ENST00000311737.7	37	c.213G>A	CCDS5872.1																																																																																				0.577	PRSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352538.2				12	198	0	0	0	1	0	12	198		
TAS2R40	259286	broad.mit.edu	37	7	142919411	142919411	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr7:142919411C>A	ENST00000408947.3	+	1	282	c.240C>A	c.(238-240)ttC>ttA	p.F80L	AC073342.1_ENST00000595842.1_5'Flank	NM_176882.1	NP_795363.1	P59535	T2R40_HUMAN	taste receptor, type 2, member 40	80					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8	Melanoma(164;0.059)					AGAACATTTTCAGTCTGCTAT	0.448																																						uc011ksx.1		NaN																	0				ovary(1)	1						c.(238-240)TTC>TTA		taste receptor, type 2, member 40							126.0	124.0	125.0					7																	142919411		1921	4142	6063	SO:0001583	missense	259286				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr7:142919411C>A	AF494229	CCDS43662.1	7q34	2012-08-22	2003-12-16		ENSG00000221937	ENSG00000221937		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18885	protein-coding gene	gene with protein product		613964	"""G protein-coupled receptor 60"""	GPR60		12379855	Standard	NM_176882		Approved		uc011ksx.2	P59535	OTTHUMG00000152638	ENST00000408947.3:c.240C>A	7.37:g.142919411C>A	ENSP00000386210:p.Phe80Leu						p.F80L	NM_176882	NP_795363	P59535	T2R40_HUMAN			1	240	+	Melanoma(164;0.059)		80			Extracellular (Potential).		A4D2I2|Q645W6	Missense_Mutation	SNP	ENST00000408947.3	37	c.240C>A	CCDS43662.1	.	.	.	.	.	.	.	.	.	.	C	9.501	1.103288	0.20632	.	.	ENSG00000221937	ENST00000408947	T	0.35605	1.3	4.95	0.979	0.19745	.	2.061580	0.03895	N	0.279318	T	0.16981	0.0408	N	0.11651	0.15	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.15925	-1.0420	10	0.12766	T	0.61	.	1.1759	0.01835	0.1484:0.3721:0.1452:0.3343	.	80	P59535	T2R40_HUMAN	L	80	ENSP00000386210:F80L	ENSP00000386210:F80L	F	+	3	2	TAS2R40	142629533	0.000000	0.05858	0.000000	0.03702	0.643000	0.38383	-0.050000	0.11904	0.258000	0.21686	0.655000	0.94253	TTC		0.448	TAS2R40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327097.1				27	83	1	0	2.48779e-11	1	2.68302e-11	27	83		
OR2A14	135941	broad.mit.edu	37	7	143826871	143826871	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr7:143826871C>T	ENST00000408899.2	+	1	721	c.666C>T	c.(664-666)gcC>gcT	p.A222A		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	222						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A222A(1)		large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					GCATCCTGGCCGCCATCTTGA	0.612																																						uc011kua.1		NaN																	1	Substitution - coding silent(1)		large_intestine(1)		0						c.(664-666)GCC>GCT		olfactory receptor, family 2, subfamily A,							116.0	120.0	119.0					7																	143826871		2057	4206	6263	SO:0001819	synonymous_variant	135941				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143826871C>T		CCDS43672.1	7q35	2013-09-20		2004-03-08	ENSG00000221938	ENSG00000221938		"""GPCR / Class A : Olfactory receptors"""	15084	protein-coding gene	gene with protein product				OR2A14P, OR2A6			Standard	NM_001001659		Approved	OST182	uc011kua.2	Q96R47	OTTHUMG00000158003	ENST00000408899.2:c.666C>T	7.37:g.143826871C>T							p.A222A	NM_001001659	NP_001001659	Q96R47	O2A14_HUMAN			1	666	+	Melanoma(164;0.0783)		222			Cytoplasmic (Potential).		Q6IF41|Q8NGT8	Silent	SNP	ENST00000408899.2	37	c.666C>T	CCDS43672.1																																																																																				0.612	OR2A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349980.1				114	124	0	0	0	1	0	114	124		
CUL1	8454	broad.mit.edu	37	7	148463737	148463737	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr7:148463737G>A	ENST00000325222.4	+	8	1153	c.874G>A	c.(874-876)Gaa>Aaa	p.E292K	CUL1_ENST00000602748.1_Missense_Mutation_p.E292K|CUL1_ENST00000409469.1_Missense_Mutation_p.E292K	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	292					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|viral process (GO:0016032)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|SCF ubiquitin ligase complex (GO:0019005)				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			AAGGAAATGTGAACAAGTCCT	0.378																																						uc010lpg.2		NaN																	0				lung(1)	1						c.(874-876)GAA>AAA		cullin 1							63.0	60.0	61.0					7																	148463737		2203	4300	6503	SO:0001583	missense	8454				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding	g.chr7:148463737G>A	U58087	CCDS34772.1	7q36.1	2011-05-24			ENSG00000055130	ENSG00000055130			2551	protein-coding gene	gene with protein product		603134				8681378	Standard	NM_003592		Approved		uc003wey.3	Q13616	OTTHUMG00000152776	ENST00000325222.4:c.874G>A	7.37:g.148463737G>A	ENSP00000326804:p.Glu292Lys					CUL1_uc003wey.2_Missense_Mutation_p.E292K|CUL1_uc003wez.2_Missense_Mutation_p.E182K	p.E292K	NM_003592	NP_003583	Q13616	CUL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00291)		8	1400	+	Melanoma(164;0.15)		292					D3DWG3|O60719|Q08AL6|Q8IYW1	Missense_Mutation	SNP	ENST00000325222.4	37	c.874G>A	CCDS34772.1	.	.	.	.	.	.	.	.	.	.	G	35	5.519607	0.96416	.	.	ENSG00000055130	ENST00000409469;ENST00000325222;ENST00000543583;ENST00000433865	T;T	0.75477	-0.94;-0.94	4.81	4.81	0.61882	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);	0.048471	0.85682	D	0.000000	D	0.88112	0.6349	M	0.93462	3.42	0.80722	D	1	D	0.62365	0.991	P	0.57468	0.821	D	0.91604	0.5297	10	0.72032	D	0.01	-13.5448	18.2561	0.90020	0.0:0.0:1.0:0.0	.	292	Q13616	CUL1_HUMAN	K	292;292;250;219	ENSP00000387160:E292K;ENSP00000326804:E292K	ENSP00000326804:E292K	E	+	1	0	CUL1	148094670	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.506000	0.97992	2.370000	0.80446	0.655000	0.94253	GAA		0.378	CUL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467785.1		NM_003592		14	54	0	0	0	1	0	14	54		
PDIA4	9601	broad.mit.edu	37	7	148702271	148702271	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr7:148702271G>C	ENST00000286091.4	-	9	1716	c.1484C>G	c.(1483-1485)tCt>tGt	p.S495C		NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	protein disulfide isomerase family A, member 4	495					cell redox homeostasis (GO:0045454)|chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein secretion (GO:0009306)|response to endoplasmic reticulum stress (GO:0034976)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)	poly(A) RNA binding (GO:0044822)|protein disulfide isomerase activity (GO:0003756)			large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			GAGGGTGTCAGAGTCAAACTC	0.597																																						uc003wff.2		NaN																	0				lung(5)|ovary(1)	6						c.(1483-1485)TCT>TGT		protein disulfide isomerase A4 precursor							191.0	169.0	176.0					7																	148702271		2203	4300	6503	SO:0001583	missense	9601				cell redox homeostasis|glycerol ether metabolic process|protein secretion	endoplasmic reticulum lumen|melanosome	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr7:148702271G>C	BC001928	CCDS5893.1	7q35	2009-11-20	2005-06-29		ENSG00000155660	ENSG00000155660	5.3.4.1	"""Protein disulfide isomerases"""	30167	protein-coding gene	gene with protein product			"""protein disulfide isomerase-associated 4"""			2549034, 2002068	Standard	NM_004911		Approved	ERP70, ERP72	uc003wff.2	P13667	OTTHUMG00000150248	ENST00000286091.4:c.1484C>G	7.37:g.148702271G>C	ENSP00000286091:p.Ser495Cys						p.S495C	NM_004911	NP_004902	P13667	PDIA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00385)		9	1766	-	Melanoma(164;0.15)		495					A8K4K6|Q549T6	Missense_Mutation	SNP	ENST00000286091.4	37	c.1484C>G	CCDS5893.1	.	.	.	.	.	.	.	.	.	.	G	13.74	2.328750	0.41197	.	.	ENSG00000155660	ENST00000286091	T	0.29655	1.56	5.57	4.66	0.58398	Thioredoxin-like fold (2);	0.407479	0.29715	N	0.011398	T	0.47210	0.1433	M	0.73962	2.25	0.23876	N	0.996596	D	0.58620	0.983	P	0.52217	0.693	T	0.48364	-0.9042	10	0.66056	D	0.02	.	15.4089	0.74902	0.0:0.0:0.8597:0.1403	.	495	P13667	PDIA4_HUMAN	C	495	ENSP00000286091:S495C	ENSP00000286091:S495C	S	-	2	0	PDIA4	148333204	0.997000	0.39634	0.002000	0.10522	0.079000	0.17450	7.676000	0.84012	1.278000	0.44430	0.655000	0.94253	TCT		0.597	PDIA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317077.1		NM_004911		8	155	0	0	0	1	0	8	155		
ABCB8	11194	broad.mit.edu	37	7	150737621	150737621	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr7:150737621G>C	ENST00000297504.6	+	12	1405	c.1339G>C	c.(1339-1341)Gag>Cag	p.E447Q	ABCB8_ENST00000542328.1_Missense_Mutation_p.E342Q|ABCB8_ENST00000356058.4_Nonstop_Mutation_p.*468S|ABCB8_ENST00000498578.1_Missense_Mutation_p.E430Q|ABCB8_ENST00000358849.4_Missense_Mutation_p.E430Q			Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 8	447					transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Doxorubicin(DB00997)	CCGGGTCTTTGAGTACATGGC	0.622																																						uc003wil.3		NaN																	0				breast(2)|upper_aerodigestive_tract(1)	3						c.(1339-1341)GAG>CAG		ATP-binding cassette, sub-family B, member 8							64.0	71.0	69.0					7																	150737621		2203	4300	6503	SO:0001583	missense	11194					ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr7:150737621G>C	AF047690	CCDS5913.1, CCDS64798.1, CCDS64799.1, CCDS64800.1	7q36.1	2012-05-16			ENSG00000197150	ENSG00000197150		"""ATP binding cassette transporters / subfamily B"""	49	protein-coding gene	gene with protein product	"""mitochondrial ABC protein"""	605464				8894702	Standard	NM_001282291		Approved	EST328128, M-ABC1, MABC1	uc003wik.4	Q9NUT2	OTTHUMG00000158686	ENST00000297504.6:c.1339G>C	7.37:g.150737621G>C	ENSP00000297504:p.Glu447Gln					ABCB8_uc010lpw.1_Missense_Mutation_p.E319Q|ABCB8_uc010lpx.2_Missense_Mutation_p.E430Q|ABCB8_uc011kvd.1_Missense_Mutation_p.E342Q|ABCB8_uc003wim.3_Missense_Mutation_p.E225Q|ABCB8_uc003wik.3_Missense_Mutation_p.E430Q	p.E447Q	NM_007188	NP_009119	Q9NUT2	ABCB8_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	12	1432	+			447					A5D8W3|B2RBL8|B3KND2|B4DG02|G3XAP3|O95787|Q53GM0	Missense_Mutation	SNP	ENST00000297504.6	37	c.1339G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.69|16.69	3.193575|3.193575	0.58017|0.58017	.|.	.|.	ENSG00000197150|ENSG00000197150	ENST00000358849;ENST00000360651;ENST00000297504;ENST00000542328;ENST00000498578|ENST00000356058	D;D;D;D|.	0.95622|.	-3.76;-3.76;-3.76;-3.76|.	4.68|4.68	4.68|4.68	0.58851|0.58851	ABC transporter, transmembrane domain, type 1 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.31199|.	0.0789|.	N|N	0.12569|0.12569	0.235|0.235	0.09310|0.09310	N|N	1|1	P;P;P;P|.	0.50710|.	0.938;0.897;0.897;0.938|.	P;P;P;P|.	0.60286|.	0.801;0.749;0.749;0.872|.	T|.	0.19257|.	-1.0311|.	10|.	0.45353|.	T|.	0.12|.	-3.7051|-3.7051	15.1554|15.1554	0.72735|0.72735	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	342;430;447;430|.	G3XAP3;A5D8W3;Q9NUT2;Q9NUT2-2|.	.;.;ABCB8_HUMAN;.|.	Q|S	430;413;447;342;430|468	ENSP00000351717:E430Q;ENSP00000297504:E447Q;ENSP00000438776:E342Q;ENSP00000418271:E430Q|.	ENSP00000297504:E447Q|.	E|X	+|+	1|2	0|2	ABCB8|ABCB8	150368554|150368554	1.000000|1.000000	0.71417|0.71417	0.986000|0.986000	0.45419|0.45419	0.983000|0.983000	0.72400|0.72400	8.947000|8.947000	0.93000|0.93000	2.423000|2.423000	0.82170|0.82170	0.561000|0.561000	0.74099|0.74099	GAG|TGA		0.622	ABCB8-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351733.2		NM_007188		33	46	0	0	0	1	0	33	46		
ABCB8	11194	broad.mit.edu	37	7	150737667	150737667	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr7:150737667G>T	ENST00000297504.6	+	12	1451	c.1385G>T	c.(1384-1386)tGc>tTc	p.C462F	ABCB8_ENST00000542328.1_Missense_Mutation_p.C357F|ABCB8_ENST00000356058.4_3'UTR|ABCB8_ENST00000498578.1_Missense_Mutation_p.C445F|ABCB8_ENST00000358849.4_Missense_Mutation_p.C445F			Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 8	462					transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Doxorubicin(DB00997)	GGGGGCTGCTGCGTCCCCAAA	0.647																																						uc003wil.3		NaN																	0				breast(2)|upper_aerodigestive_tract(1)	3						c.(1384-1386)TGC>TTC		ATP-binding cassette, sub-family B, member 8							70.0	77.0	74.0					7																	150737667		2203	4300	6503	SO:0001583	missense	11194					ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr7:150737667G>T	AF047690	CCDS5913.1, CCDS64798.1, CCDS64799.1, CCDS64800.1	7q36.1	2012-05-16			ENSG00000197150	ENSG00000197150		"""ATP binding cassette transporters / subfamily B"""	49	protein-coding gene	gene with protein product	"""mitochondrial ABC protein"""	605464				8894702	Standard	NM_001282291		Approved	EST328128, M-ABC1, MABC1	uc003wik.4	Q9NUT2	OTTHUMG00000158686	ENST00000297504.6:c.1385G>T	7.37:g.150737667G>T	ENSP00000297504:p.Cys462Phe					ABCB8_uc010lpw.1_Missense_Mutation_p.C334F|ABCB8_uc010lpx.2_Missense_Mutation_p.C445F|ABCB8_uc011kvd.1_Missense_Mutation_p.C357F|ABCB8_uc003wim.3_Missense_Mutation_p.C240F|ABCB8_uc003wik.3_Missense_Mutation_p.C445F	p.C462F	NM_007188	NP_009119	Q9NUT2	ABCB8_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	12	1478	+			462					A5D8W3|B2RBL8|B3KND2|B4DG02|G3XAP3|O95787|Q53GM0	Missense_Mutation	SNP	ENST00000297504.6	37	c.1385G>T		.	.	.	.	.	.	.	.	.	.	G	0.301	-0.973798	0.02215	.	.	ENSG00000197150	ENST00000358849;ENST00000360651;ENST00000297504;ENST00000542328;ENST00000498578	D;D;D;D	0.89939	-2.49;-2.49;-2.41;-2.59	4.53	-0.741	0.11112	.	0.510531	0.23005	N	0.053030	T	0.73536	0.3599	N	0.08118	0	0.09310	N	1	B;B;B;B	0.30104	0.268;0.055;0.106;0.092	B;B;B;B	0.33960	0.173;0.078;0.122;0.162	T	0.64972	-0.6281	10	0.49607	T	0.09	-5.1199	4.6694	0.12682	0.3386:0.2855:0.3758:0.0	.	357;445;462;445	G3XAP3;A5D8W3;Q9NUT2;Q9NUT2-2	.;.;ABCB8_HUMAN;.	F	445;428;462;357;445	ENSP00000351717:C445F;ENSP00000297504:C462F;ENSP00000438776:C357F;ENSP00000418271:C445F	ENSP00000297504:C462F	C	+	2	0	ABCB8	150368600	0.000000	0.05858	0.002000	0.10522	0.460000	0.32559	0.241000	0.18065	-0.082000	0.12640	0.561000	0.74099	TGC		0.647	ABCB8-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351733.2		NM_007188		34	48	1	0	1.42033e-22	1	1.59083e-22	34	48		
KMT2C	58508	broad.mit.edu	37	7	151962147	151962147	+	Missense_Mutation	SNP	T	T	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr7:151962147T>A	ENST00000262189.6	-	8	1378	c.1160A>T	c.(1159-1161)gAg>gTg	p.E387V	KMT2C_ENST00000355193.2_Missense_Mutation_p.E387V	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	387					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										CACTTTGCACTCAGGACATTG	0.413																																						uc003wla.2		NaN								N							medulloblastoma		0				large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63						c.(1159-1161)GAG>GTG		myeloid/lymphoid or mixed-lineage leukemia 3							296.0	272.0	280.0					7																	151962147		2203	4298	6501	SO:0001583	missense	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151962147T>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.1160A>T	7.37:g.151962147T>A	ENSP00000262189:p.Glu387Val						p.E387V	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	8	1379	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	387			PHD-type 1.|RING-type.		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.1160A>T	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	T	19.15	3.772364	0.69992	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.88354	-2.37;-2.37	4.65	4.65	0.58169	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.179375	0.26007	U	0.026919	D	0.89914	0.6853	M	0.71036	2.16	0.80722	D	1	D	0.54397	0.966	P	0.47299	0.543	D	0.91336	0.5093	10	0.87932	D	0	.	14.395	0.67005	0.0:0.0:0.0:1.0	.	387	Q8NEZ4	MLL3_HUMAN	V	387	ENSP00000262189:E387V;ENSP00000347325:E387V	ENSP00000262189:E387V	E	-	2	0	MLL3	151593080	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.997000	0.88414	1.843000	0.53566	0.455000	0.32223	GAG		0.413	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3				22	241	0	0	0	1	0	22	241		
RBM33	155435	broad.mit.edu	37	7	155534734	155534734	+	Silent	SNP	G	G	A	rs113181766		TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr7:155534734G>A	ENST00000401878.3	+	13	2469	c.2271G>A	c.(2269-2271)acG>acA	p.T757T		NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	757							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		AGGGAAAGACGGAAGTGAAAG	0.547																																						uc010lqk.1		NaN																	0				ovary(1)	1						c.(2269-2271)ACG>ACA		RNA binding motif protein 33							58.0	59.0	59.0					7																	155534734		2203	4300	6503	SO:0001819	synonymous_variant	155435						nucleotide binding|RNA binding	g.chr7:155534734G>A	AL832196	CCDS5941.2	7q36.3	2013-02-12			ENSG00000184863	ENSG00000184863		"""RNA binding motif (RRM) containing"""	27223	protein-coding gene	gene with protein product			"""proline rich 8"""	PRR8			Standard	NM_053043		Approved	DKFZp686F102, MGC20460, DKFZp434D1319	uc010lqk.1	Q96EV2	OTTHUMG00000150260	ENST00000401878.3:c.2271G>A	7.37:g.155534734G>A						RBM33_uc011kvv.1_Silent_p.T566T	p.T757T	NM_053043	NP_444271	Q96EV2	RBM33_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)	13	2639	+	all_neural(206;0.101)	all_hematologic(28;0.0592)	757					A4D244|B5MC24|Q52LF5|Q75LN9|Q75ML5|Q9NSV0	Silent	SNP	ENST00000401878.3	37	c.2271G>A	CCDS5941.2	.	.	.	.	.	.	.	.	.	.	G	7.088	0.571515	0.13623	.	.	ENSG00000184863	ENST00000392761	.	.	.	5.88	-11.8	0.00035	.	.	.	.	.	T	0.40839	0.1133	.	.	.	0.47949	D	0.999554	.	.	.	.	.	.	T	0.58493	-0.7627	4	.	.	.	.	5.5103	0.16876	0.2849:0.0996:0.4822:0.1333	.	.	.	.	Q	529	.	.	R	+	2	0	RBM33	155227495	0.049000	0.20398	0.000000	0.03702	0.712000	0.41017	-1.371000	0.02573	-4.346000	0.00055	-1.506000	0.00953	CGG		0.547	RBM33-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317225.3		NM_001008408		9	41	0	0	0	1	0	9	41		
CSMD1	64478	broad.mit.edu	37	8	3009031	3009031	+	Silent	SNP	G	G	T	rs369415888		TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:3009031G>T	ENST00000520002.1	-	41	6477	c.5922C>A	c.(5920-5922)acC>acA	p.T1974T	CSMD1_ENST00000542608.1_Silent_p.T1973T|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000602557.1_Silent_p.T1974T|CSMD1_ENST00000537824.1_Silent_p.T1973T|CSMD1_ENST00000602723.1_Silent_p.T1974T|CSMD1_ENST00000400186.3_Silent_p.T1974T|CSMD1_ENST00000539096.1_Silent_p.T1973T			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1974						integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TCCCTCCACAGGTTGCTGTTA	0.527																																						uc011kwk.1		NaN																	0				breast(20)|large_intestine(5)	25						c.(5920-5922)ACC>ACA		CUB and Sushi multiple domains 1 precursor							69.0	74.0	73.0					8																	3009031		2139	4267	6406	SO:0001819	synonymous_variant	64478					integral to membrane		g.chr8:3009031G>T			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.5922C>A	8.37:g.3009031G>T						CSMD1_uc011kwj.1_Silent_p.T1366T|CSMD1_uc003wqe.2_Silent_p.T1130T|CSMD1_uc010lrg.2_Silent_p.T42T	p.T1974T	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	40	6312	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	1974			Extracellular (Potential).		Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	ENST00000520002.1	37	c.5922C>A		.	.	.	.	.	.	.	.	.	.	G	0.516	-0.864189	0.02590	.	.	ENSG00000183117	ENST00000335551	.	.	.	4.83	-0.945	0.10388	.	.	.	.	.	T	0.48804	0.1520	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37888	-0.9686	4	.	.	.	.	4.7613	0.13110	0.0837:0.0976:0.2106:0.6081	.	.	.	.	M	1454	.	.	L	-	1	2	CSMD1	2996438	0.160000	0.22878	0.786000	0.31890	0.112000	0.19704	-0.553000	0.06012	0.090000	0.17273	0.650000	0.86243	CTG		0.527	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2		NM_033225		3	2	1	0	0.00909568	1	0.00914966	3	2		
PNOC	5368	broad.mit.edu	37	8	28196682	28196682	+	Silent	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:28196682C>A	ENST00000301908.3	+	3	460	c.252C>A	c.(250-252)ctC>ctA	p.L84L	RP11-380I10.4_ENST00000521731.1_RNA|PNOC_ENST00000522209.1_Silent_p.L20L	NM_006228.3	NP_006219.1	Q13519	PNOC_HUMAN	prepronociceptin	84					neuropeptide signaling pathway (GO:0007218)|sensory perception (GO:0007600)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)	neuropeptide hormone activity (GO:0005184)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5		Ovarian(32;0.000953)		KIRC - Kidney renal clear cell carcinoma(542;0.104)|Kidney(114;0.125)|Colorectal(74;0.145)|BRCA - Breast invasive adenocarcinoma(99;0.245)		CGGCTGCTCTCTACCAGCCGA	0.652																																						uc010lva.2		NaN																	0				central_nervous_system(1)	1						c.(250-252)CTC>CTA		prepronociceptin precursor							27.0	31.0	29.0					8																	28196682		2202	4300	6502	SO:0001819	synonymous_variant	5368				neuropeptide signaling pathway|sensory perception|synaptic transmission	extracellular region	neuropeptide hormone activity|opioid peptide activity	g.chr8:28196682C>A		CCDS6066.1, CCDS64862.1	8p21	2013-02-26			ENSG00000168081	ENSG00000168081		"""Endogenous ligands"""	9163	protein-coding gene	gene with protein product	"""nocistatin"""	601459				8710928, 10101606	Standard	XM_005273532		Approved	PPNOC	uc003xgp.3	Q13519	OTTHUMG00000102125	ENST00000301908.3:c.252C>A	8.37:g.28196682C>A						PNOC_uc003xgp.2_Silent_p.L84L|PNOC_uc011lau.1_Silent_p.L20L	p.L84L	NM_006228	NP_006219	Q13519	PNOC_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.104)|Kidney(114;0.125)|Colorectal(74;0.145)|BRCA - Breast invasive adenocarcinoma(99;0.245)	3	460	+		Ovarian(32;0.000953)	84					B7Z749|Q6FH16	Silent	SNP	ENST00000301908.3	37	c.252C>A	CCDS6066.1																																																																																				0.652	PNOC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219964.2		NM_006228		20	4	1	0	7.45023e-12	1	8.06909e-12	20	4		
KCNU1	157855	broad.mit.edu	37	8	36697995	36697995	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:36697995G>C	ENST00000399881.3	+	15	1570	c.1533G>C	c.(1531-1533)caG>caC	p.Q511H		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	511					multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		TGCCTAAACAGACCTGGAAGA	0.403																																						uc010lvw.2		NaN																	0				ovary(1)	1						c.(1531-1533)CAG>CAC		potassium channel, subfamily U, member 1							84.0	79.0	80.0					8																	36697995		1901	4128	6029	SO:0001583	missense	157855					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr8:36697995G>C	BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.1533G>C	8.37:g.36697995G>C	ENSP00000382770:p.Gln511His					KCNU1_uc003xjw.2_RNA	p.Q511H	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)	15	1620	+			511			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000399881.3	37	c.1533G>C	CCDS55220.1	.	.	.	.	.	.	.	.	.	.	G	2.543	-0.305919	0.05458	.	.	ENSG00000215262	ENST00000399881	T	0.43294	0.95	5.84	-0.241	0.13043	Potassium channel, calcium-activated, BK, alpha subunit (1);	0.994161	0.08130	N	0.993353	T	0.22704	0.0548	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.15052	0.012	T	0.25152	-1.0140	10	0.40728	T	0.16	-4.3547	8.461	0.32927	0.0784:0.0:0.3361:0.5855	.	511	A8MYU2	KCNU1_HUMAN	H	511	ENSP00000382770:Q511H	ENSP00000382770:Q511H	Q	+	3	2	KCNU1	36817153	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-1.646000	0.01998	0.184000	0.20083	0.655000	0.94253	CAG		0.403	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1		NM_001031836		5	34	0	0	0	1	0	5	34		
UBE2V2	7336	broad.mit.edu	37	8	48973350	48973350	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:48973350C>G	ENST00000523111.2	+	4	455	c.400C>G	c.(400-402)Ctt>Gtt	p.L134V	UBE2V2_ENST00000520809.1_Missense_Mutation_p.L94V|UBE2V2_ENST00000521346.1_Missense_Mutation_p.L94V|UBE2V2_ENST00000517630.1_Missense_Mutation_p.L94V	NM_003350.2	NP_003341.1	Q15819	UB2V2_HUMAN	ubiquitin-conjugating enzyme E2 variant 2	134					cell proliferation (GO:0008283)|DNA double-strand break processing (GO:0000729)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of DNA repair (GO:0045739)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of synapse assembly (GO:0051965)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of DNA repair (GO:0006282)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|UBC13-MMS2 complex (GO:0031372)	acid-amino acid ligase activity (GO:0016881)			large_intestine(1)|lung(2)	3		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00171)|all_lung(136;0.00196)				AAATATGAAGCTTCCACAGCC	0.353								Rad6 pathway																														uc003xqm.2		NaN																	0					0						c.(400-402)CTT>GTT	Direct_reversal_of_damage|Rad6_pathway	ubiquitin-conjugating enzyme E2v2							76.0	72.0	73.0					8																	48973350		1890	4112	6002	SO:0001583	missense	7336				cell proliferation|DNA double-strand break processing|protein polyubiquitination|regulation of DNA repair	cytoplasm|nucleus|UBC13-MMS2 complex	acid-amino acid ligase activity|protein binding	g.chr8:48973350C>G	X98091	CCDS43738.1	8q11.21	2008-02-05			ENSG00000169139	ENSG00000169139		"""Ubiquitin-conjugating enzymes E2"""	12495	protein-coding gene	gene with protein product		603001				9418904, 9199207	Standard	NM_003350		Approved	UEV-2, DDVit-1, EDPF-1, MMS2	uc003xqm.3	Q15819	OTTHUMG00000164206	ENST00000523111.2:c.400C>G	8.37:g.48973350C>G	ENSP00000428209:p.Leu134Val						p.L134V	NM_003350	NP_003341	Q15819	UB2V2_HUMAN			4	421	+		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00171)|all_lung(136;0.00196)	134						Missense_Mutation	SNP	ENST00000523111.2	37	c.400C>G	CCDS43738.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	16.34|16.34|16.34	3.095919|3.095919|3.095919	0.56075|0.56075|0.56075	.|.|.	.|.|.	ENSG00000169139|ENSG00000169139|ENSG00000169139	ENST00000324746|ENST00000523111;ENST00000521346;ENST00000517630;ENST00000520809;ENST00000520595;ENST00000521628|ENST00000523432	.|T;T;T;T|.	.|0.17213|.	.|2.29;2.29;2.29;2.29|.	5.4|5.4|5.4	5.4|5.4|5.4	0.78164|0.78164|0.78164	.|Ubiquitin-conjugating enzyme, E2 (1);Ubiquitin-conjugating enzyme/RWD-like (2);|.	.|0.000000|.	.|0.85682|.	.|D|.	.|0.000000|.	D|D|D	0.83986|0.83986|0.83986	0.5373|0.5373|0.5373	M|M|M	0.87269|0.87269|0.87269	2.87|2.87|2.87	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|B|.	.|0.24317|.	.|0.101|.	.|B|.	.|0.29077|.	.|0.098|.	D|D|D	0.85514|0.85514|0.85514	0.1199|0.1199|0.1199	5|10|5	.|0.87932|.	.|D|.	.|0|.	-4.9863|-4.9863|-4.9863	19.5281|19.5281|19.5281	0.95214|0.95214|0.95214	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	.|134|.	.|Q15819|.	.|UB2V2_HUMAN|.	G|V|R	87|134;94;94;94;47;47|97	.|ENSP00000428209:L134V;ENSP00000428818:L94V;ENSP00000429886:L94V;ENSP00000429419:L94V|.	.|ENSP00000429886:L94V|.	A|L|S	+|+|+	2|1|3	0|0|2	UBE2V2|UBE2V2|UBE2V2	49135903|49135903|49135903	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.999000|0.999000|0.999000	0.98932|0.98932|0.98932	7.293000|7.293000|7.293000	0.78740|0.78740|0.78740	2.696000|2.696000|2.696000	0.92011|0.92011|0.92011	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GCT|CTT|AGC		0.353	UBE2V2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377808.3		NM_003350		13	79	0	0	0	1	0	13	79		
CHD7	55636	broad.mit.edu	37	8	61654316	61654316	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:61654316C>A	ENST00000423902.2	+	2	804	c.325C>A	c.(325-327)Ccc>Acc	p.P109T	CHD7_ENST00000525508.1_Missense_Mutation_p.P109T|CHD7_ENST00000524602.1_Missense_Mutation_p.P109T	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	109					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			TCACACCCCTCCCGTTCCTCA	0.567																																						uc003xue.2		NaN																	0				ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9						c.(325-327)CCC>ACC		chromodomain helicase DNA binding protein 7							47.0	53.0	51.0					8																	61654316		2153	4244	6397	SO:0001583	missense	55636				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	g.chr8:61654316C>A	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.325C>A	8.37:g.61654316C>A	ENSP00000392028:p.Pro109Thr						p.P109T	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		2	802	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	109					D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	ENST00000423902.2	37	c.325C>A	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	C	16.83	3.230677	0.58777	.	.	ENSG00000171316	ENST00000307121;ENST00000423902;ENST00000524602;ENST00000525508	T;T;T	0.46451	0.87;0.87;0.87	5.36	4.48	0.54585	.	0.193345	0.25660	N	0.029152	T	0.27205	0.0667	L	0.27053	0.805	0.45097	D	0.998115	P	0.39480	0.675	B	0.21917	0.037	T	0.12682	-1.0538	10	0.72032	D	0.01	-5.4541	15.6128	0.76740	0.0:0.8502:0.1498:0.0	.	109	Q9P2D1	CHD7_HUMAN	T	109	ENSP00000392028:P109T;ENSP00000437061:P109T;ENSP00000436027:P109T	ENSP00000307304:P109T	P	+	1	0	CHD7	61816870	0.982000	0.34865	0.997000	0.53966	0.989000	0.77384	3.028000	0.49705	1.244000	0.43870	0.585000	0.79938	CCC		0.567	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2		XM_098762		16	20	1	0	2.32078e-09	1	2.46887e-09	16	20		
DNAJC5B	85479	broad.mit.edu	37	8	66963882	66963882	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:66963882G>C	ENST00000276570.5	+	3	387	c.100G>C	c.(100-102)Gaa>Caa	p.E34Q	DNAJC5B_ENST00000519330.1_3'UTR	NM_033105.4	NP_149096.2	Q9UF47	DNJ5B_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5 beta	34	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.					membrane (GO:0016020)				endometrium(3)|large_intestine(6)|liver(1)|lung(6)|prostate(1)|skin(3)	20		Lung NSC(129;0.114)|all_lung(136;0.188)	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)			ATCAAATGAAGAAATTAAGAA	0.393																																						uc003xvs.1		NaN																	0					0						c.(100-102)GAA>CAA		DnaJ (Hsp40) homolog, subfamily C, member 5							115.0	111.0	112.0					8																	66963882		2203	4300	6503	SO:0001583	missense	85479				protein folding	membrane	heat shock protein binding|unfolded protein binding	g.chr8:66963882G>C	AF368276	CCDS6183.1	8q13.1	2012-10-02			ENSG00000147570	ENSG00000147570		"""Heat shock proteins / DNAJ (HSP40)"""	24138	protein-coding gene	gene with protein product		613945				12477932	Standard	NM_033105		Approved	MGC26226, CSP-beta	uc003xvs.1	Q9UF47	OTTHUMG00000164470	ENST00000276570.5:c.100G>C	8.37:g.66963882G>C	ENSP00000276570:p.Glu34Gln					DNAJC5B_uc003xvt.1_RNA	p.E34Q	NM_033105	NP_149096	Q9UF47	DNJ5B_HUMAN	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)		3	391	+		Lung NSC(129;0.114)|all_lung(136;0.188)	34			J.		Q969Y8	Missense_Mutation	SNP	ENST00000276570.5	37	c.100G>C	CCDS6183.1	.	.	.	.	.	.	.	.	.	.	G	17.40	3.380212	0.61845	.	.	ENSG00000147570	ENST00000276570;ENST00000522619	T;T	0.77229	-1.08;-1.08	5.88	5.88	0.94601	Heat shock protein DnaJ, N-terminal (5);	0.060552	0.64402	D	0.000004	T	0.76097	0.3940	L	0.28504	0.86	0.44771	D	0.997771	B	0.22480	0.07	B	0.39339	0.297	T	0.70357	-0.4894	10	0.36615	T	0.2	.	18.0067	0.89211	0.0:0.0:1.0:0.0	.	34	Q9UF47	DNJ5B_HUMAN	Q	34	ENSP00000276570:E34Q;ENSP00000430196:E34Q	ENSP00000276570:E34Q	E	+	1	0	DNAJC5B	67126436	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.310000	0.72830	2.791000	0.96007	0.563000	0.77884	GAA		0.393	DNAJC5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378915.1		NM_033105		13	99	0	0	0	1	0	13	99		
CPA6	57094	broad.mit.edu	37	8	68536432	68536432	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:68536432C>T	ENST00000297770.4	-	2	386	c.171G>A	c.(169-171)aaG>aaA	p.K57K	CPA6_ENST00000518549.1_Silent_p.K57K|CPA6_ENST00000297769.4_5'UTR	NM_020361.4	NP_065094.3	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6	57						proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			AGGATATTTTCTTCAGTGCAT	0.318																																						uc003xxq.3		NaN																	0				ovary(2)	2						c.(169-171)AAG>AAA		carboxypeptidase A6 isoform 1 precursor							191.0	165.0	174.0					8																	68536432		2202	4297	6499	SO:0001819	synonymous_variant	57094				proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding	g.chr8:68536432C>T	AF221594	CCDS6200.1	8q12.3	2012-02-10			ENSG00000165078	ENSG00000165078			17245	protein-coding gene	gene with protein product		609562				11836249	Standard	NM_020361		Approved	CPAH	uc003xxq.4	Q8N4T0	OTTHUMG00000164575	ENST00000297770.4:c.171G>A	8.37:g.68536432C>T						CPA6_uc003xxr.3_5'UTR|CPA6_uc003xxs.2_Silent_p.K57K	p.K57K	NM_020361	NP_065094	Q8N4T0	CBPA6_HUMAN	Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)		2	427	-			57					Q8NEX8|Q8TDE8|Q9NRI9	Silent	SNP	ENST00000297770.4	37	c.171G>A	CCDS6200.1																																																																																				0.318	CPA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379296.2		NM_020361		37	15	0	0	0	1	0	37	15		
SLCO5A1	81796	broad.mit.edu	37	8	70650368	70650368	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:70650368C>A	ENST00000260126.4	-	5	2036	c.1330G>T	c.(1330-1332)Gag>Tag	p.E444*	SLCO5A1_ENST00000524945.1_Nonsense_Mutation_p.E444*|SLCO5A1_ENST00000530307.1_Intron	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	444						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.E444Q(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			ATGGCACTCTCAGCTGTGTAT	0.423																																						uc003xyl.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|upper_aerodigestive_tract(1)	4						c.(1330-1332)GAG>TAG		solute carrier organic anion transporter family,							175.0	154.0	161.0					8																	70650368		2203	4300	6503	SO:0001587	stop_gained	81796					integral to membrane|plasma membrane	transporter activity	g.chr8:70650368C>A	AF205075	CCDS6205.1, CCDS55242.1, CCDS55243.1	8q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000137571	ENSG00000137571		"""Solute carriers"""	19046	protein-coding gene	gene with protein product		613543	"""solute carrier family 21 (organic anion transporter), member 15"""	SLC21A15		12507753	Standard	NM_030958		Approved	OATPRP4, OATP-J, OATP5A1	uc003xyl.3	Q9H2Y9	OTTHUMG00000165121	ENST00000260126.4:c.1330G>T	8.37:g.70650368C>A	ENSP00000260126:p.Glu444*					SLCO5A1_uc010lzb.2_Intron|SLCO5A1_uc011lfa.1_Intron|SLCO5A1_uc003xyk.2_Nonsense_Mutation_p.E444*|SLCO5A1_uc010lzc.2_Intron	p.E444*	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)		5	2037	-	Breast(64;0.0654)		444			Helical; Name=7; (Potential).		A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0	Nonsense_Mutation	SNP	ENST00000260126.4	37	c.1330G>T	CCDS6205.1	.	.	.	.	.	.	.	.	.	.	C	46	12.191829	0.99645	.	.	ENSG00000137571	ENST00000260126;ENST00000524945	.	.	.	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	20.0784	0.97758	0.0:1.0:0.0:0.0	.	.	.	.	X	444	.	ENSP00000260126:E444X	E	-	1	0	SLCO5A1	70812922	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.813000	0.86123	2.736000	0.93811	0.655000	0.94253	GAG		0.423	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381990.3		NM_030958		51	35	1	0	2.48254e-18	1	2.75928e-18	51	35		
TRAM1	23471	broad.mit.edu	37	8	71520314	71520314	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:71520314C>G	ENST00000262213.2	-	1	290	c.121G>C	c.(121-123)Gag>Cag	p.E41Q	TRAM1_ENST00000521049.1_5'UTR|TRAM1_ENST00000521425.1_5'Flank|RP11-382J12.1_ENST00000499227.2_5'Flank|TRAM1_ENST00000536748.1_Missense_Mutation_p.E10Q	NM_014294.5	NP_055109.1	Q15629	TRAM1_HUMAN	translocation associated membrane protein 1	41					cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	17			Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)			GGGCTCACCTCAAACATGAGC	0.692																																					Ovarian(85;984 1334 5116 12432 40638)	uc003xyo.1		NaN																	0				ovary(1)	1						c.(121-123)GAG>CAG		translocation associated membrane protein 1							34.0	33.0	33.0					8																	71520314		2203	4299	6502	SO:0001583	missense	23471				cotranslational protein targeting to membrane|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity	g.chr8:71520314C>G	X63679	CCDS6207.1	8q13.1	2004-01-22			ENSG00000067167	ENSG00000067167			20568	protein-coding gene	gene with protein product		605190				1315422	Standard	NM_014294		Approved	TRAM, TRAMP	uc003xyo.2	Q15629	OTTHUMG00000164428	ENST00000262213.2:c.121G>C	8.37:g.71520314C>G	ENSP00000262213:p.Glu41Gln					TRAM1_uc011lfc.1_Missense_Mutation_p.E10Q	p.E41Q	NM_014294	NP_055109	Q15629	TRAM1_HUMAN	Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)		1	291	-			41			Helical; (Potential).		B4E0K2	Missense_Mutation	SNP	ENST00000262213.2	37	c.121G>C	CCDS6207.1	.	.	.	.	.	.	.	.	.	.	C	14.43	2.532371	0.45073	.	.	ENSG00000067167	ENST00000262213;ENST00000536748;ENST00000518678	T;T	0.29917	1.55;1.56	5.09	3.16	0.36331	.	0.155079	0.56097	D	0.000026	T	0.18299	0.0439	N	0.24115	0.695	0.58432	D	0.999999	B	0.24368	0.102	B	0.25614	0.062	T	0.05257	-1.0896	10	0.15066	T	0.55	-6.065	9.9138	0.41421	0.0:0.7831:0.139:0.0779	.	41	Q15629	TRAM1_HUMAN	Q	41;10;10	ENSP00000262213:E41Q;ENSP00000439359:E10Q	ENSP00000262213:E41Q	E	-	1	0	TRAM1	71682868	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	5.214000	0.65236	1.128000	0.42052	0.563000	0.77884	GAG		0.692	TRAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378738.1		NM_014294		19	4	0	0	0	1	0	19	4		
LACTB2	51110	broad.mit.edu	37	8	71550853	71550853	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:71550853C>G	ENST00000276590.4	-	6	789	c.753G>C	c.(751-753)gaG>gaC	p.E251D	RP11-382J12.1_ENST00000518553.1_Intron|LACTB2_ENST00000522447.1_Missense_Mutation_p.E251D|RP11-382J12.1_ENST00000499227.2_Intron|LACTB2_ENST00000517601.1_5'UTR	NM_016027.2	NP_057111.1	Q53H82	LACB2_HUMAN	lactamase, beta 2	251						mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			endometrium(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|prostate(1)	10	Breast(64;0.0716)		Epithelial(68;0.00319)|all cancers(69;0.0175)|OV - Ovarian serous cystadenocarcinoma(28;0.0628)|BRCA - Breast invasive adenocarcinoma(89;0.166)			CATGTAAATTCTCAGGAGTAT	0.244																																						uc011lfd.1		NaN																	0				ovary(1)	1						c.(751-753)GAG>GAC		lactamase, beta 2							25.0	31.0	29.0					8																	71550853		2142	4243	6385	SO:0001583	missense	51110						hydrolase activity|metal ion binding	g.chr8:71550853C>G	AF151841	CCDS6208.1	8q13.3	2005-10-14			ENSG00000147592	ENSG00000147592			18512	protein-coding gene	gene with protein product							Standard	NM_016027		Approved	CGI-83	uc003xyp.3	Q53H82	OTTHUMG00000164430	ENST00000276590.4:c.753G>C	8.37:g.71550853C>G	ENSP00000276590:p.Glu251Asp					LACTB2_uc003xyp.2_Missense_Mutation_p.E251D	p.E251D	NM_016027	NP_057111	Q53H82	LACB2_HUMAN	Epithelial(68;0.00319)|all cancers(69;0.0175)|OV - Ovarian serous cystadenocarcinoma(28;0.0628)|BRCA - Breast invasive adenocarcinoma(89;0.166)		6	845	-	Breast(64;0.0716)		251					A8K2D6|Q9Y392	Missense_Mutation	SNP	ENST00000276590.4	37	c.753G>C	CCDS6208.1	.	.	.	.	.	.	.	.	.	.	C	7.374	0.627513	0.14257	.	.	ENSG00000147592	ENST00000522447;ENST00000276590	T;T	0.17691	2.26;2.26	4.9	2.98	0.34508	.	0.104953	0.64402	N	0.000005	T	0.14614	0.0353	M	0.63169	1.94	0.50467	D	0.999874	B	0.24768	0.111	B	0.24269	0.052	T	0.07009	-1.0795	10	0.17369	T	0.5	-11.9649	5.2423	0.15479	0.0:0.5522:0.1491:0.2987	.	251	Q53H82	LACB2_HUMAN	D	251	ENSP00000428801:E251D;ENSP00000276590:E251D	ENSP00000276590:E251D	E	-	3	2	LACTB2	71713407	0.546000	0.26457	0.785000	0.31869	0.321000	0.28281	0.662000	0.25038	0.690000	0.31570	-0.366000	0.07423	GAG		0.244	LACTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378748.1		NM_016027		34	18	0	0	0	1	0	34	18		
PI15	51050	broad.mit.edu	37	8	75737667	75737667	+	Silent	SNP	C	C	T	rs147092656	byFrequency	TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:75737667C>T	ENST00000260113.2	+	2	362	c.183C>T	c.(181-183)taC>taT	p.Y61Y	PI15_ENST00000523773.1_Silent_p.Y61Y|RP11-758M4.4_ENST00000523860.1_RNA|RP11-758M4.4_ENST00000518128.1_RNA	NM_015886.3	NP_056970.1	O43692	PI15_HUMAN	peptidase inhibitor 15	61						extracellular vesicular exosome (GO:0070062)	peptidase inhibitor activity (GO:0030414)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1)	30	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			GGAAGCGCTACATTTCGCAGA	0.443													C|||	3	0.000599042	0.0	0.0	5008	,	,		18853	0.003		0.0	False		,,,				2504	0.0					uc003yal.2		NaN																	0				central_nervous_system(2)|ovary(1)	3						c.(181-183)TAC>TAT		protease inhibitor 15 preproprotein							80.0	71.0	74.0					8																	75737667		2203	4300	6503	SO:0001819	synonymous_variant	51050					extracellular region	peptidase inhibitor activity	g.chr8:75737667C>T	D45027	CCDS6218.1	8q13.3	2005-08-17	2005-08-17		ENSG00000137558	ENSG00000137558			8946	protein-coding gene	gene with protein product		607076	"""protease inhibitor 15"""			8882727, 9473672	Standard	XM_005251255		Approved	P25TI	uc003yal.3	O43692	OTTHUMG00000164528	ENST00000260113.2:c.183C>T	8.37:g.75737667C>T						uc003yak.1_Intron|PI15_uc003yam.2_Silent_p.Y61Y	p.Y61Y	NM_015886	NP_056970	O43692	PI15_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)		2	362	+	Breast(64;0.137)		61					Q68CY1	Silent	SNP	ENST00000260113.2	37	c.183C>T	CCDS6218.1																																																																																				0.443	PI15-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379115.1		NM_015886		49	42	0	0	0	1	0	49	42		
RALYL	138046	broad.mit.edu	37	8	85441685	85441685	+	Silent	SNP	A	A	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:85441685A>G	ENST00000521268.1	+	2	1234	c.129A>G	c.(127-129)tcA>tcG	p.S43S	RALYL_ENST00000517638.1_Silent_p.S56S|RALYL_ENST00000522455.1_Silent_p.S43S|RALYL_ENST00000518566.1_Silent_p.S43S|RALYL_ENST00000521695.1_Silent_p.S43S	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	43	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.						nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						CCATTTTTTCAAAGTATGGAA	0.408																																						uc003ycq.3		NaN																	0				ovary(1)	1						c.(127-129)TCA>TCG		RALY RNA binding protein-like isoform 2							58.0	59.0	59.0					8																	85441685		1956	4177	6133	SO:0001819	synonymous_variant	138046						identical protein binding|nucleotide binding|RNA binding	g.chr8:85441685A>G		CCDS55252.1, CCDS55253.1, CCDS75760.1, CCDS75761.1	8q21.2	2013-07-16			ENSG00000184672	ENSG00000184672		"""RNA binding motif (RRM) containing"""	27036	protein-coding gene	gene with protein product		614648				12688537	Standard	NM_001100391		Approved	HNRPCL3	uc003yct.4	Q86SE5	OTTHUMG00000164628	ENST00000521268.1:c.129A>G	8.37:g.85441685A>G						RALYL_uc003ycr.3_Silent_p.S43S|RALYL_uc003ycs.3_Silent_p.S43S|RALYL_uc010lzy.2_Silent_p.S43S|RALYL_uc003yct.3_Silent_p.S56S	p.S43S	NM_001100392	NP_001093862	Q86SE5	RALYL_HUMAN			3	545	+			43			RRM.		B3KTH2|G3V129|Q6ZW87|Q8N1C2	Silent	SNP	ENST00000521268.1	37	c.129A>G	CCDS55253.1																																																																																				0.408	RALYL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379448.1				16	17	0	0	0	1	0	16	17		
PSKH2	85481	broad.mit.edu	37	8	87076268	87076268	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:87076268G>A	ENST00000276616.2	-	2	852	c.778C>T	c.(778-780)Ctg>Ttg	p.L260L	PSKH2_ENST00000517981.1_5'Flank	NM_033126.1	NP_149117.1	Q96QS6	KPSH2_HUMAN	protein serine kinase H2	260	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47			STAD - Stomach adenocarcinoma(118;0.129)			TCAAAAGGCAGGAATCCGCTA	0.403																																						uc011lfy.1		NaN																	0				stomach(2)|lung(2)|ovary(1)	5						c.(778-780)CTG>TTG		protein serine kinase H2							80.0	79.0	79.0					8																	87076268		2203	4300	6503	SO:0001819	synonymous_variant	85481						ATP binding|protein serine/threonine kinase activity	g.chr8:87076268G>A	AY037806	CCDS6240.1	8q21.13	2004-06-03				ENSG00000147613			18997	protein-coding gene	gene with protein product							Standard	NM_033126		Approved		uc011lfy.2	Q96QS6		ENST00000276616.2:c.778C>T	8.37:g.87076268G>A							p.L260L	NM_033126	NP_149117	Q96QS6	KPSH2_HUMAN	STAD - Stomach adenocarcinoma(118;0.129)		2	778	-			260			Protein kinase.		A0AV22	Silent	SNP	ENST00000276616.2	37	c.778C>T	CCDS6240.1																																																																																				0.403	PSKH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374628.1		NM_033126		37	41	0	0	0	1	0	37	41		
POP1	10940	broad.mit.edu	37	8	99142401	99142401	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:99142401G>C	ENST00000401707.2	+	5	763	c.682G>C	c.(682-684)Gtc>Ctc	p.V228L	POP1_ENST00000349693.3_Missense_Mutation_p.V228L	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	228					RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA 5'-leader removal (GO:0001682)|tRNA catabolic process (GO:0016078)	extracellular space (GO:0005615)|nucleolar ribonuclease P complex (GO:0005655)|ribonuclease MRP complex (GO:0000172)	poly(A) RNA binding (GO:0044822)|ribonuclease MRP activity (GO:0000171)|ribonuclease P activity (GO:0004526)			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			GAGGCCAACAGTCAAGAGCCA	0.483																																						uc003yij.3		NaN																	0				ovary(1)|breast(1)	2						c.(682-684)GTC>CTC		processing of precursor 1							79.0	76.0	77.0					8																	99142401		2203	4300	6503	SO:0001583	missense	10940				tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity	g.chr8:99142401G>C	D31765	CCDS6277.1	8q22.2	2012-05-21			ENSG00000104356	ENSG00000104356			30129	protein-coding gene	gene with protein product	"""processing of precursors 1"""	602486				10199568, 8918471	Standard	NM_015029		Approved		uc011lgv.2	Q99575	OTTHUMG00000164635	ENST00000401707.2:c.682G>C	8.37:g.99142401G>C	ENSP00000385787:p.Val228Leu					POP1_uc011lgv.1_Missense_Mutation_p.V228L|POP1_uc003yik.2_Missense_Mutation_p.V228L	p.V228L	NM_001145860	NP_001139332	Q99575	POP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.145)		5	782	+	Breast(36;1.78e-06)		228					A8K5W9|Q15037	Missense_Mutation	SNP	ENST00000401707.2	37	c.682G>C	CCDS6277.1	.	.	.	.	.	.	.	.	.	.	G	3.776	-0.046667	0.07407	.	.	ENSG00000104356	ENST00000401707;ENST00000349693	T;T	0.41065	1.01;1.01	5.91	4.04	0.47022	Ribonuclease P/MRP, subunit POP1 (1);	0.753115	0.12767	N	0.440873	T	0.22282	0.0537	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.12837	0.008	T	0.23726	-1.0180	9	.	.	.	-3.6224	9.0883	0.36594	0.0743:0.2825:0.6433:0.0	.	228	Q99575	POP1_HUMAN	L	228	ENSP00000385787:V228L;ENSP00000339529:V228L	.	V	+	1	0	POP1	99211577	0.002000	0.14202	0.101000	0.21167	0.782000	0.44232	0.675000	0.25232	0.773000	0.33404	0.655000	0.94253	GTC		0.483	POP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379470.1		NM_015029		31	95	0	0	0	1	0	31	95		
VPS13B	157680	broad.mit.edu	37	8	100844696	100844696	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:100844696G>C	ENST00000358544.2	+	52	9616	c.9505G>C	c.(9505-9507)Gac>Cac	p.D3169H	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.D3144H	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3169					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CTTGATGCCTGACATCAGTCA	0.522																																					Colon(161;2205 2542 7338 31318)	uc003yiv.2		NaN																	0				ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20						c.(9505-9507)GAC>CAC		vacuolar protein sorting 13B isoform 5							79.0	54.0	62.0					8																	100844696		2203	4300	6503	SO:0001583	missense	157680				protein transport			g.chr8:100844696G>C	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.9505G>C	8.37:g.100844696G>C	ENSP00000351346:p.Asp3169His					VPS13B_uc003yiw.2_Missense_Mutation_p.D3144H	p.D3169H	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		52	9616	+	Breast(36;3.73e-07)		3169					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.9505G>C	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	G	17.33	3.362307	0.61403	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.69806	-0.43;-0.43	5.55	5.55	0.83447	.	0.298816	0.36066	N	0.002801	T	0.75162	0.3812	L	0.44542	1.39	0.80722	D	1	D;D	0.69078	0.997;0.99	P;P	0.59761	0.863;0.594	T	0.76708	-0.2860	10	0.66056	D	0.02	.	19.5157	0.95162	0.0:0.0:1.0:0.0	.	3144;3169	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	H	3144;3169	ENSP00000349685:D3144H;ENSP00000351346:D3169H	ENSP00000349685:D3144H	D	+	1	0	VPS13B	100913872	0.997000	0.39634	0.847000	0.33407	0.812000	0.45895	4.242000	0.58714	2.602000	0.87976	0.650000	0.86243	GAC		0.522	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1		NM_184042		16	30	0	0	0	1	0	16	30		
VPS13B	157680	broad.mit.edu	37	8	100866115	100866115	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:100866115G>A	ENST00000358544.2	+	56	10684	c.10573G>A	c.(10573-10575)Gaa>Aaa	p.E3525K	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.E3500K	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3525					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GTTCAGCTTTGAATTAAAACC	0.383																																					Colon(161;2205 2542 7338 31318)	uc003yiv.2		NaN																	0				ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20						c.(10573-10575)GAA>AAA		vacuolar protein sorting 13B isoform 5							121.0	124.0	123.0					8																	100866115		2203	4300	6503	SO:0001583	missense	157680				protein transport			g.chr8:100866115G>A	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.10573G>A	8.37:g.100866115G>A	ENSP00000351346:p.Glu3525Lys					VPS13B_uc003yiw.2_Missense_Mutation_p.E3500K	p.E3525K	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		56	10684	+	Breast(36;3.73e-07)		3525					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.10573G>A	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	G	12.28	1.889128	0.33348	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.66995	-0.24;-0.24	5.67	5.67	0.87782	.	0.207939	0.42053	D	0.000776	T	0.54367	0.1854	L	0.40543	1.245	0.80722	D	1	P;B	0.36733	0.567;0.278	B;B	0.31016	0.123;0.084	T	0.56275	-0.8006	10	0.06236	T	0.91	.	19.7731	0.96379	0.0:0.0:1.0:0.0	.	3500;3525	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	K	3500;3525	ENSP00000349685:E3500K;ENSP00000351346:E3525K	ENSP00000349685:E3500K	E	+	1	0	VPS13B	100935291	1.000000	0.71417	0.791000	0.31998	0.984000	0.73092	6.445000	0.73456	2.665000	0.90641	0.650000	0.86243	GAA		0.383	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1		NM_184042		41	178	0	0	0	1	0	41	178		
SPAG1	6674	broad.mit.edu	37	8	101253173	101253173	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:101253173G>C	ENST00000388798.2	+	19	2895	c.2704G>C	c.(2704-2706)Gag>Cag	p.E902Q	SPAG1_ENST00000251809.3_Missense_Mutation_p.E902Q	NM_003114.4	NP_003105.2	Q07617	SPAG1_HUMAN	sperm associated antigen 1	902					axonemal dynein complex assembly (GO:0070286)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	GTP binding (GO:0005525)|hydrolase activity (GO:0016787)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		ACAGCTGTTTGAGGACCTTTC	0.333																																						uc003yjh.1		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(2704-2706)GAG>CAG		sperm associated antigen 1							81.0	81.0	81.0					8																	101253173		2203	4300	6503	SO:0001583	missense	6674				single fertilization	cytoplasm	GTP binding|hydrolase activity	g.chr8:101253173G>C	AF311312	CCDS34930.1	8q22	2014-01-21			ENSG00000104450	ENSG00000104450		"""Tetratricopeptide (TTC) repeat domain containing"""	11212	protein-coding gene	gene with protein product		603395				16368546	Standard	NM_172218		Approved	SP75, FLJ32920, HSD-3.8, TPIS, CT140	uc003yjh.2	Q07617	OTTHUMG00000164706	ENST00000388798.2:c.2704G>C	8.37:g.101253173G>C	ENSP00000373450:p.Glu902Gln					SPAG1_uc003yji.1_Missense_Mutation_p.E902Q	p.E902Q	NM_172218	NP_757367	Q07617	SPAG1_HUMAN	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)	19	2790	+	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	902					A6NP70|B3KQ58|G3XAM3|Q7Z5G1	Missense_Mutation	SNP	ENST00000388798.2	37	c.2704G>C	CCDS34930.1	.	.	.	.	.	.	.	.	.	.	G	10.22	1.290419	0.23478	.	.	ENSG00000104450	ENST00000251809;ENST00000388798	T;T	0.62364	0.03;0.03	6.17	5.3	0.74995	.	0.259137	0.44097	D	0.000499	T	0.47746	0.1462	N	0.14661	0.345	0.23416	N	0.99772	P	0.39391	0.671	B	0.35470	0.203	T	0.38824	-0.9643	10	0.51188	T	0.08	-14.3067	18.4051	0.90533	0.0628:0.0:0.9372:0.0	.	902	Q07617	SPAG1_HUMAN	Q	902	ENSP00000251809:E902Q;ENSP00000373450:E902Q	ENSP00000251809:E902Q	E	+	1	0	SPAG1	101322349	1.000000	0.71417	0.652000	0.29579	0.110000	0.19582	3.500000	0.53318	0.953000	0.37825	-0.797000	0.03246	GAG		0.333	SPAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379853.2		NM_172218		10	112	0	0	0	1	0	10	112		
UBR5	51366	broad.mit.edu	37	8	103298599	103298599	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:103298599G>C	ENST00000520539.1	-	38	5810	c.5204C>G	c.(5203-5205)tCt>tGt	p.S1735C	UBR5_ENST00000521922.1_Missense_Mutation_p.S1729C|UBR5_ENST00000220959.4_Missense_Mutation_p.S1735C|UBR5_ENST00000519528.1_5'Flank	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	1735					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TGCTGGTGTAGATGTACTGGA	0.453																																					Ovarian(131;96 1741 5634 7352 27489)	uc003ykr.1		NaN																	0				lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28						c.(5203-5205)TCT>TGT		ubiquitin protein ligase E3 component n-recognin							77.0	66.0	69.0					8																	103298599		2203	4300	6503	SO:0001583	missense	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103298599G>C	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.5204C>G	8.37:g.103298599G>C	ENSP00000429084:p.Ser1735Cys					UBR5_uc003yks.1_Missense_Mutation_p.S1735C	p.S1735C	NM_015902	NP_056986	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		38	5237	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		1735					B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	ENST00000520539.1	37	c.5204C>G	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	G	19.58	3.853792	0.71719	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	T;T;T	0.47869	0.83;0.83;0.83	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.53302	0.1788	L	0.29908	0.895	0.80722	D	1	D;D	0.64830	0.994;0.994	P;P	0.54460	0.753;0.753	T	0.52823	-0.8524	10	0.56958	D	0.05	.	20.1754	0.98177	0.0:0.0:1.0:0.0	.	1729;1735	E7EMW7;O95071	.;UBR5_HUMAN	C	1735;1735;1729	ENSP00000429084:S1735C;ENSP00000220959:S1735C;ENSP00000427819:S1729C	ENSP00000220959:S1735C	S	-	2	0	UBR5	103367775	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.869000	0.99810	2.774000	0.95407	0.655000	0.94253	TCT		0.453	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2		NM_015902		5	61	0	0	0	1	0	5	61		
FZD6	8323	broad.mit.edu	37	8	104337017	104337017	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:104337017G>A	ENST00000358755.4	+	4	1000	c.683G>A	c.(682-684)aGa>aAa	p.R228K	FZD6_ENST00000522566.1_Missense_Mutation_p.R228K|FZD6_ENST00000540287.1_Intron|FZD6_ENST00000523739.1_Missense_Mutation_p.R196K	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	O60353	FZD6_HUMAN	frizzled class receptor 6	228					angiogenesis (GO:0001525)|axonogenesis (GO:0007409)|cell proliferation in midbrain (GO:0033278)|embryonic nail plate morphogenesis (GO:0035880)|establishment of planar polarity (GO:0001736)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hair follicle development (GO:0001942)|inner ear morphogenesis (GO:0042472)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|neural tube closure (GO:0001843)|non-canonical Wnt signaling pathway (GO:0035567)|platelet activation (GO:0030168)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	apical part of cell (GO:0045177)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			AGAAGATTCAGATACCCAGAG	0.338																																						uc003ylh.2		NaN																	0				central_nervous_system(1)|skin(1)	2						c.(682-684)AGA>AAA		frizzled 6 isoform a precursor							52.0	52.0	52.0					8																	104337017		2203	4300	6503	SO:0001583	missense	8323				angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway	apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr8:104337017G>A	AB012911	CCDS6298.1, CCDS55268.1	8q22.3-q23.1	2014-01-29	2014-01-29		ENSG00000164930	ENSG00000164930		"""GPCR / Class F : Frizzled receptors"""	4044	protein-coding gene	gene with protein product		603409	"""frizzled (Drosophila) homolog 6"", ""frizzled homolog 6 (Drosophila)"", ""frizzled 6, seven transmembrane spanning receptor"", ""frizzled family receptor 6"""			9480858, 14747478	Standard	NM_003506		Approved	Hfz6	uc003ylh.3	O60353	OTTHUMG00000164840	ENST00000358755.4:c.683G>A	8.37:g.104337017G>A	ENSP00000351605:p.Arg228Lys					FZD6_uc003yli.2_Missense_Mutation_p.R228K|FZD6_uc003ylj.2_Missense_Mutation_p.R228K|FZD6_uc011lhn.1_Missense_Mutation_p.R194K|FZD6_uc011lho.1_Intron|FZD6_uc011lhp.1_Missense_Mutation_p.R173K	p.R228K	NM_003506	NP_003497	O60353	FZD6_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)		4	967	+			228			Cytoplasmic (Potential).		B4DRN0|Q6N0A5|Q6P9C3|Q8WXR9	Missense_Mutation	SNP	ENST00000358755.4	37	c.683G>A	CCDS6298.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.315281	0.81358	.	.	ENSG00000164930	ENST00000522566;ENST00000358755;ENST00000523739;ENST00000539487	D;D;D	0.81499	-1.5;-1.5;-1.5	5.6	5.6	0.85130	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	D	0.86151	0.5864	L	0.43598	1.365	0.80722	D	1	D;D;D	0.76494	0.997;0.999;0.997	D;D;D	0.80764	0.983;0.994;0.988	T	0.82408	-0.0472	10	0.23891	T	0.37	.	19.6086	0.95589	0.0:0.0:1.0:0.0	.	173;228;228	B4E236;B2R9H9;O60353	.;.;FZD6_HUMAN	K	228;228;196;173	ENSP00000429055:R228K;ENSP00000351605:R228K;ENSP00000429528:R196K	ENSP00000351605:R228K	R	+	2	0	FZD6	104406193	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.869000	0.99810	2.640000	0.89533	0.491000	0.48974	AGA		0.338	FZD6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380560.1		NM_003506		26	57	0	0	0	1	0	26	57		
RIMS2	9699	broad.mit.edu	37	8	104955043	104955043	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:104955043C>T	ENST00000436393.2	+	12	2165	c.1924C>T	c.(1924-1926)Cat>Tat	p.H642Y	RIMS2_ENST00000406091.3_Missense_Mutation_p.H864Y|RIMS2_ENST00000262231.10_Missense_Mutation_p.H703Y|RIMS2_ENST00000507740.1_Missense_Mutation_p.H656Y			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	926					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)			TGATGAGCCACATTGGTACAA	0.393										HNSCC(12;0.0054)																												uc003yls.2		NaN																	0				ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15						c.(1924-1926)CAT>TAT		regulating synaptic membrane exocytosis 2							74.0	70.0	71.0					8																	104955043		1885	4113	5998	SO:0001583	missense	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:104955043C>T	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.1924C>T	8.37:g.104955043C>T	ENSP00000390665:p.His642Tyr	HNSCC(12;0.0054)				RIMS2_uc003ylp.2_Missense_Mutation_p.H864Y|RIMS2_uc003ylw.2_Missense_Mutation_p.H656Y|RIMS2_uc003ylq.2_Missense_Mutation_p.H656Y|RIMS2_uc003ylr.2_Missense_Mutation_p.H703Y|RIMS2_uc003ylt.2_Missense_Mutation_p.H249Y	p.H642Y	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		12	2165	+			926					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37	c.1924C>T		.	.	.	.	.	.	.	.	.	.	C	28.7	4.945084	0.92593	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000515551;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393	T;T;T;T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05;-1.05;-1.05;-1.05	5.17	5.17	0.71159	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	.	.	.	.	D	0.88112	0.6349	M	0.73962	2.25	0.80722	D	1	B;P;P;B;D;P	0.54601	0.306;0.58;0.82;0.267;0.967;0.934	B;P;D;B;P;D	0.69824	0.152;0.597;0.946;0.244;0.902;0.966	D	0.89203	0.3559	9	0.87932	D	0	.	19.0411	0.92999	0.0:1.0:0.0:0.0	.	926;926;642;703;656;864	Q9UQ26;Q9UQ26-2;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.;.	Y	864;879;864;926;656;703;656;656;642	ENSP00000427018:H864Y;ENSP00000384892:H864Y;ENSP00000425205:H656Y;ENSP00000262231:H703Y;ENSP00000423559:H656Y;ENSP00000386228:H656Y;ENSP00000390665:H642Y	ENSP00000262231:H703Y	H	+	1	0	RIMS2	105024219	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.729000	0.84864	2.552000	0.86080	0.591000	0.81541	CAT		0.393	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1		NM_001100117		11	62	0	0	0	1	0	11	62		
ZFPM2	23414	broad.mit.edu	37	8	106815184	106815184	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:106815184C>G	ENST00000407775.2	+	8	3124	c.2874C>G	c.(2872-2874)aaC>aaG	p.N958K	ZFPM2_ENST00000378472.4_Missense_Mutation_p.N689K|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.N826K|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.N826K|RP11-152P17.2_ENST00000520594.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	958					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			AAGAAGAAAACAGACATTTGT	0.428																																						uc003ymd.2		NaN																	0				ovary(4)|large_intestine(1)	5						c.(2872-2874)AAC>AAG		zinc finger protein, multitype 2							32.0	30.0	30.0					8																	106815184		1848	4093	5941	SO:0001583	missense	23414				blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	g.chr8:106815184C>G	AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	16700	protein-coding gene	gene with protein product		603693	"""zinc finger protein, multitype 2"""			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.2874C>G	8.37:g.106815184C>G	ENSP00000384179:p.Asn958Lys					ZFPM2_uc011lhs.1_Missense_Mutation_p.N689K	p.N958K	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)		8	2897	+			958					Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	ENST00000407775.2	37	c.2874C>G	CCDS47908.1	.	.	.	.	.	.	.	.	.	.	C	12.17	1.858047	0.32791	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361;ENST00000378472	T;T;T;T	0.19532	2.14;2.62;2.62;3.83	5.76	5.76	0.90799	.	0.128142	0.64402	D	0.000001	T	0.19446	0.0467	L	0.27053	0.805	0.80722	D	1	B	0.24823	0.112	B	0.22386	0.039	T	0.02533	-1.1145	10	0.44086	T	0.13	.	19.9618	0.97254	0.0:1.0:0.0:0.0	.	958	Q8WW38	FOG2_HUMAN	K	958;826;826;689	ENSP00000384179:N958K;ENSP00000430757:N826K;ENSP00000428720:N826K;ENSP00000367733:N689K	ENSP00000367733:N689K	N	+	3	2	ZFPM2	106884360	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	6.070000	0.71220	2.722000	0.93159	0.650000	0.86243	AAC		0.428	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1				7	30	0	0	0	1	0	7	30		
TAF2	6873	broad.mit.edu	37	8	120768248	120768248	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:120768248G>A	ENST00000378164.2	-	22	3174	c.2876C>T	c.(2875-2877)tCt>tTt	p.S959F	TAF2_ENST00000519355.1_5'UTR	NM_003184.3	NP_003175	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	959					G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to organic cyclic compound (GO:0014070)|transcription initiation from RNA polymerase II promoter (GO:0006367)	transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	metallopeptidase activity (GO:0008237)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TCTCTCACCAGAATTCATAAG	0.323																																						uc003you.2		NaN																	0				large_intestine(2)|ovary(2)|kidney(1)|skin(1)	6						c.(2875-2877)TCT>TTT		TBP-associated factor 2							88.0	85.0	86.0					8																	120768248		2203	4300	6503	SO:0001583	missense	6873				G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr8:120768248G>A	AF040701	CCDS34937.1	8q24	2012-07-18	2002-08-29	2001-12-07	ENSG00000064313	ENSG00000064313			11536	protein-coding gene	gene with protein product		604912	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, B, 150kD"""	TAF2B		9774672, 9418870	Standard	NM_003184		Approved	TAFII150, CIF150	uc003you.3	Q6P1X5	OTTHUMG00000165009	ENST00000378164.2:c.2876C>T	8.37:g.120768248G>A	ENSP00000367406:p.Ser959Phe						p.S959F	NM_003184	NP_003175	Q6P1X5	TAF2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		22	3146	-	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		959					B2RE82|O43487|O43604|O60668|Q86WW7|Q8IWK4	Missense_Mutation	SNP	ENST00000378164.2	37	c.2876C>T	CCDS34937.1	.	.	.	.	.	.	.	.	.	.	G	17.53	3.412406	0.62511	.	.	ENSG00000064313	ENST00000378164;ENST00000529653	T;T	0.48522	0.81;0.81	4.6	4.6	0.57074	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.37404	0.1002	N	0.24115	0.695	0.80722	D	1	B	0.16802	0.019	B	0.15484	0.013	T	0.18429	-1.0337	10	0.46703	T	0.11	-16.8564	17.7775	0.88514	0.0:0.0:1.0:0.0	.	959	Q6P1X5	TAF2_HUMAN	F	959;83	ENSP00000367406:S959F;ENSP00000436750:S83F	ENSP00000367406:S959F	S	-	2	0	TAF2	120837429	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.765000	0.98953	2.265000	0.75225	0.650000	0.86243	TCT		0.323	TAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381436.1		NM_003184		29	75	0	0	0	1	0	29	75		
TBC1D31	93594	broad.mit.edu	37	8	124109655	124109655	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:124109655G>C	ENST00000287380.1	+	6	895	c.805G>C	c.(805-807)Gat>Cat	p.D269H	TBC1D31_ENST00000309336.3_Missense_Mutation_p.D269H|TBC1D31_ENST00000378080.2_Missense_Mutation_p.D164H|TBC1D31_ENST00000521676.1_Missense_Mutation_p.D164H|TBC1D31_ENST00000327098.5_Missense_Mutation_p.D269H|TBC1D31_ENST00000522420.1_Missense_Mutation_p.D164H	NM_145647.3	NP_663622.2	Q96DN5	TBC31_HUMAN	TBC1 domain family, member 31	269						centrosome (GO:0005813)	Rab GTPase activator activity (GO:0005097)	p.D269H(1)									ATTTCTTCCTGATAGTTTTGA	0.398																																						uc003ypp.1		NaN																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(805-807)GAT>CAT		WD repeat domain 67 isoform 1							105.0	94.0	98.0					8																	124109655		2203	4300	6503	SO:0001583	missense	93594					centrosome	Rab GTPase activator activity	g.chr8:124109655G>C	AK094612	CCDS6338.1, CCDS47916.1	8q24.13	2013-07-10	2013-07-10	2013-07-10	ENSG00000156787	ENSG00000156787		"""WD repeat domain containing"""	30888	protein-coding gene	gene with protein product			"""WD repeat domain 67"""	WDR67		12477932	Standard	NM_001145088		Approved	MGC21654, Gm85	uc003ypp.2	Q96DN5	OTTHUMG00000165081	ENST00000287380.1:c.805G>C	8.37:g.124109655G>C	ENSP00000287380:p.Asp269His					WDR67_uc011lig.1_Missense_Mutation_p.D269H|WDR67_uc011lih.1_Missense_Mutation_p.D159H|WDR67_uc003ypq.1_RNA|WDR67_uc003ypo.1_Missense_Mutation_p.D269H|WDR67_uc003ypr.2_RNA	p.D269H	NM_145647	NP_663622	Q96DN5	WDR67_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		6	895	+	Lung NSC(37;7e-10)|Ovarian(258;0.0205)		269					B7ZL19|Q2M2J9|Q3MIR6|Q8TBP9	Missense_Mutation	SNP	ENST00000287380.1	37	c.805G>C	CCDS6338.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.314597	0.81358	.	.	ENSG00000156787	ENST00000287380;ENST00000309336;ENST00000543408;ENST00000327098;ENST00000522420;ENST00000521676;ENST00000378080	T;T;T;T;T;T	0.72282	-0.64;-0.58;-0.54;1.1;1.1;1.1	5.62	5.62	0.85841	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.099118	0.64402	D	0.000002	T	0.82171	0.4979	M	0.81802	2.56	0.54753	D	0.999989	P;P;D	0.56521	0.846;0.952;0.976	P;P;P	0.53988	0.451;0.681;0.739	D	0.84609	0.0677	10	0.87932	D	0	-31.2921	19.6559	0.95842	0.0:0.0:1.0:0.0	.	269;269;269	B7ZL19;Q96DN5;Q3KRB0	.;WDR67_HUMAN;.	H	269;269;148;269;164;164;164	ENSP00000287380:D269H;ENSP00000308358:D269H;ENSP00000312701:D269H;ENSP00000429334:D164H;ENSP00000430628:D164H;ENSP00000367320:D164H	ENSP00000287380:D269H	D	+	1	0	WDR67	124178836	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.341000	0.79300	2.657000	0.90304	0.491000	0.48974	GAT		0.398	TBC1D31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381721.1		NM_145647		5	72	0	0	0	1	0	5	72		
C8orf76	84933	broad.mit.edu	37	8	124243745	124243745	+	Missense_Mutation	SNP	A	A	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:124243745A>C	ENST00000276704.4	-	4	661	c.610T>G	c.(610-612)Ttc>Gtc	p.F204V	ZHX1-C8ORF76_ENST00000357082.4_Missense_Mutation_p.F172V|C8orf76_ENST00000521310.1_5'UTR	NM_032847.2	NP_116236.1	Q96K31	CH076_HUMAN	chromosome 8 open reading frame 76	204										NS(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(4)	17	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			TGTGGAAAGAAGGATTTGATA	0.448																																						uc003yqc.1		NaN																	0				ovary(2)	2						c.(610-612)TTC>GTC		hypothetical protein LOC84933							138.0	145.0	142.0					8																	124243745		2203	4300	6503	SO:0001583	missense	84933						binding	g.chr8:124243745A>C	AK027731	CCDS6341.1	8q24.13	2012-06-27			ENSG00000189376	ENSG00000189376			25924	protein-coding gene	gene with protein product							Standard	NM_032847		Approved	FLJ14825	uc003yqc.2	Q96K31	OTTHUMG00000172562	ENST00000276704.4:c.610T>G	8.37:g.124243745A>C	ENSP00000276704:p.Phe204Val					C8orf76_uc003yqd.2_Missense_Mutation_p.F172V	p.F204V	NM_032847	NP_116236	Q96K31	CH076_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		4	641	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		204					Q53HC1	Missense_Mutation	SNP	ENST00000276704.4	37	c.610T>G	CCDS6341.1	.	.	.	.	.	.	.	.	.	.	A	9.082	0.999522	0.19121	.	.	ENSG00000189376	ENST00000276704;ENST00000357082	.	.	.	5.48	0.0715	0.14382	.	0.749250	0.13708	N	0.368352	T	0.13884	0.0336	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.26815	-1.0092	9	0.15066	T	0.55	1.793	3.914	0.09214	0.2918:0.4192:0.289:0.0	.	172;204	Q96EF9;Q96K31	.;CH076_HUMAN	V	204;172	.	ENSP00000276704:F204V	F	-	1	0	C8orf76	124312926	0.001000	0.12720	0.067000	0.19924	0.311000	0.27955	0.056000	0.14256	0.036000	0.15547	0.533000	0.62120	TTC		0.448	C8orf76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381748.1		NM_032847		75	97	0	0	0	1	0	75	97		
ZHX1	11244	broad.mit.edu	37	8	124267094	124267094	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:124267094G>C	ENST00000522655.1	-	3	1633	c.1093C>G	c.(1093-1095)Cag>Gag	p.Q365E	ZHX1_ENST00000395571.3_Missense_Mutation_p.Q365E|ZHX1-C8ORF76_ENST00000357082.4_Intron|ZHX1_ENST00000522595.1_5'Flank|ZHX1_ENST00000297857.2_Missense_Mutation_p.Q365E			Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	365	Required for dimerization.|Required for interaction with NFYA.				cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			GTTATGGTCTGAGGTACAGTA	0.433																																						uc003yqe.2		NaN																	0				ovary(1)	1						c.(1093-1095)CAG>GAG		zinc fingers and homeoboxes 1							223.0	183.0	196.0					8																	124267094		2203	4300	6503	SO:0001583	missense	11244				negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:124267094G>C	AF106862	CCDS6342.1	8q24.13	2012-03-09	2004-01-23		ENSG00000165156	ENSG00000165156		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	12871	protein-coding gene	gene with protein product		604764	"""zinc-fingers and homeoboxes 1"""			10441475	Standard	NM_001017926		Approved		uc003yqe.3	Q9UKY1	OTTHUMG00000165088	ENST00000522655.1:c.1093C>G	8.37:g.124267094G>C	ENSP00000428821:p.Gln365Glu					C8orf76_uc003yqd.2_Intron|ZHX1_uc003yqf.2_Missense_Mutation_p.Q365E|ZHX1_uc003yqg.2_Intron|ZHX1_uc010mdi.2_Missense_Mutation_p.Q365E	p.Q365E	NM_007222	NP_009153	Q9UKY1	ZHX1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		3	1523	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		365			Required for dimerization.|Required for interaction with NFYA.		Q8IWD8	Missense_Mutation	SNP	ENST00000522655.1	37	c.1093C>G	CCDS6342.1	.	.	.	.	.	.	.	.	.	.	G	18.13	3.555214	0.65425	.	.	ENSG00000165156	ENST00000297857;ENST00000395571;ENST00000522655	T;T;T	0.29917	1.55;1.55;1.55	5.27	5.27	0.74061	Homeodomain-related (1);	0.000000	0.85682	D	0.000000	T	0.56963	0.2021	.	.	.	0.80722	D	1	D	0.58970	0.984	D	0.68192	0.956	T	0.55283	-0.8165	9	0.46703	T	0.11	-9.544	19.0847	0.93198	0.0:0.0:1.0:0.0	.	365	Q9UKY1	ZHX1_HUMAN	E	365	ENSP00000297857:Q365E;ENSP00000378938:Q365E;ENSP00000428821:Q365E	ENSP00000297857:Q365E	Q	-	1	0	ZHX1	124336275	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.259000	0.95561	2.738000	0.93877	0.555000	0.69702	CAG		0.433	ZHX1-003	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000381759.1				38	241	0	0	0	1	0	38	241		
WDYHV1	55093	broad.mit.edu	37	8	124453558	124453558	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:124453558A>G	ENST00000287387.2	+	6	646	c.521A>G	c.(520-522)aAc>aGc	p.N174S	WDYHV1_ENST00000523984.1_Missense_Mutation_p.N114S|WDYHV1_ENST00000518125.1_Missense_Mutation_p.N26S|WDYHV1_ENST00000523356.1_3'UTR|WDYHV1_ENST00000517609.1_3'UTR	NM_018024.1	NP_060494.1	Q96HA8	NTAQ1_HUMAN	WDYHV motif containing 1	174					cellular protein modification process (GO:0006464)	cytosol (GO:0005829)|nucleus (GO:0005634)	protein-N-terminal glutamine amidohydrolase activity (GO:0070773)			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(3)	17						TCCAAAATGAACCTGAACGAT	0.368																																						uc003yqn.1		NaN																	0				ovary(1)|skin(1)	2						c.(520-522)AAC>AGC		WDYHV motif containing 1							48.0	42.0	44.0					8																	124453558		2203	4300	6503	SO:0001583	missense	55093				protein modification process	cytosol|nucleus	protein binding|protein N-terminal glutamine amidohydrolase activity	g.chr8:124453558A>G	AK001066	CCDS6344.1, CCDS64965.1	8q24.13	2008-10-01	2008-10-01	2008-10-01		ENSG00000156795			25490	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 32"""	C8orf32		12477932	Standard	NM_018024		Approved	FLJ10204	uc003yqn.1	Q96HA8		ENST00000287387.2:c.521A>G	8.37:g.124453558A>G	ENSP00000287387:p.Asn174Ser					WDYHV1_uc011lij.1_Missense_Mutation_p.N114S|WDYHV1_uc003yqo.1_RNA	p.N174S	NM_018024	NP_060494	Q96HA8	NTAQ1_HUMAN			6	646	+			174					B4DE68|Q9NW95	Missense_Mutation	SNP	ENST00000287387.2	37	c.521A>G	CCDS6344.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.420500	0.83559	.	.	ENSG00000156795	ENST00000287387;ENST00000523984;ENST00000518125	T;T;T	0.19250	2.16;2.16;2.16	5.78	5.78	0.91487	Protein N-terminal glutamine amidohydrolase, alpha beta roll (1);Protein N-terminal glutamine amidohydrolase (1);	0.000000	0.85682	D	0.000000	T	0.51381	0.1671	M	0.86028	2.79	0.52501	D	0.999954	D	0.89917	1.0	D	0.87578	0.998	T	0.56565	-0.7958	10	0.54805	T	0.06	-25.9403	15.0964	0.72238	1.0:0.0:0.0:0.0	.	174	Q96HA8	NTAQ1_HUMAN	S	174;114;26	ENSP00000287387:N174S;ENSP00000430427:N114S;ENSP00000429258:N26S	ENSP00000287387:N174S	N	+	2	0	WDYHV1	124522739	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.783000	0.85696	2.220000	0.72140	0.533000	0.62120	AAC		0.368	WDYHV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381772.1		NM_018024		120	47	0	0	0	1	0	120	47		
RNF139	11236	broad.mit.edu	37	8	125487416	125487416	+	Silent	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:125487416C>G	ENST00000303545.3	+	1	438	c.66C>G	c.(64-66)ctC>ctG	p.L22L	RNF139-AS1_ENST00000499418.2_lincRNA	NM_007218.3	NP_009149.2			ring finger protein 139											breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(1)	20	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			GGGCGGCGCTCGAAGTGGCGC	0.677																																						uc003yrc.2		NaN																	0				kidney(1)	1						c.(64-66)CTC>CTG		ring finger protein 139							38.0	42.0	41.0					8																	125487416		2203	4300	6503	SO:0001819	synonymous_variant	11236	Renal_Cell_Cancer_associated_with_constitutional_translocation_of_chromosome_3			negative regulation of cell proliferation|regulation of protein ubiquitination	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr8:125487416C>G	AF064801	CCDS6350.1	8q24	2013-01-09			ENSG00000170881	ENSG00000170881		"""RING-type (C3HC4) zinc fingers"""	17023	protein-coding gene	gene with protein product		603046				9689122	Standard	NM_007218		Approved	TRC8, RCA1, HRCA1	uc003yrc.3	Q8WU17	OTTHUMG00000165072	ENST00000303545.3:c.66C>G	8.37:g.125487416C>G						uc003yrb.2_5'Flank	p.L22L	NM_007218	NP_009149	Q8WU17	RN139_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		1	409	+	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		22						Silent	SNP	ENST00000303545.3	37	c.66C>G	CCDS6350.1																																																																																				0.677	RNF139-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000381692.1		NM_007218		8	71	0	0	0	1	0	8	71		
TATDN1	83940	broad.mit.edu	37	8	125499414	125499414	+	IGR	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:125499414C>G	ENST00000276692.6	-	0	1018				RNF139_ENST00000303545.3_Missense_Mutation_p.I508M|RP11-158K1.3_ENST00000518639.1_RNA	NM_032026.3	NP_114415.1	Q6P1N9	TATD1_HUMAN	TatD DNase domain containing 1						DNA catabolic process (GO:0006308)	intracellular organelle (GO:0043229)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			ATTTTAACATCTACTTACAAG	0.378																																						uc003yrc.2		NaN																	0				kidney(1)	1						c.(1522-1524)ATC>ATG		ring finger protein 139							76.0	81.0	79.0					8																	125499414		2203	4299	6502	SO:0001628	intergenic_variant	11236	Renal_Cell_Cancer_associated_with_constitutional_translocation_of_chromosome_3			negative regulation of cell proliferation|regulation of protein ubiquitination	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr8:125499414C>G	AF212250	CCDS6351.1, CCDS55273.1	8q24.13	2004-06-07			ENSG00000147687	ENSG00000147687			24220	protein-coding gene	gene with protein product						12477932	Standard	NM_032026		Approved	CDA11	uc003yrd.2	Q6P1N9	OTTHUMG00000165068		8.37:g.125499414C>G							p.I508M	NM_007218	NP_009149	Q8WU17	RN139_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		2	1867	+	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		508			Helical; (Potential).		B2R5J0|Q8TD02|Q9BY40	Missense_Mutation	SNP	ENST00000276692.6	37	c.1524C>G	CCDS6351.1	.	.	.	.	.	.	.	.	.	.	C	13.70	2.314533	0.40996	.	.	ENSG00000170881	ENST00000303545	T	0.27720	1.65	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.55049	0.1896	M	0.76574	2.34	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.54009	-0.8357	10	0.49607	T	0.09	-9.5015	13.9932	0.64380	0.0:0.9272:0.0:0.0728	.	508	Q8WU17	RN139_HUMAN	M	508	ENSP00000304051:I508M	ENSP00000304051:I508M	I	+	3	3	RNF139	125568595	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	0.763000	0.26517	2.729000	0.93468	0.561000	0.74099	ATC		0.378	TATDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381655.1		NM_032026		20	151	0	0	0	1	0	20	151		
ASAP1	50807	broad.mit.edu	37	8	131140337	131140337	+	Splice_Site	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:131140337C>T	ENST00000518721.1	-	16	1445		c.e16-1		ASAP1_ENST00000357668.1_Splice_Site	NM_001247996.1|NM_018482.3	NP_001234925.1|NP_060952.2	Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1						cilium morphogenesis (GO:0060271)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						TGATATCCATCTGTTGGTAAA	0.363																																						uc003yta.1		NaN																	0				ovary(4)	4						c.e15-1		development and differentiation enhancing factor							66.0	63.0	64.0					8																	131140337		2203	4300	6503	SO:0001630	splice_region_variant	50807				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding	g.chr8:131140337C>T	AB033075	CCDS6362.1, CCDS75788.1	8q24.1-q24.2	2013-01-11	2008-09-22	2008-09-22	ENSG00000153317	ENSG00000153317		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2720	protein-coding gene	gene with protein product	"""centaurin, beta 4"""	605953	"""development and differentiation enhancing factor 1"""	DDEF1		9819391	Standard	NM_018482		Approved	PAP, KIAA1249, ZG14P, CENTB4	uc003yta.2	Q9ULH1	OTTHUMG00000164772	ENST00000518721.1:c.1218-1G>A	8.37:g.131140337C>T						ASAP1_uc003ysz.1_Splice_Site_p.A217_splice|ASAP1_uc011liw.1_Splice_Site_p.A399_splice	p.A406_splice	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN			15	1246	-								B2RNV3	Splice_Site	SNP	ENST00000518721.1	37	c.1218_splice	CCDS6362.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.713337	0.89112	.	.	ENSG00000153317	ENST00000343135;ENST00000357668;ENST00000524124;ENST00000518721	.	.	.	5.99	5.99	0.97316	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4638	0.94931	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ASAP1	131209519	1.000000	0.71417	0.996000	0.52242	0.922000	0.55478	7.440000	0.80464	2.847000	0.97988	0.655000	0.94253	.		0.363	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380170.1		NM_018482	Intron	25	37	0	0	0	1	0	25	37		
TG	7038	broad.mit.edu	37	8	133879281	133879281	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:133879281C>T	ENST00000220616.4	+	1	76	c.36C>T	c.(34-36)gcC>gcT	p.A12A	TG_ENST00000377869.1_Silent_p.A12A	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	12					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CCCTGCTGGCCTCCATCTGCT	0.632																																						uc003ytw.2		NaN																	0				ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15						c.(34-36)GCC>GCT		thyroglobulin precursor							39.0	29.0	33.0					8																	133879281		2203	4300	6503	SO:0001819	synonymous_variant	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133879281C>T	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.36C>T	8.37:g.133879281C>T							p.A12A	NM_003235	NP_003226	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	1	77	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	12					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Silent	SNP	ENST00000220616.4	37	c.36C>T	CCDS34944.1																																																																																				0.632	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1		NM_003235		3	8	0	0	0	1	0	3	8		
SLA	6503	broad.mit.edu	37	8	134057253	134057253	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:134057253C>G	ENST00000338087.5	-	7	1279	c.460G>C	c.(460-462)Gag>Cag	p.E154Q	SLA_ENST00000524345.1_Missense_Mutation_p.E46Q|TG_ENST00000519543.1_Intron|SLA_ENST00000395352.3_Missense_Mutation_p.E171Q|TG_ENST00000220616.4_Intron|TG_ENST00000377869.1_Intron|SLA_ENST00000427060.2_Missense_Mutation_p.E194Q|TG_ENST00000542445.1_Intron|SLA_ENST00000517648.1_Intron	NM_001045556.2	NP_001039021.1	Q13239	SLAP1_HUMAN	Src-like-adaptor	154	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				positive regulation of signal transduction (GO:0009967)	endosome (GO:0005768)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1)	17	all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037)	BRCA - Breast invasive adenocarcinoma(115;0.000701)			ACCAGGTCCTCCAGGCACTGG	0.517																																						uc003ytz.2		NaN																	0				lung(1)|liver(1)	2						c.(460-462)GAG>CAG		Src-like-adaptor isoform a							154.0	136.0	142.0					8																	134057253		2203	4300	6503	SO:0001583	missense	6503					endosome	SH3/SH2 adaptor activity	g.chr8:134057253C>G		CCDS6370.1, CCDS47922.1, CCDS47923.1, CCDS64977.1, CCDS64978.1	8q24.22	2013-09-19	2001-11-28		ENSG00000155926	ENSG00000155926		"""SH2 domain containing"""	10902	protein-coding gene	gene with protein product		601099	"""Src-like-adapter"""			8825655, 11179692	Standard	NM_001045556		Approved	SLA1	uc011ljd.2	Q13239	OTTHUMG00000164439	ENST00000338087.5:c.460G>C	8.37:g.134057253C>G	ENSP00000337548:p.Glu154Gln					TG_uc003ytw.2_Intron|TG_uc010mdw.2_Intron|TG_uc011ljb.1_Intron|TG_uc011ljc.1_Intron|SLA_uc011lje.1_Missense_Mutation_p.E171Q|SLA_uc011ljf.1_Missense_Mutation_p.E46Q|SLA_uc011ljg.1_Intron|SLA_uc011ljd.1_Missense_Mutation_p.E194Q	p.E154Q	NM_001045556	NP_001039021	Q13239	SLAP1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)		7	1292	-	all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037)	154			SH2.		B7Z4J2|B7Z4L6|Q6FI01|Q9UMQ8	Missense_Mutation	SNP	ENST00000338087.5	37	c.460G>C	CCDS6370.1	.	.	.	.	.	.	.	.	.	.	C	12.62	1.991886	0.35131	.	.	ENSG00000155926	ENST00000338087;ENST00000427060;ENST00000395352;ENST00000524345;ENST00000522119	D;D;D;D;D	0.88046	-2.33;-2.33;-2.33;-2.33;-2.33	5.71	5.71	0.89125	SH2 motif (5);	0.000000	0.85682	D	0.000000	D	0.85948	0.5816	N	0.11201	0.11	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.81996	-0.0676	10	0.10902	T	0.67	-41.3599	17.3306	0.87262	0.0:1.0:0.0:0.0	.	154;154;154	Q6FI01;Q5TZW1;Q13239	.;.;SLAP1_HUMAN	Q	154;194;171;46;154	ENSP00000337548:E154Q;ENSP00000394049:E194Q;ENSP00000378759:E171Q;ENSP00000427928:E46Q;ENSP00000430596:E154Q	ENSP00000337548:E154Q	E	-	1	0	SLA	134126435	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.137000	0.77295	2.702000	0.92279	0.561000	0.74099	GAG		0.517	SLA-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378771.1				8	92	0	0	0	1	0	8	92		
TG	7038	broad.mit.edu	37	8	134108561	134108561	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:134108561C>T	ENST00000220616.4	+	43	7556	c.7516C>T	c.(7516-7518)Ctg>Ttg	p.L2506L	SLA_ENST00000524345.1_Intron|SLA_ENST00000518565.1_Intron|TG_ENST00000519543.1_Silent_p.L639L|SLA_ENST00000395352.3_Intron|TG_ENST00000377869.1_Silent_p.L2449L|SLA_ENST00000338087.5_Intron|TG_ENST00000542445.1_Silent_p.L876L|SLA_ENST00000517648.1_Intron	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2506					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AGAGGTCGATCTGCTCATTGG	0.577																																						uc003ytw.2		NaN																	0				ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15						c.(7516-7518)CTG>TTG		thyroglobulin precursor							154.0	152.0	153.0					8																	134108561		2203	4300	6503	SO:0001819	synonymous_variant	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:134108561C>T	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.7516C>T	8.37:g.134108561C>T						TG_uc010mdw.2_Silent_p.L1265L|TG_uc011ljb.1_Silent_p.L875L|TG_uc011ljc.1_Silent_p.L639L|SLA_uc003ytz.2_Intron|SLA_uc011lje.1_Intron|SLA_uc011ljf.1_Intron|SLA_uc011ljg.1_Intron|SLA_uc010mea.2_Intron	p.L2506L	NM_003235	NP_003226	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	43	7557	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	2506					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Silent	SNP	ENST00000220616.4	37	c.7516C>T	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	C	8.824	0.938268	0.18206	.	.	ENSG00000042832	ENST00000519178	.	.	.	5.05	3.18	0.36537	.	.	.	.	.	T	0.55593	0.1930	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50849	-0.8779	4	.	.	.	.	7.0867	0.25261	0.0:0.7323:0.1721:0.0957	.	.	.	.	F	961	.	.	S	+	2	0	TG	134177743	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	2.150000	0.42254	1.118000	0.41863	0.655000	0.94253	TCT		0.577	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1		NM_003235		26	237	0	0	0	1	0	26	237		
TRAPPC9	83696	broad.mit.edu	37	8	140744407	140744407	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:140744407C>T	ENST00000438773.2	-	22	3227	c.3094G>A	c.(3094-3096)Gtg>Atg	p.V1032M	TRAPPC9_ENST00000389327.3_Missense_Mutation_p.V1023M|TRAPPC9_ENST00000522504.1_5'UTR|TRAPPC9_ENST00000389328.4_Missense_Mutation_p.V1130M	NM_001160372.1	NP_001153844.1	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	1032					cell differentiation (GO:0030154)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						CAGGCCGCCACAGCCTCGCGG	0.716																																						uc003yvj.2		NaN																	0				skin(2)	2						c.(3094-3096)GTG>ATG		trafficking protein particle complex 9 isoform							20.0	22.0	21.0					8																	140744407		2199	4288	6487	SO:0001583	missense	83696				cell differentiation	endoplasmic reticulum|Golgi apparatus		g.chr8:140744407C>T	BC006206	CCDS34946.1, CCDS55278.1	8q24.3	2010-10-22			ENSG00000167632	ENSG00000167632		"""Trafficking protein particle complex"""	30832	protein-coding gene	gene with protein product	"""TRAPP 120 kDa subunit"", ""tularik gene 1"""	611966				11572484	Standard	NM_031466		Approved	IKBKBBP, NIBP, KIAA1882, T1, TRS120, MRT13	uc003yvh.2	Q96Q05	OTTHUMG00000164187	ENST00000438773.2:c.3094G>A	8.37:g.140744407C>T	ENSP00000405060:p.Val1032Met					TRAPPC9_uc003yvh.2_Missense_Mutation_p.V1130M	p.V1032M	NM_001160372	NP_001153844	Q96Q05	TPPC9_HUMAN			22	3228	-			1032					Q4VTT3|Q658K7|Q6P149|Q6ZQT3|Q7L5C4|Q86Y21|Q96SL2|Q9BQA2	Missense_Mutation	SNP	ENST00000438773.2	37	c.3094G>A	CCDS55278.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.295|9.295	1.051580|1.051580	0.19827|0.19827	.|.	.|.	ENSG00000167632|ENSG00000167632	ENST00000520857|ENST00000389328;ENST00000389327;ENST00000438773	.|.	.|.	.|.	4.8|4.8	4.8|4.8	0.61643|0.61643	.|.	.|0.287412	.|0.30473	.|N	.|0.009542	T|T	0.34745|0.34745	0.0908|0.0908	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	.|B;B	.|0.33857	.|0.171;0.429	.|B;B	.|0.42030	.|0.373;0.256	T|T	0.31223|0.31223	-0.9951|-0.9951	5|9	.|0.46703	.|T	.|0.11	.|.	10.8272|10.8272	0.46640|0.46640	0.0:0.9131:0.0:0.0869|0.0:0.9131:0.0:0.0869	.|.	.|1032;1130	.|Q96Q05;Q96Q05-2	.|TPPC9_HUMAN;.	Y|M	875|1130;1023;1032	.|.	.|ENSP00000373978:V1023M	C|V	-|-	2|1	0|0	TRAPPC9|TRAPPC9	140813589|140813589	0.987000|0.987000	0.35691|0.35691	0.022000|0.022000	0.16811|0.16811	0.014000|0.014000	0.08584|0.08584	3.095000|3.095000	0.50235|0.50235	2.357000|2.357000	0.79964|0.79964	0.655000|0.655000	0.94253|0.94253	TGT|GTG		0.716	TRAPPC9-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377749.1		NM_031466		11	17	0	0	0	1	0	11	17		
CHRAC1	54108	broad.mit.edu	37	8	141525224	141525224	+	Splice_Site	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:141525224G>C	ENST00000220913.5	+	3	476		c.e3-1		CHRAC1_ENST00000519533.1_Splice_Site	NM_017444.5	NP_059140.1	Q9NRG0	CHRC1_HUMAN	chromatin accessibility complex 1						chromatin remodeling (GO:0006338)|DNA-dependent DNA replication (GO:0006261)	CHRAC (GO:0008623)|epsilon DNA polymerase complex (GO:0008622)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|sequence-specific DNA binding (GO:0043565)			ovary(2)	2	all_cancers(97;5.52e-16)|all_epithelial(106;1.22e-13)|Lung NSC(106;4.09e-06)|all_lung(105;6e-06)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.107)			ATGTTTTTAAGATATATTACC	0.333																																						uc003yvl.2		NaN																	0				ovary(1)	1						c.e3-1		chromatin accessibility complex 1							85.0	87.0	87.0					8																	141525224		2203	4300	6503	SO:0001630	splice_region_variant	54108				chromatin remodeling	chromatin accessibility complex|epsilon DNA polymerase complex	DNA-directed DNA polymerase activity|sequence-specific DNA binding	g.chr8:141525224G>C	AF226076	CCDS6379.1	8q24.3	2008-08-07				ENSG00000104472			13544	protein-coding gene	gene with protein product	"""histone-fold protein CHRAC15"""	607268				10880450, 11000277	Standard	NM_017444		Approved	CHRAC15, YCL1	uc003yvl.3	Q9NRG0		ENST00000220913.5:c.275-1G>C	8.37:g.141525224G>C						CHRAC1_uc010mem.1_Splice_Site	p.D92_splice	NM_017444	NP_059140	Q9NRG0	CHRC1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.107)		3	473	+	all_cancers(97;5.52e-16)|all_epithelial(106;1.22e-13)|Lung NSC(106;4.09e-06)|all_lung(105;6e-06)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)								Splice_Site	SNP	ENST00000220913.5	37	c.275_splice	CCDS6379.1	.	.	.	.	.	.	.	.	.	.	G	17.73	3.461491	0.63513	.	.	ENSG00000104472	ENST00000220913;ENST00000519533;ENST00000519618	.	.	.	5.51	4.58	0.56647	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0973	0.72244	0.0:0.0:0.8576:0.1424	.	.	.	.	.	-1	.	.	.	+	.	.	CHRAC1	141594406	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.295000	0.72744	2.572000	0.86782	0.563000	0.77884	.		0.333	CHRAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377816.1		NM_017444	Intron	14	204	0	0	0	1	0	14	204		
FAM83H	286077	broad.mit.edu	37	8	144810771	144810771	+	Missense_Mutation	SNP	G	G	A	rs137854442		TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:144810771G>A	ENST00000388913.3	-	5	985	c.860C>T	c.(859-861)tCg>tTg	p.S287L		NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	287					biomineral tissue development (GO:0031214)					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GGCCGCGGCCGAGGGCACAAG	0.711																																						uc003yzk.2		NaN																	0				lung(1)|central_nervous_system(1)|pancreas(1)	3						c.(859-861)TCG>TTG		FAM83H							12.0	16.0	15.0					8																	144810771		1996	4143	6139	SO:0001583	missense	286077				biomineral tissue development			g.chr8:144810771G>A	AK127960	CCDS6410.2	8q24.3	2014-03-13			ENSG00000180921	ENSG00000180921			24797	protein-coding gene	gene with protein product		611927				18252228	Standard	NM_198488		Approved	FLJ46072	uc003yzk.3	Q6ZRV2	OTTHUMG00000133559	ENST00000388913.3:c.860C>T	8.37:g.144810771G>A	ENSP00000373565:p.Ser287Leu					FAM83H_uc010mfk.1_RNA	p.S287L	NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		5	929	-	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		287					A0JLS2|Q8N4W0	Missense_Mutation	SNP	ENST00000388913.3	37	c.860C>T	CCDS6410.2	.	.	.	.	.	.	.	.	.	.	g	16.61	3.172585	0.57584	.	.	ENSG00000180921	ENST00000388913	T	0.14893	2.47	4.75	4.75	0.60458	.	0.476723	0.16954	N	0.192752	T	0.11196	0.0273	L	0.29908	0.895	0.24611	N	0.993729	P	0.44006	0.824	B	0.28385	0.089	T	0.20075	-1.0286	10	0.25106	T	0.35	.	17.0716	0.86576	0.0:0.0:1.0:0.0	.	287	Q6ZRV2	FA83H_HUMAN	L	287	ENSP00000373565:S287L	ENSP00000373565:S287L	S	-	2	0	FAM83H	144882759	0.967000	0.33354	0.928000	0.36995	0.370000	0.29829	2.958000	0.49145	2.326000	0.78906	0.561000	0.74099	TCG		0.711	FAM83H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257632.2		NM_198488		6	12	0	0	0	1	0	6	12		
FAM83H	286077	broad.mit.edu	37	8	144812730	144812730	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:144812730G>A	ENST00000388913.3	-	2	148	c.23C>T	c.(22-24)tCc>tTc	p.S8F	MIR4664_ENST00000583819.1_RNA	NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	8					biomineral tissue development (GO:0031214)					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CCCCTGCGAGGAGCTCTGAGA	0.677																																						uc003yzk.2		NaN																	0				lung(1)|central_nervous_system(1)|pancreas(1)	3						c.(22-24)TCC>TTC		FAM83H							12.0	14.0	13.0					8																	144812730		1922	4017	5939	SO:0001583	missense	286077				biomineral tissue development			g.chr8:144812730G>A	AK127960	CCDS6410.2	8q24.3	2014-03-13			ENSG00000180921	ENSG00000180921			24797	protein-coding gene	gene with protein product		611927				18252228	Standard	NM_198488		Approved	FLJ46072	uc003yzk.3	Q6ZRV2	OTTHUMG00000133559	ENST00000388913.3:c.23C>T	8.37:g.144812730G>A	ENSP00000373565:p.Ser8Phe					FAM83H_uc010mfk.1_5'Flank	p.S8F	NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		2	92	-	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		8					A0JLS2|Q8N4W0	Missense_Mutation	SNP	ENST00000388913.3	37	c.23C>T	CCDS6410.2	.	.	.	.	.	.	.	.	.	.	g	22.0	4.225048	0.79576	.	.	ENSG00000180921	ENST00000388913	T	0.12361	2.69	4.62	3.71	0.42584	.	0.738374	0.12051	N	0.504079	T	0.38746	0.1052	M	0.75264	2.295	0.49687	D	0.999819	D	0.89917	1.0	D	0.91635	0.999	T	0.13282	-1.0515	10	0.87932	D	0	.	13.6443	0.62272	0.0:0.1627:0.8373:0.0	.	8	Q6ZRV2	FA83H_HUMAN	F	8	ENSP00000373565:S8F	ENSP00000373565:S8F	S	-	2	0	FAM83H	144884718	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.770000	0.85390	1.023000	0.39654	0.478000	0.44815	TCC		0.677	FAM83H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257632.2		NM_198488		8	24	0	0	0	1	0	8	24		
EPPK1	83481	broad.mit.edu	37	8	144942543	144942543	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:144942543C>T	ENST00000525985.1	-	2	4950	c.4879G>A	c.(4879-4881)Gag>Aag	p.E1627K				P58107	EPIPL_HUMAN	epiplakin 1	1627						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TTGAACGCCTCCTCCACGGTC	0.637																																						uc003zaa.1		NaN																	0				pancreas(1)|skin(1)	2						c.(4879-4881)GAG>AAG		epiplakin 1							62.0	70.0	67.0					8																	144942543		2042	4183	6225	SO:0001583	missense	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144942543C>T	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.4879G>A	8.37:g.144942543C>T	ENSP00000436337:p.Glu1627Lys						p.E1627K	NM_031308	NP_112598	P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		1	4892	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		1627			Plectin 27.		Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.4879G>A		.	.	.	.	.	.	.	.	.	.	C	19.83	3.901049	0.72754	.	.	ENSG00000227184	ENST00000525985	T	0.79554	-1.28	4.41	-5.93	0.02254	.	.	.	.	.	T	0.81317	0.4797	M	0.68728	2.09	0.25064	N	0.991049	P	0.42039	0.769	P	0.44422	0.449	T	0.73052	-0.4104	9	0.33940	T	0.23	.	21.9591	0.99964	0.0:0.2636:0.7364:0.0	.	1627	E9PPU0	.	K	1627	ENSP00000436337:E1627K	ENSP00000436337:E1627K	E	-	1	0	EPPK1	145014531	0.000000	0.05858	0.639000	0.29394	0.553000	0.35397	-0.116000	0.10724	-0.919000	0.03803	-0.282000	0.10007	GAG		0.637	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1		NM_031308		22	65	0	0	0	1	0	22	65		
PARP10	84875	broad.mit.edu	37	8	145059158	145059158	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:145059158C>G	ENST00000313028.7	-	5	1106	c.1012G>C	c.(1012-1014)Ggt>Cgt	p.G338R	PARP10_ENST00000525773.1_Missense_Mutation_p.G350R|PARP10_ENST00000533665.1_5'UTR|PARP10_ENST00000524918.1_Missense_Mutation_p.G338R	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	338					negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of gene expression (GO:0010629)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of protein K63-linked ubiquitination (GO:1900045)|negative regulation of viral genome replication (GO:0045071)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein poly-ADP-ribosylation (GO:0070212)|regulation of chromatin assembly (GO:0010847)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCCATGGGACCTGTCCTCAGA	0.612																																						uc003zal.3		NaN																	0				ovary(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)|pancreas(1)	6						c.(1012-1014)GGT>CGT		poly (ADP-ribose) polymerase family, member 10							80.0	80.0	80.0					8																	145059158		2203	4300	6503	SO:0001583	missense	84875					Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding	g.chr8:145059158C>G	AK027370	CCDS34960.1	8q24	2010-02-16				ENSG00000178685		"""Poly (ADP-ribose) polymerases"""	25895	protein-coding gene	gene with protein product		609564				15273990	Standard	NM_032789		Approved	FLJ14464	uc003zal.4	Q53GL7		ENST00000313028.7:c.1012G>C	8.37:g.145059158C>G	ENSP00000325618:p.Gly338Arg					PARP10_uc003zak.3_Missense_Mutation_p.G44R|PARP10_uc011lku.1_Missense_Mutation_p.G350R|PARP10_uc011lkv.1_RNA|PARP10_uc003zam.2_Missense_Mutation_p.G338R|PARP10_uc010mfn.1_Missense_Mutation_p.G253R|PARP10_uc010mfo.1_3'UTR	p.G338R	NM_032789	NP_116178	Q53GL7	PAR10_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		5	1120	-	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		338					Q8N2I0|Q8WV05|Q96CH7|Q96K72	Missense_Mutation	SNP	ENST00000313028.7	37	c.1012G>C	CCDS34960.1	.	.	.	.	.	.	.	.	.	.	C	14.77	2.635537	0.47049	.	.	ENSG00000178685	ENST00000524918;ENST00000534861;ENST00000313028;ENST00000525773;ENST00000313059	T;T;T;T	0.34667	2.81;2.82;2.81;1.35	2.37	2.37	0.29283	.	1.018890	0.07898	N	0.972112	T	0.23094	0.0558	N	0.24115	0.695	0.09310	N	1	P;P;P	0.44380	0.834;0.834;0.834	B;B;B	0.36030	0.08;0.216;0.08	T	0.11867	-1.0570	10	0.48119	T	0.1	.	8.4725	0.32993	0.0:1.0:0.0:0.0	.	350;338;338	E9PNI7;E9PK67;Q53GL7	.;.;PAR10_HUMAN	R	338;44;338;350;253	ENSP00000431620:G338R;ENSP00000325618:G338R;ENSP00000434776:G350R;ENSP00000314320:G253R	ENSP00000325618:G338R	G	-	1	0	PARP10	145131146	0.000000	0.05858	0.006000	0.13384	0.004000	0.04260	0.804000	0.27098	1.027000	0.39758	0.552000	0.68991	GGT		0.612	PARP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383866.1		NM_032789		65	68	0	0	0	1	0	65	68		
GPAA1	8733	broad.mit.edu	37	8	145140309	145140309	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:145140309G>T	ENST00000355091.4	+	10	1499	c.1378G>T	c.(1378-1380)Gag>Tag	p.E460*	GPAA1_ENST00000361036.6_Nonsense_Mutation_p.E400*	NM_003801.3	NP_003792.1	O43292	GPAA1_HUMAN	glycosylphosphatidylinositol anchor attachment 1	460					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein complex assembly (GO:0006461)|protein retention in ER lumen (GO:0006621)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|membrane (GO:0016020)	tubulin binding (GO:0015631)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(2)	19	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCCAGTGGCAGAGGCTGAGGC	0.632																																						uc003zax.2		NaN																	0					0						c.(1378-1380)GAG>TAG		glycosylphosphatidylinositol anchor attachment							28.0	32.0	31.0					8																	145140309		2180	4270	6450	SO:0001587	stop_gained	8733				attachment of GPI anchor to protein|C-terminal protein lipidation|protein complex assembly|protein retention in ER lumen	GPI-anchor transamidase complex	tubulin binding	g.chr8:145140309G>T	AB006969	CCDS43776.1	8q24.3	2012-12-10	2012-12-10		ENSG00000197858	ENSG00000197858			4446	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	603048	"""anchor attachment protein 1 (Gaa1p, yeast) homolog"", ""GPAA1P anchor attachment protein 1 homolog (yeast)"", ""glycosylphosphatidylinositol anchor attachment protein 1 homolog (yeast)"""			9828142	Standard	NM_003801		Approved	GAA1, hGAA1	uc003zax.3	O43292	OTTHUMG00000165438	ENST00000355091.4:c.1378G>T	8.37:g.145140309G>T	ENSP00000347206:p.Glu460*						p.E460*	NM_003801	NP_003792	O43292	GPAA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		10	1488	+	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		460			Helical; (Potential).		Q9NSS0|Q9UQ31	Nonsense_Mutation	SNP	ENST00000355091.4	37	c.1378G>T	CCDS43776.1	.	.	.	.	.	.	.	.	.	.	G	35	5.589747	0.96590	.	.	ENSG00000197858	ENST00000355091;ENST00000361036	.	.	.	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	-25.7889	15.8335	0.78778	0.0:0.0:1.0:0.0	.	.	.	.	X	460;400	.	ENSP00000347206:E460X	E	+	1	0	GPAA1	145212297	1.000000	0.71417	0.967000	0.41034	0.921000	0.55340	8.161000	0.89655	2.602000	0.87976	0.655000	0.94253	GAG		0.632	GPAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384070.1		NM_003801		4	35	1	0	0.00909568	1	0.00914966	4	35		
GPAA1	8733	broad.mit.edu	37	8	145140621	145140621	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:145140621G>T	ENST00000355091.4	+	11	1718	c.1597G>T	c.(1597-1599)Gcg>Tcg	p.A533S	GPAA1_ENST00000361036.6_Missense_Mutation_p.A473S	NM_003801.3	NP_003792.1	O43292	GPAA1_HUMAN	glycosylphosphatidylinositol anchor attachment 1	533					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein complex assembly (GO:0006461)|protein retention in ER lumen (GO:0006621)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|membrane (GO:0016020)	tubulin binding (GO:0015631)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(2)	19	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCCCACTGCTGCGCTTGCCAA	0.612																																						uc003zax.2		NaN																	0					0						c.(1597-1599)GCG>TCG		glycosylphosphatidylinositol anchor attachment							69.0	76.0	74.0					8																	145140621		2100	4230	6330	SO:0001583	missense	8733				attachment of GPI anchor to protein|C-terminal protein lipidation|protein complex assembly|protein retention in ER lumen	GPI-anchor transamidase complex	tubulin binding	g.chr8:145140621G>T	AB006969	CCDS43776.1	8q24.3	2012-12-10	2012-12-10		ENSG00000197858	ENSG00000197858			4446	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	603048	"""anchor attachment protein 1 (Gaa1p, yeast) homolog"", ""GPAA1P anchor attachment protein 1 homolog (yeast)"", ""glycosylphosphatidylinositol anchor attachment protein 1 homolog (yeast)"""			9828142	Standard	NM_003801		Approved	GAA1, hGAA1	uc003zax.3	O43292	OTTHUMG00000165438	ENST00000355091.4:c.1597G>T	8.37:g.145140621G>T	ENSP00000347206:p.Ala533Ser						p.A533S	NM_003801	NP_003792	O43292	GPAA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		11	1707	+	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		533			Lumenal (Potential).		Q9NSS0|Q9UQ31	Missense_Mutation	SNP	ENST00000355091.4	37	c.1597G>T	CCDS43776.1	.	.	.	.	.	.	.	.	.	.	G	10.20	1.285075	0.23392	.	.	ENSG00000197858	ENST00000355091;ENST00000361036	.	.	.	4.86	3.99	0.46301	.	0.184288	0.45867	D	0.000335	T	0.63010	0.2475	L	0.51422	1.61	0.41587	D	0.988776	B	0.31655	0.334	B	0.43018	0.405	T	0.63808	-0.6553	9	0.46703	T	0.11	-3.3389	11.0801	0.48055	0.0906:0.0:0.9094:0.0	.	533	O43292	GPAA1_HUMAN	S	533;473	.	ENSP00000347206:A533S	A	+	1	0	GPAA1	145212609	1.000000	0.71417	0.062000	0.19696	0.004000	0.04260	8.587000	0.90810	1.265000	0.44215	-0.150000	0.13652	GCG		0.612	GPAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384070.1		NM_003801		10	122	1	0	2.80697e-09	1	2.97985e-09	10	122		
ZNF7	7553	broad.mit.edu	37	8	146067042	146067042	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:146067042C>G	ENST00000528372.1	+	5	790	c.550C>G	c.(550-552)Ctt>Gtt	p.L184V	ZNF7_ENST00000529819.1_Intron|ZNF7_ENST00000525266.1_Intron|ZNF7_ENST00000544249.1_Missense_Mutation_p.L88V|ZNF7_ENST00000532393.1_3'UTR|ZNF7_ENST00000325217.5_Intron|ZNF7_ENST00000325241.6_Missense_Mutation_p.L184V|ZNF7_ENST00000446747.2_Missense_Mutation_p.L195V			P17097	ZNF7_HUMAN	zinc finger protein 7	184					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(5)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143)	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;2.11e-07)		TTGTCAGCCTCTTGAAAGTCA	0.537																																						uc003zeg.3		NaN																	0				ovary(4)	4						c.(550-552)CTT>GTT		zinc finger protein 7							67.0	68.0	68.0					8																	146067042		2203	4300	6503	SO:0001583	missense	7553				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:146067042C>G	AB209619	CCDS6435.1, CCDS64996.1, CCDS64998.1, CCDS64999.1	8q24	2013-01-08	2006-05-09		ENSG00000147789	ENSG00000147789		"""Zinc fingers, C2H2-type"", ""-"""	13139	protein-coding gene	gene with protein product		194531	"""zinc finger protein 7 (KOX 4, clone HF.16)"""			2106481, 1946370	Standard	NM_003416		Approved	KOX4, HF.16	uc003zeg.4	P17097	OTTHUMG00000165200	ENST00000528372.1:c.550C>G	8.37:g.146067042C>G	ENSP00000432724:p.Leu184Val					ZNF7_uc010mge.2_Missense_Mutation_p.L195V|ZNF7_uc011lln.1_Missense_Mutation_p.L88V|ZNF7_uc003zeh.2_Intron|ZNF7_uc003zek.3_Missense_Mutation_p.L88V|COMMD5_uc003zel.1_RNA	p.L184V	NM_003416	NP_003407	P17097	ZNF7_HUMAN	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;2.11e-07)	5	687	+	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143)	184					B4DT08|D3DWN6|P17015|Q8N8Y4	Missense_Mutation	SNP	ENST00000528372.1	37	c.550C>G	CCDS6435.1	.	.	.	.	.	.	.	.	.	.	C	6.331	0.429086	0.11987	.	.	ENSG00000147789	ENST00000532777;ENST00000325241;ENST00000446747;ENST00000544249;ENST00000528372	T;T;T;T;T	0.06218	6.88;3.43;3.42;3.33;3.43	4.97	-0.954	0.10359	.	1.636200	0.03620	N	0.236171	T	0.10723	0.0262	M	0.78916	2.43	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.40403	-0.9565	10	0.49607	T	0.09	-0.2348	5.8072	0.18446	0.5226:0.1508:0.3266:0.0	.	195;184	B4DT08;P17097	.;ZNF7_HUMAN	V	184;184;195;88;184	ENSP00000432641:L184V;ENSP00000320627:L184V;ENSP00000393260:L195V;ENSP00000439424:L88V;ENSP00000432724:L184V	ENSP00000320627:L184V	L	+	1	0	ZNF7	146037846	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.868000	0.04236	-0.235000	0.09767	-0.502000	0.04539	CTT		0.537	ZNF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382660.1		NM_003416		13	85	0	0	0	1	0	13	85		
MLANA	2315	broad.mit.edu	37	9	5908664	5908664	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr9:5908664G>C	ENST00000381477.3	+	5	473	c.313G>C	c.(313-315)Gag>Cag	p.E105Q	MLANA_ENST00000381471.1_Missense_Mutation_p.E105Q|MLANA_ENST00000381476.1_Missense_Mutation_p.E105Q|KIAA2026_ENST00000443149.2_Intron	NM_005511.1	NP_005502.1	Q16655	MAR1_HUMAN	melan-A	105						endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|melanosome (GO:0042470)|trans-Golgi network (GO:0005802)				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(1)	8		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(1;1.15e-06)|Lung(218;0.103)		ACCTGCTTATGAGAAACTCTC	0.433																																						uc003zjo.1		NaN																	0					0						c.(313-315)GAG>CAG		melan-A							155.0	142.0	146.0					9																	5908664		2203	4300	6503	SO:0001583	missense	2315					endoplasmic reticulum membrane|integral to plasma membrane|melanosome|trans-Golgi network	protein binding	g.chr9:5908664G>C		CCDS6466.1	9p24.1	2008-02-05			ENSG00000120215	ENSG00000120215			7124	protein-coding gene	gene with protein product		605513					Standard	NM_005511		Approved	MART1	uc003zjo.1	Q16655	OTTHUMG00000019510	ENST00000381477.3:c.313G>C	9.37:g.5908664G>C	ENSP00000370886:p.Glu105Gln						p.E105Q	NM_005511	NP_005502	Q16655	MAR1_HUMAN		GBM - Glioblastoma multiforme(1;1.15e-06)|Lung(218;0.103)	5	366	+		Acute lymphoblastic leukemia(23;0.158)	105			Cytoplasmic (Potential).		Q6ICU4	Missense_Mutation	SNP	ENST00000381477.3	37	c.313G>C	CCDS6466.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.937328	0.73557	.	.	ENSG00000120215	ENST00000381477;ENST00000381476;ENST00000381471	.	.	.	4.92	4.92	0.64577	.	0.108135	0.64402	D	0.000010	T	0.72724	0.3496	M	0.64997	1.995	0.33543	D	0.595161	D	0.76494	0.999	D	0.77004	0.989	T	0.79948	-0.1588	9	0.62326	D	0.03	-15.047	15.3199	0.74112	0.0:0.0:1.0:0.0	.	105	Q16655	MAR1_HUMAN	Q	105	.	ENSP00000370880:E105Q	E	+	1	0	MLANA	5898664	1.000000	0.71417	1.000000	0.80357	0.738000	0.42128	4.808000	0.62583	2.715000	0.92844	0.655000	0.94253	GAG		0.433	MLANA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051643.1				26	28	0	0	0	1	0	26	28		
KIAA2026	158358	broad.mit.edu	37	9	5954074	5954074	+	Missense_Mutation	SNP	T	T	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr9:5954074T>G	ENST00000399933.3	-	4	2233	c.2234A>C	c.(2233-2235)aAa>aCa	p.K745T	KIAA2026_ENST00000381461.2_Missense_Mutation_p.K745T	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	745	Lys-rich.									breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		TGTGATTGCTTTTTTAGAGAC	0.308																																						uc003zjq.3		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(2233-2235)AAA>ACA		hypothetical protein LOC158358							163.0	145.0	150.0					9																	5954074		1799	4060	5859	SO:0001583	missense	158358							g.chr9:5954074T>G	AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.2234A>C	9.37:g.5954074T>G	ENSP00000382815:p.Lys745Thr					KIAA2026_uc010mht.2_5'UTR	p.K745T	NM_001017969	NP_001017969	Q5HYC2	K2026_HUMAN		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)	4	2450	-		Acute lymphoblastic leukemia(23;0.158)	745			Lys-rich.		A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Missense_Mutation	SNP	ENST00000399933.3	37	c.2234A>C		.	.	.	.	.	.	.	.	.	.	T	13.10	2.135219	0.37728	.	.	ENSG00000183354	ENST00000399933;ENST00000381461	.	.	.	5.97	5.97	0.96955	.	.	.	.	.	T	0.52354	0.1729	N	0.14661	0.345	0.31636	N	0.64845	D	0.76494	0.999	D	0.69479	0.964	T	0.61686	-0.7012	8	0.72032	D	0.01	.	15.0245	0.71659	0.0:0.0:0.0:1.0	.	745	Q5HYC2	K2026_HUMAN	T	745	.	ENSP00000370870:K745T	K	-	2	0	KIAA2026	5944074	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.810000	0.62598	2.285000	0.76669	0.477000	0.44152	AAA		0.308	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051652.2		NM_001017969		2	1	0	0	0	1	0	2	1		
PSIP1	11168	broad.mit.edu	37	9	15490123	15490123	+	Splice_Site	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr9:15490123C>A	ENST00000380733.4	-	4	493		c.e4-1		PSIP1_ENST00000380715.1_Splice_Site|PSIP1_ENST00000397519.2_Splice_Site|PSIP1_ENST00000380738.4_Splice_Site|PSIP1_ENST00000380716.4_Splice_Site			O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1						establishment of integrated proviral latency (GO:0075713)|mRNA 5'-splice site recognition (GO:0000395)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to heat (GO:0009408)|response to oxidative stress (GO:0006979)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear heterochromatin (GO:0005720)|nuclear periphery (GO:0034399)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription coactivator activity (GO:0001105)|supercoiled DNA binding (GO:0097100)			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		TAAAAAAGCACTAAAAAAGAA	0.313																																						uc003zlv.3		NaN																	0				breast(1)	1						c.e4-1		PC4 and SFRS1 interacting protein 1 isoform 2							62.0	57.0	59.0					9																	15490123		2203	4296	6499	SO:0001630	splice_region_variant	11168				initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|nucleoplasm|transcriptionally active chromatin	activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity	g.chr9:15490123C>A	AF098482	CCDS6479.1, CCDS6480.1	9p22.2	2008-02-05	2004-02-24		ENSG00000164985	ENSG00000164985			9527	protein-coding gene	gene with protein product		603620	"""PC4 and SFRS1 interacting protein 2"""	PSIP2		9822615, 9885563	Standard	NM_033222		Approved	p52, LEDGF, p75	uc003zlw.4	O75475	OTTHUMG00000021021	ENST00000380733.4:c.150-1G>T	9.37:g.15490123C>A						PSIP1_uc003zlw.3_Splice_Site_p.T50_splice|PSIP1_uc003zlz.3_Splice_Site_p.T50_splice|PSIP1_uc003zma.3_Splice_Site_p.T50_splice|PSIP1_uc003zly.2_Splice_Site_p.T50_splice	p.T50_splice	NM_033222	NP_150091	O75475	PSIP1_HUMAN		GBM - Glioblastoma multiforme(50;2.38e-06)	4	480	-								D3DRI9|O00256|O95368|Q6P391|Q86YB9|Q9NZI3|Q9UER6	Splice_Site	SNP	ENST00000380733.4	37	c.150_splice	CCDS6479.1	.	.	.	.	.	.	.	.	.	.	C	18.66	3.671953	0.67928	.	.	ENSG00000164985	ENST00000380733;ENST00000380738;ENST00000380715;ENST00000380716;ENST00000397519	.	.	.	5.89	5.89	0.94794	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.301	0.98609	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PSIP1	15480123	1.000000	0.71417	0.996000	0.52242	0.605000	0.37080	7.546000	0.82137	2.809000	0.96659	0.555000	0.69702	.		0.313	PSIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055445.1		NM_033222	Intron	14	1	1	0	1.15088e-07	1	1.21289e-07	14	1		
CDKN2A	1029	broad.mit.edu	37	9	21974736	21974736	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr9:21974736G>C	ENST00000304494.5	-	1	361	c.91C>G	c.(91-93)Ctg>Gtg	p.L31V	CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000498124.1_Missense_Mutation_p.L31V|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000446177.1_Missense_Mutation_p.L31V|CDKN2A_ENST00000579122.1_Missense_Mutation_p.L31V|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579755.1_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	31					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.?(23)|p.V28_E33del(2)|p.R29_A34del(2)|p.0(1)|p.V28_V51del(1)|p.R29fs*9(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)		GCCTCCAGCAGCGCCCGCACC	0.736		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												uc003zpk.2		17																	1345	Whole gene deletion(1316)|Unknown(23)|Deletion - In frame(5)|Deletion - Frameshift(1)	p.0?(1112)|p.?(23)|p.V28_E33del(2)|p.R29_A34del(2)|p.V28_V51del(1)|p.R29fs*9(1)|p.L31P(1)	haematopoietic_and_lymphoid_tissue(278)|skin(168)|central_nervous_system(163)|lung(146)|urinary_tract(90)|bone(73)|soft_tissue(57)|pleura(52)|oesophagus(52)|upper_aerodigestive_tract(48)|ovary(34)|pancreas(32)|kidney(31)|breast(30)|thyroid(14)|biliary_tract(13)|NS(12)|stomach(12)|autonomic_ganglia(7)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|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						c.(91-93)CTG>GTG		cyclin-dependent kinase inhibitor 2A isoform 1							26.0	34.0	32.0					9																	21974736		1970	3961	5931	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.chr9:21974736G>C	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.91C>G	9.37:g.21974736G>C	ENSP00000307101:p.Leu31Val	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_Missense_Mutation_p.L31V|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Intron	p.L31V	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)	1	303	-		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)	31			ANK 1.		A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Missense_Mutation	SNP	ENST00000304494.5	37	c.91C>G	CCDS6510.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.395163	0.83011	.	.	ENSG00000147889	ENST00000304494;ENST00000446177	D;D	0.90004	-2.6;-2.6	4.89	4.89	0.63831	Ankyrin repeat-containing domain (3);	.	.	.	.	D	0.95736	0.8613	H	0.95780	3.72	0.80722	D	1	D;D	0.89917	0.995;1.0	D;D	0.79784	0.99;0.993	D	0.96213	0.9154	9	0.87932	D	0	.	12.4108	0.55466	0.0:0.0:0.8316:0.1684	.	31;31	P42771;G3XAG3	CD2A1_HUMAN;.	V	31	ENSP00000307101:L31V;ENSP00000394932:L31V	ENSP00000307101:L31V	L	-	1	2	CDKN2A	21964736	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	6.908000	0.75730	2.681000	0.91329	0.655000	0.94253	CTG		0.736	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1		NM_000077		10	19	0	0	0	1	0	10	19		
TAF1L	138474	broad.mit.edu	37	9	32630951	32630951	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr9:32630951C>G	ENST00000242310.4	-	1	4716	c.4627G>C	c.(4627-4629)Gat>Cat	p.D1543H	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1543	Bromo 2. {ECO:0000255|PROSITE- ProRule:PRU00035}.				DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GGCCAAGAATCTGGAACTGCC	0.388																																						uc003zrg.1		NaN																	0				lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26						c.(4627-4629)GAT>CAT		TBP-associated factor RNA polymerase 1-like							137.0	127.0	130.0					9																	32630951		2203	4300	6503	SO:0001583	missense	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32630951C>G	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.4627G>C	9.37:g.32630951C>G	ENSP00000418379:p.Asp1543His					uc003zrh.1_5'Flank	p.D1543H	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	4717	-			1543			Bromo 2.		Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	c.4627G>C	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	C	18.55	3.647589	0.67358	.	.	ENSG00000122728	ENST00000242310	T	0.28255	1.62	0.489	0.489	0.16854	Bromodomain (6);	0.000000	0.85682	D	0.000000	T	0.30572	0.0769	N	0.17674	0.51	0.52099	D	0.999941	D	0.58970	0.984	D	0.63192	0.912	T	0.09143	-1.0688	10	0.87932	D	0	.	6.7111	0.23278	0.0:0.9999:0.0:1.0E-4	.	1543	Q8IZX4	TAF1L_HUMAN	H	1543	ENSP00000418379:D1543H	ENSP00000418379:D1543H	D	-	1	0	TAF1L	32620951	1.000000	0.71417	0.997000	0.53966	0.936000	0.57629	4.398000	0.59697	0.514000	0.28300	0.205000	0.17691	GAT		0.388	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2				8	49	0	0	0	1	0	8	49		
PRSS3	5646	broad.mit.edu	37	9	33797839	33797839	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr9:33797839G>A	ENST00000361005.5	+	3	384	c.384G>A	c.(382-384)gtG>gtA	p.V128V	PRSS3_ENST00000379405.3_Silent_p.V71V|PRSS3_ENST00000429677.3_Silent_p.V64V|PRSS3_ENST00000342836.4_Silent_p.V85V|RP11-133O22.6_ENST00000454429.2_RNA	NM_007343.3	NP_031369	P35030	TRY3_HUMAN	protease, serine, 3	128	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|endothelial cell migration (GO:0043542)|innate immune response (GO:0045087)|proteolysis (GO:0006508)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	13			LUSC - Lung squamous cell carcinoma(29;0.0176)			GCATCCAGGTGAGACTGGGAG	0.587																																						uc003ztj.3		NaN																	0					0						c.(382-384)GTG>GTA		mesotrypsin isoform 1 preproprotein							125.0	113.0	117.0					9																	33797839		2203	4300	6503	SO:0001819	synonymous_variant	5646				digestion|endothelial cell migration|zymogen activation	extracellular space	calcium ion binding|protein binding|serine-type endopeptidase activity|serine-type peptidase activity	g.chr9:33797839G>A		CCDS6545.1, CCDS47958.1, CCDS56570.1, CCDS56571.1	9p13	2010-05-07	2008-03-11		ENSG00000010438	ENSG00000010438	3.4.21.4	"""Serine peptidases / Serine peptidases"""	9486	protein-coding gene	gene with protein product	"""mesotrypsin"""	613578	"""protease, serine, 4 (trypsin 4, brain)"", ""protease, serine, 3 (mesotrypsin)"""	PRSS4		2326201, 8294000	Standard	NM_002771		Approved	TRY3, TRY4	uc003ztj.4	P35030	OTTHUMG00000019798	ENST00000361005.5:c.384G>A	9.37:g.33797839G>A						uc003ztk.1_Intron|PRSS3_uc003zti.3_Silent_p.V85V|PRSS3_uc003ztl.3_Silent_p.V71V	p.V128V	NM_007343	NP_031369	P35030	TRY3_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0176)		3	384	+			128			Peptidase S1.		A8CED1|A8CED3|A9Z1Y4|E7ES07|F8W7P3|P15951|Q15665|Q5VXV0|Q6ISJ4|Q9UQV3	Silent	SNP	ENST00000361005.5	37	c.384G>A	CCDS47958.1																																																																																				0.587	PRSS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052121.1		NM_002771		4	48	0	0	0	1	0	4	48		
TLN1	7094	broad.mit.edu	37	9	35698825	35698825	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr9:35698825C>G	ENST00000314888.9	-	53	7458	c.7105G>C	c.(7105-7107)Gaa>Caa	p.E2369Q	TLN1_ENST00000540444.1_Missense_Mutation_p.E2257Q	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	2369	I/LWEQ. {ECO:0000255|PROSITE- ProRule:PRU00292}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GCCACTAGTTCTCTCTGGGCA	0.522																																						uc003zxt.2		NaN																	0				lung(7)|breast(3)|ovary(2)|central_nervous_system(1)	13						c.(7105-7107)GAA>CAA		talin 1							71.0	71.0	71.0					9																	35698825		2203	4300	6503	SO:0001583	missense	7094				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding	g.chr9:35698825C>G	AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.7105G>C	9.37:g.35698825C>G	ENSP00000316029:p.Glu2369Gln						p.E2369Q	NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		53	7459	-	all_epithelial(49;0.167)		2369			I/LWEQ.		A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	ENST00000314888.9	37	c.7105G>C	CCDS35009.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.761961	0.89932	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.40225	1.04;1.04	5.81	5.81	0.92471	I/LWEQ (4);	0.000000	0.85682	D	0.000000	T	0.76104	0.3941	H	0.94385	3.53	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82424	-0.0464	10	0.87932	D	0	-17.5062	19.683	0.95971	0.0:1.0:0.0:0.0	.	2369	Q9Y490	TLN1_HUMAN	Q	2369;2257	ENSP00000316029:E2369Q;ENSP00000442981:E2257Q	ENSP00000316029:E2369Q	E	-	1	0	TLN1	35688825	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.747000	0.85070	2.738000	0.93877	0.655000	0.94253	GAA		0.522	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2		NM_006289		15	30	0	0	0	1	0	15	30		
SMC5	23137	broad.mit.edu	37	9	72892386	72892386	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr9:72892386C>T	ENST00000361138.5	+	4	599	c.541C>T	c.(541-543)Cag>Tag	p.Q181*		NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN	structural maintenance of chromosomes 5	181					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)	p.Q181*(1)		breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						GTTTCTCCCTCAGGTATGAGA	0.338																																						uc004ahr.2		NaN																	1	Substitution - Nonsense(1)		kidney(1)	ovary(2)|central_nervous_system(1)	3						c.(541-543)CAG>TAG		SMC5 protein							65.0	70.0	68.0					9																	72892386		2203	4300	6503	SO:0001587	stop_gained	23137				DNA recombination|DNA repair	chromosome|nucleus	ATP binding	g.chr9:72892386C>T	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.541C>T	9.37:g.72892386C>T	ENSP00000354957:p.Gln181*						p.Q181*	NM_015110	NP_055925	Q8IY18	SMC5_HUMAN			4	658	+			181					A6NM81|O60335|Q05D92|Q5VZ60|Q96SB9	Nonsense_Mutation	SNP	ENST00000361138.5	37	c.541C>T	CCDS6632.1	.	.	.	.	.	.	.	.	.	.	C	36	5.973841	0.97162	.	.	ENSG00000198887	ENST00000361138	.	.	.	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-12.9262	19.5531	0.95330	0.0:1.0:0.0:0.0	.	.	.	.	X	181	.	ENSP00000354957:Q181X	Q	+	1	0	SMC5	72082206	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	7.487000	0.81328	2.634000	0.89283	0.460000	0.39030	CAG		0.338	SMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052603.1		NM_015110		16	19	0	0	0	1	0	16	19		
ABHD17B	51104	broad.mit.edu	37	9	74489886	74489886	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr9:74489886C>T	ENST00000333421.6	-	2	222	c.111G>A	c.(109-111)ctG>ctA	p.L37L	ABHD17B_ENST00000377041.2_Silent_p.L37L	NM_001025780.1	NP_001020951.1	Q5VST6	AB17B_HUMAN	abhydrolase domain containing 17B	37						extracellular region (GO:0005576)|membrane (GO:0016020)	hydrolase activity (GO:0016787)										CATCACACATCAGTGTGTAAG	0.428																																						uc004aim.1		NaN																	0					0						c.(109-111)CTG>CTA		family with sequence similarity 108, member B1							120.0	113.0	115.0					9																	74489886		2203	4300	6503	SO:0001819	synonymous_variant	51104					extracellular region	hydrolase activity	g.chr9:74489886C>T	AF151825	CCDS35042.1, CCDS35043.1	9q21.2	2013-03-15	2013-03-15	2013-03-15	ENSG00000107362	ENSG00000107362		"""Abhydrolase domain containing"""	24278	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 77"", ""family with sequence similarity 108, member B1"""	C9orf77, FAM108B1		10810093	Standard	XM_006717134		Approved	CGI-67	uc004ail.3	Q5VST6	OTTHUMG00000020001	ENST00000333421.6:c.111G>A	9.37:g.74489886C>T						FAM108B1_uc004ail.2_Silent_p.L37L	p.L37L	NM_001025780	NP_001020951	Q5VST6	F108B_HUMAN			2	713	-			37					A8KAJ5|Q5VST7|Q86YB6|Q8IY03|Q9Y377	Silent	SNP	ENST00000333421.6	37	c.111G>A	CCDS35043.1																																																																																				0.428	ABHD17B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052625.1		NM_016014		7	74	0	0	0	1	0	7	74		
ROR2	4920	broad.mit.edu	37	9	94487117	94487117	+	Silent	SNP	G	G	A	rs369086816		TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr9:94487117G>A	ENST00000375708.3	-	9	1857	c.1659C>T	c.(1657-1659)ttC>ttT	p.F553F	ROR2_ENST00000375715.1_Silent_p.F413F|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	553	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|embryonic genitalia morphogenesis (GO:0030538)|inner ear morphogenesis (GO:0042472)|JNK cascade (GO:0007254)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	clathrin-coated endocytic vesicle membrane (GO:0030669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						AACAGTAGCTGAAGATCATGC	0.637																																						uc004arj.1		NaN																	0				lung(8)|central_nervous_system(5)|ovary(3)|large_intestine(2)|stomach(1)|breast(1)	20						c.(1657-1659)TTC>TTT		receptor tyrosine kinase-like orphan receptor 2							69.0	67.0	68.0					9																	94487117		2203	4300	6503	SO:0001819	synonymous_variant	4920				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding	g.chr9:94487117G>A	M97639	CCDS6691.1	9q22	2013-01-11			ENSG00000169071	ENSG00000169071		"""Immunoglobulin superfamily / I-set domain containing"""	10257	protein-coding gene	gene with protein product		602337		NTRKR2, BDB, BDB1		1334494, 10700182	Standard	NM_004560		Approved		uc004arj.2	Q01974	OTTHUMG00000020211	ENST00000375708.3:c.1659C>T	9.37:g.94487117G>A						ROR2_uc004ari.1_Silent_p.F413F	p.F553F	NM_004560	NP_004551	Q01974	ROR2_HUMAN			9	1858	-			553			Cytoplasmic (Potential).|Protein kinase.		Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	Silent	SNP	ENST00000375708.3	37	c.1659C>T	CCDS6691.1																																																																																				0.637	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053040.1				31	4	0	0	0	1	0	31	4		
TEX10	54881	broad.mit.edu	37	9	103090142	103090142	+	Silent	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr9:103090142G>T	ENST00000374902.4	-	8	1904	c.1728C>A	c.(1726-1728)atC>atA	p.I576I	TEX10_ENST00000535814.1_Silent_p.I579I	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN	testis expressed 10	576						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|MLL1 complex (GO:0071339)				NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		CGGTATGAATGATATCGATAA	0.418																																						uc004bas.2		NaN																	0				ovary(1)|skin(1)	2						c.(1726-1728)ATC>ATA		testis expressed 10 isoform 1							112.0	100.0	104.0					9																	103090142		2203	4300	6503	SO:0001819	synonymous_variant	54881					integral to membrane|MLL1 complex|nuclear membrane|nucleolus	binding	g.chr9:103090142G>T	AB060968	CCDS6748.1, CCDS55330.1	9q31.1	2012-05-02	2007-03-13		ENSG00000136891	ENSG00000136891			25988	protein-coding gene	gene with protein product			"""testis expressed gene 10"", ""testis expressed sequence 10"""			12477932	Standard	NM_017746		Approved	FLJ20287, bA208F1.2, Ipi1	uc004bas.3	Q9NXF1	OTTHUMG00000020366	ENST00000374902.4:c.1728C>A	9.37:g.103090142G>T						TEX10_uc011lvf.1_Silent_p.I415I|TEX10_uc011lvg.1_Silent_p.I579I	p.I576I	NM_017746	NP_060216	Q9NXF1	TEX10_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.157)	8	1943	-		Acute lymphoblastic leukemia(62;0.0527)	576					B4DYV2|Q5T722|Q5T723|Q8NCN8|Q8TDY0	Silent	SNP	ENST00000374902.4	37	c.1728C>A	CCDS6748.1																																																																																				0.418	TEX10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053416.1		NM_017746		26	8	1	0	3.01185e-09	1	3.194e-09	26	8		
OR13C3	138803	broad.mit.edu	37	9	107298330	107298330	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr9:107298330G>C	ENST00000374781.2	-	1	807	c.765C>G	c.(763-765)atC>atG	p.I255M		NM_001001961.1	NP_001001961.1	Q8NGS6	O13C3_HUMAN	olfactory receptor, family 13, subfamily C, member 3	255						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						TCATTTGCAAGATGGTGTAGA	0.413																																					GBM(86;1248 1274 14222 15028 46219)	uc004bcb.1		NaN																	0				pancreas(1)	1						c.(763-765)ATC>ATG		olfactory receptor, family 13, subfamily C,							98.0	95.0	96.0					9																	107298330		2203	4300	6503	SO:0001583	missense	138803				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107298330G>C		CCDS35089.1	9q31.1	2013-09-24			ENSG00000204246	ENSG00000204246		"""GPCR / Class A : Olfactory receptors"""	14704	protein-coding gene	gene with protein product							Standard	NM_001001961		Approved		uc004bcb.1	Q8NGS6	OTTHUMG00000020406	ENST00000374781.2:c.765C>G	9.37:g.107298330G>C	ENSP00000363913:p.Ile255Met						p.I255M	NM_001001961	NP_001001961	Q8NGS6	O13C3_HUMAN			1	765	-			255			Cytoplasmic (Potential).		Q5VVG1|Q6IF52	Missense_Mutation	SNP	ENST00000374781.2	37	c.765C>G	CCDS35089.1	.	.	.	.	.	.	.	.	.	.	G	13.92	2.382422	0.42207	.	.	ENSG00000204246	ENST00000374781	T	0.00274	8.35	4.27	4.27	0.50696	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43416	U	0.000568	T	0.00845	0.0028	M	0.93594	3.435	0.25516	N	0.987411	D	0.89917	1.0	D	0.74023	0.982	T	0.17684	-1.0361	10	0.87932	D	0	.	9.7588	0.40519	0.0:0.0:0.7942:0.2058	.	255	Q8NGS6	O13C3_HUMAN	M	255	ENSP00000363913:I255M	ENSP00000363913:I255M	I	-	3	3	OR13C3	106338151	0.000000	0.05858	1.000000	0.80357	0.856000	0.48823	0.016000	0.13377	2.366000	0.80165	0.655000	0.94253	ATC		0.413	OR13C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053477.2				57	9	0	0	0	1	0	57	9		
OR13C3	138803	broad.mit.edu	37	9	107298688	107298688	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr9:107298688G>A	ENST00000374781.2	-	1	449	c.407C>T	c.(406-408)gCa>gTa	p.A136V		NM_001001961.1	NP_001001961.1	Q8NGS6	O13C3_HUMAN	olfactory receptor, family 13, subfamily C, member 3	136						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						TGACCCCATTGCAAACCCAAA	0.453																																					GBM(86;1248 1274 14222 15028 46219)	uc004bcb.1		NaN																	0				pancreas(1)	1						c.(406-408)GCA>GTA		olfactory receptor, family 13, subfamily C,							226.0	193.0	204.0					9																	107298688		2203	4300	6503	SO:0001583	missense	138803				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107298688G>A		CCDS35089.1	9q31.1	2013-09-24			ENSG00000204246	ENSG00000204246		"""GPCR / Class A : Olfactory receptors"""	14704	protein-coding gene	gene with protein product							Standard	NM_001001961		Approved		uc004bcb.1	Q8NGS6	OTTHUMG00000020406	ENST00000374781.2:c.407C>T	9.37:g.107298688G>A	ENSP00000363913:p.Ala136Val						p.A136V	NM_001001961	NP_001001961	Q8NGS6	O13C3_HUMAN			1	407	-			136			Helical; Name=3; (Potential).		Q5VVG1|Q6IF52	Missense_Mutation	SNP	ENST00000374781.2	37	c.407C>T	CCDS35089.1	.	.	.	.	.	.	.	.	.	.	G	14.83	2.653401	0.47362	.	.	ENSG00000204246	ENST00000374781	T	0.02177	4.41	4.72	4.72	0.59763	GPCR, rhodopsin-like superfamily (1);	0.159833	0.29093	N	0.013176	T	0.03095	0.0091	L	0.39566	1.225	0.24453	N	0.994472	P	0.48503	0.911	B	0.40066	0.318	T	0.40924	-0.9537	10	0.62326	D	0.03	.	15.5529	0.76167	0.0:0.0:1.0:0.0	.	136	Q8NGS6	O13C3_HUMAN	V	136	ENSP00000363913:A136V	ENSP00000363913:A136V	A	-	2	0	OR13C3	106338509	0.002000	0.14202	1.000000	0.80357	0.909000	0.53808	1.340000	0.33896	2.610000	0.88304	0.591000	0.81541	GCA		0.453	OR13C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053477.2				53	87	0	0	0	1	0	53	87		
C9orf152	401546	broad.mit.edu	37	9	112963584	112963584	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr9:112963584C>G	ENST00000400613.4	-	2	973	c.364G>C	c.(364-366)Gag>Cag	p.E122Q	C9orf152_ENST00000473442.1_Intron	NM_001012993.2	NP_001013011.2	Q5JTZ5	CI152_HUMAN	chromosome 9 open reading frame 152	122										NS(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						CAATGCATCTCCAGGTGCGTG	0.587																																						uc011lwk.1		NaN																	0					0						c.(364-366)GAG>CAG		hypothetical protein LOC401546							103.0	94.0	97.0					9																	112963584		2203	4300	6503	SO:0001583	missense	401546							g.chr9:112963584C>G	BX648620	CCDS35102.2	9q31.3	2012-04-03			ENSG00000188959	ENSG00000188959			31455	protein-coding gene	gene with protein product							Standard	NM_001012993		Approved	bA470J20.2	uc011lwk.2	Q5JTZ5	OTTHUMG00000020478	ENST00000400613.4:c.364G>C	9.37:g.112963584C>G	ENSP00000383456:p.Glu122Gln						p.E122Q	NM_001012993	NP_001013011	Q5JTZ5	CI152_HUMAN			2	918	-			122					A8MWT6	Missense_Mutation	SNP	ENST00000400613.4	37	c.364G>C	CCDS35102.2	.	.	.	.	.	.	.	.	.	.	C	7.592	0.671053	0.14776	.	.	ENSG00000188959	ENST00000400613	.	.	.	4.53	1.51	0.23008	.	0.357359	0.23624	N	0.046210	T	0.27866	0.0686	L	0.32530	0.975	0.28746	N	0.901703	B	0.30709	0.291	B	0.29598	0.104	T	0.13629	-1.0502	9	0.36615	T	0.2	-9.88	8.4041	0.32603	0.0:0.385:0.5254:0.0896	.	122	Q5JTZ5	CI152_HUMAN	Q	122	.	ENSP00000383456:E122Q	E	-	1	0	C9orf152	112003405	0.272000	0.24172	0.557000	0.28306	0.053000	0.15095	0.428000	0.21395	0.336000	0.23639	0.655000	0.94253	GAG		0.587	C9orf152-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053602.2		NM_001012993		48	47	0	0	0	1	0	48	47		
C9orf84	158401	broad.mit.edu	37	9	114510461	114510461	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr9:114510461C>T	ENST00000318737.4	-	7	817	c.689G>A	c.(688-690)gGa>gAa	p.G230E	C9orf84_ENST00000394779.3_Missense_Mutation_p.G191E|C9orf84_ENST00000394777.4_Missense_Mutation_p.G191E|C9orf84_ENST00000374283.5_Missense_Mutation_p.G294E|C9orf84_ENST00000374287.3_Missense_Mutation_p.G230E	NM_173521.3	NP_775792.3	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	230										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						ATCCTCAATTCCATGCTTGTT	0.353																																						uc004bfr.2		NaN																	0				ovary(2)	2						c.(688-690)GGA>GAA		hypothetical protein LOC158401 isoform 1							118.0	116.0	117.0					9																	114510461		2203	4300	6503	SO:0001583	missense	158401							g.chr9:114510461C>T	AL833535	CCDS6781.3, CCDS43863.1	9q32	2012-03-16			ENSG00000165181	ENSG00000165181			26535	protein-coding gene	gene with protein product							Standard	XM_005251738		Approved	FLJ32779	uc004bfr.3	Q5VXU9	OTTHUMG00000020495	ENST00000318737.4:c.689G>A	9.37:g.114510461C>T	ENSP00000322108:p.Gly230Glu					C9orf84_uc011lwt.1_RNA|C9orf84_uc004bfs.1_Missense_Mutation_p.G294E|C9orf84_uc004bfq.2_Missense_Mutation_p.G191E|C9orf84_uc010mug.2_Missense_Mutation_p.G176E	p.G230E	NM_173521	NP_775792	Q5VXU9	CI084_HUMAN			7	824	-			230					A2A2V3|Q2M1H8|Q96M73	Missense_Mutation	SNP	ENST00000318737.4	37	c.689G>A	CCDS6781.3	.	.	.	.	.	.	.	.	.	.	C	2.863	-0.235724	0.05944	.	.	ENSG00000165181	ENST00000394779;ENST00000394777;ENST00000374287;ENST00000318737;ENST00000374283	T;T;T;T;T	0.51325	0.71;0.71;0.71;0.71;0.71	4.05	-0.635	0.11512	.	0.754728	0.11382	N	0.569673	T	0.27524	0.0676	N	0.20986	0.625	0.09310	N	1	B;B;B;B	0.23806	0.077;0.077;0.091;0.091	B;B;B;B	0.24541	0.025;0.045;0.054;0.027	T	0.18840	-1.0324	10	0.27785	T	0.31	-0.9276	4.4241	0.11495	0.0:0.3684:0.3707:0.2609	.	191;294;230;191	A6PVK7;Q5VXU9-2;Q5VXU9;A2A2V3	.;.;CI084_HUMAN;.	E	191;191;230;230;294	ENSP00000378259:G191E;ENSP00000378257:G191E;ENSP00000363405:G230E;ENSP00000322108:G230E;ENSP00000363401:G294E	ENSP00000322108:G230E	G	-	2	0	C9orf84	113550282	0.000000	0.05858	0.001000	0.08648	0.120000	0.20174	-0.543000	0.06084	-0.108000	0.12066	-0.185000	0.12909	GGA		0.353	C9orf84-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053656.2		NM_173521		19	36	0	0	0	1	0	19	36		
ODF2	4957	broad.mit.edu	37	9	131256844	131256844	+	Missense_Mutation	SNP	T	T	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr9:131256844T>A	ENST00000434106.3	+	17	2171	c.1808T>A	c.(1807-1809)cTg>cAg	p.L603Q	ODF2_ENST00000372791.3_Missense_Mutation_p.L584Q|ODF2_ENST00000444119.2_Missense_Mutation_p.L579Q|ODF2_ENST00000393533.2_Missense_Mutation_p.L603Q|ODF2_ENST00000393527.3_Missense_Mutation_p.L579Q|ODF2_ENST00000351030.3_Missense_Mutation_p.L598Q|ODF2_ENST00000448249.3_Missense_Mutation_p.L522Q|ODF2_ENST00000604420.1_Missense_Mutation_p.L603Q|ODF2_ENST00000372807.5_Missense_Mutation_p.L598Q|ODF2_ENST00000546203.1_Missense_Mutation_p.L584Q|ODF2_ENST00000372814.3_Missense_Mutation_p.L647Q	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	603					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|regulation of cilium assembly (GO:1902017)|spermatid development (GO:0007286)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)|primary cilium (GO:0072372)	Rab GTPase binding (GO:0017137)|structural molecule activity (GO:0005198)	p.L579P(1)|p.L603P(1)|p.L647P(1)		autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						CCTGACATCCTGAAGATCACG	0.562																																						uc011mbd.1		NaN																	3	Substitution - Missense(3)		endometrium(3)	ovary(1)	1						c.(1807-1809)CTG>CAG		outer dense fiber of sperm tails 2 isoform 1							65.0	57.0	60.0					9																	131256844		2203	4300	6503	SO:0001583	missense	4957				cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity	g.chr9:131256844T>A	AF012549	CCDS6902.1, CCDS56585.1, CCDS56586.1, CCDS56587.1, CCDS56588.1, CCDS56589.1, CCDS56590.1	9q34	2010-04-23	2002-10-21		ENSG00000136811	ENSG00000136811			8114	protein-coding gene	gene with protein product	"""cancer/testis antigen 134"""	602015	"""outer dense fibre of sperm tails 2"""			9045620, 10072582	Standard	NM_153435		Approved	ODF84, CT134	uc004bvc.3	Q5BJF6	OTTHUMG00000020748	ENST00000434106.3:c.1808T>A	9.37:g.131256844T>A	ENSP00000403453:p.Leu603Gln					ODF2_uc011maz.1_Missense_Mutation_p.L603Q|ODF2_uc011mbc.1_Missense_Mutation_p.L522Q|ODF2_uc004bva.2_Missense_Mutation_p.L556Q|ODF2_uc004bvb.2_Missense_Mutation_p.L579Q|ODF2_uc011mbe.1_Missense_Mutation_p.L598Q|ODF2_uc004bvc.2_Missense_Mutation_p.L579Q|ODF2_uc011mbf.1_Missense_Mutation_p.L584Q|ODF2_uc004bvd.3_Missense_Mutation_p.L603Q|ODF2_uc004bve.2_Missense_Mutation_p.L584Q|ODF2_uc004bvh.2_5'Flank	p.L603Q	NM_002540	NP_002531	Q5BJF6	ODFP2_HUMAN			17	2119	+			603			Potential.		B1AND3|B4DRK4|B4DX73|B4DZ02|E7EWL2|F5H6J4|O14721|O60631|Q1W2J6|Q6UN26|Q7Z5I6|Q96FN2	Missense_Mutation	SNP	ENST00000434106.3	37	c.1808T>A	CCDS56588.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.433061	0.83776	.	.	ENSG00000136811	ENST00000393533;ENST00000372814;ENST00000351030;ENST00000372796;ENST00000303890;ENST00000448249;ENST00000546203;ENST00000372791	T;D;D;D;D;D;T;T	0.83992	0.49;-1.65;-1.79;-1.79;-1.79;-1.65;0.6;0.61	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	D	0.90041	0.6890	M	0.73217	2.22	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	0.87578	0.995;0.995;0.995;0.997;0.995;0.998;0.995	D	0.90571	0.4522	10	0.54805	T	0.06	-11.5259	14.6101	0.68510	0.0:0.0:0.0:1.0	.	584;598;522;603;584;603;579	Q5BJF6-8;Q5BJF6-4;Q5BJF6-9;B4DX73;Q5BJF6-5;Q5BJF6;Q5BJF6-3	.;.;.;.;.;ODFP2_HUMAN;.	Q	603;647;598;603;579;522;584;584	ENSP00000377166:L603Q;ENSP00000361901:L647Q;ENSP00000342581:L598Q;ENSP00000361882:L603Q;ENSP00000307781:L579Q;ENSP00000396687:L522Q;ENSP00000437579:L584Q;ENSP00000361877:L584Q	ENSP00000307781:L579Q	L	+	2	0	ODF2	130296665	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.449000	0.73473	2.047000	0.60756	0.459000	0.35465	CTG		0.562	ODF2-011	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054449.3				10	21	0	0	0	1	0	10	21		
SPTAN1	6709	broad.mit.edu	37	9	131341958	131341958	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr9:131341958G>A	ENST00000372731.4	+	10	1374	c.1264G>A	c.(1264-1266)Gaa>Aaa	p.E422K	SPTAN1_ENST00000358161.5_Missense_Mutation_p.E422K|SPTAN1_ENST00000372739.3_Missense_Mutation_p.E422K	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	422					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						ATCTGCAGATGAATCTGGACA	0.428																																					NSCLC(120;833 1744 2558 35612 37579)	uc004bvl.3		NaN																	0				breast(5)|ovary(4)|pancreas(1)	10						c.(1264-1266)GAA>AAA		spectrin, alpha, non-erythrocytic 1							100.0	92.0	95.0					9																	131341958		2203	4300	6503	SO:0001583	missense	6709				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton	g.chr9:131341958G>A	M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.1264G>A	9.37:g.131341958G>A	ENSP00000361816:p.Glu422Lys					SPTAN1_uc011mbg.1_Missense_Mutation_p.E422K|SPTAN1_uc011mbh.1_Missense_Mutation_p.E434K|SPTAN1_uc004bvm.3_Missense_Mutation_p.E422K|SPTAN1_uc004bvn.3_Missense_Mutation_p.E422K	p.E422K	NM_003127	NP_003118	Q13813	SPTA2_HUMAN			10	1377	+			422			Spectrin 5.		Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	ENST00000372731.4	37	c.1264G>A	CCDS6905.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.324136	0.81580	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	T;T;T	0.54071	0.59;0.59;0.59	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.51193	0.1660	L	0.51914	1.62	0.58432	D	0.999999	B;B;B;B;B	0.29955	0.024;0.071;0.083;0.001;0.263	B;B;B;B;B	0.31290	0.037;0.038;0.127;0.008;0.102	T	0.51849	-0.8653	10	0.48119	T	0.1	.	17.7441	0.88415	0.0:0.0:1.0:0.0	.	422;422;422;422;422	A6NG51;B4DTV8;Q13813-3;Q13813-2;Q13813	.;.;.;.;SPTA2_HUMAN	K	422	ENSP00000350882:E422K;ENSP00000361816:E422K;ENSP00000361824:E422K	ENSP00000350882:E422K	E	+	1	0	SPTAN1	130381779	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	9.393000	0.97256	2.434000	0.82447	0.655000	0.94253	GAA		0.428	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1		NM_003127		34	2	0	0	0	1	0	34	2		
FCN1	2219	broad.mit.edu	37	9	137803022	137803022	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr9:137803022C>G	ENST00000371806.3	-	8	781	c.690G>C	c.(688-690)gaG>gaC	p.E230D		NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN	ficolin (collagen/fibrinogen domain containing) 1	230	B domain; contributes to trimerization.|Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell surface pattern recognition receptor signaling pathway (GO:0002752)|complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|opsonization (GO:0008228)|positive regulation of interleukin-8 secretion (GO:2000484)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extrinsic component of external side of plasma membrane (GO:0031232)	antigen binding (GO:0003823)|calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|G-protein coupled receptor binding (GO:0001664)|signaling pattern recognition receptor activity (GO:0008329)			endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		GCTTGTACTTCTCTGCCTCGT	0.562																																						uc004cfi.2		NaN																	0				large_intestine(1)|ovary(1)	2						c.(688-690)GAG>GAC		ficolin 1 precursor							256.0	243.0	247.0					9																	137803022		2203	4300	6503	SO:0001583	missense	2219				opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding	g.chr9:137803022C>G	D83920	CCDS6985.1	9q34	2013-02-06	2002-01-14		ENSG00000085265	ENSG00000085265		"""Fibrinogen C domain containing"""	3623	protein-coding gene	gene with protein product		601252	"""ficolin (collagen/fibrinogen domain-containing) 1"""			8573080, 8884275	Standard	NM_002003		Approved	FCNM	uc004cfi.3	O00602	OTTHUMG00000020895	ENST00000371806.3:c.690G>C	9.37:g.137803022C>G	ENSP00000360871:p.Glu230Asp						p.E230D	NM_002003	NP_001994	O00602	FCN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)	8	782	-		Myeloproliferative disorder(178;0.0333)	230			Fibrinogen C-terminal.		Q5VYV5|Q92596	Missense_Mutation	SNP	ENST00000371806.3	37	c.690G>C	CCDS6985.1	.	.	.	.	.	.	.	.	.	.	C	0.057	-1.233099	0.01505	.	.	ENSG00000085265	ENST00000371806	T	0.20463	2.07	3.29	-0.953	0.10362	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	.	.	.	.	T	0.10294	0.0252	N	0.20574	0.59	0.27632	N	0.948017	B	0.02656	0.0	B	0.09377	0.004	T	0.39440	-0.9614	9	0.15952	T	0.53	.	5.4619	0.16622	0.0:0.4495:0.3408:0.2097	.	230	O00602	FCN1_HUMAN	D	230	ENSP00000360871:E230D	ENSP00000360871:E230D	E	-	3	2	FCN1	136942843	0.838000	0.29461	0.378000	0.26068	0.003000	0.03518	-0.169000	0.09911	-0.074000	0.12820	-1.221000	0.01599	GAG		0.562	FCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054963.1		NM_002003		72	173	0	0	0	1	0	72	173		
PPP1R26	9858	broad.mit.edu	37	9	138378236	138378236	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr9:138378236G>A	ENST00000356818.2	+	4	2429	c.1880G>A	c.(1879-1881)aGa>aAa	p.R627K	PPP1R26_ENST00000605286.1_Missense_Mutation_p.R627K|PPP1R26_ENST00000401470.3_Missense_Mutation_p.R627K|PPP1R26_ENST00000605660.1_Missense_Mutation_p.R627K|PPP1R26_ENST00000604351.1_Missense_Mutation_p.R627K|PPP1R26_ENST00000602993.1_Intron	NM_014811.3	NP_055626.3	Q5T8A7	PPR26_HUMAN	protein phosphatase 1, regulatory subunit 26	627					negative regulation of phosphatase activity (GO:0010923)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										AGCCAGGGGAGAGCTGAGCCC	0.662																																						uc004cfr.1		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(1879-1881)AGA>AAA		1A6/DRIM (down-regulated in metastasis)							28.0	32.0	31.0					9																	138378236		2203	4298	6501	SO:0001583	missense	9858					nucleolus	protein binding	g.chr9:138378236G>A	AB014549	CCDS6988.1	9q34.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000196422	ENSG00000196422		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29089	protein-coding gene	gene with protein product	"""DRIM/UTP20 interacting protein"", ""1A6/DRIM (down-regulated in metastasis) interacting protein"""	614056	"""KIAA0649"""	KIAA0649		9734811, 16053918	Standard	NM_014811		Approved		uc004cfr.1	Q5T8A7	OTTHUMG00000020904	ENST00000356818.2:c.1880G>A	9.37:g.138378236G>A	ENSP00000349274:p.Arg627Lys						p.R627K	NM_014811	NP_055626	Q5T8A7	K0649_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.91e-08)|Epithelial(140;4.69e-07)|all cancers(34;9.33e-06)	4	2429	+			627					Q86WU0|Q8WVV0|Q9Y4D3	Missense_Mutation	SNP	ENST00000356818.2	37	c.1880G>A	CCDS6988.1	.	.	.	.	.	.	.	.	.	.	G	2.271	-0.366981	0.05069	.	.	ENSG00000196422	ENST00000356818	T	0.21031	2.03	4.74	-9.39	0.00619	.	1.447310	0.04163	N	0.323349	T	0.04998	0.0134	N	0.02539	-0.55	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.20638	-1.0269	10	0.02654	T	1	0.0484	4.2847	0.10850	0.5917:0.2052:0.1144:0.0886	.	627	Q5T8A7	PPR26_HUMAN	K	627	ENSP00000349274:R627K	ENSP00000349274:R627K	R	+	2	0	KIAA0649	137518057	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-0.335000	0.07873	-2.070000	0.00881	-0.311000	0.09066	AGA		0.662	PPP1R26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054987.1		NM_014811		4	41	0	0	0	1	0	4	41		
SNAPC4	6621	broad.mit.edu	37	9	139273711	139273711	+	Missense_Mutation	SNP	C	C	G	rs376046931		TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr9:139273711C>G	ENST00000298532.2	-	21	2936	c.2568G>C	c.(2566-2568)aaG>aaC	p.K856N		NM_003086.2	NP_003077.2			small nuclear RNA activating complex, polypeptide 4, 190kDa											biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		GGCTGGCACTCTTTGAGGCTT	0.662																																						uc004chh.2		NaN																	0					0						c.(2566-2568)AAG>AAC		small nuclear RNA activating complex,							14.0	20.0	18.0					9																	139273711		2129	4232	6361	SO:0001583	missense	6621				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr9:139273711C>G	AF032387	CCDS6998.1	9q34.3	2008-07-21	2002-08-29		ENSG00000165684	ENSG00000165684			11137	protein-coding gene	gene with protein product		602777	"""small nuclear RNA activating complex, polypeptide 4, 190kD"""			9418884	Standard	XM_005266096		Approved	SNAP190, PTFalpha, FLJ13451	uc004chh.3	Q5SXM2	OTTHUMG00000020929	ENST00000298532.2:c.2568G>C	9.37:g.139273711C>G	ENSP00000298532:p.Lys856Asn						p.K856N	NM_003086	NP_003077	Q5SXM2	SNPC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)	21	2577	-		Myeloproliferative disorder(178;0.0511)	856						Missense_Mutation	SNP	ENST00000298532.2	37	c.2568G>C	CCDS6998.1	.	.	.	.	.	.	.	.	.	.	C	14.99	2.700030	0.48307	.	.	ENSG00000165684	ENST00000298532	T	0.26223	1.75	3.83	1.76	0.24704	.	7739.210000	0.00166	N	0.000000	T	0.39655	0.1086	L	0.54323	1.7	0.09310	N	1	D	0.63880	0.993	P	0.55545	0.778	T	0.10064	-1.0646	10	0.72032	D	0.01	-10.919	5.2302	0.15418	0.201:0.6859:0.0:0.1131	.	856	Q5SXM2	SNPC4_HUMAN	N	856	ENSP00000298532:K856N	ENSP00000298532:K856N	K	-	3	2	SNAPC4	138393532	0.000000	0.05858	0.001000	0.08648	0.036000	0.12997	-0.148000	0.10219	0.727000	0.32360	0.561000	0.74099	AAG		0.662	SNAPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055071.1		NM_003086		14	4	0	0	0	1	0	14	4		
NOTCH1	4851	broad.mit.edu	37	9	139405623	139405623	+	Silent	SNP	G	G	C	rs369379272		TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr9:139405623G>C	ENST00000277541.6	-	16	2643	c.2568C>G	c.(2566-2568)gtC>gtG	p.V856V		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	856	EGF-like 22. {ECO:0000255|PROSITE- ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CCGTGGGGCAGACACAGGAGA	0.677			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												uc004chz.2		NaN		Dom	yes		9	9q34.3	4851	T|Mis|O	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856						c.(2566-2568)GTC>GTG		notch1 preproprotein							48.0	56.0	53.0					9																	139405623		2032	4178	6210	SO:0001819	synonymous_variant	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139405623G>C	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.2568C>G	9.37:g.139405623G>C		HNSCC(8;0.001)				NOTCH1_uc004cia.1_Silent_p.V86V	p.V856V	NM_017617	NP_060087	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	16	2568	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	856			Extracellular (Potential).|EGF-like 22.		Q59ED8|Q5SXM3	Silent	SNP	ENST00000277541.6	37	c.2568C>G	CCDS43905.1																																																																																				0.677	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1		NM_017617		17	69	0	0	0	1	0	17	69		
NELFB	25920	broad.mit.edu	37	9	140166654	140166654	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr9:140166654C>T	ENST00000343053.4	+	11	1804	c.1467C>T	c.(1465-1467)ttC>ttT	p.F489F		NM_015456.3	NP_056271.2	Q8WX92	NELFB_HUMAN	negative elongation factor complex member B	489					gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|NELF complex (GO:0032021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											TCGATGGCTTCTTCCTCACCG	0.617																																						uc004cmm.3		NaN																	0					0						c.(1465-1467)TTC>TTT		cofactor of BRCA1							94.0	84.0	87.0					9																	140166654		2203	4300	6503	SO:0001819	synonymous_variant	25920				negative regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleoplasm	protein binding	g.chr9:140166654C>T	AF464935	CCDS7040.1	9q34	2013-01-31	2013-01-31	2013-01-31	ENSG00000188986	ENSG00000188986			24324	protein-coding gene	gene with protein product		611180	"""cofactor of BRCA1"""	COBRA1		11230166, 10574461, 17910036, 17659869	Standard	NM_015456		Approved	KIAA1182, NELF-B	uc004cmm.4	Q8WX92	OTTHUMG00000131778	ENST00000343053.4:c.1467C>T	9.37:g.140166654C>T							p.F489F	NM_015456	NP_056271	Q8WX92	NELFB_HUMAN	STAD - Stomach adenocarcinoma(284;0.137)	OV - Ovarian serous cystadenocarcinoma(145;9.42e-05)|Epithelial(140;0.000766)	11	1670	+	all_cancers(76;0.0926)		489					A2BFA3|Q96EW5|Q9H9R4|Q9ULN8|Q9Y3W0	Silent	SNP	ENST00000343053.4	37	c.1467C>T	CCDS7040.1																																																																																				0.617	NELFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254710.1		NM_015456		58	26	0	0	0	1	0	58	26		
EHMT1	79813	broad.mit.edu	37	9	140657159	140657159	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr9:140657159G>C	ENST00000460843.1	+	10	1561	c.1534G>C	c.(1534-1536)Gac>Cac	p.D512H	EHMT1_ENST00000334856.6_Missense_Mutation_p.D481H|EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000462484.1_Missense_Mutation_p.D512H	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	512					chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|embryo development (GO:0009790)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|methyltransferase activity (GO:0008168)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		GCTGGAGACAGACGGCCTCCA	0.537																																						uc011mfc.1		NaN																	0				breast(2)|pancreas(1)	3						c.(1534-1536)GAC>CAC		euchromatic histone-lysine N-methyltransferase 1							111.0	88.0	96.0					9																	140657159		2203	4300	6503	SO:0001583	missense	79813				DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	g.chr9:140657159G>C	AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	24650	protein-coding gene	gene with protein product		607001	"""euchromatic histone methyltransferase 1"""			11347906, 12004135	Standard	NM_024757		Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000460843.1:c.1534G>C	9.37:g.140657159G>C	ENSP00000417980:p.Asp512His					EHMT1_uc004coa.2_Missense_Mutation_p.D512H|EHMT1_uc004cob.1_Missense_Mutation_p.D481H|FLJ40292_uc010nco.2_5'Flank	p.D512H	NM_024757	NP_079033	Q9H9B1	EHMT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)	10	1571	+	all_cancers(76;0.164)		512					B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Missense_Mutation	SNP	ENST00000460843.1	37	c.1534G>C	CCDS7050.2	.	.	.	.	.	.	.	.	.	.	G	18.86	3.713444	0.68730	.	.	ENSG00000181090	ENST00000334856;ENST00000371400;ENST00000462484;ENST00000460843	T;T;T	0.72835	1.36;0.59;-0.69	5.26	5.26	0.73747	.	0.174016	0.56097	D	0.000032	D	0.83963	0.5368	M	0.69823	2.125	0.58432	D	0.999992	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.984;1.0;1.0	D	0.85723	0.1326	10	0.87932	D	0	.	18.4451	0.90681	0.0:0.0:1.0:0.0	.	512;481;512	Q9H9B1;Q9H9B1-2;Q9H9B1-4	EHMT1_HUMAN;.;.	H	481;481;512;512	ENSP00000334476:D481H;ENSP00000417328:D512H;ENSP00000417980:D512H	ENSP00000334476:D481H	D	+	1	0	EHMT1	139776980	1.000000	0.71417	0.605000	0.28930	0.606000	0.37113	6.979000	0.76154	2.468000	0.83385	0.655000	0.94253	GAC		0.537	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055371.2		NM_024757		6	31	0	0	0	1	0	6	31		
MXRA5	25878	broad.mit.edu	37	X	3229461	3229461	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chrX:3229461C>T	ENST00000217939.6	-	7	6937	c.6783G>A	c.(6781-6783)ctG>ctA	p.L2261L		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2261	Ig-like C2-type 7.					extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				AGTCCACTTTCAGGTCACCCC	0.557																																						uc004crg.3		NaN																	0				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8						c.(6781-6783)CTG>CTA		adlican precursor							67.0	63.0	64.0					X																	3229461		2203	4300	6503	SO:0001819	synonymous_variant	25878					extracellular region		g.chrX:3229461C>T	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.6783G>A	X.37:g.3229461C>T							p.L2261L	NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN			7	6940	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	2261			Ig-like C2-type 7.		Q6P1M7|Q9Y3Y8	Silent	SNP	ENST00000217939.6	37	c.6783G>A	CCDS14124.1																																																																																				0.557	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2		NM_015419		35	35	0	0	0	1	0	35	35		
ARHGAP6	395	broad.mit.edu	37	X	11197423	11197423	+	Splice_Site	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chrX:11197423G>A	ENST00000337414.4	-	7	2351	c.1479C>T	c.(1477-1479)ctC>ctT	p.L493L	ARHGAP6_ENST00000491514.1_5'UTR|ARHGAP6_ENST00000534860.1_Splice_Site_p.L318L|ARHGAP6_ENST00000380736.1_Splice_Site_p.L290L|ARHGAP6_ENST00000380732.3_Splice_Site_p.L525L|ARHGAP6_ENST00000303025.6_Splice_Site_p.L290L|ARHGAP6_ENST00000413512.3_Splice_Site_p.L302L|ARHGAP6_ENST00000380718.1_Splice_Site_p.L493L	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	493	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				actin filament polymerization (GO:0030041)|activation of phospholipase C activity (GO:0007202)|focal adhesion assembly (GO:0048041)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of signal transduction (GO:0009967)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						ATTACGCACAGAGAGTGTTGA	0.453																																						uc004cup.1		NaN																	0				urinary_tract(1)|lung(1)	2						c.(1477-1479)CTC>CTT		Rho GTPase activating protein 6 isoform 1							148.0	123.0	131.0					X																	11197423		2203	4300	6503	SO:0001630	splice_region_variant	395				actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity	g.chrX:11197423G>A	AF012272	CCDS14140.1, CCDS14141.1, CCDS14142.1	Xp22.3	2008-02-05			ENSG00000047648	ENSG00000047648		"""Rho GTPase activating proteins"""	676	protein-coding gene	gene with protein product		300118				9417914	Standard	XM_005274507		Approved	rhoGAPX-1	uc004cup.1	O43182	OTTHUMG00000021134	ENST00000337414.4:c.1480+1C>T	X.37:g.11197423G>A						ARHGAP6_uc004cuo.1_RNA|ARHGAP6_uc004cur.1_Silent_p.L493L|ARHGAP6_uc004cum.1_Silent_p.L290L|ARHGAP6_uc004cun.1_Silent_p.L313L|ARHGAP6_uc010neb.1_Silent_p.L315L|ARHGAP6_uc011mif.1_Silent_p.L290L	p.L493L	NM_013427	NP_038286	O43182	RHG06_HUMAN			7	2352	-			493			Rho-GAP.		B2RWQ0|O43437|Q9P1B3|Q9UK81|Q9UK82	Silent	SNP	ENST00000337414.4	37	c.1479C>T	CCDS14140.1																																																																																				0.453	ARHGAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055760.2		NM_013427	Silent	54	4	0	0	0	1	0	54	4		
DDX3X	1654	broad.mit.edu	37	X	41203072	41203072	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chrX:41203072G>A	ENST00000399959.2	+	8	1617	c.762G>A	c.(760-762)atG>atA	p.M254I	DDX3X_ENST00000457138.2_Missense_Mutation_p.M238I|DDX3X_ENST00000542215.1_Intron|RN7SL15P_ENST00000582825.1_RNA|DDX3X_ENST00000478993.1_3'UTR|DDX3X_ENST00000441189.2_Intron	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	254	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.|Interaction with GSK3B.|Involved in stimulation of ATPase activity by DNA and RNA, nucleic acid binding and unwinding and HIV-1 replication.				ATP catabolic process (GO:0006200)|cellular response to arsenic-containing substance (GO:0071243)|cellular response to osmotic stress (GO:0071470)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|mature ribosome assembly (GO:0042256)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell growth (GO:0030307)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of translation (GO:0045727)|positive regulation of translational initiation (GO:0045948)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|stress granule assembly (GO:0034063)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 5'-UTR binding (GO:0048027)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)|transcription factor binding (GO:0008134)|translation initiation factor binding (GO:0031369)			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						TGAGGGCCATGAAGGTAGATG	0.398										HNSCC(61;0.18)																												uc004dfe.2		NaN																	0				ovary(2)|breast(2)|central_nervous_system(1)|skin(1)	6						c.(760-762)ATG>ATA		DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3							74.0	64.0	67.0					X																	41203072		1906	4130	6036	SO:0001583	missense	1654				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding	g.chrX:41203072G>A	U50553	CCDS43931.1, CCDS55404.1	Xp11.3-p11.23	2013-07-16	2013-07-16	2003-06-20	ENSG00000215301	ENSG00000215301		"""DEAD-boxes"""	2745	protein-coding gene	gene with protein product		300160	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked"""	DDX3		9381176, 9730595	Standard	NM_001193416		Approved	DBX, HLP2, DDX14	uc004dfe.3	O00571	OTTHUMG00000021369	ENST00000399959.2:c.762G>A	X.37:g.41203072G>A	ENSP00000382840:p.Met254Ile	HNSCC(61;0.18)				DDX3X_uc010nhf.1_Missense_Mutation_p.M238I|DDX3X_uc004dff.2_Missense_Mutation_p.M254I|DDX3X_uc011mkq.1_Missense_Mutation_p.M238I|DDX3X_uc011mkr.1_Missense_Mutation_p.M254I|DDX3X_uc011mks.1_Intron|DDX3X_uc004dfg.2_RNA|DDX3X_uc011mkt.1_Intron	p.M254I	NM_001356	NP_001347	O00571	DDX3X_HUMAN			8	1617	+			254			Helicase ATP-binding.		A8K538|B4E3E8|O15536	Missense_Mutation	SNP	ENST00000399959.2	37	c.762G>A	CCDS43931.1	.	.	.	.	.	.	.	.	.	.	G	12.26	1.883941	0.33255	.	.	ENSG00000215301	ENST00000399959;ENST00000457138	T;T	0.19394	2.16;2.15	5.42	5.42	0.78866	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.220602	0.56097	D	0.000027	T	0.11324	0.0276	N	0.11000	0.08	0.80722	D	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.0;0.0;0.001;0.0;0.0	T	0.20042	-1.0287	10	0.19590	T	0.45	-9.5652	12.0211	0.53344	0.0811:0.0:0.9189:0.0	.	254;238;254;266;254	B4DLU5;B4E3E8;B5BTY4;Q59GX6;O00571	.;.;.;.;DDX3X_HUMAN	I	254;238	ENSP00000382840:M254I;ENSP00000392494:M238I	ENSP00000382840:M254I	M	+	3	0	DDX3X	41088016	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.246000	0.51414	2.411000	0.81874	0.600000	0.82982	ATG		0.398	DDX3X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056253.1		NM_024005		20	20	0	0	0	1	0	20	20		
WDR45	11152	broad.mit.edu	37	X	48932868	48932868	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chrX:48932868G>A	ENST00000376372.3	-	10	1081	c.900C>T	c.(898-900)ttC>ttT	p.F300F	PRAF2_ENST00000376386.3_5'Flank|WDR45_ENST00000473974.1_Intron|WDR45_ENST00000396681.4_Silent_p.F286F|PRAF2_ENST00000376390.4_5'Flank|WDR45_ENST00000485908.1_Silent_p.F265F|WDR45_ENST00000356463.3_Silent_p.F301F|AF196779.12_ENST00000376358.3_Intron|WDR45_ENST00000322995.8_Silent_p.F311F|WDR45_ENST00000376368.2_Silent_p.F301F|PRAF2_ENST00000491199.1_5'Flank|WDR45_ENST00000553851.1_Intron|WDR45_ENST00000465431.1_5'Flank	NM_001029896.1	NP_001025067.1	Q9Y484	WIPI4_HUMAN	WD repeat domain 45	300				FTV -> YTA (in Ref. 1; AAV80764). {ECO:0000305}.	autophagy (GO:0006914)|cell death (GO:0008219)					NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	19						CAGGCACAGTGAAGCTCGCCA	0.597																																						uc004dmk.1		NaN																	0				ovary(1)	1						c.(898-900)TTC>TTT		WD repeat domain 45 isoform 2							55.0	47.0	50.0					X																	48932868		2203	4300	6503	SO:0001819	synonymous_variant	11152				autophagy|response to starvation	organelle membrane	phosphatidylinositol-3,5-bisphosphate binding	g.chrX:48932868G>A	BC003037	CCDS14318.1, CCDS35250.1	Xp11.23	2013-06-06	2004-09-02	2004-09-03	ENSG00000196998	ENSG00000196998		"""WD repeat domain containing"""	28912	protein-coding gene	gene with protein product	"""neurodegeneration with brain iron accumulation 5"""	300526	"""WD repeat domain, X-linked 1"""	WDRX1		12477932	Standard	NM_007075		Approved	JM5, WIPI4, NBIA5	uc004dmk.1	Q9Y484	OTTHUMG00000034500	ENST00000376372.3:c.900C>T	X.37:g.48932868G>A						PRAF2_uc004dmh.2_5'Flank|PRAF2_uc004dmi.2_5'Flank|PRAF2_uc011mmt.1_Intron|WDR45_uc004dmj.1_Silent_p.F261F|WDR45_uc004dml.1_Silent_p.F301F|WDR45_uc004dmm.1_Silent_p.F265F|WDR45_uc010nim.1_Intron|WDR45_uc004dmn.1_Silent_p.F191F|WDR45_uc004dmo.1_Silent_p.F323F|WDR45_uc004dmp.1_Silent_p.F301F	p.F300F	NM_001029896	NP_001025067	Q9Y484	WIPI4_HUMAN			10	1072	-			300	FTV -> YTA (in Ref. 1; AAV80764).				A6NGH5|B7WPI2|Q5MNZ5|Q6IBS7|Q6NT94|Q96H03	Silent	SNP	ENST00000376372.3	37	c.900C>T	CCDS35250.1	.	.	.	.	.	.	.	.	.	.	G	9.333	1.060939	0.19987	.	.	ENSG00000196998	ENST00000486337;ENST00000367375	.	.	.	3.43	-1.0	0.10196	.	.	.	.	.	T	0.54111	0.1838	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45920	-0.9228	4	.	.	.	-13.5892	8.4988	0.33146	0.5708:0.0:0.4292:0.0	.	.	.	.	Y	25;227	.	.	H	-	1	0	WDR45	48819812	1.000000	0.71417	0.985000	0.45067	0.995000	0.86356	2.506000	0.45433	-0.364000	0.08088	0.409000	0.27619	CAC		0.597	WDR45-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083418.2		NM_007075		6	12	0	0	0	1	0	6	12		
CCDC22	28952	broad.mit.edu	37	X	49106025	49106025	+	Missense_Mutation	SNP	A	A	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chrX:49106025A>T	ENST00000376227.3	+	15	1861	c.1691A>T	c.(1690-1692)cAc>cTc	p.H564L		NM_014008.3	NP_054727.1	O60826	CCD22_HUMAN	coiled-coil domain containing 22	564										NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	18						GCTGCTCTGCACGAGGTGAGG	0.597																																						uc004dnd.1		NaN																	0				central_nervous_system(1)	1						c.(1690-1692)CAC>CTC		coiled-coil domain containing 22							106.0	79.0	88.0					X																	49106025		2203	4300	6503	SO:0001583	missense	28952							g.chrX:49106025A>T	BC000972	CCDS14322.1	Xp11.23	2008-02-05	2005-07-24	2005-07-24	ENSG00000101997	ENSG00000101997			28909	protein-coding gene	gene with protein product		300859	"""chromosome X open reading frame 37"""	CXorf37		12477932	Standard	NM_014008		Approved	JM1	uc004dnd.2	O60826	OTTHUMG00000024141	ENST00000376227.3:c.1691A>T	X.37:g.49106025A>T	ENSP00000365401:p.His564Leu					CCDC22_uc004dnc.1_RNA	p.H564L	NM_014008	NP_054727	O60826	CCD22_HUMAN			15	1847	+			564					A8K7G1	Missense_Mutation	SNP	ENST00000376227.3	37	c.1691A>T	CCDS14322.1	.	.	.	.	.	.	.	.	.	.	A	19.22	3.786160	0.70337	.	.	ENSG00000101997	ENST00000376227;ENST00000538876	.	.	.	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.80003	0.4544	M	0.82823	2.61	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.83029	-0.0163	9	0.72032	D	0.01	-17.744	13.302	0.60330	1.0:0.0:0.0:0.0	.	564	O60826	CCD22_HUMAN	L	564	.	ENSP00000365401:H564L	H	+	2	0	CCDC22	48992969	1.000000	0.71417	1.000000	0.80357	0.505000	0.33919	8.255000	0.89846	1.783000	0.52377	0.350000	0.21858	CAC		0.597	CCDC22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060822.1		NM_014008		10	11	0	0	0	1	0	10	11		
CCNB3	85417	broad.mit.edu	37	X	50053381	50053381	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chrX:50053381G>A	ENST00000376042.1	+	6	2510	c.2212G>A	c.(2212-2214)Gag>Aag	p.E738K	CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.E738K			Q8WWL7	CCNB3_HUMAN	cyclin B3	738					meiotic nuclear division (GO:0007126)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)	nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					GCTTTCTGCTGAGGCAGCCAC	0.428																																						uc004dox.3		NaN																	0				ovary(4)|lung(3)|large_intestine(1)|pancreas(1)	9						c.(2212-2214)GAG>AAG		cyclin B3 isoform 3							27.0	27.0	27.0					X																	50053381		2203	4298	6501	SO:0001583	missense	85417				cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding	g.chrX:50053381G>A	AJ314764	CCDS14331.1, CCDS14332.1	Xp11	2008-07-03			ENSG00000147082	ENSG00000147082			18709	protein-coding gene	gene with protein product		300456				11846420, 12185076	Standard	XM_006724610		Approved		uc004doy.3	Q8WWL7	OTTHUMG00000021519	ENST00000376042.1:c.2212G>A	X.37:g.50053381G>A	ENSP00000365210:p.Glu738Lys					CCNB3_uc004doy.2_Missense_Mutation_p.E738K|CCNB3_uc004doz.2_Intron|CCNB3_uc010njq.2_Intron	p.E738K	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN			6	2510	+	Ovarian(276;0.236)		738					B1AQI5|B1AQI6|Q96SB5|Q96SB6|Q96SB7|Q9NT38	Missense_Mutation	SNP	ENST00000376042.1	37	c.2212G>A	CCDS14331.1	.	.	.	.	.	.	.	.	.	.	G	9.078	0.998550	0.19121	.	.	ENSG00000147082	ENST00000376042;ENST00000276014	T;T	0.34859	1.34;1.34	3.87	2.1	0.27182	.	.	.	.	.	T	0.20251	0.0487	N	0.20986	0.625	0.09310	N	1	B	0.28900	0.227	B	0.24848	0.056	T	0.19484	-1.0304	8	.	.	.	.	5.5306	0.16983	0.2583:0.0:0.7417:0.0	.	738	Q8WWL7	CCNB3_HUMAN	K	738	ENSP00000365210:E738K;ENSP00000276014:E738K	.	E	+	1	0	CCNB3	50070121	0.037000	0.19845	0.029000	0.17559	0.078000	0.17371	0.683000	0.25349	0.452000	0.26830	0.600000	0.82982	GAG		0.428	CCNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056558.1				29	1	0	0	0	1	0	29	1		
SHROOM4	57477	broad.mit.edu	37	X	50377284	50377284	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chrX:50377284G>A	ENST00000289292.7	-	4	2072	c.1789C>T	c.(1789-1791)Cag>Tag	p.Q597*	SHROOM4_ENST00000376020.2_Nonsense_Mutation_p.Q597*|SHROOM4_ENST00000460112.3_Nonsense_Mutation_p.Q481*			Q9ULL8	SHRM4_HUMAN	shroom family member 4	597					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					TTCCTCCTCTGAATTTCATTA	0.582																																						uc004dpe.2		NaN																	0				upper_aerodigestive_tract(1)	1						c.(1789-1791)CAG>TAG		shroom family member 4							42.0	43.0	42.0					X																	50377284		2203	4300	6503	SO:0001587	stop_gained	57477				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	g.chrX:50377284G>A	AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.1789C>T	X.37:g.50377284G>A	ENSP00000289292:p.Gln597*					SHROOM4_uc004dpd.3_RNA|SHROOM4_uc004dpf.1_Nonsense_Mutation_p.Q481*	p.Q597*	NM_020717	NP_065768	Q9ULL8	SHRM4_HUMAN			4	1815	-	Ovarian(276;0.236)		597					A7E2X9|D6RFW0|Q96LA0	Nonsense_Mutation	SNP	ENST00000289292.7	37	c.1789C>T	CCDS35277.1	.	.	.	.	.	.	.	.	.	.	G	39	7.676600	0.98428	.	.	ENSG00000158352	ENST00000289292;ENST00000376020;ENST00000460112	.	.	.	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	18.1431	0.89647	0.0:0.0:1.0:0.0	.	.	.	.	X	597;597;481	.	ENSP00000289292:Q597X	Q	-	1	0	SHROOM4	50394024	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.148000	0.94652	2.562000	0.86427	0.600000	0.82982	CAG		0.582	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4		NM_020717		27	1	0	0	0	1	0	27	1		
SHROOM4	57477	broad.mit.edu	37	X	50377642	50377642	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chrX:50377642G>A	ENST00000289292.7	-	4	1714	c.1431C>T	c.(1429-1431)acC>acT	p.T477T	SHROOM4_ENST00000376020.2_Silent_p.T477T|SHROOM4_ENST00000460112.3_Silent_p.T361T			Q9ULL8	SHRM4_HUMAN	shroom family member 4	477					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					CCACTTGTCTGGTCTTTCTTT	0.527																																						uc004dpe.2		NaN																	0				upper_aerodigestive_tract(1)	1						c.(1429-1431)ACC>ACT		shroom family member 4							125.0	108.0	113.0					X																	50377642		2203	4300	6503	SO:0001819	synonymous_variant	57477				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	g.chrX:50377642G>A	AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.1431C>T	X.37:g.50377642G>A						SHROOM4_uc004dpd.3_RNA|SHROOM4_uc004dpf.1_Silent_p.T361T	p.T477T	NM_020717	NP_065768	Q9ULL8	SHRM4_HUMAN			4	1457	-	Ovarian(276;0.236)		477					A7E2X9|D6RFW0|Q96LA0	Silent	SNP	ENST00000289292.7	37	c.1431C>T	CCDS35277.1																																																																																				0.527	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4		NM_020717		73	7	0	0	0	1	0	73	7		
HUWE1	10075	broad.mit.edu	37	X	53575134	53575134	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chrX:53575134G>A	ENST00000342160.3	-	67	10593	c.10136C>T	c.(10135-10137)tCc>tTc	p.S3379F	HUWE1_ENST00000474288.1_5'Flank|HUWE1_ENST00000262854.6_Missense_Mutation_p.S3379F			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3379					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						ACTGCTGGAGGACTGTGAGGA	0.507																																						uc004dsp.2		NaN																	0				ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						c.(10135-10137)TCC>TTC		HECT, UBA and WWE domain containing 1							69.0	46.0	54.0					X																	53575134		2203	4300	6503	SO:0001583	missense	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53575134G>A	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.10136C>T	X.37:g.53575134G>A	ENSP00000340648:p.Ser3379Phe					HUWE1_uc004dsn.2_Missense_Mutation_p.S2187F	p.S3379F	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN			68	10538	-			3379					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.10136C>T	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	G	10.73	1.433037	0.25813	.	.	ENSG00000086758	ENST00000342160;ENST00000262854	T;T	0.39592	1.07;1.07	5.75	5.75	0.90469	.	1.941980	0.02178	N	0.060221	T	0.47229	0.1434	L	0.42245	1.32	0.38231	D	0.94103	B;B	0.32467	0.119;0.372	B;B	0.30646	0.055;0.118	T	0.32268	-0.9913	10	0.72032	D	0.01	.	17.639	0.88130	0.0:0.0:1.0:0.0	.	3379;3363	Q7Z6Z7;Q7Z6Z7-2	HUWE1_HUMAN;.	F	3379	ENSP00000340648:S3379F;ENSP00000262854:S3379F	ENSP00000262854:S3379F	S	-	2	0	HUWE1	53591859	1.000000	0.71417	0.980000	0.43619	0.747000	0.42532	2.485000	0.45250	2.437000	0.82529	0.529000	0.55759	TCC		0.507	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1		XM_497119		5	3	0	0	0	1	0	5	3		
MAGEE1	57692	broad.mit.edu	37	X	75649791	75649791	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chrX:75649791C>A	ENST00000361470.2	+	1	1746	c.1468C>A	c.(1468-1470)Cct>Act	p.P490T		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	490						dendrite (GO:0030425)|dystrophin-associated glycoprotein complex (GO:0016010)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						GCCCCAAGACCCTATGGAACA	0.483																																						uc004ecm.1		NaN																	0				breast(3)|ovary(1)|pancreas(1)|skin(1)	6						c.(1468-1470)CCT>ACT		melanoma antigen family E, 1							59.0	55.0	56.0					X																	75649791		2203	4300	6503	SO:0001583	missense	57692					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane		g.chrX:75649791C>A	AF490507	CCDS14433.1	Xq13	2008-02-05			ENSG00000198934	ENSG00000198934			24934	protein-coding gene	gene with protein product		300759				14623885	Standard	NM_020932		Approved	KIAA1587, DAMAGE	uc004ecm.2	Q9HCI5	OTTHUMG00000021879	ENST00000361470.2:c.1468C>A	X.37:g.75649791C>A	ENSP00000354912:p.Pro490Thr						p.P490T	NM_020932	NP_065983	Q9HCI5	MAGE1_HUMAN			1	1675	+			490					Q5JXC7|Q86TG0|Q8TD92|Q9H216	Missense_Mutation	SNP	ENST00000361470.2	37	c.1468C>A	CCDS14433.1	.	.	.	.	.	.	.	.	.	.	C	12.23	1.876568	0.33162	.	.	ENSG00000198934	ENST00000361470	T	0.03152	4.03	2.04	2.04	0.26737	.	.	.	.	.	T	0.06690	0.0171	N	0.19112	0.55	0.26154	N	0.980094	D	0.63046	0.992	D	0.70487	0.969	T	0.41179	-0.9523	9	0.37606	T	0.19	.	6.7563	0.23516	0.0:1.0:0.0:0.0	.	490	Q9HCI5	MAGE1_HUMAN	T	490	ENSP00000354912:P490T	ENSP00000354912:P490T	P	+	1	0	MAGEE1	75566195	0.950000	0.32346	0.977000	0.42913	0.697000	0.40408	2.518000	0.45537	1.272000	0.44329	0.538000	0.68166	CCT		0.483	MAGEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057298.1		NM_020932		9	26	1	0	2.17888e-05	1	2.24966e-05	9	26		
RPS6KA6	27330	broad.mit.edu	37	X	83375020	83375020	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chrX:83375020T>C	ENST00000262752.2	-	9	669	c.662A>G	c.(661-663)aAg>aGg	p.K221R	RPS6KA6_ENST00000543399.1_Missense_Mutation_p.K221R	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	221	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|central nervous system development (GO:0007417)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|negative regulation of embryonic development (GO:0045992)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of mesoderm development (GO:2000381)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						TACTGACTCCTTGCTGAGTCC	0.343																																						uc004eej.1		NaN																	0				lung(5)|stomach(1)|central_nervous_system(1)|skin(1)	8						c.(661-663)AAG>AGG		ribosomal protein S6 kinase polypeptide 6							82.0	71.0	75.0					X																	83375020		2203	4300	6503	SO:0001583	missense	27330				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chrX:83375020T>C	AF184965	CCDS14451.1	Xq21.1	2011-04-05	2002-08-29		ENSG00000072133	ENSG00000072133			10435	protein-coding gene	gene with protein product		300303	"""ribosomal protein S6 kinase, 90kD, polypeptide 6"""			10644430	Standard	NM_014496		Approved	RSK4	uc004eej.2	Q9UK32	OTTHUMG00000021923	ENST00000262752.2:c.662A>G	X.37:g.83375020T>C	ENSP00000262752:p.Lys221Arg					RPS6KA6_uc011mqt.1_Missense_Mutation_p.K221R|RPS6KA6_uc011mqu.1_Missense_Mutation_p.K118R|RPS6KA6_uc010nmo.1_RNA	p.K221R	NM_014496	NP_055311	Q9UK32	KS6A6_HUMAN			9	739	-			221			Protein kinase 1.		B2R854|B7ZL90|Q6FHX2|Q8WX28|Q9H4S6	Missense_Mutation	SNP	ENST00000262752.2	37	c.662A>G	CCDS14451.1	.	.	.	.	.	.	.	.	.	.	T	24.8	4.575105	0.86542	.	.	ENSG00000072133	ENST00000262752;ENST00000543399	T;T	0.23552	1.9;1.9	5.42	5.42	0.78866	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.37679	0.1012	L	0.35249	1.045	0.80722	D	1	D;D	0.71674	0.998;0.998	P;P	0.62014	0.897;0.897	T	0.21008	-1.0258	10	0.87932	D	0	.	14.4766	0.67551	0.0:0.0:0.0:1.0	.	221;221	B7ZL90;Q9UK32	.;KS6A6_HUMAN	R	221	ENSP00000262752:K221R;ENSP00000440830:K221R	ENSP00000262752:K221R	K	-	2	0	RPS6KA6	83261676	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.859000	0.86982	1.798000	0.52647	0.486000	0.48141	AAG		0.343	RPS6KA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057372.1		NM_014496		50	10	0	0	0	1	0	50	10		
MID2	11043	broad.mit.edu	37	X	107084381	107084381	+	Nonsense_Mutation	SNP	T	T	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chrX:107084381T>A	ENST00000262843.6	+	2	1034	c.486T>A	c.(484-486)tgT>tgA	p.C162*	MID2_ENST00000443968.2_Nonsense_Mutation_p.C162*	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	162					innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein localization to microtubule (GO:0035372)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	ligase activity (GO:0016874)|microtubule binding (GO:0008017)|phosphoprotein binding (GO:0051219)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						TCTCCTACTGTGACCGTTGCC	0.572																																						uc004enl.2		NaN																	0				ovary(1)	1						c.(484-486)TGT>TGA		midline 2 isoform 1							56.0	48.0	51.0					X																	107084381		2203	4300	6503	SO:0001587	stop_gained	11043					centrosome|microtubule	ligase activity|zinc ion binding	g.chrX:107084381T>A		CCDS14532.2, CCDS14533.2	Xq22.1-q22.2	2013-02-11			ENSG00000080561	ENSG00000080561		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	7096	protein-coding gene	gene with protein product		300204				10400986	Standard	NM_012216		Approved	FXY2, TRIM1, RNF60	uc004enl.3	Q9UJV3	OTTHUMG00000022171	ENST00000262843.6:c.486T>A	X.37:g.107084381T>A	ENSP00000262843:p.Cys162*					MID2_uc004enk.2_Nonsense_Mutation_p.C162*	p.C162*	NM_012216	NP_036348	Q9UJV3	TRIM1_HUMAN			2	1059	+			162			B box-type 1; degenerate.		A6NEL8|A6PVI5|Q5JYF5|Q8WWK1|Q9UJR9	Nonsense_Mutation	SNP	ENST00000262843.6	37	c.486T>A	CCDS14532.2	.	.	.	.	.	.	.	.	.	.	T	22.8	4.334330	0.81801	.	.	ENSG00000080561	ENST00000451923;ENST00000262843;ENST00000443968	.	.	.	5.94	4.78	0.61160	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.4753	0.33009	0.0:0.0907:0.0:0.9093	.	.	.	.	X	142;162;162	.	ENSP00000262843:C162X	C	+	3	2	MID2	106971037	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.884000	0.28214	2.001000	0.58596	0.486000	0.48141	TGT		0.572	MID2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057852.2		NM_012216		7	23	0	0	0	1	0	7	23		
AMOT	154796	broad.mit.edu	37	X	112033888	112033888	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chrX:112033888C>T	ENST00000524145.1	-	8	2123	c.2049G>A	c.(2047-2049)caG>caA	p.Q683Q	AMOT_ENST00000371959.3_Silent_p.Q683Q|AMOT_ENST00000371962.1_Silent_p.Q451Q|AMOT_ENST00000304758.1_Silent_p.Q274Q|AMOT_ENST00000371958.1_Silent_p.Q451Q			Q4VCS5	AMOT_HUMAN	angiomotin	683					actin cytoskeleton organization (GO:0030036)|blood vessel endothelial cell migration (GO:0043534)|cell migration involved in gastrulation (GO:0042074)|cell-cell junction assembly (GO:0007043)|cellular protein localization (GO:0034613)|chemotaxis (GO:0006935)|establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|gastrulation with mouth forming second (GO:0001702)|hippo signaling (GO:0035329)|in utero embryonic development (GO:0001701)|negative regulation of angiogenesis (GO:0016525)|negative regulation of GTPase activity (GO:0034260)|negative regulation of vascular permeability (GO:0043116)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell size (GO:0045793)|positive regulation of embryonic development (GO:0040019)|positive regulation of stress fiber assembly (GO:0051496)|regulation of cell migration (GO:0030334)|regulation of small GTPase mediated signal transduction (GO:0051056)|vasculogenesis (GO:0001570)	actin filament (GO:0005884)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|ruffle (GO:0001726)|stress fiber (GO:0001725)|tight junction (GO:0005923)	angiostatin binding (GO:0043532)|receptor activity (GO:0004872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						CCAAATATTTCTGCTCCCACT	0.493																																						uc004epr.2		NaN																	0				ovary(1)	1						c.(2047-2049)CAG>CAA		angiomotin isoform 1							224.0	202.0	210.0					X																	112033888		2203	4300	6503	SO:0001819	synonymous_variant	154796				actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction|tight junction	angiostatin binding|protein binding|receptor activity	g.chrX:112033888C>T	AB028994	CCDS14563.1, CCDS48154.1	Xq23	2006-02-08			ENSG00000126016	ENSG00000126016			17810	protein-coding gene	gene with protein product		300410				11257124, 16043488, 12406577	Standard	NM_001113490		Approved	KIAA1071	uc004epr.3	Q4VCS5	OTTHUMG00000022216	ENST00000524145.1:c.2049G>A	X.37:g.112033888C>T						AMOT_uc004eps.2_Silent_p.Q274Q	p.Q683Q	NM_001113490	NP_001106962	Q4VCS5	AMOT_HUMAN			7	2049	-			683			Potential.		Q504X5|Q9HD27|Q9UPT1	Silent	SNP	ENST00000524145.1	37	c.2049G>A	CCDS48154.1																																																																																				0.493	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378570.1		NM_133265		34	103	0	0	0	1	0	34	103		
TENM1	10178	broad.mit.edu	37	X	123518337	123518337	+	Silent	SNP	T	T	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chrX:123518337T>A	ENST00000371130.3	-	29	6486	c.6423A>T	c.(6421-6423)ggA>ggT	p.G2141G	TENM1_ENST00000422452.2_Silent_p.G2148G|STAG2_ENST00000469481.1_Intron	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	2141					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										TGGCATCTACTCCTACCCTTA	0.398																																						uc004euj.2		NaN																	0				ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						c.(6421-6423)GGA>GGT		odz, odd Oz/ten-m homolog 1 isoform 3							203.0	173.0	183.0					X																	123518337		2203	4300	6503	SO:0001819	synonymous_variant	10178				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding	g.chrX:123518337T>A	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.6423A>T	X.37:g.123518337T>A						ODZ1_uc011muj.1_Silent_p.G2147G|ODZ1_uc010nqy.2_Silent_p.G2148G	p.G2141G	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN			29	6487	-			2141			Extracellular (Potential).		B2RTR5|Q5JZ17	Silent	SNP	ENST00000371130.3	37	c.6423A>T	CCDS14609.1																																																																																				0.398	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1		NM_014253		38	153	0	0	0	1	0	38	153		
TENM1	10178	broad.mit.edu	37	X	123680941	123680941	+	Splice_Site	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chrX:123680941C>G	ENST00000371130.3	-	15	2498		c.e15-1		TENM1_ENST00000422452.2_Splice_Site	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1						immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										GTTAAACCATCTGGAAATAAA	0.348																																						uc004euj.2		NaN																	0				ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						c.e15-1		odz, odd Oz/ten-m homolog 1 isoform 3							77.0	68.0	71.0					X																	123680941		2203	4300	6503	SO:0001630	splice_region_variant	10178				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding	g.chrX:123680941C>G	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.2435-1G>C	X.37:g.123680941C>G						ODZ1_uc011muj.1_Splice_Site_p.D811_splice|ODZ1_uc010nqy.2_Splice_Site_p.D812_splice	p.D812_splice	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN			15	2499	-								B2RTR5|Q5JZ17	Splice_Site	SNP	ENST00000371130.3	37	c.2435_splice	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	C	14.87	2.665225	0.47677	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	.	.	.	5.33	5.33	0.75918	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0423	0.89322	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ODZ1	123508622	1.000000	0.71417	1.000000	0.80357	0.344000	0.29017	7.320000	0.79064	2.452000	0.82932	0.600000	0.82982	.		0.348	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1		NM_014253	Intron	37	3	0	0	0	1	0	37	3		
BCORL1	63035	broad.mit.edu	37	X	129149535	129149535	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chrX:129149535G>A	ENST00000218147.7	+	4	2984	c.2787G>A	c.(2785-2787)caG>caA	p.Q929Q	BCORL1_ENST00000359304.2_Silent_p.Q929Q|BCORL1_ENST00000303743.5_Silent_p.Q929Q|BCORL1_ENST00000540052.1_Silent_p.Q929Q			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	929					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						TCAGCCCTCAGACTGGGACCC	0.537																																						uc004evb.1		NaN																	0				ovary(4)|breast(2)|lung(1)	7						c.(2785-2787)CAG>CAA		BCL6 co-repressor-like 1							77.0	63.0	68.0					X																	129149535		2203	4300	6503	SO:0001819	synonymous_variant	63035				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chrX:129149535G>A	AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.2787G>A	X.37:g.129149535G>A						BCORL1_uc010nrd.1_Silent_p.Q831Q	p.Q929Q	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN			4	2901	+			929					B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Silent	SNP	ENST00000218147.7	37	c.2787G>A	CCDS14616.1	.	.	.	.	.	.	.	.	.	.	G	2.235	-0.375266	0.05034	.	.	ENSG00000085185	ENST00000441294	.	.	.	5.31	2.57	0.30868	.	.	.	.	.	T	0.55545	0.1927	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47018	-0.9149	4	.	.	.	-13.6725	7.4764	0.27378	0.2927:0.0:0.7073:0.0	.	.	.	.	N	365	.	.	D	+	1	0	BCORL1	128977216	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	0.609000	0.24238	0.460000	0.27045	-0.295000	0.09555	GAC		0.537	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1		NM_021946		13	34	0	0	0	1	0	13	34		
GPR119	139760	broad.mit.edu	37	X	129519381	129519381	+	Missense_Mutation	SNP	A	A	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chrX:129519381A>C	ENST00000276218.2	-	1	130	c.41T>G	c.(40-42)cTg>cGg	p.L14R		NM_178471.2	NP_848566.1	Q8TDV5	GP119_HUMAN	G protein-coupled receptor 119	14					insulin secretion (GO:0030073)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)|phosphatidylcholine binding (GO:0031210)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(1)	11						GAGGGAGGCCAGGACAGCAAG	0.483																																						uc011muv.1		NaN																	0				ovary(2)	2						c.(40-42)CTG>CGG		G protein-coupled receptor 119							258.0	237.0	244.0					X																	129519381		2203	4300	6503	SO:0001583	missense	139760					integral to membrane|plasma membrane	lipid binding	g.chrX:129519381A>C	AY288416	CCDS14625.1	Xq26.1	2014-01-30			ENSG00000147262	ENSG00000147262		"""GPCR / Class A : Orphans"""	19060	protein-coding gene	gene with protein product		300513				12044878, 14623098	Standard	NM_178471		Approved	hGPCR2, GPCR2	uc011muv.2	Q8TDV5	OTTHUMG00000022397	ENST00000276218.2:c.41T>G	X.37:g.129519381A>C	ENSP00000276218:p.Leu14Arg						p.L14R	NM_178471	NP_848566	Q8TDV5	GP119_HUMAN			1	41	-			14			Helical; Name=1; (Potential).		Q495H7|Q4VBN3	Missense_Mutation	SNP	ENST00000276218.2	37	c.41T>G	CCDS14625.1	.	.	.	.	.	.	.	.	.	.	A	15.27	2.784856	0.49997	.	.	ENSG00000147262	ENST00000276218	T	0.42131	0.98	5.16	5.16	0.70880	.	0.246858	0.35151	N	0.003416	T	0.50120	0.1597	L	0.29908	0.895	0.40170	D	0.977162	D	0.76494	0.999	D	0.66196	0.942	T	0.55711	-0.8098	10	0.87932	D	0	-4.0548	12.9764	0.58540	1.0:0.0:0.0:0.0	.	14	Q8TDV5	GP119_HUMAN	R	14	ENSP00000276218:L14R	ENSP00000276218:L14R	L	-	2	0	GPR119	129347062	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.069000	0.64370	1.910000	0.55303	0.417000	0.27973	CTG		0.483	GPR119-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058270.1		NM_178471		68	136	0	0	0	1	0	68	136		
DKC1	1736	broad.mit.edu	37	X	153995277	153995277	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chrX:153995277G>C	ENST00000369550.5	+	6	664	c.454G>C	c.(454-456)Gag>Cag	p.E152Q	SNORA36A_ENST00000384221.1_RNA	NM_001142463.1|NM_001363.3	NP_001135935.1|NP_001354.1	O60832	DKC1_HUMAN	dyskeratosis congenita 1, dyskerin	152					cell proliferation (GO:0008283)|pseudouridine synthesis (GO:0001522)|RNA processing (GO:0006396)|rRNA processing (GO:0006364)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)|telomerase activity (GO:0003720)			breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TTCAGGCAAAGAGTATGTGGG	0.463									Congenital Dyskeratosis																													uc004fmm.2		NaN																	0					0						c.(454-456)GAG>CAG		dyskerin isoform 1							109.0	102.0	104.0					X																	153995277		2203	4300	6503	SO:0001583	missense	1736	Congenital_Dyskeratosis	Familial Cancer Database	Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	cell proliferation|pseudouridine synthesis|rRNA processing|telomere maintenance via telomerase	Cajal body|nucleolus|telomerase holoenzyme complex	protein binding|pseudouridine synthase activity|RNA binding|telomerase activity	g.chrX:153995277G>C	AJ224481	CCDS14761.1, CCDS76062.1	Xq28	2014-09-17			ENSG00000130826	ENSG00000130826			2890	protein-coding gene	gene with protein product		300126		DKC		9590285, 9888995	Standard	NM_001142463		Approved	XAP101, dyskerin, NAP57, NOLA4	uc004fmm.3	O60832	OTTHUMG00000024242	ENST00000369550.5:c.454G>C	X.37:g.153995277G>C	ENSP00000358563:p.Glu152Gln					DKC1_uc010nvf.2_Missense_Mutation_p.E152Q|SNORA36A_uc004fmn.2_5'Flank	p.E152Q	NM_001363	NP_001354	O60832	DKC1_HUMAN			6	664	+	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		152					F5BSB3|O43845|Q96G67|Q9Y505	Missense_Mutation	SNP	ENST00000369550.5	37	c.454G>C	CCDS14761.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.7|23.7	4.444838|4.444838	0.83993|0.83993	.|.	.|.	ENSG00000130826|ENSG00000130826	ENST00000369550;ENST00000413910|ENST00000437719	T;T|.	0.53423|.	0.62;0.62|.	5.26|5.26	5.26|5.26	0.73747|0.73747	Pseudouridine synthase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.83995|0.83995	0.5375|0.5375	M|M	0.90542|0.90542	3.125|3.125	0.80722|0.80722	D|D	1|1	D;D|.	0.53462|.	0.96;0.96|.	P;P|.	0.52343|.	0.601;0.696|.	D|D	0.87449|0.87449	0.2400|0.2400	10|5	0.72032|.	D|.	0.01|.	-41.277|-41.277	16.4043|16.4043	0.83652|0.83652	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	152;152|.	A8MUT5;O60832|.	.;DKC1_HUMAN|.	Q|T	152|137	ENSP00000358563:E152Q;ENSP00000400542:E152Q|.	ENSP00000358563:E152Q|.	E|R	+|+	1|2	0|0	DKC1|DKC1	153648471|153648471	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	9.309000|9.309000	0.96252|0.96252	2.178000|2.178000	0.69098|0.69098	0.422000|0.422000	0.28245|0.28245	GAG|AGA		0.463	DKC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061180.5		NM_001363		10	49	0	0	0	1	0	10	49		
MUC5B	727897	broad.mit.edu	37	11	1278842	1278866	+	Frame_Shift_Del	DEL	GTGACGCCCAGGGTCAGCCCCCGCC	GTGACGCCCAGGGTCAGCCCCCGCC	-			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:1278842_1278866delGTGACGCCCAGGGTCAGCCCCCGCC	ENST00000529681.1	+	41	16410_16434	c.16352_16376delGTGACGCCCAGGGTCAGCCCCCGCC	c.(16351-16377)tgtgacgcccagggtcagcccccgccgfs	p.CDAQGQPPP5451fs	MUC5B_ENST00000447027.1_Frame_Shift_Del_p.CDAQGQPPP5454fs	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	5451	VWFC 2. {ECO:0000255|PROSITE- ProRule:PRU00220}.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCCCTGCCCTGTGACGCCCAGGGTCAGCCCCCGCCGTGCAACCGT	0.684																																						uc009ycr.1		NaN																	0					0						c.(17362-17388)TGTGACGCCCAGGGTCAGCCCCCGCCGfs		SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;																																				SO:0001589	frameshift_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1278842_1278866delGTGACGCCCAGGGTCAGCCCCCGCC	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.16352_16376delGTGACGCCCAGGGTCAGCCCCCGCC	11.37:g.1278842_1278866delGTGACGCCCAGGGTCAGCCCCCGCC	ENSP00000436812:p.Cys5451fs					MUC5B_uc001ltb.2_Frame_Shift_Del_p.C5454fs	p.C5788fs	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	63	17489_17513	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	5451_5459			VWFC 2.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Frame_Shift_Del	DEL	ENST00000529681.1	37	c.17363_17387delGTGACGCCCAGGGTCAGCCCCCGCC	CCDS44515.2																																																																																				0.684	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2		XM_001126093		7	9	NaN	NaN	NaN	NaN	NaN	7	9	---	---
AKAP6	9472	broad.mit.edu	37	14	33004894	33004908	+	In_Frame_Del	DEL	GCTTCGAGTCTCAGT	GCTTCGAGTCTCAGT	-			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr14:33004894_33004908delGCTTCGAGTCTCAGT	ENST00000280979.4	+	3	629_643	c.459_473delGCTTCGAGTCTCAGT	c.(457-474)cagcttcgagtctcagtg>cag	p.LRVSV154del	AKAP6_ENST00000557272.1_In_Frame_Del_p.LRVSV154del|AKAP6_ENST00000557354.1_In_Frame_Del_p.LRVSV154del	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	154					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		TCTGGCACCAGCTTCGAGTCTCAGTGCTGGTTCTG	0.521																																					Melanoma(49;821 1200 7288 13647 42351)	uc001wrq.2		NaN																	0				breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21						c.(457-474)CAGCTTCGAGTCTCAGTG>CAG		A-kinase anchor protein 6																																				SO:0001651	inframe_deletion	9472				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	g.chr14:33004894_33004908delGCTTCGAGTCTCAGT	AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.459_473delGCTTCGAGTCTCAGT	14.37:g.33004894_33004908delGCTTCGAGTCTCAGT	ENSP00000280979:p.Leu154_Val158del					AKAP6_uc010aml.2_In_Frame_Del_p.LRVSV151del	p.LRVSV154del	NM_004274	NP_004265	Q13023	AKAP6_HUMAN	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)	3	629_643	+	Breast(36;0.0388)|Prostate(35;0.15)		154_158					A7E242|A7E2D4|O15028	In_Frame_Del	DEL	ENST00000280979.4	37	c.459_473delGCTTCGAGTCTCAGT	CCDS9644.1																																																																																				0.521	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2		NM_004274		18	40	NaN	NaN	NaN	NaN	NaN	18	40	---	---
DMXL2	23312	broad.mit.edu	37	15	51778370	51778370	+	Frame_Shift_Del	DEL	A	A	-			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr15:51778370delA	ENST00000251076.5	-	23	5669	c.5382delT	c.(5380-5382)gatfs	p.D1794fs	RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000543779.2_Frame_Shift_Del_p.D1794fs|DMXL2_ENST00000449909.3_Frame_Shift_Del_p.D1158fs	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1794						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		GCAGGAAAGGATCAGGATGTA	0.408																																						uc002abf.2		NaN																	0				ovary(6)|skin(3)	9						c.(5380-5382)GATfs		Dmx-like 2							119.0	112.0	114.0					15																	51778370		2196	4293	6489	SO:0001589	frameshift_variant	23312					cell junction|synaptic vesicle membrane	Rab GTPase binding	g.chr15:51778370delA	AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.5382delT	15.37:g.51778370delA	ENSP00000251076:p.Asp1794fs					DMXL2_uc010ufy.1_Frame_Shift_Del_p.D1794fs|DMXL2_uc010bfa.2_Frame_Shift_Del_p.D1158fs	p.D1794fs	NM_015263	NP_056078	Q8TDJ6	DMXL2_HUMAN		all cancers(107;0.00494)	23	5607	-			1794					B2RTR3|B7ZMH3|F5GWF1|O94938	Frame_Shift_Del	DEL	ENST00000251076.5	37	c.5382delT	CCDS10141.1																																																																																				0.408	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2		NM_015263		25	38	NaN	NaN	NaN	NaN	NaN	25	38	---	---
CDRT1	374286	broad.mit.edu	37	17	15501958	15501975	+	Splice_Site	DEL	ATCCCAGTATCTGCAGGA	ATCCCAGTATCTGCAGGA	-	rs552298363		TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:15501958_15501975delATCCCAGTATCTGCAGGA	ENST00000395906.3	-	8	1433_1442	c.1434_1443delTCCTGCAGATACTGGGAT	c.(1432-1443)agtcctgcagat>ag	p.SPAD478del	CDRT1_ENST00000583965.1_5'Flank|RP11-385D13.1_ENST00000455584.2_Splice_Site_p.SPAD788del|CDRT1_ENST00000354433.3_5'UTR	NM_006382.3	NP_006373.2	O95170	CDRT1_HUMAN	CMT1A duplicated region transcript 1	478										endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(2;1.36e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0541)		CACTTTTCAGATCCCAGTATCTGCAGGAATCAGGCCAA	0.472																																						uc002gor.1		NaN																	0				ovary(2)|skin(1)	3						c.e14-1		SubName: Full=Putative uncharacterized protein; Flags: Fragment;																																				SO:0001630	splice_region_variant	10626				histone H3 acetylation|histone H4 acetylation|positive regulation of interleukin-1 beta secretion|positive regulation of keratinocyte differentiation|positive regulation of retinoic acid receptor signaling pathway|positive regulation of transcription, DNA-dependent|response to growth hormone stimulus|response to organophosphorus|response to retinoic acid	cytoplasm|plasma membrane|PML body	DNA binding|interleukin-1 binding|NACHT domain binding|zinc ion binding	g.chr17:15501958_15501975delATCCCAGTATCTGCAGGA	U65652	CCDS45619.1, CCDS73996.1	17p11	2013-01-10			ENSG00000241322	ENSG00000241322		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	14379	protein-coding gene	gene with protein product		604596	"""F-box and WD repeat domain containing 10 pseudogene 1"", ""F-box and WD-40 domain protein 10 pseudogene 1"""	FBXW10P1		9787083, 11381029	Standard	NM_006382		Approved	HREP, SM25H2, FBXW10B		O95170	OTTHUMG00000059074	ENST00000395906.3:c.1434-1TCCTGCAGATACTGGGAT>-	17.37:g.15501958_15501975delATCCCAGTATCTGCAGGA						CDRT1_uc010vvy.1_5'UTR|CDRT1_uc010vvz.1_5'UTR|CDRT1_uc002gov.3_Splice_Site_p.R478_splice|CDRT1_uc002gou.2_Splice_Site_p.R86_splice|CDRT1_uc010cos.1_5'UTR	p.R788_splice			O95361	TRI16_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0839)|Epithelial(1;8.4e-29)|all cancers(1;3.06e-28)|Colorectal(1;1.57e-19)|OV - Ovarian serous cystadenocarcinoma(1;6.1e-17)|COAD - Colon adenocarcinoma(1;3.38e-12)|READ - Rectum adenocarcinoma(2;1.46e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0559)	14	2701	-								O43848|O95611	Splice_Site	DEL	ENST00000395906.3	37	c.2364_splice	CCDS45619.1																																																																																				0.472	CDRT1-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448127.1		NM_006382	In_Frame_Del	7	13	NaN	NaN	NaN	NaN	NaN	7	13	---	---
NF1	4763	broad.mit.edu	37	17	29592283	29592283	+	Frame_Shift_Del	DEL	G	G	-			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08			G	-	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:29592283delG	ENST00000358273.4	+	36	5144	c.4761delG	c.(4759-4761)ttgfs	p.L1587fs	NF1_ENST00000356175.3_Frame_Shift_Del_p.L1566fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1587	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.|Lipid binding.				actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TCAAGGCTTTGAAAACGTTAA	0.343			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												uc002hgg.2		NaN	yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	D|Mis|N|F|S|O	neurofibromatosis type 1 gene			O		neurofibroma|glioma	neurofibroma|glioma		12	Whole gene deletion(8)|Unknown(4)	p.?(3)|p.L1587*(1)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)	soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330						c.(4759-4761)TTGfs		neurofibromin isoform 1							67.0	69.0	68.0					17																	29592283		2203	4297	6500	SO:0001589	frameshift_variant	4763	Neurofibromatosis_type_1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29592283delG		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.4761delG	17.37:g.29592283delG	ENSP00000351015:p.Leu1587fs	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hgh.2_Frame_Shift_Del_p.L1566fs|NF1_uc002hgi.1_Frame_Shift_Del_p.L599fs|NF1_uc010cso.2_5'UTR	p.L1587fs	NM_001042492	NP_001035957	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	36	5094	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	1587			CRAL-TRIO.		O00662|Q14284|Q14930|Q14931|Q9UMK3	Frame_Shift_Del	DEL	ENST00000358273.4	37	c.4761delG	CCDS42292.1																																																																																				0.343	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2		NM_000267		19	105	NaN	NaN	NaN	NaN	NaN	19	105	---	---
CDK12	51755	broad.mit.edu	37	17	37618605	37618605	+	Frame_Shift_Del	DEL	G	G	-			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:37618605delG	ENST00000447079.4	+	1	314	c.281delG	c.(280-282)aggfs	p.R94fs	CDK12_ENST00000430627.2_Frame_Shift_Del_p.R94fs	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	94					mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						CTAGACCGAAGGGAGAACGAC	0.522			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)																												uc010cvv.2		NaN		Rec	yes		17	17q12	51755		cyclin-dependent kinase 12			E					0				ovary(10)|lung(4)|breast(2)|skin(2)|large_intestine(1)	19						c.(280-282)AGGfs		Cdc2-related kinase, arginine/serine-rich							76.0	67.0	70.0					17																	37618605		2203	4300	6503	SO:0001589	frameshift_variant	51755				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr17:37618605delG	AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"""Cyclin-dependent kinases"""	24224	protein-coding gene	gene with protein product	"""CDC2 related protein kinase 7"""	615514	"""Cdc2-related kinase, arginine/serine-rich"""	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.281delG	17.37:g.37618605delG	ENSP00000398880:p.Arg94fs	TCGA Ovarian(9;0.13)				CDK12_uc010wef.1_Frame_Shift_Del_p.R94fs|CDK12_uc002hrw.3_Frame_Shift_Del_p.R94fs	p.R94fs	NM_016507	NP_057591	Q9NYV4	CDK12_HUMAN			1	867	+			94					A7E2B2|B4DYX4|B9EIQ6|O94978	Frame_Shift_Del	DEL	ENST00000447079.4	37	c.281delG	CCDS11337.1																																																																																				0.522	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4		NM_016507		10	53	NaN	NaN	NaN	NaN	NaN	10	53	---	---
CNP	1267	broad.mit.edu	37	17	40123969	40123969	+	Frame_Shift_Del	DEL	C	C	-			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:40123969delC	ENST00000393892.3	+	3	880	c.736delC	c.(736-738)cccfs	p.P247fs	CNP_ENST00000472031.1_Frame_Shift_Del_p.D21fs|CNP_ENST00000393888.1_Frame_Shift_Del_p.P227fs|CNP_ENST00000591072.1_Frame_Shift_Del_p.P12fs	NM_033133.4	NP_149124.3	P09543	CN37_HUMAN	2',3'-cyclic nucleotide 3' phosphodiesterase	247					adult locomotory behavior (GO:0008344)|aging (GO:0007568)|axonogenesis (GO:0007409)|cyclic nucleotide catabolic process (GO:0009214)|microtubule cytoskeleton organization (GO:0000226)|oligodendrocyte differentiation (GO:0048709)|regulation of mitochondrial membrane permeability (GO:0046902)|response to lipopolysaccharide (GO:0032496)|response to toxic substance (GO:0009636)|substantia nigra development (GO:0021762)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule (GO:0005874)|microvillus (GO:0005902)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|myelin sheath abaxonal region (GO:0035748)|myelin sheath adaxonal region (GO:0035749)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	2',3'-cyclic-nucleotide 3'-phosphodiesterase activity (GO:0004113)|cyclic nucleotide binding (GO:0030551)|RNA binding (GO:0003723)			breast(1)|kidney(2)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	9		all_cancers(22;2.38e-06)|all_epithelial(22;6.79e-05)|Breast(137;0.000143)		UCEC - Uterine corpus endometrioid carcinoma (308;0.171)		TGGAAAGAGACCCCCAGGCGT	0.592																																						uc002hyl.1		NaN																	0					0						c.(736-738)CCCfs		2',3'-cyclic nucleotide 3' phosphodiesterase							56.0	58.0	57.0					17																	40123969		1986	4151	6137	SO:0001589	frameshift_variant	1267				cell killing|cyclic nucleotide catabolic process|RNA metabolic process|synaptic transmission	extracellular space|melanosome	2',3'-cyclic-nucleotide 3'-phosphodiesterase activity|ATP binding|protein binding	g.chr17:40123969delC		CCDS11414.2	17q21	2008-02-05			ENSG00000173786	ENSG00000173786	3.1.4.37		2158	protein-coding gene	gene with protein product		123830				1322358	Standard	XM_006721701		Approved		uc002hyl.1	P09543	OTTHUMG00000133502	ENST00000393892.3:c.736delC	17.37:g.40123969delC	ENSP00000377470:p.Pro247fs					CNP_uc010wfz.1_Frame_Shift_Del_p.P123fs|CNP_uc002hym.1_Frame_Shift_Del_p.P226fs|CNP_uc010wga.1_Frame_Shift_Del_p.P11fs|CNP_uc002hyn.1_Frame_Shift_Del_p.P11fs	p.P246fs	NM_033133	NP_149124	P09543	CN37_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.171)	3	880	+		all_cancers(22;2.38e-06)|all_epithelial(22;6.79e-05)|Breast(137;0.000143)	246						Frame_Shift_Del	DEL	ENST00000393892.3	37	c.736delC	CCDS11414.2																																																																																				0.592	CNP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257443.2				16	36	NaN	NaN	NaN	NaN	NaN	16	36	---	---
CDH4	1002	broad.mit.edu	37	20	60485588	60485606	+	Frame_Shift_Del	DEL	CAGTGGGGATCCATCCGGG	CAGTGGGGATCCATCCGGG	-	rs35293044|rs372927032		TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr20:60485588_60485606delCAGTGGGGATCCATCCGGG	ENST00000360469.5	+	9	1387_1405	c.1299_1317delCAGTGGGGATCCATCCGGG	c.(1297-1317)atcagtggggatccatccgggfs	p.ISGDPSG433fs	CDH4_ENST00000543233.1_Frame_Shift_Del_p.ISGDPSG359fs	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	433	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			ACCGCATCATCAGTGGGGATCCATCCGGGCACTTCAGCG	0.603																																						uc002ybn.1		NaN																	0				lung(3)|ovary(2)|skin(1)	6						c.(1297-1317)ATCAGTGGGGATCCATCCGGGfs		cadherin 4, type 1 preproprotein																																				SO:0001589	frameshift_variant	1002				adherens junction organization|cell junction assembly		calcium ion binding	g.chr20:60485588_60485606delCAGTGGGGATCCATCCGGG	L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"""Cadherins / Major cadherins"""	1763	protein-coding gene	gene with protein product	"""R-Cadherin"""	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.1299_1317delCAGTGGGGATCCATCCGGG	20.37:g.60485588_60485606delCAGTGGGGATCCATCCGGG	ENSP00000353656:p.Ile433fs					CDH4_uc002ybp.1_Frame_Shift_Del_p.I359fs	p.I433fs	NM_001794	NP_001785	P55283	CADH4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.36e-08)		9	1313_1331	+			433_439			Cadherin 3.|Extracellular (Potential).		B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Frame_Shift_Del	DEL	ENST00000360469.5	37	c.1299_1317delCAGTGGGGATCCATCCGGG	CCDS13488.1																																																																																				0.603	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2		NM_001794		7	73	NaN	NaN	NaN	NaN	NaN	7	73	---	---
RFPL2	10739	broad.mit.edu	37	22	32590428	32590434	+	Frame_Shift_Del	DEL	TCCCACC	TCCCACC	-	rs377501702		TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr22:32590428_32590434delTCCCACC	ENST00000400237.1	-	3	1098_1104	c.163_169delGGTGGGA	c.(163-171)ggtgggaatfs	p.GGN55fs	RFPL2_ENST00000248980.4_5'Flank|RFPL2_ENST00000248983.4_Intron|RFPL2_ENST00000400236.3_5'UTR|RFPL2_ENST00000489846.1_5'Flank			O75678	RFPL2_HUMAN	ret finger protein-like 2	55							zinc ion binding (GO:0008270)			endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						TTGGTGAGATTCCCACCTCCCACTGGG	0.507																																						uc003amg.3		NaN																	0				skin(1)	1						c.(163-171)GGTGGGAATfs		ret finger protein-like 2 isoform 2																																				SO:0001589	frameshift_variant	10739						zinc ion binding	g.chr22:32590428_32590434delTCCCACC	AJ010231	CCDS43009.1, CCDS46694.1, CCDS43009.2	22q12.3	2008-06-12				ENSG00000128253		"""RING-type (C3HC4) zinc fingers"""	9979	protein-coding gene	gene with protein product		605969				10508838	Standard	NM_001098527		Approved	RNF79	uc003amg.3	O75678		ENST00000400237.1:c.163_169delGGTGGGA	22.37:g.32590428_32590434delTCCCACC	ENSP00000383096:p.Gly55fs					RFPL2_uc003ame.3_5'Flank|RFPL2_uc003amf.3_Intron|RFPL2_uc003amh.3_Intron	p.G55fs	NM_001098527	NP_001091997	O75678	RFPL2_HUMAN			3	1099_1105	-			55_57						Frame_Shift_Del	DEL	ENST00000400237.1	37	c.163_169delGGTGGGA	CCDS43009.2																																																																																				0.507	RFPL2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000075262.2		NM_006605		2	4	NaN	NaN	NaN	NaN	NaN	2	4	---	---
SH3BP5	9467	broad.mit.edu	37	3	15373833	15373835	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:15373833_15373835delTCC	ENST00000383791.3	-	1	301_303	c.81_83delGGA	c.(79-84)gaggaa>gaa	p.27_28EE>E	SH3BP5_ENST00000465894.2_Intron|SH3BP5_ENST00000253688.5_5'UTR|SH3BP5_ENST00000426925.1_Intron|SH3BP5_ENST00000408919.3_Intron	NM_004844.4	NP_004835.2	O60239	3BP5_HUMAN	SH3-domain binding protein 5 (BTK-associated)	27	Glu-rich.				intracellular signal transduction (GO:0035556)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	protein kinase inhibitor activity (GO:0004860)			NS(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	12						catcccctcttcctcctcctcct	0.719																																						uc003bzp.1		NaN																	0					0						c.(79-84)GAGGAA>GAA		SH3-domain binding protein 5 (BTK-associated)			,	55,4009		2,51,1979					,	1.1	0.1			22	132,7808		3,126,3841	no	coding,intron	SH3BP5	NM_004844.3,NM_001018009.2	,	5,177,5820	A1A1,A1R,RR		1.6625,1.3533,1.5578	,	,		187,11817				SO:0001651	inframe_deletion	9467				intracellular signal transduction	mitochondrion	protein kinase inhibitor activity|SH3 domain binding	g.chr3:15373833_15373835delTCC	AB005047	CCDS2625.2, CCDS43055.1	3p24.3	2008-07-10			ENSG00000131370	ENSG00000131370			10827	protein-coding gene	gene with protein product	"""SH3 binding protein"""	605612				9571151, 10339589	Standard	NM_004844		Approved	Sab	uc003bzp.2	O60239	OTTHUMG00000129859	ENST00000383791.3:c.81_83delGGA	3.37:g.15373842_15373844delTCC	ENSP00000373301:p.Glu29del					SH3BP5_uc010hem.1_RNA|SH3BP5_uc003bzq.1_Intron|SH3BP5_uc003bzr.1_Intron	p.27_28EE>E	NM_004844	NP_004835	O60239	3BP5_HUMAN			1	270_272	-			27_28			Glu-rich.		B3KQW6|Q5JWV9	In_Frame_Del	DEL	ENST00000383791.3	37	c.81_83delGGA	CCDS2625.2																																																																																				0.719	SH3BP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340740.2		NM_004844		2	4	NaN	NaN	NaN	NaN	NaN	2	4	---	---
RFPL4B	442247	broad.mit.edu	37	6	112671551	112671561	+	Frame_Shift_Del	DEL	ACTTAGAAGAA	ACTTAGAAGAA	-	rs555446520		TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr6:112671551_112671561delACTTAGAAGAA	ENST00000441065.2	+	3	953_963	c.641_651delACTTAGAAGAA	c.(640-651)gacttagaagaafs	p.DLEE214fs	RP11-506B6.6_ENST00000590673.1_RNA|RP11-506B6.6_ENST00000587816.1_RNA|RP11-506B6.6_ENST00000585611.1_RNA	NM_001013734.2	NP_001013756.2	Q6ZWI9	RFPLB_HUMAN	ret finger protein-like 4B	214	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.						zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	14		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)		all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244)		CTGGATGCTGACTTAGAAGAAATCCAGTTTT	0.455																																						uc003pvx.1		NaN																	0					0						c.(640-651)GACTTAGAAGAAfs		ret finger protein-like 4B																																				SO:0001589	frameshift_variant	442247						zinc ion binding	g.chr6:112671551_112671561delACTTAGAAGAA	AK122906	CCDS34515.1	6q21	2007-04-24			ENSG00000251258	ENSG00000251258		"""RING-type (C3HC4) zinc fingers"""	33264	protein-coding gene	gene with protein product							Standard	NM_001013734		Approved	RNF211	uc003pvx.1	Q6ZWI9	OTTHUMG00000015390	ENST00000441065.2:c.641_651delACTTAGAAGAA	6.37:g.112671551_112671561delACTTAGAAGAA	ENSP00000423391:p.Asp214fs						p.D214fs	NM_001013734	NP_001013756	Q6ZWI9	RFPLB_HUMAN		all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244)	3	953_963	+		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)	214_217			B30.2/SPRY.		A2RU91	Frame_Shift_Del	DEL	ENST00000441065.2	37	c.641_651delACTTAGAAGAA	CCDS34515.1																																																																																				0.455	RFPL4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041885.2		NM_001013734		9	32	NaN	NaN	NaN	NaN	NaN	9	32	---	---
CDK5	1020	broad.mit.edu	37	7	150751123	150751134	+	In_Frame_Del	DEL	GGGGTGCTGCAG	GGGGTGCTGCAG	-	rs200333664|rs11541602|rs553172337		TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr7:150751123_150751134delGGGGTGCTGCAG	ENST00000485972.1	-	12	1522_1533	c.841_852delCTGCAGCACCCC	c.(841-852)ctgcagcaccccdel	p.LQHP281del	CDK5_ENST00000297518.4_In_Frame_Del_p.LQHP249del	NM_004935.3	NP_004926.1	Q00535	CDK5_HUMAN	cyclin-dependent kinase 5	281	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon extension (GO:0048675)|axon guidance (GO:0007411)|behavioral response to cocaine (GO:0048148)|blood coagulation (GO:0007596)|calcium ion import (GO:0070509)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|central nervous system neuron development (GO:0021954)|cerebellar cortex formation (GO:0021697)|corpus callosum development (GO:0022038)|cortical actin cytoskeleton organization (GO:0030866)|dendrite morphogenesis (GO:0048813)|embryo development (GO:0009790)|hippocampus development (GO:0021766)|intracellular protein transport (GO:0006886)|layer formation in cerebral cortex (GO:0021819)|motor neuron axon guidance (GO:0008045)|negative regulation of axon extension (GO:0030517)|negative regulation of cell cycle (GO:0045786)|negative regulation of neuron death (GO:1901215)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of proteolysis (GO:0045861)|negative regulation of synaptic plasticity (GO:0031914)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|nucleocytoplasmic transport (GO:0006913)|oligodendrocyte differentiation (GO:0048709)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphorylation (GO:0016310)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein targeting to membrane (GO:0090314)|protein autophosphorylation (GO:0046777)|protein localization to synapse (GO:0035418)|receptor catabolic process (GO:0032801)|receptor clustering (GO:0043113)|regulated secretory pathway (GO:0045055)|regulation of apoptotic process (GO:0042981)|regulation of cell cycle arrest (GO:0071156)|regulation of cell migration (GO:0030334)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|rhythmic process (GO:0048511)|Schwann cell development (GO:0014044)|sensory perception of pain (GO:0019233)|serine phosphorylation of STAT3 protein (GO:0033136)|skeletal muscle tissue development (GO:0007519)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle exocytosis (GO:0016079)|visual learning (GO:0008542)	axon (GO:0030424)|cell junction (GO:0030054)|cyclin-dependent protein kinase 5 holoenzyme complex (GO:0016533)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|filopodium (GO:0030175)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activator activity (GO:0030549)|ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|ErbB-2 class receptor binding (GO:0005176)|ErbB-3 class receptor binding (GO:0043125)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			central_nervous_system(1)|endometrium(2)|lung(5)|urinary_tract(1)	9		Breast(660;0.159)|Ovarian(593;0.182)	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.008)|Lung(243;0.00942)|BRCA - Breast invasive adenocarcinoma(188;0.242)		CGGAGAAGTAGGGGTGCTGCAGGGCCTCTTCT	0.623																																						uc003wir.1		NaN																	0				lung(1)|central_nervous_system(1)	2						c.(841-852)CTGCAGCACCCCdel		cyclin-dependent kinase 5 isoform 1																																				SO:0001651	inframe_deletion	1020				activation of pro-apoptotic gene products|blood coagulation|cell division|cell proliferation|embryo development|negative regulation of transcription, DNA-dependent|positive regulation of neuron apoptosis	axon|cytosol|dendrite|growth cone|lamellipodium|membrane|neuromuscular junction|neuronal cell body	acetylcholine receptor activator activity|ATP binding|cyclin-dependent protein kinase activity|ErbB-2 class receptor binding|ErbB-3 class receptor binding|tau-protein kinase activity	g.chr7:150751123_150751134delGGGGTGCTGCAG	X66364	CCDS47748.1, CCDS55184.1	7q36	2011-11-08			ENSG00000164885	ENSG00000164885		"""Cyclin-dependent kinases"""	1774	protein-coding gene	gene with protein product		123831				8275715, 1639063	Standard	NM_001164410		Approved	PSSALRE	uc003wir.2	Q00535	OTTHUMG00000158414	ENST00000485972.1:c.841_852delCTGCAGCACCCC	7.37:g.150751123_150751134delGGGGTGCTGCAG	ENSP00000419782:p.Leu281_Pro284del						p.LQHP281del	NM_004935	NP_004926	Q00535	CDK5_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.008)|Lung(243;0.00942)|BRCA - Breast invasive adenocarcinoma(188;0.242)	12	902_913	-		Breast(660;0.159)|Ovarian(593;0.182)	281_284			Protein kinase.		A1XKG3	In_Frame_Del	DEL	ENST00000485972.1	37	c.841_852delCTGCAGCACCCC	CCDS47748.1																																																																																				0.623	CDK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350965.3				5	8	NaN	NaN	NaN	NaN	NaN	5	8	---	---
C8orf34	116328	broad.mit.edu	37	8	69358655	69358656	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:69358655_69358656delTG	ENST00000539993.1	+	3	858_859	c.309_310delTG	c.(307-312)gctgtgfs	p.V104fs	C8orf34_ENST00000349492.3_3'UTR|C8orf34_ENST00000337103.4_Frame_Shift_Del_p.V79fs|C8orf34_ENST00000523686.1_Frame_Shift_Del_p.V104fs|C8orf34_ENST00000348340.2_Frame_Shift_Del_p.V104fs|C8orf34_ENST00000518698.1_Frame_Shift_Del_p.V190fs			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	104										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			GTGACCTTGCTGTGTCTAATAT	0.337																																						uc010lyz.2		NaN																	0				large_intestine(1)	1						c.(307-312)GCTGTGfs		hypothetical protein LOC116328																																				SO:0001589	frameshift_variant	116328				signal transduction		cAMP-dependent protein kinase regulator activity	g.chr8:69358655_69358656delTG	AB056652	CCDS6203.1, CCDS6203.2	8q13	2009-10-01			ENSG00000165084	ENSG00000165084			30905	protein-coding gene	gene with protein product	"""vestibule 1"""						Standard	NM_052958		Approved	vest-1, VEST1	uc010lyz.3	Q49A92	OTTHUMG00000164438	ENST00000539993.1:c.309_310delTG	8.37:g.69358657_69358658delTG	ENSP00000438159:p.Val104fs					C8orf34_uc010lyx.1_Frame_Shift_Del_p.A103fs|C8orf34_uc010lyy.1_Frame_Shift_Del_p.A103fs|C8orf34_uc003xyb.2_Frame_Shift_Del_p.A78fs	p.A103fs	NM_052958	NP_443190	Q49A92	CH034_HUMAN	Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)		3	358_359	+			103_104					A8K5X1|G3XAM6|Q8N1X0|Q8N9M7|Q8ND19|Q96Q28	Frame_Shift_Del	DEL	ENST00000539993.1	37	c.309_310delTG																																																																																					0.337	C8orf34-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding			NM_052958		13	59	NaN	NaN	NaN	NaN	NaN	13	59	---	---
YWHAZ	7534	broad.mit.edu	37	8	101936227	101936245	+	Frame_Shift_Del	DEL	TGTATGACTCTTCACTTAA	TGTATGACTCTTCACTTAA	-			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:101936227_101936245delTGTATGACTCTTCACTTAA	ENST00000395957.2	-	6	957_975	c.616_634delTTAAGTGAAGAGTCATACA	c.(616-636)ttaagtgaagagtcatacaaafs	p.LSEESYK206fs	YWHAZ_ENST00000522542.1_Frame_Shift_Del_p.LSEESYK131fs|YWHAZ_ENST00000353245.3_Frame_Shift_Del_p.LSEESYK206fs|YWHAZ_ENST00000419477.2_Frame_Shift_Del_p.LSEESYK206fs|YWHAZ_ENST00000395948.2_Frame_Shift_Del_p.LSEESYK129fs|YWHAZ_ENST00000395951.3_Frame_Shift_Del_p.LSEESYK206fs|YWHAZ_ENST00000522819.1_Frame_Shift_Del_p.LSEESYK86fs|YWHAZ_ENST00000521309.1_Frame_Shift_Del_p.LSEESYK86fs|YWHAZ_ENST00000395958.2_Frame_Shift_Del_p.LSEESYK206fs|YWHAZ_ENST00000457309.1_Frame_Shift_Del_p.LSEESYK206fs|YWHAZ_ENST00000395953.2_Frame_Shift_Del_p.LSEESYK206fs|YWHAZ_ENST00000395956.3_Frame_Shift_Del_p.LSEESYK206fs			P63104	1433Z_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta	206					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|gene expression (GO:0010467)|histamine secretion by mast cell (GO:0002553)|intrinsic apoptotic signaling pathway (GO:0097193)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|platelet activation (GO:0030168)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein targeting to mitochondrion (GO:0006626)|response to drug (GO:0042493)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mast cell granule (GO:0042629)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|transcription factor binding (GO:0008134)			large_intestine(1)|lung(2)	3	all_cancers(14;7.43e-06)|all_epithelial(15;2.77e-08)|Lung NSC(17;6.08e-05)|all_lung(17;0.000197)		Epithelial(11;2.79e-11)|all cancers(13;5.45e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.75e-05)			GTGCTGTCTTTGTATGACTCTTCACTTAATGTATCAAGT	0.333																																						uc011lhe.1		NaN																	0					0						c.(616-636)TTAAGTGAAGAGTCATACAAAfs		tyrosine 3/tryptophan 5 -monooxygenase	Ginkgo biloba(DB01381)																																			SO:0001589	frameshift_variant	7534				anti-apoptosis|mRNA metabolic process|platelet activation|signal transduction	cytosol|melanosome	transcription factor binding	g.chr8:101936227_101936245delTGTATGACTCTTCACTTAA	U28964	CCDS6290.1	8q22.3	2013-12-03	2013-12-03		ENSG00000164924	ENSG00000164924			12855	protein-coding gene	gene with protein product	"""14-3-3 zeta"", ""14-3-3 delta"""	601288	"""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, delta polypeptide"", ""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta polypeptide"""	YWHAD		8617504, 7890696	Standard	NM_003406		Approved	KCIP-1, 14-3-3-zeta	uc010mbr.2	P63104	OTTHUMG00000134291	ENST00000395957.2:c.616_634delTTAAGTGAAGAGTCATACA	8.37:g.101936227_101936245delTGTATGACTCTTCACTTAA	ENSP00000379287:p.Leu206fs					YWHAZ_uc003yjv.2_Frame_Shift_Del_p.L206fs|YWHAZ_uc011lhf.1_Frame_Shift_Del_p.L206fs|YWHAZ_uc003yjw.2_Frame_Shift_Del_p.L206fs|YWHAZ_uc010mbq.2_Frame_Shift_Del_p.L129fs|YWHAZ_uc011lhg.1_Frame_Shift_Del_p.L86fs|YWHAZ_uc010mbr.2_Frame_Shift_Del_p.L206fs|YWHAZ_uc003yjx.2_Frame_Shift_Del_p.L206fs|YWHAZ_uc003yjy.2_Frame_Shift_Del_p.L206fs	p.L206fs	NM_001135702	NP_001129174	P63104	1433Z_HUMAN	Epithelial(11;2.79e-11)|all cancers(13;5.45e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.75e-05)		5	793_811	-	all_cancers(14;7.43e-06)|all_epithelial(15;2.77e-08)|Lung NSC(17;6.08e-05)|all_lung(17;0.000197)		206_212					A8K1N0|B7Z465|P29213|P29312|Q32P43|Q5XJ08|Q6GPI2|Q6IN74|Q6NUR9|Q6P3U9|Q86V33	Frame_Shift_Del	DEL	ENST00000395957.2	37	c.616_634delTTAAGTGAAGAGTCATACA	CCDS6290.1																																																																																				0.333	YWHAZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259017.2		NM_145690		16	155	NaN	NaN	NaN	NaN	NaN	16	155	---	---
MTBP	27085	broad.mit.edu	37	8	121483136	121483144	+	In_Frame_Del	DEL	AATGGAAGG	AATGGAAGG	-			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:121483136_121483144delAATGGAAGG	ENST00000305949.1	+	11	1169_1177	c.1124_1132delAATGGAAGG	c.(1123-1134)aaatggaaggaa>aaa	p.WKE376del		NM_022045.4	NP_071328.2	Q96DY7	MTBP_HUMAN	MDM2 binding protein	376					cell cycle arrest (GO:0007050)|mitotic spindle checkpoint (GO:0071174)|negative regulation of cell proliferation (GO:0008285)|protein localization to kinetochore (GO:0034501)|traversing start control point of mitotic cell cycle (GO:0007089)	chromatin (GO:0000785)|kinetochore (GO:0000776)				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			AGTTCAAGAAAATGGAAGGAATATATAGC	0.33																																						uc003ypc.1		NaN																	0				skin(2)|ovary(1)	3						c.(1123-1134)AAATGGAAGGAA>AAA		Mdm2, transformed 3T3 cell double minute 2, p53																																				SO:0001651	inframe_deletion	27085				cell cycle arrest			g.chr8:121483136_121483144delAATGGAAGG		CCDS6333.1	8q24.1-q24.2	2014-03-03	2014-03-03		ENSG00000172167	ENSG00000172167			7417	protein-coding gene	gene with protein product		605927	"""MDM2 (mouse double minute 2)-binding protein, 104kD"", ""Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa"""			10906133, 11060448	Standard	NM_022045		Approved		uc003ypc.2	Q96DY7	OTTHUMG00000165040	ENST00000305949.1:c.1124_1132delAATGGAAGG	8.37:g.121483136_121483144delAATGGAAGG	ENSP00000303398:p.Trp376_Glu378del					MTBP_uc011lie.1_RNA	p.WKE376del	NM_022045	NP_071328	Q96DY7	MTBP_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)		11	1169_1177	+	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		376_378					B4DUR5|Q9HA89	In_Frame_Del	DEL	ENST00000305949.1	37	c.1124_1132delAATGGAAGG	CCDS6333.1																																																																																				0.330	MTBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381530.1		NM_022045		9	125	NaN	NaN	NaN	NaN	NaN	9	125	---	---
KLHL34	257240	broad.mit.edu	37	X	21674920	21674922	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chrX:21674920_21674922delCTC	ENST00000379499.2	-	1	1526_1528	c.985_987delGAG	c.(985-987)gagdel	p.E329del		NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN	kelch-like family member 34	329	Glu-rich.					extracellular space (GO:0005615)				cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						TGAGCTCCCActcctcctcctcc	0.65														17	0.00450331	0.0061	0.0	3775	,	,		12349	0.006		0.0	False		,,,				2504	0.0031					uc004czz.1		NaN																	0				ovary(1)	1						c.(985-987)GAGdel		kelch-like 34				3,72,3595		0,0,3,0,6,40,20,1530,492						4.9	1.0			25	6,150,6231		0,0,3,3,3,93,51,2244,1647	no	codingComplex	KLHL34	NM_153270.1		0,0,6,3,9,133,71,3774,2139	A1A1,A1A2,A1R,A1,A2A2,A2R,A2,RR,R		2.4425,2.0436,2.2969				9,222,9826				SO:0001651	inframe_deletion	257240							g.chrX:21674920_21674922delCTC	AK092279	CCDS14199.1	Xp22.12	2013-02-22	2013-02-22		ENSG00000185915	ENSG00000185915		"""Kelch-like"", ""BTB/POZ domain containing"""	26634	protein-coding gene	gene with protein product			"""kelch-like 34 (Drosophila)"""				Standard	NM_153270		Approved	FLJ34960, RP11-450P7.3	uc004czz.1	Q8N239	OTTHUMG00000021234	ENST00000379499.2:c.985_987delGAG	X.37:g.21674929_21674931delCTC	ENSP00000368813:p.Glu329del						p.E329del	NM_153270	NP_695002	Q8N239	KLH34_HUMAN			1	1527_1529	-			329			Kelch 1.|Glu-rich.			In_Frame_Del	DEL	ENST00000379499.2	37	c.985_987delGAG	CCDS14199.1																																																																																				0.650	KLHL34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056022.1		NM_153270		2	4	NaN	NaN	NaN	NaN	NaN	2	4	---	---
