{"X1":"614","Hugo_Symbol":"PRKAG2","Entrez_Gene_Id":51422,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr7","Start_Position":151781410,"End_Position":151781410,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-49-4505-01A-01D-1931-08","Matched_Norm_Sample_Barcode":"TCGA-49-4505-11A-01D-1265-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"8592415a-1d24-4501-99ce-280807917c24","Matched_Norm_Sample_UUID":"58939308-d13a-40fb-8143-e3d66cb94634","HGVSc":"c.208G>T","HGVSp":"p.Gly70Cys","HGVSp_Short":"p.G70C","Transcript_ID":"ENST00000287878","Exon_Number":"3/16","t_depth":42,"t_ref_count":27,"t_alt_count":14,"n_depth":15,"all_effects":"PRKAG2,missense_variant,p.G70C,ENST00000287878,NM_016203.4,c.208G>T,MODERATE,YES,deleterious_low_confidence(0.01),possibly_damaging(0.456),-1;PRKAG2,missense_variant,p.G26C,ENST00000651764,,c.76G>T,MODERATE,,deleterious_low_confidence(0.02),possibly_damaging(0.456),-1;PRKAG2,missense_variant,p.G26C,ENST00000652159,,c.76G>T,MODERATE,,deleterious_low_confidence(0.02),possibly_damaging(0.456),-1;PRKAG2,missense_variant,p.G26C,ENST00000392801,NM_001040633.1,c.76G>T,MODERATE,,deleterious_low_confidence(0.02),possibly_damaging(0.456),-1;PRKAG2,missense_variant,p.G26C,ENST00000652047,,c.76G>T,MODERATE,,deleterious_low_confidence(0.02),possibly_damaging(0.646),-1;PRKAG2,missense_variant,p.G26C,ENST00000652707,,c.76G>T,MODERATE,,deleterious(0.01),probably_damaging(0.967),-1;PRKAG2,missense_variant,p.G70C,ENST00000652321,,c.208G>T,MODERATE,,deleterious(0.01),possibly_damaging(0.881),-1;PRKAG2,intron_variant,,ENST00000650858,,c.-248+33006G>T,MODIFIER,,,,-1;PRKAG2,intron_variant,,ENST00000651378,,c.-258+33006G>T,MODIFIER,,,,-1;PRKAG2,non_coding_transcript_exon_variant,,ENST00000652714,,n.381G>T,MODIFIER,,,,-1;PRKAG2,non_coding_transcript_exon_variant,,ENST00000461529,,n.227G>T,MODIFIER,,,,-1;PRKAG2,missense_variant,p.G26C,ENST00000651303,,c.76G>T,MODERATE,,deleterious(0.01),probably_damaging(0.919),-1;PRKAG2,missense_variant,p.G26C,ENST00000651188,,c.76G>T,MODERATE,,deleterious(0.03),possibly_damaging(0.456),-1;PRKAG2,missense_variant,p.G70C,ENST00000488258,,c.208G>T,MODERATE,,deleterious(0.03),probably_damaging(0.971),-1;PRKAG2,non_coding_transcript_exon_variant,,ENST00000650948,,n.323G>T,MODIFIER,,,,-1;PRKAG2,non_coding_transcript_exon_variant,,ENST00000481434,,n.713G>T,MODIFIER,,,,-1;PRKAG2,upstream_gene_variant,,ENST00000651836,,,MODIFIER,,,,-1;PRKAG2,upstream_gene_variant,,ENST00000652136,,,MODIFIER,,,,-1","Allele":"A","Gene":"ENSG00000106617","Feature":"ENST00000287878","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"703/3279","CDS_position":"208/1710","Protein_position":"70/569","Amino_acids":"G/C","Codons":"Ggc/Tgc","Existing_variation":"COSV99835640","TRANSCRIPT_STRAND":-1,"SYMBOL":"PRKAG2","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:9386","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS5928.1","ENSP":"ENSP00000287878","SWISSPROT":"Q9UGJ0.179","TREMBL":"A0A090N8Q6.48","UNIPARC":"UPI00001250B5","UNIPROT_ISOFORM":"Q9UGJ0-1","RefSeq":"NM_016203.4","MANE":"NM_016203.4","APPRIS":"P4","SIFT":"deleterious_low_confidence(0.01)","PolyPhen":"possibly_damaging(0.456)","EXON":"3/16","DOMAINS":"MobiDB_lite:mobidb-lite","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","GENE_PHENO":"1","CONTEXT":"GCTGCCCGGGC","tumor_bam_uuid":"ed59d375-b0ed-4ed2-9199-f1e8c215fcf7","normal_bam_uuid":"1200b8aa-f0d5-49fc-b923-e812d37d67a8","case_id":"088edf89-d2b5-40c7-b066-df3bd383f7ea","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"489","Hugo_Symbol":"FBXL7","Entrez_Gene_Id":23194,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr5","Start_Position":15936899,"End_Position":15936899,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"T","Tumor_Sample_Barcode":"TCGA-05-4389-01A-01D-1265-08","Matched_Norm_Sample_Barcode":"TCGA-05-4389-10A-01D-1265-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"c6f382d4-a522-4333-88b5-be7f55fe80f5","Matched_Norm_Sample_UUID":"1696eddb-18d5-4d86-a7ee-f388add3e3ba","HGVSc":"c.1189C>T","HGVSp":"p.Leu397Phe","HGVSp_Short":"p.L397F","Transcript_ID":"ENST00000504595","Exon_Number":"4/4","t_depth":36,"t_ref_count":27,"t_alt_count":8,"n_depth":38,"all_effects":"FBXL7,missense_variant,p.L397F,ENST00000504595,NM_012304.5,c.1189C>T,MODERATE,YES,deleterious(0),probably_damaging(0.997),1;FBXL7,missense_variant,p.L355F,ENST00000329673,,c.1063C>T,MODERATE,,deleterious(0),probably_damaging(0.997),1;FBXL7,missense_variant,p.L350F,ENST00000510662,NM_001278317.1,c.1048C>T,MODERATE,,deleterious(0),probably_damaging(0.997),1;MIR887,downstream_gene_variant,,ENST00000401258,,,MODIFIER,YES,,,1","Allele":"T","Gene":"ENSG00000183580","Feature":"ENST00000504595","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"1686/4580","CDS_position":"1189/1476","Protein_position":"397/491","Amino_acids":"L/F","Codons":"Ctc/Ttc","Existing_variation":"COSV61646950","TRANSCRIPT_STRAND":1,"SYMBOL":"FBXL7","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:13604","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS54833.1","ENSP":"ENSP00000423630","SWISSPROT":"Q9UJT9.157","UNIPARC":"UPI00000724E0","UNIPROT_ISOFORM":"Q9UJT9-1","RefSeq":"NM_012304.5","MANE":"NM_012304.5","APPRIS":"P1","SIFT":"deleterious(0)","PolyPhen":"probably_damaging(0.997)","EXON":"4/4","DOMAINS":"Gene3D:3.80.10.10;Pfam:PF13516;PANTHER:PTHR13318;PANTHER:PTHR13318:SF50;SMART:SM00367;Superfamily:SSF52047","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","CONTEXT":"AGTACCTCGCC","tumor_bam_uuid":"57541efa-dcb7-4ba2-8b99-d4ab689a330c","normal_bam_uuid":"496fd8fb-0f34-4e71-929c-7b94cacdcb19","case_id":"a3de401d-91fe-49a2-bb07-81c1a06506e6","COSMIC":"COSM6103151","hotspot":"N","RNA_Support":"Unknown","callers":"muse;varscan2"}
{"X1":"474","Hugo_Symbol":"ST6GALNAC3","Entrez_Gene_Id":256435,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr1","Start_Position":76628672,"End_Position":76628672,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-78-8660-01A-11D-2393-08","Matched_Norm_Sample_Barcode":"TCGA-78-8660-10A-01D-2393-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"68507d4d-9ccc-4aeb-a63a-14347148938c","Matched_Norm_Sample_UUID":"0df31b8b-881c-40ad-977c-f4711e8a2ad9","HGVSc":"c.784G>A","HGVSp":"p.Glu262Lys","HGVSp_Short":"p.E262K","Transcript_ID":"ENST00000328299","Exon_Number":"5/5","t_depth":136,"t_ref_count":130,"t_alt_count":6,"n_depth":87,"all_effects":"ST6GALNAC3,missense_variant,p.E262K,ENST00000328299,NM_001349106.2&NM_001349111.2&NM_152996.4&NM_001349107.2&NM_001349108.2,c.784G>A,MODERATE,YES,,probably_damaging(0.995),1","Allele":"A","Gene":"ENSG00000184005","Feature":"ENST00000328299","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"905/6836","CDS_position":"784/918","Protein_position":"262/305","Amino_acids":"E/K","Codons":"Gag/Aag","Existing_variation":"COSV100082265","TRANSCRIPT_STRAND":1,"SYMBOL":"ST6GALNAC3","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:19343","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS672.1","ENSP":"ENSP00000329214","SWISSPROT":"Q8NDV1.153","UNIPARC":"UPI000006F75A","UNIPROT_ISOFORM":"Q8NDV1-1","RefSeq":"NM_001349106.2;NM_001349111.2;NM_152996.4;NM_001349107.2;NM_001349108.2","MANE":"NM_152996.4","APPRIS":"P1","PolyPhen":"probably_damaging(0.995)","EXON":"5/5","DOMAINS":"Gene3D:3.90.1480.20;Pfam:PF00777;PANTHER:PTHR45906:SF2;PANTHER:PTHR45906","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","CONTEXT":"GAGATGAGTGT","tumor_bam_uuid":"60cacd1d-e57c-4861-b559-bdce6928a40f","normal_bam_uuid":"72e6b358-577a-4b97-920a-b1e044cb4916","case_id":"781f40c9-c099-4c96-8269-ebe2a449c93d","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2"}
{"X1":"306","Hugo_Symbol":"FAM183BP","Entrez_Gene_Id":340286,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr7","Start_Position":38685776,"End_Position":38685776,"Strand":"+","Variant_Classification":"RNA","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"A","dbSNP_RS":"novel","Tumor_Sample_Barcode":"TCGA-55-A4DF-01A-11D-A24D-08","Matched_Norm_Sample_Barcode":"TCGA-55-A4DF-10A-01D-A24F-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"9b0086c6-b9d2-4307-87c2-3ad6d462d9b5","Matched_Norm_Sample_UUID":"b6d8e54f-06ff-47fe-b6a7-371417e180a0","HGVSc":"n.1165G>T","Transcript_ID":"ENST00000409072","Exon_Number":"2/2","t_depth":152,"t_ref_count":128,"t_alt_count":24,"n_depth":128,"all_effects":"FAM183BP,non_coding_transcript_exon_variant,,ENST00000409072,,n.1165G>T,MODIFIER,YES,,,-1","Allele":"A","Gene":"ENSG00000164556","Feature":"ENST00000409072","Feature_type":"Transcript","One_Consequence":"non_coding_transcript_exon_variant","Consequence":"non_coding_transcript_exon_variant","cDNA_position":"1165/1595","TRANSCRIPT_STRAND":-1,"SYMBOL":"FAM183BP","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:34511","BIOTYPE":"processed_pseudogene","CANONICAL":"YES","EXON":"2/2","IMPACT":"MODIFIER","PICK":1,"VARIANT_CLASS":"SNV","CONTEXT":"TTGGCCCCTGG","tumor_bam_uuid":"228352b7-77ec-4b68-9731-0919b6b9e144","normal_bam_uuid":"47eacc7f-3755-4c32-a65e-bd6c1dc174fe","case_id":"362000e4-cf7c-48fc-93cc-8f5994b442ea","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"509","Hugo_Symbol":"ANKH","Entrez_Gene_Id":56172,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr5","Start_Position":14745956,"End_Position":14745956,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-44-2668-01A-01D-A271-08","Matched_Norm_Sample_Barcode":"TCGA-44-2668-10A-01D-1489-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"409bc528-4154-4680-bfeb-8f004f136a25","Matched_Norm_Sample_UUID":"bf763792-789b-47d2-b4fd-1dbcaf7467ab","HGVSc":"c.829G>T","HGVSp":"p.Ala277Ser","HGVSp_Short":"p.A277S","Transcript_ID":"ENST00000284268","Exon_Number":"7/12","t_depth":60,"t_ref_count":44,"t_alt_count":16,"n_depth":72,"all_effects":"ANKH,missense_variant,p.A277S,ENST00000284268,NM_054027.6,c.829G>T,MODERATE,YES,deleterious(0),probably_damaging(0.994),-1;ANKH,non_coding_transcript_exon_variant,,ENST00000503939,,n.341G>T,MODIFIER,,,,-1;ANKH,non_coding_transcript_exon_variant,,ENST00000515517,,n.63G>T,MODIFIER,,,,-1","Allele":"A","Gene":"ENSG00000154122","Feature":"ENST00000284268","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"1160/8207","CDS_position":"829/1479","Protein_position":"277/492","Amino_acids":"A/S","Codons":"Gcg/Tcg","Existing_variation":"COSV52482285;COSV99414490","TRANSCRIPT_STRAND":-1,"SYMBOL":"ANKH","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:15492","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS3885.1","ENSP":"ENSP00000284268","SWISSPROT":"Q9HCJ1.154","UNIPARC":"UPI000003F535","UNIPROT_ISOFORM":"Q9HCJ1-1","RefSeq":"NM_054027.6","MANE":"NM_054027.6","APPRIS":"P1","SIFT":"deleterious(0)","PolyPhen":"probably_damaging(0.994)","EXON":"7/12","DOMAINS":"Pfam:PF07260;PANTHER:PTHR28384","SOMATIC":"1;1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1;1","GENE_PHENO":"1","CONTEXT":"AATCGCCACTG","tumor_bam_uuid":"635f4882-9fd3-4ba4-a6bb-c2e04a91e31d","normal_bam_uuid":"2af16af1-1909-41f8-a008-d1e99138ed46","case_id":"bab43415-d413-40be-a4c0-2c40a52afe6a","COSMIC":"COSM6102904","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"153","Hugo_Symbol":"RGS9","Entrez_Gene_Id":8787,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr17","Start_Position":65225220,"End_Position":65225220,"Strand":"+","Variant_Classification":"Nonsense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"A","dbSNP_RS":"rs1396383344","Tumor_Sample_Barcode":"TCGA-17-Z031-01A-01W-0746-08","Matched_Norm_Sample_Barcode":"TCGA-17-Z031-11A-01W-0746-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"6516244a-dfd8-4568-a2d2-7556cbea52b1","Matched_Norm_Sample_UUID":"691dc2f3-35d7-4b83-a51a-49ed1d4c2a07","HGVSc":"c.1626C>A","HGVSp":"p.Cys542Ter","HGVSp_Short":"p.C542*","Transcript_ID":"ENST00000262406","Exon_Number":"18/19","t_depth":323,"t_ref_count":230,"t_alt_count":93,"n_depth":174,"all_effects":"RGS9,stop_gained,p.C542*,ENST00000262406,NM_003835.4,c.1626C>A,HIGH,YES,,,1;RGS9,stop_gained,p.C539*,ENST00000449996,NM_001081955.3,c.1617C>A,HIGH,,,,1;RGS9,stop_gained,p.C542*,ENST00000635833,,c.1626C>A,HIGH,,,,1;RGS9,stop_gained,p.C539*,ENST00000443584,NM_001165933.2,c.1617C>A,HIGH,,,,1;RGS9,3_prime_UTR_variant,,ENST00000584234,,c.*145C>A,MODIFIER,,,,1;RGS9,non_coding_transcript_exon_variant,,ENST00000577595,,n.1554C>A,MODIFIER,,,,1","Allele":"A","Gene":"ENSG00000108370","Feature":"ENST00000262406","Feature_type":"Transcript","One_Consequence":"stop_gained","Consequence":"stop_gained","cDNA_position":"1797/2492","CDS_position":"1626/2025","Protein_position":"542/674","Amino_acids":"C/*","Codons":"tgC/tgA","Existing_variation":"rs1396383344","TRANSCRIPT_STRAND":1,"SYMBOL":"RGS9","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:10004","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS42373.1","ENSP":"ENSP00000262406","SWISSPROT":"O75916.189","UNIPARC":"UPI000013382A","UNIPROT_ISOFORM":"O75916-1","RefSeq":"NM_003835.4","MANE":"NM_003835.4","APPRIS":"P4","EXON":"18/19","DOMAINS":"PANTHER:PTHR45746;PANTHER:PTHR45746:SF1;MobiDB_lite:mobidb-lite","IMPACT":"HIGH","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"GENE_PHENO":"1","CONTEXT":"GAGTGCAGCGG","tumor_bam_uuid":"874092f9-5c52-4298-9651-0418633660b1","normal_bam_uuid":"bb97a9eb-2775-40c1-aecf-aa7e5b83a8f0","case_id":"c43c8eea-7014-4abe-b805-397a9062d3e0","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"20","Hugo_Symbol":"LGR4","Entrez_Gene_Id":55366,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr11","Start_Position":27371649,"End_Position":27371649,"Strand":"+","Variant_Classification":"Silent","Variant_Type":"SNP","Reference_Allele":"A","Tumor_Seq_Allele1":"A","Tumor_Seq_Allele2":"G","Tumor_Sample_Barcode":"TCGA-78-7539-01A-11D-2063-08","Matched_Norm_Sample_Barcode":"TCGA-78-7539-10A-01D-2063-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"eda8bdf1-626a-417c-8c57-998b4a79872e","Matched_Norm_Sample_UUID":"7385c065-1d06-4525-b66b-cdcecedcb6b9","HGVSc":"c.1545T>C","HGVSp":"p.His515=","HGVSp_Short":"p.H515=","Transcript_ID":"ENST00000379214","Exon_Number":"17/18","t_depth":92,"t_ref_count":80,"t_alt_count":12,"n_depth":107,"all_effects":"LGR4,synonymous_variant,p.H515=,ENST00000379214,NM_018490.5,c.1545T>C,LOW,YES,,,-1;LGR4,synonymous_variant,p.H491=,ENST00000389858,NM_001346432.1,c.1473T>C,LOW,,,,-1;LGR4,downstream_gene_variant,,ENST00000489910,,,MODIFIER,,,,-1","Allele":"G","Gene":"ENSG00000205213","Feature":"ENST00000379214","Feature_type":"Transcript","One_Consequence":"synonymous_variant","Consequence":"synonymous_variant","cDNA_position":"2033/5250","CDS_position":"1545/2856","Protein_position":"515/951","Amino_acids":"H","Codons":"caT/caC","Existing_variation":"COSV64863995","TRANSCRIPT_STRAND":-1,"SYMBOL":"LGR4","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:13299","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS31449.1","ENSP":"ENSP00000368516","SWISSPROT":"Q9BXB1.163","UNIPARC":"UPI00000373E7","UNIPROT_ISOFORM":"Q9BXB1-1","RefSeq":"NM_018490.5","MANE":"NM_018490.5","APPRIS":"P1","EXON":"17/18","DOMAINS":"PDB-ENSP_mappings:4kt1.A;PANTHER:PTHR45836;PANTHER:PTHR45836:SF10","SOMATIC":"1","IMPACT":"LOW","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","GENE_PHENO":"1","CONTEXT":"TGACTATGTTC","tumor_bam_uuid":"1bbf30e9-2fe9-4dbe-b9bf-90d97b3b67de","normal_bam_uuid":"548f7d12-740c-4cac-81b4-4100c68942d7","case_id":"7be86a90-6da8-4c01-8a7a-bc5cfef9894f","COSMIC":"COSM6132157","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"383","Hugo_Symbol":"REXO2","Entrez_Gene_Id":25996,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr11","Start_Position":114446048,"End_Position":114446048,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"A","Tumor_Seq_Allele1":"A","Tumor_Seq_Allele2":"G","Tumor_Sample_Barcode":"TCGA-NJ-A4YQ-01A-11D-A25L-08","Matched_Norm_Sample_Barcode":"TCGA-NJ-A4YQ-10A-01D-A25L-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"030aefdc-9ee8-4740-85ed-8c380265437a","Matched_Norm_Sample_UUID":"986b23fa-8ddd-45da-a28b-97c5ea6f69cd","HGVSc":"c.491A>G","HGVSp":"p.Tyr164Cys","HGVSp_Short":"p.Y164C","Transcript_ID":"ENST00000265881","Exon_Number":"5/7","t_depth":212,"t_ref_count":178,"t_alt_count":34,"n_depth":170,"all_effects":"REXO2,missense_variant,p.Y164C,ENST00000265881,NM_015523.4,c.491A>G,MODERATE,YES,deleterious(0),probably_damaging(0.994),1;REXO2,missense_variant,p.Y115C,ENST00000544827,,c.344A>G,MODERATE,,deleterious(0),probably_damaging(0.994),1;REXO2,missense_variant,p.Y149C,ENST00000539754,,c.446A>G,MODERATE,,deleterious(0),probably_damaging(0.997),1;REXO2,missense_variant,p.Y119C,ENST00000539119,,c.356A>G,MODERATE,,deleterious(0),possibly_damaging(0.882),1;REXO2,intron_variant,,ENST00000539275,,c.232-3798A>G,MODIFIER,,,,1;REXO2,downstream_gene_variant,,ENST00000544196,,,MODIFIER,,,,1;REXO2,non_coding_transcript_exon_variant,,ENST00000538403,,n.240A>G,MODIFIER,,,,1;REXO2,non_coding_transcript_exon_variant,,ENST00000539788,,n.113A>G,MODIFIER,,,,1;REXO2,upstream_gene_variant,,ENST00000544507,,,MODIFIER,,,,1;REXO2,3_prime_UTR_variant,,ENST00000546316,,c.*13A>G,MODIFIER,,,,1;REXO2,3_prime_UTR_variant,,ENST00000543131,,c.*13A>G,MODIFIER,,,,1;REXO2,3_prime_UTR_variant,,ENST00000541703,,c.*13A>G,MODIFIER,,,,1;REXO2,3_prime_UTR_variant,,ENST00000538198,,c.*13A>G,MODIFIER,,,,1;REXO2,non_coding_transcript_exon_variant,,ENST00000540492,,n.931A>G,MODIFIER,,,,1;REXO2,non_coding_transcript_exon_variant,,ENST00000538791,,n.568A>G,MODIFIER,,,,1;REXO2,non_coding_transcript_exon_variant,,ENST00000539333,,n.342A>G,MODIFIER,,,,1;REXO2,downstream_gene_variant,,ENST00000542186,,,MODIFIER,,,,1;REXO2,downstream_gene_variant,,ENST00000544010,,,MODIFIER,,,,1;AP002373.1,downstream_gene_variant,,ENST00000544347,,,MODIFIER,YES,,,1","Allele":"G","Gene":"ENSG00000076043","Feature":"ENST00000265881","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"553/1080","CDS_position":"491/714","Protein_position":"164/237","Amino_acids":"Y/C","Codons":"tAt/tGt","Existing_variation":"COSV99771720","TRANSCRIPT_STRAND":1,"SYMBOL":"REXO2","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:17851","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS8371.1","ENSP":"ENSP00000265881","SWISSPROT":"Q9Y3B8.171","UNIPARC":"UPI000013D69D","UNIPROT_ISOFORM":"Q9Y3B8-1","RefSeq":"NM_015523.4","MANE":"NM_015523.4","APPRIS":"P1","SIFT":"deleterious(0)","PolyPhen":"probably_damaging(0.994)","EXON":"5/7","DOMAINS":"PDB-ENSP_mappings:6j7y.A;PDB-ENSP_mappings:6j7y.B;PDB-ENSP_mappings:6j7z.A;PDB-ENSP_mappings:6j7z.B;PDB-ENSP_mappings:6j80.A;PDB-ENSP_mappings:6j80.B;PDB-ENSP_mappings:6n6i.A;PDB-ENSP_mappings:6n6i.B;PDB-ENSP_mappings:6n6j.A;PDB-ENSP_mappings:6n6j.B;PDB-ENSP_mappings:6n6k.A;PDB-ENSP_mappings:6n6k.B;PDB-ENSP_mappings:6rci.A;PDB-ENSP_mappings:6rci.B;PDB-ENSP_mappings:6rcl.A;PDB-ENSP_mappings:6rcl.B;PDB-ENSP_mappings:6rcn.A;PDB-ENSP_mappings:6rcn.B;PDB-ENSP_mappings:6sty.A;PDB-ENSP_mappings:6sty.B;PDB-ENSP_mappings:6sty.D;PDB-ENSP_mappings:6sty.E;HAMAP:MF_00045;CDD:cd06135;PANTHER:PTHR11046:SF0;PANTHER:PTHR11046;Pfam:PF00929;Gene3D:3.30.420.10;SMART:SM00479;Superfamily:SSF53098","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","CONTEXT":"TCATTATAGAA","tumor_bam_uuid":"f92c7033-1999-429c-9146-7cc868bd90de","normal_bam_uuid":"47a1ed88-3bfe-497e-aa70-9893b5c1275a","case_id":"52df074f-a402-4b78-9472-f8eb268efded","hotspot":"N","RNA_Support":"Unknown","callers":"muse;varscan2"}
{"X1":"15","Hugo_Symbol":"AATF","Entrez_Gene_Id":26574,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr17","Start_Position":36952939,"End_Position":36952939,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"T","dbSNP_RS":"novel","Tumor_Sample_Barcode":"TCGA-86-6851-01A-11D-1945-08","Matched_Norm_Sample_Barcode":"TCGA-86-6851-10A-01D-1946-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"f5a79ea9-4b65-4e69-bed1-79919e2639d7","Matched_Norm_Sample_UUID":"4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc","HGVSc":"c.337G>T","HGVSp":"p.Gly113Cys","HGVSp_Short":"p.G113C","Transcript_ID":"ENST00000619387","Exon_Number":"3/12","t_depth":89,"t_ref_count":72,"t_alt_count":17,"n_depth":114,"all_effects":"AATF,missense_variant,p.G113C,ENST00000619387,NM_012138.4,c.337G>T,MODERATE,YES,deleterious(0),benign(0.007),1;AATF,intron_variant,,ENST00000613840,,c.143-859G>T,MODIFIER,,,,1","Allele":"T","Gene":"ENSG00000275700","Feature":"ENST00000619387","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"509/2062","CDS_position":"337/1683","Protein_position":"113/560","Amino_acids":"G/C","Codons":"Ggt/Tgt","TRANSCRIPT_STRAND":1,"SYMBOL":"AATF","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:19235","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS32632.1","ENSP":"ENSP00000477848","SWISSPROT":"Q9NY61.165","UNIPARC":"UPI000006E3DE","RefSeq":"NM_012138.4","MANE":"NM_012138.4","APPRIS":"P1","SIFT":"deleterious(0)","PolyPhen":"benign(0.007)","EXON":"3/12","DOMAINS":"PANTHER:PTHR15565;PANTHER:PTHR15565:SF0;MobiDB_lite:mobidb-lite;MobiDB_lite:mobidb-lite;Low_complexity_(Seg):seg","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"CONTEXT":"GACTGGGTCTG","tumor_bam_uuid":"233b7002-59ea-46a1-96d9-789fed70061f","normal_bam_uuid":"59fecb9a-c420-4e98-807a-27c5703246f8","case_id":"035c0b2b-c722-443b-8962-db4ee92c7532","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"604","Hugo_Symbol":"MECP2","Entrez_Gene_Id":4204,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chrX","Start_Position":154097637,"End_Position":154097637,"Strand":"+","Variant_Classification":"5'UTR","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-78-7220-01A-11D-2036-08","Matched_Norm_Sample_Barcode":"TCGA-78-7220-10A-01D-2036-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"4875f5f5-61f6-47fb-8ffe-f28ed945c5d2","Matched_Norm_Sample_UUID":"87da45d5-2771-42ed-93e3-b9f5ea2d2d72","HGVSc":"c.-132G>T","Transcript_ID":"ENST00000303391","Exon_Number":"1/4","t_depth":24,"t_ref_count":14,"t_alt_count":10,"n_depth":24,"all_effects":"MECP2,missense_variant,p.S10I,ENST00000453960,NM_001110792.2&NM_001369393.2,c.29G>T,MODERATE,YES,deleterious_low_confidence(0),possibly_damaging(0.883),-1;MECP2,missense_variant,p.S10I,ENST00000407218,,c.29G>T,MODERATE,,deleterious_low_confidence(0),possibly_damaging(0.883),-1;MECP2,5_prime_UTR_variant,,ENST00000303391,NM_001369391.2&NM_004992.4&NM_001369392.2&NM_001316337.2,c.-132G>T,MODIFIER,,,,-1;MECP2,5_prime_UTR_variant,,ENST00000628176,,c.-132G>T,MODIFIER,,,,-1;MECP2,upstream_gene_variant,,ENST00000415944,,,MODIFIER,,,,-1;MECP2,upstream_gene_variant,,ENST00000630151,,,MODIFIER,,,,-1;MECP2,non_coding_transcript_exon_variant,,ENST00000627864,,n.44G>T,MODIFIER,,,,-1;MECP2,intron_variant,,ENST00000631210,,n.305+7144G>T,MODIFIER,,,,-1;MECP2,upstream_gene_variant,,ENST00000496908,,,MODIFIER,,,,-1;MECP2,upstream_gene_variant,,ENST00000637467,,,MODIFIER,,,,-1;MECP2,upstream_gene_variant,,ENST00000637533,,,MODIFIER,,,,-1;MECP2,upstream_gene_variant,,ENST00000676382,,,MODIFIER,,,,-1;MECP2,5_prime_UTR_variant,,ENST00000369957,,c.-132G>T,MODIFIER,,,,-1;MECP2,upstream_gene_variant,,ENST00000629277,,,MODIFIER,,,,-1","Allele":"A","Gene":"ENSG00000169057","Feature":"ENST00000303391","Feature_type":"Transcript","One_Consequence":"5_prime_UTR_variant","Consequence":"5_prime_UTR_variant","cDNA_position":"81/10467","Existing_variation":"COSV100318479","TRANSCRIPT_STRAND":-1,"SYMBOL":"MECP2","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:6990","BIOTYPE":"protein_coding","CCDS":"CCDS14741.1","ENSP":"ENSP00000301948","SWISSPROT":"P51608.235","TREMBL":"D3YJ43.88","UNIPARC":"UPI000012EEA5","UNIPROT_ISOFORM":"P51608-1","RefSeq":"NM_001369391.2;NM_004992.4;NM_001369392.2;NM_001316337.2","APPRIS":"P2","EXON":"1/4","SOMATIC":"1","IMPACT":"MODIFIER","VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","GENE_PHENO":"1","CONTEXT":"CTCCGCTCGGC","tumor_bam_uuid":"95331c76-6de0-454a-a1cf-6239129194fa","normal_bam_uuid":"c1c72029-1e57-4888-ad84-4ce9f127e45d","case_id":"fd5c44ef-ea50-4fba-9e8d-e371cf34ebdb","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"2","Hugo_Symbol":"TTN","Entrez_Gene_Id":7273,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr2","Start_Position":178747192,"End_Position":178747192,"Strand":"+","Variant_Classification":"Intron","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"C","dbSNP_RS":"novel","Tumor_Sample_Barcode":"TCGA-17-Z055-01A-01W-0747-08","Matched_Norm_Sample_Barcode":"TCGA-17-Z055-11A-01W-0747-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"de78326d-3afc-4f29-af7f-1750da544826","Matched_Norm_Sample_UUID":"548b12ac-2ba9-40e1-9299-8bfed3d5765b","HGVSc":"c.10361-5271C>G","Transcript_ID":"ENST00000591111","t_depth":248,"t_ref_count":238,"t_alt_count":10,"n_depth":290,"all_effects":"TTN,missense_variant,p.L5070V,ENST00000360870,NM_133379.5,c.15208C>G,MODERATE,,tolerated_low_confidence(0.19),benign(0.015),-1;TTN,intron_variant,,ENST00000342175,NM_133437.4,c.10799-5271C>G,MODIFIER,,,,-1;TTN,intron_variant,,ENST00000342992,NM_133378.4&NM_001256850.1,c.10360+5932C>G,MODIFIER,,,,-1;TTN,intron_variant,,ENST00000359218,NM_133432.3,c.10598-5271C>G,MODIFIER,,,,-1;TTN,intron_variant,,ENST00000460472,NM_003319.4,c.10223-5271C>G,MODIFIER,,,,-1;TTN,intron_variant,,ENST00000589042,NM_001267550.2,c.11312-5271C>G,MODIFIER,YES,,,-1;TTN,intron_variant,,ENST00000591111,,c.10361-5271C>G,MODIFIER,,,,-1;TTN-AS1,intron_variant,,ENST00000578746,,n.64+2350G>C,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000582847,,n.1036+4222G>C,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000585451,,n.199-13748G>C,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000590773,,n.1526+4222G>C,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000627661,,n.587+4222G>C,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000653807,,n.1258+4222G>C,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000657023,,n.764+4222G>C,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000659121,,n.1223+4222G>C,MODIFIER,YES,,,1;TTN-AS1,downstream_gene_variant,,ENST00000631319,,,MODIFIER,,,,1","Allele":"C","Gene":"ENSG00000155657","Feature":"ENST00000591111","Feature_type":"Transcript","One_Consequence":"intron_variant","Consequence":"intron_variant","TRANSCRIPT_STRAND":-1,"SYMBOL":"TTN","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:12403","BIOTYPE":"protein_coding","ENSP":"ENSP00000465570","SWISSPROT":"Q8WZ42.192","UNIPARC":"UPI00025287CD","UNIPROT_ISOFORM":"Q8WZ42-1","INTRON":"45/312","IMPACT":"MODIFIER","VARIANT_CLASS":"SNV","TSL":5,"GENE_PHENO":"1","CONTEXT":"CTCTAGAGTCT","tumor_bam_uuid":"f19b34fe-bb1f-4baa-9204-1be4f90798c8","normal_bam_uuid":"cc495fa5-d2cc-4fd7-a6f6-26d9aa25a766","case_id":"07119baf-64a7-454c-b1b0-c769b506a63d","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2"}
{"X1":"451","Hugo_Symbol":"ZNF75D","Entrez_Gene_Id":7626,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chrX","Start_Position":135291508,"End_Position":135291508,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-05-4397-01A-01D-1265-08","Matched_Norm_Sample_Barcode":"TCGA-05-4397-10A-01D-1265-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"4b7be121-49af-4a44-95dd-0a487d47228f","Matched_Norm_Sample_UUID":"abaccb0a-5f60-45d6-aea2-6fb33a82b011","HGVSc":"c.660G>T","HGVSp":"p.Trp220Cys","HGVSp_Short":"p.W220C","Transcript_ID":"ENST00000370766","Exon_Number":"5/7","t_depth":68,"t_ref_count":9,"t_alt_count":59,"n_depth":35,"all_effects":"ZNF75D,missense_variant,p.W220C,ENST00000370766,NM_007131.5,c.660G>T,MODERATE,YES,tolerated(0.06),benign(0.014),-1;ZNF75D,intron_variant,,ENST00000370764,NM_001185063.2,c.412-373G>T,MODIFIER,,,,-1;ZNF75D,non_coding_transcript_exon_variant,,ENST00000469456,,n.96G>T,MODIFIER,,,,-1;ZNF75D,intron_variant,,ENST00000494295,,n.828-35731G>T,MODIFIER,,,,-1","Allele":"A","Gene":"ENSG00000186376","Feature":"ENST00000370766","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"3392/5611","CDS_position":"660/1533","Protein_position":"220/510","Amino_acids":"W/C","Codons":"tgG/tgT","Existing_variation":"COSV66132978","TRANSCRIPT_STRAND":-1,"SYMBOL":"ZNF75D","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:13145","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS14648.1","ENSP":"ENSP00000359802","SWISSPROT":"P51815.179","UNIPARC":"UPI000022DD3A","UNIPROT_ISOFORM":"P51815-1","RefSeq":"NM_007131.5","MANE":"NM_007131.5","APPRIS":"P4","SIFT":"tolerated(0.06)","PolyPhen":"benign(0.014)","EXON":"5/7","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","CONTEXT":"ATCTTCCAGTG","tumor_bam_uuid":"539739e4-b59c-49ef-a7a5-3d597dd16ce4","normal_bam_uuid":"27b8d631-9c36-467c-a49a-d278004e906e","case_id":"6dfd47d2-831a-4386-9051-f78199a16bb5","COSMIC":"COSM6117721","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"531","Hugo_Symbol":"FYN","Entrez_Gene_Id":2534,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr6","Start_Position":111702898,"End_Position":111702898,"Strand":"+","Variant_Classification":"Silent","Variant_Type":"SNP","Reference_Allele":"T","Tumor_Seq_Allele1":"T","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-91-6831-01A-11D-1855-08","Matched_Norm_Sample_Barcode":"TCGA-91-6831-11A-02D-1855-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"1624af6f-05a6-474c-ba49-9754938979c6","Matched_Norm_Sample_UUID":"e276abe0-5a45-458f-abe9-6ab62a4d9c36","HGVSc":"c.684A>T","HGVSp":"p.Val228=","HGVSp_Short":"p.V228=","Transcript_ID":"ENST00000354650","Exon_Number":"8/14","t_depth":48,"t_ref_count":24,"t_alt_count":24,"n_depth":65,"all_effects":"FYN,synonymous_variant,p.V228=,ENST00000354650,NM_002037.5,c.684A>T,LOW,YES,,,-1;FYN,synonymous_variant,p.V228=,ENST00000368682,NM_153047.4,c.684A>T,LOW,,,,-1;FYN,synonymous_variant,p.V228=,ENST00000538466,,c.684A>T,LOW,,,,-1;FYN,synonymous_variant,p.V228=,ENST00000368678,,c.684A>T,LOW,,,,-1;FYN,synonymous_variant,p.V228=,ENST00000368667,NM_001370529.1,c.684A>T,LOW,,,,-1;FYN,synonymous_variant,p.V228=,ENST00000229471,NM_153048.3,c.684A>T,LOW,,,,-1;FYN,synonymous_variant,p.V228=,ENST00000462856,,c.684A>T,LOW,,,,-1;FYN,downstream_gene_variant,,ENST00000517419,,,MODIFIER,,,,-1;FYN,downstream_gene_variant,,ENST00000518295,,,MODIFIER,,,,-1;FYN,downstream_gene_variant,,ENST00000520518,,,MODIFIER,,,,-1;FYN,downstream_gene_variant,,ENST00000523238,,,MODIFIER,,,,-1;FYN,non_coding_transcript_exon_variant,,ENST00000476769,,n.458A>T,MODIFIER,,,,-1;FYN,non_coding_transcript_exon_variant,,ENST00000523322,,n.889A>T,MODIFIER,,,,-1;FYN,non_coding_transcript_exon_variant,,ENST00000496864,,n.486A>T,MODIFIER,,,,-1;FYN,non_coding_transcript_exon_variant,,ENST00000495927,,n.273A>T,MODIFIER,,,,-1;FYN,non_coding_transcript_exon_variant,,ENST00000467899,,n.547A>T,MODIFIER,,,,-1;FYN,non_coding_transcript_exon_variant,,ENST00000495935,,n.89A>T,MODIFIER,,,,-1","Allele":"A","Gene":"ENSG00000010810","Feature":"ENST00000354650","Feature_type":"Transcript","One_Consequence":"synonymous_variant","Consequence":"synonymous_variant","cDNA_position":"1291/3628","CDS_position":"684/1614","Protein_position":"228/537","Amino_acids":"V","Codons":"gtA/gtT","Existing_variation":"COSV57614275","TRANSCRIPT_STRAND":-1,"SYMBOL":"FYN","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:4037","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS5094.1","ENSP":"ENSP00000346671","SWISSPROT":"P06241.252","UNIPARC":"UPI0000141141","UNIPROT_ISOFORM":"P06241-1","RefSeq":"NM_002037.5","MANE":"NM_002037.5","APPRIS":"P3","EXON":"8/14","DOMAINS":"PDB-ENSP_mappings:1aot.F;PDB-ENSP_mappings:1aou.F;PDB-ENSP_mappings:1g83.A;PDB-ENSP_mappings:1g83.B;PDB-ENSP_mappings:2mqi.A;PDB-ENSP_mappings:2mrj.A;PDB-ENSP_mappings:2mrk.A;PDB-ENSP_mappings:4u17.A;PDB-ENSP_mappings:4u17.B;PDB-ENSP_mappings:4u17.C;PDB-ENSP_mappings:4u1p.A;Prints:PR00401;PANTHER:PTHR24418;PANTHER:PTHR24418:SF44;PROSITE_profiles:PS50001;Superfamily:SSF55550;SMART:SM00252;Pfam:PF00017;Gene3D:3.30.505.10;CDD:cd10418","SOMATIC":"1","IMPACT":"LOW","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","CONTEXT":"TGTTGTACAAG","tumor_bam_uuid":"059af745-2e41-4fff-befe-dac11bc94a6f","normal_bam_uuid":"88dafbcb-9833-4747-a685-8509b52c83ce","case_id":"db0b9e63-4272-4f29-bf0e-1ec0fe79a9d7","COSMIC":"COSM6104867;COSM6104868","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"526","Hugo_Symbol":"MTFR2","Entrez_Gene_Id":113115,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr6","Start_Position":136241612,"End_Position":136241612,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-62-A46O-01A-11D-A24D-08","Matched_Norm_Sample_Barcode":"TCGA-62-A46O-10A-01D-A24F-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"ff9ce3ef-d0d4-45b0-a506-e87732d1480e","Matched_Norm_Sample_UUID":"4fb194cb-66e6-484e-b119-b27f5cf8e487","HGVSc":"c.346G>T","HGVSp":"p.Asp116Tyr","HGVSp_Short":"p.D116Y","Transcript_ID":"ENST00000420702","Exon_Number":"5/8","t_depth":27,"t_ref_count":13,"t_alt_count":14,"n_depth":53,"all_effects":"MTFR2,missense_variant,p.D116Y,ENST00000420702,NM_001099286.3,c.346G>T,MODERATE,YES,tolerated(0.07),possibly_damaging(0.574),-1;MTFR2,missense_variant,p.D116Y,ENST00000451457,NM_138419.5&NM_001318738.2,c.346G>T,MODERATE,,tolerated(0.07),possibly_damaging(0.574),-1;MTFR2,missense_variant,p.D73Y,ENST00000418509,,c.217G>T,MODERATE,,tolerated(0.05),possibly_damaging(0.574),-1;MTFR2,upstream_gene_variant,,ENST00000532958,,,MODIFIER,,,,-1;MTFR2,3_prime_UTR_variant,,ENST00000367784,,c.*311G>T,MODIFIER,,,,-1","Allele":"A","Gene":"ENSG00000146410","Feature":"ENST00000420702","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"736/1789","CDS_position":"346/1158","Protein_position":"116/385","Amino_acids":"D/Y","Codons":"Gat/Tat","Existing_variation":"COSV100886641","TRANSCRIPT_STRAND":-1,"SYMBOL":"MTFR2","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:21115","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS5176.1","ENSP":"ENSP00000395232","SWISSPROT":"Q6P444.123","UNIPARC":"UPI000004FA2A","UNIPROT_ISOFORM":"Q6P444-1","RefSeq":"NM_001099286.3","MANE":"NM_001099286.3","APPRIS":"P1","SIFT":"tolerated(0.07)","PolyPhen":"possibly_damaging(0.574)","EXON":"5/8","DOMAINS":"PANTHER:PTHR14215;PANTHER:PTHR14215:SF2;Pfam:PF05308","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":2,"PHENO":"1","CONTEXT":"TGGATCCCGAA","tumor_bam_uuid":"bd40159e-39f2-452f-b9a3-b25f9dfc31b7","normal_bam_uuid":"81f053ce-3443-4a62-9615-08e9ca5ebeae","case_id":"d7ae8efb-aa4d-4807-9772-55b0a28ccd5c","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"159","Hugo_Symbol":"ARHGAP4","Entrez_Gene_Id":393,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chrX","Start_Position":153910585,"End_Position":153910585,"Strand":"+","Variant_Classification":"Nonsense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-95-7043-01A-11D-1945-08","Matched_Norm_Sample_Barcode":"TCGA-95-7043-10A-01D-1946-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"86040fdc-caa7-4c13-af9c-c3f78b79930f","Matched_Norm_Sample_UUID":"7a16b2f7-cb45-4f60-a779-4455e89b1f1e","HGVSc":"c.1843G>T","HGVSp":"p.Glu615Ter","HGVSp_Short":"p.E615*","Transcript_ID":"ENST00000350060","Exon_Number":"16/22","t_depth":50,"t_ref_count":33,"t_alt_count":17,"n_depth":18,"all_effects":"ARHGAP4,stop_gained,p.E655*,ENST00000370028,NM_001164741.2,c.1963G>T,HIGH,YES,,,-1;ARHGAP4,stop_gained,p.E615*,ENST00000350060,NM_001666.5,c.1843G>T,HIGH,,,,-1;ARHGAP4,stop_gained,p.E594*,ENST00000370016,,c.1780G>T,HIGH,,,,-1;ARHGAP4,stop_gained,p.E437*,ENST00000393721,,c.1309G>T,HIGH,,,,-1;ARHGAP4,stop_gained,p.E104*,ENST00000442172,,c.310G>T,HIGH,,,,-1;ARHGAP4,stop_gained,p.E115*,ENST00000454164,,c.343G>T,HIGH,,,,-1;AVPR2,downstream_gene_variant,,ENST00000337474,,,MODIFIER,,,,1;AVPR2,downstream_gene_variant,,ENST00000370049,NM_001146151.3,,MODIFIER,,,,1;ARHGAP4,downstream_gene_variant,,ENST00000422918,,,MODIFIER,,,,-1;AVPR2,downstream_gene_variant,,ENST00000430697,,,MODIFIER,YES,,,1;AVPR2,downstream_gene_variant,,ENST00000646375,NM_000054.6,,MODIFIER,,,,1;ARHGAP4,non_coding_transcript_exon_variant,,ENST00000467421,,n.199G>T,MODIFIER,,,,-1;ARHGAP4,3_prime_UTR_variant,,ENST00000404127,,c.*1217G>T,MODIFIER,,,,-1;ARHGAP4,non_coding_transcript_exon_variant,,ENST00000470209,,n.1616G>T,MODIFIER,,,,-1;ARHGAP4,non_coding_transcript_exon_variant,,ENST00000494302,,n.1394G>T,MODIFIER,,,,-1;ARHGAP4,non_coding_transcript_exon_variant,,ENST00000494397,,n.339G>T,MODIFIER,,,,-1;ARHGAP4,intron_variant,,ENST00000420383,,c.1738+115G>T,MODIFIER,,,,-1;AVPR2,downstream_gene_variant,,ENST00000434679,,,MODIFIER,,,,1;ARHGAP4,upstream_gene_variant,,ENST00000461739,,,MODIFIER,,,,-1;ARHGAP4,downstream_gene_variant,,ENST00000463905,,,MODIFIER,,,,-1;U52112.1,upstream_gene_variant,,ENST00000464967,,,MODIFIER,,,,-1;ARHGAP4,upstream_gene_variant,,ENST00000466928,,,MODIFIER,,,,-1;ARHGAP4,downstream_gene_variant,,ENST00000494813,,,MODIFIER,,,,-1;U52112.1,upstream_gene_variant,,ENST00000642393,,,MODIFIER,,,,-1;U52112.1,upstream_gene_variant,,ENST00000646191,,,MODIFIER,YES,,,-1","Allele":"A","Gene":"ENSG00000089820","Feature":"ENST00000350060","Feature_type":"Transcript","One_Consequence":"stop_gained","Consequence":"stop_gained","cDNA_position":"1905/3254","CDS_position":"1843/2841","Protein_position":"615/946","Amino_acids":"E/*","Codons":"Gag/Tag","Existing_variation":"COSV61686180","TRANSCRIPT_STRAND":-1,"SYMBOL":"ARHGAP4","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:674","BIOTYPE":"protein_coding","CCDS":"CCDS14736.1","ENSP":"ENSP00000203786","SWISSPROT":"P98171.185","UNIPARC":"UPI000013C648","UNIPROT_ISOFORM":"P98171-1","RefSeq":"NM_001666.5","MANE":"NM_001666.5","APPRIS":"A2","EXON":"16/22","DOMAINS":"PROSITE_profiles:PS50238;PANTHER:PTHR14166:SF16;PANTHER:PTHR14166;Pfam:PF00620;Gene3D:1.10.555.10;SMART:SM00324;Superfamily:SSF48350","SOMATIC":"1","IMPACT":"HIGH","VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","CONTEXT":"GTGCTCCACCC","tumor_bam_uuid":"c903dfd7-c694-4941-880a-9d82737f919e","normal_bam_uuid":"08cc6968-549a-44e2-9ae2-394b37ed8b27","case_id":"c650b1ff-8a4c-4ee9-b7c1-268c28c83827","COSMIC":"COSM6186084;COSM6186085","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"5","Hugo_Symbol":"LILRB4","Entrez_Gene_Id":11006,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr19","Start_Position":54663541,"End_Position":54663541,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"T","Tumor_Seq_Allele1":"T","Tumor_Seq_Allele2":"C","dbSNP_RS":"rs1453153837","Tumor_Sample_Barcode":"TCGA-86-8674-01A-21D-2393-08","Matched_Norm_Sample_Barcode":"TCGA-86-8674-10A-01D-2393-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"5b63102c-8d78-4d50-b8cb-21114333de7c","Matched_Norm_Sample_UUID":"4e7f3670-9963-44ad-8c4b-f0c07720656c","HGVSc":"c.44T>C","HGVSp":"p.Leu15Pro","HGVSp_Short":"p.L15P","Transcript_ID":"ENST00000391733","Exon_Number":"2/12","t_depth":112,"t_ref_count":89,"t_alt_count":23,"n_depth":121,"all_effects":"LILRB4,missense_variant,p.L15P,ENST00000391736,NM_001278426.3,c.44T>C,MODERATE,,deleterious_low_confidence(0.01),probably_damaging(0.988),1;LILRB4,missense_variant,p.L15P,ENST00000430952,NM_001278427.3,c.44T>C,MODERATE,,deleterious(0.02),probably_damaging(0.923),1;LILRB4,missense_variant,p.L15P,ENST00000391733,NM_001278428.3&NM_001278429.3,c.44T>C,MODERATE,YES,deleterious_low_confidence(0.01),probably_damaging(0.977),1;LILRB4,missense_variant,p.L15P,ENST00000391734,,c.44T>C,MODERATE,,deleterious(0.02),probably_damaging(0.999),1;LILRB4,missense_variant,p.L15P,ENST00000434286,,c.44T>C,MODERATE,,deleterious(0.01),probably_damaging(0.991),1;LILRB4,missense_variant,p.L56P,ENST00000270452,,c.167T>C,MODERATE,,deleterious(0),probably_damaging(1),1;LILRB4,upstream_gene_variant,,ENST00000461262,,,MODIFIER,,,,1;LILRB4,intron_variant,,ENST00000494796,,c.158-293T>C,MODIFIER,,,,1;LILRB4,upstream_gene_variant,,ENST00000470943,,,MODIFIER,,,,1","Allele":"C","Gene":"ENSG00000186818","Feature":"ENST00000391733","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"58/1742","CDS_position":"44/1350","Protein_position":"15/449","Amino_acids":"L/P","Codons":"cTg/cCg","Existing_variation":"rs1453153837;COSV99553680","TRANSCRIPT_STRAND":1,"SYMBOL":"LILRB4","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:6608","BIOTYPE":"protein_coding","CANONICAL":"YES","ENSP":"ENSP00000375613","TREMBL":"A0A0A0MS20.39","UNIPARC":"UPI00034F23B4","RefSeq":"NM_001278428.3;NM_001278429.3","APPRIS":"A2","SIFT":"deleterious_low_confidence(0.01)","PolyPhen":"probably_damaging(0.977)","EXON":"2/12","DOMAINS":"Cleavage_site_(Signalp):SignalP-noTM;PANTHER:PTHR11738;PANTHER:PTHR11738:SF30","gnomAD_AF":"3.977e-06","gnomAD_AFR_AF":"6.155e-05","gnomAD_AMR_AF":"0","gnomAD_ASJ_AF":"0","gnomAD_EAS_AF":"0","gnomAD_FIN_AF":"0","gnomAD_NFE_AF":"0","gnomAD_OTH_AF":"0","gnomAD_SAS_AF":"0","MAX_AF":"6.155e-05","MAX_AF_POPS":"gnomAD_AFR","gnomAD_non_cancer_AF":"6.79375989420805e-06","gnomAD_non_cancer_AFR_AF":"2.44870007009013e-05","gnomAD_non_cancer_AMI_AF":"0","gnomAD_non_cancer_AMR_AF":"0","gnomAD_non_cancer_ASJ_AF":"0","gnomAD_non_cancer_EAS_AF":"0","gnomAD_non_cancer_FIN_AF":"0","gnomAD_non_cancer_MID_AF":"0","gnomAD_non_cancer_NFE_AF":"0","gnomAD_non_cancer_OTH_AF":"0","gnomAD_non_cancer_SAS_AF":"0","SOMATIC":"0;1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":5,"PHENO":"0;1","CONTEXT":"GAGTCTGGGCC","tumor_bam_uuid":"720238be-5a1b-4490-9397-5695c4b21550","normal_bam_uuid":"f97360f9-2595-4a1c-a6e2-035042047830","case_id":"0a1eea76-e19a-4547-9b24-abf7051cc4db","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"30","Hugo_Symbol":"CREM","Entrez_Gene_Id":1390,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr10","Start_Position":35148405,"End_Position":35148405,"Strand":"+","Variant_Classification":"Nonsense_Mutation","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"T","Tumor_Sample_Barcode":"TCGA-64-1679-01A-21D-2063-08","Matched_Norm_Sample_Barcode":"TCGA-64-1679-10A-01D-2063-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"529d953a-880b-4dd4-a6aa-c09c8c89d980","Matched_Norm_Sample_UUID":"510b548e-4350-45c8-889d-8930c2f20f9c","HGVSc":"c.34G>T","HGVSp":"p.Gly12Ter","HGVSp_Short":"p.G12*","Transcript_ID":"ENST00000429130","Exon_Number":"3/10","t_depth":103,"t_ref_count":93,"t_alt_count":10,"n_depth":82,"all_effects":"CREM,stop_gained,p.G28*,ENST00000439705,,c.82G>T,HIGH,,,,1;CREM,stop_gained,p.G28*,ENST00000345491,NM_181571.3,c.82G>T,HIGH,,,,1;CREM,stop_gained,p.G12*,ENST00000374721,,c.34G>T,HIGH,,,,1;CREM,stop_gained,p.G12*,ENST00000374728,NM_183060.2,c.34G>T,HIGH,,,,1;CREM,stop_gained,p.G12*,ENST00000348787,,c.34G>T,HIGH,,,,1;CREM,stop_gained,p.G28*,ENST00000354759,NM_183013.3,c.82G>T,HIGH,,,,1;CREM,stop_gained,p.G12*,ENST00000429130,,c.34G>T,HIGH,YES,,,1;CREM,stop_gained,p.G12*,ENST00000374726,NM_001881.3,c.34G>T,HIGH,,,,1;CREM,stop_gained,p.G28*,ENST00000479070,,c.82G>T,HIGH,,,,1;CREM,stop_gained,p.G28*,ENST00000337656,NM_183011.1,c.82G>T,HIGH,,,,1;CREM,stop_gained,p.G12*,ENST00000489321,,c.34G>T,HIGH,,,,1;CREM,stop_gained,p.G12*,ENST00000469949,,c.34G>T,HIGH,,,,1;CREM,stop_gained,p.G28*,ENST00000374734,NM_183012.1,c.82G>T,HIGH,,,,1;CREM,stop_gained,p.G12*,ENST00000487132,,c.34G>T,HIGH,,,,1;CREM,stop_gained,p.G28*,ENST00000427847,,c.82G>T,HIGH,,,,1;CREM,intron_variant,,ENST00000460270,NM_001352467.2&NM_001352466.2,c.-15+21212G>T,MODIFIER,,,,1;CREM,intron_variant,,ENST00000474362,NM_001267563.2&NM_001352465.2&NM_001352446.1,c.-15+21212G>T,MODIFIER,,,,1;CREM,non_coding_transcript_exon_variant,,ENST00000482646,,n.457G>T,MODIFIER,,,,1;CREM,non_coding_transcript_exon_variant,,ENST00000496626,,n.391G>T,MODIFIER,,,,1;CREM,non_coding_transcript_exon_variant,,ENST00000466251,,n.341G>T,MODIFIER,,,,1;CREM,intron_variant,,ENST00000461968,,n.246+21212G>T,MODIFIER,,,,1;CREM,intron_variant,,ENST00000489388,,n.288+21212G>T,MODIFIER,,,,1;CREM,intron_variant,,ENST00000496019,,n.136+10526G>T,MODIFIER,,,,1;CREM,stop_gained,p.G12*,ENST00000490460,,c.34G>T,HIGH,,,,1;CREM,stop_gained,p.G12*,ENST00000495960,,c.34G>T,HIGH,,,,1;CREM,stop_gained,p.G3*,ENST00000464475,,c.7G>T,HIGH,,,,1;CREM,intron_variant,,ENST00000482633,,n.146+21212G>T,MODIFIER,,,,1","Allele":"T","Gene":"ENSG00000095794","Feature":"ENST00000429130","Feature_type":"Transcript","One_Consequence":"stop_gained","Consequence":"stop_gained","cDNA_position":"239/1476","CDS_position":"34/1038","Protein_position":"12/345","Amino_acids":"G/*","Codons":"Gga/Tga","Existing_variation":"COSV100415367","TRANSCRIPT_STRAND":1,"SYMBOL":"CREM","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:2352","BIOTYPE":"protein_coding","CANONICAL":"YES","ENSP":"ENSP00000393538","SWISSPROT":"Q03060.197","UNIPARC":"UPI00014F7ACB","UNIPROT_ISOFORM":"Q03060-5","EXON":"3/10","DOMAINS":"PANTHER:PTHR45879;PANTHER:PTHR45879:SF4","SOMATIC":"1","IMPACT":"HIGH","PICK":1,"VARIANT_CLASS":"SNV","TSL":5,"PHENO":"1","CONTEXT":"ATGATGGAAGT","tumor_bam_uuid":"e84ea93a-079b-47a6-95f7-e533bcf9cd35","normal_bam_uuid":"a479eb9f-9405-43ee-8e98-fae7dbab5b4e","case_id":"81a0b2ff-a3d3-41bb-9ce6-765e6ae894af","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"294","Hugo_Symbol":"PARP16","Entrez_Gene_Id":54956,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr15","Start_Position":65266676,"End_Position":65266676,"Strand":"+","Variant_Classification":"Silent","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"A","dbSNP_RS":"rs891750608","Tumor_Sample_Barcode":"TCGA-05-4398-01A-01D-1265-08","Matched_Norm_Sample_Barcode":"TCGA-05-4398-10A-01D-1265-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"9e4b2be6-e149-4c22-93e1-512c3c6bbea8","Matched_Norm_Sample_UUID":"27409a77-e75c-421e-9540-b45e9b98c73e","HGVSc":"c.405C>T","HGVSp":"p.Asn135=","HGVSp_Short":"p.N135=","Transcript_ID":"ENST00000261888","Exon_Number":"3/6","t_depth":73,"t_ref_count":51,"t_alt_count":22,"n_depth":75,"all_effects":"PARP16,synonymous_variant,p.N135=,ENST00000649807,NM_001316943.2,c.405C>T,LOW,,,,-1;PARP16,synonymous_variant,p.N135=,ENST00000261888,NM_017851.6,c.405C>T,LOW,YES,,,-1;PARP16,intron_variant,,ENST00000444347,NM_001316944.2,c.175-3356C>T,MODIFIER,,,,-1;PARP16,non_coding_transcript_exon_variant,,ENST00000558873,,n.739C>T,MODIFIER,,,,-1;PARP16,intron_variant,,ENST00000560149,,n.253-3356C>T,MODIFIER,,,,-1","Allele":"A","Gene":"ENSG00000138617","Feature":"ENST00000261888","Feature_type":"Transcript","One_Consequence":"synonymous_variant","Consequence":"synonymous_variant","cDNA_position":"851/2731","CDS_position":"405/972","Protein_position":"135/323","Amino_acids":"N","Codons":"aaC/aaT","Existing_variation":"rs891750608;COSV56036083","TRANSCRIPT_STRAND":-1,"SYMBOL":"PARP16","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:26040","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS10204.1","ENSP":"ENSP00000261888","SWISSPROT":"Q8N5Y8.135","UNIPARC":"UPI000035079D","UNIPROT_ISOFORM":"Q8N5Y8-3","RefSeq":"NM_017851.6","APPRIS":"P4","EXON":"3/6","DOMAINS":"Pfam:PF00644;PROSITE_profiles:PS51059;PANTHER:PTHR21328;PANTHER:PTHR21328:SF2;Superfamily:SSF56399","gnomAD_AF":"7.954e-06","gnomAD_AFR_AF":"0","gnomAD_AMR_AF":"0","gnomAD_ASJ_AF":"0","gnomAD_EAS_AF":"5.437e-05","gnomAD_FIN_AF":"0","gnomAD_NFE_AF":"0","gnomAD_OTH_AF":"0.000163","gnomAD_SAS_AF":"0","MAX_AF":"0.000163","MAX_AF_POPS":"gnomAD_OTH","gnomAD_non_cancer_AF":"6.76013996780966e-06","gnomAD_non_cancer_AFR_AF":"0","gnomAD_non_cancer_AMI_AF":"0","gnomAD_non_cancer_AMR_AF":"0","gnomAD_non_cancer_ASJ_AF":"0","gnomAD_non_cancer_EAS_AF":"0","gnomAD_non_cancer_FIN_AF":"0","gnomAD_non_cancer_MID_AF":"0","gnomAD_non_cancer_NFE_AF":"1.54301997099537e-05","gnomAD_non_cancer_OTH_AF":"0","gnomAD_non_cancer_SAS_AF":"0","SOMATIC":"0;1","IMPACT":"LOW","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"0;1","CONTEXT":"TTGGCGTTGGC","tumor_bam_uuid":"3443fd69-b7e9-4294-9e8c-c80ee3cc822e","normal_bam_uuid":"d0b511d6-e4b8-4202-b537-87031403e6b1","case_id":"31c96e35-5e2f-429c-b12a-7bc5a497a300","COSMIC":"COSM555644","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"164","Hugo_Symbol":"NPY","Entrez_Gene_Id":4852,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr7","Start_Position":24289544,"End_Position":24289544,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"T","Tumor_Sample_Barcode":"TCGA-50-5946-01A-11D-1753-08","Matched_Norm_Sample_Barcode":"TCGA-50-5946-10A-01D-1753-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"142d43e8-10e1-4945-a37c-f2824d53b122","Matched_Norm_Sample_UUID":"06a41ce7-1553-4452-9f41-da6262e26409","HGVSc":"c.234G>T","HGVSp":"p.Leu78Phe","HGVSp_Short":"p.L78F","Transcript_ID":"ENST00000242152","Exon_Number":"3/4","t_depth":221,"t_ref_count":198,"t_alt_count":23,"n_depth":133,"all_effects":"NPY,missense_variant,p.L78F,ENST00000407573,,c.234G>T,MODERATE,YES,tolerated(0.07),possibly_damaging(0.448),1;NPY,missense_variant,p.L78F,ENST00000405982,,c.234G>T,MODERATE,,tolerated(0.07),possibly_damaging(0.448),1;NPY,missense_variant,p.L78F,ENST00000242152,NM_000905.4,c.234G>T,MODERATE,,tolerated(0.07),possibly_damaging(0.448),1","Allele":"T","Gene":"ENSG00000122585","Feature":"ENST00000242152","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"320/555","CDS_position":"234/294","Protein_position":"78/97","Amino_acids":"L/F","Codons":"ttG/ttT","Existing_variation":"COSV54214452;COSV54214761","TRANSCRIPT_STRAND":1,"SYMBOL":"NPY","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:7955","BIOTYPE":"protein_coding","CCDS":"CCDS5387.1","ENSP":"ENSP00000242152","SWISSPROT":"P01303.197","TREMBL":"A4D158.114","UNIPARC":"UPI000003B341","RefSeq":"NM_000905.4","MANE":"NM_000905.4","APPRIS":"P1","SIFT":"tolerated(0.07)","PolyPhen":"possibly_damaging(0.448)","EXON":"3/4","DOMAINS":"PANTHER:PTHR10533:SF5;PANTHER:PTHR10533","SOMATIC":"1;1","IMPACT":"MODERATE","VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1;1","CONTEXT":"CTCTTGATGAG","tumor_bam_uuid":"4deaabbb-9571-44f3-ad65-6ea37a0dce88","normal_bam_uuid":"caceb655-d370-4184-8b15-5271ce0aad44","case_id":"c95957a7-1a1a-4c8d-bb61-7c99b500f224","COSMIC":"COSM6177290","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"228","Hugo_Symbol":"BTN1A1","Entrez_Gene_Id":696,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr6","Start_Position":26508884,"End_Position":26508884,"Strand":"+","Variant_Classification":"Nonsense_Mutation","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"T","Tumor_Sample_Barcode":"TCGA-50-5931-01A-11D-1753-08","Matched_Norm_Sample_Barcode":"TCGA-50-5931-11A-01D-1753-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"290847c6-c9d4-4a16-a70f-0488e3718f35","Matched_Norm_Sample_UUID":"d65ae314-41bc-4273-aafb-507f31c1fa0a","HGVSc":"c.1291G>T","HGVSp":"p.Gly431Ter","HGVSp_Short":"p.G431*","Transcript_ID":"ENST00000244513","Exon_Number":"7/7","t_depth":44,"t_ref_count":26,"t_alt_count":17,"n_depth":77,"all_effects":"BTN1A1,stop_gained,p.G431*,ENST00000244513,NM_001732.3,c.1291G>T,HIGH,YES,,,1;BTN1A1,stop_gained,p.G431*,ENST00000613186,,c.1291G>T,HIGH,,,,1","Allele":"T","Gene":"ENSG00000124557","Feature":"ENST00000244513","Feature_type":"Transcript","One_Consequence":"stop_gained","Consequence":"stop_gained","cDNA_position":"1357/2895","CDS_position":"1291/1581","Protein_position":"431/526","Amino_acids":"G/*","Codons":"Gga/Tga","Existing_variation":"COSV55069420","TRANSCRIPT_STRAND":1,"SYMBOL":"BTN1A1","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:1135","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS4614.1","ENSP":"ENSP00000244513","SWISSPROT":"Q13410.166","UNIPARC":"UPI000006E521","RefSeq":"NM_001732.3","APPRIS":"P1","EXON":"7/7","DOMAINS":"PROSITE_profiles:PS50188;CDD:cd15819;PANTHER:PTHR24100:SF103;PANTHER:PTHR24100;Gene3D:2.60.120.920;Pfam:PF00622;SMART:SM00449;Superfamily:SSF49899;Prints:PR01407","SOMATIC":"1","IMPACT":"HIGH","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","CONTEXT":"AATCAGGAGAC","tumor_bam_uuid":"21895ba0-4159-4dbb-af6e-adc5813c5214","normal_bam_uuid":"1f330cea-ded1-4e67-9f60-ab42f780093b","case_id":"12ccd581-a921-41bc-bcee-4e9be54532cc","COSMIC":"COSM6106111","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"306","Hugo_Symbol":"MAGEC1","Entrez_Gene_Id":9947,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chrX","Start_Position":141907694,"End_Position":141907694,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-55-A4DF-01A-11D-A24D-08","Matched_Norm_Sample_Barcode":"TCGA-55-A4DF-10A-01D-A24F-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"9b0086c6-b9d2-4307-87c2-3ad6d462d9b5","Matched_Norm_Sample_UUID":"b6d8e54f-06ff-47fe-b6a7-371417e180a0","HGVSc":"c.2290C>A","HGVSp":"p.Gln764Lys","HGVSp_Short":"p.Q764K","Transcript_ID":"ENST00000285879","Exon_Number":"4/4","t_depth":199,"t_ref_count":147,"t_alt_count":52,"n_depth":226,"all_effects":"MAGEC1,missense_variant,p.Q764K,ENST00000285879,NM_005462.5,c.2290C>A,MODERATE,YES,deleterious_low_confidence(0),benign(0.042),1;MAGEC1,intron_variant,,ENST00000406005,,c.-114-396C>A,MODIFIER,,,,1","Allele":"A","Gene":"ENSG00000155495","Feature":"ENST00000285879","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"2576/4256","CDS_position":"2290/3429","Protein_position":"764/1142","Amino_acids":"Q/K","Codons":"Cag/Aag","Existing_variation":"COSV53582572;COSV99596521","TRANSCRIPT_STRAND":1,"SYMBOL":"MAGEC1","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:6812","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS35417.1","ENSP":"ENSP00000285879","SWISSPROT":"O60732.142","UNIPARC":"UPI000006F2FD","UNIPROT_ISOFORM":"O60732-1","RefSeq":"NM_005462.5","MANE":"NM_005462.5","APPRIS":"P4","SIFT":"deleterious_low_confidence(0)","PolyPhen":"benign(0.042)","EXON":"4/4","DOMAINS":"PANTHER:PTHR11736;PANTHER:PTHR11736:SF17;MobiDB_lite:mobidb-lite;Low_complexity_(Seg):seg","SOMATIC":"1;1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1;1","CONTEXT":"GTCCTCAGAGT","tumor_bam_uuid":"228352b7-77ec-4b68-9731-0919b6b9e144","normal_bam_uuid":"47eacc7f-3755-4c32-a65e-bd6c1dc174fe","case_id":"362000e4-cf7c-48fc-93cc-8f5994b442ea","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"271","Hugo_Symbol":"KCNS3","Entrez_Gene_Id":3790,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr2","Start_Position":17931947,"End_Position":17931947,"Strand":"+","Variant_Classification":"Silent","Variant_Type":"SNP","Reference_Allele":"A","Tumor_Seq_Allele1":"A","Tumor_Seq_Allele2":"G","dbSNP_RS":"rs1405976706","Tumor_Sample_Barcode":"TCGA-73-4662-01A-01D-1265-08","Matched_Norm_Sample_Barcode":"TCGA-73-4662-11A-01D-1265-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"48262c89-ecac-44c6-9a06-7170b7b41058","Matched_Norm_Sample_UUID":"9393041d-02ec-478c-b0f1-ca9bb6f9d0f1","HGVSc":"c.939A>G","HGVSp":"p.Leu313=","HGVSp_Short":"p.L313=","Transcript_ID":"ENST00000304101","Exon_Number":"3/3","t_depth":267,"t_ref_count":249,"t_alt_count":18,"n_depth":269,"all_effects":"KCNS3,synonymous_variant,p.L313=,ENST00000403915,NM_001282428.1,c.939A>G,LOW,YES,,,1;KCNS3,synonymous_variant,p.L313=,ENST00000304101,NM_002252.5,c.939A>G,LOW,,,,1;KCNS3,downstream_gene_variant,,ENST00000419802,,,MODIFIER,,,,1;KCNS3,intron_variant,,ENST00000465292,,n.305+14076A>G,MODIFIER,,,,1","Allele":"G","Gene":"ENSG00000170745","Feature":"ENST00000304101","Feature_type":"Transcript","One_Consequence":"synonymous_variant","Consequence":"synonymous_variant","cDNA_position":"1330/2341","CDS_position":"939/1476","Protein_position":"313/491","Amino_acids":"L","Codons":"ctA/ctG","Existing_variation":"rs1405976706;COSV58408362","TRANSCRIPT_STRAND":1,"SYMBOL":"KCNS3","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:6302","BIOTYPE":"protein_coding","CCDS":"CCDS1692.1","ENSP":"ENSP00000305824","SWISSPROT":"Q9BQ31.159","UNIPARC":"UPI000013E93A","RefSeq":"NM_002252.5","MANE":"NM_002252.5","APPRIS":"P1","EXON":"3/3","DOMAINS":"Gene3D:1.10.287.70;Pfam:PF00520;Prints:PR00169;PANTHER:PTHR11537;PANTHER:PTHR11537:SF39;Superfamily:SSF81324","SOMATIC":"0;1","IMPACT":"LOW","VARIANT_CLASS":"SNV","TSL":1,"PHENO":"0;1","CONTEXT":"TCTCTAGGTGC","tumor_bam_uuid":"983649d6-8887-4ce1-bfd6-bb777dc04d12","normal_bam_uuid":"43f877a4-120b-4b40-a3ff-89f84b1530f7","case_id":"294ff941-aea1-4588-9a0e-e9f5393e2bb6","COSMIC":"COSM6089151","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2"}
{"X1":"465","Hugo_Symbol":"GRIA2","Entrez_Gene_Id":2891,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr4","Start_Position":157335701,"End_Position":157335701,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-50-5942-01A-21D-1753-08","Matched_Norm_Sample_Barcode":"TCGA-50-5942-10A-01D-1753-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"95475c1b-086d-4e09-a871-47d8f76c1a07","Matched_Norm_Sample_UUID":"a4369d21-eae0-469b-8ac3-75a0affb1e1f","HGVSc":"c.1297C>A","HGVSp":"p.His433Asn","HGVSp_Short":"p.H433N","Transcript_ID":"ENST00000264426","Exon_Number":"10/16","t_depth":76,"t_ref_count":70,"t_alt_count":6,"n_depth":45,"all_effects":"GRIA2,missense_variant,p.H433N,ENST00000264426,NM_001379000.3&NM_001083619.3,c.1297C>A,MODERATE,,tolerated(0.29),benign(0.001),1;GRIA2,missense_variant,p.H433N,ENST00000296526,NM_000826.6,c.1297C>A,MODERATE,,tolerated(0.29),benign(0.029),1;GRIA2,missense_variant,p.H386N,ENST00000393815,NM_001083620.3,c.1156C>A,MODERATE,,tolerated(0.3),benign(0.014),1;GRIA2,missense_variant,p.H433N,ENST00000645636,,c.1297C>A,MODERATE,YES,tolerated(0.28),benign(0.007),1;GRIA2,missense_variant,p.H386N,ENST00000507898,NM_001379001.3,c.1156C>A,MODERATE,,tolerated(0.3),benign(0.014),1;GRIA2,missense_variant,p.H386N,ENST00000323661,,c.1156C>A,MODERATE,,tolerated(0.3),benign(0.038),1;GRIA2,non_coding_transcript_exon_variant,,ENST00000471736,,n.3166C>A,MODIFIER,,,,1","Allele":"A","Gene":"ENSG00000120251","Feature":"ENST00000264426","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"1612/5611","CDS_position":"1297/2652","Protein_position":"433/883","Amino_acids":"H/N","Codons":"Cat/Aat","Existing_variation":"COSV99644176","TRANSCRIPT_STRAND":1,"SYMBOL":"GRIA2","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:4572","BIOTYPE":"protein_coding","CCDS":"CCDS43274.1","ENSP":"ENSP00000264426","SWISSPROT":"P42262.207","UNIPARC":"UPI000012B7C2","UNIPROT_ISOFORM":"P42262-1","RefSeq":"NM_001379000.3;NM_001083619.3","MANE":"NM_001083619.3","APPRIS":"A1","SIFT":"tolerated(0.29)","PolyPhen":"benign(0.001)","EXON":"10/16","DOMAINS":"PDB-ENSP_mappings:2xhd.A;PDB-ENSP_mappings:2xhd.B;PDB-ENSP_mappings:3r7x.A;PDB-ENSP_mappings:3r7x.B;PDB-ENSP_mappings:3rn8.A;PDB-ENSP_mappings:3rn8.B;PDB-ENSP_mappings:3rn8.C;PDB-ENSP_mappings:3rnn.A;PDB-ENSP_mappings:3rnn.B;PDB-ENSP_mappings:3rnn.C;PDB-ENSP_mappings:3ua8.A;PDB-ENSP_mappings:5h8s.A;PDB-ENSP_mappings:5h8s.B;PDB-ENSP_mappings:5h8s.C;PDB-ENSP_mappings:5ybf.A;PDB-ENSP_mappings:5ybf.B;PDB-ENSP_mappings:5ybf.C;PDB-ENSP_mappings:5ybf.D;PDB-ENSP_mappings:5ybf.E;PDB-ENSP_mappings:5ybf.F;PDB-ENSP_mappings:5ybg.A;PDB-ENSP_mappings:5ybg.B;PDB-ENSP_mappings:5ybg.C;PDB-ENSP_mappings:5ybg.D;PDB-ENSP_mappings:5ybg.E;PDB-ENSP_mappings:5ybg.F;PDB-ENSP_mappings:5zg0.A;PDB-ENSP_mappings:5zg0.B;PDB-ENSP_mappings:5zg0.C;PDB-ENSP_mappings:5zg0.D;PDB-ENSP_mappings:5zg0.E;PDB-ENSP_mappings:5zg0.F;PDB-ENSP_mappings:5zg1.A;PDB-ENSP_mappings:5zg1.B;PDB-ENSP_mappings:5zg2.A;PDB-ENSP_mappings:5zg2.B;PDB-ENSP_mappings:5zg3.A;PDB-ENSP_mappings:5zg3.B;PDB-ENSP_mappings:5zg3.C;PDB-ENSP_mappings:5zg3.D;PDB-ENSP_mappings:5zg3.E;PDB-ENSP_mappings:5zg3.F;Pfam:PF10613;PANTHER:PTHR18966;PANTHER:PTHR18966:SF99;SMART:SM00079;SMART:SM00918;Superfamily:SSF53850;CDD:cd13715","SOMATIC":"1","IMPACT":"MODERATE","VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","GENE_PHENO":"1","CONTEXT":"AAAATCATGAA","tumor_bam_uuid":"15c8c640-03da-46a4-ad58-31b3cf438ac9","normal_bam_uuid":"6ae964be-9432-4515-a87a-5c875707d64f","case_id":"75dd635e-8e0c-4c0b-b21c-20f77770218d","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2"}
{"X1":"483","Hugo_Symbol":"PYY3","Entrez_Gene_Id":644059,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chrX","Start_Position":50156298,"End_Position":50156298,"Strand":"+","Variant_Classification":"RNA","Variant_Type":"SNP","Reference_Allele":"A","Tumor_Seq_Allele1":"A","Tumor_Seq_Allele2":"G","dbSNP_RS":"novel","Tumor_Sample_Barcode":"TCGA-44-A47A-01A-21D-A24D-08","Matched_Norm_Sample_Barcode":"TCGA-44-A47A-10A-01D-A24F-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"e730e192-b43c-4a71-950d-4739754ad4e7","Matched_Norm_Sample_UUID":"fa9caac9-ec8a-4b4f-83d3-e07244dd870e","HGVSc":"n.140A>G","Transcript_ID":"ENST00000419078","Exon_Number":"1/1","t_depth":9,"t_ref_count":4,"t_alt_count":5,"n_depth":10,"all_effects":"PYY3,non_coding_transcript_exon_variant,,ENST00000419078,,n.140A>G,MODIFIER,YES,,,1","Allele":"G","Gene":"ENSG00000181977","Feature":"ENST00000419078","Feature_type":"Transcript","One_Consequence":"non_coding_transcript_exon_variant","Consequence":"non_coding_transcript_exon_variant","cDNA_position":"140/213","TRANSCRIPT_STRAND":1,"SYMBOL":"PYY3","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:31855","BIOTYPE":"processed_pseudogene","CANONICAL":"YES","EXON":"1/1","IMPACT":"MODIFIER","PICK":1,"VARIANT_CLASS":"SNV","CONTEXT":"GAGCCACTATT","tumor_bam_uuid":"bbe93a34-c96c-4f65-a73b-77eab6b67d4f","normal_bam_uuid":"4610f708-c031-4523-928d-2f34d7ce10a6","case_id":"7b9479ff-23d6-4689-91f0-02efc94300f9","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"49","Hugo_Symbol":"PLA2R1","Entrez_Gene_Id":22925,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr2","Start_Position":159976119,"End_Position":159976119,"Strand":"+","Variant_Classification":"Silent","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"A","dbSNP_RS":"rs1560166743","Tumor_Sample_Barcode":"TCGA-44-6147-01A-11D-A271-08","Matched_Norm_Sample_Barcode":"TCGA-44-6147-10A-01D-1753-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"08d6dde8-4ca9-40bb-afb9-28036cf3a550","Matched_Norm_Sample_UUID":"3ca8208a-ca5b-45e8-968d-9f47b6201fd1","HGVSc":"c.2544C>T","HGVSp":"p.Leu848=","HGVSp_Short":"p.L848=","Transcript_ID":"ENST00000283243","Exon_Number":"17/30","t_depth":98,"t_ref_count":74,"t_alt_count":24,"n_depth":102,"all_effects":"PLA2R1,synonymous_variant,p.L848=,ENST00000283243,NM_001195641.2&NM_007366.5,c.2544C>T,LOW,YES,,,-1;PLA2R1,synonymous_variant,p.L848=,ENST00000392771,NM_001007267.2,c.2544C>T,LOW,,,,-1","Allele":"A","Gene":"ENSG00000153246","Feature":"ENST00000283243","Feature_type":"Transcript","One_Consequence":"synonymous_variant","Consequence":"synonymous_variant","cDNA_position":"2756/14376","CDS_position":"2544/4392","Protein_position":"848/1463","Amino_acids":"L","Codons":"ctC/ctT","Existing_variation":"rs1560166743;COSV51787435","TRANSCRIPT_STRAND":-1,"SYMBOL":"PLA2R1","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:9042","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS33309.1","ENSP":"ENSP00000283243","SWISSPROT":"Q13018.161","UNIPARC":"UPI00001AEA9D","UNIPROT_ISOFORM":"Q13018-1","RefSeq":"NM_001195641.2;NM_007366.5","MANE":"NM_007366.5","APPRIS":"P1","EXON":"17/30","DOMAINS":"CDD:cd00037;Pfam:PF00059;Gene3D:3.10.100.10;SMART:SM00034;Superfamily:SSF56436;PROSITE_profiles:PS50041;PANTHER:PTHR22803:SF74;PANTHER:PTHR22803","gnomAD_AF":"3.989e-06","gnomAD_AFR_AF":"0","gnomAD_AMR_AF":"2.905e-05","gnomAD_ASJ_AF":"0","gnomAD_EAS_AF":"0","gnomAD_FIN_AF":"0","gnomAD_NFE_AF":"0","gnomAD_OTH_AF":"0","gnomAD_SAS_AF":"0","MAX_AF":"2.905e-05","MAX_AF_POPS":"gnomAD_AMR","SOMATIC":"0;1","IMPACT":"LOW","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"0;1","CONTEXT":"ATTGTGAGAAG","tumor_bam_uuid":"4dfdf026-fd83-4121-a967-b4c743d67e53","normal_bam_uuid":"1de8cf98-e404-43a3-8f75-80eaebeed167","case_id":"889aec8e-14ba-48d9-8fe1-f2416e82b333","COSMIC":"COSM6088234","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"318","Hugo_Symbol":"ZBBX","Entrez_Gene_Id":79740,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr3","Start_Position":167328013,"End_Position":167328013,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"T","Tumor_Seq_Allele1":"T","Tumor_Seq_Allele2":"A","dbSNP_RS":"novel","Tumor_Sample_Barcode":"TCGA-17-Z056-01A-01W-0747-08","Matched_Norm_Sample_Barcode":"TCGA-17-Z056-11A-01W-0747-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"e6cb3d63-5a55-4eba-84d2-a25917c7b18e","Matched_Norm_Sample_UUID":"bff97ed8-5168-4367-8f15-29849ce29f87","HGVSc":"c.791A>T","HGVSp":"p.Glu264Val","HGVSp_Short":"p.E264V","Transcript_ID":"ENST00000392766","Exon_Number":"11/21","t_depth":794,"t_ref_count":766,"t_alt_count":25,"n_depth":896,"all_effects":"ZBBX,missense_variant,p.E264V,ENST00000675490,NM_001199201.2,c.791A>T,MODERATE,YES,deleterious(0),possibly_damaging(0.804),-1;ZBBX,missense_variant,p.E264V,ENST00000455345,NM_001377489.1,c.791A>T,MODERATE,,deleterious(0),possibly_damaging(0.521),-1;ZBBX,missense_variant,p.E264V,ENST00000392766,NM_024687.3,c.791A>T,MODERATE,,deleterious(0),possibly_damaging(0.521),-1;ZBBX,missense_variant,p.E264V,ENST00000307529,,c.791A>T,MODERATE,,deleterious(0),possibly_damaging(0.804),-1;ZBBX,missense_variant,p.E235V,ENST00000392767,,c.704A>T,MODERATE,,deleterious(0),possibly_damaging(0.521),-1;ZBBX,missense_variant,p.E235V,ENST00000392764,NM_001199202.1,c.704A>T,MODERATE,,deleterious(0),possibly_damaging(0.521),-1;ZBBX,intron_variant,,ENST00000469220,,n.158-10908A>T,MODIFIER,,,,-1;ZBBX,missense_variant,p.E264V,ENST00000674903,,c.791A>T,MODERATE,,deleterious(0),probably_damaging(0.971),-1","Allele":"A","Gene":"ENSG00000169064","Feature":"ENST00000392766","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"1132/3250","CDS_position":"791/2403","Protein_position":"264/800","Amino_acids":"E/V","Codons":"gAa/gTa","TRANSCRIPT_STRAND":-1,"SYMBOL":"ZBBX","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:26245","BIOTYPE":"protein_coding","CCDS":"CCDS3199.2","ENSP":"ENSP00000376519","SWISSPROT":"A8MT70.97","UNIPARC":"UPI000020A743","UNIPROT_ISOFORM":"A8MT70-1","RefSeq":"NM_024687.3","APPRIS":"A2","SIFT":"deleterious(0)","PolyPhen":"possibly_damaging(0.521)","EXON":"11/21","DOMAINS":"PANTHER:PTHR28634","IMPACT":"MODERATE","VARIANT_CLASS":"SNV","TSL":2,"CONTEXT":"ACACTTCCTGA","tumor_bam_uuid":"e641e2f1-a384-4fca-b9ab-9003b688201d","normal_bam_uuid":"c439ecac-bba0-48ff-98c7-66ed2f6efc90","case_id":"392ca7f3-d52e-4aa7-a9ba-4c7d9aa6401c","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2"}
{"X1":"102","Hugo_Symbol":"PDAP1","Entrez_Gene_Id":11333,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr7","Start_Position":99397881,"End_Position":99397881,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"G","dbSNP_RS":"novel","Tumor_Sample_Barcode":"TCGA-17-Z033-01A-01W-0746-08","Matched_Norm_Sample_Barcode":"TCGA-17-Z033-11A-01W-0746-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"639aea7c-5a38-4641-bf0d-90a9ce8e2980","Matched_Norm_Sample_UUID":"27a976e4-0721-4c0a-94e5-f4ffbc460e54","HGVSc":"c.468G>C","HGVSp":"p.Lys156Asn","HGVSp_Short":"p.K156N","Transcript_ID":"ENST00000350498","Exon_Number":"5/6","t_depth":79,"t_ref_count":71,"t_alt_count":8,"n_depth":39,"all_effects":"PDAP1,missense_variant,p.K156N,ENST00000350498,NM_014891.7,c.468G>C,MODERATE,YES,deleterious(0),benign(0.013),-1;ARPC1B,downstream_gene_variant,,ENST00000417330,,,MODIFIER,,,,1;ARPC1B,downstream_gene_variant,,ENST00000427217,,,MODIFIER,,,,1;ARPC1B,downstream_gene_variant,,ENST00000431816,,,MODIFIER,,,,1;ARPC1B,downstream_gene_variant,,ENST00000443222,,,MODIFIER,,,,1;ARPC1B,downstream_gene_variant,,ENST00000451682,,,MODIFIER,YES,,,1;ARPC1B,downstream_gene_variant,,ENST00000455009,,,MODIFIER,,,,1;ARPC1B,downstream_gene_variant,,ENST00000458033,,,MODIFIER,,,,1;AC004922.1,downstream_gene_variant,,ENST00000638617,,,MODIFIER,YES,,,1;ARPC1B,downstream_gene_variant,,ENST00000645391,,,MODIFIER,,,,1;ARPC1B,downstream_gene_variant,,ENST00000646101,NM_005720.4,,MODIFIER,,,,1;PDAP1,non_coding_transcript_exon_variant,,ENST00000496335,,n.80G>C,MODIFIER,,,,-1;ARPC1B,downstream_gene_variant,,ENST00000463078,,,MODIFIER,,,,1;PDAP1,3_prime_UTR_variant,,ENST00000426447,,c.*368G>C,MODIFIER,,,,-1;ARPC1B,downstream_gene_variant,,ENST00000481997,,,MODIFIER,,,,1;ARPC1B,downstream_gene_variant,,ENST00000491294,,,MODIFIER,,,,1","Allele":"G","Gene":"ENSG00000106244","Feature":"ENST00000350498","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"517/2604","CDS_position":"468/546","Protein_position":"156/181","Amino_acids":"K/N","Codons":"aaG/aaC","TRANSCRIPT_STRAND":-1,"SYMBOL":"PDAP1","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:14634","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS5662.1","ENSP":"ENSP00000222968","SWISSPROT":"Q13442.156","UNIPARC":"UPI000012CB07","RefSeq":"NM_014891.7","MANE":"NM_014891.7","APPRIS":"P1","SIFT":"deleterious(0)","PolyPhen":"benign(0.013)","EXON":"5/6","DOMAINS":"Low_complexity_(Seg):seg;MobiDB_lite:mobidb-lite;MobiDB_lite:mobidb-lite;Coiled-coils_(Ncoils):Coil;PANTHER:PTHR22055:SF5;PANTHER:PTHR22055;Pfam:PF10252","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"CONTEXT":"TCCTTCTTCCG","tumor_bam_uuid":"45b677c8-60dc-4d66-b79b-f64f9a652025","normal_bam_uuid":"15bc0a6e-a474-4204-bf27-9d0d4d6b68b6","case_id":"a16d7bf7-07b7-4320-969c-fc68dd564a92","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2"}
{"X1":"510","Hugo_Symbol":"SLIT2","Entrez_Gene_Id":9353,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr4","Start_Position":20567285,"End_Position":20567285,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"T","Tumor_Sample_Barcode":"TCGA-86-8673-01A-11D-2393-08","Matched_Norm_Sample_Barcode":"TCGA-86-8673-10A-01D-2393-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"0e7abafe-f12a-492a-8854-8b55340fe37c","Matched_Norm_Sample_UUID":"3f4a039a-338c-46d7-a465-e66dc4818841","HGVSc":"c.2749G>T","HGVSp":"p.Ala917Ser","HGVSp_Short":"p.A917S","Transcript_ID":"ENST00000504154","Exon_Number":"27/37","t_depth":179,"t_ref_count":156,"t_alt_count":23,"n_depth":230,"all_effects":"SLIT2,missense_variant,p.A917S,ENST00000504154,NM_004787.4,c.2749G>T,MODERATE,,tolerated(0.23),possibly_damaging(0.802),1;SLIT2,missense_variant,p.A827S,ENST00000622093,,c.2479G>T,MODERATE,,tolerated(0.27),benign(0.044),1;SLIT2,missense_variant,p.A909S,ENST00000503823,NM_001289136.3,c.2725G>T,MODERATE,,tolerated(0.27),benign(0.272),1;SLIT2,missense_variant,p.A921S,ENST00000273739,,c.2761G>T,MODERATE,YES,tolerated(0.27),benign(0.253),1;SLIT2,missense_variant,p.A913S,ENST00000503837,NM_001289135.3,c.2737G>T,MODERATE,,tolerated(0.27),benign(0.044),1;SLIT2,missense_variant,p.A129S,ENST00000511508,,c.385G>T,MODERATE,,tolerated(0.26),probably_damaging(0.962),1;SLIT2,missense_variant,p.A48S,ENST00000509941,,c.142G>T,MODERATE,,tolerated(0.21),probably_damaging(0.997),1","Allele":"T","Gene":"ENSG00000145147","Feature":"ENST00000504154","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"4660/8053","CDS_position":"2749/4590","Protein_position":"917/1529","Amino_acids":"A/S","Codons":"Gct/Tct","Existing_variation":"COSV99886128","TRANSCRIPT_STRAND":1,"SYMBOL":"SLIT2","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:11086","BIOTYPE":"protein_coding","CCDS":"CCDS3426.1","ENSP":"ENSP00000422591","SWISSPROT":"O94813.199","UNIPARC":"UPI00000747E4","RefSeq":"NM_004787.4","MANE":"NM_004787.4","APPRIS":"A2","SIFT":"tolerated(0.23)","PolyPhen":"possibly_damaging(0.802)","EXON":"27/37","DOMAINS":"PANTHER:PTHR45836;PANTHER:PTHR45836:SF2;Superfamily:SSF57196","SOMATIC":"1","IMPACT":"MODERATE","VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","CONTEXT":"TTCTAGCTAAG","tumor_bam_uuid":"77fda199-7d21-4888-8f90-bc77c68a3fe9","normal_bam_uuid":"f2a81384-12e8-464e-ad56-115f2d5fd938","case_id":"bc4c4079-b449-485d-84e4-a40496e563e8","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"206","Hugo_Symbol":"PTGER3","Entrez_Gene_Id":5733,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr1","Start_Position":71046775,"End_Position":71046775,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"T","Tumor_Seq_Allele1":"T","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-50-6592-01A-11D-1753-08","Matched_Norm_Sample_Barcode":"TCGA-50-6592-11A-01D-1753-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"d0303d05-a937-4a7d-9934-ffa93cc1c5de","Matched_Norm_Sample_UUID":"a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f","HGVSc":"c.803A>T","HGVSp":"p.Gln268Leu","HGVSp_Short":"p.Q268L","Transcript_ID":"ENST00000306666","Exon_Number":"1/4","t_depth":58,"t_ref_count":52,"t_alt_count":6,"n_depth":52,"all_effects":"PTGER3,missense_variant,p.Q268L,ENST00000370924,NM_198715.3,c.803A>T,MODERATE,,tolerated(0.07),benign(0.048),-1;PTGER3,missense_variant,p.Q268L,ENST00000306666,NM_198719.2,c.803A>T,MODERATE,,tolerated(0.06),benign(0.044),-1;PTGER3,missense_variant,p.Q268L,ENST00000356595,NM_198718.2,c.803A>T,MODERATE,YES,tolerated(0.08),benign(0.079),-1;PTGER3,missense_variant,p.Q268L,ENST00000370931,NM_198714.2&NM_001126044.2,c.803A>T,MODERATE,,tolerated(0.06),benign(0.044),-1;PTGER3,missense_variant,p.Q268L,ENST00000370932,,c.803A>T,MODERATE,,tolerated(0.06),probably_damaging(0.933),-1;PTGER3,missense_variant,p.Q268L,ENST00000628037,NM_198717.2,c.803A>T,MODERATE,,tolerated(0.07),benign(0.015),-1;PTGER3,missense_variant,p.Q268L,ENST00000354608,,c.803A>T,MODERATE,,tolerated(0.1),possibly_damaging(0.811),-1;PTGER3,missense_variant,p.Q268L,ENST00000460330,NM_198716.2,c.803A>T,MODERATE,,tolerated(0.08),benign(0.015),-1;PTGER3,missense_variant,p.Q268L,ENST00000351052,,c.803A>T,MODERATE,,tolerated(0.06),benign(0.044),-1;PTGER3,missense_variant,p.Q268L,ENST00000497146,,c.803A>T,MODERATE,,deleterious(0.04),possibly_damaging(0.644),-1;PTGER3,missense_variant,p.Q268L,ENST00000361210,,c.803A>T,MODERATE,,deleterious(0.05),benign(0.044),-1;PTGER3,missense_variant,p.Q268L,ENST00000479353,,c.803A>T,MODERATE,,tolerated(0.06),benign(0.026),-1;ZRANB2-AS1,upstream_gene_variant,,ENST00000450461,,,MODIFIER,,,,1","Allele":"A","Gene":"ENSG00000050628","Feature":"ENST00000306666","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"1014/2333","CDS_position":"803/1173","Protein_position":"268/390","Amino_acids":"Q/L","Codons":"cAg/cTg","Existing_variation":"COSV100139700","TRANSCRIPT_STRAND":-1,"SYMBOL":"PTGER3","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:9595","BIOTYPE":"protein_coding","CCDS":"CCDS657.1","ENSP":"ENSP00000302313","SWISSPROT":"P43115.194","UNIPARC":"UPI0000131534","UNIPROT_ISOFORM":"P43115-1","RefSeq":"NM_198719.2","APPRIS":"A2","SIFT":"tolerated(0.06)","PolyPhen":"benign(0.044)","EXON":"1/4","DOMAINS":"PDB-ENSP_mappings:6ak3.A;PDB-ENSP_mappings:6ak3.B;PROSITE_profiles:PS50262;CDD:cd15146;PANTHER:PTHR11866;PANTHER:PTHR11866:SF10;Gene3D:1.20.1070.10;Pfam:PF00001;Superfamily:SSF81321;Prints:PR00582","SOMATIC":"1","IMPACT":"MODERATE","VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","CONTEXT":"TGGACTGAGAT","tumor_bam_uuid":"cacb8b1e-079f-47cd-8dc9-0be90e7b4451","normal_bam_uuid":"229e5d8d-6cd4-474b-9f86-9e1cdf81494b","case_id":"09918b81-4696-4cba-a45a-5fe7407c2337","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2"}
{"X1":"377","Hugo_Symbol":"SLIT2","Entrez_Gene_Id":9353,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr4","Start_Position":20486236,"End_Position":20486236,"Strand":"+","Variant_Classification":"Silent","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"T","Tumor_Sample_Barcode":"TCGA-78-7158-01A-11D-2036-08","Matched_Norm_Sample_Barcode":"TCGA-78-7158-10A-01D-2036-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"199bbb0f-996c-40c1-b06d-2066f04be778","Matched_Norm_Sample_UUID":"3f4bced4-f89a-43d2-9c5f-6f9683897fa7","HGVSc":"c.576G>T","HGVSp":"p.Val192=","HGVSp_Short":"p.V192=","Transcript_ID":"ENST00000504154","Exon_Number":"7/37","t_depth":38,"t_ref_count":26,"t_alt_count":12,"n_depth":45,"all_effects":"SLIT2,synonymous_variant,p.V192=,ENST00000504154,NM_004787.4,c.576G>T,LOW,,,,1;SLIT2,synonymous_variant,p.V106=,ENST00000622093,,c.318G>T,LOW,,,,1;SLIT2,synonymous_variant,p.V192=,ENST00000503823,NM_001289136.3,c.576G>T,LOW,,,,1;SLIT2,synonymous_variant,p.V192=,ENST00000273739,,c.576G>T,LOW,YES,,,1;SLIT2,synonymous_variant,p.V192=,ENST00000503837,NM_001289135.3,c.576G>T,LOW,,,,1;SLIT2,downstream_gene_variant,,ENST00000508824,,,MODIFIER,,,,1","Allele":"T","Gene":"ENSG00000145147","Feature":"ENST00000504154","Feature_type":"Transcript","One_Consequence":"synonymous_variant","Consequence":"synonymous_variant","cDNA_position":"2487/8053","CDS_position":"576/4590","Protein_position":"192/1529","Amino_acids":"V","Codons":"gtG/gtT","Existing_variation":"COSV56559152;COSV56568909","TRANSCRIPT_STRAND":1,"SYMBOL":"SLIT2","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:11086","BIOTYPE":"protein_coding","CCDS":"CCDS3426.1","ENSP":"ENSP00000422591","SWISSPROT":"O94813.199","UNIPARC":"UPI00000747E4","RefSeq":"NM_004787.4","MANE":"NM_004787.4","APPRIS":"A2","EXON":"7/37","DOMAINS":"Gene3D:3.80.10.10;PROSITE_profiles:PS51450;PANTHER:PTHR45836;PANTHER:PTHR45836:SF2;SMART:SM00369;Superfamily:SSF52058","SOMATIC":"1;1","IMPACT":"LOW","VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1;1","CONTEXT":"TCTGTGGCAAG","tumor_bam_uuid":"9af2b564-bef6-4f4c-9c2e-bd21370f74e4","normal_bam_uuid":"98c0f482-f553-433e-bf67-c8a97a6d36a0","case_id":"501c987e-d1eb-48a9-89eb-72a5062c90b4","COSMIC":"COSM6167338","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"202","Hugo_Symbol":"DENND10P1","Entrez_Gene_Id":55855,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chrX","Start_Position":130495780,"End_Position":130495780,"Strand":"+","Variant_Classification":"RNA","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-78-7155-01A-11D-2036-08","Matched_Norm_Sample_Barcode":"TCGA-78-7155-10A-01D-2036-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"cf7882fa-4343-4c32-8940-2fc85cfb4c6e","Matched_Norm_Sample_UUID":"14233f2d-dd7b-4330-a079-0f7158397e28","HGVSc":"n.816C>A","Transcript_ID":"ENST00000592932","Exon_Number":"1/1","t_depth":46,"t_ref_count":12,"t_alt_count":34,"n_depth":35,"all_effects":"DENND10P1,non_coding_transcript_exon_variant,,ENST00000592932,,n.816C>A,MODIFIER,YES,,,1;Z82195.2,intron_variant,,ENST00000458525,,n.1016-574G>T,MODIFIER,,,,-1;DENND10P1,non_coding_transcript_exon_variant,,ENST00000408950,,n.622C>A,MODIFIER,,,,1;Z82195.2,intron_variant,,ENST00000612348,,n.415+19479G>T,MODIFIER,YES,,,-1;Z82195.3,upstream_gene_variant,,ENST00000654625,,,MODIFIER,YES,,,1","Allele":"A","Gene":"ENSG00000221930","Feature":"ENST00000592932","Feature_type":"Transcript","One_Consequence":"non_coding_transcript_exon_variant","Consequence":"non_coding_transcript_exon_variant","cDNA_position":"816/1624","TRANSCRIPT_STRAND":1,"SYMBOL":"DENND10P1","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:30886","BIOTYPE":"processed_transcript","CANONICAL":"YES","EXON":"1/1","IMPACT":"MODIFIER","PICK":1,"VARIANT_CLASS":"SNV","CONTEXT":"ACCGACAGGAC","tumor_bam_uuid":"9b30db3c-976e-4bc8-9de8-6f786f1510ee","normal_bam_uuid":"56d63102-ab57-41ae-9908-d2c93e407d4d","case_id":"fc79086c-af9a-4c27-b074-f7050b6f3381","COSMIC":"COSM6184841","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"253","Hugo_Symbol":"RXFP2","Entrez_Gene_Id":122042,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr13","Start_Position":31782691,"End_Position":31782691,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"T","Tumor_Seq_Allele1":"T","Tumor_Seq_Allele2":"G","Tumor_Sample_Barcode":"TCGA-55-7911-01A-11D-2167-08","Matched_Norm_Sample_Barcode":"TCGA-55-7911-10A-01D-2167-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"de6ded5a-1646-40fa-80a8-c916cef5dd94","Matched_Norm_Sample_UUID":"c3cdccd4-e903-42d8-ac96-0a11e8fb9be4","HGVSc":"c.873T>G","HGVSp":"p.Asn291Lys","HGVSp_Short":"p.N291K","Transcript_ID":"ENST00000298386","Exon_Number":"11/18","t_depth":57,"t_ref_count":50,"t_alt_count":7,"n_depth":48,"all_effects":"RXFP2,missense_variant,p.N291K,ENST00000298386,NM_130806.5,c.873T>G,MODERATE,YES,deleterious(0),probably_damaging(0.999),1;RXFP2,intron_variant,,ENST00000380314,NM_001166058.1,c.857+949T>G,MODIFIER,,,,1","Allele":"G","Gene":"ENSG00000133105","Feature":"ENST00000298386","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"960/3336","CDS_position":"873/2265","Protein_position":"291/754","Amino_acids":"N/K","Codons":"aaT/aaG","Existing_variation":"COSV53634089","TRANSCRIPT_STRAND":1,"SYMBOL":"RXFP2","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:17318","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS9342.1","ENSP":"ENSP00000298386","SWISSPROT":"Q8WXD0.173","UNIPARC":"UPI0000049589","UNIPROT_ISOFORM":"Q8WXD0-1","RefSeq":"NM_130806.5","MANE":"NM_130806.5","APPRIS":"P1","SIFT":"deleterious(0)","PolyPhen":"probably_damaging(0.999)","EXON":"11/18","DOMAINS":"Gene3D:3.80.10.10;Pfam:PF13855;PROSITE_profiles:PS51450;PANTHER:PTHR24372;PANTHER:PTHR24372:SF72;SMART:SM00369;Superfamily:SSF52058","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","CONTEXT":"AGAAATCAAAT","tumor_bam_uuid":"0656cce7-34e3-40d1-8f2f-c66751bc02ff","normal_bam_uuid":"867e1e4b-8423-4158-ac1d-a38a7d9b62a5","case_id":"1f0a5312-0590-4230-9da9-fd0cfe693586","COSMIC":"COSM6138798","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"546","Hugo_Symbol":"BPTF","Entrez_Gene_Id":2186,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr17","Start_Position":67959857,"End_Position":67959857,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"T","dbSNP_RS":"rs781919328","Tumor_Sample_Barcode":"TCGA-86-A4JF-01A-11D-A24P-08","Matched_Norm_Sample_Barcode":"TCGA-86-A4JF-10A-01D-A24P-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"4b2dfe24-4585-47f8-8f97-04f734e3e38b","Matched_Norm_Sample_UUID":"637afdad-87c7-4832-9235-506369a19d1b","HGVSc":"c.8621C>T","HGVSp":"p.Thr2874Met","HGVSp_Short":"p.T2874M","Transcript_ID":"ENST00000321892","Exon_Number":"26/30","t_depth":70,"t_ref_count":65,"t_alt_count":5,"n_depth":82,"all_effects":"BPTF,missense_variant,p.T2874M,ENST00000321892,NM_004459.7,c.8621C>T,MODERATE,YES,deleterious(0),probably_damaging(0.968),1;BPTF,missense_variant,p.T2748M,ENST00000306378,NM_182641.4,c.8243C>T,MODERATE,,deleterious(0),probably_damaging(0.999),1;BPTF,missense_variant,p.T2735M,ENST00000644067,,c.8204C>T,MODERATE,,deleterious(0),probably_damaging(0.999),1;BPTF,missense_variant,p.T2592M,ENST00000342579,,c.7775C>T,MODERATE,,deleterious(0),probably_damaging(0.999),1;BPTF,missense_variant,p.T2592M,ENST00000424123,,c.7775C>T,MODERATE,,deleterious(0),probably_damaging(0.999),1;BPTF,missense_variant,p.T478M,ENST00000580465,,c.1433C>T,MODERATE,,deleterious(0),probably_damaging(0.999),1;BPTF,missense_variant,p.T200M,ENST00000581258,,c.599C>T,MODERATE,,deleterious(0),possibly_damaging(0.895),1;BPTF,upstream_gene_variant,,ENST00000583990,,,MODIFIER,,,,1;AC134407.2,downstream_gene_variant,,ENST00000625089,,,MODIFIER,YES,,,1","Allele":"T","Gene":"ENSG00000171634","Feature":"ENST00000321892","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"8682/11292","CDS_position":"8621/9141","Protein_position":"2874/3046","Amino_acids":"T/M","Codons":"aCg/aTg","Existing_variation":"rs781919328;COSV100076065","TRANSCRIPT_STRAND":1,"SYMBOL":"BPTF","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:3581","BIOTYPE":"protein_coding","CANONICAL":"YES","ENSP":"ENSP00000315454","SWISSPROT":"Q12830.198","UNIPARC":"UPI0001838807","UNIPROT_ISOFORM":"Q12830-1","RefSeq":"NM_004459.7","SIFT":"deleterious(0)","PolyPhen":"probably_damaging(0.968)","EXON":"26/30","DOMAINS":"PDB-ENSP_mappings:2f6j.A;PDB-ENSP_mappings:2f6j.B;PDB-ENSP_mappings:2f6j.C;PDB-ENSP_mappings:2f6n.A;PDB-ENSP_mappings:2f6n.B;PDB-ENSP_mappings:2fsa.A;PDB-ENSP_mappings:2fsa.B;PDB-ENSP_mappings:2fsa.C;PDB-ENSP_mappings:2fui.A;PDB-ENSP_mappings:2fuu.A;PDB-ENSP_mappings:2ri7.A;Gene3D:3.30.40.10;PDB-ENSP_mappings:3qzv.A;PDB-ENSP_mappings:6aze.A;Pfam:PF00628;PROSITE_patterns:PS01359;PROSITE_profiles:PS50016;PANTHER:PTHR45975;SMART:SM00249;Superfamily:SSF57903;CDD:cd15560","gnomAD_AF":"8.553e-06","gnomAD_AFR_AF":"0","gnomAD_AMR_AF":"0","gnomAD_ASJ_AF":"0","gnomAD_EAS_AF":"5.701e-05","gnomAD_FIN_AF":"0","gnomAD_NFE_AF":"0","gnomAD_OTH_AF":"0","gnomAD_SAS_AF":"3.706e-05","MAX_AF":"5.701e-05","MAX_AF_POPS":"gnomAD_EAS","gnomAD_non_cancer_AF":"6.75968021823792e-06","gnomAD_non_cancer_AFR_AF":"0","gnomAD_non_cancer_AMI_AF":"0","gnomAD_non_cancer_AMR_AF":"0","gnomAD_non_cancer_ASJ_AF":"0","gnomAD_non_cancer_EAS_AF":"0","gnomAD_non_cancer_FIN_AF":"0","gnomAD_non_cancer_MID_AF":"0","gnomAD_non_cancer_NFE_AF":"0","gnomAD_non_cancer_OTH_AF":"0","gnomAD_non_cancer_SAS_AF":"0.00020815999596379","SOMATIC":"0;1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":5,"PHENO":"0;1","GENE_PHENO":"1","CONTEXT":"TAAAACGCCTT","tumor_bam_uuid":"e988c1dd-0c18-4eaa-a9f2-01e66a8a8f02","normal_bam_uuid":"b556a555-a6a3-497e-8732-01eaf8f20c08","case_id":"e01e4fb3-236a-4d16-9073-555876b688e9","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2"}
{"X1":"126","Hugo_Symbol":"EMILIN2","Entrez_Gene_Id":84034,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr18","Start_Position":2891452,"End_Position":2891452,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"T","Tumor_Sample_Barcode":"TCGA-69-7980-01A-11D-2184-08","Matched_Norm_Sample_Barcode":"TCGA-69-7980-10A-01D-2184-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"125eda94-46ba-467b-93a5-909b1084136d","Matched_Norm_Sample_UUID":"ff44cf5d-e9bb-4f79-82b0-056824e2d6b5","HGVSc":"c.1325C>T","HGVSp":"p.Pro442Leu","HGVSp_Short":"p.P442L","Transcript_ID":"ENST00000254528","Exon_Number":"4/8","t_depth":165,"t_ref_count":118,"t_alt_count":47,"n_depth":75,"all_effects":"EMILIN2,missense_variant,p.P442L,ENST00000254528,NM_032048.3,c.1325C>T,MODERATE,YES,tolerated(0.98),benign(0.006),1","Allele":"T","Gene":"ENSG00000132205","Feature":"ENST00000254528","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"1508/5944","CDS_position":"1325/3162","Protein_position":"442/1053","Amino_acids":"P/L","Codons":"cCa/cTa","Existing_variation":"COSV54426295","TRANSCRIPT_STRAND":1,"SYMBOL":"EMILIN2","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:19881","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS11828.1","ENSP":"ENSP00000254528","SWISSPROT":"Q9BXX0.147","UNIPARC":"UPI000013CE3E","RefSeq":"NM_032048.3","MANE":"NM_032048.3","APPRIS":"P1","SIFT":"tolerated(0.98)","PolyPhen":"benign(0.006)","EXON":"4/8","DOMAINS":"PANTHER:PTHR15427;PANTHER:PTHR15427:SF5","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","CONTEXT":"AGAGCCAGATG","tumor_bam_uuid":"84685ecc-531d-4c12-9193-5442b8e30b14","normal_bam_uuid":"7497093e-bfce-4aea-a545-12309b3f519c","case_id":"aee86a89-0377-4080-b16c-408bfbe78687","COSMIC":"COSM6148915","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"521","Hugo_Symbol":"KLHL24","Entrez_Gene_Id":54800,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr3","Start_Position":183650488,"End_Position":183650488,"Strand":"+","Variant_Classification":"Silent","Variant_Type":"SNP","Reference_Allele":"A","Tumor_Seq_Allele1":"A","Tumor_Seq_Allele2":"T","Tumor_Sample_Barcode":"TCGA-55-8507-01A-11D-2393-08","Matched_Norm_Sample_Barcode":"TCGA-55-8507-10A-01D-2393-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"7f80e586-a01e-4500-8669-3ab11653306a","Matched_Norm_Sample_UUID":"685bf1a3-c398-458d-9906-7251883d89dd","HGVSc":"c.132A>T","HGVSp":"p.Ser44=","HGVSp_Short":"p.S44=","Transcript_ID":"ENST00000242810","Exon_Number":"3/8","t_depth":65,"t_ref_count":48,"t_alt_count":17,"n_depth":141,"all_effects":"KLHL24,synonymous_variant,p.S44=,ENST00000454652,NM_001349418.1&NM_001349424.1&NM_001349417.1&NM_001349420.1&NM_001349414.1&NM_001349422.1,c.132A>T,LOW,YES,,,1;KLHL24,synonymous_variant,p.S44=,ENST00000242810,NM_001349428.1&NM_001349413.1&NM_017644.3&NM_001349415.1&NM_001349423.1&NM_001349419.1&NM_001349429.1&NM_001349421.1&NM_001349416.1&NM_001349425.1&NM_001349426.1,c.132A>T,LOW,,,,1;KLHL24,synonymous_variant,p.S44=,ENST00000476808,,c.132A>T,LOW,,,,1;KLHL24,synonymous_variant,p.S44=,ENST00000493074,,c.132A>T,LOW,,,,1;KLHL24,synonymous_variant,p.S44=,ENST00000468001,,c.132A>T,LOW,,,,1;KLHL24,synonymous_variant,p.S44=,ENST00000454495,,c.132A>T,LOW,,,,1;KLHL24,synonymous_variant,p.S44=,ENST00000482138,,c.132A>T,LOW,,,,1;KLHL24,synonymous_variant,p.S44=,ENST00000468101,,c.132A>T,LOW,,,,1;KLHL24,synonymous_variant,p.S44=,ENST00000437402,,c.132A>T,LOW,,,,1;KLHL24,synonymous_variant,p.S44=,ENST00000427201,,c.132A>T,LOW,,,,1;KLHL24,synonymous_variant,p.S44=,ENST00000473045,,c.132A>T,LOW,,,,1;KLHL24,intron_variant,,ENST00000475827,,n.152-12970A>T,MODIFIER,,,,1","Allele":"T","Gene":"ENSG00000114796","Feature":"ENST00000242810","Feature_type":"Transcript","One_Consequence":"synonymous_variant","Consequence":"synonymous_variant","cDNA_position":"427/7331","CDS_position":"132/1803","Protein_position":"44/600","Amino_acids":"S","Codons":"tcA/tcT","Existing_variation":"COSV99664991","TRANSCRIPT_STRAND":1,"SYMBOL":"KLHL24","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:25947","BIOTYPE":"protein_coding","CCDS":"CCDS3246.1","ENSP":"ENSP00000242810","SWISSPROT":"Q6TFL4.137","UNIPARC":"UPI000020A86F","UNIPROT_ISOFORM":"Q6TFL4-1","RefSeq":"NM_001349428.1;NM_001349413.1;NM_017644.3;NM_001349415.1;NM_001349423.1;NM_001349419.1;NM_001349429.1;NM_001349421.1;NM_001349416.1;NM_001349425.1;NM_001349426.1","MANE":"NM_017644.3","APPRIS":"P1","EXON":"3/8","DOMAINS":"PANTHER:PTHR24412;PANTHER:PTHR24412:SF215;Gene3D:3.30.710.10;PIRSF:PIRSF037037","SOMATIC":"1","IMPACT":"LOW","VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","GENE_PHENO":"1","CONTEXT":"TCTTCAGGATC","tumor_bam_uuid":"1ca7c104-a69e-435d-82c6-ea5c0f8c3e30","normal_bam_uuid":"091dbcd7-456a-42df-92a7-881df7997691","case_id":"d63c028b-b6d3-49ce-b63e-261eed3b86df","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"475","Hugo_Symbol":"VPS16","Entrez_Gene_Id":64601,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr20","Start_Position":2866508,"End_Position":2866508,"Strand":"+","Variant_Classification":"Silent","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"T","dbSNP_RS":"rs941805063","Tumor_Sample_Barcode":"TCGA-05-4427-01A-21D-1855-08","Matched_Norm_Sample_Barcode":"TCGA-05-4427-10A-01D-1855-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"736e0134-8b1a-4ff1-9106-ca09c9812ef6","Matched_Norm_Sample_UUID":"486af110-e61e-4e67-b5fa-f0eef31227cb","HGVSc":"c.2454G>T","HGVSp":"p.Thr818=","HGVSp_Short":"p.T818=","Transcript_ID":"ENST00000380445","Exon_Number":"24/24","t_depth":115,"t_ref_count":101,"t_alt_count":14,"n_depth":150,"all_effects":"VPS16,synonymous_variant,p.T818=,ENST00000380445,NM_022575.4,c.2454G>T,LOW,YES,,,1;VPS16,synonymous_variant,p.T674=,ENST00000380469,NM_080413.2,c.2022G>T,LOW,,,,1;PTPRA,intron_variant,,ENST00000380393,NM_002836.3,c.-129+1191G>T,MODIFIER,YES,,,1;VPS16,downstream_gene_variant,,ENST00000417508,,,MODIFIER,,,,1;VPS16,downstream_gene_variant,,ENST00000453689,,,MODIFIER,,,,1;VPS16,non_coding_transcript_exon_variant,,ENST00000466415,,n.484G>T,MODIFIER,,,,1;VPS16,downstream_gene_variant,,ENST00000481812,,,MODIFIER,,,,1;VPS16,downstream_gene_variant,,ENST00000487461,,,MODIFIER,,,,1;VPS16,non_coding_transcript_exon_variant,,ENST00000380443,,n.1601G>T,MODIFIER,,,,1","Allele":"T","Gene":"ENSG00000215305","Feature":"ENST00000380445","Feature_type":"Transcript","One_Consequence":"synonymous_variant","Consequence":"synonymous_variant","cDNA_position":"2484/2708","CDS_position":"2454/2520","Protein_position":"818/839","Amino_acids":"T","Codons":"acG/acT","Existing_variation":"rs941805063;COSV100988605;COSV66796739","TRANSCRIPT_STRAND":1,"SYMBOL":"VPS16","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:14584","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS13036.1","ENSP":"ENSP00000369810","SWISSPROT":"Q9H269.162","UNIPARC":"UPI0000138B87","UNIPROT_ISOFORM":"Q9H269-1","RefSeq":"NM_022575.4","MANE":"NM_022575.4","APPRIS":"P1","EXON":"24/24","DOMAINS":"PANTHER:PTHR12811;PIRSF:PIRSF007949;Pfam:PF04840","gnomAD_AF":"0","gnomAD_AFR_AF":"0","gnomAD_AMR_AF":"0","gnomAD_ASJ_AF":"0","gnomAD_EAS_AF":"0","gnomAD_FIN_AF":"0","gnomAD_NFE_AF":"0","gnomAD_OTH_AF":"0","gnomAD_SAS_AF":"0","MAX_AF":"0","MAX_AF_POPS":"gnomAD_AFR;gnomAD_AMR;gnomAD_ASJ;gnomAD_EAS;gnomAD_FIN;gnomAD_NFE;gnomAD_OTH;gnomAD_SAS","gnomAD_non_cancer_AF":"6.75903993396787e-06","gnomAD_non_cancer_AFR_AF":"0","gnomAD_non_cancer_AMI_AF":"0","gnomAD_non_cancer_AMR_AF":"0","gnomAD_non_cancer_ASJ_AF":"0","gnomAD_non_cancer_EAS_AF":"0","gnomAD_non_cancer_FIN_AF":"0","gnomAD_non_cancer_MID_AF":"0","gnomAD_non_cancer_NFE_AF":"1.54288009071024e-05","gnomAD_non_cancer_OTH_AF":"0","gnomAD_non_cancer_SAS_AF":"0","SOMATIC":"0;1;1","IMPACT":"LOW","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"0;1;1","CONTEXT":"TGCACGGGAGC","tumor_bam_uuid":"db10f9f9-4375-4197-a905-692f64066021","normal_bam_uuid":"b3aca9b1-aee3-4a6c-b1b5-3216a736f741","case_id":"78a24c56-576c-4245-bb42-6603b3d19897","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"285","Hugo_Symbol":"TAB1","Entrez_Gene_Id":10454,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr22","Start_Position":39421932,"End_Position":39421932,"Strand":"+","Variant_Classification":"Silent","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-MP-A4T4-01A-11D-A25L-08","Matched_Norm_Sample_Barcode":"TCGA-MP-A4T4-10A-01D-A25L-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"0d3441eb-429d-4232-8a50-575d61e654c7","Matched_Norm_Sample_UUID":"a2015f6f-1e33-42c2-9022-a642942aec68","HGVSc":"c.882G>A","HGVSp":"p.Lys294=","HGVSp_Short":"p.K294=","Transcript_ID":"ENST00000216160","Exon_Number":"8/11","t_depth":42,"t_ref_count":34,"t_alt_count":8,"n_depth":57,"all_effects":"TAB1,synonymous_variant,p.K294=,ENST00000216160,NM_006116.3,c.882G>A,LOW,YES,,,1;TAB1,synonymous_variant,p.K294=,ENST00000331454,NM_153497.3,c.882G>A,LOW,,,,1;TAB1,non_coding_transcript_exon_variant,,ENST00000473491,,n.198G>A,MODIFIER,,,,1;TAB1,downstream_gene_variant,,ENST00000490819,,,MODIFIER,,,,1","Allele":"A","Gene":"ENSG00000100324","Feature":"ENST00000216160","Feature_type":"Transcript","One_Consequence":"synonymous_variant","Consequence":"synonymous_variant","cDNA_position":"905/3198","CDS_position":"882/1515","Protein_position":"294/504","Amino_acids":"K","Codons":"aaG/aaA","Existing_variation":"COSV99336278","TRANSCRIPT_STRAND":1,"SYMBOL":"TAB1","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:18157","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS13993.1","ENSP":"ENSP00000216160","SWISSPROT":"Q15750.197","TREMBL":"A8K6K3.111","UNIPARC":"UPI0000136861","UNIPROT_ISOFORM":"Q15750-1","RefSeq":"NM_006116.3","MANE":"NM_006116.3","APPRIS":"P1","EXON":"8/11","DOMAINS":"PDB-ENSP_mappings:2j4o.A;PDB-ENSP_mappings:2pom.A;PDB-ENSP_mappings:2pop.A;PDB-ENSP_mappings:2pop.C;PDB-ENSP_mappings:5nzz.A;PDB-ENSP_mappings:5nzz.B;PDB-ENSP_mappings:5nzz.C;PDB-ENSP_mappings:5nzz.D;PROSITE_profiles:PS51746;CDD:cd00143;PANTHER:PTHR13832;PANTHER:PTHR13832:SF533;Gene3D:3.60.40.10;Pfam:PF00481;SMART:SM00332;Superfamily:SSF81606","SOMATIC":"1","IMPACT":"LOW","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","CONTEXT":"TACAAGGCCCT","tumor_bam_uuid":"94f2ba97-d1c2-4130-bdd0-758a192ca45d","normal_bam_uuid":"d5b68ffc-24fa-4b74-8989-66df4f6ff841","case_id":"301ca6e8-7981-4264-b4ae-38f56f7f9225","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"483","Hugo_Symbol":"FSHB","Entrez_Gene_Id":2488,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr11","Start_Position":30232058,"End_Position":30232058,"Strand":"+","Variant_Classification":"Silent","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-44-A47A-01A-21D-A24D-08","Matched_Norm_Sample_Barcode":"TCGA-44-A47A-10A-01D-A24F-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"e730e192-b43c-4a71-950d-4739754ad4e7","Matched_Norm_Sample_UUID":"fa9caac9-ec8a-4b4f-83d3-e07244dd870e","HGVSc":"c.156C>A","HGVSp":"p.Thr52=","HGVSp_Short":"p.T52=","Transcript_ID":"ENST00000254122","Exon_Number":"2/3","t_depth":69,"t_ref_count":42,"t_alt_count":27,"n_depth":67,"all_effects":"FSHB,synonymous_variant,p.T52=,ENST00000417547,NM_001018080.3,c.156C>A,LOW,YES,,,1;FSHB,synonymous_variant,p.T52=,ENST00000533718,NM_001382289.1,c.156C>A,LOW,,,,1;FSHB,synonymous_variant,p.T52=,ENST00000254122,NM_000510.4,c.156C>A,LOW,,,,1;AL358944.1,intron_variant,,ENST00000662729,,n.293-75205G>T,MODIFIER,YES,,,-1","Allele":"A","Gene":"ENSG00000131808","Feature":"ENST00000254122","Feature_type":"Transcript","One_Consequence":"synonymous_variant","Consequence":"synonymous_variant","cDNA_position":"227/1855","CDS_position":"156/390","Protein_position":"52/129","Amino_acids":"T","Codons":"acC/acA","Existing_variation":"COSV99569405","TRANSCRIPT_STRAND":1,"SYMBOL":"FSHB","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:3964","BIOTYPE":"protein_coding","CCDS":"CCDS7868.1","ENSP":"ENSP00000254122","SWISSPROT":"P01225.203","TREMBL":"A0A0F7RQE8.24","UNIPARC":"UPI000003FF95","RefSeq":"NM_000510.4","APPRIS":"P1","EXON":"2/3","DOMAINS":"PDB-ENSP_mappings:1fl7.B;PDB-ENSP_mappings:1fl7.D;PDB-ENSP_mappings:1xwd.B;PDB-ENSP_mappings:1xwd.E;PDB-ENSP_mappings:4ay9.B;PDB-ENSP_mappings:4ay9.E;PDB-ENSP_mappings:4ay9.H;PDB-ENSP_mappings:4mqw.B;PDB-ENSP_mappings:4mqw.E;PDB-ENSP_mappings:4mqw.H;CDD:cd00069;PANTHER:PTHR11515:SF17;PANTHER:PTHR11515;PROSITE_patterns:PS00261;Pfam:PF00007;Gene3D:2.10.90.10;SMART:SM00068;Superfamily:SSF57501","SOMATIC":"1","IMPACT":"LOW","VARIANT_CLASS":"SNV","TSL":5,"PHENO":"1","GENE_PHENO":"1","CONTEXT":"TACACCAGGGT","tumor_bam_uuid":"bbe93a34-c96c-4f65-a73b-77eab6b67d4f","normal_bam_uuid":"4610f708-c031-4523-928d-2f34d7ce10a6","case_id":"7b9479ff-23d6-4689-91f0-02efc94300f9","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2"}
{"X1":"296","Hugo_Symbol":"CACNA1B","Entrez_Gene_Id":774,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr9","Start_Position":137971572,"End_Position":137971572,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"C","Tumor_Sample_Barcode":"TCGA-75-6214-01A-41D-1945-08","Matched_Norm_Sample_Barcode":"TCGA-75-6214-10A-01D-1946-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"386c643d-476f-4d19-ab4b-2f33371f90ec","Matched_Norm_Sample_UUID":"945fa648-2f7f-4447-83cb-18b2d40dbe3f","HGVSc":"c.1523G>C","HGVSp":"p.Arg508Pro","HGVSp_Short":"p.R508P","Transcript_ID":"ENST00000371372","Exon_Number":"11/47","t_depth":38,"t_ref_count":9,"t_alt_count":29,"n_depth":25,"all_effects":"CACNA1B,missense_variant,p.R508P,ENST00000371372,NM_000718.4,c.1523G>C,MODERATE,,tolerated(0.1),benign(0.029),1;CACNA1B,missense_variant,p.R508P,ENST00000371363,,c.1523G>C,MODERATE,,tolerated(0.1),benign(0.029),1;CACNA1B,missense_variant,p.R509P,ENST00000371355,,c.1526G>C,MODERATE,YES,tolerated(0.1),benign(0.063),1;CACNA1B,missense_variant,p.R509P,ENST00000371357,,c.1526G>C,MODERATE,,tolerated(0.1),benign(0.029),1;CACNA1B,missense_variant,p.R508P,ENST00000277549,,c.1523G>C,MODERATE,,tolerated(0.1),benign(0),1;CACNA1B,missense_variant,p.R508P,ENST00000277551,NM_001243812.2,c.1523G>C,MODERATE,,tolerated(0.1),benign(0.029),1","Allele":"C","Gene":"ENSG00000148408","Feature":"ENST00000371372","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"1675/9792","CDS_position":"1523/7020","Protein_position":"508/2339","Amino_acids":"R/P","Codons":"cGg/cCg","Existing_variation":"COSV53131429","TRANSCRIPT_STRAND":1,"SYMBOL":"CACNA1B","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:1389","BIOTYPE":"protein_coding","CCDS":"CCDS59522.1","ENSP":"ENSP00000360423","SWISSPROT":"Q00975.190","UNIPARC":"UPI0000127267","UNIPROT_ISOFORM":"Q00975-1","RefSeq":"NM_000718.4","MANE":"NM_000718.4","APPRIS":"P4","SIFT":"tolerated(0.1)","PolyPhen":"benign(0.029)","EXON":"11/47","DOMAINS":"Gene3D:1.20.120.350;Pfam:PF00520;PANTHER:PTHR45628;PANTHER:PTHR45628:SF6;Superfamily:SSF81324","SOMATIC":"1","IMPACT":"MODERATE","VARIANT_CLASS":"SNV","TSL":5,"PHENO":"1","GENE_PHENO":"1","CONTEXT":"GCCGCGGCGGC","tumor_bam_uuid":"55381b30-133e-4777-a80b-e1acdc71558d","normal_bam_uuid":"82cac576-d1c9-418a-a614-674fcf6696cd","case_id":"32592562-11fa-435a-b40b-2b242bae53aa","COSMIC":"COSM6183080;COSM6183081","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"436","Hugo_Symbol":"VGLL3","Entrez_Gene_Id":389136,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr3","Start_Position":86968606,"End_Position":86968606,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"C","Tumor_Sample_Barcode":"TCGA-44-4112-01A-01D-1105-08","Matched_Norm_Sample_Barcode":"TCGA-44-4112-10A-01D-1458-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"0a6af0ab-9055-4b3a-a2cd-7d8202e08701","Matched_Norm_Sample_UUID":"b31338fd-60d8-48c2-ab4d-cb5064995245","HGVSc":"c.921C>G","HGVSp":"p.Ser307Arg","HGVSp_Short":"p.S307R","Transcript_ID":"ENST00000398399","Exon_Number":"3/4","t_depth":88,"t_ref_count":72,"t_alt_count":16,"n_depth":108,"all_effects":"VGLL3,missense_variant,p.S307R,ENST00000398399,NM_001320494.2&NM_016206.4,c.921C>G,MODERATE,YES,deleterious(0),probably_damaging(0.992),-1;VGLL3,missense_variant,p.S307R,ENST00000383698,NM_001320493.2,c.921C>G,MODERATE,,deleterious(0),probably_damaging(0.997),-1;VGLL3,downstream_gene_variant,,ENST00000494229,,,MODIFIER,,,,-1;VGLL3,missense_variant,p.S9R,ENST00000637106,,c.27C>G,MODERATE,,deleterious_low_confidence(0),probably_damaging(0.997),-1","Allele":"C","Gene":"ENSG00000206538","Feature":"ENST00000398399","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"1327/10438","CDS_position":"921/981","Protein_position":"307/326","Amino_acids":"S/R","Codons":"agC/agG","Existing_variation":"COSV67352340","TRANSCRIPT_STRAND":-1,"SYMBOL":"VGLL3","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:24327","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS43110.1","ENSP":"ENSP00000381436","SWISSPROT":"A8MV65.97","UNIPARC":"UPI0000197E88","UNIPROT_ISOFORM":"A8MV65-1","RefSeq":"NM_001320494.2;NM_016206.4","MANE":"NM_016206.4","APPRIS":"P2","SIFT":"deleterious(0)","PolyPhen":"probably_damaging(0.992)","EXON":"3/4","DOMAINS":"PANTHER:PTHR15950:SF16;PANTHER:PTHR15950","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","CONTEXT":"CCCACGCTGGG","tumor_bam_uuid":"b7d3836d-d351-45c7-a739-a1def84c38ed","normal_bam_uuid":"5ebb5783-b0ba-4f85-8620-a4c3aaa3f9e0","case_id":"68b86559-38b2-41f2-b66e-c3c2b628b14d","COSMIC":"COSM6098500;COSM6098501","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"453","Hugo_Symbol":"FANCM","Entrez_Gene_Id":57697,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr14","Start_Position":45176499,"End_Position":45176499,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"A","Tumor_Seq_Allele1":"A","Tumor_Seq_Allele2":"G","dbSNP_RS":"rs1448270737","Tumor_Sample_Barcode":"TCGA-44-3918-01A-01D-A271-08","Matched_Norm_Sample_Barcode":"TCGA-44-3918-10A-01D-A271-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"cb540d97-ee15-4258-a4c0-a09929771825","Matched_Norm_Sample_UUID":"2b8c8b94-cae7-45e4-91fe-b127abe1df99","HGVSc":"c.3745A>G","HGVSp":"p.Thr1249Ala","HGVSp_Short":"p.T1249A","Transcript_ID":"ENST00000267430","Exon_Number":"14/23","t_depth":57,"t_ref_count":46,"t_alt_count":11,"n_depth":45,"all_effects":"FANCM,missense_variant,p.T1249A,ENST00000267430,NM_020937.4,c.3745A>G,MODERATE,YES,tolerated(1),benign(0),1;FANCM,missense_variant,p.T1223A,ENST00000542564,NM_001308133.2,c.3667A>G,MODERATE,,tolerated(1),benign(0),1;FANCM,missense_variant,p.T765A,ENST00000556250,,c.2293A>G,MODERATE,,tolerated(1),benign(0),1;FANCM,missense_variant,p.T182A,ENST00000554809,,c.544A>G,MODERATE,,tolerated(1),benign(0),1;FANCM,upstream_gene_variant,,ENST00000555013,,,MODIFIER,,,,1","Allele":"G","Gene":"ENSG00000187790","Feature":"ENST00000267430","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"3847/7131","CDS_position":"3745/6147","Protein_position":"1249/2048","Amino_acids":"T/A","Codons":"Aca/Gca","Existing_variation":"rs1448270737;COSV57501264","TRANSCRIPT_STRAND":1,"SYMBOL":"FANCM","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:23168","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS32070.1","ENSP":"ENSP00000267430","SWISSPROT":"Q8IYD8.162","UNIPARC":"UPI000059F032","UNIPROT_ISOFORM":"Q8IYD8-1","RefSeq":"NM_020937.4","MANE":"NM_020937.4","APPRIS":"P1","SIFT":"tolerated(1)","PolyPhen":"benign(0)","EXON":"14/23","DOMAINS":"PDB-ENSP_mappings:4day.C;PANTHER:PTHR14074;PANTHER:PTHR14074:SF33","gnomAD_AF":"4.072e-06","gnomAD_AFR_AF":"0","gnomAD_AMR_AF":"0","gnomAD_ASJ_AF":"0","gnomAD_EAS_AF":"0","gnomAD_FIN_AF":"0","gnomAD_NFE_AF":"8.956e-06","gnomAD_OTH_AF":"0","gnomAD_SAS_AF":"0","MAX_AF":"8.956e-06","MAX_AF_POPS":"gnomAD_NFE","gnomAD_non_cancer_AF":"6.75849014442065e-06","gnomAD_non_cancer_AFR_AF":"0","gnomAD_non_cancer_AMI_AF":"0","gnomAD_non_cancer_AMR_AF":"0","gnomAD_non_cancer_ASJ_AF":"0","gnomAD_non_cancer_EAS_AF":"0","gnomAD_non_cancer_FIN_AF":"0","gnomAD_non_cancer_MID_AF":"0","gnomAD_non_cancer_NFE_AF":"1.54311001097085e-05","gnomAD_non_cancer_OTH_AF":"0","gnomAD_non_cancer_SAS_AF":"0","SOMATIC":"0;1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"0;1","GENE_PHENO":"1","CONTEXT":"AACATACATCA","tumor_bam_uuid":"677301fe-712f-4ddd-874e-a9d530f397c8","normal_bam_uuid":"e8cdfe3d-3f9c-4c71-a423-79a8e78f2604","case_id":"6e3b6b72-142d-4b8d-a462-28a205796e41","COSMIC":"COSM6075796","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"45","Hugo_Symbol":"RNASE11","Entrez_Gene_Id":122651,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr14","Start_Position":20584137,"End_Position":20584137,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"A","dbSNP_RS":"rs752786357","Tumor_Sample_Barcode":"TCGA-86-8075-01A-11D-2238-08","Matched_Norm_Sample_Barcode":"TCGA-86-8075-10A-01D-2238-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"edc1d956-747a-41fe-b825-f07486629b65","Matched_Norm_Sample_UUID":"bef25d55-1f0d-4c42-8771-88c84a639583","HGVSc":"c.338C>T","HGVSp":"p.Ser113Leu","HGVSp_Short":"p.S113L","Transcript_ID":"ENST00000398008","Exon_Number":"3/3","t_depth":48,"t_ref_count":36,"t_alt_count":12,"n_depth":55,"all_effects":"RNASE11,missense_variant,p.S113L,ENST00000553849,NM_145250.3,c.338C>T,MODERATE,YES,deleterious(0),probably_damaging(0.94),-1;RNASE11,missense_variant,p.S113L,ENST00000398009,,c.338C>T,MODERATE,,deleterious(0),probably_damaging(0.94),-1;RNASE11,missense_variant,p.S113L,ENST00000432835,,c.338C>T,MODERATE,,deleterious(0),probably_damaging(0.94),-1;RNASE11,missense_variant,p.S113L,ENST00000555841,,c.338C>T,MODERATE,,deleterious(0),probably_damaging(0.94),-1;RNASE11,missense_variant,p.S113L,ENST00000620912,,c.338C>T,MODERATE,,deleterious(0),probably_damaging(0.94),-1;RNASE11,missense_variant,p.S113L,ENST00000398008,,c.338C>T,MODERATE,,deleterious(0),probably_damaging(0.94),-1;RNASE11,missense_variant,p.S113L,ENST00000443456,,c.338C>T,MODERATE,,deleterious(0),probably_damaging(0.94),-1;RNASE11,missense_variant,p.S113L,ENST00000413502,,c.338C>T,MODERATE,,deleterious(0),probably_damaging(0.94),-1;RNASE11,missense_variant,p.S113L,ENST00000557105,,c.338C>T,MODERATE,,deleterious(0),probably_damaging(0.94),-1;RNASE11,missense_variant,p.S113L,ENST00000557503,,c.338C>T,MODERATE,,deleterious(0),probably_damaging(0.94),-1;RNASE11,missense_variant,p.S113L,ENST00000554842,,c.338C>T,MODERATE,,deleterious(0),probably_damaging(0.94),-1;AL163195.3,downstream_gene_variant,,ENST00000555283,,,MODIFIER,YES,,,-1;AL163195.3,3_prime_UTR_variant,,ENST00000335950,,c.*543C>T,MODIFIER,,,,-1;AL163195.2,upstream_gene_variant,,ENST00000553604,,,MODIFIER,,,,1;AL163195.2,upstream_gene_variant,,ENST00000554006,,,MODIFIER,,,,1;AL163195.2,upstream_gene_variant,,ENST00000554529,,,MODIFIER,,,,1;AL163195.2,upstream_gene_variant,,ENST00000556487,,,MODIFIER,,,,1;AL163195.2,upstream_gene_variant,,ENST00000671014,,,MODIFIER,YES,,,1","Allele":"A","Gene":"ENSG00000173464","Feature":"ENST00000398008","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"526/872","CDS_position":"338/600","Protein_position":"113/199","Amino_acids":"S/L","Codons":"tCg/tTg","Existing_variation":"rs752786357;COSV60087346","TRANSCRIPT_STRAND":-1,"SYMBOL":"RNASE11","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:19269","BIOTYPE":"protein_coding","CCDS":"CCDS9553.1","ENSP":"ENSP00000381092","SWISSPROT":"Q8TAA1.133","TREMBL":"Q5GAN5.125","UNIPARC":"UPI000000CC00","APPRIS":"P1","SIFT":"deleterious(0)","PolyPhen":"probably_damaging(0.94)","EXON":"3/3","DOMAINS":"CDD:cd00163;PANTHER:PTHR11437:SF22;PANTHER:PTHR11437;Pfam:PF00074;Gene3D:3.10.130.10;Superfamily:SSF54076","gnomAD_AF":"3.977e-06","gnomAD_AFR_AF":"0","gnomAD_AMR_AF":"0","gnomAD_ASJ_AF":"0","gnomAD_EAS_AF":"5.437e-05","gnomAD_FIN_AF":"0","gnomAD_NFE_AF":"0","gnomAD_OTH_AF":"0","gnomAD_SAS_AF":"0","MAX_AF":"5.437e-05","MAX_AF_POPS":"gnomAD_EAS","SOMATIC":"0;1","IMPACT":"MODERATE","VARIANT_CLASS":"SNV","TSL":2,"PHENO":"0;1","CONTEXT":"TGCACGATCCG","tumor_bam_uuid":"facd5a61-b05a-4411-9d0e-ecadd63c6307","normal_bam_uuid":"2b3e3b13-34c9-4cbf-bf31-79bf3df2f0c8","case_id":"8869000d-09d7-465a-ac32-54d1935c43e7","COSMIC":"COSM1514948","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2"}
{"X1":"36","Hugo_Symbol":"CD8A","Entrez_Gene_Id":925,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr2","Start_Position":86790671,"End_Position":86790671,"Strand":"+","Variant_Classification":"Silent","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"T","dbSNP_RS":"rs752636744","Tumor_Sample_Barcode":"TCGA-99-8025-01A-11D-2238-08","Matched_Norm_Sample_Barcode":"TCGA-99-8025-10A-01D-2238-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"6dcfb0d1-85c6-453b-9c2d-774545504b1c","Matched_Norm_Sample_UUID":"d25a3ca9-39ef-4fff-968a-1f2056aaf43e","HGVSc":"c.60G>A","HGVSp":"p.Arg20=","HGVSp_Short":"p.R20=","Transcript_ID":"ENST00000283635","Exon_Number":"2/6","t_depth":33,"t_ref_count":24,"t_alt_count":9,"n_depth":16,"all_effects":"CD8A,synonymous_variant,p.R20=,ENST00000409511,NM_001145873.1&NM_001382698.1,c.60G>A,LOW,YES,,,-1;CD8A,synonymous_variant,p.R20=,ENST00000283635,NM_001768.7,c.60G>A,LOW,,,,-1;CD8A,synonymous_variant,p.R20=,ENST00000352580,NM_171827.4,c.60G>A,LOW,,,,-1;CD8A,synonymous_variant,p.R20=,ENST00000409781,,c.60G>A,LOW,,,,-1","Allele":"T","Gene":"ENSG00000153563","Feature":"ENST00000283635","Feature_type":"Transcript","One_Consequence":"synonymous_variant","Consequence":"synonymous_variant","cDNA_position":"148/2106","CDS_position":"60/708","Protein_position":"20/235","Amino_acids":"R","Codons":"agG/agA","Existing_variation":"rs752636744;COSV52157990","TRANSCRIPT_STRAND":-1,"SYMBOL":"CD8A","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:1706","BIOTYPE":"protein_coding","CCDS":"CCDS1992.1","ENSP":"ENSP00000283635","SWISSPROT":"P01732.210","UNIPARC":"UPI00001273B4","UNIPROT_ISOFORM":"P01732-1","RefSeq":"NM_001768.7","MANE":"NM_001768.7","APPRIS":"P4","EXON":"2/6","DOMAINS":"Cleavage_site_(Signalp):SignalP-noTM;PANTHER:PTHR10441","gnomAD_AF":"4.462e-06","gnomAD_AFR_AF":"0","gnomAD_AMR_AF":"0","gnomAD_ASJ_AF":"0","gnomAD_EAS_AF":"0","gnomAD_FIN_AF":"0","gnomAD_NFE_AF":"0","gnomAD_OTH_AF":"0","gnomAD_SAS_AF":"3.329e-05","MAX_AF":"3.329e-05","MAX_AF_POPS":"gnomAD_SAS","SOMATIC":"0;1","IMPACT":"LOW","VARIANT_CLASS":"SNV","TSL":1,"PHENO":"0;1","GENE_PHENO":"1","CONTEXT":"CTCGGCCTGGC","tumor_bam_uuid":"dff849b7-8eca-48dc-9d2d-8a3422ae4ece","normal_bam_uuid":"399666ad-7274-4b23-a2c2-049c32c91301","case_id":"84c3ba70-afa7-4b69-be69-7ec8d6022c56","COSMIC":"COSM6158995;COSM6158996","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2"}
{"X1":"548","Hugo_Symbol":"POU6F2","Entrez_Gene_Id":11281,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr7","Start_Position":39085935,"End_Position":39085935,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"A","dbSNP_RS":"rs1377034885","Tumor_Sample_Barcode":"TCGA-95-7947-01A-11D-2184-08","Matched_Norm_Sample_Barcode":"TCGA-95-7947-10A-01D-2184-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"9a9ed047-e91a-46e2-a054-82f000bc35ea","Matched_Norm_Sample_UUID":"81a2d022-e55f-49c7-856c-9258fd01c9e5","HGVSc":"c.94G>A","HGVSp":"p.Glu32Lys","HGVSp_Short":"p.E32K","Transcript_ID":"ENST00000403058","Exon_Number":"3/11","t_depth":66,"t_ref_count":49,"t_alt_count":16,"n_depth":48,"all_effects":"POU6F2,missense_variant,p.E61K,ENST00000518318,NM_001370959.1,c.181G>A,MODERATE,YES,deleterious_low_confidence(0.01),probably_damaging(0.98),1;POU6F2,missense_variant,p.E32K,ENST00000403058,NM_007252.4&NM_001166018.2,c.94G>A,MODERATE,,deleterious_low_confidence(0.01),benign(0.152),1;POU6F2,non_coding_transcript_exon_variant,,ENST00000673818,,n.171G>A,MODIFIER,,,,1;POU6F2,non_coding_transcript_exon_variant,,ENST00000517348,,n.555G>A,MODIFIER,,,,1;POU6F2,non_coding_transcript_exon_variant,,ENST00000524147,,n.318G>A,MODIFIER,,,,1;POU6F2,non_coding_transcript_exon_variant,,ENST00000520104,,n.151G>A,MODIFIER,,,,1;POU6F2,non_coding_transcript_exon_variant,,ENST00000451021,,n.233G>A,MODIFIER,,,,1;POU6F2,non_coding_transcript_exon_variant,,ENST00000464276,,n.75G>A,MODIFIER,,,,1;POU6F2,3_prime_UTR_variant,,ENST00000673891,,c.*181G>A,MODIFIER,,,,1;POU6F2,3_prime_UTR_variant,,ENST00000674059,,c.*181G>A,MODIFIER,,,,1","Allele":"A","Gene":"ENSG00000106536","Feature":"ENST00000403058","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"237/2316","CDS_position":"94/2076","Protein_position":"32/691","Amino_acids":"E/K","Codons":"Gag/Aag","Existing_variation":"rs1377034885;COSV68876998","TRANSCRIPT_STRAND":1,"SYMBOL":"POU6F2","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:21694","BIOTYPE":"protein_coding","CCDS":"CCDS34620.2","ENSP":"ENSP00000384004","SWISSPROT":"P78424.179","UNIPARC":"UPI0000480E81","UNIPROT_ISOFORM":"P78424-1","RefSeq":"NM_007252.4;NM_001166018.2","APPRIS":"A2","SIFT":"deleterious_low_confidence(0.01)","PolyPhen":"benign(0.152)","EXON":"3/11","DOMAINS":"MobiDB_lite:mobidb-lite","gnomAD_AF":"3.991e-06","gnomAD_AFR_AF":"0","gnomAD_AMR_AF":"0","gnomAD_ASJ_AF":"0","gnomAD_EAS_AF":"0","gnomAD_FIN_AF":"0","gnomAD_NFE_AF":"8.839e-06","gnomAD_OTH_AF":"0","gnomAD_SAS_AF":"0","MAX_AF":"8.839e-06","MAX_AF_POPS":"gnomAD_NFE","SOMATIC":"0;1","IMPACT":"MODERATE","VARIANT_CLASS":"SNV","TSL":5,"PHENO":"0;1","GENE_PHENO":"1","CONTEXT":"GAGGTGAGGAC","tumor_bam_uuid":"e869b698-0e87-47db-9090-d3d952de2d37","normal_bam_uuid":"0cc63227-1592-473c-9a39-ead01b554831","case_id":"e0acafdd-06d0-48a6-bd68-577ef666a419","COSMIC":"COSM6177914","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"454","Hugo_Symbol":"ZC3H12C","Entrez_Gene_Id":85463,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr11","Start_Position":110152935,"End_Position":110152935,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"T","Tumor_Sample_Barcode":"TCGA-44-3918-01A-01D-1105-08","Matched_Norm_Sample_Barcode":"TCGA-44-3918-10A-01D-A271-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"7f456c3f-58e3-43f1-9f76-4422451528a5","Matched_Norm_Sample_UUID":"2b8c8b94-cae7-45e4-91fe-b127abe1df99","HGVSc":"c.790G>T","HGVSp":"p.Val264Leu","HGVSp_Short":"p.V264L","Transcript_ID":"ENST00000278590","Exon_Number":"3/6","t_depth":29,"t_ref_count":24,"t_alt_count":5,"n_depth":17,"all_effects":"ZC3H12C,missense_variant,p.V233L,ENST00000453089,,c.697G>T,MODERATE,,deleterious(0.01),possibly_damaging(0.832),1;ZC3H12C,missense_variant,p.V264L,ENST00000278590,NM_033390.2,c.790G>T,MODERATE,,deleterious(0.01),possibly_damaging(0.832),1;ZC3H12C,missense_variant,p.V265L,ENST00000528673,,c.793G>T,MODERATE,YES,deleterious(0.01),possibly_damaging(0.832),1;RDX,intron_variant,,ENST00000645527,,c.*251-21205C>A,MODIFIER,,,,-1","Allele":"T","Gene":"ENSG00000149289","Feature":"ENST00000278590","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"810/8776","CDS_position":"790/2652","Protein_position":"264/883","Amino_acids":"V/L","Codons":"Gta/Tta","Existing_variation":"COSV53708896","TRANSCRIPT_STRAND":1,"SYMBOL":"ZC3H12C","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:29362","BIOTYPE":"protein_coding","CCDS":"CCDS44727.1","ENSP":"ENSP00000278590","SWISSPROT":"Q9C0D7.110","UNIPARC":"UPI0000DD80B8","UNIPROT_ISOFORM":"Q9C0D7-1","RefSeq":"NM_033390.2","MANE":"NM_033390.2","SIFT":"deleterious(0.01)","PolyPhen":"possibly_damaging(0.832)","EXON":"3/6","DOMAINS":"CDD:cd18729;PANTHER:PTHR12876;PANTHER:PTHR12876:SF36;Gene3D:3.40.50.11980;Pfam:PF11977","SOMATIC":"1","IMPACT":"MODERATE","VARIANT_CLASS":"SNV","TSL":2,"PHENO":"1","CONTEXT":"AAGAAGTATTT","tumor_bam_uuid":"efd81f68-1adc-48af-881b-140a95b7e420","normal_bam_uuid":"e8cdfe3d-3f9c-4c71-a423-79a8e78f2604","case_id":"6e3b6b72-142d-4b8d-a462-28a205796e41","COSMIC":"COSM6067401","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"363","Hugo_Symbol":"ALPK3","Entrez_Gene_Id":57538,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr15","Start_Position":84857281,"End_Position":84857281,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-L9-A444-01A-21D-A24D-08","Matched_Norm_Sample_Barcode":"TCGA-L9-A444-10A-01D-A24F-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"de0f0992-1f94-419e-9361-aae7fc6d3c0c","Matched_Norm_Sample_UUID":"a3bb7a09-4e05-4d53-8a74-d6a2a0906918","HGVSc":"c.2543C>A","HGVSp":"p.Pro848Gln","HGVSp_Short":"p.P848Q","Transcript_ID":"ENST00000258888","Exon_Number":"6/14","t_depth":32,"t_ref_count":25,"t_alt_count":7,"n_depth":42,"all_effects":"ALPK3,missense_variant,p.P848Q,ENST00000258888,NM_020778.5,c.2543C>A,MODERATE,YES,tolerated_low_confidence(0.13),benign(0.007),1;AC012291.1,upstream_gene_variant,,ENST00000364121,,,MODIFIER,YES,,,-1","Allele":"A","Gene":"ENSG00000136383","Feature":"ENST00000258888","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"2640/10238","CDS_position":"2543/5118","Protein_position":"848/1705","Amino_acids":"P/Q","Codons":"cCg/cAg","Existing_variation":"COSV99360954","TRANSCRIPT_STRAND":1,"SYMBOL":"ALPK3","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:17574","BIOTYPE":"protein_coding","CANONICAL":"YES","ENSP":"ENSP00000258888","SWISSPROT":"Q96L96.132","UNIPARC":"UPI00001FEA90","RefSeq":"NM_020778.5","MANE":"NM_020778.5","APPRIS":"P1","SIFT":"tolerated_low_confidence(0.13)","PolyPhen":"benign(0.007)","EXON":"6/14","DOMAINS":"PANTHER:PTHR47091;PANTHER:PTHR47091:SF1","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","GENE_PHENO":"1","CONTEXT":"AGTGCCGTGTA","tumor_bam_uuid":"056f87f3-29df-4bba-a0a9-837fde909483","normal_bam_uuid":"258890ee-95cb-44ba-bec5-a8cf42d37181","case_id":"4a1d30e8-e93a-41ed-8e54-08eaff6556a7","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"328","Hugo_Symbol":"KCNA4","Entrez_Gene_Id":3739,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr11","Start_Position":30011329,"End_Position":30011329,"Strand":"+","Variant_Classification":"Silent","Variant_Type":"SNP","Reference_Allele":"T","Tumor_Seq_Allele1":"T","Tumor_Seq_Allele2":"C","Tumor_Sample_Barcode":"TCGA-44-6775-01A-11D-1855-08","Matched_Norm_Sample_Barcode":"TCGA-44-6775-10A-01D-1855-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"7a70a44f-84f3-440a-b898-dc3a0eff748e","Matched_Norm_Sample_UUID":"a614b2ce-3d15-4aa0-8403-1427e7ccf847","HGVSc":"c.1350A>G","HGVSp":"p.Arg450=","HGVSp_Short":"p.R450=","Transcript_ID":"ENST00000328224","Exon_Number":"2/2","t_depth":88,"t_ref_count":72,"t_alt_count":16,"n_depth":71,"all_effects":"KCNA4,synonymous_variant,p.R450=,ENST00000328224,NM_002233.4,c.1350A>G,LOW,YES,,,-1;KCNA4,downstream_gene_variant,,ENST00000526518,,,MODIFIER,,,,-1","Allele":"C","Gene":"ENSG00000182255","Feature":"ENST00000328224","Feature_type":"Transcript","One_Consequence":"synonymous_variant","Consequence":"synonymous_variant","cDNA_position":"2591/4190","CDS_position":"1350/1962","Protein_position":"450/653","Amino_acids":"R","Codons":"cgA/cgG","Existing_variation":"COSV60256061","TRANSCRIPT_STRAND":-1,"SYMBOL":"KCNA4","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:6222","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS41629.1","ENSP":"ENSP00000328511","SWISSPROT":"P22459.185","UNIPARC":"UPI00001649FF","RefSeq":"NM_002233.4","MANE":"NM_002233.4","APPRIS":"P1","EXON":"2/2","DOMAINS":"Prints:PR00169;Superfamily:SSF81324;Pfam:PF00520;Gene3D:1.20.120.350;PANTHER:PTHR11537;PANTHER:PTHR11537:SF45;Low_complexity_(Seg):seg","SOMATIC":"1","IMPACT":"LOW","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","GENE_PHENO":"1","CONTEXT":"AATACTCGGAC","tumor_bam_uuid":"9ff74f6c-9ff4-40df-9de9-0486c92a6a45","normal_bam_uuid":"6653374b-e8bb-4844-b53f-aaae62713ff5","case_id":"3c4ff061-d214-4d1c-8d2e-3034f207c252","COSMIC":"COSM6068277","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"426","Hugo_Symbol":"SLFN11","Entrez_Gene_Id":91607,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr17","Start_Position":35360303,"End_Position":35360303,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"T","Tumor_Sample_Barcode":"TCGA-05-4424-01A-22D-1855-08","Matched_Norm_Sample_Barcode":"TCGA-05-4424-10A-01D-1855-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"fc500ff5-24c8-4965-94da-b4afafafe2dd","Matched_Norm_Sample_UUID":"e785fabf-7b0f-49cd-a423-0c6372147f9b","HGVSc":"c.1138C>A","HGVSp":"p.Pro380Thr","HGVSp_Short":"p.P380T","Transcript_ID":"ENST00000308377","Exon_Number":"3/5","t_depth":118,"t_ref_count":90,"t_alt_count":28,"n_depth":87,"all_effects":"SLFN11,missense_variant,p.P380T,ENST00000394566,NM_001104590.2&NM_001376008.1&NM_001376011.1&NM_001104588.2&NM_001376007.1&NM_001376010.1&NM_001104587.2,c.1138C>A,MODERATE,YES,tolerated(0.4),probably_damaging(0.957),-1;SLFN11,missense_variant,p.P380T,ENST00000308377,NM_152270.4&NM_001376009.1&NM_001104589.2&NM_001376012.1,c.1138C>A,MODERATE,,tolerated(0.4),probably_damaging(0.957),-1;SLFN11,downstream_gene_variant,,ENST00000427966,,,MODIFIER,,,,-1;SLFN11,downstream_gene_variant,,ENST00000430814,,,MODIFIER,,,,-1;SLFN11,downstream_gene_variant,,ENST00000441608,,,MODIFIER,,,,-1;SLFN11,downstream_gene_variant,,ENST00000588579,,,MODIFIER,,,,-1;SLFN11,downstream_gene_variant,,ENST00000589811,,,MODIFIER,,,,-1;SLFN11,downstream_gene_variant,,ENST00000591682,,,MODIFIER,,,,-1;SLFN11,downstream_gene_variant,,ENST00000592122,,,MODIFIER,,,,-1;SLFN11,non_coding_transcript_exon_variant,,ENST00000586099,,n.295C>A,MODIFIER,,,,-1;SLFN11,downstream_gene_variant,,ENST00000589562,,,MODIFIER,,,,-1","Allele":"T","Gene":"ENSG00000172716","Feature":"ENST00000308377","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"1291/4910","CDS_position":"1138/2706","Protein_position":"380/901","Amino_acids":"P/T","Codons":"Cca/Aca","Existing_variation":"COSV57697363;COSV57699593","TRANSCRIPT_STRAND":-1,"SYMBOL":"SLFN11","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:26633","BIOTYPE":"protein_coding","CCDS":"CCDS11294.1","ENSP":"ENSP00000312402","SWISSPROT":"Q7Z7L1.140","UNIPARC":"UPI0000140B0E","RefSeq":"NM_152270.4;NM_001376009.1;NM_001104589.2;NM_001376012.1","APPRIS":"P1","SIFT":"tolerated(0.4)","PolyPhen":"probably_damaging(0.957)","EXON":"3/5","DOMAINS":"PANTHER:PTHR12155;PANTHER:PTHR12155:SF43;Low_complexity_(Seg):seg","SOMATIC":"1;1","IMPACT":"MODERATE","VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1;1","CONTEXT":"CACTGGTCTGC","tumor_bam_uuid":"64919ef7-1106-41b9-9941-4928231ab2eb","normal_bam_uuid":"671061d8-9a23-4559-8859-51408c3f4939","case_id":"66763a0c-6cda-4832-a0cc-e7b496d78eaa","COSMIC":"COSM6080575","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"390","Hugo_Symbol":"EPHB6","Entrez_Gene_Id":2051,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr7","Start_Position":142866266,"End_Position":142866266,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"T","dbSNP_RS":"rs772331271","Tumor_Sample_Barcode":"TCGA-L9-A7SV-01A-11D-A397-08","Matched_Norm_Sample_Barcode":"TCGA-L9-A7SV-10A-01D-A39A-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"d78a7316-187d-4fbd-9ea5-5b5d94569b5a","Matched_Norm_Sample_UUID":"a8d3d6c2-487c-4d5c-a93e-49d2b40c5b48","HGVSc":"c.1412G>T","HGVSp":"p.Ser471Ile","HGVSp_Short":"p.S471I","Transcript_ID":"ENST00000619012","Exon_Number":"9/20","t_depth":41,"t_ref_count":26,"t_alt_count":15,"n_depth":14,"all_effects":"EPHB6,missense_variant,p.S471I,ENST00000619012,,c.1412G>T,MODERATE,YES,deleterious(0),probably_damaging(0.956),1;EPHB6,missense_variant,p.S471I,ENST00000652003,NM_004445.6,c.1412G>T,MODERATE,,deleterious(0),probably_damaging(0.956),1;EPHB6,missense_variant,p.S471I,ENST00000422643,,c.1412G>T,MODERATE,,deleterious(0),probably_damaging(0.956),1;EPHB6,missense_variant,p.S178I,ENST00000411471,NM_001280794.2&NM_001280795.2,c.533G>T,MODERATE,,deleterious(0),possibly_damaging(0.867),1;TRPV6,downstream_gene_variant,,ENST00000359396,NM_018646.6,,MODIFIER,YES,,,-1;EPHB6,upstream_gene_variant,,ENST00000476059,,,MODIFIER,,,,1;EPHB6,downstream_gene_variant,,ENST00000497095,,,MODIFIER,,,,1;EPHB6,upstream_gene_variant,,ENST00000617632,,,MODIFIER,,,,1;EPHB6,3_prime_UTR_variant,,ENST00000614832,,c.*1194G>T,MODIFIER,,,,1;EPHB6,3_prime_UTR_variant,,ENST00000611578,,c.*589G>T,MODIFIER,,,,1;EPHB6,non_coding_transcript_exon_variant,,ENST00000616380,,n.2398G>T,MODIFIER,,,,1;EPHB6,upstream_gene_variant,,ENST00000471581,,,MODIFIER,,,,1;TRPV6,downstream_gene_variant,,ENST00000485138,,,MODIFIER,,,,-1;EPHB6,upstream_gene_variant,,ENST00000486511,,,MODIFIER,,,,1;TRPV6,downstream_gene_variant,,ENST00000615386,,,MODIFIER,,,,-1","Allele":"T","Gene":"ENSG00000106123","Feature":"ENST00000619012","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"2164/4011","CDS_position":"1412/3069","Protein_position":"471/1022","Amino_acids":"S/I","Codons":"aGc/aTc","Existing_variation":"rs772331271;COSV100844405;COSV63891302","TRANSCRIPT_STRAND":1,"SYMBOL":"EPHB6","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:3396","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS5873.2","ENSP":"ENSP00000481994","TREMBL":"F8WCM8.76","UNIPARC":"UPI0003EAF8C7","APPRIS":"P1","SIFT":"deleterious(0)","PolyPhen":"probably_damaging(0.956)","EXON":"9/20","DOMAINS":"CDD:cd00063;Gene3D:2.60.40.10;PIRSF:PIRSF000666;Superfamily:SSF49265;PROSITE_profiles:PS50853;PANTHER:PTHR24416;PANTHER:PTHR24416:SF326","gnomAD_AF":"0","gnomAD_AFR_AF":"0","gnomAD_AMR_AF":"0","gnomAD_ASJ_AF":"0","gnomAD_EAS_AF":"0","gnomAD_FIN_AF":"0","gnomAD_NFE_AF":"0","gnomAD_OTH_AF":"0","gnomAD_SAS_AF":"0","MAX_AF":"0","MAX_AF_POPS":"gnomAD_AFR;gnomAD_AMR;gnomAD_ASJ;gnomAD_EAS;gnomAD_FIN;gnomAD_NFE;gnomAD_OTH;gnomAD_SAS","SOMATIC":"0;1;1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"0;1;1","CONTEXT":"GCTCAGCCCTG","tumor_bam_uuid":"d3ccde1f-1ad8-4ef0-95f7-fead69c4f111","normal_bam_uuid":"15756a48-affe-40bd-a9ed-b218270439a2","case_id":"54e90433-5218-4d83-848f-f995ecba2a63","hotspot":"N","RNA_Support":"Unknown","callers":"muse;varscan2"}
{"X1":"216","Hugo_Symbol":"OR5AR1","Entrez_Gene_Id":219493,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr11","Start_Position":56664243,"End_Position":56664243,"Strand":"+","Variant_Classification":"Silent","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-38-4625-01A-01D-1553-08","Matched_Norm_Sample_Barcode":"TCGA-38-4625-11A-01D-1553-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"6f317d31-c9a4-4345-b5b1-b75776536402","Matched_Norm_Sample_UUID":"fd427c46-8988-4947-9cc1-c129b6c3981a","HGVSc":"c.558C>A","HGVSp":"p.Ala186=","HGVSp_Short":"p.A186=","Transcript_ID":"ENST00000624596","Exon_Number":"1/1","t_depth":248,"t_ref_count":181,"t_alt_count":66,"n_depth":202,"all_effects":"OR5AR1,synonymous_variant,p.A186=,ENST00000624596,NM_001004730.1,c.558C>A,LOW,YES,,,1;OR2AH1P,downstream_gene_variant,,ENST00000641232,,,MODIFIER,YES,,,-1;OR2AH1P,downstream_gene_variant,,ENST00000425717,,,MODIFIER,,,,-1","Allele":"A","Gene":"ENSG00000172459","Feature":"ENST00000624596","Feature_type":"Transcript","One_Consequence":"synonymous_variant","Consequence":"synonymous_variant","cDNA_position":"582/1026","CDS_position":"558/933","Protein_position":"186/310","Amino_acids":"A","Codons":"gcC/gcA","Existing_variation":"COSV57254592","TRANSCRIPT_STRAND":1,"SYMBOL":"OR5AR1","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:15260","BIOTYPE":"protein_coding","CANONICAL":"YES","ENSP":"ENSP00000485240","SWISSPROT":"Q8NGP9.140","TREMBL":"A0A126GVM6.25","UNIPARC":"UPI0000041C93","RefSeq":"NM_001004730.1","APPRIS":"P1","EXON":"1/1","DOMAINS":"Gene3D:1.20.1070.10;Pfam:PF13853;Prints:PR00245;PROSITE_profiles:PS50262;PANTHER:PTHR26452;PANTHER:PTHR26452:SF315;Superfamily:SSF81321;CDD:cd15944","gnomAD_non_cancer_AF":"6.76388981446507e-06","gnomAD_non_cancer_AFR_AF":"2.43309004872572e-05","gnomAD_non_cancer_AMI_AF":"0","gnomAD_non_cancer_AMR_AF":"0","gnomAD_non_cancer_ASJ_AF":"0","gnomAD_non_cancer_EAS_AF":"0","gnomAD_non_cancer_FIN_AF":"0","gnomAD_non_cancer_MID_AF":"0","gnomAD_non_cancer_NFE_AF":"0","gnomAD_non_cancer_OTH_AF":"0","gnomAD_non_cancer_SAS_AF":"0","SOMATIC":"1","IMPACT":"LOW","PICK":1,"VARIANT_CLASS":"SNV","PHENO":"1","CONTEXT":"TTGGCCCTCTC","tumor_bam_uuid":"0ccddc54-9edd-433a-8ea6-1913801265e5","normal_bam_uuid":"2e9551f1-c17e-45e5-bcc3-5d2a5904b17e","case_id":"0ea4920f-f4c8-4590-84b3-eb419824e144","COSMIC":"COSM6069545","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"340","Hugo_Symbol":"FYB1","Entrez_Gene_Id":2533,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr5","Start_Position":39119033,"End_Position":39119033,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"A","dbSNP_RS":"rs1355574545","Tumor_Sample_Barcode":"TCGA-64-5781-01A-01D-1625-08","Matched_Norm_Sample_Barcode":"TCGA-64-5781-10A-01D-1625-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce","Matched_Norm_Sample_UUID":"3bd98c92-eaf2-4469-bc17-509bb7cd2197","HGVSc":"c.2104G>T","HGVSp":"p.Asp702Tyr","HGVSp_Short":"p.D702Y","Transcript_ID":"ENST00000351578","Exon_Number":"15/18","t_depth":18,"t_ref_count":14,"t_alt_count":4,"n_depth":12,"all_effects":"FYB1,missense_variant,p.D748Y,ENST00000512982,NM_001465.6&NM_001349333.2,c.2242G>T,MODERATE,,deleterious(0),possibly_damaging(0.879),-1;FYB1,missense_variant,p.D758Y,ENST00000646045,NM_001243093.2,c.2272G>T,MODERATE,YES,deleterious(0),possibly_damaging(0.879),-1;FYB1,missense_variant,p.D702Y,ENST00000351578,NM_199335.5&NM_018594.2,c.2104G>T,MODERATE,,deleterious(0),possibly_damaging(0.905),-1;FYB1,missense_variant,p.D702Y,ENST00000515010,,c.2104G>T,MODERATE,,deleterious(0),possibly_damaging(0.905),-1;FYB1,3_prime_UTR_variant,,ENST00000646444,,c.*219G>T,MODIFIER,,,,-1;FYB1,non_coding_transcript_exon_variant,,ENST00000647313,,n.236G>T,MODIFIER,,,,-1","Allele":"A","Gene":"ENSG00000082074","Feature":"ENST00000351578","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"2252/4691","CDS_position":"2104/2352","Protein_position":"702/783","Amino_acids":"D/Y","Codons":"Gat/Tat","Existing_variation":"rs1355574545;COSV60957295","TRANSCRIPT_STRAND":-1,"SYMBOL":"FYB1","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:4036","BIOTYPE":"protein_coding","CCDS":"CCDS47200.1","ENSP":"ENSP00000316460","SWISSPROT":"O15117.190","UNIPARC":"UPI000020C9D5","UNIPROT_ISOFORM":"O15117-1","RefSeq":"NM_199335.5;NM_018594.2","APPRIS":"A2","SIFT":"deleterious(0)","PolyPhen":"possibly_damaging(0.905)","EXON":"15/18","DOMAINS":"PDB-ENSP_mappings:1ri9.A;Gene3D:2.30.30.40;Pfam:PF14603;PROSITE_profiles:PS50002;PANTHER:PTHR16830;PANTHER:PTHR16830:SF13;Superfamily:SSF50044;CDD:cd11867","SOMATIC":"0;1","IMPACT":"MODERATE","VARIANT_CLASS":"SNV","TSL":1,"PHENO":"0;1","GENE_PHENO":"1","CONTEXT":"ACCATCATACT","tumor_bam_uuid":"d7efa6c5-a0f2-4845-a009-5417944d76d5","normal_bam_uuid":"10e2e3c0-0507-45eb-84ed-dd1edd04ac50","case_id":"41c4c704-825e-49f5-9d54-dbd7d30725e0","COSMIC":"COSM6104218;COSM6104219;COSM6104220;COSM6104221","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2"}
{"X1":"492","Hugo_Symbol":"CSNK1G1","Entrez_Gene_Id":53944,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr15","Start_Position":64214099,"End_Position":64214099,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-95-7948-01A-11D-2184-08","Matched_Norm_Sample_Barcode":"TCGA-95-7948-10A-01D-2184-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"ab3b50c5-0335-4685-acc2-eeadbf2a9c1b","Matched_Norm_Sample_UUID":"984543c0-0d4b-4b68-997e-a8e3a755414d","HGVSc":"c.470C>T","HGVSp":"p.Ser157Leu","HGVSp_Short":"p.S157L","Transcript_ID":"ENST00000303052","Exon_Number":"6/12","t_depth":178,"t_ref_count":137,"t_alt_count":40,"n_depth":184,"all_effects":"CSNK1G1,missense_variant,p.S157L,ENST00000303052,NM_001329606.2&NM_022048.5,c.470C>T,MODERATE,,deleterious(0.04),possibly_damaging(0.484),-1;CSNK1G1,missense_variant,p.S157L,ENST00000635142,,c.470C>T,MODERATE,,deleterious(0.03),benign(0.384),-1;CSNK1G1,missense_variant,p.S157L,ENST00000634811,,c.470C>T,MODERATE,,deleterious(0.03),probably_damaging(0.991),-1;CSNK1G1,missense_variant,p.S157L,ENST00000634654,,c.470C>T,MODERATE,,deleterious(0.03),probably_damaging(0.991),-1;CSNK1G1,missense_variant,p.S157L,ENST00000607537,NM_001329605.2,c.470C>T,MODERATE,YES,deleterious(0.03),probably_damaging(0.996),-1;CSNK1G1,missense_variant,p.S157L,ENST00000561349,NM_001329607.2,c.470C>T,MODERATE,,deleterious(0.03),possibly_damaging(0.484),-1;CSNK1G1,missense_variant,p.S157L,ENST00000606793,,c.470C>T,MODERATE,,deleterious(0.04),possibly_damaging(0.547),-1;CSNK1G1,missense_variant,p.S157L,ENST00000635270,,c.470C>T,MODERATE,,deleterious(0.02),possibly_damaging(0.484),-1;CSNK1G1,downstream_gene_variant,,ENST00000635514,,,MODIFIER,,,,-1;CSNK1G1,missense_variant,p.S157L,ENST00000606225,,c.470C>T,MODERATE,,deleterious(0.04),benign(0.352),-1;AC087632.2,3_prime_UTR_variant,,ENST00000634847,,c.*703C>T,MODIFIER,,,,-1;AC087632.2,3_prime_UTR_variant,,ENST00000634318,,c.*633C>T,MODIFIER,YES,,,-1;CSNK1G1,3_prime_UTR_variant,,ENST00000635529,,c.*195C>T,MODIFIER,,,,-1;CSNK1G1,3_prime_UTR_variant,,ENST00000635324,,c.*55C>T,MODIFIER,,,,-1;AC087632.2,non_coding_transcript_exon_variant,,ENST00000634251,,n.1085C>T,MODIFIER,,,,-1","Allele":"A","Gene":"ENSG00000169118","Feature":"ENST00000303052","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"880/8085","CDS_position":"470/1269","Protein_position":"157/422","Amino_acids":"S/L","Codons":"tCa/tTa","Existing_variation":"COSV57311968","TRANSCRIPT_STRAND":-1,"SYMBOL":"CSNK1G1","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:2454","BIOTYPE":"protein_coding","CCDS":"CCDS10192.2","ENSP":"ENSP00000305777","SWISSPROT":"Q9HCP0.177","TREMBL":"A0A024R5W3.53","UNIPARC":"UPI000003F575","UNIPROT_ISOFORM":"Q9HCP0-1","RefSeq":"NM_001329606.2;NM_022048.5","MANE":"NM_022048.5","SIFT":"deleterious(0.04)","PolyPhen":"possibly_damaging(0.484)","EXON":"6/12","DOMAINS":"PDB-ENSP_mappings:2cmw.A;PROSITE_profiles:PS50011;CDD:cd14126;PANTHER:PTHR11909:SF156;PANTHER:PTHR11909;Gene3D:1.10.510.10;Pfam:PF00069;SMART:SM00220;Superfamily:SSF56112","SOMATIC":"1","IMPACT":"MODERATE","VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","GENE_PHENO":"1","CONTEXT":"TCTTTGAGTGC","tumor_bam_uuid":"695a3d72-7a7e-4433-bef4-9dd9b9398c26","normal_bam_uuid":"96a3c372-1c24-4b6f-a6fd-f04f1eb0166e","case_id":"a52e99d6-a61a-439d-b0b1-ca7a0eabcb04","COSMIC":"COSM6142532","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"180","Hugo_Symbol":"TNRC6A","Entrez_Gene_Id":27327,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr16","Start_Position":24789876,"End_Position":24789876,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"A","Tumor_Seq_Allele1":"A","Tumor_Seq_Allele2":"T","Tumor_Sample_Barcode":"TCGA-49-AARE-01A-11D-A410-08","Matched_Norm_Sample_Barcode":"TCGA-49-AARE-11A-11D-A413-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"9b725f16-ec63-4c7e-8ef1-4306c0b90a5e","Matched_Norm_Sample_UUID":"1531afeb-48e8-4d5f-8ec1-7a3c28cabe34","HGVSc":"c.1234A>T","HGVSp":"p.Ser412Cys","HGVSp_Short":"p.S412C","Transcript_ID":"ENST00000395799","Exon_Number":"6/25","t_depth":49,"t_ref_count":42,"t_alt_count":7,"n_depth":59,"all_effects":"TNRC6A,missense_variant,p.S412C,ENST00000395799,NM_014494.4,c.1234A>T,MODERATE,YES,deleterious(0.02),benign(0.41),1;TNRC6A,missense_variant,p.S412C,ENST00000315183,NM_001351850.2&NM_001330520.3,c.1234A>T,MODERATE,,deleterious(0.02),benign(0.416),1;TNRC6A,upstream_gene_variant,,ENST00000450465,,,MODIFIER,,,,1;TNRC6A,3_prime_UTR_variant,,ENST00000491718,,c.*759A>T,MODIFIER,,,,1;TNRC6A,upstream_gene_variant,,ENST00000567232,,,MODIFIER,,,,1;TNRC6A,upstream_gene_variant,,ENST00000568903,,,MODIFIER,,,,1","Allele":"T","Gene":"ENSG00000090905","Feature":"ENST00000395799","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"1425/8491","CDS_position":"1234/5889","Protein_position":"412/1962","Amino_acids":"S/C","Codons":"Agt/Tgt","Existing_variation":"COSV100170001","TRANSCRIPT_STRAND":1,"SYMBOL":"TNRC6A","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:11969","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS10624.2","ENSP":"ENSP00000379144","SWISSPROT":"Q8NDV7.179","UNIPARC":"UPI000059D33E","UNIPROT_ISOFORM":"Q8NDV7-1","RefSeq":"NM_014494.4","MANE":"NM_014494.4","APPRIS":"P4","SIFT":"deleterious(0.02)","PolyPhen":"benign(0.41)","EXON":"6/25","DOMAINS":"PANTHER:PTHR13020;PANTHER:PTHR13020:SF28","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":5,"PHENO":"1","GENE_PHENO":"1","CONTEXT":"AAGTGAGTGGT","tumor_bam_uuid":"bcf6bb91-301c-4bcf-83ad-61c344f03352","normal_bam_uuid":"b9e06873-1fd4-4bad-a5c3-cd0b5c25e26b","case_id":"cd9e70e4-8622-4a07-8646-63f8275c1737","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"24","Hugo_Symbol":"UBR1","Entrez_Gene_Id":197131,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr15","Start_Position":43067992,"End_Position":43067992,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"T","Tumor_Seq_Allele1":"T","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-86-8359-01A-11D-2323-08","Matched_Norm_Sample_Barcode":"TCGA-86-8359-10A-01D-2323-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"ad3037b7-368c-4f3b-846c-8c7d22ed5029","Matched_Norm_Sample_UUID":"64ff45a3-4800-4868-923e-783abc7364ed","HGVSc":"c.704A>T","HGVSp":"p.His235Leu","HGVSp_Short":"p.H235L","Transcript_ID":"ENST00000290650","Exon_Number":"6/47","t_depth":80,"t_ref_count":50,"t_alt_count":30,"n_depth":93,"all_effects":"UBR1,missense_variant,p.H235L,ENST00000290650,NM_174916.3,c.704A>T,MODERATE,YES,tolerated(0.32),probably_damaging(0.987),-1;UBR1,missense_variant,p.H235L,ENST00000546274,,c.704A>T,MODERATE,,tolerated(0.49),benign(0.295),-1;UBR1,intron_variant,,ENST00000563239,,c.*202+2907A>T,MODIFIER,,,,-1","Allele":"A","Gene":"ENSG00000159459","Feature":"ENST00000290650","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"720/7698","CDS_position":"704/5250","Protein_position":"235/1749","Amino_acids":"H/L","Codons":"cAc/cTc","Existing_variation":"COSV99316593","TRANSCRIPT_STRAND":-1,"SYMBOL":"UBR1","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:16808","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS10091.1","ENSP":"ENSP00000290650","SWISSPROT":"Q8IWV7.152","UNIPARC":"UPI0000074467","UNIPROT_ISOFORM":"Q8IWV7-1","RefSeq":"NM_174916.3","MANE":"NM_174916.3","APPRIS":"P1","SIFT":"tolerated(0.32)","PolyPhen":"probably_damaging(0.987)","EXON":"6/47","DOMAINS":"Gene3D:3.30.1390.10;Pfam:PF02617;PANTHER:PTHR21497;PANTHER:PTHR21497:SF27;Superfamily:SSF54736","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","GENE_PHENO":"1","CONTEXT":"AATGGTGTTCA","tumor_bam_uuid":"07493ef0-d593-438d-bc35-582c2cf22ee9","normal_bam_uuid":"7c0ae232-ad46-4402-a73b-fa9bcf9b3884","case_id":"7e7f089c-25f7-4e14-aed5-d741047b9e42","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"393","Hugo_Symbol":"TRAV24","Entrez_Gene_Id":28659,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr14","Start_Position":22105618,"End_Position":22105618,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"C","dbSNP_RS":"rs1441632176","Tumor_Sample_Barcode":"TCGA-17-Z042-01A-01W-0746-08","Matched_Norm_Sample_Barcode":"TCGA-17-Z042-11A-01W-0746-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"3c303c9d-6cda-490d-a64d-21bc40b064f3","Matched_Norm_Sample_UUID":"5448ca84-dc5f-435d-866b-1d6366803929","HGVSc":"c.115G>C","HGVSp":"p.Asp39His","HGVSp_Short":"p.D39H","Transcript_ID":"ENST00000390453","Exon_Number":"2/2","t_depth":31,"t_ref_count":24,"t_alt_count":7,"n_depth":30,"all_effects":"TRAV24,missense_variant,p.D39H,ENST00000390453,,c.115G>C,MODERATE,YES,deleterious(0.01),possibly_damaging(0.905),1","Allele":"C","Gene":"ENSG00000211805","Feature":"ENST00000390453","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"115/343","CDS_position":"115/343","Protein_position":"39/114","Amino_acids":"D/H","Codons":"Gac/Cac","Existing_variation":"rs1441632176","TRANSCRIPT_STRAND":1,"SYMBOL":"TRAV24","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:12121","BIOTYPE":"TR_V_gene","CANONICAL":"YES","ENSP":"ENSP00000451837","SWISSPROT":"A0A0B4J272.30","UNIPARC":"UPI000011D127","APPRIS":"P1","FLAGS":"cds_end_NF","SIFT":"deleterious(0.01)","PolyPhen":"possibly_damaging(0.905)","EXON":"2/2","DOMAINS":"PDB-ENSP_mappings:6cph.D;PDB-ENSP_mappings:6cql.D;PDB-ENSP_mappings:6cqn.D;PDB-ENSP_mappings:6cqq.D;PDB-ENSP_mappings:6cqq.I;PDB-ENSP_mappings:6cqr.D;PDB-ENSP_mappings:6cqr.I","gnomAD_AF":"0","gnomAD_AFR_AF":"0","gnomAD_AMR_AF":"0","gnomAD_ASJ_AF":"0","gnomAD_EAS_AF":"0","gnomAD_FIN_AF":"0","gnomAD_NFE_AF":"0","gnomAD_OTH_AF":"0","gnomAD_SAS_AF":"0","MAX_AF":"0","MAX_AF_POPS":"gnomAD_AFR;gnomAD_AMR;gnomAD_ASJ;gnomAD_EAS;gnomAD_FIN;gnomAD_NFE;gnomAD_OTH;gnomAD_SAS","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","CONTEXT":"AGGGAGACAGC","tumor_bam_uuid":"f2a6b651-c69e-43c5-b13d-970b0ca10c8b","normal_bam_uuid":"b5fbc9d1-d9a4-45de-b7e1-87e7b99c7071","case_id":"56027785-fb10-492c-b021-ea9e3a1979db","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"235","Hugo_Symbol":"MLIP","Entrez_Gene_Id":90523,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr6","Start_Position":54202143,"End_Position":54202143,"Strand":"+","Variant_Classification":"Silent","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-78-8662-01A-11D-2393-08","Matched_Norm_Sample_Barcode":"TCGA-78-8662-10A-01D-2393-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"30a18e06-a219-42fb-934d-05dab59924d2","Matched_Norm_Sample_UUID":"9ba38ffb-4d0d-46f6-ac56-8eeb499610cc","HGVSc":"c.1023C>A","HGVSp":"p.Ser341=","HGVSp_Short":"p.S341=","Transcript_ID":"ENST00000274897","Exon_Number":"10/13","t_depth":132,"t_ref_count":116,"t_alt_count":16,"n_depth":80,"all_effects":"MLIP,synonymous_variant,p.S865=,ENST00000514921,NM_001281746.2,c.2595C>A,LOW,,,,1;MLIP,synonymous_variant,p.S876=,ENST00000502396,NM_001281747.2,c.2628C>A,LOW,YES,,,1;MLIP,synonymous_variant,p.S341=,ENST00000274897,NM_138569.2,c.1023C>A,LOW,,,,1;MLIP,synonymous_variant,p.S237=,ENST00000370877,,c.711C>A,LOW,,,,1;MLIP,synonymous_variant,p.S185=,ENST00000370876,,c.555C>A,LOW,,,,1;MLIP,synonymous_variant,p.S195=,ENST00000509997,,c.585C>A,LOW,,,,1;MLIP,synonymous_variant,p.S270=,ENST00000514433,,c.810C>A,LOW,,,,1;MLIP,synonymous_variant,p.S175=,ENST00000447836,,c.525C>A,LOW,,,,1;MLIP,non_coding_transcript_exon_variant,,ENST00000511744,,n.2661C>A,MODIFIER,,,,1","Allele":"A","Gene":"ENSG00000146147","Feature":"ENST00000274897","Feature_type":"Transcript","One_Consequence":"synonymous_variant","Consequence":"synonymous_variant","cDNA_position":"1136/1815","CDS_position":"1023/1377","Protein_position":"341/458","Amino_acids":"S","Codons":"tcC/tcA","Existing_variation":"COSV99230492","TRANSCRIPT_STRAND":1,"SYMBOL":"MLIP","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:21355","BIOTYPE":"protein_coding","CCDS":"CCDS4954.1","ENSP":"ENSP00000274897","SWISSPROT":"Q5VWP3.116","UNIPARC":"UPI000013DA33","UNIPROT_ISOFORM":"Q5VWP3-1","RefSeq":"NM_138569.2","APPRIS":"P1","EXON":"10/13","DOMAINS":"Pfam:PF15274;PANTHER:PTHR31514","SOMATIC":"1","IMPACT":"LOW","VARIANT_CLASS":"SNV","TSL":2,"PHENO":"1","CONTEXT":"AAATCCAGAAT","tumor_bam_uuid":"a219922f-d967-4bb8-8215-2d8c7b5f9967","normal_bam_uuid":"def870a2-bbc3-4e7b-a8f8-1fb10a2c7ffc","case_id":"16e64a1e-08b0-4c27-8c69-fa64551f8ca4","hotspot":"N","RNA_Support":"Unknown","callers":"muse;varscan2"}
{"X1":"432","Hugo_Symbol":"ZFYVE26","Entrez_Gene_Id":23503,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr14","Start_Position":67786005,"End_Position":67786005,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"G","Tumor_Sample_Barcode":"TCGA-55-7994-01A-11D-2184-08","Matched_Norm_Sample_Barcode":"TCGA-55-7994-10A-01D-2184-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"4c8b463c-8851-4b3b-bc57-327ea12d82d8","Matched_Norm_Sample_UUID":"cad56139-9883-4b4e-9b47-0ddf79030293","HGVSc":"c.3157G>C","HGVSp":"p.Gly1053Arg","HGVSp_Short":"p.G1053R","Transcript_ID":"ENST00000347230","Exon_Number":"18/42","t_depth":72,"t_ref_count":43,"t_alt_count":29,"n_depth":53,"all_effects":"ZFYVE26,missense_variant,p.G1053R,ENST00000678386,,c.3157G>C,MODERATE,YES,tolerated(0.38),possibly_damaging(0.465),-1;ZFYVE26,missense_variant,p.G1053R,ENST00000676512,,c.3157G>C,MODERATE,,tolerated(0.38),possibly_damaging(0.465),-1;ZFYVE26,missense_variant,p.G1053R,ENST00000347230,NM_015346.4,c.3157G>C,MODERATE,,tolerated(0.38),possibly_damaging(0.851),-1;ZFYVE26,missense_variant,p.G1053R,ENST00000676620,,c.3157G>C,MODERATE,,tolerated(0.38),possibly_damaging(0.465),-1;ZFYVE26,missense_variant,p.G1053R,ENST00000555452,,c.3157G>C,MODERATE,,tolerated(0.35),benign(0.272),-1;ZFYVE26,downstream_gene_variant,,ENST00000677026,,,MODIFIER,,,,-1;ZFYVE26,3_prime_UTR_variant,,ENST00000554557,,c.*1454G>C,MODIFIER,,,,-1;ZFYVE26,non_coding_transcript_exon_variant,,ENST00000554523,,n.3294G>C,MODIFIER,,,,-1;ZFYVE26,downstream_gene_variant,,ENST00000678382,,,MODIFIER,,,,-1","Allele":"G","Gene":"ENSG00000072121","Feature":"ENST00000347230","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"3297/9674","CDS_position":"3157/7620","Protein_position":"1053/2539","Amino_acids":"G/R","Codons":"Gga/Cga","Existing_variation":"COSV100720685","TRANSCRIPT_STRAND":-1,"SYMBOL":"ZFYVE26","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:20761","BIOTYPE":"protein_coding","CCDS":"CCDS9788.1","ENSP":"ENSP00000251119","SWISSPROT":"Q68DK2.135","UNIPARC":"UPI00001FD735","RefSeq":"NM_015346.4","MANE":"NM_015346.4","APPRIS":"P2","SIFT":"tolerated(0.38)","PolyPhen":"possibly_damaging(0.851)","EXON":"18/42","DOMAINS":"PANTHER:PTHR46591","SOMATIC":"1","IMPACT":"MODERATE","VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","GENE_PHENO":"1","CONTEXT":"TCCTCCCTTTT","tumor_bam_uuid":"52d3d796-0560-41f0-88d3-a7db827b155c","normal_bam_uuid":"8a26dec8-750d-4964-8874-d02647a449f0","case_id":"67dbe286-edb3-4d07-8f74-9e5254f01945","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"309","Hugo_Symbol":"MUC16","Entrez_Gene_Id":94025,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr19","Start_Position":8979863,"End_Position":8979863,"Strand":"+","Variant_Classification":"Nonsense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-50-5930-01A-11D-1753-08","Matched_Norm_Sample_Barcode":"TCGA-50-5930-11A-01D-1753-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"bd3e88b3-b37c-4641-85fa-d8125ba324ca","Matched_Norm_Sample_UUID":"99a809f8-c87d-4d0a-a5d5-29918228b48f","HGVSc":"c.1276G>T","HGVSp":"p.Gly426Ter","HGVSp_Short":"p.G426*","Transcript_ID":"ENST00000397910","Exon_Number":"1/84","t_depth":74,"t_ref_count":56,"t_alt_count":18,"n_depth":98,"all_effects":"MUC16,stop_gained,p.G426*,ENST00000397910,NM_024690.2,c.1276G>T,HIGH,YES,,,-1","Allele":"A","Gene":"ENSG00000181143","Feature":"ENST00000397910","Feature_type":"Transcript","One_Consequence":"stop_gained","Consequence":"stop_gained","cDNA_position":"1480/43816","CDS_position":"1276/43524","Protein_position":"426/14507","Amino_acids":"G/*","Codons":"Gga/Tga","Existing_variation":"COSV67452487;COSV67467117","TRANSCRIPT_STRAND":-1,"SYMBOL":"MUC16","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:15582","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS54212.1","ENSP":"ENSP00000381008","SWISSPROT":"Q8WXI7.134","UNIPARC":"UPI000065CA24","RefSeq":"NM_024690.2","APPRIS":"P1","EXON":"1/84","DOMAINS":"MobiDB_lite:mobidb-lite","SOMATIC":"1;1","IMPACT":"HIGH","PICK":1,"VARIANT_CLASS":"SNV","TSL":5,"PHENO":"1;1","GENE_PHENO":"1","CONTEXT":"CTTTCCACTCG","tumor_bam_uuid":"c490b081-c6d9-42bc-aefa-458c8e4cb5cc","normal_bam_uuid":"ec893dbc-40ac-476b-96c3-f705937275e5","case_id":"368e23f0-e573-4547-bf5a-14080baf737b","COSMIC":"COSM1398213;COSM1398214","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"355","Hugo_Symbol":"PLXNB2","Entrez_Gene_Id":23654,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr22","Start_Position":50275905,"End_Position":50275905,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"T","Tumor_Seq_Allele1":"T","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-MP-A4T7-01A-11D-A24P-08","Matched_Norm_Sample_Barcode":"TCGA-MP-A4T7-10A-01D-A24P-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"ca00df38-78b5-4d6a-b496-caea39b8295d","Matched_Norm_Sample_UUID":"5bc11e96-fbe0-4f14-8720-1bcc96950133","HGVSc":"c.5396A>T","HGVSp":"p.Gln1799Leu","HGVSp_Short":"p.Q1799L","Transcript_ID":"ENST00000359337","Exon_Number":"36/37","t_depth":44,"t_ref_count":32,"t_alt_count":12,"n_depth":40,"all_effects":"PLXNB2,missense_variant,p.Q1799L,ENST00000359337,NM_001376869.1&NM_001376885.1&NM_001376866.1&NM_012401.4&NM_001376868.1&NM_001376886.1&NM_001376867.1&NM_001376879.1&NM_001376882.1&NM_001376873.1&NM_001376877.1&NM_001376883.1&NM_001376870.1&NM_001376864.1&NM_001376874.1&NM_001376872.1&NM_001376881.1,c.5396A>T,MODERATE,YES,deleterious(0),possibly_damaging(0.475),-1;PLXNB2,missense_variant,p.Q1799L,ENST00000449103,NM_001376865.1&NM_001376884.1&NM_001376878.1&NM_001376871.1&NM_001376876.1&NM_001376875.1&NM_001376880.1,c.5396A>T,MODERATE,,deleterious(0),possibly_damaging(0.475),-1;PLXNB2,3_prime_UTR_variant,,ENST00000610984,,c.*325A>T,MODIFIER,,,,-1;PLXNB2,downstream_gene_variant,,ENST00000411680,,,MODIFIER,,,,-1;PLXNB2,downstream_gene_variant,,ENST00000614805,,,MODIFIER,,,,-1;PLXNB2,non_coding_transcript_exon_variant,,ENST00000479701,,n.2658A>T,MODIFIER,,,,-1;PLXNB2,non_coding_transcript_exon_variant,,ENST00000463165,,n.2198A>T,MODIFIER,,,,-1;PLXNB2,non_coding_transcript_exon_variant,,ENST00000479818,,n.1070A>T,MODIFIER,,,,-1","Allele":"A","Gene":"ENSG00000196576","Feature":"ENST00000359337","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"5563/6409","CDS_position":"5396/5517","Protein_position":"1799/1838","Amino_acids":"Q/L","Codons":"cAg/cTg","Existing_variation":"COSV100834350","TRANSCRIPT_STRAND":-1,"SYMBOL":"PLXNB2","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:9104","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS43035.1","ENSP":"ENSP00000352288","SWISSPROT":"O15031.171","UNIPARC":"UPI000003812D","RefSeq":"NM_001376869.1;NM_001376885.1;NM_001376866.1;NM_012401.4;NM_001376868.1;NM_001376886.1;NM_001376867.1;NM_001376879.1;NM_001376882.1;NM_001376873.1;NM_001376877.1;NM_001376883.1;NM_001376870.1;NM_001376864.1;NM_001376874.1;NM_001376872.1;NM_001376881.1","MANE":"NM_012401.4","APPRIS":"P1","SIFT":"deleterious(0)","PolyPhen":"possibly_damaging(0.475)","EXON":"36/37","DOMAINS":"CDD:cd12792;PANTHER:PTHR22625;PANTHER:PTHR22625:SF9;Pfam:PF08337;Gene3D:1.10.506.10;Superfamily:SSF48350","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":5,"PHENO":"1","CONTEXT":"ACTTCTGCGTG","tumor_bam_uuid":"de90cf5c-ba39-4126-9676-a35f23691898","normal_bam_uuid":"1895dd7a-9d7c-4a7e-8735-cc98d2de59b9","case_id":"47062ad2-ba82-45c8-a871-bdea84f0c405","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"384","Hugo_Symbol":"ZNF91","Entrez_Gene_Id":7644,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr19","Start_Position":23360678,"End_Position":23360678,"Strand":"+","Variant_Classification":"Silent","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"T","Tumor_Sample_Barcode":"TCGA-86-7714-01A-12D-2167-08","Matched_Norm_Sample_Barcode":"TCGA-86-7714-10A-01D-2167-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"75da25e4-927d-4bf6-ba40-54ac5c109b3c","Matched_Norm_Sample_UUID":"53d2a678-c2c3-46ac-9b69-9e29bb392037","HGVSc":"c.2301G>A","HGVSp":"p.Glu767=","HGVSp_Short":"p.E767=","Transcript_ID":"ENST00000300619","Exon_Number":"4/4","t_depth":38,"t_ref_count":21,"t_alt_count":17,"n_depth":49,"all_effects":"ZNF91,synonymous_variant,p.E767=,ENST00000300619,NM_003430.4,c.2301G>A,LOW,YES,,,-1;ZNF91,synonymous_variant,p.E735=,ENST00000397082,NM_001300951.2,c.2205G>A,LOW,,,,-1;ZNF91,intron_variant,,ENST00000599743,,c.253+13064G>A,MODIFIER,,,,-1;ZNF91,downstream_gene_variant,,ENST00000595533,,,MODIFIER,,,,-1;ZNF91,intron_variant,,ENST00000596989,,n.370+13064G>A,MODIFIER,,,,-1;ZNF91,upstream_gene_variant,,ENST00000593341,,,MODIFIER,,,,-1;ZNF91,upstream_gene_variant,,ENST00000596528,,,MODIFIER,,,,-1;ZNF91,upstream_gene_variant,,ENST00000599281,,,MODIFIER,,,,-1","Allele":"T","Gene":"ENSG00000167232","Feature":"ENST00000300619","Feature_type":"Transcript","One_Consequence":"synonymous_variant","Consequence":"synonymous_variant","cDNA_position":"2418/5400","CDS_position":"2301/3576","Protein_position":"767/1191","Amino_acids":"E","Codons":"gaG/gaA","Existing_variation":"COSV56087372;COSV56095380","TRANSCRIPT_STRAND":-1,"SYMBOL":"ZNF91","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:13166","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS42541.1","ENSP":"ENSP00000300619","SWISSPROT":"Q05481.186","UNIPARC":"UPI00002038F9","UNIPROT_ISOFORM":"Q05481-1","RefSeq":"NM_003430.4","MANE":"NM_003430.4","APPRIS":"P4","EXON":"4/4","DOMAINS":"Gene3D:3.30.160.60;PROSITE_profiles:PS50157;PANTHER:PTHR24377;PANTHER:PTHR24377:SF845;Superfamily:SSF57667","SOMATIC":"1;1","IMPACT":"LOW","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1;1","CONTEXT":"GGTTTCTCTCT","tumor_bam_uuid":"d3855beb-5e48-4248-8c3d-b1df6d556a5a","normal_bam_uuid":"c275c254-3bdf-482e-ac9b-93e57844568b","case_id":"532c1852-76dd-489f-9380-36766d6e3c34","COSMIC":"COSM6150740;COSM6150741","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"312","Hugo_Symbol":"COL4A1","Entrez_Gene_Id":1282,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr13","Start_Position":110174714,"End_Position":110174714,"Strand":"+","Variant_Classification":"Silent","Variant_Type":"SNP","Reference_Allele":"A","Tumor_Seq_Allele1":"A","Tumor_Seq_Allele2":"T","Tumor_Sample_Barcode":"TCGA-67-3774-01A-01W-0928-08","Matched_Norm_Sample_Barcode":"TCGA-67-3774-10A-01D-1489-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"4063850f-e92d-4ad8-bf44-65a7b2f56894","Matched_Norm_Sample_UUID":"bae1345a-b4bf-41a9-aa39-7c1b0844d4a3","HGVSc":"c.3234T>A","HGVSp":"p.Pro1078=","HGVSp_Short":"p.P1078=","Transcript_ID":"ENST00000375820","Exon_Number":"38/52","t_depth":490,"t_ref_count":381,"t_alt_count":108,"n_depth":512,"all_effects":"COL4A1,synonymous_variant,p.P1078=,ENST00000375820,NM_001845.6,c.3234T>A,LOW,YES,,,-1;COL4A1,downstream_gene_variant,,ENST00000649738,,,MODIFIER,,,,-1","Allele":"T","Gene":"ENSG00000187498","Feature":"ENST00000375820","Feature_type":"Transcript","One_Consequence":"synonymous_variant","Consequence":"synonymous_variant","cDNA_position":"3364/6540","CDS_position":"3234/5010","Protein_position":"1078/1669","Amino_acids":"P","Codons":"ccT/ccA","Existing_variation":"COSV65426756","TRANSCRIPT_STRAND":-1,"SYMBOL":"COL4A1","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:2202","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS9511.1","ENSP":"ENSP00000364979","SWISSPROT":"P02462.213","UNIPARC":"UPI000004981D","UNIPROT_ISOFORM":"P02462-1","RefSeq":"NM_001845.6","MANE":"NM_001845.6","APPRIS":"P1","EXON":"38/52","DOMAINS":"Pfam:PF01391;PANTHER:PTHR24023;PANTHER:PTHR24023:SF854","SOMATIC":"1","IMPACT":"LOW","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","GENE_PHENO":"1","CONTEXT":"TCTCCAGGGCT","tumor_bam_uuid":"05c7f6d2-e8bd-4890-a465-69a1d341ff5f","normal_bam_uuid":"91f16b8e-4bec-43c3-9b42-b3ebaf4aa146","case_id":"36ad7fc7-0cc1-4f01-aef1-f89b3cb4feac","COSMIC":"COSM6074005;COSM6074006","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"88","Hugo_Symbol":"CDH23","Entrez_Gene_Id":64072,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr10","Start_Position":71784313,"End_Position":71784313,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-05-5425-01A-02D-1625-08","Matched_Norm_Sample_Barcode":"TCGA-05-5425-10A-01D-1625-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"70a3e96b-dd26-419c-9a68-97dea0465d6e","Matched_Norm_Sample_UUID":"6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b","HGVSc":"c.5395G>A","HGVSp":"p.Gly1799Arg","HGVSp_Short":"p.G1799R","Transcript_ID":"ENST00000224721","Exon_Number":"42/70","t_depth":40,"t_ref_count":34,"t_alt_count":6,"n_depth":32,"all_effects":"CDH23,missense_variant,p.G1799R,ENST00000224721,NM_022124.6,c.5395G>A,MODERATE,YES,deleterious(0),probably_damaging(1),1;CDH23,missense_variant,p.G1799R,ENST00000622827,,c.5395G>A,MODERATE,,deleterious(0),probably_damaging(1),1","Allele":"A","Gene":"ENSG00000107736","Feature":"ENST00000224721","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"5799/11138","CDS_position":"5395/10065","Protein_position":"1799/3354","Amino_acids":"G/R","Codons":"Ggg/Agg","Existing_variation":"COSV56462315","TRANSCRIPT_STRAND":1,"SYMBOL":"CDH23","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:13733","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS86100.1","ENSP":"ENSP00000224721","SWISSPROT":"Q9H251.193","UNIPARC":"UPI000175EE48","UNIPROT_ISOFORM":"Q9H251-1","RefSeq":"NM_022124.6","MANE":"NM_022124.6","APPRIS":"P1","SIFT":"deleterious(0)","PolyPhen":"probably_damaging(1)","EXON":"42/70","DOMAINS":"Gene3D:2.60.40.60;Pfam:PF00028;PROSITE_profiles:PS50268;PANTHER:PTHR24025;PANTHER:PTHR24025:SF18;SMART:SM00112;Superfamily:SSF49313;CDD:cd11304","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":5,"PHENO":"1","GENE_PHENO":"1","CONTEXT":"TGGAGGGGGTG","tumor_bam_uuid":"b0d8d301-7af1-4820-90bb-5fd481f5859f","normal_bam_uuid":"22fa4d1e-609f-42bb-97ae-d667a2031105","case_id":"9b4eeecb-6aff-435b-a244-ec362af92b7f","COSMIC":"COSM6129964","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2"}
{"X1":"479","Hugo_Symbol":"NLRP13","Entrez_Gene_Id":126204,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr19","Start_Position":55912852,"End_Position":55912852,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"G","Tumor_Sample_Barcode":"TCGA-50-5933-01A-11D-1753-08","Matched_Norm_Sample_Barcode":"TCGA-50-5933-11A-01D-1753-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1","Matched_Norm_Sample_UUID":"90712f33-34db-4346-ab22-59c1a11ebe99","HGVSc":"c.965G>C","HGVSp":"p.Arg322Pro","HGVSp_Short":"p.R322P","Transcript_ID":"ENST00000342929","Exon_Number":"5/11","t_depth":69,"t_ref_count":56,"t_alt_count":13,"n_depth":82,"all_effects":"NLRP13,missense_variant,p.R322P,ENST00000588751,NM_001321057.1,c.965G>C,MODERATE,,tolerated(0.11),benign(0.077),-1;NLRP13,missense_variant,p.R322P,ENST00000342929,NM_176810.2,c.965G>C,MODERATE,YES,tolerated(0.15),benign(0.007),-1","Allele":"G","Gene":"ENSG00000173572","Feature":"ENST00000342929","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"965/3132","CDS_position":"965/3132","Protein_position":"322/1043","Amino_acids":"R/P","Codons":"cGc/cCc","Existing_variation":"COSV61623915","TRANSCRIPT_STRAND":-1,"SYMBOL":"NLRP13","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:22937","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS33119.1","ENSP":"ENSP00000343891","SWISSPROT":"Q86W25.143","UNIPARC":"UPI00001AEEC8","RefSeq":"NM_176810.2","APPRIS":"P4","SIFT":"tolerated(0.15)","PolyPhen":"benign(0.007)","EXON":"5/11","DOMAINS":"Low_complexity_(Seg):seg;PROSITE_profiles:PS50837;PANTHER:PTHR45690;PANTHER:PTHR45690:SF16;Pfam:PF05729;Gene3D:3.40.50.300;Superfamily:SSF52540","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","CONTEXT":"CAGAGCGTGAC","tumor_bam_uuid":"2822f152-0aaa-4237-a406-0f0059f43194","normal_bam_uuid":"0be085bd-a958-466e-afa1-f1d527e90517","case_id":"7a0ea814-f0de-4bc4-a81a-daa000559369","COSMIC":"COSM6086478","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"177","Hugo_Symbol":"AC136428.1","Entrez_Gene_Id":0,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr16","Start_Position":33844955,"End_Position":33844955,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"T","Tumor_Sample_Barcode":"TCGA-55-7283-01A-11D-2036-08","Matched_Norm_Sample_Barcode":"TCGA-55-7283-10A-01D-2036-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"a16e4263-6135-4ce4-929a-5e98395fa60a","Matched_Norm_Sample_UUID":"fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83","HGVSc":"c.178C>A","HGVSp":"p.Pro60Thr","HGVSp_Short":"p.P60T","Transcript_ID":"ENST00000569103","Exon_Number":"2/2","t_depth":308,"t_ref_count":264,"t_alt_count":44,"n_depth":314,"all_effects":"AC136428.1,missense_variant,p.P60T,ENST00000569103,,c.178C>A,MODERATE,YES,deleterious_low_confidence(0),probably_damaging(0.973),-1;AC140658.6,downstream_gene_variant,,ENST00000438532,,,MODIFIER,YES,,,-1","Allele":"T","Gene":"ENSG00000259680","Feature":"ENST00000569103","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"178/349","CDS_position":"178/349","Protein_position":"60/116","Amino_acids":"P/T","Codons":"Cca/Aca","Existing_variation":"COSV101434972","TRANSCRIPT_STRAND":-1,"SYMBOL":"AC136428.1","SYMBOL_SOURCE":"Clone_based_ensembl_gene","BIOTYPE":"protein_coding","CANONICAL":"YES","ENSP":"ENSP00000474135","TREMBL":"S4R3C0.38","UNIPARC":"UPI0003335126","APPRIS":"P1","FLAGS":"cds_end_NF","SIFT":"deleterious_low_confidence(0)","PolyPhen":"probably_damaging(0.973)","EXON":"2/2","DOMAINS":"PROSITE_profiles:PS50835;PANTHER:PTHR23266:SF302;PANTHER:PTHR23266;Pfam:PF07686;Gene3D:2.60.40.10;SMART:SM00406;Superfamily:SSF48726","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":5,"PHENO":"1","CONTEXT":"CCCTGGAGCCT","tumor_bam_uuid":"3f0890a0-ad5b-4251-9b1d-ae2824a22456","normal_bam_uuid":"0b2f4493-380c-40c8-bf78-485bcee8b80b","case_id":"ccfdad76-cc45-447f-bed8-ede8f6a8844d","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"371","Hugo_Symbol":"EIF3M","Entrez_Gene_Id":10480,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr11","Start_Position":32588733,"End_Position":32588733,"Strand":"+","Variant_Classification":"Splice_Site","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-49-6761-01A-31D-1945-08","Matched_Norm_Sample_Barcode":"TCGA-49-6761-11A-01D-1945-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"5721b714-3c3e-49e8-b301-25727fd130cd","Matched_Norm_Sample_UUID":"24721de3-4572-4864-9ba5-1f54a9023005","HGVSc":"c.314+1G>A","HGVSp_Short":"p.X105_splice","Transcript_ID":"ENST00000531120","t_depth":100,"t_ref_count":76,"t_alt_count":24,"n_depth":145,"all_effects":"EIF3M,splice_donor_variant,p.X42_splice,ENST00000323213,,c.125+1G>A,HIGH,,,,1;EIF3M,splice_donor_variant,p.X105_splice,ENST00000531120,NM_006360.6,c.314+1G>A,HIGH,YES,,,1;EIF3M,splice_donor_variant,p.X42_splice,ENST00000533439,,c.125+1G>A,HIGH,,,,1;EIF3M,intron_variant,,ENST00000524896,NM_001307929.2,c.43-814G>A,MODIFIER,,,,1;EIF3M,upstream_gene_variant,,ENST00000526267,,,MODIFIER,,,,1;EIF3M,downstream_gene_variant,,ENST00000532054,,,MODIFIER,,,,1;EIF3M,splice_donor_variant,,ENST00000530026,,n.318+1G>A,HIGH,,,,1;EIF3M,splice_donor_variant,p.X105_splice,ENST00000531921,,c.314+1G>A,HIGH,,,,1;EIF3M,splice_donor_variant,,ENST00000532444,,c.*187+1G>A,HIGH,,,,1;EIF3M,non_coding_transcript_exon_variant,,ENST00000531186,,n.371G>A,MODIFIER,,,,1;EIF3M,intron_variant,,ENST00000524711,,c.176-814G>A,MODIFIER,,,,1;EIF3M,intron_variant,,ENST00000525782,,c.43-814G>A,MODIFIER,,,,1;HNRNPA3P9,downstream_gene_variant,,ENST00000604913,,,MODIFIER,YES,,,-1","Allele":"A","Gene":"ENSG00000149100","Feature":"ENST00000531120","Feature_type":"Transcript","One_Consequence":"splice_donor_variant","Consequence":"splice_donor_variant","Existing_variation":"COSV60072305","TRANSCRIPT_STRAND":1,"SYMBOL":"EIF3M","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:24460","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS7880.1","ENSP":"ENSP00000436049","SWISSPROT":"Q7L2H7.147","UNIPARC":"UPI0000070F8A","UNIPROT_ISOFORM":"Q7L2H7-1","RefSeq":"NM_006360.6","MANE":"NM_006360.6","APPRIS":"P1","INTRON":"3/10","SOMATIC":"1","IMPACT":"HIGH","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","CONTEXT":"CAGTTGTAAGT","tumor_bam_uuid":"6d91e593-1909-4809-90c3-a9bdd829a848","normal_bam_uuid":"1385f134-f77b-44ef-b9b4-86e0706f480a","case_id":"4cd3d483-2283-4c6a-a57a-444216119d34","COSMIC":"COSM6132514","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"278","Hugo_Symbol":"BCHE","Entrez_Gene_Id":590,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr3","Start_Position":165830025,"End_Position":165830025,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"T","dbSNP_RS":"novel","Tumor_Sample_Barcode":"TCGA-17-Z053-01A-01W-0747-08","Matched_Norm_Sample_Barcode":"TCGA-17-Z053-11A-01W-0747-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"2d422986-6e91-4299-b6cf-4076f3706c83","Matched_Norm_Sample_UUID":"8902411b-6bff-49e8-8e1e-0370a773997a","HGVSc":"c.1009C>A","HGVSp":"p.Leu337Ile","HGVSp_Short":"p.L337I","Transcript_ID":"ENST00000264381","Exon_Number":"2/4","t_depth":85,"t_ref_count":68,"t_alt_count":17,"n_depth":91,"all_effects":"BCHE,missense_variant,p.L337I,ENST00000264381,NM_000055.4,c.1009C>A,MODERATE,YES,tolerated(0.28),benign(0.07),-1;BCHE,intron_variant,,ENST00000479451,,c.107+7289C>A,MODIFIER,,,,-1;BCHE,intron_variant,,ENST00000488954,,c.107+7289C>A,MODIFIER,,,,-1;BCHE,missense_variant,p.L337I,ENST00000482958,,c.1009C>A,MODERATE,,tolerated(0.18),benign(0.062),-1;BCHE,missense_variant,p.L337I,ENST00000497011,,c.1009C>A,MODERATE,,tolerated(0.29),benign(0.07),-1;LINC01322,intron_variant,,ENST00000651449,,n.1008-15867G>T,MODIFIER,,,,1","Allele":"T","Gene":"ENSG00000114200","Feature":"ENST00000264381","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"1127/2405","CDS_position":"1009/1809","Protein_position":"337/602","Amino_acids":"L/I","Codons":"Ctt/Att","TRANSCRIPT_STRAND":-1,"SYMBOL":"BCHE","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:983","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS3198.1","ENSP":"ENSP00000264381","SWISSPROT":"P06276.214","UNIPARC":"UPI0000127866","RefSeq":"NM_000055.4","MANE":"NM_000055.4","APPRIS":"P1","SIFT":"tolerated(0.28)","PolyPhen":"benign(0.07)","EXON":"2/4","DOMAINS":"PDB-ENSP_mappings:1p0i.A;PDB-ENSP_mappings:1p0m.A;PDB-ENSP_mappings:1p0p.A;PDB-ENSP_mappings:1p0q.A;PDB-ENSP_mappings:1xlu.A;PDB-ENSP_mappings:1xlv.A;PDB-ENSP_mappings:1xlw.A;PDB-ENSP_mappings:2j4c.A;PDB-ENSP_mappings:2pm8.A;PDB-ENSP_mappings:2pm8.B;PDB-ENSP_mappings:2wid.A;PDB-ENSP_mappings:2wif.A;PDB-ENSP_mappings:2wig.A;PDB-ENSP_mappings:2wij.A;PDB-ENSP_mappings:2wik.A;PDB-ENSP_mappings:2wil.A;PDB-ENSP_mappings:2wil.B;PDB-ENSP_mappings:2wsl.A;PDB-ENSP_mappings:2xmb.A;PDB-ENSP_mappings:2xmc.A;PDB-ENSP_mappings:2xmd.A;PDB-ENSP_mappings:2xmg.A;PDB-ENSP_mappings:2xqf.A;PDB-ENSP_mappings:2xqg.A;PDB-ENSP_mappings:2xqi.A;PDB-ENSP_mappings:2xqj.A;PDB-ENSP_mappings:2xqk.A;PDB-ENSP_mappings:2y1k.A;PDB-ENSP_mappings:3djy.A;PDB-ENSP_mappings:3dkk.A;PDB-ENSP_mappings:3o9m.A;PDB-ENSP_mappings:3o9m.B;PDB-ENSP_mappings:4aqd.A;PDB-ENSP_mappings:4aqd.B;PDB-ENSP_mappings:4axb.A;PDB-ENSP_mappings:4b0o.A;PDB-ENSP_mappings:4b0p.A;PDB-ENSP_mappings:4bbz.A;PDB-ENSP_mappings:4bds.A;PDB-ENSP_mappings:4tpk.A;PDB-ENSP_mappings:4tpk.B;PDB-ENSP_mappings:4xii.A;PDB-ENSP_mappings:4xii.B;PDB-ENSP_mappings:5dyt.A;PDB-ENSP_mappings:5dyt.B;PDB-ENSP_mappings:5dyw.A;PDB-ENSP_mappings:5dyw.B;PDB-ENSP_mappings:5dyy.A;PDB-ENSP_mappings:5dyy.B;PDB-ENSP_mappings:5k5e.A;PDB-ENSP_mappings:5k5e.B;PDB-ENSP_mappings:5lkr.A;PDB-ENSP_mappings:5lkr.B;PDB-ENSP_mappings:5nn0.A;PDB-ENSP_mappings:6emi.A;PDB-ENSP_mappings:6emi.B;PDB-ENSP_mappings:6ep4.A;PDB-ENSP_mappings:6eqp.A;PDB-ENSP_mappings:6eqq.A;PDB-ENSP_mappings:6esj.A;PDB-ENSP_mappings:6esj.B;PDB-ENSP_mappings:6esy.A;PDB-ENSP_mappings:6esy.B;PDB-ENSP_mappings:6eul.A;PDB-ENSP_mappings:6eyf.A;PDB-ENSP_mappings:6ez2.A;PDB-ENSP_mappings:6ez2.B;PDB-ENSP_mappings:6f7q.A;PDB-ENSP_mappings:6f7q.B;PDB-ENSP_mappings:6i0b.A;PDB-ENSP_mappings:6i0c.A;PDB-ENSP_mappings:6i2t.A;PDB-ENSP_mappings:6i2t.B;PDB-ENSP_mappings:6i2t.C;PDB-ENSP_mappings:6i2t.D;PDB-ENSP_mappings:6qaa.A;PDB-ENSP_mappings:6qab.A;PDB-ENSP_mappings:6qac.A;PDB-ENSP_mappings:6qad.A;PDB-ENSP_mappings:6qae.A;PDB-ENSP_mappings:6r6v.A;PDB-ENSP_mappings:6r6w.A;PDB-ENSP_mappings:6rua.A;PDB-ENSP_mappings:6rua.B;PDB-ENSP_mappings:6sam.A;CDD:cd00312;PANTHER:PTHR43918;PANTHER:PTHR43918:SF5;Gene3D:3.40.50.1820;Pfam:PF00135;Superfamily:SSF53474","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"GENE_PHENO":"1","CONTEXT":"TCCAAGTTCAA","tumor_bam_uuid":"1e3dd4fd-83f6-4821-8b12-2677b8d94164","normal_bam_uuid":"83111d36-bc2d-41cb-b631-3013a931df9a","case_id":"2dca3588-51e1-48f7-8c9b-7b7e53c3fb33","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"167","Hugo_Symbol":"AEBP1","Entrez_Gene_Id":165,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr7","Start_Position":44112675,"End_Position":44112675,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"T","Tumor_Sample_Barcode":"TCGA-97-8172-01A-11D-2284-08","Matched_Norm_Sample_Barcode":"TCGA-97-8172-10A-01D-2284-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"b7eeb747-75b8-4477-bfd0-63bf3084d20d","Matched_Norm_Sample_UUID":"ca590e4a-4a12-48a8-b2bf-2c02061fd2d3","HGVSc":"c.2335C>T","HGVSp":"p.Pro779Ser","HGVSp_Short":"p.P779S","Transcript_ID":"ENST00000223357","Exon_Number":"18/21","t_depth":51,"t_ref_count":31,"t_alt_count":20,"n_depth":55,"all_effects":"AEBP1,missense_variant,p.P779S,ENST00000223357,NM_001129.5,c.2335C>T,MODERATE,YES,tolerated(0.09),benign(0.18),1;AEBP1,missense_variant,p.P354S,ENST00000450684,,c.1060C>T,MODERATE,,tolerated(0.06),benign(0.026),1;POLD2,downstream_gene_variant,,ENST00000223361,,,MODIFIER,,,,-1;POLD2,downstream_gene_variant,,ENST00000406581,NM_001256879.1,,MODIFIER,YES,,,-1;POLD2,downstream_gene_variant,,ENST00000418438,,,MODIFIER,,,,-1;POLD2,downstream_gene_variant,,ENST00000433715,,,MODIFIER,,,,-1;POLD2,downstream_gene_variant,,ENST00000436400,,,MODIFIER,,,,-1;POLD2,downstream_gene_variant,,ENST00000436844,,,MODIFIER,,,,-1;AEBP1,downstream_gene_variant,,ENST00000449162,,,MODIFIER,,,,1;POLD2,downstream_gene_variant,,ENST00000452185,,,MODIFIER,,,,-1;AEBP1,downstream_gene_variant,,ENST00000455443,,,MODIFIER,,,,1;POLD2,downstream_gene_variant,,ENST00000456038,,,MODIFIER,,,,-1;POLD2,downstream_gene_variant,,ENST00000610533,NM_006230.3&NM_001127218.2,,MODIFIER,,,,-1;MIR4649,downstream_gene_variant,,ENST00000582839,,,MODIFIER,YES,,,1;AEBP1,downstream_gene_variant,,ENST00000454218,,,MODIFIER,,,,1;AEBP1,3_prime_UTR_variant,,ENST00000413907,,c.*532C>T,MODIFIER,,,,1;AEBP1,downstream_gene_variant,,ENST00000431035,,,MODIFIER,,,,1;AEBP1,downstream_gene_variant,,ENST00000434445,,,MODIFIER,,,,1;AEBP1,downstream_gene_variant,,ENST00000453052,,,MODIFIER,,,,1;POLD2,downstream_gene_variant,,ENST00000461116,,,MODIFIER,,,,-1;POLD2,downstream_gene_variant,,ENST00000463464,,,MODIFIER,,,,-1;POLD2,downstream_gene_variant,,ENST00000464871,,,MODIFIER,,,,-1;POLD2,downstream_gene_variant,,ENST00000467469,,,MODIFIER,,,,-1;POLD2,downstream_gene_variant,,ENST00000470867,,,MODIFIER,,,,-1;POLD2,downstream_gene_variant,,ENST00000481104,,,MODIFIER,,,,-1;POLD2,downstream_gene_variant,,ENST00000489883,,,MODIFIER,,,,-1","Allele":"T","Gene":"ENSG00000106624","Feature":"ENST00000223357","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"2656/4097","CDS_position":"2335/3477","Protein_position":"779/1158","Amino_acids":"P/S","Codons":"Cct/Tct","Existing_variation":"COSV99789205","TRANSCRIPT_STRAND":1,"SYMBOL":"AEBP1","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:303","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS5476.1","ENSP":"ENSP00000223357","SWISSPROT":"Q8IUX7.155","UNIPARC":"UPI00000746E2","UNIPROT_ISOFORM":"Q8IUX7-1","RefSeq":"NM_001129.5","MANE":"NM_001129.5","APPRIS":"P1","SIFT":"tolerated(0.09)","PolyPhen":"benign(0.18)","EXON":"18/21","DOMAINS":"Gene3D:3.40.630.10;Pfam:PF00246;PANTHER:PTHR11532;PANTHER:PTHR11532:SF48;SMART:SM00631;Superfamily:SSF53187;CDD:cd03869","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","GENE_PHENO":"1","CONTEXT":"GCACGCCTACC","tumor_bam_uuid":"757969d0-57f1-489e-8ad0-a888cfa3c761","normal_bam_uuid":"a2863948-c8c7-436d-94db-6d83224a98b4","case_id":"cbf1f718-6bb7-4daf-b9d6-fb294281decb","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"73","Hugo_Symbol":"GASK1B","Entrez_Gene_Id":51313,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr4","Start_Position":158127448,"End_Position":158127448,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"T","Tumor_Seq_Allele1":"T","Tumor_Seq_Allele2":"C","Tumor_Sample_Barcode":"TCGA-99-7458-01A-11D-2036-08","Matched_Norm_Sample_Barcode":"TCGA-99-7458-10A-01D-2036-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"6135f346-7be7-4beb-bc56-50a94e439776","Matched_Norm_Sample_UUID":"d8bf0172-63f7-42c6-834d-dd3a53ee3f85","HGVSc":"c.1519A>G","HGVSp":"p.Ile507Val","HGVSp_Short":"p.I507V","Transcript_ID":"ENST00000296530","Exon_Number":"5/5","t_depth":217,"t_ref_count":178,"t_alt_count":39,"n_depth":136,"all_effects":"GASK1B,missense_variant,p.I507V,ENST00000296530,NM_016613.7,c.1519A>G,MODERATE,,deleterious(0.03),probably_damaging(0.92),-1;GASK1B,missense_variant,p.I507V,ENST00000585682,NM_001128424.2,c.1519A>G,MODERATE,,deleterious(0.03),probably_damaging(0.92),-1;GASK1B,missense_variant,p.I515V,ENST00000393807,NM_001031700.3,c.1543A>G,MODERATE,YES,deleterious(0.01),probably_damaging(0.947),-1;GASK1B,downstream_gene_variant,,ENST00000590648,,,MODIFIER,,,,-1;GASK1B,downstream_gene_variant,,ENST00000592586,,,MODIFIER,,,,-1;GASK1B,downstream_gene_variant,,ENST00000593260,,,MODIFIER,,,,-1;GASK1B,downstream_gene_variant,,ENST00000589306,,,MODIFIER,,,,-1","Allele":"C","Gene":"ENSG00000164125","Feature":"ENST00000296530","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"2141/4985","CDS_position":"1519/1560","Protein_position":"507/519","Amino_acids":"I/V","Codons":"Atc/Gtc","Existing_variation":"COSV56711432","TRANSCRIPT_STRAND":-1,"SYMBOL":"GASK1B","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:25312","BIOTYPE":"protein_coding","CCDS":"CCDS3798.1","ENSP":"ENSP00000296530","SWISSPROT":"Q6UWH4.120","UNIPARC":"UPI000004C63B","UNIPROT_ISOFORM":"Q6UWH4-1","RefSeq":"NM_016613.7","APPRIS":"P1","SIFT":"deleterious(0.03)","PolyPhen":"probably_damaging(0.92)","EXON":"5/5","DOMAINS":"Pfam:PF15051;PANTHER:PTHR15905;PANTHER:PTHR15905:SF1","SOMATIC":"1","IMPACT":"MODERATE","VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","CONTEXT":"ATTGATATAGG","tumor_bam_uuid":"6f1cab11-fa1c-4109-86b9-3428ca46c5c5","normal_bam_uuid":"0e759431-b471-48a0-a4b5-6386d979b634","case_id":"96d93e23-bb0d-46a8-9685-5ed0d6b83059","COSMIC":"COSM6166689;COSM6166690","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"148","Hugo_Symbol":"OR4C6","Entrez_Gene_Id":219432,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr11","Start_Position":55666027,"End_Position":55666027,"Strand":"+","Variant_Classification":"Silent","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-55-7907-01A-11D-2167-08","Matched_Norm_Sample_Barcode":"TCGA-55-7907-10A-01D-2167-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"0dbafe19-dd11-4a91-b946-ebd346121b64","Matched_Norm_Sample_UUID":"643450d7-0116-4289-a05d-ab41e2d3f5fb","HGVSc":"c.861G>A","HGVSp":"p.Leu287=","HGVSp_Short":"p.L287=","Transcript_ID":"ENST00000314259","Exon_Number":"2/2","t_depth":55,"t_ref_count":37,"t_alt_count":18,"n_depth":68,"all_effects":"OR4C6,synonymous_variant,p.L287=,ENST00000641251,NM_001004704.1,c.861G>A,LOW,YES,,,1;OR4C6,synonymous_variant,p.L287=,ENST00000314259,,c.861G>A,LOW,,,,1","Allele":"A","Gene":"ENSG00000181903","Feature":"ENST00000314259","Feature_type":"Transcript","One_Consequence":"synonymous_variant","Consequence":"synonymous_variant","cDNA_position":"951/1020","CDS_position":"861/930","Protein_position":"287/309","Amino_acids":"L","Codons":"ctG/ctA","Existing_variation":"COSV58605815","TRANSCRIPT_STRAND":1,"SYMBOL":"OR4C6","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:14743","BIOTYPE":"protein_coding","CCDS":"CCDS31506.1","ENSP":"ENSP00000324769","SWISSPROT":"Q8NH72.137","TREMBL":"A0A126GVN0.28","UNIPARC":"UPI0000041868","APPRIS":"P1","EXON":"2/2","DOMAINS":"CDD:cd15939;PANTHER:PTHR26451;PANTHER:PTHR26451:SF334;Pfam:PF13853;Gene3D:1.20.1070.10;Superfamily:SSF81321;Prints:PR00237;Prints:PR00245","SOMATIC":"1","IMPACT":"LOW","VARIANT_CLASS":"SNV","PHENO":"1","CONTEXT":"ACACTGAGGAA","tumor_bam_uuid":"402faa7d-eda4-4db8-8dd0-cb5270757b13","normal_bam_uuid":"33d8628d-03ec-479a-accc-1870c6141066","case_id":"bf755bc2-b7aa-4c3c-8b3c-58b089b5cab6","COSMIC":"COSM6133120","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"299","Hugo_Symbol":"HOOK3","Entrez_Gene_Id":84376,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr8","Start_Position":42968070,"End_Position":42968070,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"T","Tumor_Sample_Barcode":"TCGA-44-6774-01A-21D-1855-08","Matched_Norm_Sample_Barcode":"TCGA-44-6774-10A-01D-1855-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"f9cc1d71-bece-4693-b953-3e73d1b6c11c","Matched_Norm_Sample_UUID":"7d906a56-6db5-4619-948c-30a21f5c40c9","HGVSc":"c.978G>T","HGVSp":"p.Lys326Asn","HGVSp_Short":"p.K326N","Transcript_ID":"ENST00000307602","Exon_Number":"11/22","t_depth":90,"t_ref_count":60,"t_alt_count":30,"n_depth":69,"all_effects":"HOOK3,missense_variant,p.K326N,ENST00000307602,NM_032410.4,c.978G>T,MODERATE,YES,deleterious(0),probably_damaging(1),1;HOOK3,non_coding_transcript_exon_variant,,ENST00000527306,,n.1164G>T,MODIFIER,,,,1","Allele":"T","Gene":"ENSG00000168172","Feature":"ENST00000307602","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"1132/14348","CDS_position":"978/2157","Protein_position":"326/718","Amino_acids":"K/N","Codons":"aaG/aaT","Existing_variation":"COSV56883067","TRANSCRIPT_STRAND":1,"SYMBOL":"HOOK3","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:23576","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS6139.1","ENSP":"ENSP00000305699","SWISSPROT":"Q86VS8.148","UNIPARC":"UPI000006DD7B","RefSeq":"NM_032410.4","MANE":"NM_032410.4","APPRIS":"P1","SIFT":"deleterious(0)","PolyPhen":"probably_damaging(1)","EXON":"11/22","DOMAINS":"Coiled-coils_(Ncoils):Coil;Pfam:PF05622;PANTHER:PTHR18947;PANTHER:PTHR18947:SF38","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","GENE_PHENO":"1","CONTEXT":"AAGAAGCTAGA","tumor_bam_uuid":"098d1109-cef0-495b-81d2-7abf1386babd","normal_bam_uuid":"c763363e-a77d-4d42-9029-6a51daa862c4","case_id":"33c71ead-4c2a-476d-85ef-885dbbfc2cbd","COSMIC":"COSM6113327","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"369","Hugo_Symbol":"ALG10B","Entrez_Gene_Id":144245,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr12","Start_Position":38321120,"End_Position":38321120,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"G","Tumor_Sample_Barcode":"TCGA-55-8092-01A-11D-2238-08","Matched_Norm_Sample_Barcode":"TCGA-55-8092-10A-01D-2238-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"0e9d858d-0828-4723-a680-d42bc955a299","Matched_Norm_Sample_UUID":"ef1c28ac-9374-4a33-b898-e9305aa26b0a","HGVSc":"c.1329C>G","HGVSp":"p.Cys443Trp","HGVSp_Short":"p.C443W","Transcript_ID":"ENST00000308742","Exon_Number":"3/3","t_depth":182,"t_ref_count":111,"t_alt_count":71,"n_depth":170,"all_effects":"ALG10B,missense_variant,p.C443W,ENST00000308742,NM_001013620.4,c.1329C>G,MODERATE,YES,deleterious(0.01),benign(0),1;ALG10B,intron_variant,,ENST00000551464,NM_001308340.2,c.369+2662C>G,MODIFIER,,,,1;ALG10B,3_prime_UTR_variant,,ENST00000548240,,c.*1069C>G,MODIFIER,,,,1;ALG10B,downstream_gene_variant,,ENST00000553138,,,MODIFIER,,,,1","Allele":"G","Gene":"ENSG00000175548","Feature":"ENST00000308742","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"1449/10050","CDS_position":"1329/1422","Protein_position":"443/473","Amino_acids":"C/W","Codons":"tgC/tgG","Existing_variation":"COSV100439830","TRANSCRIPT_STRAND":1,"SYMBOL":"ALG10B","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:31088","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS31772.1","ENSP":"ENSP00000310120","SWISSPROT":"Q5I7T1.125","UNIPARC":"UPI000013EDA4","RefSeq":"NM_001013620.4","MANE":"NM_001013620.4","APPRIS":"P1","SIFT":"deleterious(0.01)","PolyPhen":"benign(0)","EXON":"3/3","DOMAINS":"PIRSF:PIRSF028810;PANTHER:PTHR12989;PANTHER:PTHR12989:SF12;Transmembrane_helices:TMhelix","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","GENE_PHENO":"1","CONTEXT":"AGTTGCTATGC","tumor_bam_uuid":"5077c8d1-d9ff-4b94-b76a-7461aa28066c","normal_bam_uuid":"7e8bc385-336f-45e2-94f8-17b4299fe2d1","case_id":"4b92fce2-3772-40eb-ab34-a27937b58590","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"177","Hugo_Symbol":"ADGRA3","Entrez_Gene_Id":166647,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr4","Start_Position":22388443,"End_Position":22388443,"Strand":"+","Variant_Classification":"Silent","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"A","dbSNP_RS":"rs767346100","Tumor_Sample_Barcode":"TCGA-55-7283-01A-11D-2036-08","Matched_Norm_Sample_Barcode":"TCGA-55-7283-10A-01D-2036-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"a16e4263-6135-4ce4-929a-5e98395fa60a","Matched_Norm_Sample_UUID":"fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83","HGVSc":"c.3228C>T","HGVSp":"p.Pro1076=","HGVSp_Short":"p.P1076=","Transcript_ID":"ENST00000334304","Exon_Number":"19/19","t_depth":32,"t_ref_count":27,"t_alt_count":5,"n_depth":49,"all_effects":"ADGRA3,synonymous_variant,p.P1076=,ENST00000334304,NM_145290.4,c.3228C>T,LOW,YES,,,-1;ADGRA3,non_coding_transcript_exon_variant,,ENST00000282943,,n.2799C>T,MODIFIER,,,,-1;ADGRA3,downstream_gene_variant,,ENST00000504617,,,MODIFIER,,,,-1;ADGRA3,non_coding_transcript_exon_variant,,ENST00000499527,,n.2925C>T,MODIFIER,,,,-1;ADGRA3,intron_variant,,ENST00000511051,,c.104+645C>T,MODIFIER,,,,-1","Allele":"A","Gene":"ENSG00000152990","Feature":"ENST00000334304","Feature_type":"Transcript","One_Consequence":"synonymous_variant","Consequence":"synonymous_variant","cDNA_position":"3510/4577","CDS_position":"3228/3966","Protein_position":"1076/1321","Amino_acids":"P","Codons":"ccC/ccT","Existing_variation":"rs767346100;COSV51560806","TRANSCRIPT_STRAND":-1,"SYMBOL":"ADGRA3","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:13839","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS33964.1","ENSP":"ENSP00000334952","SWISSPROT":"Q8IWK6.160","UNIPARC":"UPI00001D7735","UNIPROT_ISOFORM":"Q8IWK6-1","RefSeq":"NM_145290.4","MANE":"NM_145290.4","APPRIS":"P1","EXON":"19/19","DOMAINS":"PANTHER:PTHR45930;PANTHER:PTHR45930:SF2","gnomAD_AF":"3.985e-06","gnomAD_AFR_AF":"0","gnomAD_AMR_AF":"0","gnomAD_ASJ_AF":"0","gnomAD_EAS_AF":"0","gnomAD_FIN_AF":"0","gnomAD_NFE_AF":"8.823e-06","gnomAD_OTH_AF":"0","gnomAD_SAS_AF":"0","MAX_AF":"8.823e-06","MAX_AF_POPS":"gnomAD_NFE","SOMATIC":"0;1","IMPACT":"LOW","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"0;1","CONTEXT":"TTGGGGGGCTG","tumor_bam_uuid":"3f0890a0-ad5b-4251-9b1d-ae2824a22456","normal_bam_uuid":"0b2f4493-380c-40c8-bf78-485bcee8b80b","case_id":"ccfdad76-cc45-447f-bed8-ede8f6a8844d","COSMIC":"COSM6167312","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"600","Hugo_Symbol":"DTNA","Entrez_Gene_Id":1837,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr18","Start_Position":34838776,"End_Position":34838776,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-49-AAR2-01A-11D-A397-08","Matched_Norm_Sample_Barcode":"TCGA-49-AAR2-11A-11D-A39A-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"88619e74-2d27-4ccf-9125-6d464b4291db","Matched_Norm_Sample_UUID":"a59a0290-0e9f-4f32-b564-5ffa20e6ae32","HGVSc":"c.1204C>A","HGVSp":"p.Leu402Ile","HGVSp_Short":"p.L402I","Transcript_ID":"ENST00000399113","Exon_Number":"12/21","t_depth":119,"t_ref_count":60,"t_alt_count":59,"n_depth":69,"all_effects":"DTNA,missense_variant,p.L402I,ENST00000444659,NM_001390.4,c.1204C>A,MODERATE,YES,deleterious(0.03),benign(0.03),1;DTNA,missense_variant,p.L399I,ENST00000348997,NM_032978.7&NM_001391.5,c.1195C>A,MODERATE,,deleterious(0.04),benign(0.073),1;DTNA,missense_variant,p.L402I,ENST00000399113,,c.1204C>A,MODERATE,,deleterious(0.03),benign(0.03),1;DTNA,missense_variant,p.L111I,ENST00000269192,NM_001198942.1,c.331C>A,MODERATE,,deleterious_low_confidence(0.04),benign(0.266),1;DTNA,intron_variant,,ENST00000283365,NM_032975.3,c.1095-9520C>A,MODIFIER,,,,1;DTNA,intron_variant,,ENST00000399121,NM_001198939.2,c.1086-9520C>A,MODIFIER,,,,1;DTNA,intron_variant,,ENST00000556414,NM_001198944.1,c.221+9287C>A,MODIFIER,,,,1;DTNA,intron_variant,,ENST00000587723,,c.63-9520C>A,MODIFIER,,,,1;DTNA,intron_variant,,ENST00000591182,NM_032980.4,c.209+605C>A,MODIFIER,,,,1;DTNA,intron_variant,,ENST00000595022,NM_001198940.2,c.1086-9520C>A,MODIFIER,,,,1;DTNA,intron_variant,,ENST00000596745,NM_001198945.2,c.604-13055C>A,MODIFIER,,,,1;DTNA,intron_variant,,ENST00000597599,NM_001198941.2,c.1086-9520C>A,MODIFIER,,,,1;DTNA,intron_variant,,ENST00000597674,NM_032981.5,c.132-9520C>A,MODIFIER,,,,1;DTNA,intron_variant,,ENST00000598142,,c.1095-9520C>A,MODIFIER,,,,1;DTNA,intron_variant,,ENST00000598334,NM_001198938.2,c.1086-9520C>A,MODIFIER,,,,1;DTNA,intron_variant,,ENST00000598774,NM_032979.5,c.1095-9520C>A,MODIFIER,,,,1;DTNA,intron_variant,,ENST00000599844,,c.132-9520C>A,MODIFIER,,,,1;DTNA,intron_variant,,ENST00000601125,NM_001198943.1,c.132-9520C>A,MODIFIER,,,,1;DTNA,non_coding_transcript_exon_variant,,ENST00000601632,,n.478C>A,MODIFIER,,,,1;DTNA,intron_variant,,ENST00000601895,,n.368+9287C>A,MODIFIER,,,,1","Allele":"A","Gene":"ENSG00000134769","Feature":"ENST00000399113","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"1204/2232","CDS_position":"1204/2232","Protein_position":"402/743","Amino_acids":"L/I","Codons":"Cta/Ata","Existing_variation":"COSV99311059","TRANSCRIPT_STRAND":1,"SYMBOL":"DTNA","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:3057","BIOTYPE":"protein_coding","ENSP":"ENSP00000382064","SWISSPROT":"Q9Y4J8.191","UNIPARC":"UPI000013DD3C","UNIPROT_ISOFORM":"Q9Y4J8-1","APPRIS":"A1","SIFT":"deleterious(0.03)","PolyPhen":"benign(0.03)","EXON":"12/21","DOMAINS":"PANTHER:PTHR12268:SF19;PANTHER:PTHR12268;PIRSF:PIRSF038204","SOMATIC":"1","IMPACT":"MODERATE","VARIANT_CLASS":"SNV","TSL":5,"PHENO":"1","GENE_PHENO":"1","CONTEXT":"ACAGGCTAGCT","tumor_bam_uuid":"e9f5c278-50d1-49e0-8b8d-dff79c8201a0","normal_bam_uuid":"e68e6b39-e64a-4407-904a-82a62c157223","case_id":"f809e7d9-a75e-41c9-ac2c-5bec6ffcb4a2","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"495","Hugo_Symbol":"MORC4","Entrez_Gene_Id":79710,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chrX","Start_Position":106942731,"End_Position":106942731,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"G","Tumor_Sample_Barcode":"TCGA-69-7979-01A-11D-2184-08","Matched_Norm_Sample_Barcode":"TCGA-69-7979-10A-01D-2184-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"6400fd9c-3e0d-417e-823a-bf9eb0129717","Matched_Norm_Sample_UUID":"caa9cc86-69ca-4da0-9356-2b49dfc88dad","HGVSc":"c.2160G>C","HGVSp":"p.Glu720Asp","HGVSp_Short":"p.E720D","Transcript_ID":"ENST00000355610","Exon_Number":"15/17","t_depth":156,"t_ref_count":142,"t_alt_count":14,"n_depth":158,"all_effects":"MORC4,missense_variant,p.E720D,ENST00000355610,NM_024657.5,c.2160G>C,MODERATE,YES,tolerated(0.4),benign(0.142),-1;MORC4,missense_variant,p.E720D,ENST00000255495,NM_001085354.3,c.2160G>C,MODERATE,,tolerated_low_confidence(0.45),benign(0.011),-1;MORC4,intron_variant,,ENST00000604604,,c.111+50499G>C,MODIFIER,,,,-1;MORC4,upstream_gene_variant,,ENST00000478924,,,MODIFIER,,,,-1","Allele":"G","Gene":"ENSG00000133131","Feature":"ENST00000355610","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"2403/3798","CDS_position":"2160/2814","Protein_position":"720/937","Amino_acids":"E/D","Codons":"gaG/gaC","Existing_variation":"COSV55244680","TRANSCRIPT_STRAND":-1,"SYMBOL":"MORC4","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:23485","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS14525.2","ENSP":"ENSP00000347821","SWISSPROT":"Q8TE76.143","UNIPARC":"UPI00003E75D3","UNIPROT_ISOFORM":"Q8TE76-1","RefSeq":"NM_024657.5","MANE":"NM_024657.5","APPRIS":"P4","SIFT":"tolerated(0.4)","PolyPhen":"benign(0.142)","EXON":"15/17","DOMAINS":"PANTHER:PTHR23336:SF22;PANTHER:PTHR23336","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","CONTEXT":"CGTCTCTCAGC","tumor_bam_uuid":"0db85f44-2f3a-4f28-8a66-486a47a34ce3","normal_bam_uuid":"cfba3ae5-92f5-43ab-9415-166ca42aa6dc","case_id":"a5bd7d50-9c14-49e6-89cf-6bf440c42309","COSMIC":"COSM6184704;COSM6184705","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2"}
{"X1":"235","Hugo_Symbol":"TUBA1A","Entrez_Gene_Id":7846,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr12","Start_Position":49185081,"End_Position":49185081,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"G","dbSNP_RS":"rs1565626872","Tumor_Sample_Barcode":"TCGA-78-8662-01A-11D-2393-08","Matched_Norm_Sample_Barcode":"TCGA-78-8662-10A-01D-2393-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"30a18e06-a219-42fb-934d-05dab59924d2","Matched_Norm_Sample_UUID":"9ba38ffb-4d0d-46f6-ac56-8eeb499610cc","HGVSc":"c.1285G>C","HGVSp":"p.Glu429Gln","HGVSp_Short":"p.E429Q","Transcript_ID":"ENST00000295766","Exon_Number":"4/4","t_depth":200,"t_ref_count":122,"t_alt_count":78,"n_depth":354,"all_effects":"TUBA1A,missense_variant,p.E429Q,ENST00000295766,NM_001270399.1,c.1285G>C,MODERATE,YES,deleterious_low_confidence(0.02),probably_damaging(0.934),-1;TUBA1A,missense_variant,p.E429Q,ENST00000301071,NM_006009.4,c.1285G>C,MODERATE,,deleterious_low_confidence(0.02),probably_damaging(0.934),-1;TUBA1A,missense_variant,p.E394Q,ENST00000550767,NM_001270400.1,c.1180G>C,MODERATE,,deleterious_low_confidence(0.02),probably_damaging(0.934),-1;TUBA1A,downstream_gene_variant,,ENST00000546918,,,MODIFIER,,,,-1;TUBA1A,downstream_gene_variant,,ENST00000547939,,,MODIFIER,,,,-1;TUBA1A,downstream_gene_variant,,ENST00000550811,,,MODIFIER,,,,-1;TUBA1A,downstream_gene_variant,,ENST00000552924,,,MODIFIER,,,,-1;TUBA1C,upstream_gene_variant,,ENST00000549554,,,MODIFIER,,,,1;TUBA1A,downstream_gene_variant,,ENST00000548363,,,MODIFIER,,,,-1;TUBA1A,downstream_gene_variant,,ENST00000550254,,,MODIFIER,,,,-1;AC011603.2,intron_variant,,ENST00000656133,,n.474-3202C>G,MODIFIER,,,,1","Allele":"G","Gene":"ENSG00000167552","Feature":"ENST00000295766","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"1765/1887","CDS_position":"1285/1356","Protein_position":"429/451","Amino_acids":"E/Q","Codons":"Gag/Cag","Existing_variation":"rs1565626872;CM145638;COSV55498842","TRANSCRIPT_STRAND":-1,"SYMBOL":"TUBA1A","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:20766","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS58227.1","ENSP":"ENSP00000439020","SWISSPROT":"Q71U36.169","UNIPARC":"UPI0000000DB2","UNIPROT_ISOFORM":"Q71U36-1","RefSeq":"NM_001270399.1","APPRIS":"P1","SIFT":"deleterious_low_confidence(0.02)","PolyPhen":"probably_damaging(0.934)","EXON":"4/4","DOMAINS":"Gene3D:1.10.287.600;PDB-ENSP_mappings:5jco.A;PDB-ENSP_mappings:5jco.B;PDB-ENSP_mappings:5jco.E;PDB-ENSP_mappings:5jco.F;PDB-ENSP_mappings:5jco.G;PDB-ENSP_mappings:5jco.H;Prints:PR01162;PANTHER:PTHR11588;PANTHER:PTHR11588:SF292;Superfamily:SSF55307;CDD:cd02186","CLIN_SIG":"pathogenic","SOMATIC":"0;0;1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":2,"PHENO":"1;1;1","GENE_PHENO":"1","CONTEXT":"CTTCTCAAGGG","tumor_bam_uuid":"a219922f-d967-4bb8-8215-2d8c7b5f9967","normal_bam_uuid":"def870a2-bbc3-4e7b-a8f8-1fb10a2c7ffc","case_id":"16e64a1e-08b0-4c27-8c69-fa64551f8ca4","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"347","Hugo_Symbol":"ZMYM4","Entrez_Gene_Id":9202,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr1","Start_Position":35381680,"End_Position":35381680,"Strand":"+","Variant_Classification":"Silent","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"T","dbSNP_RS":"rs769276587","Tumor_Sample_Barcode":"TCGA-44-2656-01A-02D-A271-08","Matched_Norm_Sample_Barcode":"TCGA-44-2656-10A-01D-0969-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"989eccfd-d0e0-45ca-af4c-7324d450e956","Matched_Norm_Sample_UUID":"03b8420d-480f-48e1-88a7-8ee9917049a6","HGVSc":"c.1491G>T","HGVSp":"p.Ser497=","HGVSp_Short":"p.S497=","Transcript_ID":"ENST00000314607","Exon_Number":"9/30","t_depth":117,"t_ref_count":101,"t_alt_count":16,"n_depth":172,"all_effects":"ZMYM4,synonymous_variant,p.S497=,ENST00000314607,NM_001350138.2&NM_005095.3&NM_001375653.1,c.1491G>T,LOW,YES,,,1;ZMYM4,synonymous_variant,p.S246=,ENST00000457946,NM_001350140.2&NM_001350139.2,c.738G>T,LOW,,,,1","Allele":"T","Gene":"ENSG00000146463","Feature":"ENST00000314607","Feature_type":"Transcript","One_Consequence":"synonymous_variant","Consequence":"synonymous_variant","cDNA_position":"1829/7366","CDS_position":"1491/4647","Protein_position":"497/1548","Amino_acids":"S","Codons":"tcG/tcT","Existing_variation":"rs769276587;COSV58907535","TRANSCRIPT_STRAND":1,"SYMBOL":"ZMYM4","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:13055","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS389.1","ENSP":"ENSP00000322915","SWISSPROT":"Q5VZL5.137","UNIPARC":"UPI0000203EE6","UNIPROT_ISOFORM":"Q5VZL5-1","RefSeq":"NM_001350138.2;NM_005095.3;NM_001375653.1","MANE":"NM_005095.3","APPRIS":"P1","EXON":"9/30","DOMAINS":"Pfam:PF06467;PANTHER:PTHR45736;PANTHER:PTHR45736:SF5;SMART:SM00746;Low_complexity_(Seg):seg","gnomAD_AF":"3.978e-06","gnomAD_AFR_AF":"0","gnomAD_AMR_AF":"0","gnomAD_ASJ_AF":"0","gnomAD_EAS_AF":"5.438e-05","gnomAD_FIN_AF":"0","gnomAD_NFE_AF":"0","gnomAD_OTH_AF":"0","gnomAD_SAS_AF":"0","MAX_AF":"5.438e-05","MAX_AF_POPS":"gnomAD_EAS","SOMATIC":"0;1","IMPACT":"LOW","PICK":1,"VARIANT_CLASS":"SNV","TSL":2,"PHENO":"0;1","CONTEXT":"GGGTCGGGACA","tumor_bam_uuid":"c9d383fc-9657-4a4e-8939-af266b798094","normal_bam_uuid":"ada4ffdf-3ba5-4ad0-8eb4-634d04b2b9b8","case_id":"42ca54fc-c1ae-41cd-bca1-7fe9810db460","COSMIC":"COSM6063270;COSM6063271","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"217","Hugo_Symbol":"ATP1B4","Entrez_Gene_Id":23439,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chrX","Start_Position":120371152,"End_Position":120371152,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-86-8054-01A-11D-2238-08","Matched_Norm_Sample_Barcode":"TCGA-86-8054-10A-01D-2238-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"c8fc382c-4d04-4ca7-a289-235957d3bb04","Matched_Norm_Sample_UUID":"ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3","HGVSc":"c.504C>A","HGVSp":"p.Asn168Lys","HGVSp_Short":"p.N168K","Transcript_ID":"ENST00000218008","Exon_Number":"4/8","t_depth":73,"t_ref_count":15,"t_alt_count":58,"n_depth":110,"all_effects":"ATP1B4,missense_variant,p.N168K,ENST00000218008,NM_001142447.3,c.504C>A,MODERATE,YES,deleterious(0),probably_damaging(1),1;ATP1B4,missense_variant,p.N125K,ENST00000539306,,c.375C>A,MODERATE,,deleterious(0),probably_damaging(1),1;ATP1B4,missense_variant,p.N164K,ENST00000361319,NM_012069.5,c.492C>A,MODERATE,,deleterious(0),probably_damaging(0.999),1","Allele":"A","Gene":"ENSG00000101892","Feature":"ENST00000218008","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"584/4757","CDS_position":"504/1074","Protein_position":"168/357","Amino_acids":"N/K","Codons":"aaC/aaA","Existing_variation":"COSV54314410;COSV99486465","TRANSCRIPT_STRAND":1,"SYMBOL":"ATP1B4","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:808","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS48158.1","ENSP":"ENSP00000218008","SWISSPROT":"Q9UN42.153","UNIPARC":"UPI00001262A4","UNIPROT_ISOFORM":"Q9UN42-1","RefSeq":"NM_001142447.3","MANE":"NM_001142447.3","APPRIS":"P1","SIFT":"deleterious(0)","PolyPhen":"probably_damaging(1)","EXON":"4/8","DOMAINS":"Gene3D:2.60.40.1660;Pfam:PF00287;PANTHER:PTHR11523;PANTHER:PTHR11523:SF12;TIGRFAM:TIGR01107","SOMATIC":"1;1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1;1","CONTEXT":"TTCAACGTTTC","tumor_bam_uuid":"7e9770dc-54a1-4620-8cec-89c6d382b6c6","normal_bam_uuid":"dc7c635e-16b4-425e-99b0-8650475ea1f2","case_id":"0fe909ea-d52c-4b71-816f-57f62d4a5744","COSMIC":"COSM6185138;COSM6185139","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"400","Hugo_Symbol":"HOXA7","Entrez_Gene_Id":3204,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr7","Start_Position":27155029,"End_Position":27155029,"Strand":"+","Variant_Classification":"Silent","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-NJ-A4YF-01A-12D-A25L-08","Matched_Norm_Sample_Barcode":"TCGA-NJ-A4YF-10A-01D-A25L-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"3052fdbb-2e49-4d68-91b9-993bd2d6d6b1","Matched_Norm_Sample_UUID":"169d6639-f7f7-4c2c-a72f-0add3e667da6","HGVSc":"c.573C>T","HGVSp":"p.Asp191=","HGVSp_Short":"p.D191=","Transcript_ID":"ENST00000242159","Exon_Number":"2/2","t_depth":181,"t_ref_count":148,"t_alt_count":32,"n_depth":200,"all_effects":"HOXA7,synonymous_variant,p.D191=,ENST00000242159,NM_006896.4,c.573C>T,LOW,YES,,,-1;HOXA7,downstream_gene_variant,,ENST00000519842,,,MODIFIER,,,,-1;HOXA7,non_coding_transcript_exon_variant,,ENST00000523796,,n.226C>T,MODIFIER,,,,-1;HOXA3,upstream_gene_variant,,ENST00000518451,,,MODIFIER,,,,-1;HOXA6,upstream_gene_variant,,ENST00000521478,,,MODIFIER,,,,-1;HOXA-AS3,non_coding_transcript_exon_variant,,ENST00000518947,,n.3093G>A,MODIFIER,YES,,,1;AC004080.6,upstream_gene_variant,,ENST00000467897,,,MODIFIER,YES,,,-1;AC004080.5,upstream_gene_variant,,ENST00000498652,,,MODIFIER,YES,,,-1;HOXA-AS3,downstream_gene_variant,,ENST00000518848,,,MODIFIER,,,,1;HOXA-AS3,downstream_gene_variant,,ENST00000521197,,,MODIFIER,,,,1;HOXA-AS3,downstream_gene_variant,,ENST00000521231,,,MODIFIER,,,,1;HOXA-AS3,downstream_gene_variant,,ENST00000524304,,,MODIFIER,,,,1;AC004080.4,upstream_gene_variant,,ENST00000602610,,,MODIFIER,YES,,,1","Allele":"A","Gene":"ENSG00000122592","Feature":"ENST00000242159","Feature_type":"Transcript","One_Consequence":"synonymous_variant","Consequence":"synonymous_variant","cDNA_position":"703/2016","CDS_position":"573/693","Protein_position":"191/230","Amino_acids":"D","Codons":"gaC/gaT","Existing_variation":"COSV99636181","TRANSCRIPT_STRAND":-1,"SYMBOL":"HOXA7","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:5108","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS5408.1","ENSP":"ENSP00000242159","SWISSPROT":"P31268.179","UNIPARC":"UPI000013CAF3","RefSeq":"NM_006896.4","MANE":"NM_006896.4","APPRIS":"P1","EXON":"2/2","DOMAINS":"PANTHER:PTHR45659;PANTHER:PTHR45659:SF12;SMART:SM00389;MobiDB_lite:mobidb-lite;Low_complexity_(Seg):seg","SOMATIC":"1","IMPACT":"LOW","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","CONTEXT":"CCTTCGTCCTT","tumor_bam_uuid":"c3eb33f9-fc1e-4ae3-81bb-eac9a5d8b914","normal_bam_uuid":"5cdf52ba-a71b-480f-ad60-8420211fadd6","case_id":"595fc3ad-f603-421b-b130-52f1f617050b","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"219","Hugo_Symbol":"LY75","Entrez_Gene_Id":4065,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr2","Start_Position":159816823,"End_Position":159816823,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-55-8089-01A-11D-2238-08","Matched_Norm_Sample_Barcode":"TCGA-55-8089-10A-01D-2238-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"a5056023-b935-4a18-821b-2ff8562b2c2a","Matched_Norm_Sample_UUID":"4380ca33-2c75-4d97-9112-38a626c1cc6d","HGVSc":"c.4363G>T","HGVSp":"p.Gly1455Trp","HGVSp_Short":"p.G1455W","Transcript_ID":"ENST00000263636","Exon_Number":"30/35","t_depth":80,"t_ref_count":72,"t_alt_count":8,"n_depth":110,"all_effects":"LY75,missense_variant,p.G1455W,ENST00000263636,NM_002349.4,c.4363G>T,MODERATE,YES,deleterious(0),probably_damaging(1),-1;LY75-CD302,missense_variant,p.G1455W,ENST00000504764,NM_001198759.1,c.4363G>T,MODERATE,YES,deleterious(0),probably_damaging(1),-1;LY75-CD302,missense_variant,p.G1455W,ENST00000505052,NM_001198760.1,c.4363G>T,MODERATE,,deleterious(0),probably_damaging(1),-1;AC009961.2,upstream_gene_variant,,ENST00000435771,,,MODIFIER,YES,,,-1","Allele":"A","Gene":"ENSG00000054219","Feature":"ENST00000263636","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"4437/6932","CDS_position":"4363/5169","Protein_position":"1455/1722","Amino_acids":"G/W","Codons":"Ggg/Tgg","Existing_variation":"COSV55110424","TRANSCRIPT_STRAND":-1,"SYMBOL":"LY75","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:6729","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS2211.1","ENSP":"ENSP00000263636","SWISSPROT":"O60449.175","UNIPARC":"UPI00001AE885","RefSeq":"NM_002349.4","MANE":"NM_002349.4","APPRIS":"P1","SIFT":"deleterious(0)","PolyPhen":"probably_damaging(1)","EXON":"30/35","DOMAINS":"PROSITE_profiles:PS50041;CDD:cd00037;PANTHER:PTHR22803:SF65;PANTHER:PTHR22803;Pfam:PF00059;Gene3D:3.10.100.10;SMART:SM00034;Superfamily:SSF56436","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","CONTEXT":"GAGCCCAACCC","tumor_bam_uuid":"4eb81955-eeef-4d54-9d97-ddeb3337a1cf","normal_bam_uuid":"da0262c0-f23a-475c-9c8b-80b9c2798d14","case_id":"1070ff27-17c9-43dd-a4f6-daa643eb9123","COSMIC":"COSM6154621","hotspot":"N","RNA_Support":"Unknown","callers":"muse;varscan2"}
{"X1":"340","Hugo_Symbol":"BCLAF1","Entrez_Gene_Id":9774,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr6","Start_Position":136278347,"End_Position":136278347,"Strand":"+","Variant_Classification":"Silent","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-64-5781-01A-01D-1625-08","Matched_Norm_Sample_Barcode":"TCGA-64-5781-10A-01D-1625-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce","Matched_Norm_Sample_UUID":"3bd98c92-eaf2-4469-bc17-509bb7cd2197","HGVSc":"c.534G>T","HGVSp":"p.Pro178=","HGVSp_Short":"p.P178=","Transcript_ID":"ENST00000531224","Exon_Number":"4/13","t_depth":185,"t_ref_count":169,"t_alt_count":16,"n_depth":196,"all_effects":"BCLAF1,synonymous_variant,p.P178=,ENST00000531224,NM_014739.3,c.534G>T,LOW,YES,,,-1;BCLAF1,synonymous_variant,p.P176=,ENST00000353331,NM_001077440.1,c.528G>T,LOW,,,,-1;BCLAF1,synonymous_variant,p.P178=,ENST00000527536,NM_001363659.2,c.534G>T,LOW,,,,-1;BCLAF1,synonymous_variant,p.P176=,ENST00000527759,NM_001301038.2,c.528G>T,LOW,,,,-1;BCLAF1,synonymous_variant,p.P178=,ENST00000530767,NM_001077441.2,c.534G>T,LOW,,,,-1;BCLAF1,synonymous_variant,p.P176=,ENST00000392348,,c.528G>T,LOW,,,,-1;BCLAF1,synonymous_variant,p.P178=,ENST00000628517,,c.534G>T,LOW,,,,-1;BCLAF1,synonymous_variant,p.P178=,ENST00000529826,,c.534G>T,LOW,,,,-1;BCLAF1,synonymous_variant,p.P178=,ENST00000640069,,c.534G>T,LOW,,,,-1;BCLAF1,synonymous_variant,p.P178=,ENST00000527613,,c.534G>T,LOW,,,,-1;BCLAF1,synonymous_variant,p.P176=,ENST00000534269,,c.528G>T,LOW,,,,-1;BCLAF1,synonymous_variant,p.P178=,ENST00000532384,,c.534G>T,LOW,,,,-1;BCLAF1,synonymous_variant,p.P176=,ENST00000530429,,c.528G>T,LOW,,,,-1;BCLAF1,upstream_gene_variant,,ENST00000476194,,,MODIFIER,,,,-1;BCLAF1,downstream_gene_variant,,ENST00000528229,,,MODIFIER,,,,-1;BCLAF1,upstream_gene_variant,,ENST00000533621,,,MODIFIER,,,,-1","Allele":"A","Gene":"ENSG00000029363","Feature":"ENST00000531224","Feature_type":"Transcript","One_Consequence":"synonymous_variant","Consequence":"synonymous_variant","cDNA_position":"782/7494","CDS_position":"534/2763","Protein_position":"178/920","Amino_acids":"P","Codons":"ccG/ccT","Existing_variation":"COSV62142934","TRANSCRIPT_STRAND":-1,"SYMBOL":"BCLAF1","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:16863","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS5177.1","ENSP":"ENSP00000435210","SWISSPROT":"Q9NYF8.180","UNIPARC":"UPI000006FCE7","UNIPROT_ISOFORM":"Q9NYF8-1","RefSeq":"NM_014739.3","MANE":"NM_014739.3","APPRIS":"P4","EXON":"4/13","DOMAINS":"Pfam:PF15440;PANTHER:PTHR15268;PANTHER:PTHR15268:SF4;MobiDB_lite:mobidb-lite;MobiDB_lite:mobidb-lite","SOMATIC":"1","IMPACT":"LOW","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","GENE_PHENO":"1","CONTEXT":"TTCAACGGACT","tumor_bam_uuid":"d7efa6c5-a0f2-4845-a009-5417944d76d5","normal_bam_uuid":"10e2e3c0-0507-45eb-84ed-dd1edd04ac50","case_id":"41c4c704-825e-49f5-9d54-dbd7d30725e0","COSMIC":"COSM594525","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2"}
{"X1":"495","Hugo_Symbol":"ACTN3","Entrez_Gene_Id":89,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr11","Start_Position":66558171,"End_Position":66558171,"Strand":"+","Variant_Classification":"Silent","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-69-7979-01A-11D-2184-08","Matched_Norm_Sample_Barcode":"TCGA-69-7979-10A-01D-2184-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"6400fd9c-3e0d-417e-823a-bf9eb0129717","Matched_Norm_Sample_UUID":"caa9cc86-69ca-4da0-9356-2b49dfc88dad","HGVSc":"c.1273C>A","HGVSp":"p.Arg425=","HGVSp_Short":"p.R425=","Transcript_ID":"ENST00000513398","Exon_Number":"11/21","t_depth":102,"t_ref_count":66,"t_alt_count":36,"n_depth":115,"all_effects":"ACTN3,synonymous_variant,p.R468=,ENST00000502692,NM_001258371.2,c.1402C>A,LOW,YES,,,1;ACTN3,synonymous_variant,p.R425=,ENST00000513398,NM_001104.4,c.1273C>A,LOW,,,,1;ACTN3,downstream_gene_variant,,ENST00000511191,,,MODIFIER,,,,1;AP002748.2,downstream_gene_variant,,ENST00000504911,,,MODIFIER,YES,,,-1","Allele":"A","Gene":"ENSG00000248746","Feature":"ENST00000513398","Feature_type":"Transcript","One_Consequence":"synonymous_variant","Consequence":"synonymous_variant","cDNA_position":"1308/2882","CDS_position":"1273/2706","Protein_position":"425/901","Amino_acids":"R","Codons":"Cgg/Agg","Existing_variation":"COSV72207634","TRANSCRIPT_STRAND":1,"SYMBOL":"ACTN3","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:165","BIOTYPE":"protein_coding","CCDS":"CCDS53663.1","ENSP":"ENSP00000426797","SWISSPROT":"Q08043.182","UNIPARC":"UPI000183CB47","RefSeq":"NM_001104.4","MANE":"NM_001104.4","APPRIS":"P1","EXON":"11/21","DOMAINS":"CDD:cd00176;CDD:cd00176;PANTHER:PTHR23167:SF50;PANTHER:PTHR23167;Gene3D:1.20.58.60;Pfam:PF00435;SMART:SM00150;Superfamily:SSF46966","SOMATIC":"1","IMPACT":"LOW","VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","GENE_PHENO":"1","CONTEXT":"GGACCCGGGGT","tumor_bam_uuid":"0db85f44-2f3a-4f28-8a66-486a47a34ce3","normal_bam_uuid":"cfba3ae5-92f5-43ab-9415-166ca42aa6dc","case_id":"a5bd7d50-9c14-49e6-89cf-6bf440c42309","COSMIC":"COSN24409817","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"285","Hugo_Symbol":"NSDHL","Entrez_Gene_Id":50814,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chrX","Start_Position":152862723,"End_Position":152862723,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"T","Tumor_Sample_Barcode":"TCGA-MP-A4T4-01A-11D-A25L-08","Matched_Norm_Sample_Barcode":"TCGA-MP-A4T4-10A-01D-A25L-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"0d3441eb-429d-4232-8a50-575d61e654c7","Matched_Norm_Sample_UUID":"a2015f6f-1e33-42c2-9022-a642942aec68","HGVSc":"c.542G>T","HGVSp":"p.Arg181Met","HGVSp_Short":"p.R181M","Transcript_ID":"ENST00000370274","Exon_Number":"5/8","t_depth":146,"t_ref_count":130,"t_alt_count":16,"n_depth":161,"all_effects":"NSDHL,missense_variant,p.R181M,ENST00000370274,NM_015922.3,c.542G>T,MODERATE,YES,deleterious(0.03),possibly_damaging(0.855),1;NSDHL,missense_variant,p.R181M,ENST00000440023,NM_001129765.1,c.542G>T,MODERATE,,deleterious(0.03),possibly_damaging(0.855),1;NSDHL,missense_variant,p.R181M,ENST00000432467,,c.542G>T,MODERATE,,deleterious(0.03),possibly_damaging(0.855),1","Allele":"T","Gene":"ENSG00000147383","Feature":"ENST00000370274","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant;splice_region_variant","cDNA_position":"640/1833","CDS_position":"542/1122","Protein_position":"181/373","Amino_acids":"R/M","Codons":"aGg/aTg","Existing_variation":"COSV100938687","TRANSCRIPT_STRAND":1,"SYMBOL":"NSDHL","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:13398","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS14717.1","ENSP":"ENSP00000359297","SWISSPROT":"Q15738.177","TREMBL":"A0A384NPZ7.8","UNIPARC":"UPI0000000C8A","RefSeq":"NM_015922.3","MANE":"NM_015922.3","APPRIS":"P1","SIFT":"deleterious(0.03)","PolyPhen":"possibly_damaging(0.855)","EXON":"5/8","DOMAINS":"PDB-ENSP_mappings:6jkg.A;PDB-ENSP_mappings:6jkg.B;PDB-ENSP_mappings:6jkh.A;PDB-ENSP_mappings:6jkh.B;CDD:cd09813;PANTHER:PTHR10366:SF242;PANTHER:PTHR10366;Gene3D:3.40.50.720;Pfam:PF01073;Superfamily:SSF51735","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","GENE_PHENO":"1","CONTEXT":"GGAGAGGGTAT","tumor_bam_uuid":"94f2ba97-d1c2-4130-bdd0-758a192ca45d","normal_bam_uuid":"d5b68ffc-24fa-4b74-8989-66df4f6ff841","case_id":"301ca6e8-7981-4264-b4ae-38f56f7f9225","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"285","Hugo_Symbol":"NLRP13","Entrez_Gene_Id":126204,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr19","Start_Position":55911881,"End_Position":55911881,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"C","Tumor_Sample_Barcode":"TCGA-MP-A4T4-01A-11D-A25L-08","Matched_Norm_Sample_Barcode":"TCGA-MP-A4T4-10A-01D-A25L-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"0d3441eb-429d-4232-8a50-575d61e654c7","Matched_Norm_Sample_UUID":"a2015f6f-1e33-42c2-9022-a642942aec68","HGVSc":"c.1936C>G","HGVSp":"p.Gln646Glu","HGVSp_Short":"p.Q646E","Transcript_ID":"ENST00000342929","Exon_Number":"5/11","t_depth":130,"t_ref_count":99,"t_alt_count":31,"n_depth":149,"all_effects":"NLRP13,missense_variant,p.Q646E,ENST00000588751,NM_001321057.1,c.1936C>G,MODERATE,,deleterious(0),possibly_damaging(0.72),-1;NLRP13,missense_variant,p.Q646E,ENST00000342929,NM_176810.2,c.1936C>G,MODERATE,YES,deleterious(0),probably_damaging(0.914),-1","Allele":"C","Gene":"ENSG00000173572","Feature":"ENST00000342929","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"1936/3132","CDS_position":"1936/3132","Protein_position":"646/1043","Amino_acids":"Q/E","Codons":"Cag/Gag","Existing_variation":"COSV100738504","TRANSCRIPT_STRAND":-1,"SYMBOL":"NLRP13","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:22937","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS33119.1","ENSP":"ENSP00000343891","SWISSPROT":"Q86W25.143","UNIPARC":"UPI00001AEEC8","RefSeq":"NM_176810.2","APPRIS":"P4","SIFT":"deleterious(0)","PolyPhen":"probably_damaging(0.914)","EXON":"5/11","DOMAINS":"PANTHER:PTHR45690;PANTHER:PTHR45690:SF16;Pfam:PF17776;Superfamily:SSF52047","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","CONTEXT":"CTCCTGGGACT","tumor_bam_uuid":"94f2ba97-d1c2-4130-bdd0-758a192ca45d","normal_bam_uuid":"d5b68ffc-24fa-4b74-8989-66df4f6ff841","case_id":"301ca6e8-7981-4264-b4ae-38f56f7f9225","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"67","Hugo_Symbol":"C3","Entrez_Gene_Id":718,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr19","Start_Position":6696385,"End_Position":6696385,"Strand":"+","Variant_Classification":"Silent","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-L9-A8F4-01A-11D-A397-08","Matched_Norm_Sample_Barcode":"TCGA-L9-A8F4-10A-01D-A39A-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"6e41d3ec-afb4-4027-9728-f09f8c37c196","Matched_Norm_Sample_UUID":"a6fd41f7-923e-4022-b2ad-f264552b1732","HGVSc":"c.2944C>T","HGVSp":"p.Leu982=","HGVSp_Short":"p.L982=","Transcript_ID":"ENST00000245907","Exon_Number":"23/41","t_depth":11,"t_ref_count":7,"t_alt_count":4,"n_depth":14,"all_effects":"C3,synonymous_variant,p.L982=,ENST00000245907,NM_000064.4,c.2944C>T,LOW,YES,,,-1;C3,downstream_gene_variant,,ENST00000594005,,,MODIFIER,,,,-1;C3,upstream_gene_variant,,ENST00000598805,,,MODIFIER,,,,-1;C3,downstream_gene_variant,,ENST00000602053,,,MODIFIER,,,,-1","Allele":"A","Gene":"ENSG00000125730","Feature":"ENST00000245907","Feature_type":"Transcript","One_Consequence":"synonymous_variant","Consequence":"synonymous_variant","cDNA_position":"3005/5231","CDS_position":"2944/4992","Protein_position":"982/1663","Amino_acids":"L","Codons":"Ctg/Ttg","Existing_variation":"COSV99837141","TRANSCRIPT_STRAND":-1,"SYMBOL":"C3","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:1318","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS32883.1","ENSP":"ENSP00000245907","SWISSPROT":"P01024.244","TREMBL":"V9HWA9.51","UNIPARC":"UPI000013EC9B","RefSeq":"NM_000064.4","MANE":"NM_000064.4","APPRIS":"P1","EXON":"23/41","DOMAINS":"Gene3D:2.60.120.1540;PDB-ENSP_mappings:2a73.B;PDB-ENSP_mappings:2i07.B;PDB-ENSP_mappings:2icf.B;PDB-ENSP_mappings:2wii.B;PDB-ENSP_mappings:2win.B;PDB-ENSP_mappings:2win.D;PDB-ENSP_mappings:2win.F;PDB-ENSP_mappings:2win.H;PDB-ENSP_mappings:2xwb.B;PDB-ENSP_mappings:2xwb.D;PDB-ENSP_mappings:2xwj.B;PDB-ENSP_mappings:2xwj.D;PDB-ENSP_mappings:2xwj.F;PDB-ENSP_mappings:2xwj.H;PDB-ENSP_mappings:3g6j.B;PDB-ENSP_mappings:3g6j.D;PDB-ENSP_mappings:3l5n.B;PDB-ENSP_mappings:5fo7.B;PDB-ENSP_mappings:5fo8.B;PDB-ENSP_mappings:5fo9.B;PDB-ENSP_mappings:5fo9.E;PDB-ENSP_mappings:5foa.B;PDB-ENSP_mappings:5foa.D;PDB-ENSP_mappings:5fob.B;PDB-ENSP_mappings:5o32.B;PDB-ENSP_mappings:5o32.F;PDB-ENSP_mappings:5o35.B;PDB-ENSP_mappings:6ehg.B;PDB-ENSP_mappings:6ru5.B;PDB-ENSP_mappings:6rur.B;PDB-ENSP_mappings:6rur.H;PDB-ENSP_mappings:6ruv.B;PDB-ENSP_mappings:6ruv.H;PANTHER:PTHR11412;PANTHER:PTHR11412:SF81","SOMATIC":"1","IMPACT":"LOW","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","GENE_PHENO":"1","CONTEXT":"TTGCAGGAGAA","tumor_bam_uuid":"d16b846a-05d3-4470-8735-cd93fe336e5d","normal_bam_uuid":"197912f7-2f86-41ca-bdfb-65322e773cad","case_id":"927fc5e0-2c14-4c20-a49b-f10d8a1175c3","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"518","Hugo_Symbol":"SMPDL3A","Entrez_Gene_Id":10924,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr6","Start_Position":122801329,"End_Position":122801329,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-53-7626-01A-12D-2063-08","Matched_Norm_Sample_Barcode":"TCGA-53-7626-10A-01D-2063-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"0dc05a31-557a-4026-af11-f2dfdb91d5f3","Matched_Norm_Sample_UUID":"5eea1eb3-ae16-4285-a8cb-d71ebfaa362b","HGVSc":"c.491C>A","HGVSp":"p.Thr164Asn","HGVSp_Short":"p.T164N","Transcript_ID":"ENST00000368440","Exon_Number":"4/8","t_depth":155,"t_ref_count":109,"t_alt_count":46,"n_depth":144,"all_effects":"SMPDL3A,missense_variant,p.T164N,ENST00000368440,NM_006714.5,c.491C>A,MODERATE,YES,tolerated(0.24),benign(0.051),1;SMPDL3A,missense_variant,p.T33N,ENST00000539041,NM_001286138.1,c.98C>A,MODERATE,,tolerated(0.22),benign(0.051),1;SMPDL3A,downstream_gene_variant,,ENST00000487215,,,MODIFIER,,,,1","Allele":"A","Gene":"ENSG00000172594","Feature":"ENST00000368440","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"580/1763","CDS_position":"491/1362","Protein_position":"164/453","Amino_acids":"T/N","Codons":"aCc/aAc","Existing_variation":"COSV63755157","TRANSCRIPT_STRAND":1,"SYMBOL":"SMPDL3A","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:17389","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS5128.1","ENSP":"ENSP00000357425","SWISSPROT":"Q92484.144","UNIPARC":"UPI00000701D1","UNIPROT_ISOFORM":"Q92484-1","RefSeq":"NM_006714.5","MANE":"NM_006714.5","APPRIS":"P1","SIFT":"tolerated(0.24)","PolyPhen":"benign(0.051)","EXON":"4/8","DOMAINS":"PDB-ENSP_mappings:5ebb.A;PDB-ENSP_mappings:5ebb.B;PDB-ENSP_mappings:5ebb.C;PDB-ENSP_mappings:5ebe.A;PDB-ENSP_mappings:5ebe.B;PDB-ENSP_mappings:5ebe.C;CDD:cd00842;PANTHER:PTHR10340:SF24;PANTHER:PTHR10340;Pfam:PF00149;PIRSF:PIRSF036767;Superfamily:SSF56300","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","CONTEXT":"AGTCACCAGTA","tumor_bam_uuid":"beec40ea-9b27-455b-bf87-019629f62a38","normal_bam_uuid":"bed2707c-4854-4268-9b86-597bb05dbca7","case_id":"d3ff328c-2488-47bd-8663-366b6812c7b5","COSMIC":"COSM6172582","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"438","Hugo_Symbol":"NALCN","Entrez_Gene_Id":259232,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr13","Start_Position":101345397,"End_Position":101345397,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"T","Tumor_Sample_Barcode":"TCGA-44-4112-01A-01D-A271-08","Matched_Norm_Sample_Barcode":"TCGA-44-4112-10A-01D-1458-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"41758ccb-06c8-4a1e-a490-962cd45d036a","Matched_Norm_Sample_UUID":"b31338fd-60d8-48c2-ab4d-cb5064995245","HGVSc":"c.668C>A","HGVSp":"p.Ala223Asp","HGVSp_Short":"p.A223D","Transcript_ID":"ENST00000251127","Exon_Number":"7/44","t_depth":56,"t_ref_count":38,"t_alt_count":18,"n_depth":255,"all_effects":"NALCN,missense_variant,p.A223D,ENST00000251127,NM_001350749.2&NM_052867.4,c.668C>A,MODERATE,,deleterious(0),possibly_damaging(0.857),-1;NALCN,missense_variant,p.A223D,ENST00000675332,NM_001350748.2,c.668C>A,MODERATE,YES,deleterious(0),probably_damaging(0.98),-1;NALCN,missense_variant,p.A223D,ENST00000676315,NM_001350751.2&NM_001350750.2,c.668C>A,MODERATE,,deleterious(0),probably_damaging(0.966),-1;NALCN,missense_variant,p.A223D,ENST00000675150,,c.668C>A,MODERATE,,deleterious(0),probably_damaging(0.995),-1;NALCN,missense_variant,p.A223D,ENST00000675802,,c.668C>A,MODERATE,,deleterious(0),probably_damaging(0.979),-1;NALCN,non_coding_transcript_exon_variant,,ENST00000676439,,n.842C>A,MODIFIER,,,,-1;NALCN,non_coding_transcript_exon_variant,,ENST00000470333,,n.764C>A,MODIFIER,,,,-1;NALCN,non_coding_transcript_exon_variant,,ENST00000675415,,n.851C>A,MODIFIER,,,,-1;NALCN,non_coding_transcript_exon_variant,,ENST00000674840,,n.766C>A,MODIFIER,,,,-1;NALCN,non_coding_transcript_exon_variant,,ENST00000674904,,n.748C>A,MODIFIER,,,,-1;NALCN,missense_variant,p.A223D,ENST00000648359,,c.668C>A,MODERATE,,deleterious(0),probably_damaging(0.913),-1;NALCN,missense_variant,p.A223D,ENST00000497170,,c.668C>A,MODERATE,,deleterious(0),probably_damaging(0.966),-1;NALCN,3_prime_UTR_variant,,ENST00000675594,,c.*105C>A,MODIFIER,,,,-1","Allele":"T","Gene":"ENSG00000102452","Feature":"ENST00000251127","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"903/6971","CDS_position":"668/5217","Protein_position":"223/1738","Amino_acids":"A/D","Codons":"gCt/gAt","Existing_variation":"COSV51915483","TRANSCRIPT_STRAND":-1,"SYMBOL":"NALCN","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:19082","BIOTYPE":"protein_coding","CCDS":"CCDS9498.1","ENSP":"ENSP00000251127","SWISSPROT":"Q8IZF0.168","TREMBL":"A0A024RE05.44","UNIPARC":"UPI000004EBBD","UNIPROT_ISOFORM":"Q8IZF0-1","RefSeq":"NM_001350749.2;NM_052867.4","MANE":"NM_052867.4","APPRIS":"P1","SIFT":"deleterious(0)","PolyPhen":"possibly_damaging(0.857)","EXON":"7/44","DOMAINS":"Pfam:PF00520;PANTHER:PTHR46141;PANTHER:PTHR46141:SF1;Superfamily:SSF81324","SOMATIC":"1","IMPACT":"MODERATE","VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","GENE_PHENO":"1","CONTEXT":"GAATAGCTAAA","tumor_bam_uuid":"2336d541-5877-4000-a778-93f50e88b07d","normal_bam_uuid":"5ebb5783-b0ba-4f85-8620-a4c3aaa3f9e0","case_id":"68b86559-38b2-41f2-b66e-c3c2b628b14d","COSMIC":"COSM6074107;COSM6074108","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"303","Hugo_Symbol":"FPGT-TNNI3K","Entrez_Gene_Id":100526835,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr1","Start_Position":74198310,"End_Position":74198310,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"T","Tumor_Sample_Barcode":"TCGA-44-6777-01A-11D-1855-08","Matched_Norm_Sample_Barcode":"TCGA-44-6777-10A-01D-1855-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"32a0f0f3-3879-4b96-b9bb-eeab87827f6e","Matched_Norm_Sample_UUID":"2caae538-5cfd-474a-8619-f44f80e1ac9f","HGVSc":"c.71C>T","HGVSp":"p.Ser24Leu","HGVSp_Short":"p.S24L","Transcript_ID":"ENST00000557284","Exon_Number":"1/27","t_depth":48,"t_ref_count":36,"t_alt_count":12,"n_depth":65,"all_effects":"FPGT-TNNI3K,missense_variant,p.S11L,ENST00000370895,,c.32C>T,MODERATE,,tolerated_low_confidence(0.24),benign(0.024),1;FPGT,missense_variant,p.S24L,ENST00000370898,NM_003838.4,c.71C>T,MODERATE,YES,tolerated(0.83),benign(0.003),1;FPGT-TNNI3K,missense_variant,p.S24L,ENST00000557284,NM_001112808.2,c.71C>T,MODERATE,YES,tolerated_low_confidence(0.13),benign(0.013),1;FPGT-TNNI3K,missense_variant,p.S11L,ENST00000370899,NM_001199327.1,c.32C>T,MODERATE,,tolerated_low_confidence(0.82),benign(0.011),1;FPGT,missense_variant,p.S11L,ENST00000534056,NM_001199328.2,c.32C>T,MODERATE,,tolerated_low_confidence(0.73),benign(0.017),1;FPGT,missense_variant,p.S11L,ENST00000370894,NM_001199329.2,c.32C>T,MODERATE,,tolerated(0.32),benign(0.007),1;FPGT-TNNI3K,missense_variant,p.S11L,ENST00000370893,,c.32C>T,MODERATE,,tolerated_low_confidence(0.46),benign(0.001),1;FPGT,missense_variant,p.S24L,ENST00000467578,,c.71C>T,MODERATE,,tolerated(0.18),benign(0.013),1;FPGT,missense_variant,p.S11L,ENST00000482102,,c.32C>T,MODERATE,,tolerated_low_confidence(0.23),benign(0.03),1;FPGT-TNNI3K,missense_variant,p.S11L,ENST00000534632,,c.32C>T,MODERATE,,tolerated_low_confidence(0.45),benign(0.005),1;LRRIQ3,upstream_gene_variant,,ENST00000354431,NM_001322315.2&NM_001105659.2,,MODIFIER,YES,,,-1;LRRIQ3,upstream_gene_variant,,ENST00000370909,,,MODIFIER,,,,-1;LRRIQ3,upstream_gene_variant,,ENST00000370911,,,MODIFIER,,,,-1;FPGT,upstream_gene_variant,,ENST00000472069,,,MODIFIER,,,,1;FPGT,non_coding_transcript_exon_variant,,ENST00000524915,,n.71C>T,MODIFIER,,,,1;FPGT-TNNI3K,non_coding_transcript_exon_variant,,ENST00000533006,,n.58C>T,MODIFIER,,,,1;FPGT-TNNI3K,missense_variant,p.S11L,ENST00000648585,,c.32C>T,MODERATE,,tolerated(0.21),benign(0.013),1;FPGT,missense_variant,p.S11L,ENST00000529485,,c.32C>T,MODERATE,,tolerated_low_confidence(0.54),benign(0.003),1;LRRIQ3,upstream_gene_variant,,ENST00000415760,,,MODIFIER,,,,-1;LRRIQ3,upstream_gene_variant,,ENST00000463724,,,MODIFIER,,,,-1","Allele":"T","Gene":"ENSG00000259030","Feature":"ENST00000557284","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"76/2855","CDS_position":"71/2850","Protein_position":"24/949","Amino_acids":"S/L","Codons":"tCg/tTg","Existing_variation":"COSV63047521","TRANSCRIPT_STRAND":1,"SYMBOL":"FPGT-TNNI3K","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:42952","BIOTYPE":"protein_coding","CANONICAL":"YES","ENSP":"ENSP00000450895","TREMBL":"V9GXZ4.59","UNIPARC":"UPI0001EECC26","RefSeq":"NM_001112808.2","APPRIS":"P1","SIFT":"tolerated_low_confidence(0.13)","PolyPhen":"benign(0.013)","EXON":"1/27","SOMATIC":"1","IMPACT":"MODERATE","VARIANT_CLASS":"SNV","TSL":2,"PHENO":"1","CONTEXT":"AGTATCGCTGC","tumor_bam_uuid":"2ef2e6d3-56a5-4f61-bc6c-0b80a9e73388","normal_bam_uuid":"0773ed3d-5622-4175-8165-8d128392e53d","case_id":"349e6f38-2c67-4a69-a777-b9173a2a27cf","COSMIC":"COSM6063803","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"485","Hugo_Symbol":"ESR1","Entrez_Gene_Id":2099,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr6","Start_Position":151807918,"End_Position":151807918,"Strand":"+","Variant_Classification":"Silent","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-99-8033-01A-11D-2238-08","Matched_Norm_Sample_Barcode":"TCGA-99-8033-10A-01D-2238-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"72ea55f8-2d6c-4dad-b90b-c3676a683a52","Matched_Norm_Sample_UUID":"e32d68f6-c93c-4281-8910-b19ee8adf079","HGVSc":"c.6C>A","HGVSp":"p.Thr2=","HGVSp_Short":"p.T2=","Transcript_ID":"ENST00000206249","Exon_Number":"1/8","t_depth":47,"t_ref_count":41,"t_alt_count":6,"n_depth":59,"all_effects":"ESR1,synonymous_variant,p.T2=,ENST00000440973,NM_001122742.1,c.6C>A,LOW,YES,,,1;ESR1,synonymous_variant,p.T2=,ENST00000443427,NM_001122740.1,c.6C>A,LOW,,,,1;ESR1,synonymous_variant,p.T2=,ENST00000206249,NM_001291230.1&NM_001122741.1&NM_001291241.1&NM_000125.4,c.6C>A,LOW,,,,1;ESR1,synonymous_variant,p.T2=,ENST00000338799,,c.6C>A,LOW,,,,1;ESR1,synonymous_variant,p.T2=,ENST00000456483,,c.6C>A,LOW,,,,1;ESR1,synonymous_variant,p.T2=,ENST00000406599,,c.6C>A,LOW,,,,1;ESR1,synonymous_variant,p.T2=,ENST00000446550,,c.6C>A,LOW,,,,1;ESR1,synonymous_variant,p.T2=,ENST00000404742,,c.6C>A,LOW,,,,1;ESR1,upstream_gene_variant,,ENST00000427531,NM_001328100.2,,MODIFIER,,,,1;ESR1,downstream_gene_variant,,ENST00000473497,,,MODIFIER,,,,1;ESR1,upstream_gene_variant,,ENST00000488573,,,MODIFIER,,,,1","Allele":"A","Gene":"ENSG00000091831","Feature":"ENST00000206249","Feature_type":"Transcript","One_Consequence":"synonymous_variant","Consequence":"synonymous_variant","cDNA_position":"237/6327","CDS_position":"6/1788","Protein_position":"2/595","Amino_acids":"T","Codons":"acC/acA","Existing_variation":"COSV52793322","TRANSCRIPT_STRAND":1,"SYMBOL":"ESR1","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:3467","BIOTYPE":"protein_coding","CCDS":"CCDS5234.1","ENSP":"ENSP00000206249","SWISSPROT":"P03372.271","TREMBL":"G4XH65.73","UNIPARC":"UPI000004A328","UNIPROT_ISOFORM":"P03372-1","RefSeq":"NM_001291230.1;NM_001122741.1;NM_001291241.1;NM_000125.4","MANE":"NM_000125.4","APPRIS":"P1","EXON":"1/8","DOMAINS":"PIRSF:PIRSF500101;PANTHER:PTHR24084;PANTHER:PTHR24084:SF3","SOMATIC":"1","IMPACT":"LOW","VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","GENE_PHENO":"1","CONTEXT":"ATGACCATGAC","tumor_bam_uuid":"ffcf55cd-475e-4cca-a4c7-fd6f56e5d403","normal_bam_uuid":"51d355ed-73fc-4b29-b705-292e6c72d7e1","case_id":"9582b436-145b-4f84-8f7f-8b39b8254cc1","COSMIC":"COSM6172590","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"522","Hugo_Symbol":"OR5B2","Entrez_Gene_Id":390190,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr11","Start_Position":58423224,"End_Position":58423224,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"A","Tumor_Seq_Allele1":"A","Tumor_Seq_Allele2":"G","dbSNP_RS":"novel","Tumor_Sample_Barcode":"TCGA-17-Z049-01A-01W-0746-08","Matched_Norm_Sample_Barcode":"TCGA-17-Z049-11A-01W-0747-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"ac31bcc6-6ccc-43b7-96f2-3ab47050be76","Matched_Norm_Sample_UUID":"19f580ae-ea08-4615-b7ed-f6fdcbb35e4e","HGVSc":"c.38T>C","HGVSp":"p.Leu13Pro","HGVSp_Short":"p.L13P","Transcript_ID":"ENST00000302581","Exon_Number":"1/1","t_depth":442,"t_ref_count":394,"t_alt_count":47,"n_depth":488,"all_effects":"OR5B2,missense_variant,p.L13P,ENST00000641342,,c.38T>C,MODERATE,YES,deleterious_low_confidence(0),possibly_damaging(0.678),-1;OR5B2,missense_variant,p.L13P,ENST00000302581,NM_001005566.2,c.38T>C,MODERATE,,deleterious_low_confidence(0),possibly_damaging(0.678),-1","Allele":"G","Gene":"ENSG00000172365","Feature":"ENST00000302581","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"90/1049","CDS_position":"38/930","Protein_position":"13/309","Amino_acids":"L/P","Codons":"cTa/cCa","TRANSCRIPT_STRAND":-1,"SYMBOL":"OR5B2","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:8323","BIOTYPE":"protein_coding","CCDS":"CCDS31550.1","ENSP":"ENSP00000303076","SWISSPROT":"Q96R09.146","UNIPARC":"UPI000004B227","RefSeq":"NM_001005566.2","APPRIS":"P1","SIFT":"deleterious_low_confidence(0)","PolyPhen":"possibly_damaging(0.678)","EXON":"1/1","DOMAINS":"PANTHER:PTHR26452:SF3;PANTHER:PTHR26452;Superfamily:SSF81321","IMPACT":"MODERATE","VARIANT_CLASS":"SNV","CONTEXT":"GTCCTAGAAGA","tumor_bam_uuid":"78b0fd7a-c1d7-4fda-aecd-c52565aca381","normal_bam_uuid":"bbefa7cb-0db1-4d9f-b78e-41e8f8e19d3d","case_id":"d6a08727-affd-4a59-837b-ea71741d7f09","hotspot":"N","RNA_Support":"Unknown","callers":"muse;varscan2"}
{"X1":"229","Hugo_Symbol":"C9","Entrez_Gene_Id":735,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr5","Start_Position":39341198,"End_Position":39341198,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"A","Tumor_Seq_Allele1":"A","Tumor_Seq_Allele2":"G","Tumor_Sample_Barcode":"TCGA-91-6829-01A-21D-1855-08","Matched_Norm_Sample_Barcode":"TCGA-91-6829-11A-01D-1855-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"443f5b2d-832e-45cf-bca5-3f064ea3bc50","Matched_Norm_Sample_UUID":"8dfe00f3-1e3c-4752-b2fe-79e7dc150306","HGVSc":"c.424T>C","HGVSp":"p.Cys142Arg","HGVSp_Short":"p.C142R","Transcript_ID":"ENST00000263408","Exon_Number":"4/11","t_depth":260,"t_ref_count":246,"t_alt_count":13,"n_depth":161,"all_effects":"C9,missense_variant,p.C142R,ENST00000263408,NM_001737.5,c.424T>C,MODERATE,YES,deleterious(0),probably_damaging(0.998),-1;C9,non_coding_transcript_exon_variant,,ENST00000509186,,n.395T>C,MODIFIER,,,,-1;C9,non_coding_transcript_exon_variant,,ENST00000483232,,n.466T>C,MODIFIER,,,,-1;C9,non_coding_transcript_exon_variant,,ENST00000467285,,n.455T>C,MODIFIER,,,,-1","Allele":"G","Gene":"ENSG00000113600","Feature":"ENST00000263408","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"455/2770","CDS_position":"424/1680","Protein_position":"142/559","Amino_acids":"C/R","Codons":"Tgc/Cgc","Existing_variation":"COSV54682084","TRANSCRIPT_STRAND":-1,"SYMBOL":"C9","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:1358","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS3929.1","ENSP":"ENSP00000263408","SWISSPROT":"P02748.204","UNIPARC":"UPI0000001065","RefSeq":"NM_001737.5","MANE":"NM_001737.5","APPRIS":"P1","SIFT":"deleterious(0)","PolyPhen":"probably_damaging(0.998)","EXON":"4/11","DOMAINS":"Gene3D:4.10.400.10;PDB-ENSP_mappings:5fmw.A;PDB-ENSP_mappings:5fmw.B;PDB-ENSP_mappings:5fmw.C;PDB-ENSP_mappings:5fmw.D;PDB-ENSP_mappings:5fmw.E;PDB-ENSP_mappings:5fmw.F;PDB-ENSP_mappings:5fmw.G;PDB-ENSP_mappings:5fmw.H;PDB-ENSP_mappings:5fmw.I;PDB-ENSP_mappings:5fmw.J;PDB-ENSP_mappings:5fmw.K;PDB-ENSP_mappings:5fmw.L;PDB-ENSP_mappings:5fmw.M;PDB-ENSP_mappings:5fmw.N;PDB-ENSP_mappings:5fmw.O;PDB-ENSP_mappings:5fmw.P;PDB-ENSP_mappings:5fmw.Q;PDB-ENSP_mappings:5fmw.R;PDB-ENSP_mappings:5fmw.S;PDB-ENSP_mappings:5fmw.T;PDB-ENSP_mappings:5fmw.U;PDB-ENSP_mappings:5fmw.V;PDB-ENSP_mappings:6dlw.A;PDB-ENSP_mappings:6dlw.B;PDB-ENSP_mappings:6dlw.C;PDB-ENSP_mappings:6dlw.D;PDB-ENSP_mappings:6dlw.E;PDB-ENSP_mappings:6dlw.F;PDB-ENSP_mappings:6dlw.G;PDB-ENSP_mappings:6dlw.H;PDB-ENSP_mappings:6dlw.I;PDB-ENSP_mappings:6dlw.J;PDB-ENSP_mappings:6dlw.K;PDB-ENSP_mappings:6dlw.L;PDB-ENSP_mappings:6dlw.M;PDB-ENSP_mappings:6dlw.N;PDB-ENSP_mappings:6dlw.O;PDB-ENSP_mappings:6dlw.P;PDB-ENSP_mappings:6dlw.Q;PDB-ENSP_mappings:6dlw.R;PDB-ENSP_mappings:6dlw.S;PDB-ENSP_mappings:6dlw.T;PDB-ENSP_mappings:6dlw.U;PDB-ENSP_mappings:6dlw.V;PDB-ENSP_mappings:6h03.G;PDB-ENSP_mappings:6h03.H;PDB-ENSP_mappings:6h03.I;PDB-ENSP_mappings:6h03.J;PDB-ENSP_mappings:6h03.K;PDB-ENSP_mappings:6h03.L;PDB-ENSP_mappings:6h03.M;PDB-ENSP_mappings:6h03.N;PDB-ENSP_mappings:6h03.O;PDB-ENSP_mappings:6h03.P;PDB-ENSP_mappings:6h03.Q;PDB-ENSP_mappings:6h03.R;PDB-ENSP_mappings:6h03.S;PDB-ENSP_mappings:6h03.T;PDB-ENSP_mappings:6h03.U;PDB-ENSP_mappings:6h03.V;PDB-ENSP_mappings:6h03.W;PDB-ENSP_mappings:6h03.X;PDB-ENSP_mappings:6h04.G;PDB-ENSP_mappings:6h04.H;PDB-ENSP_mappings:6h04.I;PDB-ENSP_mappings:6h04.J;PDB-ENSP_mappings:6h04.K;PDB-ENSP_mappings:6h04.L;PDB-ENSP_mappings:6h04.M;PDB-ENSP_mappings:6h04.N;PDB-ENSP_mappings:6h04.O;PDB-ENSP_mappings:6h04.P;PDB-ENSP_mappings:6h04.Q;PDB-ENSP_mappings:6h04.R;PDB-ENSP_mappings:6h04.S;PDB-ENSP_mappings:6h04.T;PDB-ENSP_mappings:6h04.U;PDB-ENSP_mappings:6h04.V;PDB-ENSP_mappings:6h04.W;PDB-ENSP_mappings:6h04.X;PROSITE_profiles:PS51412;PANTHER:PTHR45742;PANTHER:PTHR45742:SF3;Superfamily:SSF57184","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","GENE_PHENO":"1","CONTEXT":"TCTGCAGGGGG","tumor_bam_uuid":"06194457-7576-43b6-87de-7f8ab28cc361","normal_bam_uuid":"f305303e-9760-4f51-afff-a1c8930296d4","case_id":"1427cd18-5ad3-491a-9981-908e31ae49db","COSMIC":"COSM6104176","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2"}
{"X1":"400","Hugo_Symbol":"RELN","Entrez_Gene_Id":5649,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr7","Start_Position":103566241,"End_Position":103566241,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"A","Tumor_Seq_Allele1":"A","Tumor_Seq_Allele2":"G","Tumor_Sample_Barcode":"TCGA-NJ-A4YF-01A-12D-A25L-08","Matched_Norm_Sample_Barcode":"TCGA-NJ-A4YF-10A-01D-A25L-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"3052fdbb-2e49-4d68-91b9-993bd2d6d6b1","Matched_Norm_Sample_UUID":"169d6639-f7f7-4c2c-a72f-0add3e667da6","HGVSc":"c.4919T>C","HGVSp":"p.Ile1640Thr","HGVSp_Short":"p.I1640T","Transcript_ID":"ENST00000428762","Exon_Number":"33/65","t_depth":92,"t_ref_count":83,"t_alt_count":8,"n_depth":95,"all_effects":"RELN,missense_variant,p.I1640T,ENST00000428762,NM_005045.4,c.4919T>C,MODERATE,YES,tolerated(0.41),benign(0),-1;RELN,missense_variant,p.I1640T,ENST00000424685,,c.4919T>C,MODERATE,,tolerated(0.42),benign(0.003),-1;RELN,missense_variant,p.I1640T,ENST00000343529,NM_173054.2,c.4919T>C,MODERATE,,tolerated(0.42),benign(0),-1","Allele":"G","Gene":"ENSG00000189056","Feature":"ENST00000428762","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"5221/11708","CDS_position":"4919/10383","Protein_position":"1640/3460","Amino_acids":"I/T","Codons":"aTa/aCa","Existing_variation":"COSV100632057","TRANSCRIPT_STRAND":-1,"SYMBOL":"RELN","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:9957","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS47680.1","ENSP":"ENSP00000392423","SWISSPROT":"P78509.189","UNIPARC":"UPI00001678BC","UNIPROT_ISOFORM":"P78509-1","RefSeq":"NM_005045.4","MANE":"NM_005045.4","APPRIS":"P4","SIFT":"tolerated(0.41)","PolyPhen":"benign(0)","EXON":"33/65","DOMAINS":"Gene3D:2.60.120.260;PANTHER:PTHR11841;CDD:cd10040","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":5,"PHENO":"1","GENE_PHENO":"1","CONTEXT":"TGAATATCAGA","tumor_bam_uuid":"c3eb33f9-fc1e-4ae3-81bb-eac9a5d8b914","normal_bam_uuid":"5cdf52ba-a71b-480f-ad60-8420211fadd6","case_id":"595fc3ad-f603-421b-b130-52f1f617050b","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2"}
{"X1":"137","Hugo_Symbol":"EVX2","Entrez_Gene_Id":344191,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr2","Start_Position":176082346,"End_Position":176082346,"Strand":"+","Variant_Classification":"Silent","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"T","dbSNP_RS":"rs923392475","Tumor_Sample_Barcode":"TCGA-44-7659-01A-11D-2063-08","Matched_Norm_Sample_Barcode":"TCGA-44-7659-10A-01D-2063-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"4daa1421-462e-467b-bd12-1998736406ae","Matched_Norm_Sample_UUID":"d522702c-a21c-467b-b77c-6ea8717c194e","HGVSc":"c.531G>A","HGVSp":"p.Ala177=","HGVSp_Short":"p.A177=","Transcript_ID":"ENST00000308618","Exon_Number":"2/3","t_depth":12,"t_ref_count":8,"t_alt_count":4,"n_depth":20,"all_effects":"EVX2,synonymous_variant,p.A177=,ENST00000308618,NM_001080458.1,c.531G>A,LOW,YES,,,-1","Allele":"T","Gene":"ENSG00000174279","Feature":"ENST00000308618","Feature_type":"Transcript","One_Consequence":"synonymous_variant","Consequence":"synonymous_variant","cDNA_position":"668/4203","CDS_position":"531/1431","Protein_position":"177/476","Amino_acids":"A","Codons":"gcG/gcA","Existing_variation":"rs923392475;COSV57963375","TRANSCRIPT_STRAND":-1,"SYMBOL":"EVX2","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:3507","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS33333.1","ENSP":"ENSP00000312385","SWISSPROT":"Q03828.149","UNIPARC":"UPI000012A2AF","RefSeq":"NM_001080458.1","APPRIS":"P1","EXON":"2/3","DOMAINS":"Low_complexity_(Seg):seg;Gene3D:1.10.10.60;Superfamily:SSF46689;PANTHER:PTHR46294;PANTHER:PTHR46294:SF1","gnomAD_AF":"4.755e-06","gnomAD_AFR_AF":"0","gnomAD_AMR_AF":"0","gnomAD_ASJ_AF":"0","gnomAD_EAS_AF":"0","gnomAD_FIN_AF":"0","gnomAD_NFE_AF":"1.081e-05","gnomAD_OTH_AF":"0","gnomAD_SAS_AF":"0","MAX_AF":"1.081e-05","MAX_AF_POPS":"gnomAD_NFE","SOMATIC":"0;1","IMPACT":"LOW","PICK":1,"VARIANT_CLASS":"SNV","TSL":5,"PHENO":"0;1","CONTEXT":"CCCAGCGCCGC","tumor_bam_uuid":"9a6f37a8-fa1c-4226-9dd0-b45c4859a40e","normal_bam_uuid":"1dc5f20b-c852-4091-a7c5-dee3a58c146d","case_id":"b86b1616-20a2-4300-8daa-03dcc9938215","COSMIC":"COSM6155487","hotspot":"N","RNA_Support":"Unknown","callers":"mutect2;varscan2"}
{"X1":"369","Hugo_Symbol":"PSG3","Entrez_Gene_Id":5671,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr19","Start_Position":42732818,"End_Position":42732818,"Strand":"+","Variant_Classification":"Silent","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"T","dbSNP_RS":"rs376185249","Tumor_Sample_Barcode":"TCGA-55-8092-01A-11D-2238-08","Matched_Norm_Sample_Barcode":"TCGA-55-8092-10A-01D-2238-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"0e9d858d-0828-4723-a680-d42bc955a299","Matched_Norm_Sample_UUID":"ef1c28ac-9374-4a33-b898-e9305aa26b0a","HGVSc":"c.675C>A","HGVSp":"p.Ala225=","HGVSp_Short":"p.A225=","Transcript_ID":"ENST00000327495","Exon_Number":"3/7","t_depth":846,"t_ref_count":748,"t_alt_count":97,"n_depth":637,"all_effects":"PSG3,synonymous_variant,p.A225=,ENST00000327495,NM_021016.4,c.675C>A,LOW,,,,-1;PSG3,synonymous_variant,p.A225=,ENST00000595140,,c.675C>A,LOW,YES,,,-1;PSG3,synonymous_variant,p.A225=,ENST00000614582,,c.675C>A,LOW,,,,-1;PSG3,downstream_gene_variant,,ENST00000490592,,,MODIFIER,,,,-1;PSG3,3_prime_UTR_variant,,ENST00000594378,,c.*526C>A,MODIFIER,,,,-1;PSG3,non_coding_transcript_exon_variant,,ENST00000597009,,n.765C>A,MODIFIER,,,,-1","Allele":"T","Gene":"ENSG00000221826","Feature":"ENST00000327495","Feature_type":"Transcript","One_Consequence":"synonymous_variant","Consequence":"synonymous_variant","cDNA_position":"772/1873","CDS_position":"675/1287","Protein_position":"225/428","Amino_acids":"A","Codons":"gcC/gcA","Existing_variation":"rs376185249;COSV100548744","TRANSCRIPT_STRAND":-1,"SYMBOL":"PSG3","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:9520","BIOTYPE":"protein_coding","CCDS":"CCDS12611.1","ENSP":"ENSP00000332215","SWISSPROT":"Q16557.168","UNIPARC":"UPI0000073DC1","RefSeq":"NM_021016.4","MANE":"NM_021016.4","APPRIS":"P4","EXON":"3/7","DOMAINS":"PROSITE_profiles:PS50835;PANTHER:PTHR44427;PANTHER:PTHR44427:SF12;Gene3D:2.60.40.10;SMART:SM00409;Superfamily:SSF48726","gnomAD_AF":"3.979e-06","gnomAD_AFR_AF":"6.159e-05","gnomAD_AMR_AF":"0","gnomAD_ASJ_AF":"0","gnomAD_EAS_AF":"0","gnomAD_FIN_AF":"0","gnomAD_NFE_AF":"0","gnomAD_OTH_AF":"0","gnomAD_SAS_AF":"0","MAX_AF":"6.159e-05","MAX_AF_POPS":"gnomAD_AFR","gnomAD_non_cancer_AF":"4.7310099034803e-05","gnomAD_non_cancer_AFR_AF":"4.86097997054458e-05","gnomAD_non_cancer_AMI_AF":"0","gnomAD_non_cancer_AMR_AF":"6.62339007249102e-05","gnomAD_non_cancer_ASJ_AF":"0","gnomAD_non_cancer_EAS_AF":"0","gnomAD_non_cancer_FIN_AF":"0","gnomAD_non_cancer_MID_AF":"0","gnomAD_non_cancer_NFE_AF":"6.17245968896896e-05","gnomAD_non_cancer_OTH_AF":"0","gnomAD_non_cancer_SAS_AF":"0","gnomAD_non_cancer_MAX_AF_adj":"6.17245968896896e-05","gnomAD_non_cancer_MAX_AF_POPS_adj":"nfe","SOMATIC":"0;1","IMPACT":"LOW","VARIANT_CLASS":"SNV","TSL":1,"PHENO":"0;1","CONTEXT":"CGGCTGGCACT","tumor_bam_uuid":"5077c8d1-d9ff-4b94-b76a-7461aa28066c","normal_bam_uuid":"7e8bc385-336f-45e2-94f8-17b4299fe2d1","case_id":"4b92fce2-3772-40eb-ab34-a27937b58590","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"464","Hugo_Symbol":"COL21A1","Entrez_Gene_Id":81578,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr6","Start_Position":56070776,"End_Position":56070776,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"A","Tumor_Seq_Allele1":"A","Tumor_Seq_Allele2":"C","Tumor_Sample_Barcode":"TCGA-MN-A4N1-01A-11D-A24P-08","Matched_Norm_Sample_Barcode":"TCGA-MN-A4N1-10A-01D-A24P-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"c50ccd27-edbb-48f8-9633-168462507edd","Matched_Norm_Sample_UUID":"8030ca48-260a-4c6b-90b5-ba6602c0f960","HGVSc":"c.1988T>G","HGVSp":"p.Ile663Ser","HGVSp_Short":"p.I663S","Transcript_ID":"ENST00000244728","Exon_Number":"21/30","t_depth":15,"t_ref_count":11,"t_alt_count":4,"n_depth":18,"all_effects":"COL21A1,missense_variant,p.I663S,ENST00000244728,NM_030820.4&NM_001318751.2,c.1988T>G,MODERATE,YES,tolerated(0.62),benign(0.01),-1;COL21A1,missense_variant,p.I660S,ENST00000370819,NM_001318752.2,c.1979T>G,MODERATE,,tolerated(0.61),benign(0.02),-1;COL21A1,missense_variant,p.I662S,ENST00000535941,,c.1985T>G,MODERATE,,tolerated(0.61),benign(0.086),-1;COL21A1,non_coding_transcript_exon_variant,,ENST00000467045,NM_001318754.2&NM_001318753.2,n.341T>G,MODIFIER,,,,-1;COL21A1,downstream_gene_variant,,ENST00000484987,,,MODIFIER,,,,-1;COL21A1,3_prime_UTR_variant,,ENST00000488912,,c.*236T>G,MODIFIER,,,,-1;COL21A1,non_coding_transcript_exon_variant,,ENST00000461489,,n.176T>G,MODIFIER,,,,-1","Allele":"C","Gene":"ENSG00000124749","Feature":"ENST00000244728","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"2220/4173","CDS_position":"1988/2874","Protein_position":"663/957","Amino_acids":"I/S","Codons":"aTt/aGt","Existing_variation":"COSV99779681","TRANSCRIPT_STRAND":-1,"SYMBOL":"COL21A1","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:17025","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS55025.1","ENSP":"ENSP00000244728","SWISSPROT":"Q96P44.159","TREMBL":"A0A158RFW1.21","UNIPARC":"UPI0000071DFE","UNIPROT_ISOFORM":"Q96P44-1","RefSeq":"NM_030820.4;NM_001318751.2","MANE":"NM_030820.4","APPRIS":"P4","SIFT":"tolerated(0.62)","PolyPhen":"benign(0.01)","EXON":"21/30","DOMAINS":"PANTHER:PTHR24020;PANTHER:PTHR24020:SF50","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","CONTEXT":"CTTGAATTCCA","tumor_bam_uuid":"cfe0d785-9d2c-4c44-85a4-649211d645dd","normal_bam_uuid":"8f9391a9-51be-4ace-8ff7-56596b2b06f4","case_id":"75a0bb0b-6528-4fb8-a9e6-254905d21df4","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"171","Hugo_Symbol":"EHBP1","Entrez_Gene_Id":23301,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr2","Start_Position":62874344,"End_Position":62874344,"Strand":"+","Variant_Classification":"Splice_Site","Variant_Type":"SNP","Reference_Allele":"A","Tumor_Seq_Allele1":"A","Tumor_Seq_Allele2":"T","Tumor_Sample_Barcode":"TCGA-86-7713-01A-11D-2063-08","Matched_Norm_Sample_Barcode":"TCGA-86-7713-10A-01D-2063-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"1416b4c9-f535-4611-b4b9-85fbd0f7b0a4","Matched_Norm_Sample_UUID":"4929c3d1-f4da-4766-9d13-85b5c7babf4c","HGVSc":"c.1104-2A>T","HGVSp_Short":"p.X368_splice","Transcript_ID":"ENST00000263991","t_depth":59,"t_ref_count":35,"t_alt_count":24,"n_depth":86,"all_effects":"EHBP1,splice_acceptor_variant,p.X368_splice,ENST00000263991,NM_001354212.1&NM_001354213.1&NM_001354215.1&NM_001354214.1&NM_015252.5&NM_001354221.2&NM_001354216.2&NM_001354217.1,c.1104-2A>T,HIGH,YES,,,1;EHBP1,splice_acceptor_variant,p.X333_splice,ENST00000405015,NM_001142615.3,c.999-2A>T,HIGH,,,,1;EHBP1,splice_acceptor_variant,p.X333_splice,ENST00000405289,NM_001142614.2,c.999-2A>T,HIGH,,,,1;EHBP1,splice_acceptor_variant,p.X333_splice,ENST00000431489,NM_001354218.1&NM_001354220.1&NM_001142616.3&NM_001354219.2&NM_001354222.2,c.999-2A>T,HIGH,,,,1;EHBP1,splice_acceptor_variant,,ENST00000462441,,n.60-2A>T,HIGH,,,,1","Allele":"T","Gene":"ENSG00000115504","Feature":"ENST00000263991","Feature_type":"Transcript","One_Consequence":"splice_acceptor_variant","Consequence":"splice_acceptor_variant","Existing_variation":"COSV99861805","TRANSCRIPT_STRAND":1,"SYMBOL":"EHBP1","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:29144","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS1872.1","ENSP":"ENSP00000263991","SWISSPROT":"Q8NDI1.144","UNIPARC":"UPI000013D49A","UNIPROT_ISOFORM":"Q8NDI1-1","RefSeq":"NM_001354212.1;NM_001354213.1;NM_001354215.1;NM_001354214.1;NM_015252.5;NM_001354221.2;NM_001354216.2;NM_001354217.1","APPRIS":"P4","INTRON":"10/24","SOMATIC":"1","IMPACT":"HIGH","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","GENE_PHENO":"1","CONTEXT":"CACTTAGATCA","tumor_bam_uuid":"bd233b3e-6a9c-4ee7-9831-9cdc23f1acc1","normal_bam_uuid":"002901f2-82b7-4839-9b6b-9e2eaa849949","case_id":"cc68632c-b1e3-491b-b562-9468e2d1c101","GDC_FILTER":"NonExonic","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"333","Hugo_Symbol":"DEFB124","Entrez_Gene_Id":245937,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr20","Start_Position":31465614,"End_Position":31465614,"Strand":"+","Variant_Classification":"Silent","Variant_Type":"SNP","Reference_Allele":"A","Tumor_Seq_Allele1":"A","Tumor_Seq_Allele2":"C","Tumor_Sample_Barcode":"TCGA-93-A4JO-01A-21D-A24P-08","Matched_Norm_Sample_Barcode":"TCGA-93-A4JO-10A-01D-A24P-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"19b75c03-0e58-4f28-a280-a4829ee6f46f","Matched_Norm_Sample_UUID":"344d569c-d8cc-40ae-b10e-18ef034ff5b4","HGVSc":"c.108T>G","HGVSp":"p.Thr36=","HGVSp_Short":"p.T36=","Transcript_ID":"ENST00000317676","Exon_Number":"2/2","t_depth":113,"t_ref_count":92,"t_alt_count":21,"n_depth":94,"all_effects":"DEFB124,synonymous_variant,p.T36=,ENST00000317676,NM_001037500.1,c.108T>G,LOW,YES,,,-1","Allele":"C","Gene":"ENSG00000180383","Feature":"ENST00000317676","Feature_type":"Transcript","One_Consequence":"synonymous_variant","Consequence":"synonymous_variant","cDNA_position":"108/216","CDS_position":"108/216","Protein_position":"36/71","Amino_acids":"T","Codons":"acT/acG","Existing_variation":"COSV58343742","TRANSCRIPT_STRAND":-1,"SYMBOL":"DEFB124","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:18104","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS33457.1","ENSP":"ENSP00000326309","SWISSPROT":"Q8NES8.104","UNIPARC":"UPI00005E4A77","RefSeq":"NM_001037500.1","APPRIS":"P1","EXON":"2/2","DOMAINS":"PANTHER:PTHR47897;Pfam:PF13841","SOMATIC":"1","IMPACT":"LOW","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","CONTEXT":"CAGTAAGTTTG","tumor_bam_uuid":"c1e6b3ea-e66c-4580-b136-c4ea9c0eaadd","normal_bam_uuid":"bbacf54c-8216-4efa-9bef-46bbd4160247","case_id":"3daebe75-c6df-478e-8a4c-11186fd5ead9","COSMIC":"COSM4097388","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"302","Hugo_Symbol":"ALDH16A1","Entrez_Gene_Id":126133,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr19","Start_Position":49461693,"End_Position":49461693,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"T","dbSNP_RS":"rs764960127","Tumor_Sample_Barcode":"TCGA-05-4382-01A-01D-1931-08","Matched_Norm_Sample_Barcode":"TCGA-05-4382-10A-01D-1265-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"43b8f335-bb32-45de-985a-85508048b237","Matched_Norm_Sample_UUID":"20e316a4-d1e4-44d2-881c-527e600203f0","HGVSc":"c.652G>T","HGVSp":"p.Gly218Cys","HGVSp_Short":"p.G218C","Transcript_ID":"ENST00000293350","Exon_Number":"6/17","t_depth":27,"t_ref_count":22,"t_alt_count":5,"n_depth":15,"all_effects":"ALDH16A1,missense_variant,p.G218C,ENST00000293350,NM_153329.4,c.652G>T,MODERATE,YES,deleterious(0),probably_damaging(1),1;ALDH16A1,missense_variant,p.G218C,ENST00000455361,NM_001145396.2,c.652G>T,MODERATE,,deleterious(0.03),probably_damaging(1),1;ALDH16A1,missense_variant,p.G55C,ENST00000540132,,c.163G>T,MODERATE,,deleterious(0),probably_damaging(1),1;ALDH16A1,downstream_gene_variant,,ENST00000598015,,,MODIFIER,,,,1;ALDH16A1,3_prime_UTR_variant,,ENST00000593417,,c.*110G>T,MODIFIER,,,,1;ALDH16A1,non_coding_transcript_exon_variant,,ENST00000599652,,n.758G>T,MODIFIER,,,,1;AC010619.1,upstream_gene_variant,,ENST00000599536,,,MODIFIER,YES,,,1;ALDH16A1,upstream_gene_variant,,ENST00000600265,,,MODIFIER,,,,1","Allele":"T","Gene":"ENSG00000161618","Feature":"ENST00000293350","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"759/3099","CDS_position":"652/2409","Protein_position":"218/802","Amino_acids":"G/C","Codons":"Ggc/Tgc","Existing_variation":"rs764960127;COSV99512681","TRANSCRIPT_STRAND":1,"SYMBOL":"ALDH16A1","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:28114","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS12766.1","ENSP":"ENSP00000293350","SWISSPROT":"Q8IZ83.146","UNIPARC":"UPI000013E0FF","UNIPROT_ISOFORM":"Q8IZ83-1","RefSeq":"NM_153329.4","MANE":"NM_153329.4","APPRIS":"P1","SIFT":"deleterious(0)","PolyPhen":"probably_damaging(1)","EXON":"6/17","DOMAINS":"Gene3D:3.40.605.10;Pfam:PF00171;PIRSF:PIRSF036490;PANTHER:PTHR11699;PANTHER:PTHR11699:SF98;Superfamily:SSF53720","gnomAD_AF":"8.523e-06","gnomAD_AFR_AF":"7.033e-05","gnomAD_AMR_AF":"0","gnomAD_ASJ_AF":"0","gnomAD_EAS_AF":"0","gnomAD_FIN_AF":"0","gnomAD_NFE_AF":"0","gnomAD_OTH_AF":"0","gnomAD_SAS_AF":"3.388e-05","MAX_AF":"7.033e-05","MAX_AF_POPS":"gnomAD_AFR","SOMATIC":"0;1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"0;1","CONTEXT":"AGCTGGGCCCC","tumor_bam_uuid":"060c15c0-25ca-4464-8aa3-364396b9b34c","normal_bam_uuid":"f0be1c9e-728c-4655-b792-96bfe1cd5344","case_id":"3434b91a-c05f-460f-a078-7b1bb6e7085d","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2"}
{"X1":"127","Hugo_Symbol":"C1QA","Entrez_Gene_Id":712,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr1","Start_Position":22637694,"End_Position":22637694,"Strand":"+","Variant_Classification":"Nonsense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-73-4668-01A-01D-1265-08","Matched_Norm_Sample_Barcode":"TCGA-73-4668-11A-01D-1265-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"0fdcb5e9-ada2-4755-ae02-491037ee9c10","Matched_Norm_Sample_UUID":"b38d41b2-1280-4721-ad18-9e568a2f3827","HGVSc":"c.78C>A","HGVSp":"p.Cys26Ter","HGVSp_Short":"p.C26*","Transcript_ID":"ENST00000374642","Exon_Number":"2/3","t_depth":42,"t_ref_count":26,"t_alt_count":16,"n_depth":58,"all_effects":"C1QA,stop_gained,p.C26*,ENST00000374642,NM_001347465.2&NM_015991.4,c.78C>A,HIGH,YES,,,1;C1QA,stop_gained,p.C26*,ENST00000402322,NM_001347466.1,c.78C>A,HIGH,,,,1;C1QA,stop_gained,p.C26*,ENST00000438241,,c.78C>A,HIGH,,,,1;MIR6127,upstream_gene_variant,,ENST00000614019,,,MODIFIER,YES,,,-1","Allele":"A","Gene":"ENSG00000173372","Feature":"ENST00000374642","Feature_type":"Transcript","One_Consequence":"stop_gained","Consequence":"stop_gained","cDNA_position":"160/1091","CDS_position":"78/738","Protein_position":"26/245","Amino_acids":"C/*","Codons":"tgC/tgA","Existing_variation":"COSV101009965;COSV101009968;COSV101009970","TRANSCRIPT_STRAND":1,"SYMBOL":"C1QA","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:1241","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS226.1","ENSP":"ENSP00000363773","SWISSPROT":"P02745.212","TREMBL":"A0A024RAG6.45","UNIPARC":"UPI00000012E3","RefSeq":"NM_001347465.2;NM_015991.4","MANE":"NM_015991.4","APPRIS":"P1","EXON":"2/3","DOMAINS":"PANTHER:PTHR15427:SF26;PANTHER:PTHR15427","SOMATIC":"1;1;1","IMPACT":"HIGH","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1;1;1","GENE_PHENO":"1","CONTEXT":"TTGTGCCGAGC","tumor_bam_uuid":"06a63ffb-7f62-4f04-9b3f-06e63018ea65","normal_bam_uuid":"ba0eabdc-1ccb-432c-82e7-399be715d06a","case_id":"b2285924-9813-4f46-bb8f-91a0efd8a9b6","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"321","Hugo_Symbol":"VWC2L","Entrez_Gene_Id":402117,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr2","Start_Position":214414338,"End_Position":214414338,"Strand":"+","Variant_Classification":"Silent","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-05-4430-01A-02D-1265-08","Matched_Norm_Sample_Barcode":"TCGA-05-4430-10A-01D-1265-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"23398531-3f4c-45e6-980b-755165c04974","Matched_Norm_Sample_UUID":"00df5c73-c2a7-47b4-8007-e7042ce81305","HGVSc":"c.145C>A","HGVSp":"p.Arg49=","HGVSp_Short":"p.R49=","Transcript_ID":"ENST00000312504","Exon_Number":"2/4","t_depth":37,"t_ref_count":29,"t_alt_count":8,"n_depth":60,"all_effects":"VWC2L,synonymous_variant,p.R49=,ENST00000312504,NM_001080500.4,c.145C>A,LOW,YES,,,1;VWC2L,synonymous_variant,p.R49=,ENST00000427124,NM_001345929.2,c.145C>A,LOW,,,,1;SPAG16,downstream_gene_variant,,ENST00000331683,NM_024532.5,,MODIFIER,YES,,,1;SPAG16,downstream_gene_variant,,ENST00000451561,,,MODIFIER,,,,1;SPAG16,downstream_gene_variant,,ENST00000480494,,,MODIFIER,,,,1;VWC2L,non_coding_transcript_exon_variant,,ENST00000477752,,n.935C>A,MODIFIER,,,,1;SPAG16,downstream_gene_variant,,ENST00000406979,,,MODIFIER,,,,1;AC068051.1,intron_variant,,ENST00000412896,,n.303+21854G>T,MODIFIER,,,,-1;AC068051.1,intron_variant,,ENST00000437883,,n.417+21854G>T,MODIFIER,,,,-1;AC068051.1,intron_variant,,ENST00000661682,,n.275+21854G>T,MODIFIER,YES,,,-1","Allele":"A","Gene":"ENSG00000174453","Feature":"ENST00000312504","Feature_type":"Transcript","One_Consequence":"synonymous_variant","Consequence":"synonymous_variant","cDNA_position":"958/4638","CDS_position":"145/669","Protein_position":"49/222","Amino_acids":"R","Codons":"Cga/Aga","Existing_variation":"COSV56966957;COSV56980994","TRANSCRIPT_STRAND":1,"SYMBOL":"VWC2L","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:37203","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS46509.1","ENSP":"ENSP00000308976","SWISSPROT":"B2RUY7.84","UNIPARC":"UPI00004912C1","UNIPROT_ISOFORM":"B2RUY7-1","RefSeq":"NM_001080500.4","MANE":"NM_001080500.4","APPRIS":"P1","EXON":"2/4","DOMAINS":"PANTHER:PTHR46252;PANTHER:PTHR46252:SF2","SOMATIC":"1;1","IMPACT":"LOW","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1;1","CONTEXT":"ACTATCGAGGG","tumor_bam_uuid":"b76028be-c9e4-4f6b-8288-1ba277328776","normal_bam_uuid":"d0d66ece-88b2-4429-a8d3-65816a5bed06","case_id":"3a23cdb5-2327-45ac-b0b5-d4afe038c757","COSMIC":"COSM6090185","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"163","Hugo_Symbol":"LRP1B","Entrez_Gene_Id":53353,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr2","Start_Position":141055171,"End_Position":141055171,"Strand":"+","Variant_Classification":"Silent","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-50-5946-02A-11D-2107-08","Matched_Norm_Sample_Barcode":"TCGA-50-5946-10A-01D-1753-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"429c318b-20cf-4bb5-96c2-2d521094feb6","Matched_Norm_Sample_UUID":"06a41ce7-1553-4452-9f41-da6262e26409","HGVSc":"c.1497G>T","HGVSp":"p.Arg499=","HGVSp_Short":"p.R499=","Transcript_ID":"ENST00000389484","Exon_Number":"10/91","t_depth":78,"t_ref_count":43,"t_alt_count":35,"n_depth":62,"all_effects":"LRP1B,synonymous_variant,p.R499=,ENST00000389484,NM_018557.3,c.1497G>T,LOW,YES,,,-1;LRP1B,intron_variant,,ENST00000434794,,c.206-72895G>T,MODIFIER,,,,-1","Allele":"A","Gene":"ENSG00000168702","Feature":"ENST00000389484","Feature_type":"Transcript","One_Consequence":"synonymous_variant","Consequence":"synonymous_variant","cDNA_position":"1784/15850","CDS_position":"1497/13800","Protein_position":"499/4599","Amino_acids":"R","Codons":"cgG/cgT","Existing_variation":"COSV67218428;COSV67266573","TRANSCRIPT_STRAND":-1,"SYMBOL":"LRP1B","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:6693","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS2182.1","ENSP":"ENSP00000374135","SWISSPROT":"Q9NZR2.166","UNIPARC":"UPI00001B045B","RefSeq":"NM_018557.3","MANE":"NM_018557.3","APPRIS":"P1","EXON":"10/91","DOMAINS":"PANTHER:PTHR22722:SF6;PANTHER:PTHR22722;Superfamily:SSF57184;SMART:SM00181;Gene3D:2.10.25.10","SOMATIC":"1;1","IMPACT":"LOW","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1;1","GENE_PHENO":"1","CONTEXT":"CAAGTCCGAGT","tumor_bam_uuid":"8afa9bbf-25cb-4eb2-b19a-7d67b7b05baf","normal_bam_uuid":"caceb655-d370-4184-8b15-5271ce0aad44","case_id":"c95957a7-1a1a-4c8d-bb61-7c99b500f224","COSMIC":"COSM6154336","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"109","Hugo_Symbol":"NAALADL2","Entrez_Gene_Id":254827,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr3","Start_Position":175467120,"End_Position":175467120,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"G","dbSNP_RS":"rs778343683","Tumor_Sample_Barcode":"TCGA-49-6743-01A-11D-1855-08","Matched_Norm_Sample_Barcode":"TCGA-49-6743-11A-01D-1855-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"545c9d29-a8e0-4d2d-8552-d27b46f96070","Matched_Norm_Sample_UUID":"d46dc31a-233c-4dcf-9c64-5ae5a4341be7","HGVSc":"c.1469C>G","HGVSp":"p.Thr490Ser","HGVSp_Short":"p.T490S","Transcript_ID":"ENST00000454872","Exon_Number":"8/14","t_depth":104,"t_ref_count":78,"t_alt_count":26,"n_depth":101,"all_effects":"NAALADL2,missense_variant,p.T490S,ENST00000454872,NM_207015.3,c.1469C>G,MODERATE,YES,tolerated(0.06),benign(0.156),1;NAALADL2,non_coding_transcript_exon_variant,,ENST00000473253,,n.1701C>G,MODIFIER,,,,1;NAALADL2,non_coding_transcript_exon_variant,,ENST00000489299,,n.1064C>G,MODIFIER,,,,1;NAALADL2,3_prime_UTR_variant,,ENST00000414826,,c.*465C>G,MODIFIER,,,,1","Allele":"G","Gene":"ENSG00000177694","Feature":"ENST00000454872","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"1543/9807","CDS_position":"1469/2388","Protein_position":"490/795","Amino_acids":"T/S","Codons":"aCt/aGt","Existing_variation":"rs778343683;COSV69152979","TRANSCRIPT_STRAND":1,"SYMBOL":"NAALADL2","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:23219","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS46960.1","ENSP":"ENSP00000404705","SWISSPROT":"Q58DX5.124","UNIPARC":"UPI0000161608","UNIPROT_ISOFORM":"Q58DX5-1","RefSeq":"NM_207015.3","MANE":"NM_207015.3","APPRIS":"P1","SIFT":"tolerated(0.06)","PolyPhen":"benign(0.156)","EXON":"8/14","DOMAINS":"CDD:cd03874;PANTHER:PTHR10404:SF32;PANTHER:PTHR10404;Pfam:PF04389;Gene3D:3.40.630.10;Superfamily:SSF53187","SOMATIC":"0;1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"0;1","CONTEXT":"CCGAACTATTG","tumor_bam_uuid":"c3dd731b-8e7f-4545-be11-5ea2b32d0098","normal_bam_uuid":"a06a28ba-16d5-4537-be93-91961becbe07","case_id":"a391d49f-a822-460b-981c-6fbe1868ee38","COSMIC":"COSM6096903","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"347","Hugo_Symbol":"ANO6","Entrez_Gene_Id":196527,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr12","Start_Position":45416743,"End_Position":45416743,"Strand":"+","Variant_Classification":"Silent","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"T","Tumor_Sample_Barcode":"TCGA-44-2656-01A-02D-A271-08","Matched_Norm_Sample_Barcode":"TCGA-44-2656-10A-01D-0969-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"989eccfd-d0e0-45ca-af4c-7324d450e956","Matched_Norm_Sample_UUID":"03b8420d-480f-48e1-88a7-8ee9917049a6","HGVSc":"c.2056C>T","HGVSp":"p.Leu686=","HGVSp_Short":"p.L686=","Transcript_ID":"ENST00000320560","Exon_Number":"17/20","t_depth":46,"t_ref_count":28,"t_alt_count":18,"n_depth":58,"all_effects":"ANO6,synonymous_variant,p.L686=,ENST00000320560,NM_001025356.3,c.2056C>T,LOW,,,,1;ANO6,synonymous_variant,p.L668=,ENST00000441606,NM_001142678.2,c.2002C>T,LOW,,,,1;ANO6,synonymous_variant,p.L707=,ENST00000423947,NM_001204803.2,c.2119C>T,LOW,YES,,,1;ANO6,synonymous_variant,p.L686=,ENST00000425752,NM_001142679.2,c.2056C>T,LOW,,,,1;ANO6,non_coding_transcript_exon_variant,,ENST00000426898,,n.2472C>T,MODIFIER,,,,1","Allele":"T","Gene":"ENSG00000177119","Feature":"ENST00000320560","Feature_type":"Transcript","One_Consequence":"synonymous_variant","Consequence":"synonymous_variant","cDNA_position":"2283/5998","CDS_position":"2056/2733","Protein_position":"686/910","Amino_acids":"L","Codons":"Ctg/Ttg","Existing_variation":"COSV57657696","TRANSCRIPT_STRAND":1,"SYMBOL":"ANO6","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:25240","BIOTYPE":"protein_coding","CCDS":"CCDS31782.1","ENSP":"ENSP00000320087","SWISSPROT":"Q4KMQ2.138","UNIPARC":"UPI0000229358","UNIPROT_ISOFORM":"Q4KMQ2-1","RefSeq":"NM_001025356.3","MANE":"NM_001025356.3","APPRIS":"P4","EXON":"17/20","DOMAINS":"Pfam:PF04547;PANTHER:PTHR12308;PANTHER:PTHR12308:SF21;Transmembrane_helices:TMhelix","SOMATIC":"1","IMPACT":"LOW","VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","GENE_PHENO":"1","CONTEXT":"TTCCACTGGCC","tumor_bam_uuid":"c9d383fc-9657-4a4e-8939-af266b798094","normal_bam_uuid":"ada4ffdf-3ba5-4ad0-8eb4-634d04b2b9b8","case_id":"42ca54fc-c1ae-41cd-bca1-7fe9810db460","COSMIC":"COSM6072649;COSM6072650;COSM6072651","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"78","Hugo_Symbol":"PXYLP1","Entrez_Gene_Id":92370,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr3","Start_Position":141292771,"End_Position":141292771,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-49-AARN-01A-21D-A410-08","Matched_Norm_Sample_Barcode":"TCGA-49-AARN-11A-11D-A413-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"f97cfbfe-2df9-4e38-8440-10d64a0b9b7e","Matched_Norm_Sample_UUID":"445a9ca2-20a6-43dd-9b90-a5115e46e674","HGVSc":"c.1009G>A","HGVSp":"p.Glu337Lys","HGVSp_Short":"p.E337K","Transcript_ID":"ENST00000286353","Exon_Number":"6/6","t_depth":91,"t_ref_count":84,"t_alt_count":7,"n_depth":94,"all_effects":"PXYLP1,missense_variant,p.E328K,ENST00000508812,,c.982G>A,MODERATE,,tolerated(0.37),benign(0.192),1;PXYLP1,missense_variant,p.E337K,ENST00000286353,NM_001037172.3,c.1009G>A,MODERATE,YES,tolerated(0.21),benign(0.055),1;PXYLP1,missense_variant,p.E337K,ENST00000393010,NM_152282.4,c.1009G>A,MODERATE,,tolerated(0.21),benign(0.055),1;PXYLP1,missense_variant,p.E299K,ENST00000502783,NM_001282728.1,c.895G>A,MODERATE,,tolerated(0.24),benign(0.055),1;PXYLP1,missense_variant,p.E320K,ENST00000504264,,c.958G>A,MODERATE,,tolerated(0.21),benign(0.192),1;PXYLP1,downstream_gene_variant,,ENST00000514263,,,MODIFIER,,,,1;PXYLP1,intron_variant,,ENST00000636601,,c.505+5318G>A,MODIFIER,,,,1;PXYLP1,intron_variant,,ENST00000637579,,c.505+5318G>A,MODIFIER,,,,1;PXYLP1,intron_variant,,ENST00000637751,,c.505+5318G>A,MODIFIER,,,,1;PXYLP1,downstream_gene_variant,,ENST00000514880,,,MODIFIER,,,,1;AC117383.1,intron_variant,,ENST00000507698,,n.167-25163C>T,MODIFIER,YES,,,-1","Allele":"A","Gene":"ENSG00000155893","Feature":"ENST00000286353","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"1149/3302","CDS_position":"1009/1443","Protein_position":"337/480","Amino_acids":"E/K","Codons":"Gag/Aag","Existing_variation":"COSV53893291","TRANSCRIPT_STRAND":1,"SYMBOL":"PXYLP1","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:26303","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS3116.1","ENSP":"ENSP00000286353","SWISSPROT":"Q8TE99.130","UNIPARC":"UPI0000048EC7","UNIPROT_ISOFORM":"Q8TE99-1","RefSeq":"NM_001037172.3","MANE":"NM_001037172.3","APPRIS":"A2","SIFT":"tolerated(0.21)","PolyPhen":"benign(0.055)","EXON":"6/6","DOMAINS":"CDD:cd07061;PANTHER:PTHR11567:SF125;PANTHER:PTHR11567;Pfam:PF00328;Gene3D:3.40.50.1240;Superfamily:SSF53254","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","CONTEXT":"GACGGGAGAAG","tumor_bam_uuid":"ee39d24a-5c08-42a7-bda6-d230d6f98b65","normal_bam_uuid":"42714f71-ef8e-4705-bb3f-516eae5e29d6","case_id":"98ef41fa-3015-445a-bbdc-984361c911f7","COSMIC":"COSM4519405;COSM4519406","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2"}
{"X1":"451","Hugo_Symbol":"BRSK2","Entrez_Gene_Id":9024,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr11","Start_Position":1445892,"End_Position":1445892,"Strand":"+","Variant_Classification":"Frame_Shift_Del","Variant_Type":"DEL","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"-","Tumor_Sample_Barcode":"TCGA-05-4397-01A-01D-1265-08","Matched_Norm_Sample_Barcode":"TCGA-05-4397-10A-01D-1265-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"4b7be121-49af-4a44-95dd-0a487d47228f","Matched_Norm_Sample_UUID":"abaccb0a-5f60-45d6-aea2-6fb33a82b011","HGVSc":"c.1213del","HGVSp":"p.Gln405SerfsTer26","HGVSp_Short":"p.Q405Sfs*26","Transcript_ID":"ENST00000528841","Exon_Number":"12/20","t_depth":80,"t_ref_count":50,"t_alt_count":30,"n_depth":48,"all_effects":"BRSK2,frameshift_variant,p.Q405Sfs*26,ENST00000528841,NM_001256627.2,c.1213del,HIGH,,,,1;BRSK2,frameshift_variant,p.Q405Sfs*26,ENST00000308219,NM_003957.4,c.1213del,HIGH,,,,1;BRSK2,frameshift_variant,p.Q451Sfs*26,ENST00000382179,NM_001256630.1,c.1351del,HIGH,YES,,,1;BRSK2,frameshift_variant,p.Q345Sfs*26,ENST00000528710,NM_001282218.2,c.1033del,HIGH,,,,1;BRSK2,frameshift_variant,p.Q405Sfs*26,ENST00000531197,NM_001256629.2,c.1213del,HIGH,,,,1;BRSK2,frameshift_variant,p.Q405Sfs*48,ENST00000526678,,c.1213del,HIGH,,,,1;BRSK2,downstream_gene_variant,,ENST00000524702,,,MODIFIER,,,,1;BRSK2,downstream_gene_variant,,ENST00000528596,,,MODIFIER,,,,1;BRSK2,upstream_gene_variant,,ENST00000533606,,,MODIFIER,,,,1;BRSK2,upstream_gene_variant,,ENST00000544817,,,MODIFIER,,,,1;BRSK2,frameshift_variant,p.Q405Sfs*26,ENST00000529433,,c.1213del,HIGH,,,,1;BRSK2,3_prime_UTR_variant,,ENST00000529951,,c.*386del,MODIFIER,,,,1;BRSK2,downstream_gene_variant,,ENST00000531078,,,MODIFIER,,,,1","Allele":"-","Gene":"ENSG00000174672","Feature":"ENST00000528841","Feature_type":"Transcript","One_Consequence":"frameshift_variant","Consequence":"frameshift_variant","cDNA_position":"1562/4528","CDS_position":"1211/2211","Protein_position":"404/736","Amino_acids":"A/X","Codons":"gCc/gc","Existing_variation":"COSV57548067","TRANSCRIPT_STRAND":1,"SYMBOL":"BRSK2","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:11405","BIOTYPE":"protein_coding","CCDS":"CCDS58107.1","ENSP":"ENSP00000432000","SWISSPROT":"Q8IWQ3.176","UNIPARC":"UPI00001F9A8E","UNIPROT_ISOFORM":"Q8IWQ3-1","RefSeq":"NM_001256627.2","MANE":"NM_001256627.2","APPRIS":"A2","EXON":"12/20","DOMAINS":"PANTHER:PTHR24346;PANTHER:PTHR24346:SF36;MobiDB_lite:mobidb-lite","SOMATIC":"1","IMPACT":"HIGH","VARIANT_CLASS":"deletion","TSL":1,"HGVS_OFFSET":2,"PHENO":"1","GENE_PHENO":"1","CONTEXT":"AGATGGCCCAGC","tumor_bam_uuid":"539739e4-b59c-49ef-a7a5-3d597dd16ce4","normal_bam_uuid":"27b8d631-9c36-467c-a49a-d278004e906e","case_id":"6dfd47d2-831a-4386-9051-f78199a16bb5","hotspot":"N","RNA_Support":"Unknown","callers":"mutect2;pindel;varscan2"}
{"X1":"437","Hugo_Symbol":"HR","Entrez_Gene_Id":55806,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr8","Start_Position":22119222,"End_Position":22119222,"Strand":"+","Variant_Classification":"Silent","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"G","dbSNP_RS":"rs1450165382","Tumor_Sample_Barcode":"TCGA-44-4112-01A-31D-A27T-08","Matched_Norm_Sample_Barcode":"TCGA-44-4112-10A-01D-1458-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"b7df4a5e-f4f1-4ffa-b864-5d711f24a29c","Matched_Norm_Sample_UUID":"b31338fd-60d8-48c2-ab4d-cb5064995245","HGVSc":"c.3039G>C","HGVSp":"p.Leu1013=","HGVSp_Short":"p.L1013=","Transcript_ID":"ENST00000381418","Exon_Number":"15/19","t_depth":46,"t_ref_count":37,"t_alt_count":9,"n_depth":82,"all_effects":"HR,synonymous_variant,p.L1013=,ENST00000381418,NM_005144.5,c.3039G>C,LOW,YES,,,-1;HR,synonymous_variant,p.L1013=,ENST00000312841,NM_018411.4,c.3039G>C,LOW,,,,-1;HR,non_coding_transcript_exon_variant,,ENST00000522039,,n.171G>C,MODIFIER,,,,-1;HR,downstream_gene_variant,,ENST00000517699,,,MODIFIER,,,,-1;HR,downstream_gene_variant,,ENST00000518461,,,MODIFIER,,,,-1;HR,upstream_gene_variant,,ENST00000522016,,,MODIFIER,,,,-1","Allele":"G","Gene":"ENSG00000168453","Feature":"ENST00000381418","Feature_type":"Transcript","One_Consequence":"synonymous_variant","Consequence":"synonymous_variant","cDNA_position":"3662/5474","CDS_position":"3039/3570","Protein_position":"1013/1189","Amino_acids":"L","Codons":"ctG/ctC","Existing_variation":"rs1450165382;COSV57190462","TRANSCRIPT_STRAND":-1,"SYMBOL":"HR","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:5172","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS6022.1","ENSP":"ENSP00000370826","SWISSPROT":"O43593.168","UNIPARC":"UPI000013EB0B","UNIPROT_ISOFORM":"O43593-1","RefSeq":"NM_005144.5","MANE":"NM_005144.5","APPRIS":"P1","EXON":"15/19","DOMAINS":"Gene3D:2.60.120.650;PROSITE_profiles:PS51184;PANTHER:PTHR12549;PANTHER:PTHR12549:SF4;SMART:SM00558;Superfamily:SSF51197","SOMATIC":"0;1","IMPACT":"LOW","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"0;1","GENE_PHENO":"1","CONTEXT":"CTGACCAGGTC","tumor_bam_uuid":"06dc14f7-3bed-465c-8b9d-3f458b477ad9","normal_bam_uuid":"5ebb5783-b0ba-4f85-8620-a4c3aaa3f9e0","case_id":"68b86559-38b2-41f2-b66e-c3c2b628b14d","COSMIC":"COSM6112792","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"37","Hugo_Symbol":"PEG3","Entrez_Gene_Id":5178,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr19","Start_Position":56813968,"End_Position":56813968,"Strand":"+","Variant_Classification":"Nonsense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-50-6594-01A-11D-1753-08","Matched_Norm_Sample_Barcode":"TCGA-50-6594-11A-01D-1753-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6","Matched_Norm_Sample_UUID":"c5ddac52-34fa-46d8-898e-ff47aa9a9932","HGVSc":"c.4474G>T","HGVSp":"p.Glu1492Ter","HGVSp_Short":"p.E1492*","Transcript_ID":"ENST00000326441","Exon_Number":"10/10","t_depth":89,"t_ref_count":32,"t_alt_count":57,"n_depth":134,"all_effects":"PEG3,stop_gained,p.E1492*,ENST00000326441,NM_001369717.1&NM_001146184.2&NM_006210.3&NM_001369718.1,c.4474G>T,HIGH,YES,,,-1;PEG3,stop_gained,p.E1368*,ENST00000649233,NM_001369720.1&NM_001369730.1&NM_001369731.1&NM_001369724.1,c.4102G>T,HIGH,,,,-1;PEG3,stop_gained,p.E1368*,ENST00000649876,NM_001369728.1,c.4102G>T,HIGH,,,,-1;PEG3,stop_gained,p.E1368*,ENST00000648694,NM_001369739.1&NM_001369727.1&NM_001369729.1,c.4102G>T,HIGH,,,,-1;PEG3,stop_gained,p.E1368*,ENST00000649680,NM_001369722.1&NM_001369732.1,c.4102G>T,HIGH,,,,-1;PEG3,stop_gained,p.E1368*,ENST00000649428,NM_001369733.1,c.4102G>T,HIGH,,,,-1;PEG3,stop_gained,p.E1368*,ENST00000650632,NM_001369726.1,c.4102G>T,HIGH,,,,-1;PEG3,stop_gained,p.E1368*,ENST00000650102,NM_001369723.1,c.4102G>T,HIGH,,,,-1;PEG3,stop_gained,p.E1337*,ENST00000647621,NM_001369737.1&NM_001369735.1&NM_001369736.1&NM_001369734.1&NM_001369738.1,c.4009G>T,HIGH,,,,-1;PEG3,stop_gained,p.E1368*,ENST00000598410,NM_001369725.1&NM_001369721.1&NM_001146187.2,c.4102G>T,HIGH,,,,-1;PEG3,stop_gained,p.E1492*,ENST00000599534,,c.4474G>T,HIGH,,,,-1;PEG3,stop_gained,p.E1492*,ENST00000599577,,c.4474G>T,HIGH,,,,-1;PEG3,stop_gained,p.E1366*,ENST00000593695,NM_001146185.2,c.4096G>T,HIGH,,,,-1;PEG3,3_prime_UTR_variant,,ENST00000649735,,c.*3734G>T,MODIFIER,,,,-1;ZIM2,intron_variant,,ENST00000593711,NM_015363.5&NM_001369774.1&NM_001369772.1&NM_001369773.1,c.397+4632G>T,MODIFIER,,,,-1;ZIM2,intron_variant,,ENST00000599935,NM_001369771.1&NM_001369770.1,c.397+4632G>T,MODIFIER,,,,-1;ZIM2,intron_variant,,ENST00000601070,,c.397+4632G>T,MODIFIER,,,,-1;ZIM2,intron_variant,,ENST00000629319,NM_001146327.1&NM_001146326.2,c.397+4632G>T,MODIFIER,YES,,,-1;PEG3,downstream_gene_variant,,ENST00000600833,NM_001369719.1,,MODIFIER,,,,-1;PEG3,downstream_gene_variant,,ENST00000647852,,,MODIFIER,,,,-1;PEG3,upstream_gene_variant,,ENST00000599565,,,MODIFIER,,,,-1;ZIM2,intron_variant,,ENST00000595671,,c.490+3778G>T,MODIFIER,,,,-1;ZIM2,intron_variant,,ENST00000597281,,c.397+4632G>T,MODIFIER,,,,-1;ZIM2,intron_variant,,ENST00000650111,,c.775+4632G>T,MODIFIER,,,,-1;AC006115.2,intron_variant,,ENST00000650854,,n.861+3740C>A,MODIFIER,,,,1;AC006115.2,intron_variant,,ENST00000652504,,n.844+3740C>A,MODIFIER,,,,1;AC006115.2,downstream_gene_variant,,ENST00000651589,,,MODIFIER,YES,,,1","Allele":"A","Gene":"ENSG00000198300","Feature":"ENST00000326441","Feature_type":"Transcript","One_Consequence":"stop_gained","Consequence":"stop_gained","cDNA_position":"4868/8754","CDS_position":"4474/4767","Protein_position":"1492/1588","Amino_acids":"E/*","Codons":"Gaa/Taa","Existing_variation":"COSV55643360","TRANSCRIPT_STRAND":-1,"SYMBOL":"PEG3","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:8826","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS12948.1","ENSP":"ENSP00000326581","SWISSPROT":"Q9GZU2.161","UNIPARC":"UPI000006D36D","UNIPROT_ISOFORM":"Q9GZU2-1","RefSeq":"NM_001369717.1;NM_001146184.2;NM_006210.3;NM_001369718.1","MANE":"NM_006210.3","APPRIS":"P1","EXON":"10/10","DOMAINS":"PANTHER:PTHR23226;PANTHER:PTHR23226:SF177;Low_complexity_(Seg):seg","SOMATIC":"1","IMPACT":"HIGH","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","CONTEXT":"ACCTTCTTCTG","tumor_bam_uuid":"ea2baeaf-710b-4dec-8786-d3f729a03b64","normal_bam_uuid":"50055a8b-557d-41a7-b885-90fd941e3642","case_id":"8504fd86-a70a-4cba-9ec8-25c9e60ca549","COSMIC":"COSM6086401;COSM6086402","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"390","Hugo_Symbol":"TMEM131L","Entrez_Gene_Id":23240,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr4","Start_Position":153580824,"End_Position":153580824,"Strand":"+","Variant_Classification":"Splice_Site","Variant_Type":"SNP","Reference_Allele":"A","Tumor_Seq_Allele1":"A","Tumor_Seq_Allele2":"T","dbSNP_RS":"rs1389483797","Tumor_Sample_Barcode":"TCGA-L9-A7SV-01A-11D-A397-08","Matched_Norm_Sample_Barcode":"TCGA-L9-A7SV-10A-01D-A39A-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"d78a7316-187d-4fbd-9ea5-5b5d94569b5a","Matched_Norm_Sample_UUID":"a8d3d6c2-487c-4d5c-a93e-49d2b40c5b48","HGVSc":"c.661-2A>T","HGVSp_Short":"p.X221_splice","Transcript_ID":"ENST00000409663","t_depth":23,"t_ref_count":11,"t_alt_count":12,"n_depth":20,"all_effects":"TMEM131L,splice_acceptor_variant,p.X82_splice,ENST00000240487,,c.244-2A>T,HIGH,,,,1;TMEM131L,splice_acceptor_variant,p.X221_splice,ENST00000409663,NM_015196.3,c.661-2A>T,HIGH,,,,1;TMEM131L,splice_acceptor_variant,p.X221_splice,ENST00000409959,NM_001131007.2,c.661-2A>T,HIGH,YES,,,1;TMEM131L,upstream_gene_variant,,ENST00000509565,,,MODIFIER,,,,1","Allele":"T","Gene":"ENSG00000121210","Feature":"ENST00000409663","Feature_type":"Transcript","One_Consequence":"splice_acceptor_variant","Consequence":"splice_acceptor_variant","Existing_variation":"rs1389483797;COSV99548115","TRANSCRIPT_STRAND":1,"SYMBOL":"TMEM131L","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:29146","BIOTYPE":"protein_coding","CCDS":"CCDS3783.2","ENSP":"ENSP00000386574","SWISSPROT":"A2VDJ0.107","UNIPARC":"UPI000170BA66","UNIPROT_ISOFORM":"A2VDJ0-1","RefSeq":"NM_015196.3","APPRIS":"A2","INTRON":"7/34","gnomAD_AF":"0","gnomAD_AFR_AF":"0","gnomAD_AMR_AF":"0","gnomAD_ASJ_AF":"0","gnomAD_EAS_AF":"0","gnomAD_FIN_AF":"0","gnomAD_NFE_AF":"0","gnomAD_OTH_AF":"0","gnomAD_SAS_AF":"0","MAX_AF":"0","MAX_AF_POPS":"gnomAD_AFR;gnomAD_AMR;gnomAD_ASJ;gnomAD_EAS;gnomAD_FIN;gnomAD_NFE;gnomAD_OTH;gnomAD_SAS","SOMATIC":"0;1","IMPACT":"HIGH","VARIANT_CLASS":"SNV","TSL":5,"PHENO":"0;1","CONTEXT":"CTTTTAGGCAG","tumor_bam_uuid":"d3ccde1f-1ad8-4ef0-95f7-fead69c4f111","normal_bam_uuid":"15756a48-affe-40bd-a9ed-b218270439a2","case_id":"54e90433-5218-4d83-848f-f995ecba2a63","GDC_FILTER":"NonExonic","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"442","Hugo_Symbol":"RAP1GDS1","Entrez_Gene_Id":5910,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr4","Start_Position":98416797,"End_Position":98416797,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"T","Tumor_Sample_Barcode":"TCGA-55-8094-01A-11D-2238-08","Matched_Norm_Sample_Barcode":"TCGA-55-8094-10A-01D-2238-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"1e497004-9b23-4e0b-b5e6-2f756f23110f","Matched_Norm_Sample_UUID":"80309912-c94c-440a-a83d-c689400802ab","HGVSc":"c.816G>T","HGVSp":"p.Glu272Asp","HGVSp_Short":"p.E272D","Transcript_ID":"ENST00000408927","Exon_Number":"8/15","t_depth":67,"t_ref_count":41,"t_alt_count":26,"n_depth":97,"all_effects":"RAP1GDS1,missense_variant,p.E272D,ENST00000408927,NM_001100427.2,c.816G>T,MODERATE,,tolerated(0.21),benign(0.025),1;RAP1GDS1,missense_variant,p.E273D,ENST00000453712,NM_021159.5,c.819G>T,MODERATE,,tolerated(0.22),benign(0.019),1;RAP1GDS1,missense_variant,p.E273D,ENST00000339360,NM_001100426.2,c.819G>T,MODERATE,YES,tolerated(0.21),benign(0),1;RAP1GDS1,missense_variant,p.E224D,ENST00000380158,NM_001100428.2,c.672G>T,MODERATE,,tolerated(0.27),benign(0.001),1;RAP1GDS1,missense_variant,p.E223D,ENST00000408900,NM_001100429.2,c.669G>T,MODERATE,,tolerated(0.28),benign(0.001),1;RAP1GDS1,missense_variant,p.E181D,ENST00000264572,NM_001100430.2,c.543G>T,MODERATE,,tolerated(0.2),benign(0.003),1;RAP1GDS1,missense_variant,p.E82D,ENST00000509501,,c.246G>T,MODERATE,,tolerated(0.15),benign(0.003),1","Allele":"T","Gene":"ENSG00000138698","Feature":"ENST00000408927","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"998/3747","CDS_position":"816/1824","Protein_position":"272/607","Amino_acids":"E/D","Codons":"gaG/gaT","Existing_variation":"COSV99216912","TRANSCRIPT_STRAND":1,"SYMBOL":"RAP1GDS1","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:9859","BIOTYPE":"protein_coding","CCDS":"CCDS43253.1","ENSP":"ENSP00000386153","SWISSPROT":"P52306.163","UNIPARC":"UPI000020B1F1","UNIPROT_ISOFORM":"P52306-1","RefSeq":"NM_001100427.2","MANE":"NM_001100427.2","APPRIS":"A1","SIFT":"tolerated(0.21)","PolyPhen":"benign(0.025)","EXON":"8/15","DOMAINS":"PDB-ENSP_mappings:5xgc.A;PDB-ENSP_mappings:5zhx.A;PDB-ENSP_mappings:5zhx.B;PDB-ENSP_mappings:5zhx.C;PDB-ENSP_mappings:5zhx.D;PANTHER:PTHR10957;PANTHER:PTHR10957:SF2;Gene3D:1.25.10.10;Superfamily:SSF48371","SOMATIC":"1","IMPACT":"MODERATE","VARIANT_CLASS":"SNV","TSL":2,"PHENO":"1","GENE_PHENO":"1","CONTEXT":"CTAGAGATTGT","tumor_bam_uuid":"24f03b7f-d76c-478d-a934-468bfd91c570","normal_bam_uuid":"34fcbd79-9ada-49ee-bd24-d0af0c6523a3","case_id":"69584d55-18f7-4786-b3cc-cd528500be44","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"118","Hugo_Symbol":"A2M","Entrez_Gene_Id":2,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr12","Start_Position":9077705,"End_Position":9077705,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"A","Tumor_Seq_Allele1":"A","Tumor_Seq_Allele2":"G","dbSNP_RS":"rs773333847","Tumor_Sample_Barcode":"TCGA-97-7554-01A-11D-2036-08","Matched_Norm_Sample_Barcode":"TCGA-97-7554-10A-01D-2036-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"1279b038-abe8-4ac4-accb-8a566da2b2fc","Matched_Norm_Sample_UUID":"e05893e7-9426-44cc-8f63-c4e6e4daf500","HGVSc":"c.3272T>C","HGVSp":"p.Ile1091Thr","HGVSp_Short":"p.I1091T","Transcript_ID":"ENST00000318602","Exon_Number":"26/36","t_depth":81,"t_ref_count":67,"t_alt_count":14,"n_depth":55,"all_effects":"A2M,missense_variant,p.I1091T,ENST00000318602,NM_001347423.2&NM_001347425.2&NM_000014.6&NM_001347424.2,c.3272T>C,MODERATE,YES,deleterious(0),possibly_damaging(0.906),-1;A2M,intron_variant,,ENST00000543436,,n.452-9893T>C,MODIFIER,,,,-1;A2M,intron_variant,,ENST00000545828,,n.349-4984T>C,MODIFIER,,,,-1;A2M,downstream_gene_variant,,ENST00000542567,,,MODIFIER,,,,-1;A2M,downstream_gene_variant,,ENST00000462568,,,MODIFIER,,,,-1","Allele":"G","Gene":"ENSG00000175899","Feature":"ENST00000318602","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"3342/4610","CDS_position":"3272/4425","Protein_position":"1091/1474","Amino_acids":"I/T","Codons":"aTa/aCa","Existing_variation":"rs773333847;COSV59387953","TRANSCRIPT_STRAND":-1,"SYMBOL":"A2M","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:7","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS44827.1","ENSP":"ENSP00000323929","SWISSPROT":"P01023.223","UNIPARC":"UPI000014038F","RefSeq":"NM_001347423.2;NM_001347425.2;NM_000014.6;NM_001347424.2","MANE":"NM_000014.6","APPRIS":"P1","SIFT":"deleterious(0)","PolyPhen":"possibly_damaging(0.906)","EXON":"26/36","DOMAINS":"PDB-ENSP_mappings:4acq.A;PDB-ENSP_mappings:4acq.B;PDB-ENSP_mappings:4acq.C;PDB-ENSP_mappings:4acq.D;CDD:cd02897;PANTHER:PTHR11412;PANTHER:PTHR11412:SF153;Gene3D:1.50.10.20;Gene3D:2.60.120.1540;Pfam:PF07678;Superfamily:SSF48239","SOMATIC":"0;1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"0;1","GENE_PHENO":"1","CONTEXT":"CCTTTATGGCA","tumor_bam_uuid":"0e9a91dd-dd03-4c4d-8030-244a44637c0e","normal_bam_uuid":"b6fb7f89-043a-4816-957c-d539de0e0353","case_id":"a9644274-13bb-4228-9b4f-14260ccc26eb","COSMIC":"COSM6138284","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"34","Hugo_Symbol":"STAM","Entrez_Gene_Id":8027,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr10","Start_Position":17708820,"End_Position":17708820,"Strand":"+","Variant_Classification":"Silent","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"A","dbSNP_RS":"rs1554829686","Tumor_Sample_Barcode":"TCGA-55-6968-01A-11D-1945-08","Matched_Norm_Sample_Barcode":"TCGA-55-6968-11A-01D-1945-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"0f2b1ec3-597c-4509-aeae-07e57367fd72","Matched_Norm_Sample_UUID":"c591743c-dac6-447b-8931-0bee8f4e1e99","HGVSc":"c.1254G>A","HGVSp":"p.Gly418=","HGVSp_Short":"p.G418=","Transcript_ID":"ENST00000377524","Exon_Number":"13/14","t_depth":114,"t_ref_count":95,"t_alt_count":19,"n_depth":92,"all_effects":"STAM,synonymous_variant,p.G418=,ENST00000377524,NM_001324284.2&NM_001324285.2&NM_001324288.2&NM_003473.4&NM_001324282.2&NM_001324287.2&NM_001324289.2&NM_001324283.2&NM_001324286.2,c.1254G>A,LOW,YES,,,1","Allele":"A","Gene":"ENSG00000136738","Feature":"ENST00000377524","Feature_type":"Transcript","One_Consequence":"synonymous_variant","Consequence":"synonymous_variant","cDNA_position":"1443/3856","CDS_position":"1254/1623","Protein_position":"418/540","Amino_acids":"G","Codons":"ggG/ggA","Existing_variation":"rs1554829686;COSV101098036","TRANSCRIPT_STRAND":1,"SYMBOL":"STAM","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:11357","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS7122.1","ENSP":"ENSP00000366746","SWISSPROT":"Q92783.181","UNIPARC":"UPI000006E278","UNIPROT_ISOFORM":"Q92783-1","RefSeq":"NM_001324284.2;NM_001324285.2;NM_001324288.2;NM_003473.4;NM_001324282.2;NM_001324287.2;NM_001324289.2;NM_001324283.2;NM_001324286.2","MANE":"NM_003473.4","APPRIS":"P1","EXON":"13/14","DOMAINS":"PANTHER:PTHR45929;PANTHER:PTHR45929:SF2","gnomAD_AF":"0","gnomAD_AFR_AF":"0","gnomAD_AMR_AF":"0","gnomAD_ASJ_AF":"0","gnomAD_EAS_AF":"0","gnomAD_FIN_AF":"0","gnomAD_NFE_AF":"0","gnomAD_OTH_AF":"0","gnomAD_SAS_AF":"0","MAX_AF":"0","MAX_AF_POPS":"gnomAD_AFR;gnomAD_AMR;gnomAD_ASJ;gnomAD_EAS;gnomAD_FIN;gnomAD_NFE;gnomAD_OTH;gnomAD_SAS","SOMATIC":"0;1","IMPACT":"LOW","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"0;1","CONTEXT":"GCAGGGAACGC","tumor_bam_uuid":"0f1d9c69-fa1b-4091-ac73-b61b6c4a3e32","normal_bam_uuid":"a862e7b4-570f-4c89-b563-13a8a0ce3b8a","case_id":"83a6ed20-b3cf-48b9-8ed3-a080cd4951fa","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"337","Hugo_Symbol":"JAM3","Entrez_Gene_Id":83700,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr11","Start_Position":134148573,"End_Position":134148573,"Strand":"+","Variant_Classification":"Frame_Shift_Del","Variant_Type":"DEL","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"-","dbSNP_RS":"rs763250381","Tumor_Sample_Barcode":"TCGA-55-8506-01A-11D-2393-08","Matched_Norm_Sample_Barcode":"TCGA-55-8506-10A-01D-2393-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"30c689e3-563d-41f1-b08e-9322653e2eb2","Matched_Norm_Sample_UUID":"1ad5dca0-8616-4d2d-82b7-05098d7844d9","HGVSc":"c.745del","HGVSp":"p.Val249PhefsTer10","HGVSp_Short":"p.V249Ffs*10","Transcript_ID":"ENST00000299106","Exon_Number":"7/9","t_depth":113,"t_ref_count":95,"t_alt_count":18,"n_depth":106,"all_effects":"JAM3,frameshift_variant,p.V249Ffs*10,ENST00000299106,NM_032801.5,c.745del,HIGH,YES,,,1;JAM3,frameshift_variant,p.V198Ffs*10,ENST00000441717,NM_001205329.1,c.592del,HIGH,,,,1;NCAPD3,downstream_gene_variant,,ENST00000534548,NM_001372070.1&NM_001372069.1&NM_001372065.1&NM_001372068.1&NM_015261.3,,MODIFIER,YES,,,-1;JAM3,downstream_gene_variant,,ENST00000534549,,,MODIFIER,,,,1;JAM3,downstream_gene_variant,,ENST00000524969,,,MODIFIER,,,,1;NCAPD3,downstream_gene_variant,,ENST00000526787,,,MODIFIER,,,,-1;JAM3,downstream_gene_variant,,ENST00000532165,,,MODIFIER,,,,1;JAM3,non_coding_transcript_exon_variant,,ENST00000533711,,n.782del,MODIFIER,,,,1;NCAPD3,downstream_gene_variant,,ENST00000525964,,,MODIFIER,,,,-1;JAM3,downstream_gene_variant,,ENST00000531302,,,MODIFIER,,,,1;JAM3,downstream_gene_variant,,ENST00000532252,,,MODIFIER,,,,1;NCAPD3,downstream_gene_variant,,ENST00000534532,,,MODIFIER,,,,-1","Allele":"-","Gene":"ENSG00000166086","Feature":"ENST00000299106","Feature_type":"Transcript","One_Consequence":"frameshift_variant","Consequence":"frameshift_variant","cDNA_position":"751/3765","CDS_position":"739/933","Protein_position":"247/310","Amino_acids":"G/X","Codons":"Ggg/gg","Existing_variation":"rs763250381","TRANSCRIPT_STRAND":1,"SYMBOL":"JAM3","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:15532","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS8494.2","ENSP":"ENSP00000299106","SWISSPROT":"Q9BX67.169","UNIPARC":"UPI0000034063","UNIPROT_ISOFORM":"Q9BX67-1","RefSeq":"NM_032801.5","MANE":"NM_032801.5","APPRIS":"P1","EXON":"7/9","DOMAINS":"PANTHER:PTHR44598;PANTHER:PTHR44598:SF2;Transmembrane_helices:TMhelix;Low_complexity_(Seg):seg","gnomAD_AF":"3.977e-06","gnomAD_AFR_AF":"0","gnomAD_AMR_AF":"0","gnomAD_ASJ_AF":"0","gnomAD_EAS_AF":"5.437e-05","gnomAD_FIN_AF":"0","gnomAD_NFE_AF":"0","gnomAD_OTH_AF":"0","gnomAD_SAS_AF":"0","MAX_AF":"5.437e-05","MAX_AF_POPS":"gnomAD_EAS","gnomAD_non_cancer_AF":"6.77029993312317e-06","gnomAD_non_cancer_AFR_AF":"0","gnomAD_non_cancer_AMI_AF":"0","gnomAD_non_cancer_AMR_AF":"0","gnomAD_non_cancer_ASJ_AF":"0","gnomAD_non_cancer_EAS_AF":"0.000201938993996","gnomAD_non_cancer_FIN_AF":"0","gnomAD_non_cancer_MID_AF":"0","gnomAD_non_cancer_NFE_AF":"0","gnomAD_non_cancer_OTH_AF":"0","gnomAD_non_cancer_SAS_AF":"0","IMPACT":"HIGH","PICK":1,"VARIANT_CLASS":"deletion","TSL":1,"HGVS_OFFSET":6,"GENE_PHENO":"1","CONTEXT":"ATTATTGGGGGG","tumor_bam_uuid":"86d1af8e-0d02-4bab-8fe3-9242e4dbe387","normal_bam_uuid":"aad7c7fc-109b-48b4-9744-719cc29d528f","case_id":"3ed05070-6633-4de5-9f72-090f93aa2e4d","COSMIC":"COSM1352738","hotspot":"N","RNA_Support":"Unknown","callers":"mutect2;pindel;varscan2"}
{"X1":"393","Hugo_Symbol":"CPS1","Entrez_Gene_Id":1373,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr2","Start_Position":210599403,"End_Position":210599403,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-17-Z042-01A-01W-0746-08","Matched_Norm_Sample_Barcode":"TCGA-17-Z042-11A-01W-0746-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"3c303c9d-6cda-490d-a64d-21bc40b064f3","Matched_Norm_Sample_UUID":"5448ca84-dc5f-435d-866b-1d6366803929","HGVSc":"c.1391C>A","HGVSp":"p.Pro464Gln","HGVSp_Short":"p.P464Q","Transcript_ID":"ENST00000233072","Exon_Number":"14/38","t_depth":38,"t_ref_count":28,"t_alt_count":9,"n_depth":57,"all_effects":"CPS1,missense_variant,p.P464Q,ENST00000673630,NM_001369257.1,c.1391C>A,MODERATE,,deleterious(0),probably_damaging(1),1;CPS1,missense_variant,p.P464Q,ENST00000233072,NM_001369256.1&NM_001875.5,c.1391C>A,MODERATE,,deleterious(0),probably_damaging(1),1;CPS1,missense_variant,p.P470Q,ENST00000430249,,c.1409C>A,MODERATE,YES,deleterious(0),probably_damaging(1),1;CPS1,missense_variant,p.P464Q,ENST00000673711,NM_001122633.3,c.1391C>A,MODERATE,,deleterious(0),probably_damaging(1),1;CPS1,missense_variant,p.P464Q,ENST00000673510,,c.1391C>A,MODERATE,,deleterious(0),probably_damaging(1),1;CPS1,missense_variant,p.P13Q,ENST00000451903,,c.38C>A,MODERATE,,deleterious(0),probably_damaging(1),1;CPS1,missense_variant,p.P464Q,ENST00000619804,,c.1391C>A,MODERATE,,deleterious(0),probably_damaging(1),1;CPS1,non_coding_transcript_exon_variant,,ENST00000674074,,n.536C>A,MODIFIER,,,,1;CPS1,upstream_gene_variant,,ENST00000673698,,,MODIFIER,,,,1","Allele":"A","Gene":"ENSG00000021826","Feature":"ENST00000233072","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"1526/5760","CDS_position":"1391/4503","Protein_position":"464/1500","Amino_acids":"P/Q","Codons":"cCa/cAa","Existing_variation":"COSV51826143","TRANSCRIPT_STRAND":1,"SYMBOL":"CPS1","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:2323","BIOTYPE":"protein_coding","CCDS":"CCDS2393.1","ENSP":"ENSP00000233072","SWISSPROT":"P31327.230","TREMBL":"A0A024R454.36","UNIPARC":"UPI000000D7EC","UNIPROT_ISOFORM":"P31327-1","RefSeq":"NM_001369256.1;NM_001875.5","MANE":"NM_001875.5","APPRIS":"P1","SIFT":"deleterious(0)","PolyPhen":"probably_damaging(1)","EXON":"14/38","DOMAINS":"Gene3D:3.40.50.20;PDB-ENSP_mappings:5dot.A;PDB-ENSP_mappings:5dot.B;PDB-ENSP_mappings:5dou.A;PDB-ENSP_mappings:5dou.B;PDB-ENSP_mappings:5dou.C;PDB-ENSP_mappings:5dou.D;PDB-ENSP_mappings:6uel.A;PDB-ENSP_mappings:6uel.B;Prints:PR00098;PANTHER:PTHR11405;PANTHER:PTHR11405:SF38;Superfamily:SSF52440;TIGRFAM:TIGR01369","SOMATIC":"1","IMPACT":"MODERATE","VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","GENE_PHENO":"1","CONTEXT":"GAACCCAAACA","tumor_bam_uuid":"f2a6b651-c69e-43c5-b13d-970b0ca10c8b","normal_bam_uuid":"b5fbc9d1-d9a4-45de-b7e1-87e7b99c7071","case_id":"56027785-fb10-492c-b021-ea9e3a1979db","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"561","Hugo_Symbol":"MAP1B","Entrez_Gene_Id":4131,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr5","Start_Position":72196395,"End_Position":72196395,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"A","dbSNP_RS":"novel","Tumor_Sample_Barcode":"TCGA-17-Z022-01A-01W-0746-08","Matched_Norm_Sample_Barcode":"TCGA-17-Z022-11A-01W-0746-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"7f07e5b3-bf70-4690-84ba-a9eace798a24","Matched_Norm_Sample_UUID":"61862004-a35f-4af5-95c0-ee3de1158131","HGVSc":"c.3040G>A","HGVSp":"p.Glu1014Lys","HGVSp_Short":"p.E1014K","Transcript_ID":"ENST00000296755","Exon_Number":"5/7","t_depth":241,"t_ref_count":194,"t_alt_count":46,"n_depth":585,"all_effects":"MAP1B,missense_variant,p.E1014K,ENST00000296755,NM_005909.5&NM_001324255.2,c.3040G>A,MODERATE,YES,deleterious(0.05),possibly_damaging(0.551),1;MAP1B,downstream_gene_variant,,ENST00000504492,,,MODIFIER,,,,1;MAP1B,downstream_gene_variant,,ENST00000511641,,,MODIFIER,,,,1;MAP1B,downstream_gene_variant,,ENST00000513526,,,MODIFIER,,,,1","Allele":"A","Gene":"ENSG00000131711","Feature":"ENST00000296755","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"3097/11790","CDS_position":"3040/7407","Protein_position":"1014/2468","Amino_acids":"E/K","Codons":"Gaa/Aaa","TRANSCRIPT_STRAND":1,"SYMBOL":"MAP1B","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:6836","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS4012.1","ENSP":"ENSP00000296755","SWISSPROT":"P46821.182","UNIPARC":"UPI000013E382","RefSeq":"NM_005909.5;NM_001324255.2","MANE":"NM_005909.5","APPRIS":"P1","SIFT":"deleterious(0.05)","PolyPhen":"possibly_damaging(0.551)","EXON":"5/7","DOMAINS":"Coiled-coils_(Ncoils):Coil;PANTHER:PTHR13843;PANTHER:PTHR13843:SF5;MobiDB_lite:mobidb-lite;MobiDB_lite:mobidb-lite;Low_complexity_(Seg):seg","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"GENE_PHENO":"1","CONTEXT":"AGGCTGAACAA","tumor_bam_uuid":"1cf92bb6-d15e-4fe2-84d5-b55215b228ad","normal_bam_uuid":"3ae13c21-3d20-4112-adce-46f8c028f0db","case_id":"e44e279b-103e-436e-8988-1139b000bdfd","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"605","Hugo_Symbol":"ESRP1","Entrez_Gene_Id":54845,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr8","Start_Position":94668013,"End_Position":94668013,"Strand":"+","Variant_Classification":"Silent","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"T","dbSNP_RS":"rs1239872052","Tumor_Sample_Barcode":"TCGA-17-Z030-01A-01W-0746-08","Matched_Norm_Sample_Barcode":"TCGA-17-Z030-11A-01W-0746-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"e35e27e8-6cc5-495b-9ae8-89f65d94ebed","Matched_Norm_Sample_UUID":"beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d","HGVSc":"c.996G>T","HGVSp":"p.Gly332=","HGVSp_Short":"p.G332=","Transcript_ID":"ENST00000433389","Exon_Number":"10/16","t_depth":122,"t_ref_count":101,"t_alt_count":20,"n_depth":86,"all_effects":"ESRP1,synonymous_variant,p.G332=,ENST00000433389,NM_017697.4,c.996G>T,LOW,YES,,,1;ESRP1,synonymous_variant,p.G332=,ENST00000358397,NM_001034915.3,c.996G>T,LOW,,,,1;ESRP1,synonymous_variant,p.G332=,ENST00000423620,NM_001122826.2,c.996G>T,LOW,,,,1;ESRP1,synonymous_variant,p.G332=,ENST00000454170,NM_001122827.2,c.996G>T,LOW,,,,1;ESRP1,synonymous_variant,p.G332=,ENST00000646773,NM_001122825.2,c.996G>T,LOW,,,,1;ESRP1,synonymous_variant,p.G198=,ENST00000519505,,c.594G>T,LOW,,,,1;ESRP1,synonymous_variant,p.G191=,ENST00000517610,,c.573G>T,LOW,,,,1;ESRP1,non_coding_transcript_exon_variant,,ENST00000517556,,n.105G>T,MODIFIER,,,,1;ESRP1,downstream_gene_variant,,ENST00000522756,,,MODIFIER,,,,1","Allele":"T","Gene":"ENSG00000104413","Feature":"ENST00000433389","Feature_type":"Transcript","One_Consequence":"synonymous_variant","Consequence":"synonymous_variant","cDNA_position":"1141/3768","CDS_position":"996/2046","Protein_position":"332/681","Amino_acids":"G","Codons":"ggG/ggT","Existing_variation":"rs1239872052;COSV64412829","TRANSCRIPT_STRAND":1,"SYMBOL":"ESRP1","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:25966","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS47897.1","ENSP":"ENSP00000405738","SWISSPROT":"Q6NXG1.138","UNIPARC":"UPI0000210327","UNIPROT_ISOFORM":"Q6NXG1-1","RefSeq":"NM_017697.4","MANE":"NM_017697.4","APPRIS":"P4","EXON":"10/16","DOMAINS":"PDB-ENSP_mappings:2dha.A;PROSITE_profiles:PS50102;CDD:cd12739;PANTHER:PTHR13976:SF37;PANTHER:PTHR13976;Gene3D:3.30.70.330;SMART:SM00360;Superfamily:SSF54928","gnomAD_AF":"4.036e-06","gnomAD_AFR_AF":"0","gnomAD_AMR_AF":"0","gnomAD_ASJ_AF":"0","gnomAD_EAS_AF":"0","gnomAD_FIN_AF":"0","gnomAD_NFE_AF":"8.939e-06","gnomAD_OTH_AF":"0","gnomAD_SAS_AF":"0","MAX_AF":"8.939e-06","MAX_AF_POPS":"gnomAD_NFE","SOMATIC":"0;1","IMPACT":"LOW","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"0;1","GENE_PHENO":"1","CONTEXT":"CGGGGGCTCCC","tumor_bam_uuid":"b0b04f9d-0f75-46ed-bdc6-76d24ce544cd","normal_bam_uuid":"abf42287-f549-4142-a8d2-4aa0635bc819","case_id":"fddc4d29-1ae8-451d-a13e-8ef6492be201","hotspot":"N","RNA_Support":"Unknown","callers":"muse;varscan2"}
{"X1":"294","Hugo_Symbol":"SPARC","Entrez_Gene_Id":6678,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr5","Start_Position":151666500,"End_Position":151666500,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"T","Tumor_Seq_Allele1":"T","Tumor_Seq_Allele2":"C","Tumor_Sample_Barcode":"TCGA-05-4398-01A-01D-1265-08","Matched_Norm_Sample_Barcode":"TCGA-05-4398-10A-01D-1265-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"9e4b2be6-e149-4c22-93e1-512c3c6bbea8","Matched_Norm_Sample_UUID":"27409a77-e75c-421e-9540-b45e9b98c73e","HGVSc":"c.595A>G","HGVSp":"p.Ile199Val","HGVSp_Short":"p.I199V","Transcript_ID":"ENST00000231061","Exon_Number":"8/10","t_depth":34,"t_ref_count":28,"t_alt_count":6,"n_depth":37,"all_effects":"SPARC,missense_variant,p.I199V,ENST00000231061,NM_001309443.2&NM_001309444.2&NM_003118.4,c.595A>G,MODERATE,YES,deleterious(0.01),benign(0.273),-1;SPARC,missense_variant,p.I108V,ENST00000521569,,c.322A>G,MODERATE,,deleterious(0),benign(0.273),-1;SPARC,missense_variant,p.I108V,ENST00000538026,,c.322A>G,MODERATE,,deleterious(0.01),benign(0.273),-1;SPARC,non_coding_transcript_exon_variant,,ENST00000537849,,n.143A>G,MODIFIER,,,,-1;SPARC,non_coding_transcript_exon_variant,,ENST00000520687,,n.198A>G,MODIFIER,,,,-1;SPARC,downstream_gene_variant,,ENST00000524277,,,MODIFIER,,,,-1","Allele":"C","Gene":"ENSG00000113140","Feature":"ENST00000231061","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"659/3451","CDS_position":"595/912","Protein_position":"199/303","Amino_acids":"I/V","Codons":"Atc/Gtc","Existing_variation":"COSV50559615","TRANSCRIPT_STRAND":-1,"SYMBOL":"SPARC","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:11219","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS4318.1","ENSP":"ENSP00000231061","SWISSPROT":"P09486.215","UNIPARC":"UPI0000040638","RefSeq":"NM_001309443.2;NM_001309444.2;NM_003118.4","MANE":"NM_003118.4","APPRIS":"P1","SIFT":"deleterious(0.01)","PolyPhen":"benign(0.273)","EXON":"8/10","DOMAINS":"PDB-ENSP_mappings:1bmo.A;PDB-ENSP_mappings:1bmo.B;PDB-ENSP_mappings:1nub.A;PDB-ENSP_mappings:1nub.B;PDB-ENSP_mappings:1sra.A;PDB-ENSP_mappings:2v53.A;CDD:cd16231;PANTHER:PTHR13866:SF6;PANTHER:PTHR13866;Pfam:PF10591;Gene3D:1.10.238.10;Superfamily:SSF47473","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","GENE_PHENO":"1","CONTEXT":"ATGGATCTTCT","tumor_bam_uuid":"3443fd69-b7e9-4294-9e8c-c80ee3cc822e","normal_bam_uuid":"d0b511d6-e4b8-4202-b537-87031403e6b1","case_id":"31c96e35-5e2f-429c-b12a-7bc5a497a300","COSMIC":"COSM6102768","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"48","Hugo_Symbol":"PTPRN2","Entrez_Gene_Id":5799,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr7","Start_Position":158134017,"End_Position":158134017,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-44-6147-01A-31D-A27T-08","Matched_Norm_Sample_Barcode":"TCGA-44-6147-10A-01D-1753-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"cf56571b-6212-4a93-85d0-9333814fe2c2","Matched_Norm_Sample_UUID":"3ca8208a-ca5b-45e8-968d-9f47b6201fd1","HGVSc":"c.1216C>T","HGVSp":"p.His406Tyr","HGVSp_Short":"p.H406Y","Transcript_ID":"ENST00000389418","Exon_Number":"9/23","t_depth":92,"t_ref_count":84,"t_alt_count":8,"n_depth":54,"all_effects":"PTPRN2,missense_variant,p.H406Y,ENST00000389418,NM_001308268.1&NM_002847.5,c.1216C>T,MODERATE,YES,tolerated(1),benign(0),-1;PTPRN2,missense_variant,p.H406Y,ENST00000389413,NM_130843.4,c.1216C>T,MODERATE,,tolerated(1),benign(0),-1;PTPRN2,missense_variant,p.H368Y,ENST00000409483,NM_001308267.2,c.1102C>T,MODERATE,,tolerated(1),benign(0),-1;PTPRN2,missense_variant,p.H389Y,ENST00000389416,NM_130842.4,c.1165C>T,MODERATE,,tolerated(1),benign(0),-1;PTPRN2,missense_variant,p.H315Y,ENST00000404321,,c.943C>T,MODERATE,,tolerated(0.98),benign(0),-1","Allele":"A","Gene":"ENSG00000155093","Feature":"ENST00000389418","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"1370/4860","CDS_position":"1216/3048","Protein_position":"406/1015","Amino_acids":"H/Y","Codons":"Cac/Tac","Existing_variation":"COSV67061108","TRANSCRIPT_STRAND":-1,"SYMBOL":"PTPRN2","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:9677","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS5947.1","ENSP":"ENSP00000374069","SWISSPROT":"Q92932.181","UNIPARC":"UPI000002E7C7","UNIPROT_ISOFORM":"Q92932-1","RefSeq":"NM_001308268.1;NM_002847.5","MANE":"NM_002847.5","APPRIS":"P4","SIFT":"tolerated(1)","PolyPhen":"benign(0)","EXON":"9/23","DOMAINS":"PANTHER:PTHR46106:SF5;PANTHER:PTHR46106","gnomAD_non_cancer_AF":"6.75922001391882e-06","gnomAD_non_cancer_AFR_AF":"0","gnomAD_non_cancer_AMI_AF":"0","gnomAD_non_cancer_AMR_AF":"6.62339007249102e-05","gnomAD_non_cancer_ASJ_AF":"0","gnomAD_non_cancer_EAS_AF":"0","gnomAD_non_cancer_FIN_AF":"0","gnomAD_non_cancer_MID_AF":"0","gnomAD_non_cancer_NFE_AF":"0","gnomAD_non_cancer_OTH_AF":"0","gnomAD_non_cancer_SAS_AF":"0","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","CONTEXT":"CCCGTGGTCCT","tumor_bam_uuid":"249978de-7748-46b7-8afa-144da2c84e50","normal_bam_uuid":"1de8cf98-e404-43a3-8f75-80eaebeed167","case_id":"889aec8e-14ba-48d9-8fe1-f2416e82b333","COSMIC":"COSM6109421;COSM6109422","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2"}
{"X1":"102","Hugo_Symbol":"OR2V2","Entrez_Gene_Id":285659,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr5","Start_Position":181155495,"End_Position":181155495,"Strand":"+","Variant_Classification":"Silent","Variant_Type":"SNP","Reference_Allele":"T","Tumor_Seq_Allele1":"T","Tumor_Seq_Allele2":"C","dbSNP_RS":"rs778791176","Tumor_Sample_Barcode":"TCGA-17-Z033-01A-01W-0746-08","Matched_Norm_Sample_Barcode":"TCGA-17-Z033-11A-01W-0746-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"639aea7c-5a38-4641-bf0d-90a9ce8e2980","Matched_Norm_Sample_UUID":"27a976e4-0721-4c0a-94e5-f4ffbc460e54","HGVSc":"c.553T>C","HGVSp":"p.Leu185=","HGVSp_Short":"p.L185=","Transcript_ID":"ENST00000641492","Exon_Number":"2/2","t_depth":186,"t_ref_count":168,"t_alt_count":16,"n_depth":169,"all_effects":"OR2V2,synonymous_variant,p.L185=,ENST00000641492,NM_206880.1,c.553T>C,LOW,YES,,,1;OR2V2,synonymous_variant,p.L185=,ENST00000641791,,c.553T>C,LOW,,,,1","Allele":"C","Gene":"ENSG00000182613","Feature":"ENST00000641492","Feature_type":"Transcript","One_Consequence":"synonymous_variant","Consequence":"synonymous_variant","cDNA_position":"987/4777","CDS_position":"553/948","Protein_position":"185/315","Amino_acids":"L","Codons":"Ttg/Ctg","Existing_variation":"rs778791176","TRANSCRIPT_STRAND":1,"SYMBOL":"OR2V2","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:15341","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS4461.1","ENSP":"ENSP00000493207","SWISSPROT":"Q96R30.136","UNIPARC":"UPI0000041C79","RefSeq":"NM_206880.1","APPRIS":"P1","EXON":"2/2","DOMAINS":"Gene3D:1.20.1070.10;Pfam:PF13853;Prints:PR00245;PROSITE_profiles:PS50262;PANTHER:PTHR26453;PANTHER:PTHR26453:SF235;Superfamily:SSF81321;CDD:cd15421","gnomAD_AF":"1.988e-05","gnomAD_AFR_AF":"0","gnomAD_AMR_AF":"0","gnomAD_ASJ_AF":"0","gnomAD_EAS_AF":"0","gnomAD_FIN_AF":"0","gnomAD_NFE_AF":"0","gnomAD_OTH_AF":"0","gnomAD_SAS_AF":"0.0001633","MAX_AF":"0.0001633","MAX_AF_POPS":"gnomAD_SAS","gnomAD_non_cancer_AF":"6.75876981404144e-06","gnomAD_non_cancer_AFR_AF":"0","gnomAD_non_cancer_AMI_AF":"0","gnomAD_non_cancer_AMR_AF":"0","gnomAD_non_cancer_ASJ_AF":"0","gnomAD_non_cancer_EAS_AF":"0","gnomAD_non_cancer_FIN_AF":"0","gnomAD_non_cancer_MID_AF":"0","gnomAD_non_cancer_NFE_AF":"0","gnomAD_non_cancer_OTH_AF":"0","gnomAD_non_cancer_SAS_AF":"0.00020850700093433","IMPACT":"LOW","PICK":1,"VARIANT_CLASS":"SNV","CONTEXT":"TATCCTTGTTG","tumor_bam_uuid":"45b677c8-60dc-4d66-b79b-f64f9a652025","normal_bam_uuid":"15bc0a6e-a474-4204-bf27-9d0d4d6b68b6","case_id":"a16d7bf7-07b7-4320-969c-fc68dd564a92","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2"}
{"X1":"415","Hugo_Symbol":"SPAG16","Entrez_Gene_Id":79582,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr2","Start_Position":213489981,"End_Position":213489981,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"C","Tumor_Sample_Barcode":"TCGA-49-4486-01A-01D-1265-08","Matched_Norm_Sample_Barcode":"TCGA-49-4486-11A-01D-1265-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"3ac132c3-4889-4dc3-8b3d-0ef98065a858","Matched_Norm_Sample_UUID":"ee2aab05-2f1d-406d-834c-f1b011b7b6eb","HGVSc":"c.961G>C","HGVSp":"p.Asp321His","HGVSp_Short":"p.D321H","Transcript_ID":"ENST00000331683","Exon_Number":"10/16","t_depth":94,"t_ref_count":79,"t_alt_count":15,"n_depth":103,"all_effects":"SPAG16,missense_variant,p.D321H,ENST00000331683,NM_024532.5,c.961G>C,MODERATE,YES,deleterious(0.02),benign(0.007),1;SPAG16,missense_variant,p.D7H,ENST00000451561,,c.19G>C,MODERATE,,deleterious(0.02),benign(0.009),1;SPAG16,3_prime_UTR_variant,,ENST00000452556,,c.*527G>C,MODIFIER,,,,1;SPAG16,3_prime_UTR_variant,,ENST00000406979,,c.*962G>C,MODIFIER,,,,1","Allele":"C","Gene":"ENSG00000144451","Feature":"ENST00000331683","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"981/2102","CDS_position":"961/1896","Protein_position":"321/631","Amino_acids":"D/H","Codons":"Gat/Cat","Existing_variation":"COSV59098029;COSV59111493","TRANSCRIPT_STRAND":1,"SYMBOL":"SPAG16","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:23225","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS2396.1","ENSP":"ENSP00000332592","SWISSPROT":"Q8N0X2.158","UNIPARC":"UPI00001AFF12","UNIPROT_ISOFORM":"Q8N0X2-1","RefSeq":"NM_024532.5","MANE":"NM_024532.5","APPRIS":"P1","SIFT":"deleterious(0.02)","PolyPhen":"benign(0.007)","EXON":"10/16","DOMAINS":"PANTHER:PTHR14604;PANTHER:PTHR14604:SF3","SOMATIC":"1;1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1;1","CONTEXT":"CCATAGATATG","tumor_bam_uuid":"f2769823-0294-4a42-bb45-c76fda910c69","normal_bam_uuid":"6a466af6-df94-4116-a16f-a92212ab2bdd","case_id":"61c655ec-52b5-453f-a6cc-b2aba445b027","COSMIC":"COSM6090188","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2"}
{"X1":"13","Hugo_Symbol":"TUBGCP3","Entrez_Gene_Id":10426,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr13","Start_Position":112547683,"End_Position":112547683,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"T","dbSNP_RS":"rs777263605","Tumor_Sample_Barcode":"TCGA-91-6848-01A-11D-1945-08","Matched_Norm_Sample_Barcode":"TCGA-91-6848-11A-01D-1945-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"0e1dd9cd-6906-4526-9252-3cc0d420886e","Matched_Norm_Sample_UUID":"e5ecb940-5256-4a9f-a39e-614729798d8b","HGVSc":"c.1105G>A","HGVSp":"p.Val369Ile","HGVSp_Short":"p.V369I","Transcript_ID":"ENST00000261965","Exon_Number":"10/22","t_depth":48,"t_ref_count":38,"t_alt_count":10,"n_depth":81,"all_effects":"TUBGCP3,missense_variant,p.V369I,ENST00000261965,NM_006322.6&NM_001286277.2,c.1105G>A,MODERATE,YES,tolerated(0.07),benign(0.394),-1;TUBGCP3,missense_variant,p.V369I,ENST00000375669,NM_001286278.2,c.1105G>A,MODERATE,,tolerated(0.07),benign(0.087),-1;TUBGCP3,missense_variant,p.V369I,ENST00000464139,NM_001286279.1,c.1105G>A,MODERATE,,tolerated(0.07),benign(0.331),-1;TUBGCP3,missense_variant,p.V46I,ENST00000611152,,c.136G>A,MODERATE,,deleterious(0.04),benign(0.238),-1;TUBGCP3,upstream_gene_variant,,ENST00000462580,,,MODIFIER,,,,-1;TUBGCP3,missense_variant,p.V369I,ENST00000649778,,c.1105G>A,MODERATE,,tolerated(0.08),possibly_damaging(0.734),-1","Allele":"T","Gene":"ENSG00000126216","Feature":"ENST00000261965","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"1278/3879","CDS_position":"1105/2724","Protein_position":"369/907","Amino_acids":"V/I","Codons":"Gtt/Att","Existing_variation":"rs777263605;COSV56189043","TRANSCRIPT_STRAND":-1,"SYMBOL":"TUBGCP3","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:18598","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS9525.1","ENSP":"ENSP00000261965","SWISSPROT":"Q96CW5.163","UNIPARC":"UPI000000DB88","UNIPROT_ISOFORM":"Q96CW5-1","RefSeq":"NM_006322.6;NM_001286277.2","MANE":"NM_006322.6","APPRIS":"P1","SIFT":"tolerated(0.07)","PolyPhen":"benign(0.394)","EXON":"10/22","DOMAINS":"PDB-ENSP_mappings:6v6b.B;PDB-ENSP_mappings:6v6s.B;PDB-ENSP_mappings:6v6s.D;PDB-ENSP_mappings:6v6s.F;PDB-ENSP_mappings:6v6s.H;PDB-ENSP_mappings:6v6s.T;Pfam:PF17681;PANTHER:PTHR19302;PANTHER:PTHR19302:SF14","gnomAD_AF":"2.089e-05","gnomAD_AFR_AF":"0","gnomAD_AMR_AF":"0","gnomAD_ASJ_AF":"0","gnomAD_EAS_AF":"0","gnomAD_FIN_AF":"0","gnomAD_NFE_AF":"4.537e-05","gnomAD_OTH_AF":"0","gnomAD_SAS_AF":"0","MAX_AF":"4.537e-05","MAX_AF_POPS":"gnomAD_NFE","gnomAD_non_cancer_AF":"1.35170002977247e-05","gnomAD_non_cancer_AFR_AF":"0","gnomAD_non_cancer_AMI_AF":"0","gnomAD_non_cancer_AMR_AF":"0","gnomAD_non_cancer_ASJ_AF":"0","gnomAD_non_cancer_EAS_AF":"0","gnomAD_non_cancer_FIN_AF":"0","gnomAD_non_cancer_MID_AF":"0","gnomAD_non_cancer_NFE_AF":"3.08593989757355e-05","gnomAD_non_cancer_OTH_AF":"0","gnomAD_non_cancer_SAS_AF":"0","gnomAD_non_cancer_MAX_AF_adj":"3.08593989757355e-05","gnomAD_non_cancer_MAX_AF_POPS_adj":"nfe","SOMATIC":"0;1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"0;1","CONTEXT":"CCAAACCAGGA","tumor_bam_uuid":"8607070c-fea6-493b-b90a-c5f040b0863c","normal_bam_uuid":"bb41e5ee-164a-4b96-8249-c37ca1d54d88","case_id":"0232d299-4cdf-4fd7-9a5e-8d13c208b40c","COSMIC":"COSM1513551","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"77","Hugo_Symbol":"AZIN1","Entrez_Gene_Id":51582,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr8","Start_Position":102829336,"End_Position":102829336,"Strand":"+","Variant_Classification":"Nonsense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-MP-A4TA-01A-21D-A24P-08","Matched_Norm_Sample_Barcode":"TCGA-MP-A4TA-10A-01D-A24P-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"453b2461-e5a5-425d-9bdf-be89453081a7","Matched_Norm_Sample_UUID":"f53cff28-bc8a-4fdd-86d6-c1510d052eed","HGVSc":"c.1171G>T","HGVSp":"p.Glu391Ter","HGVSp_Short":"p.E391*","Transcript_ID":"ENST00000337198","Exon_Number":"11/12","t_depth":151,"t_ref_count":123,"t_alt_count":28,"n_depth":126,"all_effects":"AZIN1,stop_gained,p.E391*,ENST00000337198,NM_001363010.1&NM_001363013.1&NM_001301668.2&NM_148174.4,c.1171G>T,HIGH,YES,,,-1;AZIN1,stop_gained,p.E391*,ENST00000347770,NM_001363011.1&NM_015878.5&NM_001363014.1&NM_001363012.1&NM_001363024.1&NM_001363083.1,c.1171G>T,HIGH,,,,-1;AZIN1,downstream_gene_variant,,ENST00000521536,,,MODIFIER,,,,-1;AZIN1,non_coding_transcript_exon_variant,,ENST00000518697,,n.369G>T,MODIFIER,,,,-1;AZIN1,downstream_gene_variant,,ENST00000523071,,,MODIFIER,,,,-1","Allele":"A","Gene":"ENSG00000155096","Feature":"ENST00000337198","Feature_type":"Transcript","One_Consequence":"stop_gained","Consequence":"stop_gained","cDNA_position":"1761/4196","CDS_position":"1171/1347","Protein_position":"391/448","Amino_acids":"E/*","Codons":"Gaa/Taa","Existing_variation":"COSV100457451","TRANSCRIPT_STRAND":-1,"SYMBOL":"AZIN1","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:16432","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS6295.1","ENSP":"ENSP00000337180","SWISSPROT":"O14977.161","TREMBL":"A0A024R9C7.39","UNIPARC":"UPI00000722AD","RefSeq":"NM_001363010.1;NM_001363013.1;NM_001301668.2;NM_148174.4","MANE":"NM_148174.4","APPRIS":"P1","EXON":"11/12","DOMAINS":"PDB-ENSP_mappings:4zgz.A;PDB-ENSP_mappings:4zgz.C;CDD:cd06831;PANTHER:PTHR11482:SF7;PANTHER:PTHR11482;Gene3D:2.40.37.10;Superfamily:SSF50621;Prints:PR01179","SOMATIC":"1","IMPACT":"HIGH","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","CONTEXT":"TGGTTCATGGA","tumor_bam_uuid":"f020659f-320d-49e3-a4c6-2955c52f08d7","normal_bam_uuid":"2817a076-d485-4e5f-b5a9-0a174816b898","case_id":"98ee294a-46ed-4572-bdd4-a932c3498a25","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"228","Hugo_Symbol":"ZNF592","Entrez_Gene_Id":9640,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr15","Start_Position":84782761,"End_Position":84782761,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"T","Tumor_Sample_Barcode":"TCGA-50-5931-01A-11D-1753-08","Matched_Norm_Sample_Barcode":"TCGA-50-5931-11A-01D-1753-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"290847c6-c9d4-4a16-a70f-0488e3718f35","Matched_Norm_Sample_UUID":"d65ae314-41bc-4273-aafb-507f31c1fa0a","HGVSc":"c.86C>T","HGVSp":"p.Ala29Val","HGVSp_Short":"p.A29V","Transcript_ID":"ENST00000299927","Exon_Number":"1/8","t_depth":94,"t_ref_count":66,"t_alt_count":27,"n_depth":110,"all_effects":"ZNF592,missense_variant,p.A29V,ENST00000560079,NM_014630.3,c.86C>T,MODERATE,YES,deleterious(0.02),probably_damaging(0.961),1;ZNF592,missense_variant,p.A29V,ENST00000299927,,c.86C>T,MODERATE,,deleterious(0.02),probably_damaging(0.961),1;ZNF592,missense_variant,p.A29V,ENST00000559607,,c.86C>T,MODERATE,,deleterious(0.01),possibly_damaging(0.852),1","Allele":"T","Gene":"ENSG00000166716","Feature":"ENST00000299927","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"108/7863","CDS_position":"86/3804","Protein_position":"29/1267","Amino_acids":"A/V","Codons":"gCc/gTc","Existing_variation":"COSV55439256","TRANSCRIPT_STRAND":1,"SYMBOL":"ZNF592","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:28986","BIOTYPE":"protein_coding","CCDS":"CCDS32317.1","ENSP":"ENSP00000299927","SWISSPROT":"Q92610.174","UNIPARC":"UPI000013E5FC","APPRIS":"P1","SIFT":"deleterious(0.02)","PolyPhen":"probably_damaging(0.961)","EXON":"1/8","DOMAINS":"PANTHER:PTHR47222;PANTHER:PTHR47222:SF1;MobiDB_lite:mobidb-lite","SOMATIC":"1","IMPACT":"MODERATE","VARIANT_CLASS":"SNV","TSL":2,"PHENO":"1","GENE_PHENO":"1","CONTEXT":"GGAGGCCATCC","tumor_bam_uuid":"21895ba0-4159-4dbb-af6e-adc5813c5214","normal_bam_uuid":"1f330cea-ded1-4e67-9f60-ab42f780093b","case_id":"12ccd581-a921-41bc-bcee-4e9be54532cc","COSMIC":"COSM6078228","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"400","Hugo_Symbol":"PITPNM2","Entrez_Gene_Id":57605,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr12","Start_Position":122991767,"End_Position":122991767,"Strand":"+","Variant_Classification":"Intron","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-NJ-A4YF-01A-12D-A25L-08","Matched_Norm_Sample_Barcode":"TCGA-NJ-A4YF-10A-01D-A25L-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"3052fdbb-2e49-4d68-91b9-993bd2d6d6b1","Matched_Norm_Sample_UUID":"169d6639-f7f7-4c2c-a72f-0add3e667da6","HGVSc":"c.2404+732G>T","Transcript_ID":"ENST00000320201","t_depth":27,"t_ref_count":10,"t_alt_count":17,"n_depth":27,"all_effects":"PITPNM2,missense_variant,p.G846C,ENST00000280562,NM_001300801.1,c.2536G>T,MODERATE,,deleterious(0.01),possibly_damaging(0.73),-1;PITPNM2,intron_variant,,ENST00000320201,NM_020845.2,c.2404+732G>T,MODIFIER,YES,,,-1","Allele":"A","Gene":"ENSG00000090975","Feature":"ENST00000320201","Feature_type":"Transcript","One_Consequence":"intron_variant","Consequence":"intron_variant","Existing_variation":"COSV99758137","TRANSCRIPT_STRAND":-1,"SYMBOL":"PITPNM2","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:21044","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS9242.1","ENSP":"ENSP00000322218","SWISSPROT":"Q9BZ72.133","UNIPARC":"UPI0000070D27","UNIPROT_ISOFORM":"Q9BZ72-1","RefSeq":"NM_020845.2","APPRIS":"P3","INTRON":"15/24","gnomAD_non_cancer_AF":"6.75711999065243e-06","gnomAD_non_cancer_AFR_AF":"0","gnomAD_non_cancer_AMI_AF":"0","gnomAD_non_cancer_AMR_AF":"6.62075981381349e-05","gnomAD_non_cancer_ASJ_AF":"0","gnomAD_non_cancer_EAS_AF":"0","gnomAD_non_cancer_FIN_AF":"0","gnomAD_non_cancer_MID_AF":"0","gnomAD_non_cancer_NFE_AF":"0","gnomAD_non_cancer_OTH_AF":"0","gnomAD_non_cancer_SAS_AF":"0","SOMATIC":"1","IMPACT":"MODIFIER","PICK":1,"VARIANT_CLASS":"SNV","TSL":5,"PHENO":"1","CONTEXT":"ACAGCCCGGGC","tumor_bam_uuid":"c3eb33f9-fc1e-4ae3-81bb-eac9a5d8b914","normal_bam_uuid":"5cdf52ba-a71b-480f-ad60-8420211fadd6","case_id":"595fc3ad-f603-421b-b130-52f1f617050b","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"40","Hugo_Symbol":"SMARCA1","Entrez_Gene_Id":6594,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chrX","Start_Position":129480714,"End_Position":129480714,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"A","dbSNP_RS":"rs1200970940","Tumor_Sample_Barcode":"TCGA-MP-A4TF-01A-11D-A25L-08","Matched_Norm_Sample_Barcode":"TCGA-MP-A4TF-10A-01D-A25L-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"68fb204a-b848-4b8f-8dc7-4428d786d576","Matched_Norm_Sample_UUID":"4af2129d-0e85-497e-af89-40359c958bcf","HGVSc":"c.2429C>T","HGVSp":"p.Thr810Ile","HGVSp_Short":"p.T810I","Transcript_ID":"ENST00000371122","Exon_Number":"19/25","t_depth":49,"t_ref_count":38,"t_alt_count":11,"n_depth":68,"all_effects":"SMARCA1,missense_variant,p.T810I,ENST00000371122,NM_001378263.1&NM_001378262.1&NM_001378261.1&NM_003069.5,c.2429C>T,MODERATE,,tolerated(0.06),possibly_damaging(0.596),-1;SMARCA1,missense_variant,p.T810I,ENST00000371121,NM_001282874.2,c.2429C>T,MODERATE,YES,tolerated(0.08),possibly_damaging(0.596),-1;SMARCA1,missense_variant,p.T798I,ENST00000371123,NM_001282875.2&NM_001378264.1,c.2393C>T,MODERATE,,tolerated(0.08),benign(0.21),-1;SMARCA1,non_coding_transcript_exon_variant,,ENST00000617310,,n.2747C>T,MODIFIER,,,,-1","Allele":"A","Gene":"ENSG00000102038","Feature":"ENST00000371122","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"2559/4099","CDS_position":"2429/3165","Protein_position":"810/1054","Amino_acids":"T/I","Codons":"aCa/aTa","Existing_variation":"rs1200970940;COSV100946727","TRANSCRIPT_STRAND":-1,"SYMBOL":"SMARCA1","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:11097","BIOTYPE":"protein_coding","CCDS":"CCDS14612.1","ENSP":"ENSP00000360163","SWISSPROT":"P28370.207","UNIPARC":"UPI0000161FA6","UNIPROT_ISOFORM":"P28370-1","RefSeq":"NM_001378263.1;NM_001378262.1;NM_001378261.1;NM_003069.5","SIFT":"tolerated(0.06)","PolyPhen":"possibly_damaging(0.596)","EXON":"19/25","DOMAINS":"PANTHER:PTHR10799;PANTHER:PTHR10799:SF819;Pfam:PF09110;Gene3D:1.10.1040.30;Superfamily:SSF101224","gnomAD_AF":"0","gnomAD_AFR_AF":"0","gnomAD_AMR_AF":"0","gnomAD_ASJ_AF":"0","gnomAD_EAS_AF":"0","gnomAD_FIN_AF":"0","gnomAD_NFE_AF":"0","gnomAD_OTH_AF":"0","gnomAD_SAS_AF":"0","MAX_AF":"0","MAX_AF_POPS":"gnomAD_AFR;gnomAD_AMR;gnomAD_ASJ;gnomAD_EAS;gnomAD_FIN;gnomAD_NFE;gnomAD_OTH;gnomAD_SAS","SOMATIC":"0;1","IMPACT":"MODERATE","VARIANT_CLASS":"SNV","TSL":1,"PHENO":"0;1","CONTEXT":"CTATTGTCTTC","tumor_bam_uuid":"88236395-9b1a-483e-a626-d19fec60f2de","normal_bam_uuid":"d60867f7-65f0-48a6-af0e-f24e85cbe533","case_id":"86dac334-f30e-438e-810a-8e45f69dbb7e","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"297","Hugo_Symbol":"NCKAP5L","Entrez_Gene_Id":57701,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr12","Start_Position":49803096,"End_Position":49803096,"Strand":"+","Variant_Classification":"Splice_Site","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-L4-A4E5-01A-11D-A24P-08","Matched_Norm_Sample_Barcode":"TCGA-L4-A4E5-10A-01D-A24P-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"16d0447f-5ca5-4218-b1c7-b833018d1e71","Matched_Norm_Sample_UUID":"f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8","HGVSc":"c.192+1G>T","HGVSp_Short":"p.X64_splice","Transcript_ID":"ENST00000335999","t_depth":73,"t_ref_count":58,"t_alt_count":15,"n_depth":55,"all_effects":"NCKAP5L,splice_donor_variant,p.X64_splice,ENST00000335999,NM_001037806.4&NM_001368048.1,c.192+1G>T,HIGH,YES,,,-1;NCKAP5L,downstream_gene_variant,,ENST00000480927,,,MODIFIER,,,,-1;NCKAP5L,splice_donor_variant,,ENST00000477361,,n.1867+1G>T,HIGH,,,,-1;NCKAP5L,non_coding_transcript_exon_variant,,ENST00000491441,,n.1539G>T,MODIFIER,,,,-1","Allele":"A","Gene":"ENSG00000167566","Feature":"ENST00000335999","Feature_type":"Transcript","One_Consequence":"splice_donor_variant","Consequence":"splice_donor_variant","Existing_variation":"COSV100258673","TRANSCRIPT_STRAND":-1,"SYMBOL":"NCKAP5L","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:29321","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS41781.2","ENSP":"ENSP00000337998","SWISSPROT":"Q9HCH0.121","UNIPARC":"UPI00006C1298","RefSeq":"NM_001037806.4;NM_001368048.1","MANE":"NM_001037806.4","APPRIS":"P1","INTRON":"4/12","SOMATIC":"1","IMPACT":"HIGH","PICK":1,"VARIANT_CLASS":"SNV","TSL":5,"PHENO":"1","CONTEXT":"ACAGACCTCGT","tumor_bam_uuid":"b7929d65-5ce1-483a-8127-3254e264a2a6","normal_bam_uuid":"68f7fc62-ae4b-409d-81a7-6b0b425a7497","case_id":"32a7b827-c3f9-4607-ae63-dae8caa2bc97","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"462","Hugo_Symbol":"ALPP","Entrez_Gene_Id":250,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr2","Start_Position":232380311,"End_Position":232380311,"Strand":"+","Variant_Classification":"Silent","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"A","dbSNP_RS":"rs749165151","Tumor_Sample_Barcode":"TCGA-62-8394-01A-11D-2323-08","Matched_Norm_Sample_Barcode":"TCGA-62-8394-10A-01D-2323-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"5fe53cd5-76dc-491e-aa85-bd85386e1fc5","Matched_Norm_Sample_UUID":"95c5ac14-9da0-40f8-a7d5-dac263b19b66","HGVSc":"c.783G>A","HGVSp":"p.Ala261=","HGVSp_Short":"p.A261=","Transcript_ID":"ENST00000392027","Exon_Number":"6/11","t_depth":364,"t_ref_count":331,"t_alt_count":32,"n_depth":398,"all_effects":"ALPP,synonymous_variant,p.A261=,ENST00000392027,NM_001632.5,c.783G>A,LOW,YES,,,1;ALPP,downstream_gene_variant,,ENST00000474529,,,MODIFIER,,,,1;ALPP,upstream_gene_variant,,ENST00000485563,,,MODIFIER,,,,1;AC068134.1,intron_variant,,ENST00000439072,,n.158-354C>T,MODIFIER,,,,-1;AC068134.1,intron_variant,,ENST00000441266,,n.358-553C>T,MODIFIER,YES,,,-1","Allele":"A","Gene":"ENSG00000163283","Feature":"ENST00000392027","Feature_type":"Transcript","One_Consequence":"synonymous_variant","Consequence":"synonymous_variant","cDNA_position":"835/2754","CDS_position":"783/1608","Protein_position":"261/535","Amino_acids":"A","Codons":"gcG/gcA","Existing_variation":"rs749165151","TRANSCRIPT_STRAND":1,"SYMBOL":"ALPP","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:439","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS2490.1","ENSP":"ENSP00000375881","SWISSPROT":"P05187.216","UNIPARC":"UPI0000131FF9","RefSeq":"NM_001632.5","MANE":"NM_001632.5","APPRIS":"P1","EXON":"6/11","DOMAINS":"PDB-ENSP_mappings:1ew2.A;PDB-ENSP_mappings:1zeb.A;PDB-ENSP_mappings:1zed.A;PDB-ENSP_mappings:1zef.A;PDB-ENSP_mappings:2glq.A;Gene3D:3.40.720.10;PDB-ENSP_mappings:3mk0.A;PDB-ENSP_mappings:3mk1.A;PDB-ENSP_mappings:3mk2.A;Pfam:PF00245;PANTHER:PTHR11596;PANTHER:PTHR11596:SF69;SMART:SM00098;Superfamily:SSF53649;CDD:cd16012","gnomAD_AF":"1.991e-05","gnomAD_AFR_AF":"0","gnomAD_AMR_AF":"0.0001446","gnomAD_ASJ_AF":"0","gnomAD_EAS_AF":"0","gnomAD_FIN_AF":"0","gnomAD_NFE_AF":"0","gnomAD_OTH_AF":"0","gnomAD_SAS_AF":"0","MAX_AF":"0.0001446","MAX_AF_POPS":"gnomAD_AMR","gnomAD_non_cancer_AF":"1.35450000016135e-05","gnomAD_non_cancer_AFR_AF":"4.86926001030952e-05","gnomAD_non_cancer_AMI_AF":"0","gnomAD_non_cancer_AMR_AF":"0","gnomAD_non_cancer_ASJ_AF":"0","gnomAD_non_cancer_EAS_AF":"0","gnomAD_non_cancer_FIN_AF":"0","gnomAD_non_cancer_MID_AF":"0","gnomAD_non_cancer_NFE_AF":"0","gnomAD_non_cancer_OTH_AF":"0","gnomAD_non_cancer_SAS_AF":"0","gnomAD_non_cancer_MAX_AF_adj":"4.86926001030952e-05","gnomAD_non_cancer_MAX_AF_POPS_adj":"afr","IMPACT":"LOW","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"CONTEXT":"CTGGCGAAGCG","tumor_bam_uuid":"05283694-83ee-461a-b9b2-2b89721f4fbc","normal_bam_uuid":"8be63f8c-50c3-4e31-acab-208815a55017","case_id":"742e0e32-25b5-4d41-8bf5-364b571cfd93","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2"}
{"X1":"77","Hugo_Symbol":"CD2","Entrez_Gene_Id":914,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr1","Start_Position":116768676,"End_Position":116768676,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-MP-A4TA-01A-21D-A24P-08","Matched_Norm_Sample_Barcode":"TCGA-MP-A4TA-10A-01D-A24P-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"453b2461-e5a5-425d-9bdf-be89453081a7","Matched_Norm_Sample_UUID":"f53cff28-bc8a-4fdd-86d6-c1510d052eed","HGVSc":"c.949G>A","HGVSp":"p.Gly317Ser","HGVSp_Short":"p.G317S","Transcript_ID":"ENST00000369478","Exon_Number":"5/5","t_depth":186,"t_ref_count":170,"t_alt_count":16,"n_depth":146,"all_effects":"CD2,missense_variant,p.G317S,ENST00000369478,NM_001328609.2&NM_001767.5,c.949G>A,MODERATE,YES,deleterious(0.04),possibly_damaging(0.611),1","Allele":"A","Gene":"ENSG00000116824","Feature":"ENST00000369478","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"1012/1565","CDS_position":"949/1056","Protein_position":"317/351","Amino_acids":"G/S","Codons":"Ggc/Agc","Existing_variation":"COSV101040321","TRANSCRIPT_STRAND":1,"SYMBOL":"CD2","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:1639","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS889.1","ENSP":"ENSP00000358490","SWISSPROT":"P06729.217","TREMBL":"Q53F96.130","UNIPARC":"UPI0000062209","RefSeq":"NM_001328609.2;NM_001767.5","MANE":"NM_001767.5","APPRIS":"P1","SIFT":"deleterious(0.04)","PolyPhen":"possibly_damaging(0.611)","EXON":"5/5","DOMAINS":"MobiDB_lite:mobidb-lite;PANTHER:PTHR12080:SF54;PANTHER:PTHR12080","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","CONTEXT":"CGTCGGGCACA","tumor_bam_uuid":"f020659f-320d-49e3-a4c6-2955c52f08d7","normal_bam_uuid":"2817a076-d485-4e5f-b5a9-0a174816b898","case_id":"98ee294a-46ed-4572-bdd4-a932c3498a25","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2"}
{"X1":"8","Hugo_Symbol":"OSBPL6","Entrez_Gene_Id":114880,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr2","Start_Position":178344324,"End_Position":178344324,"Strand":"+","Variant_Classification":"Intron","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-67-3771-01A-01D-1040-01","Matched_Norm_Sample_Barcode":"TCGA-67-3771-10A-01D-1040-01","Mutation_Status":"Somatic","Tumor_Sample_UUID":"a715d783-38f1-4f6d-991b-983fb907cc9f","Matched_Norm_Sample_UUID":"24f1a1ea-733d-45b3-a51b-073807143f78","HGVSc":"c.987+4560G>A","Transcript_ID":"ENST00000190611","t_depth":88,"t_ref_count":58,"t_alt_count":30,"n_depth":164,"all_effects":"OSBPL6,synonymous_variant,p.R342=,ENST00000392505,NM_001201480.2,c.1026G>A,LOW,YES,,,1;OSBPL6,synonymous_variant,p.R321=,ENST00000315022,NM_145739.3,c.963G>A,LOW,,,,1;OSBPL6,intron_variant,,ENST00000190611,NM_032523.4,c.987+4560G>A,MODIFIER,,,,1;OSBPL6,intron_variant,,ENST00000357080,,c.895-4900G>A,MODIFIER,,,,1;OSBPL6,intron_variant,,ENST00000359685,NM_001201482.1,c.987+4560G>A,MODIFIER,,,,1;OSBPL6,intron_variant,,ENST00000409045,NM_001201481.2,c.895-4900G>A,MODIFIER,,,,1;OSBPL6,intron_variant,,ENST00000409631,,c.987+4560G>A,MODIFIER,,,,1","Allele":"A","Gene":"ENSG00000079156","Feature":"ENST00000190611","Feature_type":"Transcript","One_Consequence":"intron_variant","Consequence":"intron_variant","Existing_variation":"COSV99508059","TRANSCRIPT_STRAND":1,"SYMBOL":"OSBPL6","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:16388","BIOTYPE":"protein_coding","CCDS":"CCDS2277.1","ENSP":"ENSP00000190611","SWISSPROT":"Q9BZF3.161","UNIPARC":"UPI0000130E97","UNIPROT_ISOFORM":"Q9BZF3-1","RefSeq":"NM_032523.4","MANE":"NM_032523.4","APPRIS":"A1","INTRON":"11/24","SOMATIC":"1","IMPACT":"MODIFIER","VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","CONTEXT":"ACTCGGCGCCG","tumor_bam_uuid":"b6949627-30cb-4064-b3a6-98864606d2dc","normal_bam_uuid":"930b209a-4ff6-4e76-a78d-fcba988e7330","case_id":"0df573ee-28f0-4244-b434-09e6ca59fbf0","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"99","Hugo_Symbol":"FLT3","Entrez_Gene_Id":2322,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr13","Start_Position":28049648,"End_Position":28049648,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"T","Tumor_Seq_Allele1":"T","Tumor_Seq_Allele2":"G","Tumor_Sample_Barcode":"TCGA-05-4396-01A-21D-1855-08","Matched_Norm_Sample_Barcode":"TCGA-05-4396-10A-01D-1855-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"0176cf1d-0760-4769-a493-277f4bb7585e","Matched_Norm_Sample_UUID":"1f8820d1-4a97-41b7-a4d8-be832c9e0575","HGVSc":"c.869A>C","HGVSp":"p.Lys290Thr","HGVSp_Short":"p.K290T","Transcript_ID":"ENST00000241453","Exon_Number":"7/24","t_depth":158,"t_ref_count":102,"t_alt_count":56,"n_depth":118,"all_effects":"FLT3,missense_variant,p.K290T,ENST00000241453,NM_004119.3,c.869A>C,MODERATE,YES,tolerated(0.09),benign(0.023),-1;FLT3,missense_variant,p.K290T,ENST00000380987,,c.869A>C,MODERATE,,tolerated(0.07),benign(0.091),-1","Allele":"G","Gene":"ENSG00000122025","Feature":"ENST00000241453","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"935/3826","CDS_position":"869/2982","Protein_position":"290/993","Amino_acids":"K/T","Codons":"aAa/aCa","Existing_variation":"COSV54072814","TRANSCRIPT_STRAND":-1,"SYMBOL":"FLT3","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:3765","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS31953.1","ENSP":"ENSP00000241453","SWISSPROT":"P36888.197","UNIPARC":"UPI00001FC90B","UNIPROT_ISOFORM":"P36888-1","RefSeq":"NM_004119.3","MANE":"NM_004119.3","APPRIS":"P1","SIFT":"tolerated(0.09)","PolyPhen":"benign(0.023)","EXON":"7/24","DOMAINS":"PDB-ENSP_mappings:3qs7.E;PDB-ENSP_mappings:3qs7.F;PDB-ENSP_mappings:3qs7.G;PDB-ENSP_mappings:3qs7.H;PDB-ENSP_mappings:3qs9.E;PDB-ENSP_mappings:3qs9.F;PDB-ENSP_mappings:3qs9.G;PDB-ENSP_mappings:3qs9.H;PROSITE_profiles:PS50835;PANTHER:PTHR24416:SF356;PANTHER:PTHR24416;PIRSF:PIRSF000615;Gene3D:2.60.40.10;Pfam:PF00047;Superfamily:SSF48726","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","GENE_PHENO":"1","CONTEXT":"GTGCTTTGTTT","tumor_bam_uuid":"25f239bb-883f-44bf-88c2-3977503a5321","normal_bam_uuid":"69e9e6eb-f053-4285-a66e-2e12216d6893","case_id":"9f81c602-8afa-4588-b0b6-6e5a1a128d5a","COSMIC":"COSM6074337","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"41","Hugo_Symbol":"GRM7","Entrez_Gene_Id":2917,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr3","Start_Position":7680154,"End_Position":7680154,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"C","Tumor_Sample_Barcode":"TCGA-78-7161-01A-11D-2036-08","Matched_Norm_Sample_Barcode":"TCGA-78-7161-10A-01D-2036-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"1d917fa9-30cf-439f-817b-24cf49c459f7","Matched_Norm_Sample_UUID":"944503e4-29da-42c7-addd-fc2218391c88","HGVSc":"c.2557G>C","HGVSp":"p.Glu853Gln","HGVSp_Short":"p.E853Q","Transcript_ID":"ENST00000357716","Exon_Number":"9/10","t_depth":69,"t_ref_count":24,"t_alt_count":45,"n_depth":65,"all_effects":"GRM7,missense_variant,p.E853Q,ENST00000486284,NM_181874.2,c.2557G>C,MODERATE,YES,tolerated(0.4),possibly_damaging(0.73),1;GRM7,missense_variant,p.E853Q,ENST00000357716,NM_000844.4,c.2557G>C,MODERATE,,tolerated(0.4),probably_damaging(0.968),1;GRM7,missense_variant,p.E853Q,ENST00000389336,,c.2557G>C,MODERATE,,tolerated(0.41),probably_damaging(0.986),1;GRM7,missense_variant,p.E608Q,ENST00000402647,,c.1822G>C,MODERATE,,tolerated(0.27),possibly_damaging(0.73),1;GRM7,missense_variant,p.E853Q,ENST00000467425,,c.2557G>C,MODERATE,,tolerated(0.4),possibly_damaging(0.73),1;GRM7,missense_variant,p.E853Q,ENST00000440923,,c.2557G>C,MODERATE,,tolerated(0.34),possibly_damaging(0.555),1;GRM7,missense_variant,p.E853Q,ENST00000389335,,c.2557G>C,MODERATE,,tolerated(0.42),probably_damaging(0.986),1;GRM7,non_coding_transcript_exon_variant,,ENST00000463676,,n.1822G>C,MODIFIER,,,,1;AC077690.1,intron_variant,,ENST00000652500,,n.385-65891C>G,MODIFIER,,,,-1","Allele":"C","Gene":"ENSG00000196277","Feature":"ENST00000357716","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"2831/4149","CDS_position":"2557/2748","Protein_position":"853/915","Amino_acids":"E/Q","Codons":"Gaa/Caa","Existing_variation":"COSV63158798","TRANSCRIPT_STRAND":1,"SYMBOL":"GRM7","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:4599","BIOTYPE":"protein_coding","CCDS":"CCDS43042.1","ENSP":"ENSP00000350348","SWISSPROT":"Q14831.171","UNIPARC":"UPI000004A7E3","UNIPROT_ISOFORM":"Q14831-1","RefSeq":"NM_000844.4","MANE":"NM_000844.4","APPRIS":"P4","SIFT":"tolerated(0.4)","PolyPhen":"probably_damaging(0.968)","EXON":"9/10","DOMAINS":"PROSITE_profiles:PS50259;PANTHER:PTHR24060;PANTHER:PTHR24060:SF98;CDD:cd15451","SOMATIC":"1","IMPACT":"MODERATE","VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","CONTEXT":"ACCCTGAACTC","tumor_bam_uuid":"884abc28-5dd3-4676-84af-260ea3289e37","normal_bam_uuid":"55573383-761e-47dc-a886-9f501ad532bb","case_id":"86faf16c-56fd-4b7b-a6b2-b4c83bec93e1","COSMIC":"COSM6165669;COSM6165670;COSM6165671;COSM6165672","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"417","Hugo_Symbol":"MAPK4","Entrez_Gene_Id":5596,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr18","Start_Position":50722069,"End_Position":50722069,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-62-8399-01A-21D-2323-08","Matched_Norm_Sample_Barcode":"TCGA-62-8399-10A-01D-2323-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"dd097196-01a6-43dc-976f-4f9c5221f384","Matched_Norm_Sample_UUID":"310ce1a5-5291-425e-8f7e-9772a7eb9d4a","HGVSc":"c.823C>A","HGVSp":"p.Arg275Ser","HGVSp_Short":"p.R275S","Transcript_ID":"ENST00000400384","Exon_Number":"4/6","t_depth":64,"t_ref_count":41,"t_alt_count":23,"n_depth":58,"all_effects":"MAPK4,missense_variant,p.R275S,ENST00000400384,NM_002747.4,c.823C>A,MODERATE,YES,tolerated(0.53),benign(0.173),1;MAPK4,missense_variant,p.R64S,ENST00000540640,NM_001292039.2,c.190C>A,MODERATE,,tolerated(0.49),benign(0.173),1;MAPK4,intron_variant,,ENST00000592595,NM_001292040.2,c.691+6846C>A,MODIFIER,,,,1","Allele":"A","Gene":"ENSG00000141639","Feature":"ENST00000400384","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"1850/4763","CDS_position":"823/1764","Protein_position":"275/587","Amino_acids":"R/S","Codons":"Cgc/Agc","Existing_variation":"COSV101245310;COSV101245513","TRANSCRIPT_STRAND":1,"SYMBOL":"MAPK4","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:6878","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS42437.1","ENSP":"ENSP00000383234","SWISSPROT":"P31152.181","UNIPARC":"UPI0000201D20","RefSeq":"NM_002747.4","MANE":"NM_002747.4","APPRIS":"P1","SIFT":"tolerated(0.53)","PolyPhen":"benign(0.173)","EXON":"4/6","DOMAINS":"PANTHER:PTHR24055:SF25;PANTHER:PTHR24055;PROSITE_profiles:PS50011;Superfamily:SSF56112;SMART:SM00220;Pfam:PF00069;Gene3D:3.30.200.20;Gene3D:1.10.510.10;CDD:cd07854","SOMATIC":"1;1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1;1","CONTEXT":"CTCTGCGCAAG","tumor_bam_uuid":"697ac18f-2864-4a54-a7c1-5a69adadc4f5","normal_bam_uuid":"008db3c7-d014-4706-872c-95c5d3380eb8","case_id":"62380447-3b94-4e7c-823a-72dd7b4ccf3a","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"148","Hugo_Symbol":"ZNF536","Entrez_Gene_Id":9745,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr19","Start_Position":30444466,"End_Position":30444466,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"T","Tumor_Seq_Allele1":"T","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-55-7907-01A-11D-2167-08","Matched_Norm_Sample_Barcode":"TCGA-55-7907-10A-01D-2167-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"0dbafe19-dd11-4a91-b946-ebd346121b64","Matched_Norm_Sample_UUID":"643450d7-0116-4289-a05d-ab41e2d3f5fb","HGVSc":"c.904T>A","HGVSp":"p.Cys302Ser","HGVSp_Short":"p.C302S","Transcript_ID":"ENST00000355537","Exon_Number":"2/5","t_depth":126,"t_ref_count":101,"t_alt_count":25,"n_depth":118,"all_effects":"ZNF536,missense_variant,p.C302S,ENST00000355537,NM_014717.3,c.904T>A,MODERATE,YES,deleterious(0),probably_damaging(0.999),1;ZNF536,missense_variant,p.C302S,ENST00000585628,NM_001376110.1&NM_001376111.1&NM_001352260.2,c.904T>A,MODERATE,,deleterious(0),probably_damaging(0.999),1;ZNF536,downstream_gene_variant,,ENST00000591488,,,MODIFIER,,,,1","Allele":"A","Gene":"ENSG00000198597","Feature":"ENST00000355537","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"1079/4973","CDS_position":"904/3903","Protein_position":"302/1300","Amino_acids":"C/S","Codons":"Tgc/Agc","Existing_variation":"COSV62831801","TRANSCRIPT_STRAND":1,"SYMBOL":"ZNF536","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:29025","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS32984.1","ENSP":"ENSP00000347730","SWISSPROT":"O15090.156","UNIPARC":"UPI000006ED3E","RefSeq":"NM_014717.3","MANE":"NM_014717.3","APPRIS":"P1","SIFT":"deleterious(0)","PolyPhen":"probably_damaging(0.999)","EXON":"2/5","DOMAINS":"Gene3D:3.30.160.60;PROSITE_profiles:PS50157;PANTHER:PTHR45925;PANTHER:PTHR45925:SF2;SMART:SM00355;Superfamily:SSF57667","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","CONTEXT":"ACAAGTGCACG","tumor_bam_uuid":"402faa7d-eda4-4db8-8dd0-cb5270757b13","normal_bam_uuid":"33d8628d-03ec-479a-accc-1870c6141066","case_id":"bf755bc2-b7aa-4c3c-8b3c-58b089b5cab6","COSMIC":"COSM6150682","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"343","Hugo_Symbol":"RANGAP1","Entrez_Gene_Id":5905,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr22","Start_Position":41261527,"End_Position":41261527,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-44-2656-01A-02W-0928-08","Matched_Norm_Sample_Barcode":"TCGA-44-2656-10A-01D-0969-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"b2773f71-23ca-4f92-99cb-1452846a1b36","Matched_Norm_Sample_UUID":"03b8420d-480f-48e1-88a7-8ee9917049a6","HGVSc":"c.534G>T","HGVSp":"p.Lys178Asn","HGVSp_Short":"p.K178N","Transcript_ID":"ENST00000356244","Exon_Number":"6/16","t_depth":59,"t_ref_count":46,"t_alt_count":12,"n_depth":165,"all_effects":"RANGAP1,missense_variant,p.K178N,ENST00000455915,,c.534G>T,MODERATE,YES,tolerated(0.06),benign(0.266),-1;RANGAP1,missense_variant,p.K178N,ENST00000356244,NM_001317930.2&NM_002883.4,c.534G>T,MODERATE,,tolerated(0.06),benign(0.266),-1;RANGAP1,missense_variant,p.K178N,ENST00000405486,NM_001278651.2,c.534G>T,MODERATE,,tolerated(0.06),benign(0.266),-1;RANGAP1,intron_variant,,ENST00000446258,,c.301+3137G>T,MODIFIER,,,,-1;RANGAP1,downstream_gene_variant,,ENST00000452543,,,MODIFIER,,,,-1","Allele":"A","Gene":"ENSG00000100401","Feature":"ENST00000356244","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"774/3828","CDS_position":"534/1764","Protein_position":"178/587","Amino_acids":"K/N","Codons":"aaG/aaT","Existing_variation":"COSV62362614","TRANSCRIPT_STRAND":-1,"SYMBOL":"RANGAP1","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:9854","BIOTYPE":"protein_coding","CCDS":"CCDS14012.1","ENSP":"ENSP00000348577","SWISSPROT":"P46060.217","TREMBL":"A0A024R1U0.52","UNIPARC":"UPI0000000DD9","RefSeq":"NM_001317930.2;NM_002883.4","MANE":"NM_002883.4","APPRIS":"P1","SIFT":"tolerated(0.06)","PolyPhen":"benign(0.266)","EXON":"6/16","DOMAINS":"Gene3D:3.80.10.10;PANTHER:PTHR24113;PANTHER:PTHR24113:SF6;Superfamily:SSF52047;CDD:cd00116","SOMATIC":"1","IMPACT":"MODERATE","VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","CONTEXT":"AGAGGCTTGCC","tumor_bam_uuid":"3543b887-5dbd-4038-b787-d7a6cb73842a","normal_bam_uuid":"ada4ffdf-3ba5-4ad0-8eb4-634d04b2b9b8","case_id":"42ca54fc-c1ae-41cd-bca1-7fe9810db460","COSMIC":"COSM6095287","hotspot":"N","RNA_Support":"Unknown","callers":"muse;varscan2"}
{"X1":"269","Hugo_Symbol":"KRTAP20-1","Entrez_Gene_Id":337975,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr21","Start_Position":30616500,"End_Position":30616500,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-86-8279-01A-11D-2284-08","Matched_Norm_Sample_Barcode":"TCGA-86-8279-10A-01D-2284-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"0eeb260b-a7b0-48de-babf-cade1a3ad1b7","Matched_Norm_Sample_UUID":"5424f493-0b60-4180-ba08-7fe158efefaa","HGVSc":"c.46C>A","HGVSp":"p.Leu16Ile","HGVSp_Short":"p.L16I","Transcript_ID":"ENST00000334664","Exon_Number":"1/1","t_depth":114,"t_ref_count":76,"t_alt_count":37,"n_depth":71,"all_effects":"KRTAP20-1,missense_variant,p.L16I,ENST00000334664,NM_181615.2,c.46C>A,MODERATE,YES,,possibly_damaging(0.686),1;KRTAP6-1,upstream_gene_variant,,ENST00000329122,NM_181602.1,,MODIFIER,YES,,,-1;KRTAP20-4,upstream_gene_variant,,ENST00000382828,NM_001350977.1,,MODIFIER,YES,,,1","Allele":"A","Gene":"ENSG00000244624","Feature":"ENST00000334664","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"76/275","CDS_position":"46/171","Protein_position":"16/56","Amino_acids":"L/I","Codons":"Ctt/Att","Existing_variation":"COSV100228851","TRANSCRIPT_STRAND":1,"SYMBOL":"KRTAP20-1","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:18943","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS13603.1","ENSP":"ENSP00000335503","SWISSPROT":"Q3LI63.82","UNIPARC":"UPI00001A9E4F","RefSeq":"NM_181615.2","MANE":"NM_181615.2","APPRIS":"P1","PolyPhen":"possibly_damaging(0.686)","EXON":"1/1","DOMAINS":"Low_complexity_(Seg):seg;Transmembrane_helices:TMhelix;PANTHER:PTHR39653:SF4;PANTHER:PTHR39653;Pfam:PF11759","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","PHENO":"1","CONTEXT":"GTGGGCTTGGC","tumor_bam_uuid":"e1396ad4-277d-4cb6-b6b0-7a1856e0e7c6","normal_bam_uuid":"42a2b4b9-941d-492e-94aa-ce081e73887b","case_id":"2923e404-38f2-437a-b57e-23401fbe0273","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"572","Hugo_Symbol":"DRD5","Entrez_Gene_Id":1816,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr4","Start_Position":9783320,"End_Position":9783320,"Strand":"+","Variant_Classification":"Nonsense_Mutation","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"T","Tumor_Sample_Barcode":"TCGA-78-7147-01A-11D-2036-08","Matched_Norm_Sample_Barcode":"TCGA-78-7147-10A-01D-2036-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"a030f9a1-a066-4c6e-82c3-24c893e38466","Matched_Norm_Sample_UUID":"55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e","HGVSc":"c.1291G>T","HGVSp":"p.Glu431Ter","HGVSp_Short":"p.E431*","Transcript_ID":"ENST00000304374","Exon_Number":"1/1","t_depth":57,"t_ref_count":44,"t_alt_count":13,"n_depth":86,"all_effects":"DRD5,stop_gained,p.E431*,ENST00000304374,NM_000798.5,c.1291G>T,HIGH,YES,,,1;SLC2A9,intron_variant,,ENST00000503803,,n.386-3255C>A,MODIFIER,,,,-1;SLC2A9,intron_variant,,ENST00000508585,,n.182-11951C>A,MODIFIER,,,,-1","Allele":"T","Gene":"ENSG00000169676","Feature":"ENST00000304374","Feature_type":"Transcript","One_Consequence":"stop_gained","Consequence":"stop_gained","cDNA_position":"1687/2376","CDS_position":"1291/1434","Protein_position":"431/477","Amino_acids":"E/*","Codons":"Gag/Tag","Existing_variation":"COSV58577863","TRANSCRIPT_STRAND":1,"SYMBOL":"DRD5","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:3026","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS3405.1","ENSP":"ENSP00000306129","SWISSPROT":"P21918.210","UNIPARC":"UPI000004E905","RefSeq":"NM_000798.5","MANE":"NM_000798.5","APPRIS":"P1","EXON":"1/1","SOMATIC":"1","IMPACT":"HIGH","PICK":1,"VARIANT_CLASS":"SNV","PHENO":"1","GENE_PHENO":"1","CONTEXT":"AGGAGGAGGGT","tumor_bam_uuid":"267d2187-30d3-4e7e-91b7-edcfc965500b","normal_bam_uuid":"ba0635b0-708d-4aa1-b418-15b80b35386a","case_id":"e7d30bc2-42e8-49c5-a5b3-9f58411b007a","COSMIC":"COSM6168211","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"561","Hugo_Symbol":"DCUN1D3","Entrez_Gene_Id":123879,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr16","Start_Position":20859944,"End_Position":20859945,"Strand":"+","Variant_Classification":"Frame_Shift_Ins","Variant_Type":"INS","Reference_Allele":"-","Tumor_Seq_Allele1":"-","Tumor_Seq_Allele2":"C","dbSNP_RS":"novel","Tumor_Sample_Barcode":"TCGA-17-Z022-01A-01W-0746-08","Matched_Norm_Sample_Barcode":"TCGA-17-Z022-11A-01W-0746-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"7f07e5b3-bf70-4690-84ba-a9eace798a24","Matched_Norm_Sample_UUID":"61862004-a35f-4af5-95c0-ee3de1158131","HGVSc":"c.856dup","HGVSp":"p.Glu286GlyfsTer11","HGVSp_Short":"p.E286Gfs*11","Transcript_ID":"ENST00000324344","Exon_Number":"3/3","t_depth":44,"t_ref_count":27,"t_alt_count":17,"n_depth":127,"all_effects":"DCUN1D3,frameshift_variant,p.E286Gfs*11,ENST00000324344,NM_173475.4,c.856dup,HIGH,YES,,,-1;DCUN1D3,frameshift_variant,p.E286Gfs*11,ENST00000563934,,c.856dup,HIGH,,,,-1;ERI2,intron_variant,,ENST00000564349,,c.-257+36363dup,MODIFIER,,,,-1","Allele":"C","Gene":"ENSG00000188215","Feature":"ENST00000324344","Feature_type":"Transcript","One_Consequence":"frameshift_variant","Consequence":"frameshift_variant","cDNA_position":"1116-1117/6136","CDS_position":"856-857/915","Protein_position":"286/304","Amino_acids":"E/GX","Codons":"gaa/gGaa","TRANSCRIPT_STRAND":-1,"SYMBOL":"DCUN1D3","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:28734","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS10592.1","ENSP":"ENSP00000319482","SWISSPROT":"Q8IWE4.122","UNIPARC":"UPI000005032C","RefSeq":"NM_173475.4","MANE":"NM_173475.4","APPRIS":"P1","EXON":"3/3","DOMAINS":"PDB-ENSP_mappings:4gba.A;PDB-ENSP_mappings:4gba.B;Low_complexity_(Seg):seg;MobiDB_lite:mobidb-lite;PANTHER:PTHR12281;PANTHER:PTHR12281:SF23","IMPACT":"HIGH","PICK":1,"VARIANT_CLASS":"insertion","TSL":1,"CONTEXT":"TCCCTTCCCCT","tumor_bam_uuid":"1cf92bb6-d15e-4fe2-84d5-b55215b228ad","normal_bam_uuid":"3ae13c21-3d20-4112-adce-46f8c028f0db","case_id":"e44e279b-103e-436e-8988-1139b000bdfd","hotspot":"N","RNA_Support":"Unknown","callers":"mutect2;pindel;varscan2"}
{"X1":"353","Hugo_Symbol":"PITPNM1","Entrez_Gene_Id":9600,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr11","Start_Position":67492107,"End_Position":67492107,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"C","Tumor_Sample_Barcode":"TCGA-35-4122-01A-01D-1105-08","Matched_Norm_Sample_Barcode":"TCGA-35-4122-10A-01D-1105-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"408e1cb4-64a8-4801-bf58-3b8183ede851","Matched_Norm_Sample_UUID":"a969f6fd-3d2e-447c-bf05-57c2466b3357","HGVSc":"c.3661C>G","HGVSp":"p.Pro1221Ala","HGVSp_Short":"p.P1221A","Transcript_ID":"ENST00000356404","Exon_Number":"24/24","t_depth":102,"t_ref_count":85,"t_alt_count":17,"n_depth":132,"all_effects":"PITPNM1,missense_variant,p.P1221A,ENST00000356404,NM_004910.3,c.3661C>G,MODERATE,YES,tolerated_low_confidence(0.15),benign(0.007),-1;PITPNM1,missense_variant,p.P1220A,ENST00000436757,NM_001130848.2,c.3658C>G,MODERATE,,tolerated_low_confidence(0.16),benign(0.019),-1;PITPNM1,missense_variant,p.P1221A,ENST00000534749,,c.3661C>G,MODERATE,,tolerated_low_confidence(0.15),benign(0.007),-1;AIP,downstream_gene_variant,,ENST00000279146,NM_003977.4&NM_001302960.2&NM_001302959.1,,MODIFIER,YES,,,1;AIP,downstream_gene_variant,,ENST00000525341,,,MODIFIER,,,,1;AIP,downstream_gene_variant,,ENST00000528641,,,MODIFIER,,,,1;MIR6752,downstream_gene_variant,,ENST00000618442,,,MODIFIER,YES,,,1;PITPNM1,non_coding_transcript_exon_variant,,ENST00000527370,,n.3374C>G,MODIFIER,,,,-1;PITPNM1,downstream_gene_variant,,ENST00000525568,,,MODIFIER,,,,-1;PITPNM1,downstream_gene_variant,,ENST00000526450,,,MODIFIER,,,,-1;PITPNM1,downstream_gene_variant,,ENST00000526602,,,MODIFIER,,,,-1;AIP,downstream_gene_variant,,ENST00000529797,,,MODIFIER,,,,1","Allele":"C","Gene":"ENSG00000110697","Feature":"ENST00000356404","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"3878/4217","CDS_position":"3661/3735","Protein_position":"1221/1244","Amino_acids":"P/A","Codons":"Ccg/Gcg","Existing_variation":"COSV54159798","TRANSCRIPT_STRAND":-1,"SYMBOL":"PITPNM1","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:9003","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS31620.1","ENSP":"ENSP00000348772","SWISSPROT":"O00562.154","TREMBL":"A0A024R5I7.50","UNIPARC":"UPI00001FAD31","UNIPROT_ISOFORM":"O00562-1","RefSeq":"NM_004910.3","MANE":"NM_004910.3","APPRIS":"P4","SIFT":"tolerated_low_confidence(0.15)","PolyPhen":"benign(0.007)","EXON":"24/24","DOMAINS":"MobiDB_lite:mobidb-lite;PANTHER:PTHR10658;PANTHER:PTHR10658:SF40","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","CONTEXT":"TCCCGGGCCCT","tumor_bam_uuid":"1d1f87ac-6183-42b4-ae1c-0473d11c85c4","normal_bam_uuid":"0b21e21f-0de1-4c8c-9ca2-fa44a82262c5","case_id":"44adf4cb-2829-4153-80fd-a8b7ee0e654a","COSMIC":"COSM6070247","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"146","Hugo_Symbol":"OR5D13","Entrez_Gene_Id":390142,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr11","Start_Position":55773577,"End_Position":55773577,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"T","Tumor_Seq_Allele1":"T","Tumor_Seq_Allele2":"G","Tumor_Sample_Barcode":"TCGA-69-7765-01A-11D-2167-08","Matched_Norm_Sample_Barcode":"TCGA-69-7765-10A-01D-2167-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"0ba008c9-dc81-4721-92b2-793b2cef0ae6","Matched_Norm_Sample_UUID":"2ba9f976-7e53-4ad6-b833-9f2b78225272","HGVSc":"c.140T>G","HGVSp":"p.Met47Arg","HGVSp_Short":"p.M47R","Transcript_ID":"ENST00000623930","Exon_Number":"1/1","t_depth":124,"t_ref_count":96,"t_alt_count":28,"n_depth":69,"all_effects":"OR5D13,missense_variant,p.M47R,ENST00000623930,NM_001001967.1,c.140T>G,MODERATE,YES,deleterious(0.01),benign(0.062),1","Allele":"G","Gene":"ENSG00000279761","Feature":"ENST00000623930","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"140/945","CDS_position":"140/945","Protein_position":"47/314","Amino_acids":"M/R","Codons":"aTg/aGg","Existing_variation":"COSV62333414","TRANSCRIPT_STRAND":1,"SYMBOL":"OR5D13","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:15280","BIOTYPE":"protein_coding","CANONICAL":"YES","ENSP":"ENSP00000485428","SWISSPROT":"Q8NGL4.136","UNIPARC":"UPI0000041C36","RefSeq":"NM_001001967.1","MANE":"NM_001001967.1","APPRIS":"P1","SIFT":"deleterious(0.01)","PolyPhen":"benign(0.062)","EXON":"1/1","DOMAINS":"Gene3D:1.20.1070.10;Pfam:PF13853;Prints:PR00237;PROSITE_profiles:PS50262;PANTHER:PTHR26452;PANTHER:PTHR26452:SF798;Superfamily:SSF81321;Transmembrane_helices:TMhelix;CDD:cd15410","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","PHENO":"1","CONTEXT":"GGGCATGATAA","tumor_bam_uuid":"b0cea8ed-de0f-4912-bdd5-122f26f7611c","normal_bam_uuid":"b712b402-3bdb-46c7-8ab8-90f4b727476d","case_id":"bcf2e591-9dae-440f-bd03-5f27c57db741","COSMIC":"COSM6133117","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"309","Hugo_Symbol":"GLIS1","Entrez_Gene_Id":148979,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr1","Start_Position":53594869,"End_Position":53594869,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"A","Tumor_Seq_Allele1":"A","Tumor_Seq_Allele2":"C","Tumor_Sample_Barcode":"TCGA-50-5930-01A-11D-1753-08","Matched_Norm_Sample_Barcode":"TCGA-50-5930-11A-01D-1753-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"bd3e88b3-b37c-4641-85fa-d8125ba324ca","Matched_Norm_Sample_UUID":"99a809f8-c87d-4d0a-a5d5-29918228b48f","HGVSc":"c.34T>G","HGVSp":"p.Cys12Gly","HGVSp_Short":"p.C12G","Transcript_ID":"ENST00000312233","Exon_Number":"3/10","t_depth":17,"t_ref_count":11,"t_alt_count":6,"n_depth":14,"all_effects":"GLIS1,missense_variant,p.C12G,ENST00000312233,NM_147193.2,c.34T>G,MODERATE,,deleterious_low_confidence(0.04),benign(0.204),-1;GLIS1,missense_variant,p.C187G,ENST00000628545,NM_001367484.1,c.559T>G,MODERATE,YES,deleterious_low_confidence(0.03),benign(0.019),-1","Allele":"C","Gene":"ENSG00000174332","Feature":"ENST00000312233","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"601/2812","CDS_position":"34/1863","Protein_position":"12/620","Amino_acids":"C/G","Codons":"Tgt/Ggt","Existing_variation":"COSV56546395","TRANSCRIPT_STRAND":-1,"SYMBOL":"GLIS1","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:29525","BIOTYPE":"protein_coding","CCDS":"CCDS582.1","ENSP":"ENSP00000309653","SWISSPROT":"Q8NBF1.129","UNIPARC":"UPI000013F293","RefSeq":"NM_147193.2","APPRIS":"A2","SIFT":"deleterious_low_confidence(0.04)","PolyPhen":"benign(0.204)","EXON":"3/10","DOMAINS":"PANTHER:PTHR45718;PANTHER:PTHR45718:SF3","SOMATIC":"1","IMPACT":"MODERATE","VARIANT_CLASS":"SNV","TSL":2,"PHENO":"1","CONTEXT":"CCGACAGTGGG","tumor_bam_uuid":"c490b081-c6d9-42bc-aefa-458c8e4cb5cc","normal_bam_uuid":"ec893dbc-40ac-476b-96c3-f705937275e5","case_id":"368e23f0-e573-4547-bf5a-14080baf737b","COSMIC":"COSM6126931","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"89","Hugo_Symbol":"TSHZ3","Entrez_Gene_Id":57616,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr19","Start_Position":31277763,"End_Position":31277763,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"A","dbSNP_RS":"rs1164252025","Tumor_Sample_Barcode":"TCGA-17-Z015-01A-01W-0746-08","Matched_Norm_Sample_Barcode":"TCGA-17-Z015-11A-01W-0746-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"770c22ba-b759-433e-8478-b6cf0d685447","Matched_Norm_Sample_UUID":"5f28439b-9f5d-46dc-9d6e-58d8e1d9143c","HGVSc":"c.2030G>T","HGVSp":"p.Gly677Val","HGVSp_Short":"p.G677V","Transcript_ID":"ENST00000240587","Exon_Number":"2/2","t_depth":68,"t_ref_count":39,"t_alt_count":29,"n_depth":46,"all_effects":"TSHZ3,missense_variant,p.G677V,ENST00000240587,NM_020856.4,c.2030G>T,MODERATE,YES,tolerated(0.24),benign(0.025),-1;TSHZ3,intron_variant,,ENST00000651361,,n.64-34888G>T,MODIFIER,,,,-1;TSHZ3,downstream_gene_variant,,ENST00000560707,,,MODIFIER,,,,-1","Allele":"A","Gene":"ENSG00000121297","Feature":"ENST00000240587","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"2247/5065","CDS_position":"2030/3246","Protein_position":"677/1081","Amino_acids":"G/V","Codons":"gGg/gTg","Existing_variation":"rs1164252025;COSV53663731","TRANSCRIPT_STRAND":-1,"SYMBOL":"TSHZ3","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:30700","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS12421.2","ENSP":"ENSP00000240587","SWISSPROT":"Q63HK5.158","UNIPARC":"UPI0000202000","RefSeq":"NM_020856.4","MANE":"NM_020856.4","APPRIS":"P1","SIFT":"tolerated(0.24)","PolyPhen":"benign(0.025)","EXON":"2/2","DOMAINS":"MobiDB_lite:mobidb-lite;PANTHER:PTHR12487;PANTHER:PTHR12487:SF5","gnomAD_AF":"0","gnomAD_AFR_AF":"0","gnomAD_AMR_AF":"0","gnomAD_ASJ_AF":"0","gnomAD_EAS_AF":"0","gnomAD_FIN_AF":"0","gnomAD_NFE_AF":"0","gnomAD_OTH_AF":"0","gnomAD_SAS_AF":"0","MAX_AF":"0","MAX_AF_POPS":"gnomAD_AFR;gnomAD_AMR;gnomAD_ASJ;gnomAD_EAS;gnomAD_FIN;gnomAD_NFE;gnomAD_OTH;gnomAD_SAS","SOMATIC":"0;1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"0;1","CONTEXT":"TGCACCCATCC","tumor_bam_uuid":"170ec5c1-d1ca-4b87-b630-f3a05d4324b6","normal_bam_uuid":"79a18032-a14b-48d1-943f-3671413906b0","case_id":"9b714a42-62e8-4b33-947e-6c4850725afd","COSMIC":"COSM6084668;COSM6084669","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"337","Hugo_Symbol":"UBQLNL","Entrez_Gene_Id":143630,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr11","Start_Position":5515794,"End_Position":5515794,"Strand":"+","Variant_Classification":"Silent","Variant_Type":"SNP","Reference_Allele":"A","Tumor_Seq_Allele1":"A","Tumor_Seq_Allele2":"T","Tumor_Sample_Barcode":"TCGA-55-8506-01A-11D-2393-08","Matched_Norm_Sample_Barcode":"TCGA-55-8506-10A-01D-2393-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"30c689e3-563d-41f1-b08e-9322653e2eb2","Matched_Norm_Sample_UUID":"1ad5dca0-8616-4d2d-82b7-05098d7844d9","HGVSc":"c.648T>A","HGVSp":"p.Leu216=","HGVSp_Short":"p.L216=","Transcript_ID":"ENST00000380184","Exon_Number":"1/1","t_depth":158,"t_ref_count":117,"t_alt_count":41,"n_depth":211,"all_effects":"UBQLNL,synonymous_variant,p.L216=,ENST00000380184,NM_145053.5,c.648T>A,LOW,YES,,,-1;UBQLNL,synonymous_variant,p.L206=,ENST00000673910,,c.618T>A,LOW,,,,-1;AC104389.5,intron_variant,,ENST00000380259,,c.*739+75031T>A,MODIFIER,YES,,,-1;OLFM5P,downstream_gene_variant,,ENST00000411807,,,MODIFIER,YES,,,-1","Allele":"T","Gene":"ENSG00000175518","Feature":"ENST00000380184","Feature_type":"Transcript","One_Consequence":"synonymous_variant","Consequence":"synonymous_variant","cDNA_position":"906/2307","CDS_position":"648/1428","Protein_position":"216/475","Amino_acids":"L","Codons":"ctT/ctA","Existing_variation":"COSV100973341","TRANSCRIPT_STRAND":-1,"SYMBOL":"UBQLNL","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:28294","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS31385.1","ENSP":"ENSP00000369531","SWISSPROT":"Q8IYU4.120","UNIPARC":"UPI000066D8EC","UNIPROT_ISOFORM":"Q8IYU4-1","RefSeq":"NM_145053.5","MANE":"NM_145053.5","APPRIS":"P4","EXON":"1/1","DOMAINS":"PANTHER:PTHR10677;PANTHER:PTHR10677:SF9","SOMATIC":"1","IMPACT":"LOW","VARIANT_CLASS":"SNV","PHENO":"1","CONTEXT":"TTATCAAGAAG","tumor_bam_uuid":"86d1af8e-0d02-4bab-8fe3-9242e4dbe387","normal_bam_uuid":"aad7c7fc-109b-48b4-9744-719cc29d528f","case_id":"3ed05070-6633-4de5-9f72-090f93aa2e4d","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"371","Hugo_Symbol":"ARPP21","Entrez_Gene_Id":10777,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr3","Start_Position":35721638,"End_Position":35721638,"Strand":"+","Variant_Classification":"Silent","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-49-6761-01A-31D-1945-08","Matched_Norm_Sample_Barcode":"TCGA-49-6761-11A-01D-1945-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"5721b714-3c3e-49e8-b301-25727fd130cd","Matched_Norm_Sample_UUID":"24721de3-4572-4864-9ba5-1f54a9023005","HGVSc":"c.1029G>A","HGVSp":"p.Gly343=","HGVSp_Short":"p.G343=","Transcript_ID":"ENST00000187397","Exon_Number":"14/20","t_depth":40,"t_ref_count":35,"t_alt_count":4,"n_depth":66,"all_effects":"ARPP21,synonymous_variant,p.G343=,ENST00000187397,NM_016300.4,c.1029G>A,LOW,,,,1;ARPP21,synonymous_variant,p.G289=,ENST00000444190,NM_001267617.1,c.867G>A,LOW,,,,1;ARPP21,synonymous_variant,p.G309=,ENST00000417925,NM_001267619.1,c.927G>A,LOW,YES,,,1;ARPP21,synonymous_variant,p.G116=,ENST00000425289,,c.348G>A,LOW,,,,1;ARPP21,intron_variant,,ENST00000476327,,n.82-7665G>A,MODIFIER,,,,1;ARPP21,missense_variant,p.G94E,ENST00000427590,,c.281G>A,MODERATE,,tolerated_low_confidence(0.16),benign(0.003),1;ARPP21,synonymous_variant,p.G1=,ENST00000457165,,c.3G>A,LOW,,,,1;ARPP21,non_coding_transcript_exon_variant,,ENST00000481854,,n.607G>A,MODIFIER,,,,1;ARPP21,downstream_gene_variant,,ENST00000446068,,,MODIFIER,,,,1","Allele":"A","Gene":"ENSG00000172995","Feature":"ENST00000187397","Feature_type":"Transcript","One_Consequence":"synonymous_variant","Consequence":"synonymous_variant","cDNA_position":"1485/3433","CDS_position":"1029/2439","Protein_position":"343/812","Amino_acids":"G","Codons":"ggG/ggA","Existing_variation":"COSV51791925","TRANSCRIPT_STRAND":1,"SYMBOL":"ARPP21","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:16968","BIOTYPE":"protein_coding","CCDS":"CCDS2661.1","ENSP":"ENSP00000187397","SWISSPROT":"Q9UBL0.135","UNIPARC":"UPI0000192731","UNIPROT_ISOFORM":"Q9UBL0-1","RefSeq":"NM_016300.4","APPRIS":"P1","EXON":"14/20","DOMAINS":"PANTHER:PTHR15672;PANTHER:PTHR15672:SF14;MobiDB_lite:mobidb-lite;MobiDB_lite:mobidb-lite;Low_complexity_(Seg):seg","SOMATIC":"1","IMPACT":"LOW","VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","CONTEXT":"TCTGGGAGTCG","tumor_bam_uuid":"6d91e593-1909-4809-90c3-a9bdd829a848","normal_bam_uuid":"1385f134-f77b-44ef-b9b4-86e0706f480a","case_id":"4cd3d483-2283-4c6a-a57a-444216119d34","COSMIC":"COSM6164488;COSM6164489","hotspot":"N","RNA_Support":"Unknown","callers":"muse;varscan2"}
{"X1":"235","Hugo_Symbol":"OR2W3","Entrez_Gene_Id":343171,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr1","Start_Position":247896505,"End_Position":247896505,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"T","Tumor_Sample_Barcode":"TCGA-78-8662-01A-11D-2393-08","Matched_Norm_Sample_Barcode":"TCGA-78-8662-10A-01D-2393-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"30a18e06-a219-42fb-934d-05dab59924d2","Matched_Norm_Sample_UUID":"9ba38ffb-4d0d-46f6-ac56-8eeb499610cc","HGVSc":"c.919G>T","HGVSp":"p.Gly307Trp","HGVSp_Short":"p.G307W","Transcript_ID":"ENST00000360358","Exon_Number":"1/1","t_depth":39,"t_ref_count":2,"t_alt_count":37,"n_depth":63,"all_effects":"OR2W3,missense_variant,p.G307W,ENST00000360358,NM_001001957.2,c.919G>T,MODERATE,YES,tolerated(0.26),benign(0.315),1","Allele":"T","Gene":"ENSG00000238243","Feature":"ENST00000360358","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"919/945","CDS_position":"919/945","Protein_position":"307/314","Amino_acids":"G/W","Codons":"Ggg/Tgg","Existing_variation":"COSV64458208","TRANSCRIPT_STRAND":1,"SYMBOL":"OR2W3","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:15021","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS31099.1","ENSP":"ENSP00000353516","SWISSPROT":"Q7Z3T1.127","UNIPARC":"UPI0000061EA8","RefSeq":"NM_001001957.2","MANE":"NM_001001957.2","APPRIS":"P1","SIFT":"tolerated(0.26)","PolyPhen":"benign(0.315)","EXON":"1/1","DOMAINS":"Gene3D:1.20.1070.10;Pfam:PF13853;PANTHER:PTHR26453;PANTHER:PTHR26453:SF223;Superfamily:SSF81321;Low_complexity_(Seg):seg","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","PHENO":"1","CONTEXT":"TTCTGGGGAAG","tumor_bam_uuid":"a219922f-d967-4bb8-8215-2d8c7b5f9967","normal_bam_uuid":"def870a2-bbc3-4e7b-a8f8-1fb10a2c7ffc","case_id":"16e64a1e-08b0-4c27-8c69-fa64551f8ca4","COSMIC":"COSM354951","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"385","Hugo_Symbol":"OR52B2","Entrez_Gene_Id":255725,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr11","Start_Position":6169467,"End_Position":6169467,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"T","Tumor_Sample_Barcode":"TCGA-91-8499-01A-11D-2393-08","Matched_Norm_Sample_Barcode":"TCGA-91-8499-10A-01D-2393-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"8ad9a3e2-9456-4bea-8ee9-50f9ebad837e","Matched_Norm_Sample_UUID":"7ffc6e72-c5aa-41dc-b966-6a8d40bd9367","HGVSc":"c.860C>A","HGVSp":"p.Pro287Gln","HGVSp_Short":"p.P287Q","Transcript_ID":"ENST00000530810","Exon_Number":"1/1","t_depth":66,"t_ref_count":24,"t_alt_count":42,"n_depth":91,"all_effects":"OR52B2,missense_variant,p.P287Q,ENST00000530810,NM_001004052.1,c.860C>A,MODERATE,YES,deleterious(0),probably_damaging(1),-1;AC022762.1,intron_variant,,ENST00000529961,,n.286+15824C>A,MODIFIER,YES,,,-1","Allele":"T","Gene":"ENSG00000255307","Feature":"ENST00000530810","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"942/1079","CDS_position":"860/972","Protein_position":"287/323","Amino_acids":"P/Q","Codons":"cCa/cAa","Existing_variation":"COSV101603945","TRANSCRIPT_STRAND":-1,"SYMBOL":"OR52B2","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:15207","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS53598.1","ENSP":"ENSP00000432011","SWISSPROT":"Q96RD2.145","UNIPARC":"UPI000004B212","RefSeq":"NM_001004052.1","APPRIS":"P1","SIFT":"deleterious(0)","PolyPhen":"probably_damaging(1)","EXON":"1/1","DOMAINS":"Gene3D:1.20.1070.10;Pfam:PF13853;Prints:PR00237;Prints:PR00245;PROSITE_profiles:PS50262;PANTHER:PTHR26450;PANTHER:PTHR26450:SF151;Superfamily:SSF81321;Transmembrane_helices:TMhelix;CDD:cd15221","SOMATIC":"1","IMPACT":"MODERATE","VARIANT_CLASS":"SNV","PHENO":"1","CONTEXT":"GCATTGGTGGC","tumor_bam_uuid":"6bdebfb9-161a-4c1d-a7c9-69fe5092c8d1","normal_bam_uuid":"44c1b3d3-681a-4ecb-9e7b-7a3fc6fc1080","case_id":"54480f58-7e63-4aed-a116-c2c2252e8364","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"25","Hugo_Symbol":"CSMD1","Entrez_Gene_Id":64478,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr8","Start_Position":3753959,"End_Position":3753959,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"A","dbSNP_RS":"rs573237339","Tumor_Sample_Barcode":"TCGA-99-8032-01A-11D-2238-08","Matched_Norm_Sample_Barcode":"TCGA-99-8032-10A-01D-2238-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"786ce01c-7fa6-45de-b942-750d265d0430","Matched_Norm_Sample_UUID":"1d500b69-b176-4d0e-acb3-1603dea479c5","HGVSc":"c.902G>T","HGVSp":"p.Arg301Leu","HGVSp_Short":"p.R301L","Transcript_ID":"ENST00000520002","Exon_Number":"6/71","t_depth":41,"t_ref_count":32,"t_alt_count":9,"n_depth":56,"all_effects":"CSMD1,missense_variant,p.R301L,ENST00000635120,NM_033225.6,c.902G>T,MODERATE,,deleterious(0.01),possibly_damaging(0.614),-1;CSMD1,missense_variant,p.R163L,ENST00000537824,,c.488G>T,MODERATE,,deleterious(0.02),possibly_damaging(0.614),-1;CSMD1,missense_variant,p.R301L,ENST00000520002,,c.902G>T,MODERATE,YES,deleterious(0.01),possibly_damaging(0.733),-1;CSMD1,missense_variant,p.R301L,ENST00000602557,,c.902G>T,MODERATE,,deleterious(0.01),possibly_damaging(0.733),-1;CSMD1,missense_variant,p.R301L,ENST00000400186,,c.902G>T,MODERATE,,deleterious(0.01),possibly_damaging(0.747),-1;CSMD1,missense_variant,p.R301L,ENST00000602723,,c.902G>T,MODERATE,,deleterious(0.01),possibly_damaging(0.747),-1","Allele":"A","Gene":"ENSG00000183117","Feature":"ENST00000520002","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"1458/11740","CDS_position":"902/10698","Protein_position":"301/3565","Amino_acids":"R/L","Codons":"cGa/cTa","Existing_variation":"rs573237339;COSV68198917","TRANSCRIPT_STRAND":-1,"SYMBOL":"CSMD1","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:14026","BIOTYPE":"protein_coding","CANONICAL":"YES","ENSP":"ENSP00000430733","TREMBL":"E5RIG2.77","UNIPARC":"UPI00015D46BB","APPRIS":"A2","SIFT":"deleterious(0.01)","PolyPhen":"possibly_damaging(0.733)","EXON":"6/71","DOMAINS":"Gene3D:2.60.120.290;Pfam:PF00431;PROSITE_profiles:PS01180;PANTHER:PTHR45656;PANTHER:PTHR45656:SF3;SMART:SM00042;Superfamily:SSF49854;CDD:cd00041","gnomAD_AF":"4.014e-06","gnomAD_AFR_AF":"0","gnomAD_AMR_AF":"0","gnomAD_ASJ_AF":"0","gnomAD_EAS_AF":"0","gnomAD_FIN_AF":"0","gnomAD_NFE_AF":"8.855e-06","gnomAD_OTH_AF":"0","gnomAD_SAS_AF":"0","MAX_AF":"8.855e-06","MAX_AF_POPS":"gnomAD_NFE","SOMATIC":"0;1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":5,"PHENO":"0;1","CONTEXT":"TGCGTCGGTGG","tumor_bam_uuid":"2d10a7d3-630d-468b-84fe-653faef1f262","normal_bam_uuid":"c7ced99d-9586-40ec-9caf-edb7e41fddb8","case_id":"7e83f9dd-b038-497b-a113-a55605398b7b","COSMIC":"COSM6181047;COSM6181048;COSM6181049","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"115","Hugo_Symbol":"CDH10","Entrez_Gene_Id":1008,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr5","Start_Position":24491636,"End_Position":24491636,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"C","Tumor_Sample_Barcode":"TCGA-55-8614-01A-11D-2393-08","Matched_Norm_Sample_Barcode":"TCGA-55-8614-10A-01D-2393-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"13c76fbd-8c92-42d6-9e33-61eea0723d18","Matched_Norm_Sample_UUID":"79f016df-8ac4-48fb-93eb-777403f6182c","HGVSc":"c.1816C>G","HGVSp":"p.Pro606Ala","HGVSp_Short":"p.P606A","Transcript_ID":"ENST00000264463","Exon_Number":"11/12","t_depth":291,"t_ref_count":265,"t_alt_count":26,"n_depth":130,"all_effects":"CDH10,missense_variant,p.P606A,ENST00000264463,NM_001317222.1&NM_001362460.1&NM_001317224.2&NM_006727.5,c.1816C>G,MODERATE,YES,tolerated(0.24),benign(0.177),-1;CDH10,non_coding_transcript_exon_variant,,ENST00000502921,,n.607C>G,MODIFIER,,,,-1;CDH10,3_prime_UTR_variant,,ENST00000510477,,c.*368C>G,MODIFIER,,,,-1;CDH10,non_coding_transcript_exon_variant,,ENST00000503958,,n.339C>G,MODIFIER,,,,-1","Allele":"C","Gene":"ENSG00000040731","Feature":"ENST00000264463","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"2324/3438","CDS_position":"1816/2367","Protein_position":"606/788","Amino_acids":"P/A","Codons":"Cct/Gct","Existing_variation":"COSV100050894;COSV52581136;COSV52592268","TRANSCRIPT_STRAND":-1,"SYMBOL":"CDH10","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:1749","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS3892.1","ENSP":"ENSP00000264463","SWISSPROT":"Q9Y6N8.161","TREMBL":"X5D8X5.51","UNIPARC":"UPI0000167B7B","RefSeq":"NM_001317222.1;NM_001362460.1;NM_001317224.2;NM_006727.5","MANE":"NM_006727.5","APPRIS":"P1","SIFT":"tolerated(0.24)","PolyPhen":"benign(0.177)","EXON":"11/12","DOMAINS":"PANTHER:PTHR24027;PANTHER:PTHR24027:SF290","SOMATIC":"1;1;1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1;1;1","GENE_PHENO":"1","CONTEXT":"GGCAGGGAGGA","tumor_bam_uuid":"6fd0a81f-1edf-432a-980f-f8487b706e03","normal_bam_uuid":"3f47c7cb-631a-4cdf-9f55-27cf619b1cd9","case_id":"a8de1beb-6296-44eb-bd63-c603f70faaf3","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2"}
{"X1":"278","Hugo_Symbol":"KRTAP10-10","Entrez_Gene_Id":353333,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr21","Start_Position":44637725,"End_Position":44637725,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"T","Tumor_Seq_Allele1":"T","Tumor_Seq_Allele2":"C","dbSNP_RS":"rs782075173","Tumor_Sample_Barcode":"TCGA-17-Z053-01A-01W-0747-08","Matched_Norm_Sample_Barcode":"TCGA-17-Z053-11A-01W-0747-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"2d422986-6e91-4299-b6cf-4076f3706c83","Matched_Norm_Sample_UUID":"8902411b-6bff-49e8-8e1e-0370a773997a","HGVSc":"c.308T>C","HGVSp":"p.Val103Ala","HGVSp_Short":"p.V103A","Transcript_ID":"ENST00000380095","Exon_Number":"1/1","t_depth":187,"t_ref_count":149,"t_alt_count":34,"n_depth":309,"all_effects":"KRTAP10-10,missense_variant,p.V103A,ENST00000380095,NM_181688.3,c.308T>C,MODERATE,YES,tolerated(0.06),benign(0.022),1;TSPEAR,intron_variant,,ENST00000323084,NM_144991.3&NM_001272037.2,c.83-69720A>G,MODIFIER,YES,,,-1;KRTAP10-4,intron_variant,,ENST00000622352,,c.839+12T>C,MODIFIER,,,,1;TSPEAR,intron_variant,,ENST00000642437,,c.*27+52820A>G,MODIFIER,,,,-1","Allele":"C","Gene":"ENSG00000221859","Feature":"ENST00000380095","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"370/1100","CDS_position":"308/756","Protein_position":"103/251","Amino_acids":"V/A","Codons":"gTc/gCc","Existing_variation":"rs782075173","TRANSCRIPT_STRAND":1,"SYMBOL":"KRTAP10-10","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:22972","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS33585.1","ENSP":"ENSP00000369438","SWISSPROT":"P60014.118","UNIPARC":"UPI00001A95B8","RefSeq":"NM_181688.3","MANE":"NM_181688.3","APPRIS":"P1","SIFT":"tolerated(0.06)","PolyPhen":"benign(0.022)","EXON":"1/1","DOMAINS":"PANTHER:PTHR23262;PANTHER:PTHR23262:SF184;Low_complexity_(Seg):seg","gnomAD_AF":"3.983e-06","gnomAD_AFR_AF":"0","gnomAD_AMR_AF":"0","gnomAD_ASJ_AF":"0","gnomAD_EAS_AF":"0","gnomAD_FIN_AF":"0","gnomAD_NFE_AF":"8.808e-06","gnomAD_OTH_AF":"0","gnomAD_SAS_AF":"0","MAX_AF":"8.808e-06","MAX_AF_POPS":"gnomAD_NFE","IMPACT":"MODERATE","VARIANT_CLASS":"SNV","CONTEXT":"GCCCGTCTGCT","tumor_bam_uuid":"1e3dd4fd-83f6-4821-8b12-2677b8d94164","normal_bam_uuid":"83111d36-bc2d-41cb-b631-3013a931df9a","case_id":"2dca3588-51e1-48f7-8c9b-7b7e53c3fb33","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"224","Hugo_Symbol":"E4F1","Entrez_Gene_Id":1877,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr16","Start_Position":2228459,"End_Position":2228459,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"T","dbSNP_RS":"rs1276368344","Tumor_Sample_Barcode":"TCGA-38-4629-01A-02D-1265-08","Matched_Norm_Sample_Barcode":"TCGA-38-4629-11A-01D-1265-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"4797f969-5f4d-4681-9fc5-68f25ba8f4d8","Matched_Norm_Sample_UUID":"c89000a1-93c2-46b3-82b2-f90361e2fc5e","HGVSc":"c.245G>T","HGVSp":"p.Cys82Phe","HGVSp_Short":"p.C82F","Transcript_ID":"ENST00000301727","Exon_Number":"2/14","t_depth":59,"t_ref_count":42,"t_alt_count":17,"n_depth":74,"all_effects":"E4F1,missense_variant,p.C82F,ENST00000301727,NM_004424.5,c.245G>T,MODERATE,YES,deleterious(0),probably_damaging(0.998),1;E4F1,missense_variant,p.C82F,ENST00000564139,NM_001288776.1,c.245G>T,MODERATE,,deleterious(0),probably_damaging(1),1;E4F1,missense_variant,p.C82F,ENST00000565090,NM_001288778.1,c.245G>T,MODERATE,,deleterious(0),probably_damaging(1),1;E4F1,missense_variant,p.C60F,ENST00000565413,,c.179G>T,MODERATE,,deleterious(0),probably_damaging(1),1;E4F1,missense_variant,p.A109S,ENST00000562589,,c.325G>T,MODERATE,,deleterious_low_confidence(0),possibly_damaging(0.578),1;E4F1,non_coding_transcript_exon_variant,,ENST00000569796,,n.67G>T,MODIFIER,,,,1;E4F1,upstream_gene_variant,,ENST00000563643,,,MODIFIER,,,,1","Allele":"T","Gene":"ENSG00000167967","Feature":"ENST00000301727","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"268/2548","CDS_position":"245/2355","Protein_position":"82/784","Amino_acids":"C/F","Codons":"tGc/tTc","Existing_variation":"rs1276368344;COSV100066258;COSV57037813","TRANSCRIPT_STRAND":1,"SYMBOL":"E4F1","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:3121","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS32370.1","ENSP":"ENSP00000301727","SWISSPROT":"Q66K89.160","UNIPARC":"UPI00001AED0F","RefSeq":"NM_004424.5","MANE":"NM_004424.5","APPRIS":"P2","SIFT":"deleterious(0)","PolyPhen":"probably_damaging(0.998)","EXON":"2/14","DOMAINS":"PANTHER:PTHR24408;PANTHER:PTHR24408:SF31","gnomAD_AF":"4.007e-06","gnomAD_AFR_AF":"0","gnomAD_AMR_AF":"0","gnomAD_ASJ_AF":"0","gnomAD_EAS_AF":"0","gnomAD_FIN_AF":"0","gnomAD_NFE_AF":"0","gnomAD_OTH_AF":"0","gnomAD_SAS_AF":"3.268e-05","MAX_AF":"3.268e-05","MAX_AF_POPS":"gnomAD_SAS","SOMATIC":"0;1;1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"0;1;1","CONTEXT":"GGCCTGCCAGC","tumor_bam_uuid":"ef7f6e4b-e2ea-470d-9f75-5c0a0f5c61bb","normal_bam_uuid":"36038ebe-7bc8-496b-8e2a-07a8552d072d","case_id":"127bf818-f7e5-46b5-a9de-39f6d96b8b83","COSMIC":"COSM6078856","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"4","Hugo_Symbol":"PAPPA2","Entrez_Gene_Id":60676,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr1","Start_Position":176671015,"End_Position":176671015,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"G","Tumor_Sample_Barcode":"TCGA-97-8177-01A-11D-2284-08","Matched_Norm_Sample_Barcode":"TCGA-97-8177-10A-01D-2284-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"d0aee258-a42e-4e90-a4e2-cd6a1b437915","Matched_Norm_Sample_UUID":"f9d419fc-603b-44bb-964c-1d80d0dddb6b","HGVSc":"c.2037C>G","HGVSp":"p.Asn679Lys","HGVSp_Short":"p.N679K","Transcript_ID":"ENST00000367662","Exon_Number":"4/23","t_depth":433,"t_ref_count":420,"t_alt_count":13,"n_depth":152,"all_effects":"PAPPA2,missense_variant,p.N679K,ENST00000367662,NM_020318.3,c.2037C>G,MODERATE,YES,deleterious(0),probably_damaging(0.95),1;PAPPA2,missense_variant,p.N679K,ENST00000367661,NM_021936.3,c.2037C>G,MODERATE,,deleterious(0),probably_damaging(0.985),1","Allele":"G","Gene":"ENSG00000116183","Feature":"ENST00000367662","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"3197/9683","CDS_position":"2037/5376","Protein_position":"679/1791","Amino_acids":"N/K","Codons":"aaC/aaG","Existing_variation":"COSV100866916","TRANSCRIPT_STRAND":1,"SYMBOL":"PAPPA2","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:14615","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS41438.1","ENSP":"ENSP00000356634","SWISSPROT":"Q9BXP8.166","UNIPARC":"UPI000004A835","UNIPROT_ISOFORM":"Q9BXP8-1","RefSeq":"NM_020318.3","MANE":"NM_020318.3","APPRIS":"P1","SIFT":"deleterious(0)","PolyPhen":"probably_damaging(0.95)","EXON":"4/23","DOMAINS":"Pfam:PF05572;PANTHER:PTHR46130;PANTHER:PTHR46130:SF1;Superfamily:SSF55486;CDD:cd04275","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","CONTEXT":"CTGAACAGTAC","tumor_bam_uuid":"c0d1758b-3670-476b-802b-3d7f68741429","normal_bam_uuid":"b7b16010-c770-4d7e-848f-d3249eae18b4","case_id":"09078761-1c14-4d01-8e15-535c19a9b0f9","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2"}
{"X1":"280","Hugo_Symbol":"NDST4","Entrez_Gene_Id":64579,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr4","Start_Position":114935333,"End_Position":114935333,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"A","Tumor_Seq_Allele1":"A","Tumor_Seq_Allele2":"T","Tumor_Sample_Barcode":"TCGA-55-6987-01A-11D-1945-08","Matched_Norm_Sample_Barcode":"TCGA-55-6987-11A-01D-1945-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"375c7a6d-607f-40f4-8e3a-2352150ba073","Matched_Norm_Sample_UUID":"2c93f910-2aee-45ab-9b50-66d0f1797df3","HGVSc":"c.1409T>A","HGVSp":"p.Val470Asp","HGVSp_Short":"p.V470D","Transcript_ID":"ENST00000264363","Exon_Number":"6/14","t_depth":28,"t_ref_count":23,"t_alt_count":5,"n_depth":31,"all_effects":"NDST4,missense_variant,p.V91D,ENST00000613194,,c.272T>A,MODERATE,,deleterious(0),probably_damaging(0.996),-1;NDST4,missense_variant,p.V470D,ENST00000264363,NM_022569.3,c.1409T>A,MODERATE,YES,deleterious(0),probably_damaging(0.996),-1;NDST4,missense_variant,p.V91D,ENST00000504854,,c.272T>A,MODERATE,,deleterious(0),probably_damaging(0.996),-1;NDST4,splice_region_variant,,ENST00000514570,,n.949T>A,LOW,,,,-1","Allele":"T","Gene":"ENSG00000138653","Feature":"ENST00000264363","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant;splice_region_variant","cDNA_position":"1832/3095","CDS_position":"1409/2619","Protein_position":"470/872","Amino_acids":"V/D","Codons":"gTc/gAc","Existing_variation":"COSV52114040","TRANSCRIPT_STRAND":-1,"SYMBOL":"NDST4","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:20779","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS3706.1","ENSP":"ENSP00000264363","SWISSPROT":"Q9H3R1.139","UNIPARC":"UPI000006CED7","UNIPROT_ISOFORM":"Q9H3R1-1","RefSeq":"NM_022569.3","MANE":"NM_022569.3","APPRIS":"P1","SIFT":"deleterious(0)","PolyPhen":"probably_damaging(0.996)","EXON":"6/14","DOMAINS":"Pfam:PF12062;PANTHER:PTHR10605;PANTHER:PTHR10605:SF45","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","CONTEXT":"GGAGGACCTGA","tumor_bam_uuid":"29e776a7-cc54-43cd-a138-b35492a51a4d","normal_bam_uuid":"f703d71e-8b30-420c-8738-97511680818c","case_id":"2efc156c-464a-4c2f-a854-39fefe32081c","COSMIC":"COSM6166192","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"195","Hugo_Symbol":"HEATR1","Entrez_Gene_Id":55127,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr1","Start_Position":236582843,"End_Position":236582843,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"T","Tumor_Seq_Allele1":"T","Tumor_Seq_Allele2":"C","Tumor_Sample_Barcode":"TCGA-05-4250-01A-01D-1105-08","Matched_Norm_Sample_Barcode":"TCGA-05-4250-10A-01D-1105-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"41c4fe84-8beb-4a3a-920c-e74c7edd2182","Matched_Norm_Sample_UUID":"15c63561-c425-49e3-8d90-00537cfa567f","HGVSc":"c.2455A>G","HGVSp":"p.Lys819Glu","HGVSp_Short":"p.K819E","Transcript_ID":"ENST00000366582","Exon_Number":"19/45","t_depth":126,"t_ref_count":61,"t_alt_count":64,"n_depth":97,"all_effects":"HEATR1,missense_variant,p.K819E,ENST00000366582,NM_018072.6,c.2455A>G,MODERATE,YES,tolerated(0.63),benign(0),-1;HEATR1,missense_variant,p.K819E,ENST00000366581,,c.2455A>G,MODERATE,,tolerated(0.8),benign(0),-1","Allele":"C","Gene":"ENSG00000119285","Feature":"ENST00000366582","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"2582/8459","CDS_position":"2455/6435","Protein_position":"819/2144","Amino_acids":"K/E","Codons":"Aaa/Gaa","Existing_variation":"COSV63979794","TRANSCRIPT_STRAND":-1,"SYMBOL":"HEATR1","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:25517","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS31066.1","ENSP":"ENSP00000355541","SWISSPROT":"Q9H583.177","UNIPARC":"UPI000013D4D4","RefSeq":"NM_018072.6","MANE":"NM_018072.6","APPRIS":"P1","SIFT":"tolerated(0.63)","PolyPhen":"benign(0)","EXON":"19/45","DOMAINS":"PANTHER:PTHR13457","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":5,"PHENO":"1","CONTEXT":"TTCTTTCAGTT","tumor_bam_uuid":"8fccf2a5-99c1-4eb9-9916-46a140d58082","normal_bam_uuid":"7913e85c-9a75-4668-a20c-8db515f84ef0","case_id":"f98ecd8a-b878-4f53-b911-20cd8e17281c","COSMIC":"COSM6062109","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"270","Hugo_Symbol":"FRAS1","Entrez_Gene_Id":80144,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr4","Start_Position":78519476,"End_Position":78519476,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"A","dbSNP_RS":"novel","Tumor_Sample_Barcode":"TCGA-55-7724-01A-11D-2167-08","Matched_Norm_Sample_Barcode":"TCGA-55-7724-10A-01D-2167-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"7bf4a4b3-afb8-4494-b749-7138b223fc6f","Matched_Norm_Sample_UUID":"b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2","HGVSc":"c.10535G>A","HGVSp":"p.Arg3512Lys","HGVSp_Short":"p.R3512K","Transcript_ID":"ENST00000512123","Exon_Number":"67/74","t_depth":212,"t_ref_count":199,"t_alt_count":13,"n_depth":219,"all_effects":"FRAS1,missense_variant,p.R3512K,ENST00000512123,NM_025074.7,c.10535G>A,MODERATE,YES,deleterious(0.04),probably_damaging(0.996),1","Allele":"A","Gene":"ENSG00000138759","Feature":"ENST00000512123","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"11222/15871","CDS_position":"10535/12039","Protein_position":"3512/4012","Amino_acids":"R/K","Codons":"aGa/aAa","TRANSCRIPT_STRAND":1,"SYMBOL":"FRAS1","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:19185","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS54771.1","ENSP":"ENSP00000422834","SWISSPROT":"Q86XX4.163","UNIPARC":"UPI000021D4C2","UNIPROT_ISOFORM":"Q86XX4-2","RefSeq":"NM_025074.7","MANE":"NM_025074.7","APPRIS":"P1","SIFT":"deleterious(0.04)","PolyPhen":"probably_damaging(0.996)","EXON":"67/74","DOMAINS":"PANTHER:PTHR45739;PANTHER:PTHR45739:SF1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":5,"GENE_PHENO":"1","CONTEXT":"CTGGAGAACAG","tumor_bam_uuid":"7034381f-06f2-4437-b764-e497422841b5","normal_bam_uuid":"fdfb3c83-5767-43f4-bdfd-015e99a952d2","case_id":"294cb595-0907-44c7-bbef-985a27c1e6e2","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2"}
{"X1":"342","Hugo_Symbol":"RBM47","Entrez_Gene_Id":54502,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr4","Start_Position":40432739,"End_Position":40432739,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"T","Tumor_Seq_Allele1":"T","Tumor_Seq_Allele2":"C","dbSNP_RS":"rs751114219","Tumor_Sample_Barcode":"TCGA-O1-A52J-01A-11D-A25L-08","Matched_Norm_Sample_Barcode":"TCGA-O1-A52J-10A-01D-A25L-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"a1b08a71-c375-42f5-be67-7f97388bc854","Matched_Norm_Sample_UUID":"b8539521-624c-4d09-9f98-1629d07ca2d1","HGVSc":"c.1454A>G","HGVSp":"p.Asp485Gly","HGVSp_Short":"p.D485G","Transcript_ID":"ENST00000295971","Exon_Number":"6/7","t_depth":43,"t_ref_count":26,"t_alt_count":16,"n_depth":55,"all_effects":"RBM47,missense_variant,p.D485G,ENST00000295971,NM_001098634.2,c.1454A>G,MODERATE,YES,deleterious_low_confidence(0),benign(0.026),-1;RBM47,missense_variant,p.D485G,ENST00000381793,NM_001371113.1,c.1454A>G,MODERATE,,deleterious_low_confidence(0),benign(0.026),-1;RBM47,missense_variant,p.D416G,ENST00000381795,NM_019027.4,c.1247A>G,MODERATE,,tolerated_low_confidence(1),benign(0.173),-1;RBM47,missense_variant,p.D447G,ENST00000514014,NM_001371114.1,c.1340A>G,MODERATE,,deleterious_low_confidence(0),benign(0.026),-1;RBM47,non_coding_transcript_exon_variant,,ENST00000515809,,n.193A>G,MODIFIER,,,,-1;RBM47,3_prime_UTR_variant,,ENST00000510871,,c.*510A>G,MODIFIER,,,,-1","Allele":"C","Gene":"ENSG00000163694","Feature":"ENST00000295971","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"2162/5114","CDS_position":"1454/1782","Protein_position":"485/593","Amino_acids":"D/G","Codons":"gAc/gGc","Existing_variation":"rs751114219;COSV99921007","TRANSCRIPT_STRAND":-1,"SYMBOL":"RBM47","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:30358","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS43223.1","ENSP":"ENSP00000295971","SWISSPROT":"A0AV96.113","UNIPARC":"UPI000020BBEC","UNIPROT_ISOFORM":"A0AV96-1","RefSeq":"NM_001098634.2","MANE":"NM_001098634.2","APPRIS":"P4","SIFT":"deleterious_low_confidence(0)","PolyPhen":"benign(0.026)","EXON":"6/7","DOMAINS":"PANTHER:PTHR21245;PANTHER:PTHR21245:SF6;TIGRFAM:TIGR01648","SOMATIC":"0;1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":5,"PHENO":"0;1","CONTEXT":"CTGGGTCTGGC","tumor_bam_uuid":"67737893-f360-4bb5-93bf-33d7a7f1fa87","normal_bam_uuid":"c8045842-7180-44db-9e9f-4a1f757462d8","case_id":"42432463-8e92-4f25-b72a-f03953527aa5","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"584","Hugo_Symbol":"ZFP36L1","Entrez_Gene_Id":677,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr14","Start_Position":68789883,"End_Position":68789883,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-69-8254-01A-11D-2284-08","Matched_Norm_Sample_Barcode":"TCGA-69-8254-10A-01D-2284-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"c5cc36f5-d3cd-4a7c-8f1d-e41e10ed9015","Matched_Norm_Sample_UUID":"5f2e9acb-855e-40ea-9552-7d9f1389e429","HGVSc":"c.667C>T","HGVSp":"p.Pro223Ser","HGVSp_Short":"p.P223S","Transcript_ID":"ENST00000336440","Exon_Number":"2/3","t_depth":129,"t_ref_count":99,"t_alt_count":29,"n_depth":147,"all_effects":"ZFP36L1,missense_variant,p.P223S,ENST00000336440,NM_001244698.1,c.667C>T,MODERATE,YES,tolerated(0.06),probably_damaging(0.998),-1;ZFP36L1,missense_variant,p.P223S,ENST00000439696,NM_004926.4,c.667C>T,MODERATE,,tolerated(0.06),probably_damaging(0.998),-1;ZFP36L1,3_prime_UTR_variant,,ENST00000555997,,c.*605C>T,MODIFIER,,,,-1;ZFP36L1,downstream_gene_variant,,ENST00000553375,NM_001244701.1,,MODIFIER,,,,-1;ZFP36L1,downstream_gene_variant,,ENST00000557022,,,MODIFIER,,,,-1;ZFP36L1,downstream_gene_variant,,ENST00000557086,,,MODIFIER,,,,-1","Allele":"A","Gene":"ENSG00000185650","Feature":"ENST00000336440","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"2465/3026","CDS_position":"667/1017","Protein_position":"223/338","Amino_acids":"P/S","Codons":"Ccc/Tcc","Existing_variation":"COSV100322705","TRANSCRIPT_STRAND":-1,"SYMBOL":"ZFP36L1","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:1107","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS9791.1","ENSP":"ENSP00000337386","SWISSPROT":"Q07352.184","TREMBL":"A0A024R658.51","UNIPARC":"UPI0000136FBC","RefSeq":"NM_001244698.1","APPRIS":"P1","SIFT":"tolerated(0.06)","PolyPhen":"probably_damaging(0.998)","EXON":"2/3","DOMAINS":"Low_complexity_(Seg):seg","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":2,"PHENO":"1","CONTEXT":"CGTGGGGCTGT","tumor_bam_uuid":"8073a4a4-1416-4ed4-b640-20a02d05bd15","normal_bam_uuid":"cec487bb-1c31-442c-b82a-019be25c37de","case_id":"f0c94f68-bfd9-45cb-b4fd-8bb1ae4e9a2b","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"509","Hugo_Symbol":"PPP1R7","Entrez_Gene_Id":5510,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr2","Start_Position":241153517,"End_Position":241153517,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"T","Tumor_Sample_Barcode":"TCGA-44-2668-01A-01D-A271-08","Matched_Norm_Sample_Barcode":"TCGA-44-2668-10A-01D-1489-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"409bc528-4154-4680-bfeb-8f004f136a25","Matched_Norm_Sample_UUID":"bf763792-789b-47d2-b4fd-1dbcaf7467ab","HGVSc":"c.94G>T","HGVSp":"p.Gly32Trp","HGVSp_Short":"p.G32W","Transcript_ID":"ENST00000234038","Exon_Number":"2/10","t_depth":86,"t_ref_count":76,"t_alt_count":10,"n_depth":178,"all_effects":"PPP1R7,missense_variant,p.G32W,ENST00000234038,NM_002712.3,c.94G>T,MODERATE,YES,deleterious(0.01),possibly_damaging(0.868),1;PPP1R7,missense_variant,p.G32W,ENST00000407025,,c.94G>T,MODERATE,,deleterious(0.01),possibly_damaging(0.868),1;PPP1R7,missense_variant,p.G13W,ENST00000450367,,c.37G>T,MODERATE,,tolerated(0.11),probably_damaging(0.938),1;PPP1R7,missense_variant,p.G32W,ENST00000404405,,c.94G>T,MODERATE,,deleterious(0),probably_damaging(0.946),1;PPP1R7,missense_variant,p.G16W,ENST00000438799,NM_001282412.1,c.46G>T,MODERATE,,deleterious(0.01),possibly_damaging(0.908),1;PPP1R7,missense_variant,p.G32W,ENST00000406106,NM_001282410.1,c.94G>T,MODERATE,,deleterious(0),probably_damaging(0.975),1;PPP1R7,missense_variant,p.G32W,ENST00000439916,,c.94G>T,MODERATE,,deleterious(0),probably_damaging(0.986),1;PPP1R7,missense_variant,p.G41W,ENST00000427172,,c.121G>T,MODERATE,,deleterious(0),probably_damaging(1),1;PPP1R7,intron_variant,,ENST00000272983,NM_001282409.1,c.52+2970G>T,MODIFIER,,,,1;PPP1R7,intron_variant,,ENST00000401987,NM_001282411.1,c.52+2970G>T,MODIFIER,,,,1;PPP1R7,intron_variant,,ENST00000402734,NM_001282414.1,c.4+3809G>T,MODIFIER,,,,1;PPP1R7,intron_variant,,ENST00000423280,NM_001282413.1,c.4+3809G>T,MODIFIER,,,,1;PASK,upstream_gene_variant,,ENST00000234040,NM_001252122.2&NM_015148.4,,MODIFIER,,,,-1;PASK,upstream_gene_variant,,ENST00000358649,NM_001252119.2,,MODIFIER,YES,,,-1;PASK,upstream_gene_variant,,ENST00000403638,NM_001252124.2,,MODIFIER,,,,-1;PASK,upstream_gene_variant,,ENST00000405260,,,MODIFIER,,,,-1;PASK,upstream_gene_variant,,ENST00000415234,,,MODIFIER,,,,-1;PASK,upstream_gene_variant,,ENST00000452907,,,MODIFIER,,,,-1;PASK,upstream_gene_variant,,ENST00000544142,NM_001252120.1,,MODIFIER,,,,-1;PPP1R7,upstream_gene_variant,,ENST00000467159,,,MODIFIER,,,,1;PPP1R7,upstream_gene_variant,,ENST00000485630,,,MODIFIER,,,,1;PPP1R7,non_coding_transcript_exon_variant,,ENST00000473017,,n.116G>T,MODIFIER,,,,1;PPP1R7,non_coding_transcript_exon_variant,,ENST00000498170,,n.107G>T,MODIFIER,,,,1;PPP1R7,intron_variant,,ENST00000493374,,n.64+2970G>T,MODIFIER,,,,1;PASK,upstream_gene_variant,,ENST00000437780,,,MODIFIER,,,,-1","Allele":"T","Gene":"ENSG00000115685","Feature":"ENST00000234038","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"123/1941","CDS_position":"94/1083","Protein_position":"32/360","Amino_acids":"G/W","Codons":"Ggg/Tgg","Existing_variation":"COSV52145477","TRANSCRIPT_STRAND":1,"SYMBOL":"PPP1R7","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:9295","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS2546.1","ENSP":"ENSP00000234038","SWISSPROT":"Q15435.185","TREMBL":"A0A140VK83.29","UNIPARC":"UPI000006E65A","UNIPROT_ISOFORM":"Q15435-1","RefSeq":"NM_002712.3","MANE":"NM_002712.3","APPRIS":"P1","SIFT":"deleterious(0.01)","PolyPhen":"possibly_damaging(0.868)","EXON":"2/10","DOMAINS":"PDB-ENSP_mappings:6hkw.A;PDB-ENSP_mappings:6hkw.B;PDB-ENSP_mappings:6hkw.C;PDB-ENSP_mappings:6hkw.D;PDB-ENSP_mappings:6hkw.E;PANTHER:PTHR45973;PANTHER:PTHR45973:SF17;MobiDB_lite:mobidb-lite;MobiDB_lite:mobidb-lite;Low_complexity_(Seg):seg","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","CONTEXT":"AAGAAGGGAAG","tumor_bam_uuid":"635f4882-9fd3-4ba4-a6bb-c2e04a91e31d","normal_bam_uuid":"2af16af1-1909-41f8-a008-d1e99138ed46","case_id":"bab43415-d413-40be-a4c0-2c40a52afe6a","COSMIC":"COSM6091178","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"30","Hugo_Symbol":"FBXO40","Entrez_Gene_Id":51725,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr3","Start_Position":121622218,"End_Position":121622218,"Strand":"+","Variant_Classification":"Silent","Variant_Type":"SNP","Reference_Allele":"T","Tumor_Seq_Allele1":"T","Tumor_Seq_Allele2":"C","Tumor_Sample_Barcode":"TCGA-64-1679-01A-21D-2063-08","Matched_Norm_Sample_Barcode":"TCGA-64-1679-10A-01D-2063-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"529d953a-880b-4dd4-a6aa-c09c8c89d980","Matched_Norm_Sample_UUID":"510b548e-4350-45c8-889d-8930c2f20f9c","HGVSc":"c.789T>C","HGVSp":"p.Ala263=","HGVSp_Short":"p.A263=","Transcript_ID":"ENST00000338040","Exon_Number":"3/4","t_depth":46,"t_ref_count":36,"t_alt_count":10,"n_depth":43,"all_effects":"FBXO40,synonymous_variant,p.A263=,ENST00000338040,NM_016298.4,c.789T>C,LOW,YES,,,1","Allele":"C","Gene":"ENSG00000163833","Feature":"ENST00000338040","Feature_type":"Transcript","One_Consequence":"synonymous_variant","Consequence":"synonymous_variant","cDNA_position":"943/5669","CDS_position":"789/2130","Protein_position":"263/709","Amino_acids":"A","Codons":"gcT/gcC","Existing_variation":"COSV57526291","TRANSCRIPT_STRAND":1,"SYMBOL":"FBXO40","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:29816","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS33835.1","ENSP":"ENSP00000337510","SWISSPROT":"Q9UH90.144","UNIPARC":"UPI000020A046","RefSeq":"NM_016298.4","MANE":"NM_016298.4","APPRIS":"P1","EXON":"3/4","DOMAINS":"MobiDB_lite:mobidb-lite;MobiDB_lite:mobidb-lite;PANTHER:PTHR15933;PANTHER:PTHR15933:SF1","SOMATIC":"1","IMPACT":"LOW","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","CONTEXT":"GGCGCTCCCAA","tumor_bam_uuid":"e84ea93a-079b-47a6-95f7-e533bcf9cd35","normal_bam_uuid":"a479eb9f-9405-43ee-8e98-fae7dbab5b4e","case_id":"81a0b2ff-a3d3-41bb-9ce6-765e6ae894af","COSMIC":"COSM6163027","hotspot":"N","RNA_Support":"Unknown","callers":"muse;varscan2"}
{"X1":"521","Hugo_Symbol":"VIP","Entrez_Gene_Id":7432,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr6","Start_Position":152752239,"End_Position":152752239,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"T","Tumor_Sample_Barcode":"TCGA-55-8507-01A-11D-2393-08","Matched_Norm_Sample_Barcode":"TCGA-55-8507-10A-01D-2393-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"7f80e586-a01e-4500-8669-3ab11653306a","Matched_Norm_Sample_UUID":"685bf1a3-c398-458d-9906-7251883d89dd","HGVSc":"c.62C>T","HGVSp":"p.Ser21Leu","HGVSp_Short":"p.S21L","Transcript_ID":"ENST00000367244","Exon_Number":"2/7","t_depth":77,"t_ref_count":53,"t_alt_count":23,"n_depth":109,"all_effects":"VIP,missense_variant,p.S21L,ENST00000367243,NM_194435.3,c.62C>T,MODERATE,,tolerated(0.08),benign(0.039),1;VIP,missense_variant,p.S21L,ENST00000367244,NM_003381.4,c.62C>T,MODERATE,YES,tolerated(0.07),benign(0.018),1;VIP,upstream_gene_variant,,ENST00000431366,,,MODIFIER,,,,1;LINC02840,downstream_gene_variant,,ENST00000666093,,,MODIFIER,YES,,,-1","Allele":"T","Gene":"ENSG00000146469","Feature":"ENST00000367244","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"235/1580","CDS_position":"62/513","Protein_position":"21/170","Amino_acids":"S/L","Codons":"tCa/tTa","Existing_variation":"COSV100923944;COSV65889398","TRANSCRIPT_STRAND":1,"SYMBOL":"VIP","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:12693","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS5240.1","ENSP":"ENSP00000356213","SWISSPROT":"P01282.196","UNIPARC":"UPI000003B343","UNIPROT_ISOFORM":"P01282-1","RefSeq":"NM_003381.4","MANE":"NM_003381.4","APPRIS":"P4","SIFT":"tolerated(0.07)","PolyPhen":"benign(0.018)","EXON":"2/7","DOMAINS":"Low_complexity_(Seg):seg;Transmembrane_helices:TMhelix;Cleavage_site_(Signalp):SignalP-noTM;PANTHER:PTHR11213:SF5;PANTHER:PTHR11213","SOMATIC":"1;1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1;1","GENE_PHENO":"1","CONTEXT":"CTTCTCACAGA","tumor_bam_uuid":"1ca7c104-a69e-435d-82c6-ea5c0f8c3e30","normal_bam_uuid":"091dbcd7-456a-42df-92a7-881df7997691","case_id":"d63c028b-b6d3-49ce-b63e-261eed3b86df","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"153","Hugo_Symbol":"VAMP4","Entrez_Gene_Id":8674,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr1","Start_Position":171706374,"End_Position":171706374,"Strand":"+","Variant_Classification":"Silent","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"A","dbSNP_RS":"novel","Tumor_Sample_Barcode":"TCGA-17-Z031-01A-01W-0746-08","Matched_Norm_Sample_Barcode":"TCGA-17-Z031-11A-01W-0746-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"6516244a-dfd8-4568-a2d2-7556cbea52b1","Matched_Norm_Sample_UUID":"691dc2f3-35d7-4b83-a51a-49ed1d4c2a07","HGVSc":"c.390G>T","HGVSp":"p.Val130=","HGVSp_Short":"p.V130=","Transcript_ID":"ENST00000236192","Exon_Number":"7/8","t_depth":220,"t_ref_count":82,"t_alt_count":138,"n_depth":108,"all_effects":"VAMP4,synonymous_variant,p.V130=,ENST00000236192,NM_003762.5,c.390G>T,LOW,YES,,,-1;VAMP4,synonymous_variant,p.V129=,ENST00000367740,NM_001185127.2,c.387G>T,LOW,,,,-1;VAMP4,non_coding_transcript_exon_variant,,ENST00000482519,,n.549G>T,MODIFIER,,,,-1;VAMP4,synonymous_variant,p.V130=,ENST00000474047,,c.390G>T,LOW,,,,-1","Allele":"A","Gene":"ENSG00000117533","Feature":"ENST00000236192","Feature_type":"Transcript","One_Consequence":"synonymous_variant","Consequence":"synonymous_variant","cDNA_position":"595/4977","CDS_position":"390/426","Protein_position":"130/141","Amino_acids":"V","Codons":"gtG/gtT","TRANSCRIPT_STRAND":-1,"SYMBOL":"VAMP4","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:12645","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS1298.1","ENSP":"ENSP00000236192","SWISSPROT":"O75379.182","TREMBL":"Q6IAZ3.139","UNIPARC":"UPI00000015F3","UNIPROT_ISOFORM":"O75379-1","RefSeq":"NM_003762.5","MANE":"NM_003762.5","APPRIS":"P4","EXON":"7/8","DOMAINS":"Gene3D:1.20.5.110;Pfam:PF00957;Prints:PR00219;PANTHER:PTHR46897;Transmembrane_helices:TMhelix;Low_complexity_(Seg):seg","IMPACT":"LOW","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"CONTEXT":"ATAATCACTAG","tumor_bam_uuid":"874092f9-5c52-4298-9651-0418633660b1","normal_bam_uuid":"bb97a9eb-2775-40c1-aecf-aa7e5b83a8f0","case_id":"c43c8eea-7014-4abe-b805-397a9062d3e0","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"121","Hugo_Symbol":"C20orf96","Entrez_Gene_Id":140680,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr20","Start_Position":277268,"End_Position":277268,"Strand":"+","Variant_Classification":"Silent","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-97-8547-01A-11D-2393-08","Matched_Norm_Sample_Barcode":"TCGA-97-8547-10A-01D-2393-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"af407765-5f62-4e41-877d-43f2ee3b7b52","Matched_Norm_Sample_UUID":"9f7fa431-82bf-43de-9686-8a219762c5d2","HGVSc":"c.681C>T","HGVSp":"p.Ser227=","HGVSp_Short":"p.S227=","Transcript_ID":"ENST00000360321","Exon_Number":"7/11","t_depth":285,"t_ref_count":208,"t_alt_count":77,"n_depth":255,"all_effects":"C20orf96,synonymous_variant,p.S226=,ENST00000400269,NM_080571.1,c.678C>T,LOW,,,,-1;C20orf96,synonymous_variant,p.S227=,ENST00000360321,NM_153269.3,c.681C>T,LOW,YES,,,-1;C20orf96,synonymous_variant,p.S192=,ENST00000382369,,c.576C>T,LOW,,,,-1","Allele":"A","Gene":"ENSG00000196476","Feature":"ENST00000360321","Feature_type":"Transcript","One_Consequence":"synonymous_variant","Consequence":"synonymous_variant","cDNA_position":"821/1576","CDS_position":"681/1092","Protein_position":"227/363","Amino_acids":"S","Codons":"tcC/tcT","Existing_variation":"COSV100826881","TRANSCRIPT_STRAND":-1,"SYMBOL":"C20orf96","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:16227","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS12994.1","ENSP":"ENSP00000353470","SWISSPROT":"Q9NUD7.117","UNIPARC":"UPI00001285F1","RefSeq":"NM_153269.3","MANE":"NM_153269.3","APPRIS":"P4","EXON":"7/11","DOMAINS":"Pfam:PF15397;PANTHER:PTHR28574","SOMATIC":"1","IMPACT":"LOW","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","CONTEXT":"AGAGTGGAGAT","tumor_bam_uuid":"0811f808-87c2-4d93-8673-d373f517c4b6","normal_bam_uuid":"cd1b4eef-95d3-4bb3-b84b-2839ec5d224c","case_id":"ac0d7a82-82cb-4aec-b859-e37375f3de8b","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"390","Hugo_Symbol":"RFX4","Entrez_Gene_Id":5992,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr12","Start_Position":106696294,"End_Position":106696294,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-L9-A7SV-01A-11D-A397-08","Matched_Norm_Sample_Barcode":"TCGA-L9-A7SV-10A-01D-A39A-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"d78a7316-187d-4fbd-9ea5-5b5d94569b5a","Matched_Norm_Sample_UUID":"a8d3d6c2-487c-4d5c-a93e-49d2b40c5b48","HGVSc":"c.681C>A","HGVSp":"p.Phe227Leu","HGVSp_Short":"p.F227L","Transcript_ID":"ENST00000392842","Exon_Number":"8/18","t_depth":97,"t_ref_count":71,"t_alt_count":26,"n_depth":85,"all_effects":"RFX4,missense_variant,p.F227L,ENST00000392842,NM_213594.3,c.681C>A,MODERATE,,tolerated(0.39),benign(0.348),1;RFX4,missense_variant,p.F133L,ENST00000229387,NM_032491.6,c.399C>A,MODERATE,,tolerated(0.41),possibly_damaging(0.876),1;RFX4,missense_variant,p.F236L,ENST00000357881,NM_001206691.2,c.708C>A,MODERATE,YES,tolerated(0.44),probably_damaging(0.943),1;RFX4,missense_variant,p.F172L,ENST00000551640,,c.516C>A,MODERATE,,deleterious(0.03),probably_damaging(0.916),1;RFX4,5_prime_UTR_variant,,ENST00000539967,,c.-22C>A,MODIFIER,,,,1;RFX4,downstream_gene_variant,,ENST00000552866,,,MODIFIER,,,,1;RFX4,3_prime_UTR_variant,,ENST00000552917,,c.*256C>A,MODIFIER,,,,1;RFX4,non_coding_transcript_exon_variant,,ENST00000536688,,n.813C>A,MODIFIER,,,,1;RFX4,intron_variant,,ENST00000536722,,c.697-20C>A,MODIFIER,,,,1;AC079385.1,intron_variant,,ENST00000549203,,n.142+78396G>T,MODIFIER,,,,-1;AC079385.1,intron_variant,,ENST00000551505,,n.229+78396G>T,MODIFIER,,,,-1;AC079385.1,intron_variant,,ENST00000652234,,n.367-28323G>T,MODIFIER,YES,,,-1","Allele":"A","Gene":"ENSG00000111783","Feature":"ENST00000392842","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"998/3859","CDS_position":"681/2208","Protein_position":"227/735","Amino_acids":"F/L","Codons":"ttC/ttA","Existing_variation":"COSV57581187;COSV99985327","TRANSCRIPT_STRAND":1,"SYMBOL":"RFX4","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:9985","BIOTYPE":"protein_coding","CCDS":"CCDS9106.1","ENSP":"ENSP00000376585","SWISSPROT":"Q33E94.127","UNIPARC":"UPI00003677F9","UNIPROT_ISOFORM":"Q33E94-1","RefSeq":"NM_213594.3","MANE":"NM_213594.3","APPRIS":"P1","SIFT":"tolerated(0.39)","PolyPhen":"benign(0.348)","EXON":"8/18","DOMAINS":"PANTHER:PTHR12619:SF29;PANTHER:PTHR12619","SOMATIC":"1;1","IMPACT":"MODERATE","VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1;1","CONTEXT":"AGTTTCCTTCT","tumor_bam_uuid":"d3ccde1f-1ad8-4ef0-95f7-fead69c4f111","normal_bam_uuid":"15756a48-affe-40bd-a9ed-b218270439a2","case_id":"54e90433-5218-4d83-848f-f995ecba2a63","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"296","Hugo_Symbol":"STAM","Entrez_Gene_Id":8027,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr10","Start_Position":17684724,"End_Position":17684724,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-75-6214-01A-41D-1945-08","Matched_Norm_Sample_Barcode":"TCGA-75-6214-10A-01D-1946-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"386c643d-476f-4d19-ab4b-2f33371f90ec","Matched_Norm_Sample_UUID":"945fa648-2f7f-4447-83cb-18b2d40dbe3f","HGVSc":"c.175C>A","HGVSp":"p.Pro59Thr","HGVSp_Short":"p.P59T","Transcript_ID":"ENST00000377524","Exon_Number":"3/14","t_depth":124,"t_ref_count":112,"t_alt_count":12,"n_depth":60,"all_effects":"STAM,missense_variant,p.P59T,ENST00000377524,NM_001324284.2&NM_001324285.2&NM_001324288.2&NM_003473.4&NM_001324282.2&NM_001324287.2&NM_001324289.2&NM_001324283.2&NM_001324286.2,c.175C>A,MODERATE,YES,deleterious(0),probably_damaging(0.999),1;STAM,intron_variant,,ENST00000377500,,c.-36-3303C>A,MODIFIER,,,,1;STAM,3_prime_UTR_variant,,ENST00000445846,,c.*150C>A,MODIFIER,,,,1;STAM,upstream_gene_variant,,ENST00000486183,,,MODIFIER,,,,1","Allele":"A","Gene":"ENSG00000136738","Feature":"ENST00000377524","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"364/3856","CDS_position":"175/1623","Protein_position":"59/540","Amino_acids":"P/T","Codons":"Cct/Act","Existing_variation":"COSV66325528","TRANSCRIPT_STRAND":1,"SYMBOL":"STAM","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:11357","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS7122.1","ENSP":"ENSP00000366746","SWISSPROT":"Q92783.181","UNIPARC":"UPI000006E278","UNIPROT_ISOFORM":"Q92783-1","RefSeq":"NM_001324284.2;NM_001324285.2;NM_001324288.2;NM_003473.4;NM_001324282.2;NM_001324287.2;NM_001324289.2;NM_001324283.2;NM_001324286.2","MANE":"NM_003473.4","APPRIS":"P1","SIFT":"deleterious(0)","PolyPhen":"probably_damaging(0.999)","EXON":"3/14","DOMAINS":"Gene3D:1.25.40.90;PDB-ENSP_mappings:3ldz.A;PDB-ENSP_mappings:3ldz.B;PDB-ENSP_mappings:3ldz.C;PDB-ENSP_mappings:3ldz.D;Pfam:PF00790;PROSITE_profiles:PS50179;PANTHER:PTHR45929;PANTHER:PTHR45929:SF2;SMART:SM00288;Superfamily:SSF48464;CDD:cd17000","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","CONTEXT":"AAGATCCTCAC","tumor_bam_uuid":"55381b30-133e-4777-a80b-e1acdc71558d","normal_bam_uuid":"82cac576-d1c9-418a-a614-674fcf6696cd","case_id":"32592562-11fa-435a-b40b-2b242bae53aa","COSMIC":"COSM6129035","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2"}
{"X1":"569","Hugo_Symbol":"DGKK","Entrez_Gene_Id":139189,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chrX","Start_Position":50378613,"End_Position":50378613,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-97-7938-01A-11D-2167-08","Matched_Norm_Sample_Barcode":"TCGA-97-7938-10A-01D-2167-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"2dfca795-a40d-4a4b-9dfd-af3d0a683c46","Matched_Norm_Sample_UUID":"82ce5155-d67c-45f1-843b-f7bfb2e4675d","HGVSc":"c.2941C>T","HGVSp":"p.Arg981Cys","HGVSp_Short":"p.R981C","Transcript_ID":"ENST00000611977","Exon_Number":"21/28","t_depth":32,"t_ref_count":25,"t_alt_count":6,"n_depth":24,"all_effects":"DGKK,missense_variant,p.R981C,ENST00000611977,NM_001013742.4,c.2941C>T,MODERATE,YES,deleterious(0),probably_damaging(0.999),-1","Allele":"A","Gene":"ENSG00000274588","Feature":"ENST00000611977","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"3088/7494","CDS_position":"2941/3816","Protein_position":"981/1271","Amino_acids":"R/C","Codons":"Cgt/Tgt","Existing_variation":"COSV101053125;COSV65706117","TRANSCRIPT_STRAND":-1,"SYMBOL":"DGKK","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:32395","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS75980.1","ENSP":"ENSP00000477515","SWISSPROT":"Q5KSL6.127","UNIPARC":"UPI00004BA922","RefSeq":"NM_001013742.4","MANE":"NM_001013742.4","APPRIS":"P1","SIFT":"deleterious(0)","PolyPhen":"probably_damaging(0.999)","EXON":"21/28","DOMAINS":"Gene3D:2.60.200.40;Pfam:PF00609;PANTHER:PTHR11255;PANTHER:PTHR11255:SF33;SMART:SM00045;Superfamily:SSF111331","SOMATIC":"1;1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1;1","CONTEXT":"GATACGGGACA","tumor_bam_uuid":"95c2dfa6-7575-49b0-903e-8b10415e5a7f","normal_bam_uuid":"c90e3a2e-4ce5-4014-9f07-a0a5c446722b","case_id":"e6e75590-9520-4b1c-8a28-4a1d2b2218fc","COSMIC":"COSM6187225","hotspot":"N","RNA_Support":"Unknown","callers":"muse;varscan2"}
{"X1":"370","Hugo_Symbol":"CSNK1G3","Entrez_Gene_Id":1456,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr5","Start_Position":123614360,"End_Position":123614360,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"A","Tumor_Seq_Allele1":"A","Tumor_Seq_Allele2":"C","dbSNP_RS":"rs778817415","Tumor_Sample_Barcode":"TCGA-73-4666-01A-01D-1265-08","Matched_Norm_Sample_Barcode":"TCGA-73-4666-11A-01D-1265-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"f49fc77e-03cd-423c-b3e1-18bb19568650","Matched_Norm_Sample_UUID":"cd39ef64-de54-4f7b-abd8-5bee411ce8dd","HGVSc":"c.1308A>C","HGVSp":"p.Lys436Asn","HGVSp_Short":"p.K436N","Transcript_ID":"ENST00000361991","Exon_Number":"12/12","t_depth":64,"t_ref_count":42,"t_alt_count":22,"n_depth":63,"all_effects":"CSNK1G3,missense_variant,p.K412N,ENST00000345990,NM_001031812.3&NM_001364141.2,c.1236A>C,MODERATE,,deleterious_low_confidence(0.01),probably_damaging(0.959),1;CSNK1G3,missense_variant,p.K444N,ENST00000360683,NM_001364140.2&NM_001044723.2,c.1332A>C,MODERATE,YES,deleterious_low_confidence(0.01),probably_damaging(0.962),1;CSNK1G3,missense_variant,p.K412N,ENST00000521364,,c.1236A>C,MODERATE,,deleterious_low_confidence(0.01),probably_damaging(0.959),1;CSNK1G3,missense_variant,p.K436N,ENST00000361991,NM_004384.4,c.1308A>C,MODERATE,,deleterious_low_confidence(0.02),probably_damaging(0.91),1;CSNK1G3,missense_variant,p.K413N,ENST00000510842,NM_001364143.2&NM_001270572.1,c.1239A>C,MODERATE,,deleterious_low_confidence(0.01),probably_damaging(0.917),1;CSNK1G3,missense_variant,p.K337N,ENST00000512718,NM_001364150.2&NM_001270573.2&NM_001364145.2&NM_001364144.2&NM_001364149.2,c.1011A>C,MODERATE,,deleterious_low_confidence(0.01),possibly_damaging(0.883),1;CSNK1G3,missense_variant,p.K300N,ENST00000511130,NM_001270574.2&NM_001364146.2&NM_001364147.2&NM_001364148.2,c.900A>C,MODERATE,,deleterious_low_confidence(0.01),probably_damaging(0.917),1;CSNK1G3,missense_variant,p.K153N,ENST00000515322,,c.459A>C,MODERATE,,deleterious(0.05),probably_damaging(0.995),1","Allele":"C","Gene":"ENSG00000151292","Feature":"ENST00000361991","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"1338/2424","CDS_position":"1308/1344","Protein_position":"436/447","Amino_acids":"K/N","Codons":"aaA/aaC","Existing_variation":"rs778817415;COSV62055058","TRANSCRIPT_STRAND":1,"SYMBOL":"CSNK1G3","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:2456","BIOTYPE":"protein_coding","CCDS":"CCDS4135.1","ENSP":"ENSP00000354942","SWISSPROT":"Q9Y6M4.184","UNIPARC":"UPI000035B1BD","UNIPROT_ISOFORM":"Q9Y6M4-1","RefSeq":"NM_004384.4","APPRIS":"P4","SIFT":"deleterious_low_confidence(0.02)","PolyPhen":"probably_damaging(0.91)","EXON":"12/12","DOMAINS":"Low_complexity_(Seg):seg;PANTHER:PTHR11909:SF151;PANTHER:PTHR11909","gnomAD_AF":"0","gnomAD_AFR_AF":"0","gnomAD_AMR_AF":"0","gnomAD_ASJ_AF":"0","gnomAD_EAS_AF":"0","gnomAD_FIN_AF":"0","gnomAD_NFE_AF":"0","gnomAD_OTH_AF":"0","gnomAD_SAS_AF":"0","MAX_AF":"0","MAX_AF_POPS":"gnomAD_AFR;gnomAD_AMR;gnomAD_ASJ;gnomAD_EAS;gnomAD_FIN;gnomAD_NFE;gnomAD_OTH;gnomAD_SAS","SOMATIC":"0;1","IMPACT":"MODERATE","VARIANT_CLASS":"SNV","TSL":1,"PHENO":"0;1","CONTEXT":"TTCAAACGAAG","tumor_bam_uuid":"ba1098f2-51d5-404f-b3ae-1b3bb070e349","normal_bam_uuid":"d4681c13-ff3a-41c9-9dd2-9a95c1af1d6d","case_id":"4c31127e-d095-4978-9dac-35153c27f6ed","COSMIC":"COSM6101684","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"432","Hugo_Symbol":"ABCA9","Entrez_Gene_Id":10350,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr17","Start_Position":69027398,"End_Position":69027398,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-55-7994-01A-11D-2184-08","Matched_Norm_Sample_Barcode":"TCGA-55-7994-10A-01D-2184-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"4c8b463c-8851-4b3b-bc57-327ea12d82d8","Matched_Norm_Sample_UUID":"cad56139-9883-4b4e-9b47-0ddf79030293","HGVSc":"c.1843G>T","HGVSp":"p.Ala615Ser","HGVSp_Short":"p.A615S","Transcript_ID":"ENST00000340001","Exon_Number":"14/39","t_depth":36,"t_ref_count":24,"t_alt_count":12,"n_depth":17,"all_effects":"ABCA9,missense_variant,p.A615S,ENST00000340001,NM_080283.4,c.1843G>T,MODERATE,YES,deleterious(0),possibly_damaging(0.8),-1;ABCA9,missense_variant,p.A615S,ENST00000453985,,c.1843G>T,MODERATE,,deleterious(0),possibly_damaging(0.577),-1;ABCA9-AS1,intron_variant,,ENST00000627453,,n.237+4139C>A,MODIFIER,,,,1;ABCA9-AS1,intron_variant,,ENST00000629311,,n.229+4139C>A,MODIFIER,YES,,,1;ABCA9-AS1,downstream_gene_variant,,ENST00000627957,,,MODIFIER,,,,1","Allele":"A","Gene":"ENSG00000154258","Feature":"ENST00000340001","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"1918/6377","CDS_position":"1843/4875","Protein_position":"615/1624","Amino_acids":"A/S","Codons":"Gct/Tct","Existing_variation":"COSV100383397","TRANSCRIPT_STRAND":-1,"SYMBOL":"ABCA9","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:39","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS11681.1","ENSP":"ENSP00000342216","SWISSPROT":"Q8IUA7.135","UNIPARC":"UPI00000747B1","UNIPROT_ISOFORM":"Q8IUA7-1","RefSeq":"NM_080283.4","MANE":"NM_080283.4","APPRIS":"P1","SIFT":"deleterious(0)","PolyPhen":"possibly_damaging(0.8)","EXON":"14/39","DOMAINS":"Gene3D:3.40.50.300;Pfam:PF00005;PROSITE_profiles:PS50893;PANTHER:PTHR19229;PANTHER:PTHR19229:SF120;SMART:SM00382;Superfamily:SSF52540;CDD:cd03263","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","CONTEXT":"TTGAGCAAGGA","tumor_bam_uuid":"52d3d796-0560-41f0-88d3-a7db827b155c","normal_bam_uuid":"8a26dec8-750d-4964-8874-d02647a449f0","case_id":"67dbe286-edb3-4d07-8f74-9e5254f01945","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"445","Hugo_Symbol":"REM1","Entrez_Gene_Id":28954,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr20","Start_Position":31476522,"End_Position":31476522,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"T","Tumor_Sample_Barcode":"TCGA-49-6767-01A-11D-1855-08","Matched_Norm_Sample_Barcode":"TCGA-49-6767-11A-01D-1855-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"9f82f494-042a-4f00-954c-4761fa25b298","Matched_Norm_Sample_UUID":"25c0da49-0dd3-4eac-a262-756b8e3870dc","HGVSc":"c.77G>T","HGVSp":"p.Arg26Leu","HGVSp_Short":"p.R26L","Transcript_ID":"ENST00000201979","Exon_Number":"2/5","t_depth":68,"t_ref_count":53,"t_alt_count":14,"n_depth":100,"all_effects":"REM1,missense_variant,p.R26L,ENST00000201979,NM_014012.6,c.77G>T,MODERATE,YES,deleterious(0.03),benign(0.003),1;DEFB124,upstream_gene_variant,,ENST00000317676,NM_001037500.1,,MODIFIER,YES,,,-1;DEFB124,intron_variant,,ENST00000481595,,n.131+105C>A,MODIFIER,,,,-1","Allele":"T","Gene":"ENSG00000088320","Feature":"ENST00000201979","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"375/1660","CDS_position":"77/897","Protein_position":"26/298","Amino_acids":"R/L","Codons":"cGg/cTg","Existing_variation":"COSV52429544;COSV99147337","TRANSCRIPT_STRAND":1,"SYMBOL":"REM1","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:15922","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS13181.1","ENSP":"ENSP00000201979","SWISSPROT":"O75628.165","UNIPARC":"UPI0000073CEB","RefSeq":"NM_014012.6","MANE":"NM_014012.6","APPRIS":"P1","SIFT":"deleterious(0.03)","PolyPhen":"benign(0.003)","EXON":"2/5","DOMAINS":"MobiDB_lite:mobidb-lite;PANTHER:PTHR45775:SF2;PANTHER:PTHR45775;PIRSF:PIRSF038017","SOMATIC":"1;1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1;1","CONTEXT":"CCCACGGGGCC","tumor_bam_uuid":"d0510269-2aa9-4da9-8dd6-c5f3f874e702","normal_bam_uuid":"68ffd2d1-57f8-4707-bf14-33e4358d686c","case_id":"6bffe800-ec2b-4638-9333-97fe85dcd91c","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2"}
{"X1":"344","Hugo_Symbol":"INSC","Entrez_Gene_Id":387755,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr11","Start_Position":15221539,"End_Position":15221539,"Strand":"+","Variant_Classification":"Silent","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"T","Tumor_Sample_Barcode":"TCGA-44-2656-01A-12D-A27T-08","Matched_Norm_Sample_Barcode":"TCGA-44-2656-10A-01D-0969-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"e368fa33-7cd5-4038-a787-6bc82378a386","Matched_Norm_Sample_UUID":"03b8420d-480f-48e1-88a7-8ee9917049a6","HGVSc":"c.1023G>T","HGVSp":"p.Arg341=","HGVSp_Short":"p.R341=","Transcript_ID":"ENST00000379554","Exon_Number":"8/13","t_depth":127,"t_ref_count":103,"t_alt_count":24,"n_depth":145,"all_effects":"INSC,synonymous_variant,p.R341=,ENST00000379554,NM_001031853.4,c.1023G>T,LOW,YES,,,1;INSC,synonymous_variant,p.R328=,ENST00000424273,NM_001278314.1,c.984G>T,LOW,,,,1;INSC,synonymous_variant,p.R294=,ENST00000379556,NM_001042536.3,c.882G>T,LOW,,,,1;INSC,synonymous_variant,p.R294=,ENST00000528567,NM_001278315.1,c.882G>T,LOW,,,,1;INSC,synonymous_variant,p.R294=,ENST00000530161,NM_001278313.1,c.882G>T,LOW,,,,1;INSC,synonymous_variant,p.R252=,ENST00000525218,NM_001278316.1,c.756G>T,LOW,,,,1;INSC,non_coding_transcript_exon_variant,,ENST00000447214,,n.324G>T,MODIFIER,,,,1","Allele":"T","Gene":"ENSG00000188487","Feature":"ENST00000379554","Feature_type":"Transcript","One_Consequence":"synonymous_variant","Consequence":"synonymous_variant","cDNA_position":"1069/2954","CDS_position":"1023/1740","Protein_position":"341/579","Amino_acids":"R","Codons":"cgG/cgT","Existing_variation":"COSV65409114","TRANSCRIPT_STRAND":1,"SYMBOL":"INSC","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:33116","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS41621.1","ENSP":"ENSP00000368872","SWISSPROT":"Q1MX18.113","UNIPARC":"UPI0000D63F1D","UNIPROT_ISOFORM":"Q1MX18-1","RefSeq":"NM_001031853.4","APPRIS":"P4","EXON":"8/13","DOMAINS":"Low_complexity_(Seg):seg;PANTHER:PTHR21386;Gene3D:1.25.10.10;SMART:SM00185;Superfamily:SSF48371","SOMATIC":"1","IMPACT":"LOW","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","CONTEXT":"ACACGGGCTGA","tumor_bam_uuid":"4dba7a4d-7c8b-4072-ab26-5bb93c0335be","normal_bam_uuid":"ada4ffdf-3ba5-4ad0-8eb4-634d04b2b9b8","case_id":"42ca54fc-c1ae-41cd-bca1-7fe9810db460","COSMIC":"COSM6068155","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"118","Hugo_Symbol":"SLITRK2","Entrez_Gene_Id":84631,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chrX","Start_Position":145824957,"End_Position":145824957,"Strand":"+","Variant_Classification":"Silent","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-97-7554-01A-11D-2036-08","Matched_Norm_Sample_Barcode":"TCGA-97-7554-10A-01D-2036-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"1279b038-abe8-4ac4-accb-8a566da2b2fc","Matched_Norm_Sample_UUID":"e05893e7-9426-44cc-8f63-c4e6e4daf500","HGVSc":"c.2532G>A","HGVSp":"p.Gln844=","HGVSp_Short":"p.Q844=","Transcript_ID":"ENST00000370490","Exon_Number":"1/1","t_depth":128,"t_ref_count":54,"t_alt_count":73,"n_depth":63,"all_effects":"SLITRK2,synonymous_variant,p.Q844=,ENST00000335565,NM_032539.5&NM_001144005.3&NM_001144003.3&NM_001144004.3,c.2532G>A,LOW,YES,,,1;SLITRK2,synonymous_variant,p.Q844=,ENST00000370490,NM_001144008.2&NM_001144006.2&NM_001144010.2&NM_001144009.2,c.2532G>A,LOW,,,,1;AL109653.3,upstream_gene_variant,,ENST00000650977,,,MODIFIER,YES,,,-1","Allele":"A","Gene":"ENSG00000185985","Feature":"ENST00000370490","Feature_type":"Transcript","One_Consequence":"synonymous_variant","Consequence":"synonymous_variant","cDNA_position":"6787/7672","CDS_position":"2532/2538","Protein_position":"844/845","Amino_acids":"Q","Codons":"caG/caA","Existing_variation":"COSV59425997","TRANSCRIPT_STRAND":1,"SYMBOL":"SLITRK2","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:13449","BIOTYPE":"protein_coding","CCDS":"CCDS14680.1","ENSP":"ENSP00000359521","SWISSPROT":"Q9H156.162","UNIPARC":"UPI000004E64B","RefSeq":"NM_001144008.2;NM_001144006.2;NM_001144010.2;NM_001144009.2","APPRIS":"P1","EXON":"1/1","DOMAINS":"PANTHER:PTHR45773;PANTHER:PTHR45773:SF4","SOMATIC":"1","IMPACT":"LOW","VARIANT_CLASS":"SNV","PHENO":"1","CONTEXT":"AGTCAGCTGTG","tumor_bam_uuid":"0e9a91dd-dd03-4c4d-8030-244a44637c0e","normal_bam_uuid":"b6fb7f89-043a-4816-957c-d539de0e0353","case_id":"a9644274-13bb-4228-9b4f-14260ccc26eb","COSMIC":"COSM6185938","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"564","Hugo_Symbol":"PCK1","Entrez_Gene_Id":5105,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr20","Start_Position":57565694,"End_Position":57565694,"Strand":"+","Variant_Classification":"Nonsense_Mutation","Variant_Type":"SNP","Reference_Allele":"A","Tumor_Seq_Allele1":"A","Tumor_Seq_Allele2":"T","Tumor_Sample_Barcode":"TCGA-55-6985-01A-11D-1945-08","Matched_Norm_Sample_Barcode":"TCGA-55-6985-11A-01D-1945-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"66ba22b1-aab9-4c8d-be49-5b417cb53094","Matched_Norm_Sample_UUID":"af54c77e-4dbd-4955-b021-db04c738c39d","HGVSc":"c.1759A>T","HGVSp":"p.Lys587Ter","HGVSp_Short":"p.K587*","Transcript_ID":"ENST00000319441","Exon_Number":"10/10","t_depth":28,"t_ref_count":20,"t_alt_count":8,"n_depth":31,"all_effects":"PCK1,stop_gained,p.K587*,ENST00000319441,NM_002591.4,c.1759A>T,HIGH,YES,,,1;PCK1,non_coding_transcript_exon_variant,,ENST00000467047,,n.4401A>T,MODIFIER,,,,1;PCK1,downstream_gene_variant,,ENST00000470051,,,MODIFIER,,,,1;PCK1,downstream_gene_variant,,ENST00000475833,,,MODIFIER,,,,1;PCK1,downstream_gene_variant,,ENST00000485958,,,MODIFIER,,,,1;PCK1,downstream_gene_variant,,ENST00000498194,,,MODIFIER,,,,1","Allele":"T","Gene":"ENSG00000124253","Feature":"ENST00000319441","Feature_type":"Transcript","One_Consequence":"stop_gained","Consequence":"stop_gained","cDNA_position":"1893/4320","CDS_position":"1759/1869","Protein_position":"587/622","Amino_acids":"K/*","Codons":"Aag/Tag","Existing_variation":"COSV60129442","TRANSCRIPT_STRAND":1,"SYMBOL":"PCK1","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:8724","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS13460.1","ENSP":"ENSP00000319814","SWISSPROT":"P35558.203","UNIPARC":"UPI000013CB5A","UNIPROT_ISOFORM":"P35558-1","RefSeq":"NM_002591.4","MANE":"NM_002591.4","APPRIS":"P1","EXON":"10/10","DOMAINS":"PDB-ENSP_mappings:1khb.A;PDB-ENSP_mappings:1khe.A;PDB-ENSP_mappings:1khf.A;PDB-ENSP_mappings:1khg.A;PDB-ENSP_mappings:1m51.A;PDB-ENSP_mappings:1nhx.A;PDB-ENSP_mappings:2gmv.A;PDB-ENSP_mappings:2gmv.B;HAMAP:MF_00452;CDD:cd00819;PANTHER:PTHR11561;PANTHER:PTHR11561:SF1;PIRSF:PIRSF001348;Gene3D:3.90.228.20;Pfam:PF00821;Superfamily:SSF53795","SOMATIC":"1","IMPACT":"HIGH","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","GENE_PHENO":"1","CONTEXT":"GGGAGAAGGAG","tumor_bam_uuid":"d428b69d-7ab4-461d-bf70-bc8e25b0d165","normal_bam_uuid":"873181c0-5c4f-4dc4-87c4-dff1324c6320","case_id":"e5cb0c86-8fe2-4cfc-b32b-e8ec3839ffc4","COSMIC":"COSM6160429","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"220","Hugo_Symbol":"MAGEH1","Entrez_Gene_Id":28986,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chrX","Start_Position":55452960,"End_Position":55452960,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-67-6217-01A-11D-1753-08","Matched_Norm_Sample_Barcode":"TCGA-67-6217-10A-01D-1753-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"cb98d825-668f-4b16-a05e-501e1c94f3fe","Matched_Norm_Sample_UUID":"3f3bd303-83e1-4896-8c92-b287da34fbf8","HGVSc":"c.586G>A","HGVSp":"p.Asp196Asn","HGVSp_Short":"p.D196N","Transcript_ID":"ENST00000342972","Exon_Number":"1/1","t_depth":99,"t_ref_count":87,"t_alt_count":12,"n_depth":93,"all_effects":"MAGEH1,missense_variant,p.D196N,ENST00000342972,NM_014061.5,c.586G>A,MODERATE,YES,tolerated_low_confidence(0.17),benign(0.076),1;MIR4536-2,downstream_gene_variant,,ENST00000583537,,,MODIFIER,YES,,,1;MIR4536-1,upstream_gene_variant,,ENST00000636519,,,MODIFIER,YES,,,-1","Allele":"A","Gene":"ENSG00000187601","Feature":"ENST00000342972","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"834/1440","CDS_position":"586/660","Protein_position":"196/219","Amino_acids":"D/N","Codons":"Gac/Aac","Existing_variation":"COSV61679152","TRANSCRIPT_STRAND":1,"SYMBOL":"MAGEH1","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:24092","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS14369.1","ENSP":"ENSP00000343706","SWISSPROT":"Q9H213.133","UNIPARC":"UPI0000038A64","RefSeq":"NM_014061.5","MANE":"NM_014061.5","APPRIS":"P1","SIFT":"tolerated_low_confidence(0.17)","PolyPhen":"benign(0.076)","EXON":"1/1","DOMAINS":"PROSITE_profiles:PS50838;PANTHER:PTHR11736:SF8;PANTHER:PTHR11736;Gene3D:1.10.10.1210","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","PHENO":"1","CONTEXT":"ATTATGACTGG","tumor_bam_uuid":"87ec1d6d-a792-4808-9ef8-1cd9ff23bcdd","normal_bam_uuid":"5954051f-46e0-4423-b03b-ff82fa5faf83","case_id":"108a71cf-b9db-47cd-aa74-c03ec989b41b","COSMIC":"COSM6119451","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"26","Hugo_Symbol":"SCGB1D4","Entrez_Gene_Id":404552,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr11","Start_Position":62297575,"End_Position":62297575,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"T","Tumor_Sample_Barcode":"TCGA-50-7109-01A-11D-2036-08","Matched_Norm_Sample_Barcode":"TCGA-50-7109-11A-01D-2036-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"5efb21c5-9c0b-4442-b0cb-3c30b0869dba","Matched_Norm_Sample_UUID":"49a93a1d-94d7-47f8-8e42-1585bde5d3ac","HGVSc":"c.139G>A","HGVSp":"p.Ala47Thr","HGVSp_Short":"p.A47T","Transcript_ID":"ENST00000358585","Exon_Number":"2/3","t_depth":178,"t_ref_count":150,"t_alt_count":28,"n_depth":147,"all_effects":"SCGB1D4,missense_variant,p.A47T,ENST00000358585,NM_206998.2,c.139G>A,MODERATE,YES,tolerated(0.19),possibly_damaging(0.754),-1","Allele":"T","Gene":"ENSG00000197745","Feature":"ENST00000358585","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"204/446","CDS_position":"139/252","Protein_position":"47/83","Amino_acids":"A/T","Codons":"Gcc/Acc","Existing_variation":"COSV100669543;COSV62204104","TRANSCRIPT_STRAND":-1,"SYMBOL":"SCGB1D4","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:31748","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS31583.1","ENSP":"ENSP00000351395","SWISSPROT":"Q6XE38.102","UNIPARC":"UPI0000049DF4","RefSeq":"NM_206998.2","MANE":"NM_206998.2","APPRIS":"P1","SIFT":"tolerated(0.19)","PolyPhen":"possibly_damaging(0.754)","EXON":"2/3","DOMAINS":"Pfam:PF01099;PROSITE_profiles:PS51311;PANTHER:PTHR11332;PANTHER:PTHR11332:SF8;Superfamily:SSF48201","SOMATIC":"1;1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1;1","CONTEXT":"TTTGGCAACTT","tumor_bam_uuid":"80cbf01e-6cc5-481d-b9de-cfe336d34e87","normal_bam_uuid":"9d87f2f3-154a-4b40-8a75-2ed76e10286b","case_id":"7eb540b4-8dd3-4382-a488-e48b1c7213b3","COSMIC":"COSM6133800","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"390","Hugo_Symbol":"PPM1B","Entrez_Gene_Id":5495,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr2","Start_Position":44209320,"End_Position":44209320,"Strand":"+","Variant_Classification":"Silent","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"T","Tumor_Sample_Barcode":"TCGA-L9-A7SV-01A-11D-A397-08","Matched_Norm_Sample_Barcode":"TCGA-L9-A7SV-10A-01D-A39A-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"d78a7316-187d-4fbd-9ea5-5b5d94569b5a","Matched_Norm_Sample_UUID":"a8d3d6c2-487c-4d5c-a93e-49d2b40c5b48","HGVSc":"c.957G>T","HGVSp":"p.Arg319=","HGVSp_Short":"p.R319=","Transcript_ID":"ENST00000282412","Exon_Number":"3/6","t_depth":72,"t_ref_count":52,"t_alt_count":20,"n_depth":41,"all_effects":"PPM1B,synonymous_variant,p.R319=,ENST00000378551,NM_177968.4,c.957G>T,LOW,,,,1;PPM1B,synonymous_variant,p.R319=,ENST00000409432,NM_001033557.3,c.957G>T,LOW,,,,1;PPM1B,synonymous_variant,p.R319=,ENST00000282412,NM_002706.6,c.957G>T,LOW,YES,,,1;PPM1B,synonymous_variant,p.R319=,ENST00000419807,,c.957G>T,LOW,,,,1;PPM1B,synonymous_variant,p.R32=,ENST00000345249,NM_177969.3,c.96G>T,LOW,,,,1;PPM1B,synonymous_variant,p.R244=,ENST00000409473,,c.732G>T,LOW,,,,1;PPM1B,non_coding_transcript_exon_variant,,ENST00000378540,,n.1369G>T,MODIFIER,,,,1;PPM1B,non_coding_transcript_exon_variant,,ENST00000487286,,n.140G>T,MODIFIER,,,,1;PPM1B,intron_variant,,ENST00000459690,,n.100+7275G>T,MODIFIER,,,,1;AC013717.1,synonymous_variant,p.R319=,ENST00000649044,,c.957G>T,LOW,YES,,,1;PPM1B,non_coding_transcript_exon_variant,,ENST00000409486,,n.1369G>T,MODIFIER,,,,1","Allele":"T","Gene":"ENSG00000138032","Feature":"ENST00000282412","Feature_type":"Transcript","One_Consequence":"synonymous_variant","Consequence":"synonymous_variant","cDNA_position":"1371/2608","CDS_position":"957/1440","Protein_position":"319/479","Amino_acids":"R","Codons":"cgG/cgT","Existing_variation":"COSV99175902","TRANSCRIPT_STRAND":1,"SYMBOL":"PPM1B","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:9276","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS1817.1","ENSP":"ENSP00000282412","SWISSPROT":"O75688.200","UNIPARC":"UPI0000130FE7","UNIPROT_ISOFORM":"O75688-1","RefSeq":"NM_002706.6","MANE":"NM_002706.6","APPRIS":"P3","EXON":"3/6","DOMAINS":"PANTHER:PTHR13832:SF244;PANTHER:PTHR13832;Pfam:PF07830;Gene3D:1.10.10.430;Superfamily:SSF81601","SOMATIC":"1","IMPACT":"LOW","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","GENE_PHENO":"1","CONTEXT":"TCACGGGTTGA","tumor_bam_uuid":"d3ccde1f-1ad8-4ef0-95f7-fead69c4f111","normal_bam_uuid":"15756a48-affe-40bd-a9ed-b218270439a2","case_id":"54e90433-5218-4d83-848f-f995ecba2a63","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"235","Hugo_Symbol":"PRKCH","Entrez_Gene_Id":5583,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr14","Start_Position":61549750,"End_Position":61549750,"Strand":"+","Variant_Classification":"Silent","Variant_Type":"SNP","Reference_Allele":"A","Tumor_Seq_Allele1":"A","Tumor_Seq_Allele2":"T","Tumor_Sample_Barcode":"TCGA-78-8662-01A-11D-2393-08","Matched_Norm_Sample_Barcode":"TCGA-78-8662-10A-01D-2393-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"30a18e06-a219-42fb-934d-05dab59924d2","Matched_Norm_Sample_UUID":"9ba38ffb-4d0d-46f6-ac56-8eeb499610cc","HGVSc":"c.1971A>T","HGVSp":"p.Pro657=","HGVSp_Short":"p.P657=","Transcript_ID":"ENST00000332981","Exon_Number":"14/14","t_depth":99,"t_ref_count":21,"t_alt_count":78,"n_depth":147,"all_effects":"PRKCH,synonymous_variant,p.P657=,ENST00000332981,NM_006255.4,c.1971A>T,LOW,YES,,,1;PRKCH,synonymous_variant,p.P496=,ENST00000555082,,c.1488A>T,LOW,,,,1;AL355916.3,intron_variant,,ENST00000556347,,c.419+1864A>T,MODIFIER,YES,,,1;PRKCH,non_coding_transcript_exon_variant,,ENST00000556245,,n.1523A>T,MODIFIER,,,,1;PRKCH,non_coding_transcript_exon_variant,,ENST00000536400,,n.772A>T,MODIFIER,,,,1;PRKCH,non_coding_transcript_exon_variant,,ENST00000557599,,n.694A>T,MODIFIER,,,,1;PRKCH,downstream_gene_variant,,ENST00000553846,,,MODIFIER,,,,1;PRKCH,downstream_gene_variant,,ENST00000555382,,,MODIFIER,,,,1;PRKCH,downstream_gene_variant,,ENST00000555628,,,MODIFIER,,,,1;AL355916.2,upstream_gene_variant,,ENST00000556543,,,MODIFIER,,,,-1;AL355916.2,upstream_gene_variant,,ENST00000655460,,,MODIFIER,,,,-1;AL355916.2,upstream_gene_variant,,ENST00000657687,,,MODIFIER,,,,-1;AL355916.2,upstream_gene_variant,,ENST00000660507,,,MODIFIER,,,,-1;AL355916.2,upstream_gene_variant,,ENST00000666850,,,MODIFIER,,,,-1","Allele":"T","Gene":"ENSG00000027075","Feature":"ENST00000332981","Feature_type":"Transcript","One_Consequence":"synonymous_variant","Consequence":"synonymous_variant","cDNA_position":"2353/3579","CDS_position":"1971/2052","Protein_position":"657/683","Amino_acids":"P","Codons":"ccA/ccT","Existing_variation":"COSV100273757","TRANSCRIPT_STRAND":1,"SYMBOL":"PRKCH","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:9403","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS9752.1","ENSP":"ENSP00000329127","SWISSPROT":"P24723.204","UNIPARC":"UPI0000073BBF","UNIPROT_ISOFORM":"P24723-1","RefSeq":"NM_006255.4","APPRIS":"P1","EXON":"14/14","DOMAINS":"PDB-ENSP_mappings:3txo.A;CDD:cd05590;Pfam:PF00433;Gene3D:3.30.200.20;PIRSF:PIRSF501107;PIRSF:PIRSF000551;SMART:SM00133;Superfamily:SSF56112;PROSITE_profiles:PS51285;PANTHER:PTHR24356;PANTHER:PTHR24356:SF192","SOMATIC":"1","IMPACT":"LOW","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","GENE_PHENO":"1","CONTEXT":"ACTCCAATTGA","tumor_bam_uuid":"a219922f-d967-4bb8-8215-2d8c7b5f9967","normal_bam_uuid":"def870a2-bbc3-4e7b-a8f8-1fb10a2c7ffc","case_id":"16e64a1e-08b0-4c27-8c69-fa64551f8ca4","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"352","Hugo_Symbol":"SLC13A3","Entrez_Gene_Id":64849,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr20","Start_Position":46589203,"End_Position":46589203,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"C","Tumor_Sample_Barcode":"TCGA-17-Z027-01A-01W-0746-08","Matched_Norm_Sample_Barcode":"TCGA-17-Z027-11A-01W-0746-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"880452fe-00ed-4732-bbcf-14b55c235e61","Matched_Norm_Sample_UUID":"3b74da0c-a646-4170-8034-2411a17966ca","HGVSc":"c.973C>G","HGVSp":"p.Arg325Gly","HGVSp_Short":"p.R325G","Transcript_ID":"ENST00000279027","Exon_Number":"7/13","t_depth":95,"t_ref_count":65,"t_alt_count":30,"n_depth":102,"all_effects":"SLC13A3,missense_variant,p.R325G,ENST00000279027,NM_022829.6,c.973C>G,MODERATE,YES,tolerated(0.17),benign(0.001),-1;SLC13A3,missense_variant,p.R278G,ENST00000290317,NM_001011554.3&NM_001193342.2,c.832C>G,MODERATE,,tolerated(0.22),benign(0.001),-1;SLC13A3,missense_variant,p.R278G,ENST00000472148,NM_001193340.2,c.832C>G,MODERATE,,tolerated(0.16),benign(0),-1;SLC13A3,missense_variant,p.R275G,ENST00000413164,NM_001193339.2,c.823C>G,MODERATE,,tolerated(0.25),benign(0.015),-1;SLC13A3,missense_variant,p.R278G,ENST00000495082,,c.832C>G,MODERATE,,tolerated(0.22),benign(0.001),-1;SLC13A3,missense_variant,p.R278G,ENST00000468915,,c.832C>G,MODERATE,,tolerated(0.14),benign(0.001),-1;SLC13A3,missense_variant,p.R238G,ENST00000420568,,c.712C>G,MODERATE,,tolerated(0.25),benign(0.023),-1;SLC13A3,missense_variant,p.R228G,ENST00000372121,,c.682C>G,MODERATE,,deleterious(0.04),benign(0.015),-1;SLC13A3,missense_variant,p.R155G,ENST00000450298,,c.463C>G,MODERATE,,tolerated(0.08),benign(0.392),-1;SLC13A3,upstream_gene_variant,,ENST00000464518,,,MODIFIER,,,,-1","Allele":"C","Gene":"ENSG00000158296","Feature":"ENST00000279027","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"1011/4041","CDS_position":"973/1809","Protein_position":"325/602","Amino_acids":"R/G","Codons":"Cga/Gga","Existing_variation":"COSV51714022","TRANSCRIPT_STRAND":-1,"SYMBOL":"SLC13A3","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:14430","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS13400.1","ENSP":"ENSP00000279027","SWISSPROT":"Q8WWT9.168","UNIPARC":"UPI000013542F","UNIPROT_ISOFORM":"Q8WWT9-1","RefSeq":"NM_022829.6","MANE":"NM_022829.6","APPRIS":"P1","SIFT":"tolerated(0.17)","PolyPhen":"benign(0.001)","EXON":"7/13","DOMAINS":"Pfam:PF00939;PANTHER:PTHR10283;PANTHER:PTHR10283:SF62;CDD:cd01115","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","GENE_PHENO":"1","CONTEXT":"AGCTCGAGCCC","tumor_bam_uuid":"67e61858-a635-4eeb-a3fc-abddcfc038d5","normal_bam_uuid":"fba28628-531c-4494-80ba-9bf8b25c0afc","case_id":"4432a02d-91de-4a7d-875f-684865f3c95d","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"561","Hugo_Symbol":"BUB1B","Entrez_Gene_Id":701,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr15","Start_Position":40170665,"End_Position":40170665,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"A","Tumor_Seq_Allele1":"A","Tumor_Seq_Allele2":"G","dbSNP_RS":"rs759232092","Tumor_Sample_Barcode":"TCGA-17-Z022-01A-01W-0746-08","Matched_Norm_Sample_Barcode":"TCGA-17-Z022-11A-01W-0746-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"7f07e5b3-bf70-4690-84ba-a9eace798a24","Matched_Norm_Sample_UUID":"61862004-a35f-4af5-95c0-ee3de1158131","HGVSc":"c.368A>G","HGVSp":"p.Asn123Ser","HGVSp_Short":"p.N123S","Transcript_ID":"ENST00000287598","Exon_Number":"4/23","t_depth":46,"t_ref_count":38,"t_alt_count":7,"n_depth":114,"all_effects":"BUB1B,missense_variant,p.N123S,ENST00000287598,NM_001211.6,c.368A>G,MODERATE,,tolerated(0.85),benign(0),1;BUB1B,missense_variant,p.N137S,ENST00000412359,,c.410A>G,MODERATE,YES,tolerated(0.84),benign(0),1;BUB1B,non_coding_transcript_exon_variant,,ENST00000560120,,n.422A>G,MODIFIER,,,,1;BUB1B,intron_variant,,ENST00000559414,,n.452+94A>G,MODIFIER,,,,1;BUB1B,downstream_gene_variant,,ENST00000558715,,,MODIFIER,,,,1","Allele":"G","Gene":"ENSG00000156970","Feature":"ENST00000287598","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"520/3669","CDS_position":"368/3153","Protein_position":"123/1050","Amino_acids":"N/S","Codons":"aAt/aGt","Existing_variation":"rs759232092","TRANSCRIPT_STRAND":1,"SYMBOL":"BUB1B","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:1149","BIOTYPE":"protein_coding","CCDS":"CCDS10053.1","ENSP":"ENSP00000287598","SWISSPROT":"O60566.204","UNIPARC":"UPI000006E699","UNIPROT_ISOFORM":"O60566-1","RefSeq":"NM_001211.6","MANE":"NM_001211.6","APPRIS":"P1","SIFT":"tolerated(0.85)","PolyPhen":"benign(0)","EXON":"4/23","DOMAINS":"PDB-ENSP_mappings:2wvi.A;PDB-ENSP_mappings:3si5.A;PDB-ENSP_mappings:3si5.B;PDB-ENSP_mappings:5khu.Q;PDB-ENSP_mappings:5lcw.S;PDB-ENSP_mappings:6tlj.S;PROSITE_profiles:PS51489;PANTHER:PTHR14030:SF15;PANTHER:PTHR14030;Pfam:PF08311;Gene3D:1.25.40.430;SMART:SM00777","gnomAD_AF":"7.959e-06","gnomAD_AFR_AF":"6.155e-05","gnomAD_AMR_AF":"0","gnomAD_ASJ_AF":"0","gnomAD_EAS_AF":"0","gnomAD_FIN_AF":"0","gnomAD_NFE_AF":"8.799e-06","gnomAD_OTH_AF":"0","gnomAD_SAS_AF":"0","MAX_AF":"6.155e-05","MAX_AF_POPS":"gnomAD_AFR","IMPACT":"MODERATE","VARIANT_CLASS":"SNV","TSL":1,"GENE_PHENO":"1","CONTEXT":"TCTCAATCTCT","tumor_bam_uuid":"1cf92bb6-d15e-4fe2-84d5-b55215b228ad","normal_bam_uuid":"3ae13c21-3d20-4112-adce-46f8c028f0db","case_id":"e44e279b-103e-436e-8988-1139b000bdfd","hotspot":"N","RNA_Support":"Unknown","callers":"mutect2;varscan2"}
{"X1":"344","Hugo_Symbol":"PLPPR4","Entrez_Gene_Id":9890,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr1","Start_Position":99301857,"End_Position":99301857,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"A","Tumor_Seq_Allele1":"A","Tumor_Seq_Allele2":"C","Tumor_Sample_Barcode":"TCGA-44-2656-01A-12D-A27T-08","Matched_Norm_Sample_Barcode":"TCGA-44-2656-10A-01D-0969-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"e368fa33-7cd5-4038-a787-6bc82378a386","Matched_Norm_Sample_UUID":"03b8420d-480f-48e1-88a7-8ee9917049a6","HGVSc":"c.926A>C","HGVSp":"p.Tyr309Ser","HGVSp_Short":"p.Y309S","Transcript_ID":"ENST00000370185","Exon_Number":"6/7","t_depth":132,"t_ref_count":126,"t_alt_count":6,"n_depth":73,"all_effects":"PLPPR4,missense_variant,p.Y309S,ENST00000370185,NM_014839.4,c.926A>C,MODERATE,YES,deleterious(0.02),probably_damaging(0.974),1;PLPPR4,missense_variant,p.Y151S,ENST00000370184,,c.452A>C,MODERATE,,deleterious(0),possibly_damaging(0.907),1;PLPPR4,intron_variant,,ENST00000457765,NM_001166252.1,c.792+891A>C,MODIFIER,,,,1","Allele":"C","Gene":"ENSG00000117600","Feature":"ENST00000370185","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"1423/5369","CDS_position":"926/2292","Protein_position":"309/763","Amino_acids":"Y/S","Codons":"tAt/tCt","Existing_variation":"COSV64564647","TRANSCRIPT_STRAND":1,"SYMBOL":"PLPPR4","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:23496","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS757.1","ENSP":"ENSP00000359204","SWISSPROT":"Q7Z2D5.128","UNIPARC":"UPI0000161229","UNIPROT_ISOFORM":"Q7Z2D5-1","RefSeq":"NM_014839.4","APPRIS":"P1","SIFT":"deleterious(0.02)","PolyPhen":"probably_damaging(0.974)","EXON":"6/7","DOMAINS":"Transmembrane_helices:TMhelix;CDD:cd03384;PANTHER:PTHR10165:SF13;PANTHER:PTHR10165;Gene3D:1.20.144.10;Pfam:PF01569;SMART:SM00014;Superfamily:SSF48317","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","CONTEXT":"TGTCTATTGTG","tumor_bam_uuid":"4dba7a4d-7c8b-4072-ab26-5bb93c0335be","normal_bam_uuid":"ada4ffdf-3ba5-4ad0-8eb4-634d04b2b9b8","case_id":"42ca54fc-c1ae-41cd-bca1-7fe9810db460","COSMIC":"COSM6064444;COSM6064445","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2"}
{"X1":"451","Hugo_Symbol":"YLPM1","Entrez_Gene_Id":56252,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr14","Start_Position":74829288,"End_Position":74829288,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"A","Tumor_Seq_Allele1":"A","Tumor_Seq_Allele2":"G","Tumor_Sample_Barcode":"TCGA-05-4397-01A-01D-1265-08","Matched_Norm_Sample_Barcode":"TCGA-05-4397-10A-01D-1265-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"4b7be121-49af-4a44-95dd-0a487d47228f","Matched_Norm_Sample_UUID":"abaccb0a-5f60-45d6-aea2-6fb33a82b011","HGVSc":"c.6239A>G","HGVSp":"p.Tyr2080Cys","HGVSp_Short":"p.Y2080C","Transcript_ID":"ENST00000325680","Exon_Number":"19/21","t_depth":109,"t_ref_count":74,"t_alt_count":35,"n_depth":114,"all_effects":"YLPM1,missense_variant,p.Y2080C,ENST00000325680,NM_019589.3,c.6239A>G,MODERATE,YES,deleterious(0),probably_damaging(0.988),1;YLPM1,missense_variant,p.Y1374C,ENST00000552421,,c.4121A>G,MODERATE,,deleterious_low_confidence(0),probably_damaging(0.996),1;YLPM1,intron_variant,,ENST00000554107,,c.205+8151A>G,MODIFIER,,,,1;YLPM1,downstream_gene_variant,,ENST00000546901,,,MODIFIER,,,,1;YLPM1,3_prime_UTR_variant,,ENST00000549293,,c.*58A>G,MODIFIER,,,,1;YLPM1,non_coding_transcript_exon_variant,,ENST00000550021,,n.406A>G,MODIFIER,,,,1","Allele":"G","Gene":"ENSG00000119596","Feature":"ENST00000325680","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"6413/8195","CDS_position":"6239/6441","Protein_position":"2080/2146","Amino_acids":"Y/C","Codons":"tAt/tGt","Existing_variation":"COSV57821625","TRANSCRIPT_STRAND":1,"SYMBOL":"YLPM1","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:17798","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS45135.1","ENSP":"ENSP00000324463","SWISSPROT":"P49750.159","UNIPARC":"UPI00006C1433","UNIPROT_ISOFORM":"P49750-4","RefSeq":"NM_019589.3","MANE":"NM_019589.3","APPRIS":"P3","SIFT":"deleterious(0)","PolyPhen":"probably_damaging(0.988)","EXON":"19/21","DOMAINS":"PANTHER:PTHR13413","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":5,"PHENO":"1","CONTEXT":"GGATTATCTTC","tumor_bam_uuid":"539739e4-b59c-49ef-a7a5-3d597dd16ce4","normal_bam_uuid":"27b8d631-9c36-467c-a49a-d278004e906e","case_id":"6dfd47d2-831a-4386-9051-f78199a16bb5","COSMIC":"COSM6076368","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"27","Hugo_Symbol":"RHO","Entrez_Gene_Id":6010,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr3","Start_Position":129533655,"End_Position":129533655,"Strand":"+","Variant_Classification":"Silent","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-44-7667-01A-31D-2063-08","Matched_Norm_Sample_Barcode":"TCGA-44-7667-10A-01D-2063-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"2d2ebef2-26f9-4b4f-95b6-82d056051c52","Matched_Norm_Sample_UUID":"87619ebc-a51c-4b54-b911-d472f108df9e","HGVSc":"c.984G>A","HGVSp":"p.Leu328=","HGVSp_Short":"p.L328=","Transcript_ID":"ENST00000296271","Exon_Number":"5/5","t_depth":144,"t_ref_count":136,"t_alt_count":8,"n_depth":207,"all_effects":"RHO,synonymous_variant,p.L328=,ENST00000296271,NM_000539.3,c.984G>A,LOW,YES,,,1","Allele":"A","Gene":"ENSG00000163914","Feature":"ENST00000296271","Feature_type":"Transcript","One_Consequence":"synonymous_variant","Consequence":"synonymous_variant","cDNA_position":"1079/2768","CDS_position":"984/1047","Protein_position":"328/348","Amino_acids":"L","Codons":"ctG/ctA","Existing_variation":"COSV56213728","TRANSCRIPT_STRAND":1,"SYMBOL":"RHO","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:10012","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS3063.1","ENSP":"ENSP00000296271","SWISSPROT":"P08100.220","UNIPARC":"UPI0000046CE6","RefSeq":"NM_000539.3","MANE":"NM_000539.3","APPRIS":"P1","EXON":"5/5","DOMAINS":"PDB-ENSP_mappings:4zwj.A;PDB-ENSP_mappings:4zwj.B;PDB-ENSP_mappings:4zwj.C;PDB-ENSP_mappings:4zwj.D;PDB-ENSP_mappings:5dgy.A;PDB-ENSP_mappings:5dgy.B;PDB-ENSP_mappings:5dgy.C;PDB-ENSP_mappings:5dgy.D;PDB-ENSP_mappings:5w0p.A;PDB-ENSP_mappings:5w0p.B;PDB-ENSP_mappings:5w0p.C;PDB-ENSP_mappings:5w0p.D;Gene3D:1.20.1070.10;Superfamily:SSF81321;PANTHER:PTHR24240;PANTHER:PTHR24240:SF15;Prints:PR00579","SOMATIC":"1","IMPACT":"LOW","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","GENE_PHENO":"1","CONTEXT":"CCACTGGGTGA","tumor_bam_uuid":"dfe670d2-616a-4a8a-a84d-315cad597a87","normal_bam_uuid":"126618b9-43e8-4fe0-84b1-15a975479256","case_id":"7f6455e8-fa3d-4452-acb2-8c9995073072","COSMIC":"COSM6163249","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2"}
{"X1":"275","Hugo_Symbol":"FRMPD3","Entrez_Gene_Id":84443,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chrX","Start_Position":107600686,"End_Position":107600686,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-NJ-A4YI-01A-11D-A25L-08","Matched_Norm_Sample_Barcode":"TCGA-NJ-A4YI-10A-01D-A25L-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"ec03a498-ed86-4fd5-85b5-0db69df0e0b5","Matched_Norm_Sample_UUID":"9dd6f104-86f9-4e33-bef4-d578f541c9ea","HGVSc":"c.2746C>A","HGVSp":"p.Pro916Thr","HGVSp_Short":"p.P916T","Transcript_ID":"ENST00000276185","Exon_Number":"16/16","t_depth":13,"t_ref_count":8,"t_alt_count":5,"n_depth":25,"all_effects":"FRMPD3,missense_variant,p.P916T,ENST00000276185,NM_032428.2,c.2746C>A,MODERATE,YES,tolerated_low_confidence(0.12),benign(0.082),1;FRMPD3,missense_variant,p.P864T,ENST00000439554,,c.2590C>A,MODERATE,,tolerated_low_confidence(0.12),benign(0.082),1","Allele":"A","Gene":"ENSG00000147234","Feature":"ENST00000276185","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"2746/7304","CDS_position":"2746/5433","Protein_position":"916/1810","Amino_acids":"P/T","Codons":"Cca/Aca","Existing_variation":"COSV52190940","TRANSCRIPT_STRAND":1,"SYMBOL":"FRMPD3","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:29382","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS76006.1","ENSP":"ENSP00000276185","SWISSPROT":"Q5JV73.121","UNIPARC":"UPI00006C1C33","RefSeq":"NM_032428.2","APPRIS":"P1","SIFT":"tolerated_low_confidence(0.12)","PolyPhen":"benign(0.082)","EXON":"16/16","DOMAINS":"PANTHER:PTHR46221;PANTHER:PTHR46221:SF1","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":5,"PHENO":"1","CONTEXT":"TGTCCCCACAG","tumor_bam_uuid":"0ee77f29-1caf-4583-a8d4-d62672e8b803","normal_bam_uuid":"266d4e02-fb33-44ed-9366-603c0911c8e0","case_id":"2c03141e-a0bd-4e8d-91e4-9744d139ccce","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"494","Hugo_Symbol":"OTULINL","Entrez_Gene_Id":54491,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr5","Start_Position":14601410,"End_Position":14601410,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"C","dbSNP_RS":"novel","Tumor_Sample_Barcode":"TCGA-17-Z021-01A-01W-0746-08","Matched_Norm_Sample_Barcode":"TCGA-17-Z021-11A-01W-0746-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"9394b536-cd08-414b-86a3-c6491f967709","Matched_Norm_Sample_UUID":"a1ff951a-725c-47d8-b214-82737a73f2dd","HGVSc":"c.316G>C","HGVSp":"p.Gly106Arg","HGVSp_Short":"p.G106R","Transcript_ID":"ENST00000274217","Exon_Number":"4/8","t_depth":79,"t_ref_count":70,"t_alt_count":9,"n_depth":111,"all_effects":"OTULINL,missense_variant,p.G106R,ENST00000274217,NM_019018.3,c.316G>C,MODERATE,YES,deleterious(0),probably_damaging(0.974),1;OTULINL,intron_variant,,ENST00000513825,,n.192+166G>C,MODIFIER,,,,1","Allele":"C","Gene":"ENSG00000145569","Feature":"ENST00000274217","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"419/7040","CDS_position":"316/1071","Protein_position":"106/356","Amino_acids":"G/R","Codons":"Gga/Cga","TRANSCRIPT_STRAND":1,"SYMBOL":"OTULINL","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:25629","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS3884.1","ENSP":"ENSP00000274217","SWISSPROT":"Q9NUU6.114","UNIPARC":"UPI000004A036","RefSeq":"NM_019018.3","MANE":"NM_019018.3","APPRIS":"P1","SIFT":"deleterious(0)","PolyPhen":"probably_damaging(0.974)","EXON":"4/8","DOMAINS":"PDB-ENSP_mappings:6drm.A;Pfam:PF16218;Prints:PR02055;PANTHER:PTHR33662;PANTHER:PTHR33662:SF1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"CONTEXT":"GGAAAGGAGAG","tumor_bam_uuid":"956a7bca-cbe3-4ac9-81a9-0096e5da2eb5","normal_bam_uuid":"d6de1d61-ee0e-4929-b998-cefd01a4f8cc","case_id":"a56d2b48-375d-4193-91a9-f589c39523fb","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"238","Hugo_Symbol":"VPS13C","Entrez_Gene_Id":54832,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr15","Start_Position":61919365,"End_Position":61919365,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"G","Tumor_Sample_Barcode":"TCGA-78-8640-01A-11D-2393-08","Matched_Norm_Sample_Barcode":"TCGA-78-8640-11A-01D-2393-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"c50986c8-b096-4ca6-9afe-ad02977329cb","Matched_Norm_Sample_UUID":"dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11","HGVSc":"c.7562G>C","HGVSp":"p.Ser2521Thr","HGVSp_Short":"p.S2521T","Transcript_ID":"ENST00000644861","Exon_Number":"58/85","t_depth":146,"t_ref_count":123,"t_alt_count":23,"n_depth":163,"all_effects":"VPS13C,missense_variant,p.S2521T,ENST00000645819,NM_001018088.2,c.7562G>C,MODERATE,,tolerated(0.05),benign(0.003),-1;VPS13C,missense_variant,p.S2521T,ENST00000644861,NM_020821.3,c.7562G>C,MODERATE,YES,tolerated(0.16),benign(0),-1;VPS13C,missense_variant,p.S2478T,ENST00000249837,NM_017684.5,c.7433G>C,MODERATE,,tolerated(0.16),benign(0),-1;VPS13C,missense_variant,p.S2478T,ENST00000395898,NM_018080.3,c.7433G>C,MODERATE,,tolerated(0.05),benign(0.003),-1;VPS13C,missense_variant,p.S58T,ENST00000649766,,c.173G>C,MODERATE,,tolerated(0.17),benign(0.003),-1;VPS13C,3_prime_UTR_variant,,ENST00000650094,,c.*1771G>C,MODIFIER,,,,-1;VPS13C,upstream_gene_variant,,ENST00000558338,,,MODIFIER,,,,-1;AC009554.1,intron_variant,,ENST00000642740,,n.317-7764C>G,MODIFIER,YES,,,1","Allele":"G","Gene":"ENSG00000129003","Feature":"ENST00000644861","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"7635/13403","CDS_position":"7562/11262","Protein_position":"2521/3753","Amino_acids":"S/T","Codons":"aGt/aCt","Existing_variation":"COSV99827710","TRANSCRIPT_STRAND":-1,"SYMBOL":"VPS13C","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:23594","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS32257.1","ENSP":"ENSP00000493560","SWISSPROT":"Q709C8.130","UNIPARC":"UPI000023B7D3","UNIPROT_ISOFORM":"Q709C8-1","RefSeq":"NM_020821.3","MANE":"NM_020821.3","APPRIS":"A2","SIFT":"tolerated(0.16)","PolyPhen":"benign(0)","EXON":"58/85","DOMAINS":"PANTHER:PTHR16166;PANTHER:PTHR16166:SF69","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","PHENO":"1","GENE_PHENO":"1","CONTEXT":"AATGACTGGCA","tumor_bam_uuid":"a4437afd-b85a-4e7c-8a73-e91011ebf31c","normal_bam_uuid":"f0290fd0-31e2-49b3-8cec-7eb7b425f0c7","case_id":"18478121-f1d1-4bdd-9511-8ab22f4a0660","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"546","Hugo_Symbol":"GPR182","Entrez_Gene_Id":11318,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr12","Start_Position":56995566,"End_Position":56995566,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"C","Tumor_Sample_Barcode":"TCGA-86-A4JF-01A-11D-A24P-08","Matched_Norm_Sample_Barcode":"TCGA-86-A4JF-10A-01D-A24P-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"4b2dfe24-4585-47f8-8f97-04f734e3e38b","Matched_Norm_Sample_UUID":"637afdad-87c7-4832-9235-506369a19d1b","HGVSc":"c.357G>C","HGVSp":"p.Trp119Cys","HGVSp_Short":"p.W119C","Transcript_ID":"ENST00000300098","Exon_Number":"2/2","t_depth":79,"t_ref_count":68,"t_alt_count":11,"n_depth":91,"all_effects":"GPR182,missense_variant,p.W119C,ENST00000300098,NM_007264.4,c.357G>C,MODERATE,YES,deleterious(0),probably_damaging(1),1;ZBTB39,downstream_gene_variant,,ENST00000300101,NM_014830.3,,MODIFIER,YES,,,-1;GPR182,upstream_gene_variant,,ENST00000556850,,,MODIFIER,,,,1;GPR182,upstream_gene_variant,,ENST00000622922,,,MODIFIER,,,,1;AC026120.3,downstream_gene_variant,,ENST00000670536,,,MODIFIER,YES,,,1","Allele":"C","Gene":"ENSG00000166856","Feature":"ENST00000300098","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"530/3411","CDS_position":"357/1215","Protein_position":"119/404","Amino_acids":"W/C","Codons":"tgG/tgC","Existing_variation":"COSV100267801","TRANSCRIPT_STRAND":1,"SYMBOL":"GPR182","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:13708","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS8927.1","ENSP":"ENSP00000300098","SWISSPROT":"O15218.156","UNIPARC":"UPI0000001652","RefSeq":"NM_007264.4","MANE":"NM_007264.4","APPRIS":"P1","SIFT":"deleterious(0)","PolyPhen":"probably_damaging(1)","EXON":"2/2","DOMAINS":"PROSITE_profiles:PS50262;CDD:cd14988;PANTHER:PTHR24226:SF0;PANTHER:PTHR24226;Pfam:PF00001;Gene3D:1.20.1070.10;Superfamily:SSF81321","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","CONTEXT":"ACCTGGCTCTG","tumor_bam_uuid":"e988c1dd-0c18-4eaa-a9f2-01e66a8a8f02","normal_bam_uuid":"b556a555-a6a3-497e-8732-01eaf8f20c08","case_id":"e01e4fb3-236a-4d16-9073-555876b688e9","hotspot":"N","RNA_Support":"Unknown","callers":"mutect2;varscan2"}
{"X1":"43","Hugo_Symbol":"DEPDC1","Entrez_Gene_Id":55635,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr1","Start_Position":68494485,"End_Position":68494485,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"A","dbSNP_RS":"novel","Tumor_Sample_Barcode":"TCGA-17-Z028-01A-01W-0746-08","Matched_Norm_Sample_Barcode":"TCGA-17-Z028-11A-01W-0746-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"1f55fb6e-342a-41e0-9a8e-7c5156c95eaa","Matched_Norm_Sample_UUID":"db39d913-94bb-4e90-8fea-7b6080f9303e","HGVSc":"c.259G>T","HGVSp":"p.Asp87Tyr","HGVSp_Short":"p.D87Y","Transcript_ID":"ENST00000456315","Exon_Number":"2/12","t_depth":32,"t_ref_count":26,"t_alt_count":6,"n_depth":17,"all_effects":"DEPDC1,missense_variant,p.D87Y,ENST00000456315,NM_001114120.3,c.259G>T,MODERATE,YES,deleterious(0),probably_damaging(1),-1;DEPDC1,missense_variant,p.D87Y,ENST00000370966,NM_017779.6,c.259G>T,MODERATE,,deleterious(0),probably_damaging(0.992),-1;DEPDC1,intron_variant,,ENST00000525124,,c.-350+2467G>T,MODIFIER,,,,-1;DEPDC1,missense_variant,p.D17Y,ENST00000489862,,c.49G>T,MODERATE,,deleterious(0),probably_damaging(1),-1;DEPDC1-AS1,upstream_gene_variant,,ENST00000428732,,,MODIFIER,YES,,,1","Allele":"A","Gene":"ENSG00000024526","Feature":"ENST00000456315","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"342/5299","CDS_position":"259/2436","Protein_position":"87/811","Amino_acids":"D/Y","Codons":"Gat/Tat","TRANSCRIPT_STRAND":-1,"SYMBOL":"DEPDC1","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:22949","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS44159.1","ENSP":"ENSP00000412292","SWISSPROT":"Q5TB30.133","UNIPARC":"UPI0000204557","UNIPROT_ISOFORM":"Q5TB30-5","RefSeq":"NM_001114120.3","MANE":"NM_001114120.3","SIFT":"deleterious(0)","PolyPhen":"probably_damaging(1)","EXON":"2/12","DOMAINS":"PDB-ENSP_mappings:2ysr.A;PROSITE_profiles:PS50186;PANTHER:PTHR16206;PANTHER:PTHR16206:SF12;Gene3D:1.10.10.10;Pfam:PF00610;SMART:SM00049;Superfamily:SSF46785","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"CONTEXT":"GATATCTTCAA","tumor_bam_uuid":"3d22cfca-1c61-41ec-a983-e449429bec92","normal_bam_uuid":"cef25629-f5c4-483a-ae82-32e3f12d421b","case_id":"87eeaf49-3c02-402f-9ae4-3627391e7749","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"338","Hugo_Symbol":"ADCY8","Entrez_Gene_Id":114,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr8","Start_Position":131039651,"End_Position":131039651,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-05-5428-01A-01D-1625-08","Matched_Norm_Sample_Barcode":"TCGA-05-5428-10A-01D-1625-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"7744a93b-0565-4d83-afad-caa02358f258","Matched_Norm_Sample_UUID":"dec1c310-fc25-46c5-9151-0edf5a725adc","HGVSc":"c.683C>T","HGVSp":"p.Ala228Val","HGVSp_Short":"p.A228V","Transcript_ID":"ENST00000286355","Exon_Number":"1/18","t_depth":60,"t_ref_count":51,"t_alt_count":9,"n_depth":45,"all_effects":"ADCY8,missense_variant,p.A228V,ENST00000286355,NM_001115.3,c.683C>T,MODERATE,YES,tolerated(1),benign(0.001),-1;ADCY8,missense_variant,p.A228V,ENST00000377928,,c.683C>T,MODERATE,,tolerated(0.97),benign(0.001),-1","Allele":"A","Gene":"ENSG00000155897","Feature":"ENST00000286355","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"1259/4421","CDS_position":"683/3756","Protein_position":"228/1251","Amino_acids":"A/V","Codons":"gCc/gTc","Existing_variation":"COSV53908135","TRANSCRIPT_STRAND":-1,"SYMBOL":"ADCY8","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:239","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS6363.1","ENSP":"ENSP00000286355","SWISSPROT":"P40145.179","TREMBL":"A0A0K0K1K3.37","UNIPARC":"UPI000012887C","RefSeq":"NM_001115.3","MANE":"NM_001115.3","APPRIS":"P1","SIFT":"tolerated(1)","PolyPhen":"benign(0.001)","EXON":"1/18","DOMAINS":"Pfam:PF16214;PIRSF:PIRSF039050;PANTHER:PTHR45627;PANTHER:PTHR45627:SF5;Transmembrane_helices:TMhelix","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","CONTEXT":"CCAGGGCGCAG","tumor_bam_uuid":"3b8cb782-2515-4d20-9902-e549de711d99","normal_bam_uuid":"55747b35-f3bf-49c6-994e-12692f610cf8","case_id":"3fe8f8e4-5396-4362-82f5-366e2fb69db2","COSMIC":"COSM6112482","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"447","Hugo_Symbol":"GRM7","Entrez_Gene_Id":2917,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr3","Start_Position":7578848,"End_Position":7578848,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-35-4123-01A-01D-1105-08","Matched_Norm_Sample_Barcode":"TCGA-35-4123-10A-01D-1105-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"7ceccaee-df27-4f7f-bfcd-e1c59b365711","Matched_Norm_Sample_UUID":"b5b71aef-8a1b-4f37-a875-e683bb10a1d3","HGVSc":"c.1942G>A","HGVSp":"p.Ala648Thr","HGVSp_Short":"p.A648T","Transcript_ID":"ENST00000357716","Exon_Number":"8/10","t_depth":241,"t_ref_count":226,"t_alt_count":15,"n_depth":183,"all_effects":"GRM7,missense_variant,p.A648T,ENST00000486284,NM_181874.2,c.1942G>A,MODERATE,YES,deleterious(0.04),benign(0.26),1;GRM7,missense_variant,p.A648T,ENST00000357716,NM_000844.4,c.1942G>A,MODERATE,,deleterious(0.04),probably_damaging(0.992),1;GRM7,missense_variant,p.A648T,ENST00000389336,,c.1942G>A,MODERATE,,deleterious(0.04),probably_damaging(0.987),1;GRM7,missense_variant,p.A403T,ENST00000402647,,c.1207G>A,MODERATE,,deleterious(0.02),benign(0.26),1;GRM7,downstream_gene_variant,,ENST00000445087,,,MODIFIER,,,,1;GRM7,non_coding_transcript_exon_variant,,ENST00000458641,,n.1146G>A,MODIFIER,,,,1;GRM7,missense_variant,p.A648T,ENST00000467425,,c.1942G>A,MODERATE,,deleterious(0.04),benign(0.26),1;GRM7,missense_variant,p.A648T,ENST00000440923,,c.1942G>A,MODERATE,,tolerated(0.06),probably_damaging(0.997),1;GRM7,missense_variant,p.A648T,ENST00000389335,,c.1942G>A,MODERATE,,deleterious(0.02),probably_damaging(0.987),1;GRM7,non_coding_transcript_exon_variant,,ENST00000463676,,n.1207G>A,MODIFIER,,,,1","Allele":"A","Gene":"ENSG00000196277","Feature":"ENST00000357716","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"2216/4149","CDS_position":"1942/2748","Protein_position":"648/915","Amino_acids":"A/T","Codons":"Gcc/Acc","Existing_variation":"COSV63156270","TRANSCRIPT_STRAND":1,"SYMBOL":"GRM7","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:4599","BIOTYPE":"protein_coding","CCDS":"CCDS43042.1","ENSP":"ENSP00000350348","SWISSPROT":"Q14831.171","UNIPARC":"UPI000004A7E3","UNIPROT_ISOFORM":"Q14831-1","RefSeq":"NM_000844.4","MANE":"NM_000844.4","APPRIS":"P4","SIFT":"deleterious(0.04)","PolyPhen":"probably_damaging(0.992)","EXON":"8/10","DOMAINS":"Pfam:PF00003;PROSITE_profiles:PS50259;PANTHER:PTHR24060;PANTHER:PTHR24060:SF98;CDD:cd15451","SOMATIC":"1","IMPACT":"MODERATE","VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","CONTEXT":"TGATTGCCAAA","tumor_bam_uuid":"6265126e-8134-482c-9af5-35122eb9a577","normal_bam_uuid":"3703fe78-0fdc-4c98-9c0f-4cec0f456f05","case_id":"6cf49cf0-de4c-4c90-8358-eae19c6206b0","COSMIC":"COSM6098591;COSM6098592;COSM6098593;COSM6098594","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2"}
{"X1":"194","Hugo_Symbol":"GPR158","Entrez_Gene_Id":57512,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr10","Start_Position":25598833,"End_Position":25598833,"Strand":"+","Variant_Classification":"Silent","Variant_Type":"SNP","Reference_Allele":"T","Tumor_Seq_Allele1":"T","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-44-A4SS-01A-11D-A24P-08","Matched_Norm_Sample_Barcode":"TCGA-44-A4SS-10A-01D-A24P-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"2e0426ee-0178-4925-a895-851f9b7a1b00","Matched_Norm_Sample_UUID":"1e16ed84-9e7e-4ab6-a83b-a03ab0308fed","HGVSc":"c.3207T>A","HGVSp":"p.Ala1069=","HGVSp_Short":"p.A1069=","Transcript_ID":"ENST00000376351","Exon_Number":"11/11","t_depth":161,"t_ref_count":141,"t_alt_count":20,"n_depth":122,"all_effects":"GPR158,synonymous_variant,p.A1069=,ENST00000376351,NM_020752.3,c.3207T>A,LOW,YES,,,1;GPR158,synonymous_variant,p.A990=,ENST00000650135,,c.2970T>A,LOW,,,,1;GPR158,non_coding_transcript_exon_variant,,ENST00000490549,,n.1394T>A,MODIFIER,,,,1","Allele":"A","Gene":"ENSG00000151025","Feature":"ENST00000376351","Feature_type":"Transcript","One_Consequence":"synonymous_variant","Consequence":"synonymous_variant","cDNA_position":"3627/7023","CDS_position":"3207/3648","Protein_position":"1069/1215","Amino_acids":"A","Codons":"gcT/gcA","Existing_variation":"COSV100892957","TRANSCRIPT_STRAND":1,"SYMBOL":"GPR158","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:23689","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS31166.1","ENSP":"ENSP00000365529","SWISSPROT":"Q5T848.123","UNIPARC":"UPI0000199875","RefSeq":"NM_020752.3","MANE":"NM_020752.3","APPRIS":"P2","EXON":"11/11","DOMAINS":"PANTHER:PTHR32546;PANTHER:PTHR32546:SF11","SOMATIC":"1","IMPACT":"LOW","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","CONTEXT":"AAGGCTGAAGT","tumor_bam_uuid":"06bce008-ce08-4f52-9d2f-4334afd4a7c1","normal_bam_uuid":"be8d4d48-2440-46e0-8098-6f0cf679bff9","case_id":"f934ed41-090e-4313-bbc5-d1a4a9ed9ad7","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"325","Hugo_Symbol":"IBTK","Entrez_Gene_Id":25998,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr6","Start_Position":82218128,"End_Position":82218128,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"A","Tumor_Seq_Allele1":"A","Tumor_Seq_Allele2":"T","Tumor_Sample_Barcode":"TCGA-95-7567-01A-11D-2063-08","Matched_Norm_Sample_Barcode":"TCGA-95-7567-10A-01D-2063-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"118e528b-c07f-4c32-a2dd-3f098916f81d","Matched_Norm_Sample_UUID":"97f1e89e-69ae-476b-9dba-d46e08f126d1","HGVSc":"c.1258T>A","HGVSp":"p.Trp420Arg","HGVSp_Short":"p.W420R","Transcript_ID":"ENST00000306270","Exon_Number":"10/29","t_depth":17,"t_ref_count":9,"t_alt_count":8,"n_depth":38,"all_effects":"IBTK,missense_variant,p.W420R,ENST00000306270,NM_015525.4,c.1258T>A,MODERATE,YES,deleterious(0),probably_damaging(0.999),-1;IBTK,missense_variant,p.W420R,ENST00000610980,,c.1258T>A,MODERATE,,deleterious(0),probably_damaging(0.997),-1;IBTK,missense_variant,p.W420R,ENST00000510291,NM_001300906.2,c.1258T>A,MODERATE,,deleterious(0),probably_damaging(0.999),-1;IBTK,missense_variant,p.W420R,ENST00000503631,,c.1258T>A,MODERATE,,deleterious(0),probably_damaging(0.997),-1;IBTK,3_prime_UTR_variant,,ENST00000503400,,c.*569T>A,MODIFIER,,,,-1;IBTK,non_coding_transcript_exon_variant,,ENST00000505222,,n.1337T>A,MODIFIER,,,,-1;IBTK,non_coding_transcript_exon_variant,,ENST00000369751,,n.1808T>A,MODIFIER,,,,-1","Allele":"T","Gene":"ENSG00000005700","Feature":"ENST00000306270","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"1798/6040","CDS_position":"1258/4062","Protein_position":"420/1353","Amino_acids":"W/R","Codons":"Tgg/Agg","Existing_variation":"COSV100091407","TRANSCRIPT_STRAND":-1,"SYMBOL":"IBTK","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:17853","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS34490.1","ENSP":"ENSP00000305721","SWISSPROT":"Q9P2D0.157","UNIPARC":"UPI000041929F","UNIPROT_ISOFORM":"Q9P2D0-1","RefSeq":"NM_015525.4","MANE":"NM_015525.4","APPRIS":"P4","SIFT":"deleterious(0)","PolyPhen":"probably_damaging(0.999)","EXON":"10/29","DOMAINS":"Gene3D:2.130.10.30;PANTHER:PTHR22872;PANTHER:PTHR22872:SF5","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","CONTEXT":"TCTCCAGCAAA","tumor_bam_uuid":"ae16ff91-da07-4aab-a9b6-180e0e9d510e","normal_bam_uuid":"60329fff-6ee8-4d48-9ebb-58fe4a29e714","case_id":"3bc7026f-73f2-418b-bd62-f4768582b790","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"391","Hugo_Symbol":"GRID2","Entrez_Gene_Id":2895,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr4","Start_Position":93515359,"End_Position":93515359,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"T","Tumor_Sample_Barcode":"TCGA-55-8620-01A-11D-2393-08","Matched_Norm_Sample_Barcode":"TCGA-55-8620-10A-01D-2393-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"e943b4bc-28eb-4b2c-b985-7109b3166c4e","Matched_Norm_Sample_UUID":"7f3eeb3e-4c2e-46f4-ab29-7e060c926b56","HGVSc":"c.2141G>T","HGVSp":"p.Arg714Leu","HGVSp_Short":"p.R714L","Transcript_ID":"ENST00000282020","Exon_Number":"13/16","t_depth":102,"t_ref_count":37,"t_alt_count":65,"n_depth":107,"all_effects":"GRID2,missense_variant,p.R714L,ENST00000282020,NM_001510.4,c.2141G>T,MODERATE,YES,tolerated(0.05),probably_damaging(0.956),1;GRID2,missense_variant,p.R633L,ENST00000611049,,c.1898G>T,MODERATE,,tolerated(0.06),probably_damaging(0.956),1;GRID2,missense_variant,p.R619L,ENST00000510992,NM_001286838.1,c.1856G>T,MODERATE,,deleterious(0.04),probably_damaging(0.956),1","Allele":"T","Gene":"ENSG00000152208","Feature":"ENST00000282020","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"2832/5783","CDS_position":"2141/3024","Protein_position":"714/1007","Amino_acids":"R/L","Codons":"cGa/cTa","Existing_variation":"COSV99947612","TRANSCRIPT_STRAND":1,"SYMBOL":"GRID2","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:4576","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS3637.1","ENSP":"ENSP00000282020","SWISSPROT":"O43424.180","UNIPARC":"UPI00001AEA78","UNIPROT_ISOFORM":"O43424-1","RefSeq":"NM_001510.4","MANE":"NM_001510.4","APPRIS":"P1","SIFT":"tolerated(0.05)","PolyPhen":"probably_damaging(0.956)","EXON":"13/16","DOMAINS":"CDD:cd13731;PANTHER:PTHR18966;PANTHER:PTHR18966:SF109;Pfam:PF00060;Gene3D:1.10.287.70;Gene3D:3.40.190.10;Gene3D:3.40.190.10;SMART:SM00079;Superfamily:SSF53850","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","GENE_PHENO":"1","CONTEXT":"CAACCGAAGCA","tumor_bam_uuid":"44a7b1a6-ea92-4537-827f-123554130fdc","normal_bam_uuid":"939df5f6-1fc9-4f0b-8a7b-7074ab0f102a","case_id":"5510ad32-62fd-4adc-964a-ae4e997c2f4b","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"588","Hugo_Symbol":"OR6X1","Entrez_Gene_Id":390260,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr11","Start_Position":123753916,"End_Position":123753916,"Strand":"+","Variant_Classification":"Silent","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"T","dbSNP_RS":"novel","Tumor_Sample_Barcode":"TCGA-17-Z062-01A-01W-0747-08","Matched_Norm_Sample_Barcode":"TCGA-17-Z062-11A-01W-0747-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"f3280e5f-7d6e-4a18-a5a5-e84b805c9e66","Matched_Norm_Sample_UUID":"5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a","HGVSc":"c.603C>A","HGVSp":"p.Thr201=","HGVSp_Short":"p.T201=","Transcript_ID":"ENST00000327930","Exon_Number":"1/1","t_depth":276,"t_ref_count":257,"t_alt_count":18,"n_depth":340,"all_effects":"OR6X1,synonymous_variant,p.T201=,ENST00000327930,NM_001005188.1,c.603C>A,LOW,YES,,,-1","Allele":"T","Gene":"ENSG00000221931","Feature":"ENST00000327930","Feature_type":"Transcript","One_Consequence":"synonymous_variant","Consequence":"synonymous_variant","cDNA_position":"630/1058","CDS_position":"603/939","Protein_position":"201/312","Amino_acids":"T","Codons":"acC/acA","TRANSCRIPT_STRAND":-1,"SYMBOL":"OR6X1","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:14737","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS31695.1","ENSP":"ENSP00000333724","SWISSPROT":"Q8NH79.140","TREMBL":"A0A126GVM0.30","UNIPARC":"UPI000004B1D5","RefSeq":"NM_001005188.1","APPRIS":"P1","EXON":"1/1","DOMAINS":"Gene3D:1.20.1070.10;Pfam:PF13853;PROSITE_profiles:PS50262;PANTHER:PTHR26454;PANTHER:PTHR26454:SF30;Superfamily:SSF81321;CDD:cd15912","IMPACT":"LOW","PICK":1,"VARIANT_CLASS":"SNV","CONTEXT":"AGGATGGTTGC","tumor_bam_uuid":"89f87832-3574-45a7-a060-a1ef69b4b03b","normal_bam_uuid":"dbeb93ce-0b2a-4768-b6d2-eef2df421745","case_id":"f29b5aef-d53e-457d-b140-b0b5fd1960bc","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2"}
{"X1":"344","Hugo_Symbol":"TRPM4","Entrez_Gene_Id":54795,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr19","Start_Position":49200785,"End_Position":49200785,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"T","Tumor_Sample_Barcode":"TCGA-44-2656-01A-12D-A27T-08","Matched_Norm_Sample_Barcode":"TCGA-44-2656-10A-01D-0969-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"e368fa33-7cd5-4038-a787-6bc82378a386","Matched_Norm_Sample_UUID":"03b8420d-480f-48e1-88a7-8ee9917049a6","HGVSc":"c.2953G>T","HGVSp":"p.Val985Leu","HGVSp_Short":"p.V985L","Transcript_ID":"ENST00000252826","Exon_Number":"19/25","t_depth":39,"t_ref_count":24,"t_alt_count":15,"n_depth":71,"all_effects":"TRPM4,missense_variant,p.V985L,ENST00000252826,NM_017636.4&NM_001321282.2&NM_001321281.2&NM_001321283.2&NM_001321285.2,c.2953G>T,MODERATE,YES,tolerated(0.14),benign(0.005),1;TRPM4,missense_variant,p.V840L,ENST00000427978,NM_001195227.2,c.2518G>T,MODERATE,,tolerated(0.09),benign(0.195),1;TRPM4,splice_region_variant,,ENST00000596338,,n.3050G>T,LOW,,,,1;TRPM4,splice_region_variant,,ENST00000595519,,c.*2363G>T,LOW,,,,1;TRPM4,splice_region_variant,,ENST00000598502,,c.*2066G>T,LOW,,,,1;TRPM4,splice_region_variant,,ENST00000598697,,c.*1908G>T,LOW,,,,1;TRPM4,splice_region_variant,,ENST00000595071,,n.1917G>T,LOW,,,,1;TRPM4,downstream_gene_variant,,ENST00000595882,,,MODIFIER,,,,1","Allele":"T","Gene":"ENSG00000130529","Feature":"ENST00000252826","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant;splice_region_variant","cDNA_position":"3028/4058","CDS_position":"2953/3645","Protein_position":"985/1214","Amino_acids":"V/L","Codons":"Gtg/Ttg","Existing_variation":"COSV53259986","TRANSCRIPT_STRAND":1,"SYMBOL":"TRPM4","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:17993","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS33073.1","ENSP":"ENSP00000252826","SWISSPROT":"Q8TD43.144","UNIPARC":"UPI0000070598","UNIPROT_ISOFORM":"Q8TD43-1","RefSeq":"NM_017636.4;NM_001321282.2;NM_001321281.2;NM_001321283.2;NM_001321285.2","MANE":"NM_017636.4","APPRIS":"P1","SIFT":"tolerated(0.14)","PolyPhen":"benign(0.005)","EXON":"19/25","DOMAINS":"PDB-ENSP_mappings:5wp6.A;PDB-ENSP_mappings:5wp6.B;PDB-ENSP_mappings:5wp6.C;PDB-ENSP_mappings:5wp6.D;PDB-ENSP_mappings:6bqr.A;PDB-ENSP_mappings:6bqr.B;PDB-ENSP_mappings:6bqr.C;PDB-ENSP_mappings:6bqr.D;PDB-ENSP_mappings:6bqv.A;PDB-ENSP_mappings:6bqv.B;PDB-ENSP_mappings:6bqv.C;PDB-ENSP_mappings:6bqv.D;PDB-ENSP_mappings:6bwi.A;PDB-ENSP_mappings:6bwi.B;PDB-ENSP_mappings:6bwi.C;PDB-ENSP_mappings:6bwi.D;Pfam:PF00520;PANTHER:PTHR13800;PANTHER:PTHR13800:SF6","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","GENE_PHENO":"1","CONTEXT":"TGGACGGTAGG","tumor_bam_uuid":"4dba7a4d-7c8b-4072-ab26-5bb93c0335be","normal_bam_uuid":"ada4ffdf-3ba5-4ad0-8eb4-634d04b2b9b8","case_id":"42ca54fc-c1ae-41cd-bca1-7fe9810db460","COSMIC":"COSM361987","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"419","Hugo_Symbol":"POLG2","Entrez_Gene_Id":11232,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr17","Start_Position":64496903,"End_Position":64496903,"Strand":"+","Variant_Classification":"Silent","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"T","dbSNP_RS":"novel","Tumor_Sample_Barcode":"TCGA-17-Z036-01A-01W-0746-08","Matched_Norm_Sample_Barcode":"TCGA-17-Z036-11A-01W-0746-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"374b881a-dbe2-4b4b-bfc0-8431f1aec06c","Matched_Norm_Sample_UUID":"b2be574f-5847-43c1-8599-53202a8d1387","HGVSc":"c.66G>A","HGVSp":"p.Gly22=","HGVSp_Short":"p.G22=","Transcript_ID":"ENST00000539111","Exon_Number":"1/8","t_depth":56,"t_ref_count":35,"t_alt_count":21,"n_depth":78,"all_effects":"POLG2,synonymous_variant,p.G22=,ENST00000539111,NM_007215.4,c.66G>A,LOW,YES,,,-1;DDX5,downstream_gene_variant,,ENST00000225792,NM_004396.5,,MODIFIER,,,,-1;DDX5,downstream_gene_variant,,ENST00000450599,,,MODIFIER,,,,-1;DDX5,downstream_gene_variant,,ENST00000577922,NM_001320596.2,,MODIFIER,,,,-1;DDX5,downstream_gene_variant,,ENST00000578804,NM_001320597.2,,MODIFIER,,,,-1;POLG2,upstream_gene_variant,,ENST00000581355,,,MODIFIER,,,,-1;DDX5,downstream_gene_variant,,ENST00000583212,,,MODIFIER,,,,-1;DDX5,downstream_gene_variant,,ENST00000585111,NM_001320595.2,,MODIFIER,YES,,,-1;DDX5,downstream_gene_variant,,ENST00000676785,,,MODIFIER,,,,-1;MIR5047,downstream_gene_variant,,ENST00000579212,,,MODIFIER,YES,,,-1;MIR3064,downstream_gene_variant,,ENST00000581130,,,MODIFIER,YES,,,-1;POLG2,non_coding_transcript_exon_variant,,ENST00000585104,,n.37G>A,MODIFIER,,,,-1;POLG2,upstream_gene_variant,,ENST00000578687,,,MODIFIER,,,,-1;POLG2,upstream_gene_variant,,ENST00000580893,,,MODIFIER,,,,-1;DDX5,downstream_gene_variant,,ENST00000581237,,,MODIFIER,,,,-1;POLG2,synonymous_variant,p.G13=,ENST00000673460,,c.39G>A,LOW,,,,-1;POLG2,synonymous_variant,p.G13=,ENST00000671755,,c.39G>A,LOW,,,,-1;POLG2,non_coding_transcript_exon_variant,,ENST00000585141,,n.117G>A,MODIFIER,,,,-1;DDX5,downstream_gene_variant,,ENST00000540698,,,MODIFIER,,,,-1;DDX5,downstream_gene_variant,,ENST00000578491,,,MODIFIER,,,,-1;DDX5,downstream_gene_variant,,ENST00000578758,,,MODIFIER,,,,-1;POLG2,upstream_gene_variant,,ENST00000578997,,,MODIFIER,,,,-1;DDX5,downstream_gene_variant,,ENST00000579461,,,MODIFIER,,,,-1;DDX5,downstream_gene_variant,,ENST00000580026,,,MODIFIER,,,,-1;DDX5,downstream_gene_variant,,ENST00000581230,,,MODIFIER,,,,-1;DDX5,downstream_gene_variant,,ENST00000581693,,,MODIFIER,,,,-1;DDX5,downstream_gene_variant,,ENST00000582326,,,MODIFIER,,,,-1;DDX5,downstream_gene_variant,,ENST00000585317,,,MODIFIER,,,,-1;DDX5,downstream_gene_variant,,ENST00000676575,,,MODIFIER,,,,-1;DDX5,downstream_gene_variant,,ENST00000676581,,,MODIFIER,,,,-1;DDX5,downstream_gene_variant,,ENST00000676601,,,MODIFIER,,,,-1;DDX5,downstream_gene_variant,,ENST00000676969,,,MODIFIER,,,,-1;DDX5,downstream_gene_variant,,ENST00000677726,,,MODIFIER,,,,-1;DDX5,downstream_gene_variant,,ENST00000678110,,,MODIFIER,,,,-1;DDX5,downstream_gene_variant,,ENST00000678757,,,MODIFIER,,,,-1;DDX5,downstream_gene_variant,,ENST00000678810,,,MODIFIER,,,,-1;DDX5,downstream_gene_variant,,ENST00000678814,,,MODIFIER,,,,-1;DDX5,downstream_gene_variant,,ENST00000678890,,,MODIFIER,,,,-1","Allele":"T","Gene":"ENSG00000256525","Feature":"ENST00000539111","Feature_type":"Transcript","One_Consequence":"synonymous_variant","Consequence":"synonymous_variant","cDNA_position":"152/1582","CDS_position":"66/1458","Protein_position":"22/485","Amino_acids":"G","Codons":"ggG/ggA","TRANSCRIPT_STRAND":-1,"SYMBOL":"POLG2","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:9180","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS32706.1","ENSP":"ENSP00000442563","SWISSPROT":"Q9UHN1.174","TREMBL":"E5KS15.83","UNIPARC":"UPI000012974A","RefSeq":"NM_007215.4","MANE":"NM_007215.4","APPRIS":"P1","EXON":"1/8","DOMAINS":"PDB-ENSP_mappings:3ikl.A;PDB-ENSP_mappings:3ikl.B;PDB-ENSP_mappings:5c51.B;PDB-ENSP_mappings:5c51.C;PDB-ENSP_mappings:5c52.B;PDB-ENSP_mappings:5c52.C;PDB-ENSP_mappings:5c53.B;PDB-ENSP_mappings:5c53.C","IMPACT":"LOW","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"GENE_PHENO":"1","CONTEXT":"CGACCCCCAAA","tumor_bam_uuid":"e66a845d-971c-48c6-9e35-1979db84a7b1","normal_bam_uuid":"19a85511-5d82-41ce-a710-9bee84df2849","case_id":"6313c7cb-5631-42b2-93e2-592f86e84551","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"41","Hugo_Symbol":"ZC3H3","Entrez_Gene_Id":23144,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr8","Start_Position":143475526,"End_Position":143475526,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"T","Tumor_Sample_Barcode":"TCGA-78-7161-01A-11D-2036-08","Matched_Norm_Sample_Barcode":"TCGA-78-7161-10A-01D-2036-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"1d917fa9-30cf-439f-817b-24cf49c459f7","Matched_Norm_Sample_UUID":"944503e4-29da-42c7-addd-fc2218391c88","HGVSc":"c.1775G>A","HGVSp":"p.Gly592Asp","HGVSp_Short":"p.G592D","Transcript_ID":"ENST00000262577","Exon_Number":"5/12","t_depth":52,"t_ref_count":44,"t_alt_count":7,"n_depth":18,"all_effects":"ZC3H3,missense_variant,p.G592D,ENST00000262577,NM_015117.3,c.1775G>A,MODERATE,YES,tolerated(0.31),benign(0.03),-1","Allele":"T","Gene":"ENSG00000014164","Feature":"ENST00000262577","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"1801/3270","CDS_position":"1775/2847","Protein_position":"592/948","Amino_acids":"G/D","Codons":"gGc/gAc","Existing_variation":"COSV52792958","TRANSCRIPT_STRAND":-1,"SYMBOL":"ZC3H3","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:28972","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS6402.1","ENSP":"ENSP00000262577","SWISSPROT":"Q8IXZ2.142","UNIPARC":"UPI0000160D96","UNIPROT_ISOFORM":"Q8IXZ2-1","RefSeq":"NM_015117.3","MANE":"NM_015117.3","APPRIS":"P1","SIFT":"tolerated(0.31)","PolyPhen":"benign(0.03)","EXON":"5/12","DOMAINS":"PANTHER:PTHR46156","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","CONTEXT":"GGGAGCCCGGT","tumor_bam_uuid":"884abc28-5dd3-4676-84af-260ea3289e37","normal_bam_uuid":"55573383-761e-47dc-a886-9f501ad532bb","case_id":"86faf16c-56fd-4b7b-a6b2-b4c83bec93e1","COSMIC":"COSM6180238","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2"}
{"X1":"356","Hugo_Symbol":"LY6K","Entrez_Gene_Id":54742,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr8","Start_Position":142703354,"End_Position":142703354,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"A","dbSNP_RS":"rs144411665","Tumor_Sample_Barcode":"TCGA-86-8056-01A-11D-2238-08","Matched_Norm_Sample_Barcode":"TCGA-86-8056-10A-01D-2238-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"6dc6d500-c7f0-4741-92a5-7a8934a53a1e","Matched_Norm_Sample_UUID":"7cae8f4f-aede-4628-b634-0f0aee76f7eb","HGVSc":"c.481G>A","HGVSp":"p.Gly161Ser","HGVSp_Short":"p.G161S","Transcript_ID":"ENST00000292430","Exon_Number":"3/3","t_depth":85,"t_ref_count":62,"t_alt_count":22,"n_depth":77,"all_effects":"LY6K,missense_variant,p.G161S,ENST00000292430,NM_017527.4,c.481G>A,MODERATE,YES,tolerated(0.13),benign(0.053),1;LY6K,3_prime_UTR_variant,,ENST00000522591,NM_001160354.2,c.*1600G>A,MODIFIER,,,,1;LY6K,3_prime_UTR_variant,,ENST00000519387,NM_001160355.2,c.*131G>A,MODIFIER,,,,1;LY6K,downstream_gene_variant,,ENST00000518841,,,MODIFIER,,,,1;LY6K,non_coding_transcript_exon_variant,,ENST00000519390,,n.626G>A,MODIFIER,,,,1;LNCOC1,non_coding_transcript_exon_variant,,ENST00000520572,,n.4610C>T,MODIFIER,YES,,,-1;LNCOC1,non_coding_transcript_exon_variant,,ENST00000663158,,n.3489C>T,MODIFIER,,,,-1;LNCOC1,non_coding_transcript_exon_variant,,ENST00000669349,,n.2697C>T,MODIFIER,,,,-1;LNCOC1,non_coding_transcript_exon_variant,,ENST00000665898,,n.2686C>T,MODIFIER,,,,-1;LNCOC1,downstream_gene_variant,,ENST00000654797,,,MODIFIER,,,,-1;LNCOC1,downstream_gene_variant,,ENST00000662059,,,MODIFIER,,,,-1","Allele":"A","Gene":"ENSG00000160886","Feature":"ENST00000292430","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"898/2671","CDS_position":"481/498","Protein_position":"161/165","Amino_acids":"G/S","Codons":"Ggc/Agc","Existing_variation":"rs144411665","TRANSCRIPT_STRAND":1,"SYMBOL":"LY6K","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:24225","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS6385.2","ENSP":"ENSP00000292430","SWISSPROT":"Q17RY6.110","UNIPARC":"UPI0000071C96","UNIPROT_ISOFORM":"Q17RY6-1","RefSeq":"NM_017527.4","MANE":"NM_017527.4","APPRIS":"P4","SIFT":"tolerated(0.13)","PolyPhen":"benign(0.053)","EXON":"3/3","DOMAINS":"PANTHER:PTHR15049;PANTHER:PTHR15049:SF1;Transmembrane_helices:TMhelix;Low_complexity_(Seg):seg","ESP_AA_AF":"0.000227","ESP_EA_AF":"0","gnomAD_AF":"7.194e-05","gnomAD_AFR_AF":"0.0001848","gnomAD_AMR_AF":"2.895e-05","gnomAD_ASJ_AF":"0","gnomAD_EAS_AF":"0.0002719","gnomAD_FIN_AF":"0","gnomAD_NFE_AF":"2.646e-05","gnomAD_OTH_AF":"0","gnomAD_SAS_AF":"0.0001962","MAX_AF":"0.0002719","MAX_AF_POPS":"gnomAD_EAS","gnomAD_non_cancer_AF":"0.00010816499707289","gnomAD_non_cancer_AFR_AF":"0.00029184299637563","gnomAD_non_cancer_AMI_AF":"0","gnomAD_non_cancer_AMR_AF":"0","gnomAD_non_cancer_ASJ_AF":"0","gnomAD_non_cancer_EAS_AF":"0.00020177599799353","gnomAD_non_cancer_FIN_AF":"0","gnomAD_non_cancer_MID_AF":"0","gnomAD_non_cancer_NFE_AF":"3.08622984448448e-05","gnomAD_non_cancer_OTH_AF":"0","gnomAD_non_cancer_SAS_AF":"0.00020833300368394","gnomAD_non_cancer_MAX_AF_adj":"0.00029184299637563","gnomAD_non_cancer_MAX_AF_POPS_adj":"afr","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"CONTEXT":"CAGCCGGCCTC","tumor_bam_uuid":"65d5ece2-08bd-44e8-bf80-43bcc01d5f97","normal_bam_uuid":"f7c1f639-688f-4b3c-ac2d-2a887abb39ca","case_id":"472337c2-a2fc-403a-8c17-69511193128b","COSMIC":"COSM2867655","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"343","Hugo_Symbol":"SLITRK6","Entrez_Gene_Id":84189,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr13","Start_Position":85795154,"End_Position":85795154,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"T","Tumor_Sample_Barcode":"TCGA-44-2656-01A-02W-0928-08","Matched_Norm_Sample_Barcode":"TCGA-44-2656-10A-01D-0969-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"b2773f71-23ca-4f92-99cb-1452846a1b36","Matched_Norm_Sample_UUID":"03b8420d-480f-48e1-88a7-8ee9917049a6","HGVSc":"c.1355C>A","HGVSp":"p.Pro452Gln","HGVSp_Short":"p.P452Q","Transcript_ID":"ENST00000647374","Exon_Number":"2/2","t_depth":141,"t_ref_count":124,"t_alt_count":17,"n_depth":54,"all_effects":"SLITRK6,missense_variant,p.P452Q,ENST00000647374,NM_032229.3,c.1355C>A,MODERATE,YES,deleterious(0.01),possibly_damaging(0.678),-1;SLITRK6,missense_variant,p.P452Q,ENST00000643778,,c.1355C>A,MODERATE,,deleterious(0.01),possibly_damaging(0.678),-1;SLITRK6,downstream_gene_variant,,ENST00000645642,,,MODIFIER,,,,-1","Allele":"T","Gene":"ENSG00000184564","Feature":"ENST00000647374","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"1885/4249","CDS_position":"1355/2526","Protein_position":"452/841","Amino_acids":"P/Q","Codons":"cCa/cAa","Existing_variation":"COSV68389526","TRANSCRIPT_STRAND":-1,"SYMBOL":"SLITRK6","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:23503","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS41903.1","ENSP":"ENSP00000495507","SWISSPROT":"Q9H5Y7.154","UNIPARC":"UPI000004C9D6","RefSeq":"NM_032229.3","MANE":"NM_032229.3","APPRIS":"P1","SIFT":"deleterious(0.01)","PolyPhen":"possibly_damaging(0.678)","EXON":"2/2","DOMAINS":"Gene3D:3.80.10.10;Pfam:PF13855;PROSITE_profiles:PS51450;PANTHER:PTHR45773;PANTHER:PTHR45773:SF1;SMART:SM00365;SMART:SM00369;Superfamily:SSF52058","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","PHENO":"1","GENE_PHENO":"1","CONTEXT":"TTCCTGGCAGT","tumor_bam_uuid":"3543b887-5dbd-4038-b787-d7a6cb73842a","normal_bam_uuid":"ada4ffdf-3ba5-4ad0-8eb4-634d04b2b9b8","case_id":"42ca54fc-c1ae-41cd-bca1-7fe9810db460","COSMIC":"COSM6074960","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"445","Hugo_Symbol":"MTCL1","Entrez_Gene_Id":23255,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr18","Start_Position":8783549,"End_Position":8783549,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"T","Tumor_Sample_Barcode":"TCGA-49-6767-01A-11D-1855-08","Matched_Norm_Sample_Barcode":"TCGA-49-6767-11A-01D-1855-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"9f82f494-042a-4f00-954c-4761fa25b298","Matched_Norm_Sample_UUID":"25c0da49-0dd3-4eac-a262-756b8e3870dc","HGVSc":"c.1517G>T","HGVSp":"p.Arg506Met","HGVSp_Short":"p.R506M","Transcript_ID":"ENST00000306329","Exon_Number":"5/14","t_depth":16,"t_ref_count":8,"t_alt_count":7,"n_depth":34,"all_effects":"MTCL1,missense_variant,p.R146M,ENST00000359865,NM_015210.4,c.437G>T,MODERATE,,deleterious(0),possibly_damaging(0.603),1;MTCL1,missense_variant,p.R146M,ENST00000400050,,c.437G>T,MODERATE,,deleterious(0),possibly_damaging(0.603),1;MTCL1,missense_variant,p.R146M,ENST00000517570,,c.437G>T,MODERATE,,deleterious(0),possibly_damaging(0.575),1;MTCL1,missense_variant,p.R506M,ENST00000306329,NM_001378206.1&NM_001378205.1&NM_001378207.1,c.1517G>T,MODERATE,YES,deleterious(0),probably_damaging(0.914),1;MTCL1,upstream_gene_variant,,ENST00000521018,,,MODIFIER,,,,1;MTCL1,upstream_gene_variant,,ENST00000523811,,,MODIFIER,,,,1;MTCL1,5_prime_UTR_variant,,ENST00000520495,,c.-38G>T,MODIFIER,,,,1;MTCL1,upstream_gene_variant,,ENST00000517554,,,MODIFIER,,,,1","Allele":"T","Gene":"ENSG00000168502","Feature":"ENST00000306329","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"1517/5718","CDS_position":"1517/5718","Protein_position":"506/1905","Amino_acids":"R/M","Codons":"aGg/aTg","Existing_variation":"COSV60407214","TRANSCRIPT_STRAND":1,"SYMBOL":"MTCL1","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:29121","BIOTYPE":"protein_coding","CANONICAL":"YES","ENSP":"ENSP00000305027","SWISSPROT":"Q9Y4B5.139","UNIPARC":"UPI0001AE65C5","UNIPROT_ISOFORM":"Q9Y4B5-1","RefSeq":"NM_001378206.1;NM_001378205.1;NM_001378207.1","APPRIS":"P3","SIFT":"deleterious(0)","PolyPhen":"probably_damaging(0.914)","EXON":"5/14","DOMAINS":"Pfam:PF11365;PANTHER:PTHR15742;PANTHER:PTHR15742:SF3","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":5,"PHENO":"1","CONTEXT":"TTTGAGGTGCC","tumor_bam_uuid":"d0510269-2aa9-4da9-8dd6-c5f3f874e702","normal_bam_uuid":"68ffd2d1-57f8-4707-bf14-33e4358d686c","case_id":"6bffe800-ec2b-4638-9333-97fe85dcd91c","COSMIC":"COSM6083944","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"124","Hugo_Symbol":"CHM","Entrez_Gene_Id":1121,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chrX","Start_Position":85864675,"End_Position":85864675,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"T","Tumor_Sample_Barcode":"TCGA-55-7995-01A-11D-2184-08","Matched_Norm_Sample_Barcode":"TCGA-55-7995-10A-01D-2184-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"24a28614-2530-40a8-85b4-47349add8c3a","Matched_Norm_Sample_UUID":"10279839-3c4e-49bf-b987-438f105c83c3","HGVSc":"c.1917C>A","HGVSp":"p.Phe639Leu","HGVSp_Short":"p.F639L","Transcript_ID":"ENST00000357749","Exon_Number":"15/15","t_depth":36,"t_ref_count":23,"t_alt_count":12,"n_depth":37,"all_effects":"CHM,missense_variant,p.F639L,ENST00000357749,NM_000390.4&NM_001362519.1&NM_001362517.1&NM_001320959.1&NM_001362518.2,c.1917C>A,MODERATE,YES,tolerated(0.68),benign(0),-1;CHM,intron_variant,,ENST00000467744,,n.127-1581C>A,MODIFIER,,,,-1","Allele":"T","Gene":"ENSG00000188419","Feature":"ENST00000357749","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"1943/5438","CDS_position":"1917/1962","Protein_position":"639/653","Amino_acids":"F/L","Codons":"ttC/ttA","Existing_variation":"COSV100753556","TRANSCRIPT_STRAND":-1,"SYMBOL":"CHM","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:1940","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS14454.1","ENSP":"ENSP00000350386","SWISSPROT":"P24386.184","UNIPARC":"UPI0000049C8C","UNIPROT_ISOFORM":"P24386-1","RefSeq":"NM_000390.4;NM_001362519.1;NM_001362517.1;NM_001320959.1;NM_001362518.2","MANE":"NM_000390.4","APPRIS":"P1","SIFT":"tolerated(0.68)","PolyPhen":"benign(0)","EXON":"15/15","DOMAINS":"PIRSF:PIRSF016550;PANTHER:PTHR11787;PANTHER:PTHR11787:SF9;MobiDB_lite:mobidb-lite;MobiDB_lite:mobidb-lite","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","GENE_PHENO":"1","CONTEXT":"TCCTTGAAAGT","tumor_bam_uuid":"e1dd9417-9c9e-439c-b0b2-3db0aea8ba9b","normal_bam_uuid":"0ca7a072-cf1d-4b8b-939b-4d0a30993fe2","case_id":"abd6647b-d2eb-404d-8283-443e92addf55","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"248","Hugo_Symbol":"KIAA1614","Entrez_Gene_Id":57710,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr1","Start_Position":180941055,"End_Position":180941055,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"A","dbSNP_RS":"rs1263685754","Tumor_Sample_Barcode":"TCGA-73-4670-01A-01D-1265-08","Matched_Norm_Sample_Barcode":"TCGA-73-4670-11A-01D-1265-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"2aea0652-17ae-4dfa-9358-206d4f24f02f","Matched_Norm_Sample_UUID":"a5b33638-194b-4a5e-9eca-5c110202dc06","HGVSc":"c.2929G>A","HGVSp":"p.Gly977Arg","HGVSp_Short":"p.G977R","Transcript_ID":"ENST00000367588","Exon_Number":"7/9","t_depth":40,"t_ref_count":26,"t_alt_count":14,"n_depth":40,"all_effects":"KIAA1614,missense_variant,p.G977R,ENST00000367588,NM_020950.2,c.2929G>A,MODERATE,YES,tolerated(0.09),probably_damaging(0.979),1;KIAA1614,missense_variant,p.G598R,ENST00000367587,,c.1792G>A,MODERATE,,deleterious(0.04),probably_damaging(0.979),1;KIAA1614,missense_variant,p.R96K,ENST00000483705,,c.287G>A,MODERATE,,deleterious_low_confidence(0),benign(0.146),1;KIAA1614,upstream_gene_variant,,ENST00000461346,,,MODIFIER,,,,1;AL162431.1,downstream_gene_variant,,ENST00000358073,,,MODIFIER,YES,,,-1","Allele":"A","Gene":"ENSG00000135835","Feature":"ENST00000367588","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"3276/9946","CDS_position":"2929/3573","Protein_position":"977/1190","Amino_acids":"G/R","Codons":"Gga/Aga","Existing_variation":"rs1263685754;COSV62550715","TRANSCRIPT_STRAND":1,"SYMBOL":"KIAA1614","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:29327","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS41442.1","ENSP":"ENSP00000356560","SWISSPROT":"Q5VZ46.103","UNIPARC":"UPI00001C1D75","UNIPROT_ISOFORM":"Q5VZ46-1","RefSeq":"NM_020950.2","MANE":"NM_020950.2","APPRIS":"P1","SIFT":"tolerated(0.09)","PolyPhen":"probably_damaging(0.979)","EXON":"7/9","DOMAINS":"PANTHER:PTHR14102;PANTHER:PTHR14102:SF12;MobiDB_lite:mobidb-lite;Low_complexity_(Seg):seg","gnomAD_AF":"4.171e-06","gnomAD_AFR_AF":"0","gnomAD_AMR_AF":"2.971e-05","gnomAD_ASJ_AF":"0","gnomAD_EAS_AF":"0","gnomAD_FIN_AF":"0","gnomAD_NFE_AF":"0","gnomAD_OTH_AF":"0","gnomAD_SAS_AF":"0","MAX_AF":"2.971e-05","MAX_AF_POPS":"gnomAD_AMR","gnomAD_non_cancer_AF":"7.76506021793466e-06","gnomAD_non_cancer_AFR_AF":"0","gnomAD_non_cancer_AMI_AF":"0","gnomAD_non_cancer_AMR_AF":"9.11245006136596e-05","gnomAD_non_cancer_ASJ_AF":"0","gnomAD_non_cancer_EAS_AF":"0","gnomAD_non_cancer_FIN_AF":"0","gnomAD_non_cancer_MID_AF":"0","gnomAD_non_cancer_NFE_AF":"0","gnomAD_non_cancer_OTH_AF":"0","gnomAD_non_cancer_SAS_AF":"0","SOMATIC":"0;1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"0;1","CONTEXT":"CAGCAGGAGCT","tumor_bam_uuid":"edcaaa46-b084-409f-90e1-3c6789daa3be","normal_bam_uuid":"d1ba8579-6759-4bbd-a4c5-14bbeab80abc","case_id":"1b354837-4925-4480-ac32-6b44d0957314","COSMIC":"COSM6059841","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2"}
{"X1":"592","Hugo_Symbol":"MYH8","Entrez_Gene_Id":4626,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr17","Start_Position":10420123,"End_Position":10420123,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"A","Tumor_Seq_Allele1":"A","Tumor_Seq_Allele2":"C","dbSNP_RS":"rs1449149762","Tumor_Sample_Barcode":"TCGA-50-5941-01A-11D-1753-08","Matched_Norm_Sample_Barcode":"TCGA-50-5941-10A-01D-1753-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"86ef12c0-d5fc-4852-9960-593366e717b4","Matched_Norm_Sample_UUID":"9054c3ce-7029-46bc-933e-18046c1bba73","HGVSc":"c.105T>G","HGVSp":"p.Asp35Glu","HGVSp_Short":"p.D35E","Transcript_ID":"ENST00000403437","Exon_Number":"3/40","t_depth":285,"t_ref_count":218,"t_alt_count":66,"n_depth":253,"all_effects":"MYH8,missense_variant,p.D35E,ENST00000403437,NM_002472.3,c.105T>G,MODERATE,YES,tolerated(0.05),benign(0.151),-1;AC005323.2,intron_variant,,ENST00000399342,,n.206+13846A>C,MODIFIER,YES,,,1;AC005323.2,intron_variant,,ENST00000581304,,n.143+13885A>C,MODIFIER,,,,1;MYHAS,intron_variant,,ENST00000587182,,n.155+13885A>C,MODIFIER,YES,,,1","Allele":"C","Gene":"ENSG00000133020","Feature":"ENST00000403437","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"200/6041","CDS_position":"105/5814","Protein_position":"35/1937","Amino_acids":"D/E","Codons":"gaT/gaG","Existing_variation":"rs1449149762;COSV67973748","TRANSCRIPT_STRAND":-1,"SYMBOL":"MYH8","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:7578","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS11153.1","ENSP":"ENSP00000384330","SWISSPROT":"P13535.196","UNIPARC":"UPI000012FB7D","RefSeq":"NM_002472.3","MANE":"NM_002472.3","APPRIS":"P1","SIFT":"tolerated(0.05)","PolyPhen":"benign(0.151)","EXON":"3/40","DOMAINS":"PROSITE_profiles:PS51844;PANTHER:PTHR45615;PANTHER:PTHR45615:SF35","SOMATIC":"0;1","IMPACT":"MODERATE","VARIANT_CLASS":"SNV","TSL":5,"PHENO":"0;1","GENE_PHENO":"1","CONTEXT":"TTAGCATCAAA","tumor_bam_uuid":"984d05a5-42dc-4fcb-8296-d7bd35a62152","normal_bam_uuid":"bc61d4f9-d854-4e7e-972c-1042b5e6e831","case_id":"f3f024c2-52f1-400e-946c-398f5b72e6dc","COSMIC":"COSM6080165","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"346","Hugo_Symbol":"BUB1B","Entrez_Gene_Id":701,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr15","Start_Position":40176480,"End_Position":40176480,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"T","dbSNP_RS":"rs587778144","Tumor_Sample_Barcode":"TCGA-44-2656-01B-06D-A271-08","Matched_Norm_Sample_Barcode":"TCGA-44-2656-10A-01D-0969-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"4af6cb5c-4ca2-49c7-b0c5-9f777e172bde","Matched_Norm_Sample_UUID":"03b8420d-480f-48e1-88a7-8ee9917049a6","HGVSc":"c.388C>T","HGVSp":"p.Arg130Cys","HGVSp_Short":"p.R130C","Transcript_ID":"ENST00000287598","Exon_Number":"5/23","t_depth":63,"t_ref_count":51,"t_alt_count":12,"n_depth":115,"all_effects":"BUB1B,missense_variant,p.R130C,ENST00000287598,NM_001211.6,c.388C>T,MODERATE,,deleterious(0.03),benign(0.007),1;BUB1B,missense_variant,p.R144C,ENST00000412359,,c.430C>T,MODERATE,YES,deleterious(0.03),benign(0.005),1;BUB1B,non_coding_transcript_exon_variant,,ENST00000560120,,n.442C>T,MODIFIER,,,,1;BUB1B,non_coding_transcript_exon_variant,,ENST00000559414,,n.456C>T,MODIFIER,,,,1","Allele":"T","Gene":"ENSG00000156970","Feature":"ENST00000287598","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"540/3669","CDS_position":"388/3153","Protein_position":"130/1050","Amino_acids":"R/C","Codons":"Cgt/Tgt","Existing_variation":"rs587778144;COSV55010377","TRANSCRIPT_STRAND":1,"SYMBOL":"BUB1B","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:1149","BIOTYPE":"protein_coding","CCDS":"CCDS10053.1","ENSP":"ENSP00000287598","SWISSPROT":"O60566.204","UNIPARC":"UPI000006E699","UNIPROT_ISOFORM":"O60566-1","RefSeq":"NM_001211.6","MANE":"NM_001211.6","APPRIS":"P1","SIFT":"deleterious(0.03)","PolyPhen":"benign(0.007)","EXON":"5/23","DOMAINS":"PDB-ENSP_mappings:2wvi.A;PDB-ENSP_mappings:3si5.A;PDB-ENSP_mappings:3si5.B;PDB-ENSP_mappings:5khu.Q;PDB-ENSP_mappings:5lcw.S;PDB-ENSP_mappings:6tlj.S;PROSITE_profiles:PS51489;PANTHER:PTHR14030:SF15;PANTHER:PTHR14030;Pfam:PF08311;Gene3D:1.25.40.430;SMART:SM00777","gnomAD_AF":"2.784e-05","gnomAD_AFR_AF":"0","gnomAD_AMR_AF":"8.673e-05","gnomAD_ASJ_AF":"0","gnomAD_EAS_AF":"5.438e-05","gnomAD_FIN_AF":"0","gnomAD_NFE_AF":"0","gnomAD_OTH_AF":"0.000163","gnomAD_SAS_AF":"6.533e-05","MAX_AF":"0.000163","MAX_AF_POPS":"gnomAD_OTH","gnomAD_non_cancer_AF":"2.70565997197991e-05","gnomAD_non_cancer_AFR_AF":"4.86926001030952e-05","gnomAD_non_cancer_AMI_AF":"0","gnomAD_non_cancer_AMR_AF":"0","gnomAD_non_cancer_ASJ_AF":"0","gnomAD_non_cancer_EAS_AF":"0","gnomAD_non_cancer_FIN_AF":"0","gnomAD_non_cancer_MID_AF":"0","gnomAD_non_cancer_NFE_AF":"1.54321005538804e-05","gnomAD_non_cancer_OTH_AF":"0","gnomAD_non_cancer_SAS_AF":"0.00020815999596379","gnomAD_non_cancer_MAX_AF_adj":"4.86926001030952e-05","gnomAD_non_cancer_MAX_AF_POPS_adj":"afr","CLIN_SIG":"not_provided","SOMATIC":"0;1","PUBMED":"24728327","IMPACT":"MODERATE","VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1;1","GENE_PHENO":"1","CONTEXT":"AGGGGCGTTTA","tumor_bam_uuid":"b91f5c4e-690a-4fe7-b0d0-e4b33c4ef398","normal_bam_uuid":"ada4ffdf-3ba5-4ad0-8eb4-634d04b2b9b8","case_id":"42ca54fc-c1ae-41cd-bca1-7fe9810db460","COSMIC":"COSM4054285;COSM554926","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"525","Hugo_Symbol":"PTGER4","Entrez_Gene_Id":5734,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr5","Start_Position":40681104,"End_Position":40681104,"Strand":"+","Variant_Classification":"Silent","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"T","Tumor_Sample_Barcode":"TCGA-49-4488-01A-01D-1753-08","Matched_Norm_Sample_Barcode":"TCGA-49-4488-11A-01D-1753-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"3635bb9c-a332-4445-ad81-83cec426dd02","Matched_Norm_Sample_UUID":"232307bb-5ab4-48c2-a008-8684ce7e1056","HGVSc":"c.111G>T","HGVSp":"p.Val37=","HGVSp_Short":"p.V37=","Transcript_ID":"ENST00000302472","Exon_Number":"2/3","t_depth":145,"t_ref_count":128,"t_alt_count":17,"n_depth":93,"all_effects":"PTGER4,synonymous_variant,p.V37=,ENST00000302472,NM_000958.3,c.111G>T,LOW,YES,,,1;TTC33,intron_variant,,ENST00000636106,,c.221+65694C>A,MODIFIER,,,,-1;TTC33,intron_variant,,ENST00000636863,,c.221+65694C>A,MODIFIER,,,,-1;TTC33,intron_variant,,ENST00000637375,,c.221+65694C>A,MODIFIER,,,,-1;PTGER4,non_coding_transcript_exon_variant,,ENST00000514343,,n.703G>T,MODIFIER,,,,1;PTGER4,upstream_gene_variant,,ENST00000509543,,,MODIFIER,,,,1;PTGER4,upstream_gene_variant,,ENST00000512578,,,MODIFIER,,,,1;PTGER4,upstream_gene_variant,,ENST00000513635,,,MODIFIER,,,,1","Allele":"T","Gene":"ENSG00000171522","Feature":"ENST00000302472","Feature_type":"Transcript","One_Consequence":"synonymous_variant","Consequence":"synonymous_variant","cDNA_position":"718/3431","CDS_position":"111/1467","Protein_position":"37/488","Amino_acids":"V","Codons":"gtG/gtT","Existing_variation":"COSV56720450","TRANSCRIPT_STRAND":1,"SYMBOL":"PTGER4","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:9596","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS3930.1","ENSP":"ENSP00000302846","SWISSPROT":"P35408.184","UNIPARC":"UPI000005042F","RefSeq":"NM_000958.3","MANE":"NM_000958.3","APPRIS":"P1","EXON":"2/3","DOMAINS":"Gene3D:1.20.1070.10;PDB-ENSP_mappings:5yhl.A;PDB-ENSP_mappings:5ywy.A;Pfam:PF00001;Prints:PR00237;Prints:PR01788;PROSITE_profiles:PS50262;PANTHER:PTHR11866;PANTHER:PTHR11866:SF6;Superfamily:SSF81321;Transmembrane_helices:TMhelix;CDD:cd15142","SOMATIC":"1","IMPACT":"LOW","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","CONTEXT":"CTGGTGGCCAT","tumor_bam_uuid":"a1f1de6f-364f-4dd8-b81e-abf63ada0d7a","normal_bam_uuid":"03552d74-cd82-4a0b-8cd3-e4f5d7f81e3e","case_id":"d721bfe0-90e3-415e-b9f3-1a270efa5fbb","COSMIC":"COSM6104170","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"15","Hugo_Symbol":"MYO5B","Entrez_Gene_Id":4645,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr18","Start_Position":49984792,"End_Position":49984792,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"G","Tumor_Sample_Barcode":"TCGA-86-6851-01A-11D-1945-08","Matched_Norm_Sample_Barcode":"TCGA-86-6851-10A-01D-1946-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"f5a79ea9-4b65-4e69-bed1-79919e2639d7","Matched_Norm_Sample_UUID":"4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc","HGVSc":"c.872G>C","HGVSp":"p.Gly291Ala","HGVSp_Short":"p.G291A","Transcript_ID":"ENST00000285039","Exon_Number":"8/40","t_depth":43,"t_ref_count":34,"t_alt_count":9,"n_depth":81,"all_effects":"MYO5B,missense_variant,p.G291A,ENST00000285039,NM_001080467.3,c.872G>C,MODERATE,YES,deleterious(0),probably_damaging(0.994),-1","Allele":"G","Gene":"ENSG00000167306","Feature":"ENST00000285039","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"1226/9583","CDS_position":"872/5547","Protein_position":"291/1848","Amino_acids":"G/A","Codons":"gGa/gCa","Existing_variation":"COSV53219220","TRANSCRIPT_STRAND":-1,"SYMBOL":"MYO5B","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:7603","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS42436.1","ENSP":"ENSP00000285039","SWISSPROT":"Q9ULV0.187","UNIPARC":"UPI00001D7B21","UNIPROT_ISOFORM":"Q9ULV0-1","RefSeq":"NM_001080467.3","MANE":"NM_001080467.3","APPRIS":"P1","SIFT":"deleterious(0)","PolyPhen":"probably_damaging(0.994)","EXON":"8/40","DOMAINS":"Gene3D:3.40.850.10;Pfam:PF00063;PROSITE_profiles:PS51456;PANTHER:PTHR13140;PANTHER:PTHR13140:SF356;SMART:SM00242;Superfamily:SSF52540;CDD:cd01380","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","GENE_PHENO":"1","CONTEXT":"CTCCTCCCTGT","tumor_bam_uuid":"233b7002-59ea-46a1-96d9-789fed70061f","normal_bam_uuid":"59fecb9a-c420-4e98-807a-27c5703246f8","case_id":"035c0b2b-c722-443b-8962-db4ee92c7532","COSMIC":"COSM6148532","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"408","Hugo_Symbol":"GPATCH1","Entrez_Gene_Id":55094,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr19","Start_Position":33111741,"End_Position":33111741,"Strand":"+","Variant_Classification":"Silent","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"T","Tumor_Sample_Barcode":"TCGA-44-6778-01A-11D-1855-08","Matched_Norm_Sample_Barcode":"TCGA-44-6778-10A-01D-1855-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"903182ad-3145-4fa3-869e-62774aedf86c","Matched_Norm_Sample_UUID":"6a20de47-dc03-414c-a3d3-2a48b156da06","HGVSc":"c.1603C>T","HGVSp":"p.Leu535=","HGVSp_Short":"p.L535=","Transcript_ID":"ENST00000170564","Exon_Number":"12/20","t_depth":130,"t_ref_count":111,"t_alt_count":19,"n_depth":129,"all_effects":"GPATCH1,synonymous_variant,p.L535=,ENST00000170564,NM_018025.3,c.1603C>T,LOW,YES,,,1;GPATCH1,non_coding_transcript_exon_variant,,ENST00000590062,,n.158C>T,MODIFIER,,,,1;GPATCH1,downstream_gene_variant,,ENST00000592165,,,MODIFIER,,,,1;GPATCH1,upstream_gene_variant,,ENST00000592262,,,MODIFIER,,,,1","Allele":"T","Gene":"ENSG00000076650","Feature":"ENST00000170564","Feature_type":"Transcript","One_Consequence":"synonymous_variant","Consequence":"synonymous_variant","cDNA_position":"1616/3191","CDS_position":"1603/2796","Protein_position":"535/931","Amino_acids":"L","Codons":"Ctg/Ttg","Existing_variation":"COSV50124214","TRANSCRIPT_STRAND":1,"SYMBOL":"GPATCH1","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:24658","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS12428.1","ENSP":"ENSP00000170564","SWISSPROT":"Q9BRR8.123","UNIPARC":"UPI000004EC71","RefSeq":"NM_018025.3","MANE":"NM_018025.3","APPRIS":"P1","EXON":"12/20","DOMAINS":"PANTHER:PTHR13384;PANTHER:PTHR13384:SF19","SOMATIC":"1","IMPACT":"LOW","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","CONTEXT":"GCTGTCTGGAC","tumor_bam_uuid":"46b324a6-eed6-47d9-8384-3ccf27e8edd7","normal_bam_uuid":"eef87798-bbc8-4e8f-a0ef-554dd37150fc","case_id":"5d5cc436-6e57-4d23-a164-7f5153c2e666","COSMIC":"COSM6084606","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"63","Hugo_Symbol":"HCRTR1","Entrez_Gene_Id":3061,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr1","Start_Position":31620946,"End_Position":31620946,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"T","Tumor_Sample_Barcode":"TCGA-MP-A4TJ-01A-51D-A25L-08","Matched_Norm_Sample_Barcode":"TCGA-MP-A4TJ-10A-01D-A25L-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"e06e412b-bde7-4e54-aa0f-9360bcb3262e","Matched_Norm_Sample_UUID":"00bad90f-0726-4560-b87a-0c9fb31283ed","HGVSc":"c.482C>T","HGVSp":"p.Ala161Val","HGVSp_Short":"p.A161V","Transcript_ID":"ENST00000373706","Exon_Number":"3/7","t_depth":80,"t_ref_count":70,"t_alt_count":10,"n_depth":104,"all_effects":"HCRTR1,missense_variant,p.A161V,ENST00000403528,NM_001525.3,c.482C>T,MODERATE,YES,deleterious(0),probably_damaging(0.994),1;HCRTR1,missense_variant,p.A161V,ENST00000373706,,c.482C>T,MODERATE,,deleterious(0),probably_damaging(0.994),1;HCRTR1,missense_variant,p.A161V,ENST00000373705,,c.482C>T,MODERATE,,deleterious(0),possibly_damaging(0.531),1;HCRTR1,non_coding_transcript_exon_variant,,ENST00000468521,,n.808C>T,MODIFIER,,,,1;HCRTR1,non_coding_transcript_exon_variant,,ENST00000485464,,n.463C>T,MODIFIER,,,,1","Allele":"T","Gene":"ENSG00000121764","Feature":"ENST00000373706","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"635/1642","CDS_position":"482/1278","Protein_position":"161/425","Amino_acids":"A/V","Codons":"gCc/gTc","Existing_variation":"COSV65484733","TRANSCRIPT_STRAND":1,"SYMBOL":"HCRTR1","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:4848","BIOTYPE":"protein_coding","CCDS":"CCDS344.1","ENSP":"ENSP00000362810","SWISSPROT":"O43613.166","UNIPARC":"UPI0000038135","APPRIS":"P1","SIFT":"deleterious(0)","PolyPhen":"probably_damaging(0.994)","EXON":"3/7","DOMAINS":"PDB-ENSP_mappings:4zj8.A;PDB-ENSP_mappings:4zjc.A;PDB-ENSP_mappings:6to7.A;PDB-ENSP_mappings:6to7.B;PDB-ENSP_mappings:6tod.A;PDB-ENSP_mappings:6tod.B;PDB-ENSP_mappings:6tos.A;PDB-ENSP_mappings:6tos.B;PDB-ENSP_mappings:6tot.A;PDB-ENSP_mappings:6tot.B;PDB-ENSP_mappings:6tp3.A;PDB-ENSP_mappings:6tp3.B;PDB-ENSP_mappings:6tp4.A;PDB-ENSP_mappings:6tp4.B;PDB-ENSP_mappings:6tp6.A;PDB-ENSP_mappings:6tp6.B;PDB-ENSP_mappings:6tq4.A;PDB-ENSP_mappings:6tq4.B;PDB-ENSP_mappings:6tq6.A;PDB-ENSP_mappings:6tq6.B;PDB-ENSP_mappings:6tq7.A;PDB-ENSP_mappings:6tq7.B;PDB-ENSP_mappings:6tq9.A;PDB-ENSP_mappings:6tq9.B;Pfam:PF00001;Prints:PR00237;Prints:PR01064;PROSITE_profiles:PS50262;PANTHER:PTHR24241;PANTHER:PTHR24241:SF30;SMART:SM01381;Superfamily:SSF81321;CDD:cd15208","SOMATIC":"1","IMPACT":"MODERATE","VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","CONTEXT":"GCGGGCCCGTG","tumor_bam_uuid":"8ede84a8-b32c-4e62-bea2-f58ed8bc56d8","normal_bam_uuid":"b93674ab-a5c6-4226-9701-8d8ad0e178ad","case_id":"8f52cccd-5709-4753-9670-31a573ee27ab","COSMIC":"COSM4496771;COSM4496772","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"546","Hugo_Symbol":"WNK2","Entrez_Gene_Id":65268,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr9","Start_Position":93289369,"End_Position":93289369,"Strand":"+","Variant_Classification":"Frame_Shift_Del","Variant_Type":"DEL","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"-","Tumor_Sample_Barcode":"TCGA-86-A4JF-01A-11D-A24P-08","Matched_Norm_Sample_Barcode":"TCGA-86-A4JF-10A-01D-A24P-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"4b2dfe24-4585-47f8-8f97-04f734e3e38b","Matched_Norm_Sample_UUID":"637afdad-87c7-4832-9235-506369a19d1b","HGVSc":"c.4731del","HGVSp":"p.Arg1578GlyfsTer48","HGVSp_Short":"p.R1578Gfs*48","Transcript_ID":"ENST00000297954","Exon_Number":"20/30","t_depth":24,"t_ref_count":20,"t_alt_count":4,"n_depth":27,"all_effects":"WNK2,frameshift_variant,p.R1537Gfs*48,ENST00000432730,,c.4607del,HIGH,,,,1;WNK2,frameshift_variant,p.R1578Gfs*48,ENST00000297954,NM_001282394.1,c.4731del,HIGH,YES,,,1;WNK2,frameshift_variant,p.R1541Gfs*48,ENST00000395477,NM_006648.3,c.4620del,HIGH,,,,1;WNK2,frameshift_variant,p.R1145Gfs*48,ENST00000411624,,c.3430del,HIGH,,,,1;WNK2,frameshift_variant,p.R338Gfs*48,ENST00000448251,,c.1010del,HIGH,,,,1;WNK2,frameshift_variant,p.R64Gfs*48,ENST00000453718,,c.188del,HIGH,,,,1;WNK2,5_prime_UTR_variant,,ENST00000427277,,c.-286del,MODIFIER,,,,1;WNK2,upstream_gene_variant,,ENST00000474009,,,MODIFIER,,,,1;WNK2,upstream_gene_variant,,ENST00000479696,,,MODIFIER,,,,1","Allele":"-","Gene":"ENSG00000165238","Feature":"ENST00000297954","Feature_type":"Transcript","One_Consequence":"frameshift_variant","Consequence":"frameshift_variant","cDNA_position":"4726/7138","CDS_position":"4726/6894","Protein_position":"1576/2297","Amino_acids":"P/X","Codons":"Ccc/cc","TRANSCRIPT_STRAND":1,"SYMBOL":"WNK2","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:14542","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS75858.1","ENSP":"ENSP00000297954","SWISSPROT":"Q9Y3S1.176","UNIPARC":"UPI0000236D76","UNIPROT_ISOFORM":"Q9Y3S1-1","RefSeq":"NM_001282394.1","APPRIS":"P4","EXON":"20/30","DOMAINS":"PANTHER:PTHR13902;PANTHER:PTHR13902:SF10;MobiDB_lite:mobidb-lite","IMPACT":"HIGH","PICK":1,"VARIANT_CLASS":"deletion","TSL":1,"HGVS_OFFSET":5,"GENE_PHENO":"1","CONTEXT":"GGGCCGCCCCCC","tumor_bam_uuid":"e988c1dd-0c18-4eaa-a9f2-01e66a8a8f02","normal_bam_uuid":"b556a555-a6a3-497e-8732-01eaf8f20c08","case_id":"e01e4fb3-236a-4d16-9073-555876b688e9","COSMIC":"COSM2732329;COSM2732330;COSM4339085;COSM4339086","hotspot":"N","RNA_Support":"Unknown","callers":"mutect2;pindel;varscan2"}
{"X1":"575","Hugo_Symbol":"BMPR1B","Entrez_Gene_Id":658,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr4","Start_Position":95114761,"End_Position":95114761,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"G","Tumor_Sample_Barcode":"TCGA-91-A4BC-01A-11D-A24D-08","Matched_Norm_Sample_Barcode":"TCGA-91-A4BC-10A-01D-A24F-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"21f97016-82c3-4e24-9c05-c33b50a635a3","Matched_Norm_Sample_UUID":"7de22c99-d003-4604-b66f-5b9f8b406d77","HGVSc":"c.185C>G","HGVSp":"p.Ser62Cys","HGVSp_Short":"p.S62C","Transcript_ID":"ENST00000264568","Exon_Number":"3/11","t_depth":234,"t_ref_count":224,"t_alt_count":10,"n_depth":176,"all_effects":"BMPR1B,missense_variant,p.S62C,ENST00000515059,NM_001203.3,c.185C>G,MODERATE,,tolerated(0.07),possibly_damaging(0.617),1;BMPR1B,missense_variant,p.S92C,ENST00000440890,NM_001256793.2,c.275C>G,MODERATE,YES,tolerated(0.05),possibly_damaging(0.726),1;BMPR1B,missense_variant,p.S62C,ENST00000672698,,c.185C>G,MODERATE,,tolerated(0.07),possibly_damaging(0.617),1;BMPR1B,missense_variant,p.S62C,ENST00000394931,,c.185C>G,MODERATE,,tolerated(0.07),possibly_damaging(0.617),1;BMPR1B,missense_variant,p.S62C,ENST00000509540,,c.185C>G,MODERATE,,tolerated(0.07),possibly_damaging(0.617),1;BMPR1B,missense_variant,p.S62C,ENST00000264568,NM_001256794.1,c.185C>G,MODERATE,,tolerated(0.07),possibly_damaging(0.617),1;BMPR1B,missense_variant,p.S62C,ENST00000512312,NM_001256792.1,c.185C>G,MODERATE,,tolerated(0.07),possibly_damaging(0.617),1;BMPR1B,missense_variant,p.S62C,ENST00000506363,,c.185C>G,MODERATE,,tolerated(0.07),possibly_damaging(0.617),1;BMPR1B,non_coding_transcript_exon_variant,,ENST00000502683,,n.396C>G,MODIFIER,,,,1","Allele":"G","Gene":"ENSG00000138696","Feature":"ENST00000264568","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"339/1807","CDS_position":"185/1509","Protein_position":"62/502","Amino_acids":"S/C","Codons":"tCt/tGt","Existing_variation":"COSV99215278","TRANSCRIPT_STRAND":1,"SYMBOL":"BMPR1B","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:1077","BIOTYPE":"protein_coding","CCDS":"CCDS3642.1","ENSP":"ENSP00000264568","SWISSPROT":"O00238.208","UNIPARC":"UPI000000DC59","UNIPROT_ISOFORM":"O00238-1","RefSeq":"NM_001256794.1","SIFT":"tolerated(0.07)","PolyPhen":"possibly_damaging(0.617)","EXON":"3/11","DOMAINS":"PANTHER:PTHR23255;PANTHER:PTHR23255:SF62;Superfamily:SSF57302;Pfam:PF01064;Gene3D:2.10.60.10","SOMATIC":"1","IMPACT":"MODERATE","VARIANT_CLASS":"SNV","TSL":2,"PHENO":"1","GENE_PHENO":"1","CONTEXT":"TGACTCTGGGT","tumor_bam_uuid":"7ef30a57-b939-4e46-8d6f-fe02a47c040c","normal_bam_uuid":"2daa2de8-ba66-45c4-8673-332f7db0fb0c","case_id":"ea0b9461-0d4d-4ade-a255-1b03dd85e30e","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2"}
{"X1":"56","Hugo_Symbol":"SLC26A4","Entrez_Gene_Id":5172,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr7","Start_Position":107712547,"End_Position":107712547,"Strand":"+","Variant_Classification":"Silent","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"T","dbSNP_RS":"novel","Tumor_Sample_Barcode":"TCGA-17-Z026-01A-01W-0746-08","Matched_Norm_Sample_Barcode":"TCGA-17-Z026-11A-01W-0746-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"bb048ffc-de00-4706-85bb-d052c0fb6496","Matched_Norm_Sample_UUID":"f1c94247-89eb-4b5a-abc6-8c01571695bc","HGVSc":"c.2244C>T","HGVSp":"p.Leu748=","HGVSp_Short":"p.L748=","Transcript_ID":"ENST00000644269","Exon_Number":"20/21","t_depth":38,"t_ref_count":33,"t_alt_count":5,"n_depth":67,"all_effects":"SLC26A4,synonymous_variant,p.L748=,ENST00000644269,NM_000441.2,c.2244C>T,LOW,YES,,,1;SLC26A4,non_coding_transcript_exon_variant,,ENST00000492030,,n.430C>T,MODIFIER,,,,1;SLC26A4,3_prime_UTR_variant,,ENST00000644846,,c.*146C>T,MODIFIER,,,,1","Allele":"T","Gene":"ENSG00000091137","Feature":"ENST00000644269","Feature_type":"Transcript","One_Consequence":"synonymous_variant","Consequence":"synonymous_variant","cDNA_position":"2275/4737","CDS_position":"2244/2343","Protein_position":"748/780","Amino_acids":"L","Codons":"ctC/ctT","TRANSCRIPT_STRAND":1,"SYMBOL":"SLC26A4","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:8818","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS5746.1","ENSP":"ENSP00000494017","SWISSPROT":"O43511.194","UNIPARC":"UPI00001315A4","UNIPROT_ISOFORM":"O43511-1","RefSeq":"NM_000441.2","MANE":"NM_000441.2","APPRIS":"P1","EXON":"20/21","DOMAINS":"PANTHER:PTHR11814:SF33;PANTHER:PTHR11814","IMPACT":"LOW","PICK":1,"VARIANT_CLASS":"SNV","GENE_PHENO":"1","CONTEXT":"ACTCTCATTCA","tumor_bam_uuid":"36a7238c-d3bc-4d4e-ae55-a1fa73376e43","normal_bam_uuid":"bbe2d6bf-43ac-4c73-9bb1-9f0e862a84a1","case_id":"8b3a111a-aa46-41b9-bbec-28f4290da939","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"237","Hugo_Symbol":"DAOA","Entrez_Gene_Id":267012,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr13","Start_Position":105466303,"End_Position":105466303,"Strand":"+","Variant_Classification":"Silent","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"T","Tumor_Sample_Barcode":"TCGA-MN-A4N5-01A-11D-A24P-08","Matched_Norm_Sample_Barcode":"TCGA-MN-A4N5-10A-01D-A24P-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"2c5cba51-3286-4018-9609-36f4f5c4e078","Matched_Norm_Sample_UUID":"70ab4388-7a72-4bcf-aafa-6ba9b3d42610","HGVSc":"c.15G>T","HGVSp":"p.Leu5=","HGVSp_Short":"p.L5=","Transcript_ID":"ENST00000375936","Exon_Number":"1/5","t_depth":80,"t_ref_count":66,"t_alt_count":14,"n_depth":56,"all_effects":"DAOA,synonymous_variant,p.L5=,ENST00000618629,,c.15G>T,LOW,YES,,,1;DAOA,synonymous_variant,p.L5=,ENST00000375936,NM_172370.4,c.15G>T,LOW,,,,1;DAOA,5_prime_UTR_variant,,ENST00000329625,NM_001161814.1,c.-245G>T,MODIFIER,,,,1;DAOA,5_prime_UTR_variant,,ENST00000595812,NM_001161812.1,c.-225G>T,MODIFIER,,,,1;AL359751.1,downstream_gene_variant,,ENST00000610818,,,MODIFIER,YES,,,1;DAOA,synonymous_variant,p.L5=,ENST00000473269,,c.15G>T,LOW,,,,1;DAOA,synonymous_variant,p.L5=,ENST00000601240,,c.15G>T,LOW,,,,1;DAOA,synonymous_variant,p.L5=,ENST00000489237,,c.15G>T,LOW,,,,1;DAOA,5_prime_UTR_variant,,ENST00000559369,,c.-245G>T,MODIFIER,,,,1;DAOA,5_prime_UTR_variant,,ENST00000600388,,c.-245G>T,MODIFIER,,,,1;DAOA,5_prime_UTR_variant,,ENST00000488534,,c.-245G>T,MODIFIER,,,,1;DAOA,upstream_gene_variant,,ENST00000471432,,,MODIFIER,,,,1;DAOA-AS1,non_coding_transcript_exon_variant,,ENST00000448407,,n.623C>A,MODIFIER,YES,,,-1","Allele":"T","Gene":"ENSG00000182346","Feature":"ENST00000375936","Feature_type":"Transcript","One_Consequence":"synonymous_variant","Consequence":"synonymous_variant","cDNA_position":"61/742","CDS_position":"15/462","Protein_position":"5/153","Amino_acids":"L","Codons":"ctG/ctT","Existing_variation":"COSV100298935","TRANSCRIPT_STRAND":1,"SYMBOL":"DAOA","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:21191","BIOTYPE":"protein_coding","CCDS":"CCDS41905.1","ENSP":"ENSP00000365103","SWISSPROT":"P59103.128","UNIPARC":"UPI00001B01AA","UNIPROT_ISOFORM":"P59103-1","RefSeq":"NM_172370.4","APPRIS":"P4","EXON":"1/5","SOMATIC":"1","IMPACT":"LOW","VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","GENE_PHENO":"1","CONTEXT":"AAGCTGATGGG","tumor_bam_uuid":"45ae1459-4a3f-4b0d-845a-bd724acae71b","normal_bam_uuid":"d94ad7fd-a25a-4934-8625-0a6fffd2673b","case_id":"17e09b0d-eab2-40ec-ae3c-be9ab63fcef0","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"297","Hugo_Symbol":"SLC22A6","Entrez_Gene_Id":9356,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr11","Start_Position":62984661,"End_Position":62984661,"Strand":"+","Variant_Classification":"Silent","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"T","dbSNP_RS":"rs148086982","Tumor_Sample_Barcode":"TCGA-L4-A4E5-01A-11D-A24P-08","Matched_Norm_Sample_Barcode":"TCGA-L4-A4E5-10A-01D-A24P-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"16d0447f-5ca5-4218-b1c7-b833018d1e71","Matched_Norm_Sample_UUID":"f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8","HGVSc":"c.30G>A","HGVSp":"p.Val10=","HGVSp_Short":"p.V10=","Transcript_ID":"ENST00000377871","Exon_Number":"1/10","t_depth":20,"t_ref_count":16,"t_alt_count":4,"n_depth":19,"all_effects":"SLC22A6,synonymous_variant,p.V10=,ENST00000377871,NM_004790.5,c.30G>A,LOW,YES,,,-1;SLC22A6,synonymous_variant,p.V10=,ENST00000360421,NM_153276.3,c.30G>A,LOW,,,,-1;SLC22A6,synonymous_variant,p.V10=,ENST00000421062,NM_153278.3,c.30G>A,LOW,,,,-1;SLC22A6,synonymous_variant,p.V10=,ENST00000458333,NM_153277.3,c.30G>A,LOW,,,,-1;SLC22A6,upstream_gene_variant,,ENST00000537349,,,MODIFIER,,,,-1;SLC22A6,synonymous_variant,p.V10=,ENST00000540654,,c.30G>A,LOW,,,,-1;SLC22A8,downstream_gene_variant,,ENST00000539841,,,MODIFIER,,,,-1","Allele":"T","Gene":"ENSG00000197901","Feature":"ENST00000377871","Feature_type":"Transcript","One_Consequence":"synonymous_variant","Consequence":"synonymous_variant","cDNA_position":"297/2151","CDS_position":"30/1692","Protein_position":"10/563","Amino_acids":"V","Codons":"gtG/gtA","Existing_variation":"rs148086982","TRANSCRIPT_STRAND":-1,"SYMBOL":"SLC22A6","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:10970","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS31591.1","ENSP":"ENSP00000367102","SWISSPROT":"Q4U2R8.147","UNIPARC":"UPI00000747EC","UNIPROT_ISOFORM":"Q4U2R8-1","RefSeq":"NM_004790.5","EXON":"1/10","DOMAINS":"PANTHER:PTHR24064;PANTHER:PTHR24064:SF294","1000G_AF":"6e-04","1000G_AFR_AF":"0.0023","1000G_AMR_AF":"0","1000G_EAS_AF":"0","1000G_EUR_AF":"0","1000G_SAS_AF":"0","ESP_AA_AF":"0.0004543","ESP_EA_AF":"0.0001164","gnomAD_AF":"0.0001007","gnomAD_AFR_AF":"0.0005045","gnomAD_AMR_AF":"0.0004928","gnomAD_ASJ_AF":"0","gnomAD_EAS_AF":"0","gnomAD_FIN_AF":"0","gnomAD_NFE_AF":"0","gnomAD_OTH_AF":"0","gnomAD_SAS_AF":"0","MAX_AF":"0.0023","MAX_AF_POPS":"AFR","gnomAD_non_cancer_AF":"0.00010815299901878","gnomAD_non_cancer_AFR_AF":"0.0003646970144473","gnomAD_non_cancer_AMI_AF":"0","gnomAD_non_cancer_AMR_AF":"0","gnomAD_non_cancer_ASJ_AF":"0","gnomAD_non_cancer_EAS_AF":"0","gnomAD_non_cancer_FIN_AF":"0","gnomAD_non_cancer_MID_AF":"0","gnomAD_non_cancer_NFE_AF":"1.54350000229897e-05","gnomAD_non_cancer_OTH_AF":"0","gnomAD_non_cancer_SAS_AF":"0","gnomAD_non_cancer_MAX_AF_adj":"0.0003646970144473","gnomAD_non_cancer_MAX_AF_POPS_adj":"afr","IMPACT":"LOW","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"CONTEXT":"CCCCCCACCTG","tumor_bam_uuid":"b7929d65-5ce1-483a-8127-3254e264a2a6","normal_bam_uuid":"68f7fc62-ae4b-409d-81a7-6b0b425a7497","case_id":"32a7b827-c3f9-4607-ae63-dae8caa2bc97","hotspot":"N","RNA_Support":"Unknown","callers":"muse;varscan2"}
{"X1":"512","Hugo_Symbol":"PSG4","Entrez_Gene_Id":5672,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr19","Start_Position":43198023,"End_Position":43198023,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-49-4487-01A-21D-1855-08","Matched_Norm_Sample_Barcode":"TCGA-49-4487-11A-01D-1855-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"9bd8e303-a81e-4ff8-882b-d46a2f7c55d2","Matched_Norm_Sample_UUID":"e723bda4-998c-4669-82a2-d392eb6b54be","HGVSc":"c.683G>T","HGVSp":"p.Ser228Ile","HGVSp_Short":"p.S228I","Transcript_ID":"ENST00000405312","Exon_Number":"3/6","t_depth":638,"t_ref_count":468,"t_alt_count":170,"n_depth":536,"all_effects":"PSG4,missense_variant,p.S228I,ENST00000405312,NM_001316339.2&NM_002780.5,c.683G>T,MODERATE,YES,deleterious(0),probably_damaging(0.999),-1;PSG4,missense_variant,p.S228I,ENST00000244295,NM_213633.3,c.683G>T,MODERATE,,deleterious(0),probably_damaging(1),-1;PSG4,missense_variant,p.S244I,ENST00000451895,,c.731G>T,MODERATE,,deleterious(0),probably_damaging(1),-1;PSG4,missense_variant,p.S106I,ENST00000596907,,c.317G>T,MODERATE,,tolerated(0.16),benign(0.209),-1;PSG4,missense_variant,p.S20I,ENST00000597374,,c.59G>T,MODERATE,,deleterious(0.04),benign(0.328),-1;PSG4,missense_variant,p.S85I,ENST00000599371,,c.254G>T,MODERATE,,deleterious(0),probably_damaging(0.999),-1;PSG4,missense_variant,p.S106I,ENST00000599391,,c.317G>T,MODERATE,,deleterious(0),probably_damaging(0.998),-1;PSG4,intron_variant,,ENST00000433626,NM_001276495.1,c.431-2750G>T,MODIFIER,,,,-1;PSG4,intron_variant,,ENST00000599746,,c.367-2750G>T,MODIFIER,,,,-1;PSG4,downstream_gene_variant,,ENST00000600572,,,MODIFIER,,,,-1;PSG4,3_prime_UTR_variant,,ENST00000595949,,c.*534G>T,MODIFIER,,,,-1;PSG4,3_prime_UTR_variant,,ENST00000601041,,c.*13G>T,MODIFIER,,,,-1;PSG4,non_coding_transcript_exon_variant,,ENST00000495316,,n.419G>T,MODIFIER,,,,-1;PSG4,non_coding_transcript_exon_variant,,ENST00000596199,,n.419G>T,MODIFIER,,,,-1;PSG4,upstream_gene_variant,,ENST00000490769,,,MODIFIER,,,,-1;PSG4,upstream_gene_variant,,ENST00000597349,,,MODIFIER,,,,-1","Allele":"A","Gene":"ENSG00000243137","Feature":"ENST00000405312","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"785/2032","CDS_position":"683/1260","Protein_position":"228/419","Amino_acids":"S/I","Codons":"aGt/aTt","Existing_variation":"COSV54940702","TRANSCRIPT_STRAND":-1,"SYMBOL":"PSG4","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:9521","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS46093.1","ENSP":"ENSP00000384770","SWISSPROT":"Q00888.188","UNIPARC":"UPI000034ECBA","UNIPROT_ISOFORM":"Q00888-1","RefSeq":"NM_001316339.2;NM_002780.5","MANE":"NM_002780.5","APPRIS":"P1","SIFT":"deleterious(0)","PolyPhen":"probably_damaging(0.999)","EXON":"3/6","DOMAINS":"PROSITE_profiles:PS50835;PANTHER:PTHR44427;PANTHER:PTHR44427:SF17;Gene3D:2.60.40.10;SMART:SM00409;Superfamily:SSF48726","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","CONTEXT":"GGTCACTGCGG","tumor_bam_uuid":"bf7589be-b2cc-440c-84a8-7de24f6e28fc","normal_bam_uuid":"119ea2f1-5edc-4465-8efa-c22ea160fbe2","case_id":"bd4e9a9f-17f3-4d33-92fc-fcc45dd0e7b4","COSMIC":"COSM6085462;COSM6085463","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"340","Hugo_Symbol":"DISP3","Entrez_Gene_Id":57540,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr1","Start_Position":11519457,"End_Position":11519457,"Strand":"+","Variant_Classification":"Silent","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-64-5781-01A-01D-1625-08","Matched_Norm_Sample_Barcode":"TCGA-64-5781-10A-01D-1625-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce","Matched_Norm_Sample_UUID":"3bd98c92-eaf2-4469-bc17-509bb7cd2197","HGVSc":"c.1992C>A","HGVSp":"p.Pro664=","HGVSp_Short":"p.P664=","Transcript_ID":"ENST00000294484","Exon_Number":"8/21","t_depth":163,"t_ref_count":133,"t_alt_count":29,"n_depth":187,"all_effects":"DISP3,synonymous_variant,p.P664=,ENST00000294484,NM_020780.2,c.1992C>A,LOW,YES,,,1","Allele":"A","Gene":"ENSG00000204624","Feature":"ENST00000294484","Feature_type":"Transcript","One_Consequence":"synonymous_variant","Consequence":"synonymous_variant","cDNA_position":"2213/5265","CDS_position":"1992/4179","Protein_position":"664/1392","Amino_acids":"P","Codons":"ccC/ccA","Existing_variation":"COSV53838593","TRANSCRIPT_STRAND":1,"SYMBOL":"DISP3","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:29251","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS41247.1","ENSP":"ENSP00000294484","SWISSPROT":"Q9P2K9.124","UNIPARC":"UPI00001C1D7A","UNIPROT_ISOFORM":"Q9P2K9-1","RefSeq":"NM_020780.2","MANE":"NM_020780.2","APPRIS":"P1","EXON":"8/21","DOMAINS":"PANTHER:PTHR46687","SOMATIC":"1","IMPACT":"LOW","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","CONTEXT":"ATACCCTACCT","tumor_bam_uuid":"d7efa6c5-a0f2-4845-a009-5417944d76d5","normal_bam_uuid":"10e2e3c0-0507-45eb-84ed-dd1edd04ac50","case_id":"41c4c704-825e-49f5-9d54-dbd7d30725e0","COSMIC":"COSM6057434;COSM6057435","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"179","Hugo_Symbol":"BCHE","Entrez_Gene_Id":590,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr3","Start_Position":165830938,"End_Position":165830938,"Strand":"+","Variant_Classification":"Silent","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"T","Tumor_Sample_Barcode":"TCGA-86-8073-01A-11D-2238-08","Matched_Norm_Sample_Barcode":"TCGA-86-8073-10A-01D-2238-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"b7268ee3-2840-467c-9e11-8e269ccc60a8","Matched_Norm_Sample_UUID":"653e6401-123b-4136-b07b-26c50359235e","HGVSc":"c.96C>A","HGVSp":"p.Ile32=","HGVSp_Short":"p.I32=","Transcript_ID":"ENST00000264381","Exon_Number":"2/4","t_depth":70,"t_ref_count":54,"t_alt_count":16,"n_depth":46,"all_effects":"BCHE,synonymous_variant,p.I32=,ENST00000264381,NM_000055.4,c.96C>A,LOW,YES,,,-1;BCHE,intron_variant,,ENST00000479451,,c.107+6376C>A,MODIFIER,,,,-1;BCHE,intron_variant,,ENST00000488954,,c.107+6376C>A,MODIFIER,,,,-1;BCHE,synonymous_variant,p.I32=,ENST00000482958,,c.96C>A,LOW,,,,-1;BCHE,synonymous_variant,p.I32=,ENST00000497011,,c.96C>A,LOW,,,,-1;LINC01322,intron_variant,,ENST00000651449,,n.1008-14954G>T,MODIFIER,,,,1","Allele":"T","Gene":"ENSG00000114200","Feature":"ENST00000264381","Feature_type":"Transcript","One_Consequence":"synonymous_variant","Consequence":"synonymous_variant","cDNA_position":"214/2405","CDS_position":"96/1809","Protein_position":"32/602","Amino_acids":"I","Codons":"atC/atA","Existing_variation":"COSV100012312;COSV52255504","TRANSCRIPT_STRAND":-1,"SYMBOL":"BCHE","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:983","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS3198.1","ENSP":"ENSP00000264381","SWISSPROT":"P06276.214","UNIPARC":"UPI0000127866","RefSeq":"NM_000055.4","MANE":"NM_000055.4","APPRIS":"P1","EXON":"2/4","DOMAINS":"PDB-ENSP_mappings:1p0i.A;PDB-ENSP_mappings:1p0m.A;PDB-ENSP_mappings:1p0p.A;PDB-ENSP_mappings:1p0q.A;PDB-ENSP_mappings:1xlu.A;PDB-ENSP_mappings:1xlv.A;PDB-ENSP_mappings:1xlw.A;PDB-ENSP_mappings:2j4c.A;PDB-ENSP_mappings:2pm8.A;PDB-ENSP_mappings:2pm8.B;PDB-ENSP_mappings:2wid.A;PDB-ENSP_mappings:2wif.A;PDB-ENSP_mappings:2wig.A;PDB-ENSP_mappings:2wij.A;PDB-ENSP_mappings:2wik.A;PDB-ENSP_mappings:2wil.A;PDB-ENSP_mappings:2wil.B;PDB-ENSP_mappings:2wsl.A;PDB-ENSP_mappings:2xmb.A;PDB-ENSP_mappings:2xmc.A;PDB-ENSP_mappings:2xmd.A;PDB-ENSP_mappings:2xmg.A;PDB-ENSP_mappings:2xqf.A;PDB-ENSP_mappings:2xqg.A;PDB-ENSP_mappings:2xqi.A;PDB-ENSP_mappings:2xqj.A;PDB-ENSP_mappings:2xqk.A;PDB-ENSP_mappings:2y1k.A;PDB-ENSP_mappings:3djy.A;PDB-ENSP_mappings:3dkk.A;PDB-ENSP_mappings:3o9m.A;PDB-ENSP_mappings:3o9m.B;PDB-ENSP_mappings:4aqd.A;PDB-ENSP_mappings:4aqd.B;PDB-ENSP_mappings:4axb.A;PDB-ENSP_mappings:4b0o.A;PDB-ENSP_mappings:4b0p.A;PDB-ENSP_mappings:4bbz.A;PDB-ENSP_mappings:4bds.A;PDB-ENSP_mappings:4tpk.A;PDB-ENSP_mappings:4tpk.B;PDB-ENSP_mappings:4xii.A;PDB-ENSP_mappings:4xii.B;PDB-ENSP_mappings:5dyt.A;PDB-ENSP_mappings:5dyt.B;PDB-ENSP_mappings:5dyw.A;PDB-ENSP_mappings:5dyw.B;PDB-ENSP_mappings:5dyy.A;PDB-ENSP_mappings:5dyy.B;PDB-ENSP_mappings:5k5e.A;PDB-ENSP_mappings:5k5e.B;PDB-ENSP_mappings:5lkr.A;PDB-ENSP_mappings:5lkr.B;PDB-ENSP_mappings:5nn0.A;PDB-ENSP_mappings:6emi.A;PDB-ENSP_mappings:6emi.B;PDB-ENSP_mappings:6ep4.A;PDB-ENSP_mappings:6eqp.A;PDB-ENSP_mappings:6eqq.A;PDB-ENSP_mappings:6esj.A;PDB-ENSP_mappings:6esj.B;PDB-ENSP_mappings:6esy.A;PDB-ENSP_mappings:6esy.B;PDB-ENSP_mappings:6eul.A;PDB-ENSP_mappings:6eyf.A;PDB-ENSP_mappings:6ez2.A;PDB-ENSP_mappings:6ez2.B;PDB-ENSP_mappings:6f7q.A;PDB-ENSP_mappings:6f7q.B;PDB-ENSP_mappings:6i0b.A;PDB-ENSP_mappings:6i0c.A;PDB-ENSP_mappings:6i2t.A;PDB-ENSP_mappings:6i2t.B;PDB-ENSP_mappings:6i2t.C;PDB-ENSP_mappings:6i2t.D;PDB-ENSP_mappings:6qaa.A;PDB-ENSP_mappings:6qab.A;PDB-ENSP_mappings:6qac.A;PDB-ENSP_mappings:6qad.A;PDB-ENSP_mappings:6qae.A;PDB-ENSP_mappings:6r6v.A;PDB-ENSP_mappings:6r6w.A;PDB-ENSP_mappings:6rua.A;PDB-ENSP_mappings:6rua.B;PDB-ENSP_mappings:6sam.A;PANTHER:PTHR43918;PANTHER:PTHR43918:SF5;Gene3D:3.40.50.1820;Pfam:PF00135;Superfamily:SSF53474","SOMATIC":"1;1","IMPACT":"LOW","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1;1","GENE_PHENO":"1","CONTEXT":"ATTATGATGTC","tumor_bam_uuid":"f9aa0e56-bd51-42c1-8e42-ca452b9748ff","normal_bam_uuid":"035edb39-aa44-4b26-b409-3558f2903753","case_id":"cd902d08-215e-4bd0-88e4-4fd01ab43cbf","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"272","Hugo_Symbol":"FRY","Entrez_Gene_Id":10129,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr13","Start_Position":32061160,"End_Position":32061160,"Strand":"+","Variant_Classification":"Intron","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"A","dbSNP_RS":"novel","Tumor_Sample_Barcode":"TCGA-73-A9RS-01A-11D-A410-08","Matched_Norm_Sample_Barcode":"TCGA-73-A9RS-10A-01D-A413-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"7c89393e-6976-44d5-896d-5648b0d092f4","Matched_Norm_Sample_UUID":"3ad125f9-b7cc-4814-b1e8-983a26dcd72c","HGVSc":"c.71-17674C>A","Transcript_ID":"ENST00000542859","t_depth":24,"t_ref_count":17,"t_alt_count":6,"n_depth":16,"all_effects":"FRY,missense_variant,p.L20I,ENST00000436046,,c.58C>A,MODERATE,,tolerated_low_confidence(0.1),benign(0.022),1;FRY,intron_variant,,ENST00000380250,,c.71-17674C>A,MODIFIER,,,,1;FRY,intron_variant,,ENST00000542859,NM_023037.3,c.71-17674C>A,MODIFIER,,,,1;FRY,intron_variant,,ENST00000642040,,c.71-17674C>A,MODIFIER,,,,1;FRY,intron_variant,,ENST00000645780,,c.-80-17674C>A,MODIFIER,,,,1;FRY,intron_variant,,ENST00000647500,,c.206-17674C>A,MODIFIER,YES,,,1","Allele":"A","Gene":"ENSG00000073910","Feature":"ENST00000542859","Feature_type":"Transcript","One_Consequence":"intron_variant","Consequence":"intron_variant","TRANSCRIPT_STRAND":1,"SYMBOL":"FRY","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:20367","BIOTYPE":"protein_coding","CCDS":"CCDS41875.1","ENSP":"ENSP00000445043","SWISSPROT":"Q5TBA9.129","UNIPARC":"UPI000046FD40","RefSeq":"NM_023037.3","MANE":"NM_023037.3","APPRIS":"P4","INTRON":"1/60","IMPACT":"MODIFIER","VARIANT_CLASS":"SNV","TSL":5,"GENE_PHENO":"1","CONTEXT":"AAGGGCTTGGT","tumor_bam_uuid":"2ebbaf59-2d2d-46d9-a3b1-9926c4d982ab","normal_bam_uuid":"9a730bc0-3aa1-496a-8c7a-cc6f3d4320b6","case_id":"2a394996-809f-459f-a647-d209921ccbd2","hotspot":"N","RNA_Support":"Unknown","callers":"muse;varscan2"}
{"X1":"343","Hugo_Symbol":"RIMS2","Entrez_Gene_Id":9699,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr8","Start_Position":103931299,"End_Position":103931299,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"A","Tumor_Seq_Allele1":"A","Tumor_Seq_Allele2":"G","Tumor_Sample_Barcode":"TCGA-44-2656-01A-02W-0928-08","Matched_Norm_Sample_Barcode":"TCGA-44-2656-10A-01D-0969-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"b2773f71-23ca-4f92-99cb-1452846a1b36","Matched_Norm_Sample_UUID":"03b8420d-480f-48e1-88a7-8ee9917049a6","HGVSc":"c.2233A>G","HGVSp":"p.Ile745Val","HGVSp_Short":"p.I745V","Transcript_ID":"ENST00000666250","Exon_Number":"11/31","t_depth":167,"t_ref_count":151,"t_alt_count":16,"n_depth":40,"all_effects":"RIMS2,missense_variant,p.I553V,ENST00000507740,NM_001348507.2&NM_001348504.2&NM_001348499.2&NM_014677.5&NM_001348500.2&NM_001348508.2&NM_001348506.2&NM_001348502.2,c.1657A>G,MODERATE,,deleterious_low_confidence(0),benign(0.095),1;RIMS2,missense_variant,p.I745V,ENST00000666250,NM_001348490.2&NM_001348489.2,c.2233A>G,MODERATE,YES,deleterious(0),probably_damaging(0.988),1;RIMS2,missense_variant,p.I846V,ENST00000668113,NM_001348488.2&NM_001348484.2&NM_001348491.2&NM_001348486.2&NM_001348494.2&NM_001348497.2,c.2536A>G,MODERATE,,deleterious_low_confidence(0),probably_damaging(0.988),1;RIMS2,missense_variant,p.I539V,ENST00000436393,,c.1615A>G,MODERATE,,deleterious_low_confidence(0),possibly_damaging(0.872),1;RIMS2,missense_variant,p.I761V,ENST00000504942,NM_001348487.2&NM_001348492.2&NM_001348496.2&NM_001348495.2&NM_001100117.3&NM_001348493.2&NM_001348485.2,c.2281A>G,MODERATE,,deleterious_low_confidence(0),benign(0.208),1;RIMS2,missense_variant,p.I553V,ENST00000408894,NM_001348509.2&NM_001348498.2&NM_001348503.2&NM_001348501.2,c.1657A>G,MODERATE,,deleterious_low_confidence(0),benign(0.224),1;RIMS2,missense_variant,p.I600V,ENST00000262231,NM_001348505.2&NM_001282881.2,c.1798A>G,MODERATE,,deleterious_low_confidence(0),benign(0.054),1;RIMS2,missense_variant,p.I749V,ENST00000632716,,c.2245A>G,MODERATE,,deleterious(0),probably_damaging(0.945),1;RIMS2,missense_variant,p.I155V,ENST00000507677,,c.463A>G,MODERATE,,deleterious_low_confidence(0),possibly_damaging(0.858),1;RIMS2,missense_variant,p.I553V,ENST00000515551,,c.1657A>G,MODERATE,,deleterious_low_confidence(0),benign(0.209),1","Allele":"G","Gene":"ENSG00000176406","Feature":"ENST00000666250","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"2424/7564","CDS_position":"2233/4779","Protein_position":"745/1592","Amino_acids":"I/V","Codons":"Ata/Gta","Existing_variation":"COSV51658077","TRANSCRIPT_STRAND":1,"SYMBOL":"RIMS2","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:17283","BIOTYPE":"protein_coding","CANONICAL":"YES","ENSP":"ENSP00000499454","TREMBL":"A0A590UJL1.3","UNIPARC":"UPI00114B5792","RefSeq":"NM_001348490.2;NM_001348489.2","SIFT":"deleterious(0)","PolyPhen":"probably_damaging(0.988)","EXON":"11/31","DOMAINS":"Gene3D:2.60.40.150;Pfam:PF00168;PROSITE_profiles:PS50004;PANTHER:PTHR12157;PANTHER:PTHR12157:SF15;SMART:SM00239;Superfamily:SSF49562;CDD:cd04031","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","PHENO":"1","GENE_PHENO":"1","CONTEXT":"AATTAATAGTT","tumor_bam_uuid":"3543b887-5dbd-4038-b787-d7a6cb73842a","normal_bam_uuid":"ada4ffdf-3ba5-4ad0-8eb4-634d04b2b9b8","case_id":"42ca54fc-c1ae-41cd-bca1-7fe9810db460","COSMIC":"COSM6111561;COSM6111562;COSM6111563;COSM6111564;COSM6111565","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"495","Hugo_Symbol":"KSR1","Entrez_Gene_Id":8844,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr17","Start_Position":27582739,"End_Position":27582739,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"T","Tumor_Sample_Barcode":"TCGA-69-7979-01A-11D-2184-08","Matched_Norm_Sample_Barcode":"TCGA-69-7979-10A-01D-2184-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"6400fd9c-3e0d-417e-823a-bf9eb0129717","Matched_Norm_Sample_UUID":"caa9cc86-69ca-4da0-9356-2b49dfc88dad","HGVSc":"c.614G>T","HGVSp":"p.Ser205Ile","HGVSp_Short":"p.S205I","Transcript_ID":"ENST00000644974","Exon_Number":"4/21","t_depth":74,"t_ref_count":31,"t_alt_count":43,"n_depth":93,"all_effects":"KSR1,missense_variant,p.S68I,ENST00000398988,NM_014238.2,c.203G>T,MODERATE,,tolerated(0.15),benign(0.034),1;KSR1,missense_variant,p.S205I,ENST00000644974,NM_001367810.1,c.614G>T,MODERATE,YES,tolerated(0.16),benign(0.251),1;KSR1,missense_variant,p.S120I,ENST00000644418,,c.359G>T,MODERATE,,tolerated(0.21),benign(0.005),1;KSR1,missense_variant,p.S128I,ENST00000268763,,c.383G>T,MODERATE,,tolerated(0.15),benign(0.021),1;KSR1,missense_variant,p.S68I,ENST00000509603,,c.203G>T,MODERATE,,tolerated(0.15),benign(0.034),1;KSR1,missense_variant,p.S68I,ENST00000583370,,c.203G>T,MODERATE,,tolerated(0.11),benign(0.009),1;KSR1,upstream_gene_variant,,ENST00000398982,,,MODIFIER,,,,1;KSR1,non_coding_transcript_exon_variant,,ENST00000582311,,n.497G>T,MODIFIER,,,,1;KSR1,upstream_gene_variant,,ENST00000580822,,,MODIFIER,,,,1;KSR1,upstream_gene_variant,,ENST00000581975,,,MODIFIER,,,,1;KSR1,non_coding_transcript_exon_variant,,ENST00000579399,,n.278G>T,MODIFIER,,,,1;KSR1,downstream_gene_variant,,ENST00000398985,,,MODIFIER,,,,1;KSR1,upstream_gene_variant,,ENST00000577823,,,MODIFIER,,,,1","Allele":"T","Gene":"ENSG00000141068","Feature":"ENST00000644974","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"788/6004","CDS_position":"614/2787","Protein_position":"205/928","Amino_acids":"S/I","Codons":"aGc/aTc","Existing_variation":"COSV52035777","TRANSCRIPT_STRAND":1,"SYMBOL":"KSR1","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:6465","BIOTYPE":"protein_coding","CANONICAL":"YES","ENSP":"ENSP00000494552","TREMBL":"A0A2R8Y5H9.13","UNIPARC":"UPI0003EAFB52","RefSeq":"NM_001367810.1","APPRIS":"P1","SIFT":"tolerated(0.16)","PolyPhen":"benign(0.251)","EXON":"4/21","DOMAINS":"PANTHER:PTHR23257;PANTHER:PTHR23257:SF716","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","PHENO":"1","CONTEXT":"AGCCAGCCTGC","tumor_bam_uuid":"0db85f44-2f3a-4f28-8a66-486a47a34ce3","normal_bam_uuid":"cfba3ae5-92f5-43ab-9415-166ca42aa6dc","case_id":"a5bd7d50-9c14-49e6-89cf-6bf440c42309","COSMIC":"COSM6145830","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"335","Hugo_Symbol":"TECRL","Entrez_Gene_Id":253017,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr4","Start_Position":64305219,"End_Position":64305219,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-55-A4DG-01A-11D-A24D-08","Matched_Norm_Sample_Barcode":"TCGA-55-A4DG-10A-01D-A24F-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"3f396958-ecda-4de4-a790-5e3ed81f5753","Matched_Norm_Sample_UUID":"ddb66df4-7af1-41fc-8932-ec0268749f1a","HGVSc":"c.677G>T","HGVSp":"p.Gly226Val","HGVSp_Short":"p.G226V","Transcript_ID":"ENST00000381210","Exon_Number":"7/12","t_depth":45,"t_ref_count":35,"t_alt_count":10,"n_depth":117,"all_effects":"TECRL,missense_variant,p.G226V,ENST00000381210,NM_001010874.5,c.677G>T,MODERATE,YES,deleterious(0.04),probably_damaging(0.986),-1;TECRL,missense_variant,p.G226V,ENST00000507440,NM_001363796.1,c.677G>T,MODERATE,,deleterious(0.05),probably_damaging(1),-1;TECRL,non_coding_transcript_exon_variant,,ENST00000513125,,n.250G>T,MODIFIER,,,,-1;TECRL,non_coding_transcript_exon_variant,,ENST00000511356,,n.782G>T,MODIFIER,,,,-1","Allele":"A","Gene":"ENSG00000205678","Feature":"ENST00000381210","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"776/3561","CDS_position":"677/1092","Protein_position":"226/363","Amino_acids":"G/V","Codons":"gGa/gTa","Existing_variation":"COSV101169508","TRANSCRIPT_STRAND":-1,"SYMBOL":"TECRL","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:27365","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS33990.1","ENSP":"ENSP00000370607","SWISSPROT":"Q5HYJ1.99","UNIPARC":"UPI0000141A54","RefSeq":"NM_001010874.5","MANE":"NM_001010874.5","APPRIS":"P1","SIFT":"deleterious(0.04)","PolyPhen":"probably_damaging(0.986)","EXON":"7/12","DOMAINS":"Transmembrane_helices:TMhelix;PANTHER:PTHR10556;PANTHER:PTHR10556:SF27;Pfam:PF02544","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","GENE_PHENO":"1","CONTEXT":"TAAATCCCCAG","tumor_bam_uuid":"15cdf2bc-5237-4d91-8b1b-9cd1b7a0d682","normal_bam_uuid":"035110d5-944d-4f7f-8410-3b1af1e57f26","case_id":"3e34c7d9-90fa-41e2-ba6b-4bbc332adc4e","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"235","Hugo_Symbol":"ZAP70","Entrez_Gene_Id":7535,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr2","Start_Position":97734646,"End_Position":97734646,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"T","Tumor_Seq_Allele1":"T","Tumor_Seq_Allele2":"C","dbSNP_RS":"rs1328780961","Tumor_Sample_Barcode":"TCGA-78-8662-01A-11D-2393-08","Matched_Norm_Sample_Barcode":"TCGA-78-8662-10A-01D-2393-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"30a18e06-a219-42fb-934d-05dab59924d2","Matched_Norm_Sample_UUID":"9ba38ffb-4d0d-46f6-ac56-8eeb499610cc","HGVSc":"c.1016T>C","HGVSp":"p.Ile339Thr","HGVSp_Short":"p.I339T","Transcript_ID":"ENST00000264972","Exon_Number":"9/14","t_depth":224,"t_ref_count":123,"t_alt_count":101,"n_depth":242,"all_effects":"ZAP70,missense_variant,p.I339T,ENST00000264972,NM_001079.4&NM_001378594.1,c.1016T>C,MODERATE,YES,deleterious(0.01),benign(0.19),1;ZAP70,missense_variant,p.I32T,ENST00000451498,NM_207519.2,c.95T>C,MODERATE,,deleterious(0.05),benign(0.19),1;ZAP70,non_coding_transcript_exon_variant,,ENST00000463643,,n.877T>C,MODIFIER,,,,1;ZAP70,non_coding_transcript_exon_variant,,ENST00000487283,,n.1531T>C,MODIFIER,,,,1;ZAP70,downstream_gene_variant,,ENST00000483781,,,MODIFIER,,,,1;ZAP70,upstream_gene_variant,,ENST00000489250,,,MODIFIER,,,,1;ZAP70,upstream_gene_variant,,ENST00000495754,,,MODIFIER,,,,1;ZAP70,downstream_gene_variant,,ENST00000498836,,,MODIFIER,,,,1","Allele":"C","Gene":"ENSG00000115085","Feature":"ENST00000264972","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"1215/2421","CDS_position":"1016/1860","Protein_position":"339/619","Amino_acids":"I/T","Codons":"aTa/aCa","Existing_variation":"rs1328780961;COSV99385942","TRANSCRIPT_STRAND":1,"SYMBOL":"ZAP70","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:12858","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS33254.1","ENSP":"ENSP00000264972","SWISSPROT":"P43403.227","UNIPARC":"UPI000013C370","UNIPROT_ISOFORM":"P43403-1","RefSeq":"NM_001079.4;NM_001378594.1","MANE":"NM_001079.4","APPRIS":"P1","SIFT":"deleterious(0.01)","PolyPhen":"benign(0.19)","EXON":"9/14","DOMAINS":"PDB-ENSP_mappings:1u59.A;PDB-ENSP_mappings:2ozo.A;PDB-ENSP_mappings:4k2r.A;CDD:cd05115;PIRSF:PIRSF000604;Gene3D:3.30.200.20;SMART:SM00219;PROSITE_profiles:PS50011;PANTHER:PTHR24418:SF369;PANTHER:PTHR24418","gnomAD_AF":"3.978e-06","gnomAD_AFR_AF":"0","gnomAD_AMR_AF":"0","gnomAD_ASJ_AF":"0","gnomAD_EAS_AF":"0","gnomAD_FIN_AF":"0","gnomAD_NFE_AF":"8.795e-06","gnomAD_OTH_AF":"0","gnomAD_SAS_AF":"0","MAX_AF":"8.795e-06","MAX_AF_POPS":"gnomAD_NFE","SOMATIC":"0;1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"0;1","GENE_PHENO":"1","CONTEXT":"CCTCATAGCTG","tumor_bam_uuid":"a219922f-d967-4bb8-8215-2d8c7b5f9967","normal_bam_uuid":"def870a2-bbc3-4e7b-a8f8-1fb10a2c7ffc","case_id":"16e64a1e-08b0-4c27-8c69-fa64551f8ca4","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"451","Hugo_Symbol":"MYBL1","Entrez_Gene_Id":4603,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr8","Start_Position":66576313,"End_Position":66576313,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"C","Tumor_Sample_Barcode":"TCGA-05-4397-01A-01D-1265-08","Matched_Norm_Sample_Barcode":"TCGA-05-4397-10A-01D-1265-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"4b7be121-49af-4a44-95dd-0a487d47228f","Matched_Norm_Sample_UUID":"abaccb0a-5f60-45d6-aea2-6fb33a82b011","HGVSc":"c.1164C>G","HGVSp":"p.Ile388Met","HGVSp_Short":"p.I388M","Transcript_ID":"ENST00000522677","Exon_Number":"10/16","t_depth":258,"t_ref_count":249,"t_alt_count":9,"n_depth":262,"all_effects":"MYBL1,missense_variant,p.I388M,ENST00000522677,NM_001080416.4,c.1164C>G,MODERATE,YES,tolerated(0.12),benign(0.051),-1;MYBL1,missense_variant,p.I388M,ENST00000524176,NM_001294282.2&NM_001144755.3,c.1164C>G,MODERATE,,tolerated(0.12),benign(0.082),-1;MYBL1,intron_variant,,ENST00000517885,,c.318-180C>G,MODIFIER,,,,-1","Allele":"C","Gene":"ENSG00000185697","Feature":"ENST00000522677","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"1575/5192","CDS_position":"1164/2259","Protein_position":"388/752","Amino_acids":"I/M","Codons":"atC/atG","Existing_variation":"COSV72919058","TRANSCRIPT_STRAND":-1,"SYMBOL":"MYBL1","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:7547","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS47867.1","ENSP":"ENSP00000429633","SWISSPROT":"P10243.185","UNIPARC":"UPI000012FADE","UNIPROT_ISOFORM":"P10243-1","RefSeq":"NM_001080416.4","APPRIS":"P4","SIFT":"tolerated(0.12)","PolyPhen":"benign(0.051)","EXON":"10/16","DOMAINS":"PANTHER:PTHR45614;PANTHER:PTHR45614:SF9","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","CONTEXT":"GATTTGATAGG","tumor_bam_uuid":"539739e4-b59c-49ef-a7a5-3d597dd16ce4","normal_bam_uuid":"27b8d631-9c36-467c-a49a-d278004e906e","case_id":"6dfd47d2-831a-4386-9051-f78199a16bb5","COSMIC":"COSM6113577","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2"}
{"X1":"189","Hugo_Symbol":"SLIT3","Entrez_Gene_Id":6586,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr5","Start_Position":168724442,"End_Position":168724442,"Strand":"+","Variant_Classification":"Silent","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"G","Tumor_Sample_Barcode":"TCGA-05-4410-01A-21D-1855-08","Matched_Norm_Sample_Barcode":"TCGA-05-4410-10A-01D-1855-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"f85d0d42-436b-4251-a7fd-7d0f5fddd397","Matched_Norm_Sample_UUID":"e76567fb-2172-446f-87d3-afc4d7ef2b76","HGVSc":"c.2313G>C","HGVSp":"p.Leu771=","HGVSp_Short":"p.L771=","Transcript_ID":"ENST00000519560","Exon_Number":"21/36","t_depth":79,"t_ref_count":72,"t_alt_count":7,"n_depth":91,"all_effects":"SLIT3,synonymous_variant,p.L771=,ENST00000519560,NM_003062.4,c.2313G>C,LOW,,,,-1;SLIT3,synonymous_variant,p.L634=,ENST00000404867,,c.1902G>C,LOW,,,,-1;SLIT3,synonymous_variant,p.L771=,ENST00000332966,NM_001271946.2,c.2313G>C,LOW,YES,,,-1;SLIT3-AS2,downstream_gene_variant,,ENST00000522615,,,MODIFIER,YES,,,1","Allele":"G","Gene":"ENSG00000184347","Feature":"ENST00000519560","Feature_type":"Transcript","One_Consequence":"synonymous_variant","Consequence":"synonymous_variant","cDNA_position":"2743/9716","CDS_position":"2313/4572","Protein_position":"771/1523","Amino_acids":"L","Codons":"ctG/ctC","Existing_variation":"COSV60622202","TRANSCRIPT_STRAND":-1,"SYMBOL":"SLIT3","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:11087","BIOTYPE":"protein_coding","CCDS":"CCDS4369.1","ENSP":"ENSP00000430333","SWISSPROT":"O75094.182","UNIPARC":"UPI00001B0229","UNIPROT_ISOFORM":"O75094-1","RefSeq":"NM_003062.4","MANE":"NM_003062.4","APPRIS":"P1","EXON":"21/36","DOMAINS":"Gene3D:3.80.10.10;PROSITE_profiles:PS51450;PANTHER:PTHR45836;PANTHER:PTHR45836:SF9;Superfamily:SSF52058","SOMATIC":"1","IMPACT":"LOW","VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","CONTEXT":"GCGGACAGCTC","tumor_bam_uuid":"6eb276cd-f2bb-4620-bcaa-86681e8f01c9","normal_bam_uuid":"bf59c091-609d-431f-8966-64eaea595038","case_id":"d28e465c-e553-4c53-8bb7-3d8199b9a8a5","COSMIC":"COSM6102970;COSM6102971","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2"}
{"X1":"138","Hugo_Symbol":"SPATA31A1","Entrez_Gene_Id":647060,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr9","Start_Position":39358123,"End_Position":39358123,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"G","dbSNP_RS":"novel","Tumor_Sample_Barcode":"TCGA-55-A490-01A-11D-A24D-08","Matched_Norm_Sample_Barcode":"TCGA-55-A490-10A-01D-A24F-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"74d5cba2-8a3c-454c-8f94-e8d477dca675","Matched_Norm_Sample_UUID":"41817231-26ea-46b4-9568-170042b1bbfd","HGVSc":"c.358C>G","HGVSp":"p.Pro120Ala","HGVSp_Short":"p.P120A","Transcript_ID":"ENST00000377647","Exon_Number":"4/4","t_depth":182,"t_ref_count":121,"t_alt_count":61,"n_depth":161,"all_effects":"SPATA31A1,missense_variant,p.P120A,ENST00000377647,NM_001085452.4,c.358C>G,MODERATE,YES,tolerated(0.14),possibly_damaging(0.465),1;SPATA31A1,non_coding_transcript_exon_variant,,ENST00000473440,,n.209C>G,MODIFIER,,,,1;BX005214.3,downstream_gene_variant,,ENST00000615174,,,MODIFIER,YES,,,-1","Allele":"G","Gene":"ENSG00000204849","Feature":"ENST00000377647","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"420/4259","CDS_position":"358/4044","Protein_position":"120/1347","Amino_acids":"P/A","Codons":"Cca/Gca","TRANSCRIPT_STRAND":1,"SYMBOL":"SPATA31A1","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:23394","BIOTYPE":"protein_coding","CANONICAL":"YES","ENSP":"ENSP00000366875","SWISSPROT":"Q5TZJ5.100","UNIPARC":"UPI000021D2E0","RefSeq":"NM_001085452.4","MANE":"NM_001085452.4","APPRIS":"P1","SIFT":"tolerated(0.14)","PolyPhen":"possibly_damaging(0.465)","EXON":"4/4","DOMAINS":"Pfam:PF15371;PANTHER:PTHR21859;PANTHER:PTHR21859:SF45","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"CONTEXT":"CCGGTCCAGAC","tumor_bam_uuid":"34ca0b9c-2356-4e07-bca5-c24b36aaa984","normal_bam_uuid":"d7238a70-7ce1-45c3-81f0-de772c95462d","case_id":"b89de053-d253-447f-952e-9a2edcf6bca5","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"502","Hugo_Symbol":"OLFML2B","Entrez_Gene_Id":25903,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr1","Start_Position":162006392,"End_Position":162006392,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-95-7039-01A-11D-1945-08","Matched_Norm_Sample_Barcode":"TCGA-95-7039-10A-01D-1946-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"2d834605-102b-4b3a-a2fa-b26525c77acf","Matched_Norm_Sample_UUID":"fd2074ee-309f-48f9-a122-92a5bb8ee1f2","HGVSc":"c.628G>T","HGVSp":"p.Gly210Cys","HGVSp_Short":"p.G210C","Transcript_ID":"ENST00000294794","Exon_Number":"4/8","t_depth":130,"t_ref_count":100,"t_alt_count":29,"n_depth":85,"all_effects":"OLFML2B,missense_variant,p.G210C,ENST00000294794,NM_015441.2,c.628G>T,MODERATE,,tolerated(0.15),benign(0.302),-1;OLFML2B,missense_variant,p.G210C,ENST00000367940,NM_001297713.1&NM_001347700.1,c.628G>T,MODERATE,YES,tolerated(0.16),benign(0.319),-1","Allele":"A","Gene":"ENSG00000162745","Feature":"ENST00000294794","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"1052/3160","CDS_position":"628/2253","Protein_position":"210/750","Amino_acids":"G/C","Codons":"Ggc/Tgc","Existing_variation":"COSV54201127","TRANSCRIPT_STRAND":-1,"SYMBOL":"OLFML2B","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:24558","BIOTYPE":"protein_coding","CCDS":"CCDS1236.1","ENSP":"ENSP00000294794","SWISSPROT":"Q68BL8.112","UNIPARC":"UPI00001D7DE0","UNIPROT_ISOFORM":"Q68BL8-1","RefSeq":"NM_015441.2","APPRIS":"P4","SIFT":"tolerated(0.15)","PolyPhen":"benign(0.302)","EXON":"4/8","DOMAINS":"Coiled-coils_(Ncoils):Coil;PANTHER:PTHR23192;PANTHER:PTHR23192:SF37","SOMATIC":"1","IMPACT":"MODERATE","VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","CONTEXT":"TTTGCCTCGCT","tumor_bam_uuid":"07778240-7ff7-442d-bda7-41cd125e566f","normal_bam_uuid":"476724d7-6775-4121-bc23-5740ad8c77b6","case_id":"ae702159-5b6a-41dd-868c-7540f9e1131c","COSMIC":"COSM6122518","hotspot":"N","RNA_Support":"Unknown","callers":"muse;varscan2"}
{"X1":"148","Hugo_Symbol":"NAP1L1","Entrez_Gene_Id":4673,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr12","Start_Position":76050644,"End_Position":76050644,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-55-7907-01A-11D-2167-08","Matched_Norm_Sample_Barcode":"TCGA-55-7907-10A-01D-2167-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"0dbafe19-dd11-4a91-b946-ebd346121b64","Matched_Norm_Sample_UUID":"643450d7-0116-4289-a05d-ab41e2d3f5fb","HGVSc":"c.946G>T","HGVSp":"p.Ala316Ser","HGVSp_Short":"p.A316S","Transcript_ID":"ENST00000618691","Exon_Number":"12/15","t_depth":27,"t_ref_count":13,"t_alt_count":14,"n_depth":35,"all_effects":"NAP1L1,missense_variant,p.A316S,ENST00000618691,NM_004537.7&NM_001330231.2&NM_139207.5,c.946G>T,MODERATE,YES,tolerated(0.75),benign(0.006),-1;NAP1L1,missense_variant,p.A248S,ENST00000431879,,c.742G>T,MODERATE,,tolerated(0.89),benign(0),-1;NAP1L1,missense_variant,p.A310S,ENST00000552056,,c.928G>T,MODERATE,,tolerated(0.71),benign(0.006),-1;NAP1L1,missense_variant,p.A253S,ENST00000547773,NM_001330232.2,c.757G>T,MODERATE,,tolerated(0.73),benign(0),-1;NAP1L1,missense_variant,p.A316S,ENST00000393263,,c.946G>T,MODERATE,,tolerated(0.75),benign(0.006),-1;NAP1L1,missense_variant,p.A316S,ENST00000549596,,c.946G>T,MODERATE,,tolerated(0.71),benign(0.01),-1;NAP1L1,missense_variant,p.A316S,ENST00000535020,NM_001307924.3,c.946G>T,MODERATE,,tolerated(0.76),benign(0.006),-1;NAP1L1,missense_variant,p.A274S,ENST00000542344,,c.820G>T,MODERATE,,tolerated(0.7),benign(0.001),-1;NAP1L1,missense_variant,p.A133S,ENST00000544816,,c.397G>T,MODERATE,,tolerated(0.77),benign(0.006),-1;NAP1L1,missense_variant,p.A327S,ENST00000552342,,c.979G>T,MODERATE,,tolerated(0.66),benign(0.003),-1;NAP1L1,missense_variant,p.A275S,ENST00000548044,,c.823G>T,MODERATE,,tolerated(0.72),benign(0.01),-1;NAP1L1,downstream_gene_variant,,ENST00000547704,,,MODIFIER,,,,-1;NAP1L1,downstream_gene_variant,,ENST00000548273,,,MODIFIER,,,,-1;NAP1L1,downstream_gene_variant,,ENST00000550934,,,MODIFIER,,,,-1;NAP1L1,downstream_gene_variant,,ENST00000551600,,,MODIFIER,,,,-1;NAP1L1,downstream_gene_variant,,ENST00000551992,,,MODIFIER,,,,-1;NAP1L1,3_prime_UTR_variant,,ENST00000552147,,c.*23G>T,MODIFIER,,,,-1;NAP1L1,3_prime_UTR_variant,,ENST00000547529,,c.*23G>T,MODIFIER,,,,-1;NAP1L1,non_coding_transcript_exon_variant,,ENST00000547993,,n.2241G>T,MODIFIER,,,,-1;NAP1L1,non_coding_transcript_exon_variant,,ENST00000547969,,n.78G>T,MODIFIER,,,,-1;NAP1L1,upstream_gene_variant,,ENST00000552013,,,MODIFIER,,,,-1","Allele":"A","Gene":"ENSG00000187109","Feature":"ENST00000618691","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"1085/13159","CDS_position":"946/1176","Protein_position":"316/391","Amino_acids":"A/S","Codons":"Gct/Tct","Existing_variation":"COSV53876126","TRANSCRIPT_STRAND":-1,"SYMBOL":"NAP1L1","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:7637","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS9013.1","ENSP":"ENSP00000477538","SWISSPROT":"P55209.190","TREMBL":"A0A024RBB7.45","UNIPARC":"UPI0000052A55","UNIPROT_ISOFORM":"P55209-1","RefSeq":"NM_004537.7;NM_001330231.2;NM_139207.5","MANE":"NM_004537.7","APPRIS":"P4","SIFT":"tolerated(0.75)","PolyPhen":"benign(0.006)","EXON":"12/15","DOMAINS":"Gene3D:3.30.1120.90;Pfam:PF00956;PANTHER:PTHR11875;PANTHER:PTHR11875:SF70;Superfamily:SSF143113;Low_complexity_(Seg):seg","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","CONTEXT":"TTCAGCATCAT","tumor_bam_uuid":"402faa7d-eda4-4db8-8dd0-cb5270757b13","normal_bam_uuid":"33d8628d-03ec-479a-accc-1870c6141066","case_id":"bf755bc2-b7aa-4c3c-8b3c-58b089b5cab6","COSMIC":"COSM6138053","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"215","Hugo_Symbol":"AL133467.6","Entrez_Gene_Id":0,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr14","Start_Position":95669561,"End_Position":95669561,"Strand":"+","Variant_Classification":"5'Flank","Variant_Type":"SNP","Reference_Allele":"A","Tumor_Seq_Allele1":"A","Tumor_Seq_Allele2":"T","dbSNP_RS":"novel","Tumor_Sample_Barcode":"TCGA-67-3771-01A-01W-0928-08","Matched_Norm_Sample_Barcode":"TCGA-67-3771-10A-01D-1040-01","Mutation_Status":"Somatic","Tumor_Sample_UUID":"b850bfc1-7926-4bee-a0c4-e6e964765a6b","Matched_Norm_Sample_UUID":"24f1a1ea-733d-45b3-a51b-073807143f78","Transcript_ID":"ENST00000619064","t_depth":156,"t_ref_count":140,"t_alt_count":16,"n_depth":108,"all_effects":"AL133467.6,upstream_gene_variant,,ENST00000619064,,,MODIFIER,YES,,,1;TCL6,non_coding_transcript_exon_variant,,ENST00000497248,,n.3257A>T,MODIFIER,YES,,,1;TCL6,non_coding_transcript_exon_variant,,ENST00000484207,,n.3257A>T,MODIFIER,,,,1;TCL6,non_coding_transcript_exon_variant,,ENST00000486671,,n.1651A>T,MODIFIER,,,,1;TCL6,non_coding_transcript_exon_variant,,ENST00000465501,,n.78A>T,MODIFIER,,,,1;TCL6,non_coding_transcript_exon_variant,,ENST00000357168,,n.1521A>T,MODIFIER,,,,1;TCL6,non_coding_transcript_exon_variant,,ENST00000467865,,n.1832A>T,MODIFIER,,,,1;AL133467.3,non_coding_transcript_exon_variant,,ENST00000461160,,n.2287A>T,MODIFIER,YES,,,1;TCL6,non_coding_transcript_exon_variant,,ENST00000352367,,n.2287A>T,MODIFIER,,,,1;TCL6,non_coding_transcript_exon_variant,,ENST00000459662,,n.1476A>T,MODIFIER,,,,1;AL133467.3,non_coding_transcript_exon_variant,,ENST00000553913,,n.1832A>T,MODIFIER,,,,1;AL133467.3,non_coding_transcript_exon_variant,,ENST00000488933,,n.1832A>T,MODIFIER,,,,1;TCL6,non_coding_transcript_exon_variant,,ENST00000483087,,n.1671A>T,MODIFIER,,,,1;AL133467.3,intron_variant,,ENST00000495847,,n.2277-881A>T,MODIFIER,,,,1;TCL6,upstream_gene_variant,,ENST00000495696,,,MODIFIER,,,,1;TCL6,upstream_gene_variant,,ENST00000619182,,,MODIFIER,,,,1","Allele":"T","Gene":"ENSG00000277468","Feature":"ENST00000619064","Feature_type":"Transcript","One_Consequence":"upstream_gene_variant","Consequence":"upstream_gene_variant","DISTANCE":"880","TRANSCRIPT_STRAND":1,"SYMBOL":"AL133467.6","SYMBOL_SOURCE":"Clone_based_ensembl_gene","BIOTYPE":"misc_RNA","CANONICAL":"YES","IMPACT":"MODIFIER","VARIANT_CLASS":"SNV","CONTEXT":"AAGCAAGGCAC","tumor_bam_uuid":"02908bcd-ff6b-4611-a8b7-b1f7c18073a1","normal_bam_uuid":"930b209a-4ff6-4e76-a78d-fcba988e7330","case_id":"0df573ee-28f0-4244-b434-09e6ca59fbf0","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2"}
{"X1":"136","Hugo_Symbol":"BTBD11","Entrez_Gene_Id":121551,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr12","Start_Position":107617145,"End_Position":107617145,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-05-4390-01A-02D-1753-08","Matched_Norm_Sample_Barcode":"TCGA-05-4390-10A-01D-1753-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"d0854b5b-69be-4b84-aa37-ecdd0bc14de9","Matched_Norm_Sample_UUID":"b9b0fda8-ff98-4d0b-905d-38d9464cd3ab","HGVSc":"c.2058C>A","HGVSp":"p.Asn686Lys","HGVSp_Short":"p.N686K","Transcript_ID":"ENST00000280758","Exon_Number":"8/17","t_depth":104,"t_ref_count":77,"t_alt_count":27,"n_depth":79,"all_effects":"BTBD11,missense_variant,p.N686K,ENST00000280758,NM_001018072.2,c.2058C>A,MODERATE,YES,tolerated(0.5),probably_damaging(0.996),1;BTBD11,missense_variant,p.N686K,ENST00000490090,,c.2058C>A,MODERATE,,tolerated(0.49),probably_damaging(0.912),1;BTBD11,missense_variant,p.N223K,ENST00000357167,NM_001017523.2,c.669C>A,MODERATE,,tolerated(0.77),probably_damaging(0.988),1;BTBD11,missense_variant,p.N686K,ENST00000420571,NM_001347943.2&NM_001347944.1,c.2058C>A,MODERATE,,tolerated(1),possibly_damaging(0.712),1;AC007540.1,intron_variant,,ENST00000548473,,n.131+446G>T,MODIFIER,YES,,,-1","Allele":"A","Gene":"ENSG00000151136","Feature":"ENST00000280758","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"2565/5746","CDS_position":"2058/3315","Protein_position":"686/1104","Amino_acids":"N/K","Codons":"aaC/aaA","Existing_variation":"COSV55023487","TRANSCRIPT_STRAND":1,"SYMBOL":"BTBD11","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:23844","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS31893.1","ENSP":"ENSP00000280758","SWISSPROT":"A6QL63.109","UNIPARC":"UPI000051901E","UNIPROT_ISOFORM":"A6QL63-1","RefSeq":"NM_001018072.2","MANE":"NM_001018072.2","APPRIS":"A2","SIFT":"tolerated(0.5)","PolyPhen":"probably_damaging(0.996)","EXON":"8/17","DOMAINS":"PROSITE_profiles:PS50297;PANTHER:PTHR46071;PANTHER:PTHR46071:SF1;Pfam:PF12796;Gene3D:1.25.40.20;Superfamily:SSF48403","SOMATIC":"1","IMPACT":"MODERATE","VARIANT_CLASS":"SNV","TSL":5,"PHENO":"1","CONTEXT":"GAGAACTACTC","tumor_bam_uuid":"6117cc32-ed3d-4ce3-9f6a-38d453e38e83","normal_bam_uuid":"24178763-aa01-47ad-9d7d-79a917d99251","case_id":"b8475929-2d9d-4909-bd62-59684a140bd7","COSMIC":"COSM6071066;COSM6071067;COSM6071068","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"471","Hugo_Symbol":"ZNF256","Entrez_Gene_Id":10172,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr19","Start_Position":57941286,"End_Position":57941286,"Strand":"+","Variant_Classification":"Nonsense_Mutation","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"A","dbSNP_RS":"novel","Tumor_Sample_Barcode":"TCGA-17-Z059-01A-01W-0747-08","Matched_Norm_Sample_Barcode":"TCGA-17-Z059-11A-01W-0747-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"88ec6fb4-1b81-422e-8204-ef9e8dbf260c","Matched_Norm_Sample_UUID":"a7792af9-976e-44a2-b6df-4f450205ec29","HGVSc":"c.1522C>T","HGVSp":"p.Gln508Ter","HGVSp_Short":"p.Q508*","Transcript_ID":"ENST00000282308","Exon_Number":"3/3","t_depth":120,"t_ref_count":113,"t_alt_count":7,"n_depth":196,"all_effects":"ZNF256,stop_gained,p.Q508*,ENST00000282308,NM_001375403.1&NM_005773.3,c.1522C>T,HIGH,YES,,,-1;ZNF256,3_prime_UTR_variant,,ENST00000598928,,c.*1224C>T,MODIFIER,,,,-1","Allele":"A","Gene":"ENSG00000152454","Feature":"ENST00000282308","Feature_type":"Transcript","One_Consequence":"stop_gained","Consequence":"stop_gained","cDNA_position":"1754/2207","CDS_position":"1522/1884","Protein_position":"508/627","Amino_acids":"Q/*","Codons":"Caa/Taa","TRANSCRIPT_STRAND":-1,"SYMBOL":"ZNF256","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:13049","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS12966.1","ENSP":"ENSP00000282308","SWISSPROT":"Q9Y2P7.173","UNIPARC":"UPI00001D69EC","UNIPROT_ISOFORM":"Q9Y2P7-1","RefSeq":"NM_001375403.1;NM_005773.3","MANE":"NM_005773.3","APPRIS":"P1","EXON":"3/3","DOMAINS":"Gene3D:3.30.160.60;Pfam:PF00096;PROSITE_patterns:PS00028;PROSITE_profiles:PS50157;PANTHER:PTHR24377;PANTHER:PTHR24377:SF685;SMART:SM00355;Superfamily:SSF57667","IMPACT":"HIGH","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"CONTEXT":"GTGTTGAAGGA","tumor_bam_uuid":"2794b56c-aa7d-4de3-905b-349c6d9e6578","normal_bam_uuid":"e2276912-3be2-4ce4-ab89-fbadd53e869a","case_id":"77bb204d-4e68-4c93-905f-9ef4c53b1ce2","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2"}
{"X1":"300","Hugo_Symbol":"MYBPC3","Entrez_Gene_Id":4607,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr11","Start_Position":47352645,"End_Position":47352645,"Strand":"+","Variant_Classification":"Translation_Start_Site","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"T","dbSNP_RS":"rs397516045","Tumor_Sample_Barcode":"TCGA-05-5423-01A-01D-1625-08","Matched_Norm_Sample_Barcode":"TCGA-05-5423-10A-01D-1625-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"209d853d-6c50-4223-a572-a90d58aee51e","Matched_Norm_Sample_UUID":"6452e130-5262-4556-b762-a7c3b4e53f74","HGVSc":"c.3G>A","HGVSp":"p.Met1?","HGVSp_Short":"p.M1?","Transcript_ID":"ENST00000545968","Exon_Number":"1/35","t_depth":62,"t_ref_count":38,"t_alt_count":24,"n_depth":77,"all_effects":"MYBPC3,start_lost,p.M1?,ENST00000256993,,c.3G>A,HIGH,YES,deleterious_low_confidence(0),probably_damaging(0.986),-1;MYBPC3,start_lost,p.M1?,ENST00000399249,,c.3G>A,HIGH,,deleterious_low_confidence(0),probably_damaging(0.914),-1;MYBPC3,start_lost,p.M1?,ENST00000545968,NM_000256.3,c.3G>A,HIGH,,deleterious_low_confidence(0),possibly_damaging(0.838),-1;SPI1,downstream_gene_variant,,ENST00000227163,NM_001080547.2,,MODIFIER,YES,,,-1;SPI1,downstream_gene_variant,,ENST00000378538,NM_003120.3,,MODIFIER,,,,-1;SPI1,downstream_gene_variant,,ENST00000533030,,,MODIFIER,,,,-1;MYBPC3,start_lost,p.M1?,ENST00000544791,,c.3G>A,HIGH,,deleterious_low_confidence(0),probably_damaging(0.993),-1","Allele":"T","Gene":"ENSG00000134571","Feature":"ENST00000545968","Feature_type":"Transcript","One_Consequence":"start_lost","Consequence":"start_lost","cDNA_position":"58/4217","CDS_position":"3/3825","Protein_position":"1/1274","Amino_acids":"M/I","Codons":"atG/atA","Existing_variation":"rs397516045;COSV57032247","TRANSCRIPT_STRAND":-1,"SYMBOL":"MYBPC3","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:7551","BIOTYPE":"protein_coding","CCDS":"CCDS53621.1","ENSP":"ENSP00000442795","SWISSPROT":"Q14896.202","UNIPARC":"UPI000006EEAA","UNIPROT_ISOFORM":"Q14896-1","RefSeq":"NM_000256.3","MANE":"NM_000256.3","APPRIS":"P4","SIFT":"deleterious_low_confidence(0)","PolyPhen":"possibly_damaging(0.838)","EXON":"1/35","DOMAINS":"PDB-ENSP_mappings:6cxi.M;PDB-ENSP_mappings:6cxi.N;PDB-ENSP_mappings:6cxi.O;PDB-ENSP_mappings:6cxi.P;PDB-ENSP_mappings:6cxi.Q;PDB-ENSP_mappings:6cxj.M;PDB-ENSP_mappings:6cxj.N;PDB-ENSP_mappings:6cxj.O;PDB-ENSP_mappings:6cxj.P;PDB-ENSP_mappings:6cxj.Q","gnomAD_AF":"4.328e-06","gnomAD_AFR_AF":"0","gnomAD_AMR_AF":"0","gnomAD_ASJ_AF":"0","gnomAD_EAS_AF":"6.53e-05","gnomAD_FIN_AF":"0","gnomAD_NFE_AF":"0","gnomAD_OTH_AF":"0","gnomAD_SAS_AF":"0","MAX_AF":"6.53e-05","MAX_AF_POPS":"gnomAD_EAS","gnomAD_non_cancer_AF":"6.76343006489333e-06","gnomAD_non_cancer_AFR_AF":"0","gnomAD_non_cancer_AMI_AF":"0","gnomAD_non_cancer_AMR_AF":"0","gnomAD_non_cancer_ASJ_AF":"0","gnomAD_non_cancer_EAS_AF":"0.00020226500055287","gnomAD_non_cancer_FIN_AF":"0","gnomAD_non_cancer_MID_AF":"0","gnomAD_non_cancer_NFE_AF":"0","gnomAD_non_cancer_OTH_AF":"0","gnomAD_non_cancer_SAS_AF":"0","SOMATIC":"0;1","PUBMED":"24033266","IMPACT":"HIGH","VARIANT_CLASS":"SNV","TSL":5,"PHENO":"1;1","GENE_PHENO":"1","CONTEXT":"TCAGGCATCCT","tumor_bam_uuid":"f35ed53b-0b05-4f5c-aa5d-39fb1327ee59","normal_bam_uuid":"5b88514d-ccb2-4187-a897-c8175c4aa473","case_id":"33e3f736-7990-4f7a-ac35-863247566541","COSMIC":"COSM6068679;COSM6068680","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"239","Hugo_Symbol":"OR51A4","Entrez_Gene_Id":401666,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr11","Start_Position":4946288,"End_Position":4946288,"Strand":"+","Variant_Classification":"Silent","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"T","Tumor_Sample_Barcode":"TCGA-95-7562-01A-11D-2238-08","Matched_Norm_Sample_Barcode":"TCGA-95-7562-10B-01D-2238-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"853da3d9-cb26-4c93-8f69-a1bc3beb845c","Matched_Norm_Sample_UUID":"3445d7d3-2dd3-4d43-b187-6ab1c720fd42","HGVSc":"c.813C>A","HGVSp":"p.Pro271=","HGVSp_Short":"p.P271=","Transcript_ID":"ENST00000380373","Exon_Number":"1/1","t_depth":221,"t_ref_count":194,"t_alt_count":27,"n_depth":220,"all_effects":"OR51A4,synonymous_variant,p.P271=,ENST00000641898,,c.813C>A,LOW,YES,,,-1;OR51A4,synonymous_variant,p.P271=,ENST00000380373,NM_001005329.1,c.813C>A,LOW,,,,-1;MMP26,intron_variant,,ENST00000380390,,c.-144-41780G>T,MODIFIER,YES,,,1;MMP26,intron_variant,,ENST00000477339,,n.192-41982G>T,MODIFIER,,,,1","Allele":"T","Gene":"ENSG00000205497","Feature":"ENST00000380373","Feature_type":"Transcript","One_Consequence":"synonymous_variant","Consequence":"synonymous_variant","cDNA_position":"839/1002","CDS_position":"813/942","Protein_position":"271/313","Amino_acids":"P","Codons":"ccC/ccA","Existing_variation":"COSV100985161;COSV66749412","TRANSCRIPT_STRAND":-1,"SYMBOL":"OR51A4","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:14795","BIOTYPE":"protein_coding","CCDS":"CCDS31367.1","ENSP":"ENSP00000369731","SWISSPROT":"Q8NGJ6.139","UNIPARC":"UPI0000047195","RefSeq":"NM_001005329.1","APPRIS":"P1","EXON":"1/1","DOMAINS":"Gene3D:1.20.1070.10;Pfam:PF13853;PROSITE_profiles:PS50262;PANTHER:PTHR26450;PANTHER:PTHR26450:SF168;SMART:SM01381;Superfamily:SSF81321;CDD:cd15222","SOMATIC":"1;1","IMPACT":"LOW","VARIANT_CLASS":"SNV","PHENO":"1;1","CONTEXT":"ATGAGGGGAGA","tumor_bam_uuid":"6479d88e-1bc7-4e14-bceb-dba954d31189","normal_bam_uuid":"0a627121-b3e0-4056-b5a3-10da0546e73e","case_id":"193201a3-1447-47b1-bdf1-11ae0eb3b2f3","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"38","Hugo_Symbol":"NPAS1","Entrez_Gene_Id":4861,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr19","Start_Position":47021156,"End_Position":47021156,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-44-A479-01A-31D-A24D-08","Matched_Norm_Sample_Barcode":"TCGA-44-A479-10A-01D-A24F-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"b7f6750a-7c68-43c7-bb9e-73349bb5ca37","Matched_Norm_Sample_UUID":"5e1368d7-e4e9-4de9-b0ec-e9af27c10172","HGVSc":"c.109C>A","HGVSp":"p.Pro37Thr","HGVSp_Short":"p.P37T","Transcript_ID":"ENST00000449844","Exon_Number":"1/11","t_depth":15,"t_ref_count":10,"t_alt_count":5,"n_depth":11,"all_effects":"NPAS1,missense_variant,p.P37T,ENST00000602212,NM_002517.4,c.109C>A,MODERATE,YES,tolerated(0.18),benign(0.048),1;NPAS1,missense_variant,p.P37T,ENST00000449844,,c.109C>A,MODERATE,,tolerated(0.18),benign(0.048),1;NPAS1,intron_variant,,ENST00000602189,,c.-171+1159C>A,MODIFIER,,,,1","Allele":"A","Gene":"ENSG00000130751","Feature":"ENST00000449844","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"271/2043","CDS_position":"109/1773","Protein_position":"37/590","Amino_acids":"P/T","Codons":"Ccg/Acg","Existing_variation":"COSV101496972","TRANSCRIPT_STRAND":1,"SYMBOL":"NPAS1","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:7894","BIOTYPE":"protein_coding","CCDS":"CCDS12694.1","ENSP":"ENSP00000405290","SWISSPROT":"Q99742.173","UNIPARC":"UPI0000073CD1","UNIPROT_ISOFORM":"Q99742-1","APPRIS":"P1","SIFT":"tolerated(0.18)","PolyPhen":"benign(0.048)","EXON":"1/11","DOMAINS":"PANTHER:PTHR23043:SF25;PANTHER:PTHR23043","SOMATIC":"1","IMPACT":"MODERATE","VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","CONTEXT":"AGGCGCCGTCC","tumor_bam_uuid":"f45176a6-1005-408c-824b-6d0b2245bdb2","normal_bam_uuid":"79a05596-45e4-431f-a2e8-11f931218251","case_id":"851867cb-9ad0-4fdf-ac75-9bb0427ad440","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"498","Hugo_Symbol":"MEIS2","Entrez_Gene_Id":4212,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr15","Start_Position":36892215,"End_Position":36892215,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"A","Tumor_Seq_Allele1":"A","Tumor_Seq_Allele2":"T","Tumor_Sample_Barcode":"TCGA-64-5815-01A-01D-1625-08","Matched_Norm_Sample_Barcode":"TCGA-64-5815-10A-01D-1625-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"e800c8d4-786a-4a9d-ace2-2b779336e557","Matched_Norm_Sample_UUID":"b94df4ae-b346-411d-85a5-e60da27625ee","HGVSc":"c.1392T>A","HGVSp":"p.Asp464Glu","HGVSp_Short":"p.D464E","Transcript_ID":"ENST00000561208","Exon_Number":"12/12","t_depth":264,"t_ref_count":228,"t_alt_count":36,"n_depth":269,"all_effects":"MEIS2,missense_variant,p.D464E,ENST00000561208,NM_170675.5,c.1392T>A,MODERATE,YES,tolerated_low_confidence(0.33),benign(0.215),-1;MEIS2,missense_variant,p.D457E,ENST00000338564,NM_001220482.2&NM_170676.5,c.1371T>A,MODERATE,,tolerated_low_confidence(0.37),benign(0.386),-1;MEIS2,3_prime_UTR_variant,,ENST00000340545,NM_002399.3,c.*282T>A,MODIFIER,,,,-1;MEIS2,3_prime_UTR_variant,,ENST00000424352,NM_170677.5,c.*282T>A,MODIFIER,,,,-1;MEIS2,3_prime_UTR_variant,,ENST00000397624,,c.*282T>A,MODIFIER,,,,-1;MEIS2,3_prime_UTR_variant,,ENST00000557796,,c.*282T>A,MODIFIER,,,,-1;MEIS2,3_prime_UTR_variant,,ENST00000559085,NM_172315.3,c.*282T>A,MODIFIER,,,,-1;MEIS2,3_prime_UTR_variant,,ENST00000397620,NM_172316.2,c.*282T>A,MODIFIER,,,,-1;MEIS2,downstream_gene_variant,,ENST00000559561,NM_170674.5,,MODIFIER,,,,-1;MEIS2,downstream_gene_variant,,ENST00000607277,,,MODIFIER,,,,-1;MEIS2,downstream_gene_variant,,ENST00000559408,,,MODIFIER,,,,-1;MEIS2,3_prime_UTR_variant,,ENST00000314177,,c.*481T>A,MODIFIER,,,,-1;MEIS2,3_prime_UTR_variant,,ENST00000560570,,c.*1049T>A,MODIFIER,,,,-1;MEIS2,non_coding_transcript_exon_variant,,ENST00000560702,,n.2047T>A,MODIFIER,,,,-1;MEIS2,non_coding_transcript_exon_variant,,ENST00000561264,,n.469T>A,MODIFIER,,,,-1;MEIS2,non_coding_transcript_exon_variant,,ENST00000559972,,n.382T>A,MODIFIER,,,,-1;MEIS2,downstream_gene_variant,,ENST00000557992,,,MODIFIER,,,,-1;MEIS2,downstream_gene_variant,,ENST00000558643,,,MODIFIER,,,,-1;MEIS2,downstream_gene_variant,,ENST00000559371,,,MODIFIER,,,,-1;MEIS2,downstream_gene_variant,,ENST00000561284,,,MODIFIER,,,,-1","Allele":"T","Gene":"ENSG00000134138","Feature":"ENST00000561208","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"2475/5486","CDS_position":"1392/1434","Protein_position":"464/477","Amino_acids":"D/E","Codons":"gaT/gaA","Existing_variation":"COSV54941611","TRANSCRIPT_STRAND":-1,"SYMBOL":"MEIS2","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:7001","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS10044.1","ENSP":"ENSP00000453793","SWISSPROT":"O14770.179","UNIPARC":"UPI000012EEBC","UNIPROT_ISOFORM":"O14770-1","RefSeq":"NM_170675.5","MANE":"NM_170675.5","APPRIS":"P4","SIFT":"tolerated_low_confidence(0.33)","PolyPhen":"benign(0.215)","EXON":"12/12","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","GENE_PHENO":"1","CONTEXT":"TTGGGATCTAC","tumor_bam_uuid":"b374d209-49f1-47b9-9963-df31668c7023","normal_bam_uuid":"104f41af-9bf2-4436-b615-709adbc1ac10","case_id":"a65700c2-e58c-4fd4-aeb1-5686b8f4d212","COSMIC":"COSM6077258","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"412","Hugo_Symbol":"DNAH10","Entrez_Gene_Id":196385,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr12","Start_Position":123784136,"End_Position":123784136,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"A","dbSNP_RS":"rs760223312","Tumor_Sample_Barcode":"TCGA-97-A4M5-01A-11D-A24P-08","Matched_Norm_Sample_Barcode":"TCGA-97-A4M5-10A-01D-A24P-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"a63c99df-c7d1-4308-980f-372d770e98ce","Matched_Norm_Sample_UUID":"cccc8422-3703-4b4c-a9ce-fdbf0c3d1620","HGVSc":"c.1189G>A","HGVSp":"p.Asp397Asn","HGVSp_Short":"p.D397N","Transcript_ID":"ENST00000409039","Exon_Number":"8/78","t_depth":135,"t_ref_count":122,"t_alt_count":13,"n_depth":90,"all_effects":"DNAH10,missense_variant,p.D397N,ENST00000673944,NM_001372106.1,c.1189G>A,MODERATE,YES,deleterious(0.05),possibly_damaging(0.556),1;DNAH10,missense_variant,p.D397N,ENST00000409039,,c.1189G>A,MODERATE,,tolerated(0.05),possibly_damaging(0.754),1;DNAH10,missense_variant,p.D336N,ENST00000638045,NM_207437.3,c.1006G>A,MODERATE,,tolerated(0.05),probably_damaging(0.976),1;DNAH10,missense_variant,p.D154N,ENST00000614082,,c.460G>A,MODERATE,,deleterious(0.02),probably_damaging(0.999),1;DNAH10,non_coding_transcript_exon_variant,,ENST00000467219,,n.544G>A,MODIFIER,,,,1;DNAH10,non_coding_transcript_exon_variant,,ENST00000447853,,n.521G>A,MODIFIER,,,,1","Allele":"A","Gene":"ENSG00000197653","Feature":"ENST00000409039","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"1338/13987","CDS_position":"1189/13599","Protein_position":"397/4532","Amino_acids":"D/N","Codons":"Gac/Aac","Existing_variation":"rs760223312;COSV101291930","TRANSCRIPT_STRAND":1,"SYMBOL":"DNAH10","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:2941","BIOTYPE":"protein_coding","ENSP":"ENSP00000386770","TREMBL":"A0A1C7CYW8.26","UNIPARC":"UPI0007E52C0C","SIFT":"tolerated(0.05)","PolyPhen":"possibly_damaging(0.754)","EXON":"8/78","DOMAINS":"PANTHER:PTHR10676:SF378;PANTHER:PTHR10676;Pfam:PF08385","gnomAD_AF":"1.193e-05","gnomAD_AFR_AF":"0","gnomAD_AMR_AF":"8.673e-05","gnomAD_ASJ_AF":"0","gnomAD_EAS_AF":"0","gnomAD_FIN_AF":"0","gnomAD_NFE_AF":"0","gnomAD_OTH_AF":"0","gnomAD_SAS_AF":"0","MAX_AF":"8.673e-05","MAX_AF_POPS":"gnomAD_AMR","gnomAD_non_cancer_AF":"6.75730007060338e-06","gnomAD_non_cancer_AFR_AF":"0","gnomAD_non_cancer_AMI_AF":"0","gnomAD_non_cancer_AMR_AF":"6.62515012663789e-05","gnomAD_non_cancer_ASJ_AF":"0","gnomAD_non_cancer_EAS_AF":"0","gnomAD_non_cancer_FIN_AF":"0","gnomAD_non_cancer_MID_AF":"0","gnomAD_non_cancer_NFE_AF":"0","gnomAD_non_cancer_OTH_AF":"0","gnomAD_non_cancer_SAS_AF":"0","SOMATIC":"0;1","IMPACT":"MODERATE","VARIANT_CLASS":"SNV","TSL":5,"PHENO":"0;1","CONTEXT":"CCTCAGACAAT","tumor_bam_uuid":"bb7fb01e-f85e-4167-b98e-3972d359f98a","normal_bam_uuid":"bc12aaa3-b99f-4ae9-9aa9-993980d96047","case_id":"5fe77d4a-a8a5-4c90-8ff2-9c3bbbb309ef","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2"}
{"X1":"526","Hugo_Symbol":"ZNF595","Entrez_Gene_Id":152687,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr4","Start_Position":86289,"End_Position":86289,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"T","Tumor_Sample_Barcode":"TCGA-62-A46O-01A-11D-A24D-08","Matched_Norm_Sample_Barcode":"TCGA-62-A46O-10A-01D-A24F-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"ff9ce3ef-d0d4-45b0-a506-e87732d1480e","Matched_Norm_Sample_UUID":"4fb194cb-66e6-484e-b119-b27f5cf8e487","HGVSc":"c.785G>T","HGVSp":"p.Gly262Val","HGVSp_Short":"p.G262V","Transcript_ID":"ENST00000610261","Exon_Number":"4/4","t_depth":38,"t_ref_count":19,"t_alt_count":19,"n_depth":48,"all_effects":"ZNF595,missense_variant,p.G262V,ENST00000610261,NM_182524.4,c.785G>T,MODERATE,YES,deleterious(0),probably_damaging(1),1;ZNF595,missense_variant,p.G230V,ENST00000609518,NM_001286052.1,c.689G>T,MODERATE,,deleterious(0.01),probably_damaging(0.988),1;ZNF595,missense_variant,p.G79V,ENST00000608255,NM_001286054.1&NM_001286053.1,c.236G>T,MODERATE,,deleterious(0),probably_damaging(0.999),1","Allele":"T","Gene":"ENSG00000272602","Feature":"ENST00000610261","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"953/2872","CDS_position":"785/1947","Protein_position":"262/648","Amino_acids":"G/V","Codons":"gGc/gTc","Existing_variation":"COSV100227339","TRANSCRIPT_STRAND":1,"SYMBOL":"ZNF595","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:27196","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS75075.1","ENSP":"ENSP00000477392","SWISSPROT":"Q8IYB9.130","UNIPARC":"UPI00001A9D0D","RefSeq":"NM_182524.4","MANE":"NM_182524.4","APPRIS":"P4","SIFT":"deleterious(0)","PolyPhen":"probably_damaging(1)","EXON":"4/4","DOMAINS":"Gene3D:3.30.160.60;Pfam:PF00096;PROSITE_patterns:PS00028;PROSITE_profiles:PS50157;PANTHER:PTHR23226;PANTHER:PTHR23226;PANTHER:PTHR23226:SF133;PANTHER:PTHR23226:SF133;SMART:SM00355;Superfamily:SSF57667","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","CONTEXT":"ATGTGGCAAAG","tumor_bam_uuid":"bd40159e-39f2-452f-b9a3-b25f9dfc31b7","normal_bam_uuid":"81f053ce-3443-4a62-9615-08e9ca5ebeae","case_id":"d7ae8efb-aa4d-4807-9772-55b0a28ccd5c","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"303","Hugo_Symbol":"KRT3","Entrez_Gene_Id":3850,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr12","Start_Position":52795860,"End_Position":52795860,"Strand":"+","Variant_Classification":"Silent","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"C","dbSNP_RS":"rs368081511","Tumor_Sample_Barcode":"TCGA-44-6777-01A-11D-1855-08","Matched_Norm_Sample_Barcode":"TCGA-44-6777-10A-01D-1855-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"32a0f0f3-3879-4b96-b9bb-eeab87827f6e","Matched_Norm_Sample_UUID":"2caae538-5cfd-474a-8619-f44f80e1ac9f","HGVSc":"c.183C>G","HGVSp":"p.Gly61=","HGVSp_Short":"p.G61=","Transcript_ID":"ENST00000417996","Exon_Number":"1/9","t_depth":126,"t_ref_count":111,"t_alt_count":15,"n_depth":141,"all_effects":"KRT3,synonymous_variant,p.G61=,ENST00000417996,NM_057088.3,c.183C>G,LOW,YES,,,-1","Allele":"C","Gene":"ENSG00000186442","Feature":"ENST00000417996","Feature_type":"Transcript","One_Consequence":"synonymous_variant","Consequence":"synonymous_variant","cDNA_position":"258/2319","CDS_position":"183/1887","Protein_position":"61/628","Amino_acids":"G","Codons":"ggC/ggG","Existing_variation":"rs368081511;COSV58816485","TRANSCRIPT_STRAND":-1,"SYMBOL":"KRT3","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:6440","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS44895.1","ENSP":"ENSP00000413479","SWISSPROT":"P12035.188","UNIPARC":"UPI000013EEC8","RefSeq":"NM_057088.3","MANE":"NM_057088.3","APPRIS":"P1","EXON":"1/9","DOMAINS":"PANTHER:PTHR45616;PANTHER:PTHR45616:SF38;Pfam:PF16208","gnomAD_non_cancer_AF":"1.35244999910356e-05","gnomAD_non_cancer_AFR_AF":"0","gnomAD_non_cancer_AMI_AF":"0","gnomAD_non_cancer_AMR_AF":"6.62691018078476e-05","gnomAD_non_cancer_ASJ_AF":"0","gnomAD_non_cancer_EAS_AF":"0","gnomAD_non_cancer_FIN_AF":"0","gnomAD_non_cancer_MID_AF":"0","gnomAD_non_cancer_NFE_AF":"1.54354002006585e-05","gnomAD_non_cancer_OTH_AF":"0","gnomAD_non_cancer_SAS_AF":"0","SOMATIC":"0;1","IMPACT":"LOW","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"0;1","GENE_PHENO":"1","CONTEXT":"TTGCCGCCCAG","tumor_bam_uuid":"2ef2e6d3-56a5-4f61-bc6c-0b80a9e73388","normal_bam_uuid":"0773ed3d-5622-4175-8165-8d128392e53d","case_id":"349e6f38-2c67-4a69-a777-b9173a2a27cf","COSMIC":"COSM6072945","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"226","Hugo_Symbol":"TGM5","Entrez_Gene_Id":9333,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr15","Start_Position":43239247,"End_Position":43239247,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"T","Tumor_Sample_Barcode":"TCGA-55-A48Y-01A-11D-A24D-08","Matched_Norm_Sample_Barcode":"TCGA-55-A48Y-10A-01D-A24F-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"43a5a5ca-7185-4361-86b6-82b9d99f036c","Matched_Norm_Sample_UUID":"85197715-a775-4ffa-838c-9b9935b3c78e","HGVSc":"c.1021G>A","HGVSp":"p.Glu341Lys","HGVSp_Short":"p.E341K","Transcript_ID":"ENST00000220420","Exon_Number":"8/13","t_depth":57,"t_ref_count":47,"t_alt_count":10,"n_depth":68,"all_effects":"TGM5,missense_variant,p.E341K,ENST00000220420,NM_201631.4,c.1021G>A,MODERATE,,deleterious(0.01),probably_damaging(1),-1;TGM5,missense_variant,p.E340K,ENST00000610827,,c.1018G>A,MODERATE,,deleterious(0.01),probably_damaging(1),-1;TGM5,missense_variant,p.E258K,ENST00000611276,,c.772G>A,MODERATE,,deleterious(0.02),probably_damaging(1),-1;TGM5,missense_variant,p.E342K,ENST00000622115,,c.1024G>A,MODERATE,YES,deleterious(0.01),probably_damaging(0.999),-1;TGM5,missense_variant,p.E259K,ENST00000349114,NM_004245.4,c.775G>A,MODERATE,,deleterious(0.02),probably_damaging(1),-1;TGM5,non_coding_transcript_exon_variant,,ENST00000396996,,n.497G>A,MODIFIER,,,,-1;TGM5,non_coding_transcript_exon_variant,,ENST00000635871,,n.490G>A,MODIFIER,,,,-1;TGM5,non_coding_transcript_exon_variant,,ENST00000563838,,n.254G>A,MODIFIER,,,,-1","Allele":"T","Gene":"ENSG00000104055","Feature":"ENST00000220420","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"1100/2843","CDS_position":"1021/2163","Protein_position":"341/720","Amino_acids":"E/K","Codons":"Gag/Aag","Existing_variation":"COSV99589097","TRANSCRIPT_STRAND":-1,"SYMBOL":"TGM5","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:11781","BIOTYPE":"protein_coding","CCDS":"CCDS32212.1","ENSP":"ENSP00000220420","SWISSPROT":"O43548.173","UNIPARC":"UPI0000136CCF","UNIPROT_ISOFORM":"O43548-1","RefSeq":"NM_201631.4","MANE":"NM_201631.4","APPRIS":"P4","SIFT":"deleterious(0.01)","PolyPhen":"probably_damaging(1)","EXON":"8/13","DOMAINS":"Gene3D:3.90.260.10;Pfam:PF01841;PIRSF:PIRSF000459;PANTHER:PTHR11590;PANTHER:PTHR11590:SF38;SMART:SM00460;Superfamily:SSF54001","SOMATIC":"1","IMPACT":"MODERATE","VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","GENE_PHENO":"1","CONTEXT":"GCACTCATTCC","tumor_bam_uuid":"858d22c3-cd41-49ed-aed4-855e0608ec78","normal_bam_uuid":"aba8d9b4-ac1a-41fb-b2e4-63709a0f30d7","case_id":"12c07138-e3fa-418a-89e3-628da12bc99e","hotspot":"N","RNA_Support":"Unknown","callers":"muse;varscan2"}
{"X1":"383","Hugo_Symbol":"HMGCS2","Entrez_Gene_Id":3158,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr1","Start_Position":119757321,"End_Position":119757321,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"C","Tumor_Sample_Barcode":"TCGA-NJ-A4YQ-01A-11D-A25L-08","Matched_Norm_Sample_Barcode":"TCGA-NJ-A4YQ-10A-01D-A25L-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"030aefdc-9ee8-4740-85ed-8c380265437a","Matched_Norm_Sample_UUID":"986b23fa-8ddd-45da-a28b-97c5ea6f69cd","HGVSc":"c.968C>G","HGVSp":"p.Ala323Gly","HGVSp_Short":"p.A323G","Transcript_ID":"ENST00000369406","Exon_Number":"5/10","t_depth":63,"t_ref_count":53,"t_alt_count":10,"n_depth":110,"all_effects":"HMGCS2,missense_variant,p.A323G,ENST00000369406,NM_005518.4,c.968C>G,MODERATE,YES,tolerated(0.41),benign(0),-1;HMGCS2,missense_variant,p.A281G,ENST00000544913,NM_001166107.1,c.842C>G,MODERATE,,tolerated(0.37),benign(0.005),-1;HMGCS2,non_coding_transcript_exon_variant,,ENST00000476640,,n.699C>G,MODIFIER,,,,-1;HMGCS2,non_coding_transcript_exon_variant,,ENST00000472375,,n.415C>G,MODIFIER,,,,-1","Allele":"C","Gene":"ENSG00000134240","Feature":"ENST00000369406","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"1029/2433","CDS_position":"968/1527","Protein_position":"323/508","Amino_acids":"A/G","Codons":"gCc/gGc","Existing_variation":"COSV101024761","TRANSCRIPT_STRAND":-1,"SYMBOL":"HMGCS2","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:5008","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS905.1","ENSP":"ENSP00000358414","SWISSPROT":"P54868.184","TREMBL":"A0A140VJL2.22","UNIPARC":"UPI000000DA7A","UNIPROT_ISOFORM":"P54868-1","RefSeq":"NM_005518.4","MANE":"NM_005518.4","APPRIS":"P1","SIFT":"tolerated(0.41)","PolyPhen":"benign(0)","EXON":"5/10","DOMAINS":"PDB-ENSP_mappings:2wya.A;PDB-ENSP_mappings:2wya.B;PDB-ENSP_mappings:2wya.C;PDB-ENSP_mappings:2wya.D;CDD:cd00827;PANTHER:PTHR43323;TIGRFAM:TIGR01833;Pfam:PF08540;Gene3D:3.40.47.10;Superfamily:SSF53901","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","GENE_PHENO":"1","CONTEXT":"TGCTGGCTGAC","tumor_bam_uuid":"f92c7033-1999-429c-9146-7cc868bd90de","normal_bam_uuid":"47a1ed88-3bfe-497e-aa70-9893b5c1275a","case_id":"52df074f-a402-4b78-9472-f8eb268efded","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"49","Hugo_Symbol":"HMCN1","Entrez_Gene_Id":83872,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr1","Start_Position":186137608,"End_Position":186137608,"Strand":"+","Variant_Classification":"Frame_Shift_Ins","Variant_Type":"INS","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"TT","Tumor_Sample_Barcode":"TCGA-44-6147-01A-11D-A271-08","Matched_Norm_Sample_Barcode":"TCGA-44-6147-10A-01D-1753-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"08d6dde8-4ca9-40bb-afb9-28036cf3a550","Matched_Norm_Sample_UUID":"3ca8208a-ca5b-45e8-968d-9f47b6201fd1","HGVSc":"c.13693delinsTT","HGVSp":"p.Gly4565LeufsTer17","HGVSp_Short":"p.G4565Lfs*17","Transcript_ID":"ENST00000271588","Exon_Number":"88/107","t_depth":67,"t_ref_count":55,"t_alt_count":12,"n_depth":36,"all_effects":"HMCN1,frameshift_variant,p.G4565Lfs*17,ENST00000271588,NM_031935.3,c.13693delinsTT,HIGH,YES,,,1","Allele":"TT","Gene":"ENSG00000143341","Feature":"ENST00000271588","Feature_type":"Transcript","One_Consequence":"frameshift_variant","Consequence":"frameshift_variant","cDNA_position":"14082/18368","CDS_position":"13693/16908","Protein_position":"4565/5635","Amino_acids":"G/LX","Codons":"Ggg/TTgg","Existing_variation":"COSV99623534","TRANSCRIPT_STRAND":1,"SYMBOL":"HMCN1","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:19194","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS30956.1","ENSP":"ENSP00000271588","SWISSPROT":"Q96RW7.162","UNIPARC":"UPI0000458C0E","UNIPROT_ISOFORM":"Q96RW7-1","RefSeq":"NM_031935.3","MANE":"NM_031935.3","APPRIS":"P1","EXON":"88/107","DOMAINS":"Gene3D:2.20.100.10;Pfam:PF00090;PROSITE_profiles:PS50092;PANTHER:PTHR44427;PANTHER:PTHR44427:SF13;SMART:SM00209;Superfamily:SSF82895","SOMATIC":"1","IMPACT":"HIGH","PICK":1,"VARIANT_CLASS":"indel","TSL":1,"PHENO":"1","GENE_PHENO":"1","CONTEXT":"ATGGTGGGAAG","tumor_bam_uuid":"4dfdf026-fd83-4121-a967-b4c743d67e53","normal_bam_uuid":"1de8cf98-e404-43a3-8f75-80eaebeed167","case_id":"889aec8e-14ba-48d9-8fe1-f2416e82b333","hotspot":"N","RNA_Support":"Unknown","callers":"mutect2*;pindel;varscan2*"}
{"X1":"365","Hugo_Symbol":"TRPM3","Entrez_Gene_Id":80036,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr9","Start_Position":70603458,"End_Position":70603458,"Strand":"+","Variant_Classification":"Nonsense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-05-4249-01A-01D-1105-08","Matched_Norm_Sample_Barcode":"TCGA-05-4249-10A-01D-1105-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"8be717b5-5b65-4631-a175-1f4c063d447e","Matched_Norm_Sample_UUID":"5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7","HGVSc":"c.2656G>T","HGVSp":"p.Gly886Ter","HGVSp_Short":"p.G886*","Transcript_ID":"ENST00000357533","Exon_Number":"19/25","t_depth":89,"t_ref_count":56,"t_alt_count":33,"n_depth":82,"all_effects":"TRPM3,stop_gained,p.G865*,ENST00000677713,NM_001366149.2&NM_001366145.2&NM_001366147.2,c.2593G>T,HIGH,,,,-1;TRPM3,stop_gained,p.G853*,ENST00000377110,NM_001366141.2&NM_001007471.4,c.2557G>T,HIGH,,,,-1;TRPM3,stop_gained,p.G744*,ENST00000360823,NM_206944.5&NM_206947.4,c.2230G>T,HIGH,,,,-1;TRPM3,stop_gained,p.G741*,ENST00000377105,NM_024971.6,c.2221G>T,HIGH,,,,-1;TRPM3,stop_gained,p.G886*,ENST00000357533,NM_001366142.2,c.2656G>T,HIGH,YES,,,-1;TRPM3,stop_gained,p.G754*,ENST00000396292,NM_206946.5,c.2260G>T,HIGH,,,,-1;TRPM3,stop_gained,p.G744*,ENST00000358082,,c.2230G>T,HIGH,,,,-1;TRPM3,stop_gained,p.G729*,ENST00000396285,NM_020952.6,c.2185G>T,HIGH,,,,-1;TRPM3,stop_gained,p.G741*,ENST00000408909,,c.2221G>T,HIGH,,,,-1;TRPM3,stop_gained,p.G731*,ENST00000396280,NM_206945.5,c.2191G>T,HIGH,,,,-1;TRPM3,stop_gained,p.G853*,ENST00000377111,NM_001366143.2&NM_001366150.2&NM_001366151.2&NM_001366146.2&NM_001366148.2&NM_001366152.2,c.2557G>T,HIGH,,,,-1;TRPM3,stop_gained,p.G741*,ENST00000677594,NM_001366154.2,c.2221G>T,HIGH,,,,-1","Allele":"A","Gene":"ENSG00000083067","Feature":"ENST00000357533","Feature_type":"Transcript","One_Consequence":"stop_gained","Consequence":"stop_gained","cDNA_position":"2656/5145","CDS_position":"2656/5136","Protein_position":"886/1711","Amino_acids":"G/*","Codons":"Gga/Tga","Existing_variation":"COSV100677897;COSV62594334","TRANSCRIPT_STRAND":-1,"SYMBOL":"TRPM3","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:17992","BIOTYPE":"protein_coding","CANONICAL":"YES","ENSP":"ENSP00000350140","TREMBL":"A2A3F7.94","UNIPARC":"UPI000066DA55","RefSeq":"NM_001366142.2","APPRIS":"A2","EXON":"19/25","DOMAINS":"Pfam:PF00520;PANTHER:PTHR13800;PANTHER:PTHR13800:SF7;Transmembrane_helices:TMhelix","SOMATIC":"1;1","IMPACT":"HIGH","PICK":1,"VARIANT_CLASS":"SNV","TSL":5,"PHENO":"1;1","GENE_PHENO":"1","CONTEXT":"GTATCCGATAT","tumor_bam_uuid":"388101d9-31b5-43b5-b187-6eb5204f8cc2","normal_bam_uuid":"ad1ed905-123b-48ef-97bc-f8e9b8cfdecc","case_id":"4addf05f-3668-4b3f-a17f-c0227329ca52","COSMIC":"COSM6115693;COSM6115694;COSM6115695;COSM6115696","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"283","Hugo_Symbol":"TTN","Entrez_Gene_Id":7273,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr2","Start_Position":178602453,"End_Position":178602453,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"T","Tumor_Seq_Allele1":"T","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-86-8585-01A-11D-2393-08","Matched_Norm_Sample_Barcode":"TCGA-86-8585-10A-01D-2393-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"e562aaa2-c8fe-4f32-ad9a-f847349e43ef","Matched_Norm_Sample_UUID":"b6b5a91b-c65b-402e-94a8-d703933b9f08","HGVSc":"c.50026A>T","HGVSp":"p.Thr16676Ser","HGVSp_Short":"p.T16676S","Transcript_ID":"ENST00000591111","Exon_Number":"233/313","t_depth":54,"t_ref_count":37,"t_alt_count":17,"n_depth":46,"all_effects":"TTN,missense_variant,p.T18317S,ENST00000589042,NM_001267550.2,c.54949A>T,MODERATE,YES,,benign(0.001),-1;TTN,missense_variant,p.T16676S,ENST00000591111,,c.50026A>T,MODERATE,,,benign(0.001),-1;TTN,missense_variant,p.T15749S,ENST00000342992,NM_133378.4&NM_001256850.1,c.47245A>T,MODERATE,,,benign(0),-1;TTN,missense_variant,p.T9252S,ENST00000460472,NM_003319.4,c.27754A>T,MODERATE,,,benign(0.003),-1;TTN,missense_variant,p.T9444S,ENST00000342175,NM_133437.4,c.28330A>T,MODERATE,,,,-1;TTN,missense_variant,p.T9377S,ENST00000359218,NM_133432.3,c.28129A>T,MODERATE,,,benign(0.003),-1;TTN-AS1,intron_variant,,ENST00000419746,,n.3917+1786T>A,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000456053,,n.649+4772T>A,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000585451,,n.198+78817T>A,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000586452,,n.753+1786T>A,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000589234,,n.510+1786T>A,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000589487,,n.110+1786T>A,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000589830,,n.86+4772T>A,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000589907,,n.506+4772T>A,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000590773,,n.683+4772T>A,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000590807,,n.395+1786T>A,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000592600,,n.962+1786T>A,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000592630,,n.519+4772T>A,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000592750,,n.431+4772T>A,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000610290,,n.521+1786T>A,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000625480,,n.135+4772T>A,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000625536,,n.393+1786T>A,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000626117,,n.336+4772T>A,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000626138,,n.245+1786T>A,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000626954,,n.160+4772T>A,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000628296,,n.421+1786T>A,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000628826,,n.50-34121T>A,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000630096,,n.904+1786T>A,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000653807,,n.415+1786T>A,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000657023,,n.314+1786T>A,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000659121,,n.502+4772T>A,MODIFIER,YES,,,1;TTN-AS1,intron_variant,,ENST00000671355,,n.1421+1786T>A,MODIFIER,,,,1;TTN-AS1,downstream_gene_variant,,ENST00000590932,,,MODIFIER,,,,1;TTN-AS1,downstream_gene_variant,,ENST00000591332,,,MODIFIER,,,,1;TTN-AS1,downstream_gene_variant,,ENST00000592689,,,MODIFIER,,,,1;TTN-AS1,downstream_gene_variant,,ENST00000626517,,,MODIFIER,,,,1;TTN-AS1,downstream_gene_variant,,ENST00000629117,,,MODIFIER,,,,1","Allele":"A","Gene":"ENSG00000155657","Feature":"ENST00000591111","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"50251/104301","CDS_position":"50026/103053","Protein_position":"16676/34350","Amino_acids":"T/S","Codons":"Act/Tct","Existing_variation":"COSV100594914","TRANSCRIPT_STRAND":-1,"SYMBOL":"TTN","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:12403","BIOTYPE":"protein_coding","ENSP":"ENSP00000465570","SWISSPROT":"Q8WZ42.192","UNIPARC":"UPI00025287CD","UNIPROT_ISOFORM":"Q8WZ42-1","PolyPhen":"benign(0.001)","EXON":"233/313","DOMAINS":"Gene3D:2.60.40.10;Pfam:PF00041;PROSITE_profiles:PS50853;PANTHER:PTHR13817;PANTHER:PTHR13817:SF10;SMART:SM00060;Superfamily:SSF49265;CDD:cd00063","SOMATIC":"1","IMPACT":"MODERATE","VARIANT_CLASS":"SNV","TSL":5,"PHENO":"1","GENE_PHENO":"1","CONTEXT":"GTCAGTAGTAC","tumor_bam_uuid":"ec333f08-1584-421f-b14f-b289fbdef091","normal_bam_uuid":"7c11c9e3-0e6d-4224-88f7-65bc8d9438af","case_id":"2f1a4b16-104c-40eb-8114-8245847bb716","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"254","Hugo_Symbol":"USH2A","Entrez_Gene_Id":7399,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr1","Start_Position":215934621,"End_Position":215934621,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-55-8511-01A-11D-2393-08","Matched_Norm_Sample_Barcode":"TCGA-55-8511-10A-01D-2393-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"6201ec98-4000-4ed2-b045-c5228a3e2d12","Matched_Norm_Sample_UUID":"9c287af3-d2fd-4dca-b2e0-0e92407f58d9","HGVSc":"c.7295C>T","HGVSp":"p.Pro2432Leu","HGVSp_Short":"p.P2432L","Transcript_ID":"ENST00000307340","Exon_Number":"38/72","t_depth":176,"t_ref_count":150,"t_alt_count":26,"n_depth":81,"all_effects":"USH2A,missense_variant,p.P2432L,ENST00000674083,,c.7295C>T,MODERATE,YES,deleterious(0),probably_damaging(0.984),-1;USH2A,missense_variant,p.P2432L,ENST00000307340,NM_206933.4,c.7295C>T,MODERATE,,deleterious(0),probably_damaging(0.997),-1","Allele":"A","Gene":"ENSG00000042781","Feature":"ENST00000307340","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"7734/18938","CDS_position":"7295/15609","Protein_position":"2432/5202","Amino_acids":"P/L","Codons":"cCa/cTa","Existing_variation":"COSV100235277","TRANSCRIPT_STRAND":-1,"SYMBOL":"USH2A","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:12601","BIOTYPE":"protein_coding","CCDS":"CCDS31025.1","ENSP":"ENSP00000305941","SWISSPROT":"O75445.173","UNIPARC":"UPI000034E5B6","UNIPROT_ISOFORM":"O75445-1","RefSeq":"NM_206933.4","MANE":"NM_206933.4","APPRIS":"P4","SIFT":"deleterious(0)","PolyPhen":"probably_damaging(0.997)","EXON":"38/72","DOMAINS":"Gene3D:2.60.40.10;PROSITE_profiles:PS50853;PANTHER:PTHR10574;PANTHER:PTHR10574:SF274;Superfamily:SSF49265;CDD:cd00063","SOMATIC":"1","IMPACT":"MODERATE","VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","GENE_PHENO":"1","CONTEXT":"CTCCTGGAGGC","tumor_bam_uuid":"00c617ed-f4ca-4b95-bf29-ca7c8d2135e6","normal_bam_uuid":"7310d353-7c0c-4ec2-b5e4-68a4deb079ed","case_id":"1f1df7ea-00b9-4432-86de-da773d1451e5","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"297","Hugo_Symbol":"PCDHA1","Entrez_Gene_Id":56147,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr5","Start_Position":140788037,"End_Position":140788037,"Strand":"+","Variant_Classification":"Silent","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-L4-A4E5-01A-11D-A24P-08","Matched_Norm_Sample_Barcode":"TCGA-L4-A4E5-10A-01D-A24P-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"16d0447f-5ca5-4218-b1c7-b833018d1e71","Matched_Norm_Sample_UUID":"f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8","HGVSc":"c.1747C>A","HGVSp":"p.Arg583=","HGVSp_Short":"p.R583=","Transcript_ID":"ENST00000504120","Exon_Number":"1/4","t_depth":69,"t_ref_count":34,"t_alt_count":35,"n_depth":119,"all_effects":"PCDHA1,synonymous_variant,p.R583=,ENST00000504120,NM_018900.4,c.1747C>A,LOW,YES,,,1;PCDHA1,synonymous_variant,p.R583=,ENST00000378133,NM_031410.2,c.1747C>A,LOW,,,,1;PCDHA1,intron_variant,,ENST00000394633,NM_031411.3,c.1602+145C>A,MODIFIER,,,,1;AC005609.5,non_coding_transcript_exon_variant,,ENST00000655235,,n.1475G>T,MODIFIER,YES,,,-1;AC005609.5,downstream_gene_variant,,ENST00000624176,,,MODIFIER,,,,-1;AC005609.5,downstream_gene_variant,,ENST00000624712,,,MODIFIER,,,,-1;AC005609.5,downstream_gene_variant,,ENST00000660962,,,MODIFIER,,,,-1","Allele":"A","Gene":"ENSG00000204970","Feature":"ENST00000504120","Feature_type":"Transcript","One_Consequence":"synonymous_variant","Consequence":"synonymous_variant","cDNA_position":"1898/5414","CDS_position":"1747/2853","Protein_position":"583/950","Amino_acids":"R","Codons":"Cga/Aga","Existing_variation":"COSV100974345;COSV65375766","TRANSCRIPT_STRAND":1,"SYMBOL":"PCDHA1","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:8663","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS54913.1","ENSP":"ENSP00000420840","SWISSPROT":"Q9Y5I3.171","UNIPARC":"UPI00001273C7","UNIPROT_ISOFORM":"Q9Y5I3-1","RefSeq":"NM_018900.4","MANE":"NM_018900.4","APPRIS":"P1","EXON":"1/4","DOMAINS":"Gene3D:2.60.40.60;PANTHER:PTHR24028;PANTHER:PTHR24028:SF92;Superfamily:SSF49313;CDD:cd11304","SOMATIC":"1;1","IMPACT":"LOW","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1;1","CONTEXT":"TGCCGCGATTG","tumor_bam_uuid":"b7929d65-5ce1-483a-8127-3254e264a2a6","normal_bam_uuid":"68f7fc62-ae4b-409d-81a7-6b0b425a7497","case_id":"32a7b827-c3f9-4607-ae63-dae8caa2bc97","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"546","Hugo_Symbol":"OR5B2","Entrez_Gene_Id":390190,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr11","Start_Position":58422433,"End_Position":58422433,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-86-A4JF-01A-11D-A24P-08","Matched_Norm_Sample_Barcode":"TCGA-86-A4JF-10A-01D-A24P-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"4b2dfe24-4585-47f8-8f97-04f734e3e38b","Matched_Norm_Sample_UUID":"637afdad-87c7-4832-9235-506369a19d1b","HGVSc":"c.829G>T","HGVSp":"p.Ala277Ser","HGVSp_Short":"p.A277S","Transcript_ID":"ENST00000302581","Exon_Number":"1/1","t_depth":90,"t_ref_count":81,"t_alt_count":8,"n_depth":144,"all_effects":"OR5B2,missense_variant,p.A277S,ENST00000641342,,c.829G>T,MODERATE,YES,tolerated_low_confidence(0.07),benign(0.023),-1;OR5B2,missense_variant,p.A277S,ENST00000302581,NM_001005566.2,c.829G>T,MODERATE,,tolerated_low_confidence(0.07),benign(0.023),-1","Allele":"A","Gene":"ENSG00000172365","Feature":"ENST00000302581","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"881/1049","CDS_position":"829/930","Protein_position":"277/309","Amino_acids":"A/S","Codons":"Gct/Tct","Existing_variation":"COSV100222987","TRANSCRIPT_STRAND":-1,"SYMBOL":"OR5B2","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:8323","BIOTYPE":"protein_coding","CCDS":"CCDS31550.1","ENSP":"ENSP00000303076","SWISSPROT":"Q96R09.146","UNIPARC":"UPI000004B227","RefSeq":"NM_001005566.2","APPRIS":"P1","SIFT":"tolerated_low_confidence(0.07)","PolyPhen":"benign(0.023)","EXON":"1/1","DOMAINS":"Transmembrane_helices:TMhelix;PROSITE_profiles:PS50262;CDD:cd15407;PANTHER:PTHR26452:SF3;PANTHER:PTHR26452;Pfam:PF13853;Gene3D:1.20.1070.10;Superfamily:SSF81321;Prints:PR00237","SOMATIC":"1","IMPACT":"MODERATE","VARIANT_CLASS":"SNV","PHENO":"1","CONTEXT":"CATAGCATAGA","tumor_bam_uuid":"e988c1dd-0c18-4eaa-a9f2-01e66a8a8f02","normal_bam_uuid":"b556a555-a6a3-497e-8732-01eaf8f20c08","case_id":"e01e4fb3-236a-4d16-9073-555876b688e9","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2"}
{"X1":"20","Hugo_Symbol":"TULP4","Entrez_Gene_Id":56995,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr6","Start_Position":158493583,"End_Position":158493583,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"C","Tumor_Sample_Barcode":"TCGA-78-7539-01A-11D-2063-08","Matched_Norm_Sample_Barcode":"TCGA-78-7539-10A-01D-2063-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"eda8bdf1-626a-417c-8c57-998b4a79872e","Matched_Norm_Sample_UUID":"7385c065-1d06-4525-b66b-cdcecedcb6b9","HGVSc":"c.1642G>C","HGVSp":"p.Glu548Gln","HGVSp_Short":"p.E548Q","Transcript_ID":"ENST00000367097","Exon_Number":"10/14","t_depth":90,"t_ref_count":78,"t_alt_count":12,"n_depth":87,"all_effects":"TULP4,missense_variant,p.E548Q,ENST00000367097,NM_020245.5,c.1642G>C,MODERATE,YES,deleterious(0.01),possibly_damaging(0.652),1;TULP4,missense_variant,p.E548Q,ENST00000367094,NM_001007466.3,c.1642G>C,MODERATE,,deleterious(0.04),benign(0.367),1;TULP4,missense_variant,p.L184F,ENST00000613390,,c.552G>C,MODERATE,,tolerated(0.32),benign(0.009),1","Allele":"C","Gene":"ENSG00000130338","Feature":"ENST00000367097","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"3194/11318","CDS_position":"1642/4632","Protein_position":"548/1543","Amino_acids":"E/Q","Codons":"Gag/Cag","Existing_variation":"COSV65574371","TRANSCRIPT_STRAND":1,"SYMBOL":"TULP4","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:15530","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS34561.1","ENSP":"ENSP00000356064","SWISSPROT":"Q9NRJ4.169","UNIPARC":"UPI000013CD76","UNIPROT_ISOFORM":"Q9NRJ4-1","RefSeq":"NM_020245.5","MANE":"NM_020245.5","APPRIS":"P1","SIFT":"deleterious(0.01)","PolyPhen":"possibly_damaging(0.652)","EXON":"10/14","DOMAINS":"MobiDB_lite:mobidb-lite;PANTHER:PTHR16517;PANTHER:PTHR16517:SF2","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","CONTEXT":"GCATTGAGGCC","tumor_bam_uuid":"1bbf30e9-2fe9-4dbe-b9bf-90d97b3b67de","normal_bam_uuid":"548f7d12-740c-4cac-81b4-4100c68942d7","case_id":"7be86a90-6da8-4c01-8a7a-bc5cfef9894f","COSMIC":"COSM6173037","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"107","Hugo_Symbol":"ABCB5","Entrez_Gene_Id":340273,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr7","Start_Position":20739008,"End_Position":20739008,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"T","Tumor_Sample_Barcode":"TCGA-55-A491-01A-11D-A24D-08","Matched_Norm_Sample_Barcode":"TCGA-55-A491-10A-01D-A24F-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"949edda8-03b3-458f-913c-8f624325a927","Matched_Norm_Sample_UUID":"ec26769f-b426-4d7d-9a04-d66689e215ce","HGVSc":"c.2893G>T","HGVSp":"p.Ala965Ser","HGVSp_Short":"p.A965S","Transcript_ID":"ENST00000404938","Exon_Number":"24/28","t_depth":31,"t_ref_count":21,"t_alt_count":10,"n_depth":19,"all_effects":"ABCB5,missense_variant,p.A965S,ENST00000404938,NM_001163941.2,c.2893G>T,MODERATE,YES,deleterious(0.04),possibly_damaging(0.787),1;ABCB5,missense_variant,p.A520S,ENST00000258738,NM_178559.6,c.1558G>T,MODERATE,,tolerated(0.06),probably_damaging(0.934),1;ABCB5,missense_variant,p.A132S,ENST00000441315,,c.394G>T,MODERATE,,deleterious(0.02),benign(0.239),1","Allele":"T","Gene":"ENSG00000004846","Feature":"ENST00000404938","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"3545/5811","CDS_position":"2893/3774","Protein_position":"965/1257","Amino_acids":"A/S","Codons":"Gct/Tct","Existing_variation":"COSV51709780","TRANSCRIPT_STRAND":1,"SYMBOL":"ABCB5","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:46","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS55090.1","ENSP":"ENSP00000384881","SWISSPROT":"Q2M3G0.132","UNIPARC":"UPI000173A253","UNIPROT_ISOFORM":"Q2M3G0-4","RefSeq":"NM_001163941.2","APPRIS":"P1","SIFT":"deleterious(0.04)","PolyPhen":"possibly_damaging(0.787)","EXON":"24/28","DOMAINS":"Pfam:PF00664;PROSITE_profiles:PS50929;PANTHER:PTHR24221;PANTHER:PTHR24221:SF217;Superfamily:SSF90123;Transmembrane_helices:TMhelix;CDD:cd18578","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","CONTEXT":"ATGGAGCTATG","tumor_bam_uuid":"71c24b0d-285d-4697-a323-7f1bff3c7e81","normal_bam_uuid":"75b2bde7-1cf9-41ce-a33f-a8cbd0e254b2","case_id":"a250a369-e536-4a18-b7af-2911133d7bdc","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"381","Hugo_Symbol":"DHX35","Entrez_Gene_Id":60625,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr20","Start_Position":39001738,"End_Position":39001738,"Strand":"+","Variant_Classification":"Silent","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"T","Tumor_Sample_Barcode":"TCGA-49-AARO-01A-12D-A410-08","Matched_Norm_Sample_Barcode":"TCGA-49-AARO-11A-11D-A413-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"c091727f-e245-4d6f-9556-359c854fd0cf","Matched_Norm_Sample_UUID":"679ce3c9-707f-4028-b02c-c5bca01884e7","HGVSc":"c.651G>T","HGVSp":"p.Arg217=","HGVSp_Short":"p.R217=","Transcript_ID":"ENST00000252011","Exon_Number":"9/22","t_depth":83,"t_ref_count":72,"t_alt_count":11,"n_depth":88,"all_effects":"DHX35,synonymous_variant,p.R217=,ENST00000252011,NM_021931.4,c.651G>T,LOW,YES,,,1;DHX35,synonymous_variant,p.R217=,ENST00000373325,,c.651G>T,LOW,,,,1;DHX35,synonymous_variant,p.R186=,ENST00000373323,NM_001190809.2,c.558G>T,LOW,,,,1;DHX35,3_prime_UTR_variant,,ENST00000652169,,c.*290G>T,MODIFIER,,,,1;DHX35,3_prime_UTR_variant,,ENST00000484417,,c.*290G>T,MODIFIER,,,,1","Allele":"T","Gene":"ENSG00000101452","Feature":"ENST00000252011","Feature_type":"Transcript","One_Consequence":"synonymous_variant","Consequence":"synonymous_variant","cDNA_position":"675/3314","CDS_position":"651/2112","Protein_position":"217/703","Amino_acids":"R","Codons":"cgG/cgT","Existing_variation":"COSV99326390","TRANSCRIPT_STRAND":1,"SYMBOL":"DHX35","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:15861","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS13310.1","ENSP":"ENSP00000252011","SWISSPROT":"Q9H5Z1.168","UNIPARC":"UPI0000129088","UNIPROT_ISOFORM":"Q9H5Z1-1","RefSeq":"NM_021931.4","MANE":"NM_021931.4","APPRIS":"P1","EXON":"9/22","DOMAINS":"PROSITE_profiles:PS51192;CDD:cd17980;PANTHER:PTHR18934:SF136;PANTHER:PTHR18934;Gene3D:3.40.50.300;SMART:SM00487;Superfamily:SSF52540","SOMATIC":"1","IMPACT":"LOW","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","CONTEXT":"TTCCGGGATTT","tumor_bam_uuid":"9f006b16-1c84-465b-8b21-abcdd0b6fdd3","normal_bam_uuid":"42fb0fa1-98f5-47bb-8b9f-1686122f37e7","case_id":"5202458b-c38a-47c0-a0ba-5f1a59a762a0","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2"}
{"X1":"215","Hugo_Symbol":"VDAC3","Entrez_Gene_Id":7419,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr8","Start_Position":42401902,"End_Position":42401902,"Strand":"+","Variant_Classification":"Silent","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"T","dbSNP_RS":"rs771711393","Tumor_Sample_Barcode":"TCGA-67-3771-01A-01W-0928-08","Matched_Norm_Sample_Barcode":"TCGA-67-3771-10A-01D-1040-01","Mutation_Status":"Somatic","Tumor_Sample_UUID":"b850bfc1-7926-4bee-a0c4-e6e964765a6b","Matched_Norm_Sample_UUID":"24f1a1ea-733d-45b3-a51b-073807143f78","HGVSc":"c.438C>T","HGVSp":"p.Phe146=","HGVSp_Short":"p.F146=","Transcript_ID":"ENST00000022615","Exon_Number":"7/10","t_depth":106,"t_ref_count":91,"t_alt_count":14,"n_depth":203,"all_effects":"VDAC3,synonymous_variant,p.F146=,ENST00000022615,NM_005662.7,c.438C>T,LOW,,,,1;VDAC3,synonymous_variant,p.F147=,ENST00000521158,NM_001135694.2,c.441C>T,LOW,YES,,,1;VDAC3,synonymous_variant,p.F146=,ENST00000522069,,c.438C>T,LOW,,,,1;VDAC3,synonymous_variant,p.F146=,ENST00000520115,,c.438C>T,LOW,,,,1;VDAC3,intron_variant,,ENST00000522572,,c.375+66C>T,MODIFIER,,,,1;VDAC3,downstream_gene_variant,,ENST00000518563,,,MODIFIER,,,,1;VDAC3,3_prime_UTR_variant,,ENST00000522010,,c.*82C>T,MODIFIER,,,,1;VDAC3,non_coding_transcript_exon_variant,,ENST00000521348,,n.522C>T,MODIFIER,,,,1;VDAC3,non_coding_transcript_exon_variant,,ENST00000522178,,n.269C>T,MODIFIER,,,,1;VDAC3,downstream_gene_variant,,ENST00000518495,,,MODIFIER,,,,1;VDAC3,downstream_gene_variant,,ENST00000519072,,,MODIFIER,,,,1;VDAC3,upstream_gene_variant,,ENST00000524291,,,MODIFIER,,,,1","Allele":"T","Gene":"ENSG00000078668","Feature":"ENST00000022615","Feature_type":"Transcript","One_Consequence":"synonymous_variant","Consequence":"synonymous_variant","cDNA_position":"529/1418","CDS_position":"438/852","Protein_position":"146/283","Amino_acids":"F","Codons":"ttC/ttT","Existing_variation":"rs771711393;COSV50081317","TRANSCRIPT_STRAND":1,"SYMBOL":"VDAC3","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:12674","BIOTYPE":"protein_coding","CCDS":"CCDS6131.1","ENSP":"ENSP00000022615","SWISSPROT":"Q9Y277.179","UNIPARC":"UPI0000131F50","UNIPROT_ISOFORM":"Q9Y277-1","RefSeq":"NM_005662.7","MANE":"NM_005662.7","APPRIS":"P3","EXON":"7/10","DOMAINS":"Gene3D:2.40.160.10;Pfam:PF01459;PANTHER:PTHR11743;PANTHER:PTHR11743:SF28;CDD:cd07306","gnomAD_AF":"4.374e-05","gnomAD_AFR_AF":"0","gnomAD_AMR_AF":"5.782e-05","gnomAD_ASJ_AF":"0","gnomAD_EAS_AF":"0","gnomAD_FIN_AF":"4.619e-05","gnomAD_NFE_AF":"7.032e-05","gnomAD_OTH_AF":"0","gnomAD_SAS_AF":"0","MAX_AF":"7.032e-05","MAX_AF_POPS":"gnomAD_NFE","gnomAD_non_cancer_AF":"6.76004992783419e-06","gnomAD_non_cancer_AFR_AF":"0","gnomAD_non_cancer_AMI_AF":"0","gnomAD_non_cancer_AMR_AF":"0","gnomAD_non_cancer_ASJ_AF":"0","gnomAD_non_cancer_EAS_AF":"0","gnomAD_non_cancer_FIN_AF":"0","gnomAD_non_cancer_MID_AF":"0","gnomAD_non_cancer_NFE_AF":"1.54301997099537e-05","gnomAD_non_cancer_OTH_AF":"0","gnomAD_non_cancer_SAS_AF":"0","SOMATIC":"0;1","IMPACT":"LOW","VARIANT_CLASS":"SNV","TSL":1,"PHENO":"0;1","CONTEXT":"GCCTTCGAAGG","tumor_bam_uuid":"02908bcd-ff6b-4611-a8b7-b1f7c18073a1","normal_bam_uuid":"930b209a-4ff6-4e76-a78d-fcba988e7330","case_id":"0df573ee-28f0-4244-b434-09e6ca59fbf0","COSMIC":"COSM605650","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"296","Hugo_Symbol":"UNC45B","Entrez_Gene_Id":146862,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr17","Start_Position":35174334,"End_Position":35174334,"Strand":"+","Variant_Classification":"Silent","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-75-6214-01A-41D-1945-08","Matched_Norm_Sample_Barcode":"TCGA-75-6214-10A-01D-1946-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"386c643d-476f-4d19-ab4b-2f33371f90ec","Matched_Norm_Sample_UUID":"945fa648-2f7f-4447-83cb-18b2d40dbe3f","HGVSc":"c.1929C>A","HGVSp":"p.Ala643=","HGVSp_Short":"p.A643=","Transcript_ID":"ENST00000268876","Exon_Number":"14/20","t_depth":150,"t_ref_count":102,"t_alt_count":48,"n_depth":94,"all_effects":"UNC45B,synonymous_variant,p.A643=,ENST00000268876,NM_173167.3,c.1929C>A,LOW,YES,,,1;UNC45B,synonymous_variant,p.A641=,ENST00000394570,NM_001033576.2&NM_001267052.2,c.1923C>A,LOW,,,,1;UNC45B,synonymous_variant,p.A562=,ENST00000591048,NM_001308281.1,c.1686C>A,LOW,,,,1","Allele":"A","Gene":"ENSG00000141161","Feature":"ENST00000268876","Feature_type":"Transcript","One_Consequence":"synonymous_variant","Consequence":"synonymous_variant","cDNA_position":"2026/5679","CDS_position":"1929/2796","Protein_position":"643/931","Amino_acids":"A","Codons":"gcC/gcA","Existing_variation":"COSV52096940","TRANSCRIPT_STRAND":1,"SYMBOL":"UNC45B","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:14304","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS11292.1","ENSP":"ENSP00000268876","SWISSPROT":"Q8IWX7.148","UNIPARC":"UPI0000074455","UNIPROT_ISOFORM":"Q8IWX7-1","RefSeq":"NM_173167.3","APPRIS":"A1","EXON":"14/20","DOMAINS":"Gene3D:1.25.10.10;PANTHER:PTHR45994;PANTHER:PTHR45994:SF2;Superfamily:SSF48371","SOMATIC":"1","IMPACT":"LOW","PICK":1,"VARIANT_CLASS":"SNV","TSL":5,"PHENO":"1","GENE_PHENO":"1","CONTEXT":"AGTGCCATCCT","tumor_bam_uuid":"55381b30-133e-4777-a80b-e1acdc71558d","normal_bam_uuid":"82cac576-d1c9-418a-a614-674fcf6696cd","case_id":"32592562-11fa-435a-b40b-2b242bae53aa","COSMIC":"COSM6146147","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"179","Hugo_Symbol":"STRIP1","Entrez_Gene_Id":85369,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr1","Start_Position":110051847,"End_Position":110051847,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"C","Tumor_Sample_Barcode":"TCGA-86-8073-01A-11D-2238-08","Matched_Norm_Sample_Barcode":"TCGA-86-8073-10A-01D-2238-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"b7268ee3-2840-467c-9e11-8e269ccc60a8","Matched_Norm_Sample_UUID":"653e6401-123b-4136-b07b-26c50359235e","HGVSc":"c.2226G>C","HGVSp":"p.Lys742Asn","HGVSp_Short":"p.K742N","Transcript_ID":"ENST00000369795","Exon_Number":"20/21","t_depth":138,"t_ref_count":118,"t_alt_count":20,"n_depth":115,"all_effects":"STRIP1,missense_variant,p.K742N,ENST00000369795,NM_033088.4,c.2226G>C,MODERATE,YES,deleterious(0.05),benign(0.292),1;STRIP1,missense_variant,p.K647N,ENST00000369796,NM_001270768.1,c.1941G>C,MODERATE,,deleterious(0.01),benign(0.292),1;STRIP1,3_prime_UTR_variant,,ENST00000485775,,c.*1701G>C,MODIFIER,,,,1;STRIP1,non_coding_transcript_exon_variant,,ENST00000473429,,n.3035G>C,MODIFIER,,,,1;STRIP1,downstream_gene_variant,,ENST00000461054,,,MODIFIER,,,,1","Allele":"C","Gene":"ENSG00000143093","Feature":"ENST00000369795","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"2240/3257","CDS_position":"2226/2514","Protein_position":"742/837","Amino_acids":"K/N","Codons":"aaG/aaC","Existing_variation":"COSV100874050","TRANSCRIPT_STRAND":1,"SYMBOL":"STRIP1","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:25916","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS30798.1","ENSP":"ENSP00000358810","SWISSPROT":"Q5VSL9.132","UNIPARC":"UPI0000160E65","UNIPROT_ISOFORM":"Q5VSL9-1","RefSeq":"NM_033088.4","MANE":"NM_033088.4","APPRIS":"P1","SIFT":"deleterious(0.05)","PolyPhen":"benign(0.292)","EXON":"20/21","DOMAINS":"PANTHER:PTHR13239;PANTHER:PTHR13239:SF7;Pfam:PF11882;SMART:SM01293","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","CONTEXT":"CAGAAGGTGCG","tumor_bam_uuid":"f9aa0e56-bd51-42c1-8e42-ca452b9748ff","normal_bam_uuid":"035edb39-aa44-4b26-b409-3558f2903753","case_id":"cd902d08-215e-4bd0-88e4-4fd01ab43cbf","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"344","Hugo_Symbol":"RBBP6","Entrez_Gene_Id":5930,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr16","Start_Position":24567185,"End_Position":24567185,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"C","Tumor_Sample_Barcode":"TCGA-44-2656-01A-12D-A27T-08","Matched_Norm_Sample_Barcode":"TCGA-44-2656-10A-01D-0969-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"e368fa33-7cd5-4038-a787-6bc82378a386","Matched_Norm_Sample_UUID":"03b8420d-480f-48e1-88a7-8ee9917049a6","HGVSc":"c.1632G>C","HGVSp":"p.Arg544Ser","HGVSp_Short":"p.R544S","Transcript_ID":"ENST00000319715","Exon_Number":"15/18","t_depth":114,"t_ref_count":93,"t_alt_count":21,"n_depth":185,"all_effects":"RBBP6,missense_variant,p.R544S,ENST00000319715,NM_006910.5,c.1632G>C,MODERATE,YES,deleterious_low_confidence(0.04),probably_damaging(0.987),1;RBBP6,missense_variant,p.R544S,ENST00000348022,NM_018703.4,c.1632G>C,MODERATE,,tolerated_low_confidence(0.05),probably_damaging(0.994),1;RBBP6,missense_variant,p.R582S,ENST00000646282,,c.1746G>C,MODERATE,,deleterious_low_confidence(0.04),probably_damaging(0.989),1;RBBP6,missense_variant,p.R411S,ENST00000564314,,c.1233G>C,MODERATE,,tolerated_low_confidence(0.06),probably_damaging(0.987),1;RBBP6,intron_variant,,ENST00000381039,,c.1290-3691G>C,MODIFIER,,,,1;RBBP6,non_coding_transcript_exon_variant,,ENST00000562430,,n.2422G>C,MODIFIER,,,,1;RBBP6,non_coding_transcript_exon_variant,,ENST00000570185,,n.320G>C,MODIFIER,,,,1","Allele":"C","Gene":"ENSG00000122257","Feature":"ENST00000319715","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"2693/6858","CDS_position":"1632/5379","Protein_position":"544/1792","Amino_acids":"R/S","Codons":"agG/agC","Existing_variation":"COSV60503656","TRANSCRIPT_STRAND":1,"SYMBOL":"RBBP6","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:9889","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS10621.1","ENSP":"ENSP00000317872","SWISSPROT":"Q7Z6E9.165","UNIPARC":"UPI00001A96B8","UNIPROT_ISOFORM":"Q7Z6E9-1","RefSeq":"NM_006910.5","MANE":"NM_006910.5","APPRIS":"P4","SIFT":"deleterious_low_confidence(0.04)","PolyPhen":"probably_damaging(0.987)","EXON":"15/18","DOMAINS":"PANTHER:PTHR15439;PANTHER:PTHR15439:SF0;MobiDB_lite:mobidb-lite","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","CONTEXT":"CAGAGGACTCA","tumor_bam_uuid":"4dba7a4d-7c8b-4072-ab26-5bb93c0335be","normal_bam_uuid":"ada4ffdf-3ba5-4ad0-8eb4-634d04b2b9b8","case_id":"42ca54fc-c1ae-41cd-bca1-7fe9810db460","COSMIC":"COSM6078773","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"397","Hugo_Symbol":"NOTCH2","Entrez_Gene_Id":4853,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr1","Start_Position":119925799,"End_Position":119925799,"Strand":"+","Variant_Classification":"Silent","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-49-AAR3-01A-11D-A410-08","Matched_Norm_Sample_Barcode":"TCGA-49-AAR3-11A-11D-A413-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"cb648b2b-8761-453d-923d-4ecd06d94da8","Matched_Norm_Sample_UUID":"33f4837c-dd56-4cae-b84b-285db9252137","HGVSc":"c.4017G>T","HGVSp":"p.Gly1339=","HGVSp_Short":"p.G1339=","Transcript_ID":"ENST00000256646","Exon_Number":"25/34","t_depth":32,"t_ref_count":28,"t_alt_count":4,"n_depth":50,"all_effects":"NOTCH2,synonymous_variant,p.G1339=,ENST00000256646,NM_024408.4&NM_001200001.1,c.4017G>T,LOW,YES,,,-1;NOTCH2,upstream_gene_variant,,ENST00000493703,,,MODIFIER,,,,-1","Allele":"A","Gene":"ENSG00000134250","Feature":"ENST00000256646","Feature_type":"Transcript","One_Consequence":"synonymous_variant","Consequence":"synonymous_variant","cDNA_position":"4273/11425","CDS_position":"4017/7416","Protein_position":"1339/2471","Amino_acids":"G","Codons":"ggG/ggT","Existing_variation":"COSV99865993","TRANSCRIPT_STRAND":-1,"SYMBOL":"NOTCH2","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:7882","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS908.1","ENSP":"ENSP00000256646","SWISSPROT":"Q04721.230","UNIPARC":"UPI000013CF1D","RefSeq":"NM_024408.4;NM_001200001.1","MANE":"NM_024408.4","APPRIS":"P1","EXON":"25/34","DOMAINS":"CDD:cd00054;PIRSF:PIRSF002279;Pfam:PF00008;Gene3D:2.10.25.10;SMART:SM00179;SMART:SM00181;Superfamily:SSF57196;PROSITE_profiles:PS50026;PANTHER:PTHR24033;PANTHER:PTHR24033:SF157;PROSITE_patterns:PS00022","SOMATIC":"1","IMPACT":"LOW","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","GENE_PHENO":"1","CONTEXT":"CTTGCCCCGGA","tumor_bam_uuid":"73221569-65c4-4419-a7e5-f4d2316bae33","normal_bam_uuid":"b40b55bc-7a45-4ce5-b54b-69895f454a3e","case_id":"5813997a-d7dc-4f7c-8d4b-e979832168a9","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2"}
{"X1":"145","Hugo_Symbol":"KRT3","Entrez_Gene_Id":3850,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr12","Start_Position":52792321,"End_Position":52792321,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-93-8067-01C-01D-A38P-08","Matched_Norm_Sample_Barcode":"TCGA-93-8067-10A-01D-2284-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"35724fb9-0077-49df-8b40-1c7213169964","Matched_Norm_Sample_UUID":"d7d83255-5abb-4081-b6f9-521a376a2f76","HGVSc":"c.1106G>T","HGVSp":"p.Ser369Ile","HGVSp_Short":"p.S369I","Transcript_ID":"ENST00000417996","Exon_Number":"5/9","t_depth":30,"t_ref_count":20,"t_alt_count":10,"n_depth":33,"all_effects":"KRT3,missense_variant,p.S369I,ENST00000417996,NM_057088.3,c.1106G>T,MODERATE,YES,deleterious(0),probably_damaging(0.979),-1","Allele":"A","Gene":"ENSG00000186442","Feature":"ENST00000417996","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"1181/2319","CDS_position":"1106/1887","Protein_position":"369/628","Amino_acids":"S/I","Codons":"aGc/aTc","Existing_variation":"COSV100527114","TRANSCRIPT_STRAND":-1,"SYMBOL":"KRT3","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:6440","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS44895.1","ENSP":"ENSP00000413479","SWISSPROT":"P12035.188","UNIPARC":"UPI000013EEC8","RefSeq":"NM_057088.3","MANE":"NM_057088.3","APPRIS":"P1","SIFT":"deleterious(0)","PolyPhen":"probably_damaging(0.979)","EXON":"5/9","DOMAINS":"PROSITE_profiles:PS51842;PANTHER:PTHR45616;PANTHER:PTHR45616:SF38;Gene3D:1.20.5.500;Pfam:PF00038;SMART:SM01391","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","GENE_PHENO":"1","CONTEXT":"TGATGCTGTCC","tumor_bam_uuid":"240b9530-ace1-4922-b4a6-296f95bea939","normal_bam_uuid":"ed182f6d-3d46-4be9-bd94-35a2cf299dae","case_id":"bbe88801-34f3-46d2-bbfd-b46c3901ed71","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"302","Hugo_Symbol":"KNTC1","Entrez_Gene_Id":9735,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr12","Start_Position":122620543,"End_Position":122620543,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"T","dbSNP_RS":"rs377336279","Tumor_Sample_Barcode":"TCGA-05-4382-01A-01D-1931-08","Matched_Norm_Sample_Barcode":"TCGA-05-4382-10A-01D-1265-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"43b8f335-bb32-45de-985a-85508048b237","Matched_Norm_Sample_UUID":"20e316a4-d1e4-44d2-881c-527e600203f0","HGVSc":"c.6214C>T","HGVSp":"p.Pro2072Ser","HGVSp_Short":"p.P2072S","Transcript_ID":"ENST00000333479","Exon_Number":"60/64","t_depth":55,"t_ref_count":45,"t_alt_count":9,"n_depth":32,"all_effects":"KNTC1,missense_variant,p.P2072S,ENST00000333479,NM_014708.6,c.6214C>T,MODERATE,YES,tolerated(0.08),probably_damaging(0.998),1;KNTC1,missense_variant,p.P997S,ENST00000450485,,c.2989C>T,MODERATE,,tolerated(0.24),probably_damaging(0.989),1;KNTC1,5_prime_UTR_variant,,ENST00000436959,,c.-24C>T,MODIFIER,,,,1;KNTC1,5_prime_UTR_variant,,ENST00000534995,,c.-24C>T,MODIFIER,,,,1;KNTC1,downstream_gene_variant,,ENST00000546125,,,MODIFIER,,,,1;KNTC1,downstream_gene_variant,,ENST00000539013,,,MODIFIER,,,,1;KNTC1,downstream_gene_variant,,ENST00000541427,,,MODIFIER,,,,1","Allele":"T","Gene":"ENSG00000184445","Feature":"ENST00000333479","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"6390/6974","CDS_position":"6214/6630","Protein_position":"2072/2209","Amino_acids":"P/S","Codons":"Ccg/Tcg","Existing_variation":"rs377336279","TRANSCRIPT_STRAND":1,"SYMBOL":"KNTC1","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:17255","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS45002.1","ENSP":"ENSP00000328236","SWISSPROT":"P50748.163","UNIPARC":"UPI0000047FD6","UNIPROT_ISOFORM":"P50748-1","RefSeq":"NM_014708.6","MANE":"NM_014708.6","APPRIS":"P1","SIFT":"tolerated(0.08)","PolyPhen":"probably_damaging(0.998)","EXON":"60/64","DOMAINS":"PANTHER:PTHR15688;Pfam:PF10493","ESP_AA_AF":"0","ESP_EA_AF":"0.0001196","gnomAD_AF":"1.206e-05","gnomAD_AFR_AF":"0","gnomAD_AMR_AF":"0","gnomAD_ASJ_AF":"0","gnomAD_EAS_AF":"0","gnomAD_FIN_AF":"0","gnomAD_NFE_AF":"2.66e-05","gnomAD_OTH_AF":"0","gnomAD_SAS_AF":"0","MAX_AF":"0.0001196","MAX_AF_POPS":"EA","gnomAD_non_cancer_AF":"6.76186982673244e-06","gnomAD_non_cancer_AFR_AF":"0","gnomAD_non_cancer_AMI_AF":"0","gnomAD_non_cancer_AMR_AF":"0","gnomAD_non_cancer_ASJ_AF":"0","gnomAD_non_cancer_EAS_AF":"0","gnomAD_non_cancer_FIN_AF":"0","gnomAD_non_cancer_MID_AF":"0","gnomAD_non_cancer_NFE_AF":"1.54311001097085e-05","gnomAD_non_cancer_OTH_AF":"0","gnomAD_non_cancer_SAS_AF":"0","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"CONTEXT":"AACTTCCGGCT","tumor_bam_uuid":"060c15c0-25ca-4464-8aa3-364396b9b34c","normal_bam_uuid":"f0be1c9e-728c-4655-b792-96bfe1cd5344","case_id":"3434b91a-c05f-460f-a078-7b1bb6e7085d","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"238","Hugo_Symbol":"DZIP3","Entrez_Gene_Id":9666,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr3","Start_Position":108684232,"End_Position":108684232,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"T","Tumor_Sample_Barcode":"TCGA-78-8640-01A-11D-2393-08","Matched_Norm_Sample_Barcode":"TCGA-78-8640-11A-01D-2393-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"c50986c8-b096-4ca6-9afe-ad02977329cb","Matched_Norm_Sample_UUID":"dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11","HGVSc":"c.2900G>T","HGVSp":"p.Gly967Val","HGVSp_Short":"p.G967V","Transcript_ID":"ENST00000361582","Exon_Number":"27/33","t_depth":232,"t_ref_count":207,"t_alt_count":25,"n_depth":285,"all_effects":"DZIP3,missense_variant,p.G967V,ENST00000361582,NM_014648.4,c.2900G>T,MODERATE,YES,deleterious(0.04),probably_damaging(0.994),1;DZIP3,missense_variant,p.G967V,ENST00000463306,,c.2900G>T,MODERATE,,deleterious(0.04),probably_damaging(0.994),1;DZIP3,3_prime_UTR_variant,,ENST00000495008,,c.*2779G>T,MODIFIER,,,,1","Allele":"T","Gene":"ENSG00000198919","Feature":"ENST00000361582","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"3090/5304","CDS_position":"2900/3627","Protein_position":"967/1208","Amino_acids":"G/V","Codons":"gGa/gTa","Existing_variation":"COSV100847697","TRANSCRIPT_STRAND":1,"SYMBOL":"DZIP3","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:30938","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS2952.1","ENSP":"ENSP00000355028","SWISSPROT":"Q86Y13.150","UNIPARC":"UPI000006E7D4","UNIPROT_ISOFORM":"Q86Y13-1","RefSeq":"NM_014648.4","MANE":"NM_014648.4","APPRIS":"P1","SIFT":"deleterious(0.04)","PolyPhen":"probably_damaging(0.994)","EXON":"27/33","DOMAINS":"PANTHER:PTHR15727;PANTHER:PTHR15727:SF4","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","CONTEXT":"CTTAGGAAGAC","tumor_bam_uuid":"a4437afd-b85a-4e7c-8a73-e91011ebf31c","normal_bam_uuid":"f0290fd0-31e2-49b3-8cec-7eb7b425f0c7","case_id":"18478121-f1d1-4bdd-9511-8ab22f4a0660","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"181","Hugo_Symbol":"PCDH17","Entrez_Gene_Id":27253,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr13","Start_Position":57633479,"End_Position":57633479,"Strand":"+","Variant_Classification":"Silent","Variant_Type":"SNP","Reference_Allele":"T","Tumor_Seq_Allele1":"T","Tumor_Seq_Allele2":"C","Tumor_Sample_Barcode":"TCGA-05-4403-01A-01D-1265-08","Matched_Norm_Sample_Barcode":"TCGA-05-4403-10A-01D-1265-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f","Matched_Norm_Sample_UUID":"a17b5d32-f570-4d2d-9e97-f8b01de1be9f","HGVSc":"c.933T>C","HGVSp":"p.Tyr311=","HGVSp_Short":"p.Y311=","Transcript_ID":"ENST00000377918","Exon_Number":"1/4","t_depth":89,"t_ref_count":71,"t_alt_count":18,"n_depth":56,"all_effects":"PCDH17,synonymous_variant,p.Y311=,ENST00000377918,NM_001040429.3,c.933T>C,LOW,YES,,,1;PCDH17,upstream_gene_variant,,ENST00000612954,,,MODIFIER,,,,1;PCDH17,upstream_gene_variant,,ENST00000615375,,,MODIFIER,,,,1;PCDH17,synonymous_variant,p.Y311=,ENST00000484979,,c.933T>C,LOW,,,,1;AL445288.1,non_coding_transcript_exon_variant,,ENST00000610846,,n.97A>G,MODIFIER,YES,,,-1","Allele":"C","Gene":"ENSG00000118946","Feature":"ENST00000377918","Feature_type":"Transcript","One_Consequence":"synonymous_variant","Consequence":"synonymous_variant","cDNA_position":"1736/8300","CDS_position":"933/3480","Protein_position":"311/1159","Amino_acids":"Y","Codons":"taT/taC","Existing_variation":"COSV64980596","TRANSCRIPT_STRAND":1,"SYMBOL":"PCDH17","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:14267","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS31986.1","ENSP":"ENSP00000367151","SWISSPROT":"O14917.165","UNIPARC":"UPI00001FCE5B","UNIPROT_ISOFORM":"O14917-1","RefSeq":"NM_001040429.3","MANE":"NM_001040429.3","APPRIS":"P1","EXON":"1/4","DOMAINS":"Gene3D:2.60.40.60;PDB-ENSP_mappings:6vft.A;PDB-ENSP_mappings:6vft.B;PDB-ENSP_mappings:6vft.C;PDB-ENSP_mappings:6vft.D;Pfam:PF00028;PROSITE_profiles:PS50268;PANTHER:PTHR24028;PANTHER:PTHR24028:SF41;SMART:SM00112;Superfamily:SSF49313;CDD:cd11304","SOMATIC":"1","IMPACT":"LOW","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","CONTEXT":"GACTATGAGGA","tumor_bam_uuid":"b9f53be3-dd39-425a-bc30-b9175c3ba470","normal_bam_uuid":"735d5588-a4b3-432f-a7cd-ea3da470a9cb","case_id":"ce15f31f-2bad-4485-96fa-495bfa262e66","COSMIC":"COSM6075150","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"383","Hugo_Symbol":"TTN","Entrez_Gene_Id":7273,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr2","Start_Position":178776662,"End_Position":178776662,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-NJ-A4YQ-01A-11D-A25L-08","Matched_Norm_Sample_Barcode":"TCGA-NJ-A4YQ-10A-01D-A25L-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"030aefdc-9ee8-4740-85ed-8c380265437a","Matched_Norm_Sample_UUID":"986b23fa-8ddd-45da-a28b-97c5ea6f69cd","HGVSc":"c.5202G>T","HGVSp":"p.Met1734Ile","HGVSp_Short":"p.M1734I","Transcript_ID":"ENST00000591111","Exon_Number":"28/313","t_depth":78,"t_ref_count":70,"t_alt_count":8,"n_depth":88,"all_effects":"TTN,missense_variant,p.M1734I,ENST00000589042,NM_001267550.2,c.5202G>T,MODERATE,YES,,probably_damaging(0.961),-1;TTN,missense_variant,p.M1734I,ENST00000591111,,c.5202G>T,MODERATE,,,probably_damaging(0.961),-1;TTN,missense_variant,p.M1734I,ENST00000342992,NM_133378.4&NM_001256850.1,c.5202G>T,MODERATE,,,probably_damaging(0.977),-1;TTN,missense_variant,p.M1688I,ENST00000460472,NM_003319.4,c.5064G>T,MODERATE,,,probably_damaging(0.977),-1;TTN,missense_variant,p.M1688I,ENST00000342175,NM_133437.4,c.5064G>T,MODERATE,,,,-1;TTN,missense_variant,p.M1688I,ENST00000359218,NM_133432.3,c.5064G>T,MODERATE,,,probably_damaging(0.977),-1;TTN,missense_variant,p.M1734I,ENST00000360870,NM_133379.5,c.5202G>T,MODERATE,,deleterious(0.04),probably_damaging(0.991),-1;TTN-AS1,non_coding_transcript_exon_variant,,ENST00000659121,,n.4089C>A,MODIFIER,YES,,,1;TTN-AS1,intron_variant,,ENST00000590773,,n.2258-2050C>A,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000629094,,n.289-1196C>A,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000657023,,n.1484-1196C>A,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000663178,,n.854+2147C>A,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000664776,,n.1274-1196C>A,MODIFIER,,,,1;TTN-AS1,upstream_gene_variant,,ENST00000582038,,,MODIFIER,,,,1;TTN-AS1,downstream_gene_variant,,ENST00000584485,,,MODIFIER,,,,1;TTN-AS1,downstream_gene_variant,,ENST00000585451,,,MODIFIER,,,,1;TTN-AS1,downstream_gene_variant,,ENST00000610005,,,MODIFIER,,,,1;TTN-AS1,downstream_gene_variant,,ENST00000653807,,,MODIFIER,,,,1;TTN-AS1,downstream_gene_variant,,ENST00000657818,,,MODIFIER,,,,1","Allele":"A","Gene":"ENSG00000155657","Feature":"ENST00000591111","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"5427/104301","CDS_position":"5202/103053","Protein_position":"1734/34350","Amino_acids":"M/I","Codons":"atG/atT","Existing_variation":"COSV60360574","TRANSCRIPT_STRAND":-1,"SYMBOL":"TTN","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:12403","BIOTYPE":"protein_coding","ENSP":"ENSP00000465570","SWISSPROT":"Q8WZ42.192","UNIPARC":"UPI00025287CD","UNIPROT_ISOFORM":"Q8WZ42-1","PolyPhen":"probably_damaging(0.961)","EXON":"28/313","DOMAINS":"Gene3D:2.60.40.10;Pfam:PF07679;PROSITE_profiles:PS50835;PANTHER:PTHR13817;PANTHER:PTHR13817:SF10;SMART:SM00409;Superfamily:SSF48726;CDD:cd00096","SOMATIC":"1","IMPACT":"MODERATE","VARIANT_CLASS":"SNV","TSL":5,"PHENO":"1","GENE_PHENO":"1","CONTEXT":"ACCACCATCGT","tumor_bam_uuid":"f92c7033-1999-429c-9146-7cc868bd90de","normal_bam_uuid":"47a1ed88-3bfe-497e-aa70-9893b5c1275a","case_id":"52df074f-a402-4b78-9472-f8eb268efded","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2"}
{"X1":"383","Hugo_Symbol":"ADGRA3","Entrez_Gene_Id":166647,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr4","Start_Position":22421003,"End_Position":22421003,"Strand":"+","Variant_Classification":"Silent","Variant_Type":"SNP","Reference_Allele":"T","Tumor_Seq_Allele1":"T","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-NJ-A4YQ-01A-11D-A25L-08","Matched_Norm_Sample_Barcode":"TCGA-NJ-A4YQ-10A-01D-A25L-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"030aefdc-9ee8-4740-85ed-8c380265437a","Matched_Norm_Sample_UUID":"986b23fa-8ddd-45da-a28b-97c5ea6f69cd","HGVSc":"c.1692A>T","HGVSp":"p.Ala564=","HGVSp_Short":"p.A564=","Transcript_ID":"ENST00000334304","Exon_Number":"12/19","t_depth":280,"t_ref_count":252,"t_alt_count":28,"n_depth":244,"all_effects":"ADGRA3,synonymous_variant,p.A564=,ENST00000334304,NM_145290.4,c.1692A>T,LOW,YES,,,-1;ADGRA3,synonymous_variant,p.A564=,ENST00000502482,,c.1692A>T,LOW,,,,-1;ADGRA3,synonymous_variant,p.A338=,ENST00000508133,,c.1014A>T,LOW,,,,-1;ADGRA3,non_coding_transcript_exon_variant,,ENST00000282943,,n.1317A>T,MODIFIER,,,,-1","Allele":"A","Gene":"ENSG00000152990","Feature":"ENST00000334304","Feature_type":"Transcript","One_Consequence":"synonymous_variant","Consequence":"synonymous_variant","cDNA_position":"1974/4577","CDS_position":"1692/3966","Protein_position":"564/1321","Amino_acids":"A","Codons":"gcA/gcT","Existing_variation":"COSV99293161","TRANSCRIPT_STRAND":-1,"SYMBOL":"ADGRA3","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:13839","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS33964.1","ENSP":"ENSP00000334952","SWISSPROT":"Q8IWK6.160","UNIPARC":"UPI00001D7735","UNIPROT_ISOFORM":"Q8IWK6-1","RefSeq":"NM_145290.4","MANE":"NM_145290.4","APPRIS":"P1","EXON":"12/19","DOMAINS":"PANTHER:PTHR45930;PANTHER:PTHR45930:SF2","SOMATIC":"1","IMPACT":"LOW","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","CONTEXT":"GAGGCTGCCAC","tumor_bam_uuid":"f92c7033-1999-429c-9146-7cc868bd90de","normal_bam_uuid":"47a1ed88-3bfe-497e-aa70-9893b5c1275a","case_id":"52df074f-a402-4b78-9472-f8eb268efded","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2"}
{"X1":"26","Hugo_Symbol":"CPA6","Entrez_Gene_Id":57094,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr8","Start_Position":67511625,"End_Position":67511625,"Strand":"+","Variant_Classification":"Silent","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-50-7109-01A-11D-2036-08","Matched_Norm_Sample_Barcode":"TCGA-50-7109-11A-01D-2036-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"5efb21c5-9c0b-4442-b0cb-3c30b0869dba","Matched_Norm_Sample_UUID":"49a93a1d-94d7-47f8-8e42-1585bde5d3ac","HGVSc":"c.348G>T","HGVSp":"p.Leu116=","HGVSp_Short":"p.L116=","Transcript_ID":"ENST00000297770","Exon_Number":"4/11","t_depth":280,"t_ref_count":251,"t_alt_count":29,"n_depth":155,"all_effects":"CPA6,synonymous_variant,p.L116=,ENST00000297770,NM_020361.5,c.348G>T,LOW,YES,,,-1;CPA6,stop_gained,p.G75*,ENST00000638254,,c.223G>T,HIGH,,,,-1;CPA6,stop_gained,p.G75*,ENST00000479862,,c.223G>T,HIGH,,,,-1;CPA6,non_coding_transcript_exon_variant,,ENST00000518549,,n.562G>T,MODIFIER,,,,-1","Allele":"A","Gene":"ENSG00000165078","Feature":"ENST00000297770","Feature_type":"Transcript","One_Consequence":"synonymous_variant","Consequence":"synonymous_variant","cDNA_position":"579/2011","CDS_position":"348/1314","Protein_position":"116/437","Amino_acids":"L","Codons":"ctG/ctT","Existing_variation":"COSV52731718","TRANSCRIPT_STRAND":-1,"SYMBOL":"CPA6","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:17245","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS6200.1","ENSP":"ENSP00000297770","SWISSPROT":"Q8N4T0.163","UNIPARC":"UPI000003984E","UNIPROT_ISOFORM":"Q8N4T0-1","RefSeq":"NM_020361.5","MANE":"NM_020361.5","APPRIS":"P1","EXON":"4/11","DOMAINS":"Coiled-coils_(Ncoils):Coil;PANTHER:PTHR11705;PANTHER:PTHR11705:SF18;Pfam:PF02244;Gene3D:3.30.70.340;Superfamily:SSF54897","SOMATIC":"1","IMPACT":"LOW","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","GENE_PHENO":"1","CONTEXT":"TTCTCCAGTGT","tumor_bam_uuid":"80cbf01e-6cc5-481d-b9de-cfe336d34e87","normal_bam_uuid":"9d87f2f3-154a-4b40-8a75-2ed76e10286b","case_id":"7eb540b4-8dd3-4382-a488-e48b1c7213b3","COSMIC":"COSM6181113;COSM6181114","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"340","Hugo_Symbol":"CDK13","Entrez_Gene_Id":8621,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr7","Start_Position":39997572,"End_Position":39997572,"Strand":"+","Variant_Classification":"Silent","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"T","Tumor_Sample_Barcode":"TCGA-64-5781-01A-01D-1625-08","Matched_Norm_Sample_Barcode":"TCGA-64-5781-10A-01D-1625-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce","Matched_Norm_Sample_UUID":"3bd98c92-eaf2-4469-bc17-509bb7cd2197","HGVSc":"c.1950G>T","HGVSp":"p.Pro650=","HGVSp_Short":"p.P650=","Transcript_ID":"ENST00000181839","Exon_Number":"3/14","t_depth":150,"t_ref_count":98,"t_alt_count":51,"n_depth":116,"all_effects":"CDK13,synonymous_variant,p.P650=,ENST00000181839,NM_003718.5,c.1950G>T,LOW,YES,,,1;CDK13,synonymous_variant,p.P650=,ENST00000340829,NM_031267.3,c.1950G>T,LOW,,,,1;CDK13,synonymous_variant,p.P168=,ENST00000484589,,c.504G>T,LOW,,,,1;CDK13,synonymous_variant,p.P430=,ENST00000646039,,c.1290G>T,LOW,,,,1;CDK13,synonymous_variant,p.P281=,ENST00000643859,,c.843G>T,LOW,,,,1;CDK13,synonymous_variant,p.P88=,ENST00000643915,,c.264G>T,LOW,,,,1;CDK13,synonymous_variant,p.P36=,ENST00000613626,,c.108G>T,LOW,,,,1;CDK13,synonymous_variant,p.P36=,ENST00000611390,,c.108G>T,LOW,,,,1;CDK13,synonymous_variant,p.P247=,ENST00000642626,,c.741G>T,LOW,,,,1;CDK13,synonymous_variant,p.P190=,ENST00000646437,,c.570G>T,LOW,,,,1;CDK13,upstream_gene_variant,,ENST00000645470,,,MODIFIER,,,,1;CDK13,non_coding_transcript_exon_variant,,ENST00000647518,,n.3787G>T,MODIFIER,,,,1;CDK13,non_coding_transcript_exon_variant,,ENST00000642660,,n.739G>T,MODIFIER,,,,1;CDK13,upstream_gene_variant,,ENST00000642213,,,MODIFIER,,,,1;CDK13,upstream_gene_variant,,ENST00000647453,,,MODIFIER,,,,1","Allele":"T","Gene":"ENSG00000065883","Feature":"ENST00000181839","Feature_type":"Transcript","One_Consequence":"synonymous_variant","Consequence":"synonymous_variant","cDNA_position":"2336/9525","CDS_position":"1950/4539","Protein_position":"650/1512","Amino_acids":"P","Codons":"ccG/ccT","Existing_variation":"COSV51707072","TRANSCRIPT_STRAND":1,"SYMBOL":"CDK13","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:1733","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS5461.1","ENSP":"ENSP00000181839","SWISSPROT":"Q14004.197","TREMBL":"A0A024RA85.49","UNIPARC":"UPI000013C5E3","UNIPROT_ISOFORM":"Q14004-1","RefSeq":"NM_003718.5","MANE":"NM_003718.5","APPRIS":"P4","EXON":"3/14","DOMAINS":"PANTHER:PTHR24056;PANTHER:PTHR24056:SF383;Low_complexity_(Seg):seg","SOMATIC":"1","IMPACT":"LOW","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","GENE_PHENO":"1","CONTEXT":"TTACCGCTGCC","tumor_bam_uuid":"d7efa6c5-a0f2-4845-a009-5417944d76d5","normal_bam_uuid":"10e2e3c0-0507-45eb-84ed-dd1edd04ac50","case_id":"41c4c704-825e-49f5-9d54-dbd7d30725e0","COSMIC":"COSM6110291","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"148","Hugo_Symbol":"CCDC89","Entrez_Gene_Id":220388,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr11","Start_Position":85685193,"End_Position":85685193,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-55-7907-01A-11D-2167-08","Matched_Norm_Sample_Barcode":"TCGA-55-7907-10A-01D-2167-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"0dbafe19-dd11-4a91-b946-ebd346121b64","Matched_Norm_Sample_UUID":"643450d7-0116-4289-a05d-ab41e2d3f5fb","HGVSc":"c.938G>T","HGVSp":"p.Arg313Leu","HGVSp_Short":"p.R313L","Transcript_ID":"ENST00000316398","Exon_Number":"1/1","t_depth":58,"t_ref_count":37,"t_alt_count":21,"n_depth":58,"all_effects":"CCDC89,missense_variant,p.R313L,ENST00000316398,NM_152723.3,c.938G>T,MODERATE,YES,deleterious(0.02),probably_damaging(0.954),-1;CREBZF,upstream_gene_variant,,ENST00000534224,,,MODIFIER,,,,-1;CREBZF,upstream_gene_variant,,ENST00000531515,,,MODIFIER,,,,-1","Allele":"A","Gene":"ENSG00000179071","Feature":"ENST00000316398","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"1003/2348","CDS_position":"938/1125","Protein_position":"313/374","Amino_acids":"R/L","Codons":"cGg/cTg","Existing_variation":"COSV100320928;COSV57034716","TRANSCRIPT_STRAND":-1,"SYMBOL":"CCDC89","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:26762","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS8270.1","ENSP":"ENSP00000320649","SWISSPROT":"Q8N998.114","UNIPARC":"UPI000000DAB1","RefSeq":"NM_152723.3","MANE":"NM_152723.3","APPRIS":"P1","SIFT":"deleterious(0.02)","PolyPhen":"probably_damaging(0.954)","EXON":"1/1","DOMAINS":"Coiled-coils_(Ncoils):Coil;PANTHER:PTHR34768;PANTHER:PTHR34768:SF1","SOMATIC":"1;1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","PHENO":"1;1","CONTEXT":"CAAACCGCTCC","tumor_bam_uuid":"402faa7d-eda4-4db8-8dd0-cb5270757b13","normal_bam_uuid":"33d8628d-03ec-479a-accc-1870c6141066","case_id":"bf755bc2-b7aa-4c3c-8b3c-58b089b5cab6","COSMIC":"COSM6134821","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"163","Hugo_Symbol":"MYBL1","Entrez_Gene_Id":4603,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr8","Start_Position":66566895,"End_Position":66566895,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"T","Tumor_Seq_Allele1":"T","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-50-5946-02A-11D-2107-08","Matched_Norm_Sample_Barcode":"TCGA-50-5946-10A-01D-1753-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"429c318b-20cf-4bb5-96c2-2d521094feb6","Matched_Norm_Sample_UUID":"06a41ce7-1553-4452-9f41-da6262e26409","HGVSc":"c.1826A>T","HGVSp":"p.Tyr609Phe","HGVSp_Short":"p.Y609F","Transcript_ID":"ENST00000522677","Exon_Number":"13/16","t_depth":64,"t_ref_count":38,"t_alt_count":26,"n_depth":87,"all_effects":"MYBL1,missense_variant,p.Y609F,ENST00000522677,NM_001080416.4,c.1826A>T,MODERATE,YES,tolerated(0.34),benign(0.055),-1;MYBL1,missense_variant,p.Y609F,ENST00000524176,NM_001294282.2&NM_001144755.3,c.1826A>T,MODERATE,,tolerated(0.28),benign(0.055),-1;MYBL1,missense_variant,p.Y267F,ENST00000517885,,c.800A>T,MODERATE,,tolerated(0.43),probably_damaging(0.919),-1;MYBL1,non_coding_transcript_exon_variant,,ENST00000522419,,n.64A>T,MODIFIER,,,,-1","Allele":"A","Gene":"ENSG00000185697","Feature":"ENST00000522677","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"2237/5192","CDS_position":"1826/2259","Protein_position":"609/752","Amino_acids":"Y/F","Codons":"tAc/tTc","Existing_variation":"COSV72919185","TRANSCRIPT_STRAND":-1,"SYMBOL":"MYBL1","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:7547","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS47867.1","ENSP":"ENSP00000429633","SWISSPROT":"P10243.185","UNIPARC":"UPI000012FADE","UNIPROT_ISOFORM":"P10243-1","RefSeq":"NM_001080416.4","APPRIS":"P4","SIFT":"tolerated(0.34)","PolyPhen":"benign(0.055)","EXON":"13/16","DOMAINS":"Pfam:PF09316;PANTHER:PTHR45614;PANTHER:PTHR45614:SF9","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","CONTEXT":"TTTTGTAAGCA","tumor_bam_uuid":"8afa9bbf-25cb-4eb2-b19a-7d67b7b05baf","normal_bam_uuid":"caceb655-d370-4184-8b15-5271ce0aad44","case_id":"c95957a7-1a1a-4c8d-bb61-7c99b500f224","COSMIC":"COSM6181155","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"153","Hugo_Symbol":"NALCN","Entrez_Gene_Id":259232,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr13","Start_Position":101057972,"End_Position":101057972,"Strand":"+","Variant_Classification":"Nonsense_Mutation","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"A","dbSNP_RS":"rs866476189","Tumor_Sample_Barcode":"TCGA-17-Z031-01A-01W-0746-08","Matched_Norm_Sample_Barcode":"TCGA-17-Z031-11A-01W-0746-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"6516244a-dfd8-4568-a2d2-7556cbea52b1","Matched_Norm_Sample_UUID":"691dc2f3-35d7-4b83-a51a-49ed1d4c2a07","HGVSc":"c.4990C>T","HGVSp":"p.Gln1664Ter","HGVSp_Short":"p.Q1664*","Transcript_ID":"ENST00000251127","Exon_Number":"43/44","t_depth":309,"t_ref_count":230,"t_alt_count":77,"n_depth":73,"all_effects":"NALCN,stop_gained,p.Q1664*,ENST00000251127,NM_001350749.2&NM_052867.4,c.4990C>T,HIGH,,,,-1;NALCN,stop_gained,p.Q1693*,ENST00000675332,NM_001350748.2,c.5077C>T,HIGH,YES,,,-1;NALCN,stop_gained,p.Q1635*,ENST00000676315,NM_001350751.2&NM_001350750.2,c.4903C>T,HIGH,,,,-1;NALCN,stop_gained,p.Q1571*,ENST00000675150,,c.4711C>T,HIGH,,,,-1;NALCN,3_prime_UTR_variant,,ENST00000648359,,c.*610C>T,MODIFIER,,,,-1;NALCN-AS1,non_coding_transcript_exon_variant,,ENST00000457843,,n.1532G>A,MODIFIER,YES,,,1","Allele":"A","Gene":"ENSG00000102452","Feature":"ENST00000251127","Feature_type":"Transcript","One_Consequence":"stop_gained","Consequence":"stop_gained","cDNA_position":"5225/6971","CDS_position":"4990/5217","Protein_position":"1664/1738","Amino_acids":"Q/*","Codons":"Cag/Tag","Existing_variation":"rs866476189","TRANSCRIPT_STRAND":-1,"SYMBOL":"NALCN","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:19082","BIOTYPE":"protein_coding","CCDS":"CCDS9498.1","ENSP":"ENSP00000251127","SWISSPROT":"Q8IZF0.168","TREMBL":"A0A024RE05.44","UNIPARC":"UPI000004EBBD","UNIPROT_ISOFORM":"Q8IZF0-1","RefSeq":"NM_001350749.2;NM_052867.4","MANE":"NM_052867.4","APPRIS":"P1","EXON":"43/44","DOMAINS":"PANTHER:PTHR46141;PANTHER:PTHR46141:SF1;MobiDB_lite:mobidb-lite","IMPACT":"HIGH","VARIANT_CLASS":"SNV","TSL":1,"GENE_PHENO":"1","CONTEXT":"CCTCTGGGGTT","tumor_bam_uuid":"874092f9-5c52-4298-9651-0418633660b1","normal_bam_uuid":"bb97a9eb-2775-40c1-aecf-aa7e5b83a8f0","case_id":"c43c8eea-7014-4abe-b805-397a9062d3e0","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"102","Hugo_Symbol":"BIRC6","Entrez_Gene_Id":57448,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr2","Start_Position":32448926,"End_Position":32448926,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"T","Tumor_Sample_Barcode":"TCGA-17-Z033-01A-01W-0746-08","Matched_Norm_Sample_Barcode":"TCGA-17-Z033-11A-01W-0746-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"639aea7c-5a38-4641-bf0d-90a9ce8e2980","Matched_Norm_Sample_UUID":"27a976e4-0721-4c0a-94e5-f4ffbc460e54","HGVSc":"c.4616C>T","HGVSp":"p.Ser1539Leu","HGVSp_Short":"p.S1539L","Transcript_ID":"ENST00000421745","Exon_Number":"22/74","t_depth":62,"t_ref_count":53,"t_alt_count":9,"n_depth":55,"all_effects":"BIRC6,missense_variant,p.S1539L,ENST00000421745,NM_016252.3&NM_001378125.1,c.4616C>T,MODERATE,YES,deleterious(0.03),benign(0.011),1;BIRC6,missense_variant,p.S1455L,ENST00000648282,,c.4364C>T,MODERATE,,deleterious(0.03),benign(0.007),1;BIRC6,non_coding_transcript_exon_variant,,ENST00000483194,,n.443C>T,MODIFIER,,,,1","Allele":"T","Gene":"ENSG00000115760","Feature":"ENST00000421745","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant;splice_region_variant","cDNA_position":"4750/15703","CDS_position":"4616/14574","Protein_position":"1539/4857","Amino_acids":"S/L","Codons":"tCa/tTa","Existing_variation":"COSV101429135","TRANSCRIPT_STRAND":1,"SYMBOL":"BIRC6","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:13516","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS33175.2","ENSP":"ENSP00000393596","SWISSPROT":"Q9NR09.180","UNIPARC":"UPI000159689D","RefSeq":"NM_016252.3;NM_001378125.1","APPRIS":"P1","SIFT":"deleterious(0.03)","PolyPhen":"benign(0.011)","EXON":"22/74","DOMAINS":"PANTHER:PTHR46116;PANTHER:PTHR46116:SF4","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","GENE_PHENO":"1","CONTEXT":"CCTTTCAGGTA","tumor_bam_uuid":"45b677c8-60dc-4d66-b79b-f64f9a652025","normal_bam_uuid":"15bc0a6e-a474-4204-bf27-9d0d4d6b68b6","case_id":"a16d7bf7-07b7-4320-969c-fc68dd564a92","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"99","Hugo_Symbol":"IFT172","Entrez_Gene_Id":26160,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr2","Start_Position":27485419,"End_Position":27485419,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"T","dbSNP_RS":"rs1007620906","Tumor_Sample_Barcode":"TCGA-05-4396-01A-21D-1855-08","Matched_Norm_Sample_Barcode":"TCGA-05-4396-10A-01D-1855-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"0176cf1d-0760-4769-a493-277f4bb7585e","Matched_Norm_Sample_UUID":"1f8820d1-4a97-41b7-a4d8-be832c9e0575","HGVSc":"c.124C>A","HGVSp":"p.Leu42Met","HGVSp_Short":"p.L42M","Transcript_ID":"ENST00000260570","Exon_Number":"2/48","t_depth":140,"t_ref_count":90,"t_alt_count":50,"n_depth":140,"all_effects":"IFT172,missense_variant,p.L42M,ENST00000260570,NM_015662.3,c.124C>A,MODERATE,YES,deleterious(0),probably_damaging(0.996),-1;IFT172,missense_variant,p.L42M,ENST00000675690,,c.124C>A,MODERATE,,deleterious(0),probably_damaging(0.999),-1;IFT172,missense_variant,p.L42M,ENST00000359466,,c.124C>A,MODERATE,,deleterious(0.04),probably_damaging(0.986),-1;IFT172,missense_variant,p.L21M,ENST00000416524,,c.61C>A,MODERATE,,deleterious(0.04),probably_damaging(0.986),-1;IFT172,missense_variant,p.L21M,ENST00000675728,,c.61C>A,MODERATE,,deleterious(0.04),probably_damaging(0.986),-1;IFT172,missense_variant,p.L42M,ENST00000674701,,c.124C>A,MODERATE,,deleterious(0.04),probably_damaging(0.986),-1;IFT172,missense_variant,p.L42M,ENST00000674932,,c.124C>A,MODERATE,,deleterious(0.03),probably_damaging(0.996),-1;IFT172,missense_variant,p.L21M,ENST00000674824,,c.61C>A,MODERATE,,deleterious(0.04),probably_damaging(0.995),-1;IFT172,missense_variant,p.L42M,ENST00000676119,,c.124C>A,MODERATE,,deleterious(0.03),probably_damaging(0.976),-1;IFT172,missense_variant,p.L42M,ENST00000675729,,c.124C>A,MODERATE,,deleterious(0.04),probably_damaging(0.995),-1;IFT172,missense_variant,p.L42M,ENST00000675963,,c.124C>A,MODERATE,,deleterious(0.02),probably_damaging(0.976),-1;IFT172,non_coding_transcript_exon_variant,,ENST00000507184,,n.256C>A,MODIFIER,,,,-1;IFT172,non_coding_transcript_exon_variant,,ENST00000676300,,n.210C>A,MODIFIER,,,,-1;IFT172,non_coding_transcript_exon_variant,,ENST00000476264,,n.214C>A,MODIFIER,,,,-1;IFT172,non_coding_transcript_exon_variant,,ENST00000675618,,n.204C>A,MODIFIER,,,,-1;IFT172,non_coding_transcript_exon_variant,,ENST00000675925,,n.276C>A,MODIFIER,,,,-1;IFT172,non_coding_transcript_exon_variant,,ENST00000511842,,n.149C>A,MODIFIER,,,,-1;IFT172,non_coding_transcript_exon_variant,,ENST00000475476,,n.225C>A,MODIFIER,,,,-1;IFT172,non_coding_transcript_exon_variant,,ENST00000675757,,n.9C>A,MODIFIER,,,,-1;IFT172,intron_variant,,ENST00000675410,,c.-385-1153C>A,MODIFIER,,,,-1","Allele":"T","Gene":"ENSG00000138002","Feature":"ENST00000260570","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"214/5395","CDS_position":"124/5250","Protein_position":"42/1749","Amino_acids":"L/M","Codons":"Ctg/Atg","Existing_variation":"rs1007620906;COSV53137530;COSV53140281","TRANSCRIPT_STRAND":-1,"SYMBOL":"IFT172","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:30391","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS1755.1","ENSP":"ENSP00000260570","SWISSPROT":"Q9UG01.148","UNIPARC":"UPI0000353ABB","UNIPROT_ISOFORM":"Q9UG01-1","RefSeq":"NM_015662.3","MANE":"NM_015662.3","APPRIS":"P1","SIFT":"deleterious(0)","PolyPhen":"probably_damaging(0.996)","EXON":"2/48","DOMAINS":"Gene3D:2.130.10.10;Pfam:PF00400;PANTHER:PTHR15722;PANTHER:PTHR15722:SF2;SMART:SM00320;Superfamily:SSF50978","SOMATIC":"0;1;1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"0;1;1","GENE_PHENO":"1","CONTEXT":"ATACAGCAAGA","tumor_bam_uuid":"25f239bb-883f-44bf-88c2-3977503a5321","normal_bam_uuid":"69e9e6eb-f053-4285-a66e-2e12216d6893","case_id":"9f81c602-8afa-4588-b0b6-6e5a1a128d5a","COSMIC":"COSM6091432;COSM6091433","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"561","Hugo_Symbol":"CRYGA","Entrez_Gene_Id":1418,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr2","Start_Position":208160863,"End_Position":208160863,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"A","dbSNP_RS":"rs766462446","Tumor_Sample_Barcode":"TCGA-17-Z022-01A-01W-0746-08","Matched_Norm_Sample_Barcode":"TCGA-17-Z022-11A-01W-0746-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"7f07e5b3-bf70-4690-84ba-a9eace798a24","Matched_Norm_Sample_UUID":"61862004-a35f-4af5-95c0-ee3de1158131","HGVSc":"c.466G>T","HGVSp":"p.Asp156Tyr","HGVSp_Short":"p.D156Y","Transcript_ID":"ENST00000304502","Exon_Number":"3/3","t_depth":90,"t_ref_count":66,"t_alt_count":23,"n_depth":149,"all_effects":"CRYGA,missense_variant,p.D156Y,ENST00000304502,NM_014617.4,c.466G>T,MODERATE,YES,deleterious(0.01),probably_damaging(0.999),-1;C2orf80,downstream_gene_variant,,ENST00000341287,NM_001099334.3,,MODIFIER,YES,,,-1;C2orf80,downstream_gene_variant,,ENST00000428015,,,MODIFIER,,,,-1;C2orf80,downstream_gene_variant,,ENST00000451342,,,MODIFIER,,,,-1;C2orf80,downstream_gene_variant,,ENST00000451346,,,MODIFIER,,,,-1;C2orf80,downstream_gene_variant,,ENST00000453017,,,MODIFIER,,,,-1","Allele":"A","Gene":"ENSG00000168582","Feature":"ENST00000304502","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"499/622","CDS_position":"466/525","Protein_position":"156/174","Amino_acids":"D/Y","Codons":"Gac/Tac","Existing_variation":"rs766462446;COSV100378360;COSV100378675","TRANSCRIPT_STRAND":-1,"SYMBOL":"CRYGA","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:2408","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS33367.1","ENSP":"ENSP00000302105","SWISSPROT":"P11844.163","TREMBL":"A0A0S2A4T3.29","UNIPARC":"UPI000049DF32","RefSeq":"NM_014617.4","MANE":"NM_014617.4","APPRIS":"P1","SIFT":"deleterious(0.01)","PolyPhen":"probably_damaging(0.999)","EXON":"3/3","DOMAINS":"Gene3D:2.60.20.10;Pfam:PF00030;Prints:PR01367;PROSITE_profiles:PS50915;PANTHER:PTHR11818;PANTHER:PTHR11818:SF28;SMART:SM00247;Superfamily:SSF49695","gnomAD_AF":"5.173e-05","gnomAD_AFR_AF":"0","gnomAD_AMR_AF":"0.0003758","gnomAD_ASJ_AF":"0","gnomAD_EAS_AF":"0","gnomAD_FIN_AF":"0","gnomAD_NFE_AF":"0","gnomAD_OTH_AF":"0","gnomAD_SAS_AF":"0","MAX_AF":"0.0003758","MAX_AF_POPS":"gnomAD_AMR","SOMATIC":"0;1;1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"0;1;1","CONTEXT":"CCAGTCGTGGT","tumor_bam_uuid":"1cf92bb6-d15e-4fe2-84d5-b55215b228ad","normal_bam_uuid":"3ae13c21-3d20-4112-adce-46f8c028f0db","case_id":"e44e279b-103e-436e-8988-1139b000bdfd","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"343","Hugo_Symbol":"OR9G4","Entrez_Gene_Id":283189,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr11","Start_Position":56742831,"End_Position":56742831,"Strand":"+","Variant_Classification":"Silent","Variant_Type":"SNP","Reference_Allele":"T","Tumor_Seq_Allele1":"T","Tumor_Seq_Allele2":"C","Tumor_Sample_Barcode":"TCGA-44-2656-01A-02W-0928-08","Matched_Norm_Sample_Barcode":"TCGA-44-2656-10A-01D-0969-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"b2773f71-23ca-4f92-99cb-1452846a1b36","Matched_Norm_Sample_UUID":"03b8420d-480f-48e1-88a7-8ee9917049a6","HGVSc":"c.936A>G","HGVSp":"p.Thr312=","HGVSp_Short":"p.T312=","Transcript_ID":"ENST00000641668","Exon_Number":"2/2","t_depth":432,"t_ref_count":333,"t_alt_count":99,"n_depth":116,"all_effects":"OR9G4,synonymous_variant,p.T312=,ENST00000641668,NM_001005284.1,c.936A>G,LOW,YES,,,-1;OR9G4,synonymous_variant,p.T312=,ENST00000641581,,c.936A>G,LOW,,,,-1;MIR6128,upstream_gene_variant,,ENST00000615528,,,MODIFIER,YES,,,1;OR9G4,non_coding_transcript_exon_variant,,ENST00000641505,,n.922A>G,MODIFIER,,,,-1;OR9G4,non_coding_transcript_exon_variant,,ENST00000641980,,n.919A>G,MODIFIER,,,,-1;OR9G3P,downstream_gene_variant,,ENST00000525553,,,MODIFIER,YES,,,1","Allele":"C","Gene":"ENSG00000172457","Feature":"ENST00000641668","Feature_type":"Transcript","One_Consequence":"synonymous_variant","Consequence":"synonymous_variant","cDNA_position":"1000/2608","CDS_position":"936/939","Protein_position":"312/312","Amino_acids":"T","Codons":"acA/acG","Existing_variation":"COSV57247858","TRANSCRIPT_STRAND":-1,"SYMBOL":"OR9G4","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:15322","BIOTYPE":"protein_coding","CANONICAL":"YES","ENSP":"ENSP00000493182","TREMBL":"A0A286YFA5.18","UNIPARC":"UPI0000041CC5","RefSeq":"NM_001005284.1","APPRIS":"P1","EXON":"2/2","SOMATIC":"1","IMPACT":"LOW","PICK":1,"VARIANT_CLASS":"SNV","PHENO":"1","CONTEXT":"CTTCATGTTTG","tumor_bam_uuid":"3543b887-5dbd-4038-b787-d7a6cb73842a","normal_bam_uuid":"ada4ffdf-3ba5-4ad0-8eb4-634d04b2b9b8","case_id":"42ca54fc-c1ae-41cd-bca1-7fe9810db460","COSMIC":"COSM6069539","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"56","Hugo_Symbol":"TYR","Entrez_Gene_Id":7299,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr11","Start_Position":89191209,"End_Position":89191209,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"T","dbSNP_RS":"rs750027827","Tumor_Sample_Barcode":"TCGA-17-Z026-01A-01W-0746-08","Matched_Norm_Sample_Barcode":"TCGA-17-Z026-11A-01W-0746-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"bb048ffc-de00-4706-85bb-d052c0fb6496","Matched_Norm_Sample_UUID":"f1c94247-89eb-4b5a-abc6-8c01571695bc","HGVSc":"c.827G>T","HGVSp":"p.Cys276Phe","HGVSp_Short":"p.C276F","Transcript_ID":"ENST00000263321","Exon_Number":"2/5","t_depth":95,"t_ref_count":75,"t_alt_count":20,"n_depth":112,"all_effects":"TYR,missense_variant,p.C276F,ENST00000263321,NM_000372.5,c.827G>T,MODERATE,YES,deleterious(0),probably_damaging(0.999),1;TYR,non_coding_transcript_exon_variant,,ENST00000526139,,n.888G>T,MODIFIER,,,,1","Allele":"T","Gene":"ENSG00000077498","Feature":"ENST00000263321","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"906/2062","CDS_position":"827/1590","Protein_position":"276/529","Amino_acids":"C/F","Codons":"tGt/tTt","Existing_variation":"rs750027827;CM091274","TRANSCRIPT_STRAND":1,"SYMBOL":"TYR","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:12442","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS8284.1","ENSP":"ENSP00000263321","SWISSPROT":"P14679.217","TREMBL":"L8B082.69","UNIPARC":"UPI000004441A","UNIPROT_ISOFORM":"P14679-1","RefSeq":"NM_000372.5","MANE":"NM_000372.5","APPRIS":"P1","SIFT":"deleterious(0)","PolyPhen":"probably_damaging(0.999)","EXON":"2/5","DOMAINS":"PANTHER:PTHR11474;PANTHER:PTHR11474:SF93;Gene3D:1.10.1280.10;Pfam:PF00264;Superfamily:SSF48056","gnomAD_AF":"0","gnomAD_AFR_AF":"0","gnomAD_AMR_AF":"0","gnomAD_ASJ_AF":"0","gnomAD_EAS_AF":"0","gnomAD_FIN_AF":"0","gnomAD_NFE_AF":"0","gnomAD_OTH_AF":"0","gnomAD_SAS_AF":"0","MAX_AF":"0","MAX_AF_POPS":"gnomAD_AFR;gnomAD_AMR;gnomAD_ASJ;gnomAD_EAS;gnomAD_FIN;gnomAD_NFE;gnomAD_OTH;gnomAD_SAS","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"0;1","GENE_PHENO":"1","CONTEXT":"TGTCTGTAGCC","tumor_bam_uuid":"36a7238c-d3bc-4d4e-ae55-a1fa73376e43","normal_bam_uuid":"bbe2d6bf-43ac-4c73-9bb1-9f0e862a84a1","case_id":"8b3a111a-aa46-41b9-bbec-28f4290da939","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2"}
{"X1":"216","Hugo_Symbol":"TUBGCP6","Entrez_Gene_Id":85378,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr22","Start_Position":50218249,"End_Position":50218249,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"A","Tumor_Seq_Allele1":"A","Tumor_Seq_Allele2":"G","Tumor_Sample_Barcode":"TCGA-38-4625-01A-01D-1553-08","Matched_Norm_Sample_Barcode":"TCGA-38-4625-11A-01D-1553-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"6f317d31-c9a4-4345-b5b1-b75776536402","Matched_Norm_Sample_UUID":"fd427c46-8988-4947-9cc1-c129b6c3981a","HGVSc":"c.5108T>C","HGVSp":"p.Val1703Ala","HGVSp_Short":"p.V1703A","Transcript_ID":"ENST00000248846","Exon_Number":"23/25","t_depth":59,"t_ref_count":35,"t_alt_count":24,"n_depth":44,"all_effects":"TUBGCP6,missense_variant,p.V1703A,ENST00000248846,NM_020461.4,c.5108T>C,MODERATE,YES,tolerated(0.25),benign(0.336),-1;TUBGCP6,synonymous_variant,p.R378=,ENST00000425018,,c.1134T>C,LOW,,,,-1;TUBGCP6,3_prime_UTR_variant,,ENST00000439308,,c.*685T>C,MODIFIER,,,,-1;SELENOO,downstream_gene_variant,,ENST00000380903,NM_031454.2,,MODIFIER,YES,,,1;SELENOO,downstream_gene_variant,,ENST00000611222,,,MODIFIER,,,,1;TUBGCP6,non_coding_transcript_exon_variant,,ENST00000491449,,n.3650T>C,MODIFIER,,,,-1;TUBGCP6,downstream_gene_variant,,ENST00000473946,,,MODIFIER,,,,-1;TUBGCP6,downstream_gene_variant,,ENST00000489511,,,MODIFIER,,,,-1;SELENOO,downstream_gene_variant,,ENST00000492092,,,MODIFIER,,,,1;TUBGCP6,non_coding_transcript_exon_variant,,ENST00000498611,,n.4804T>C,MODIFIER,,,,-1","Allele":"G","Gene":"ENSG00000128159","Feature":"ENST00000248846","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"5672/6066","CDS_position":"5108/5460","Protein_position":"1703/1819","Amino_acids":"V/A","Codons":"gTg/gCg","Existing_variation":"COSV50562672","TRANSCRIPT_STRAND":-1,"SYMBOL":"TUBGCP6","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:18127","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS14087.1","ENSP":"ENSP00000248846","SWISSPROT":"Q96RT7.165","UNIPARC":"UPI000013CC55","UNIPROT_ISOFORM":"Q96RT7-1","RefSeq":"NM_020461.4","MANE":"NM_020461.4","APPRIS":"P1","SIFT":"tolerated(0.25)","PolyPhen":"benign(0.336)","EXON":"23/25","DOMAINS":"Gene3D:1.20.120.1900;PDB-ENSP_mappings:6v6c.L;PDB-ENSP_mappings:6v6s.L;Pfam:PF04130;PANTHER:PTHR19302;PANTHER:PTHR19302:SF55","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","GENE_PHENO":"1","CONTEXT":"CGCCCACGGTG","tumor_bam_uuid":"0ccddc54-9edd-433a-8ea6-1913801265e5","normal_bam_uuid":"2e9551f1-c17e-45e5-bcc3-5d2a5904b17e","case_id":"0ea4920f-f4c8-4590-84b3-eb419824e144","COSMIC":"COSM6095535","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"22","Hugo_Symbol":"LGR5","Entrez_Gene_Id":8549,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr12","Start_Position":71580299,"End_Position":71580299,"Strand":"+","Variant_Classification":"Silent","Variant_Type":"SNP","Reference_Allele":"T","Tumor_Seq_Allele1":"T","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-53-A4EZ-01A-12D-A24P-08","Matched_Norm_Sample_Barcode":"TCGA-53-A4EZ-10A-01D-A24P-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"1645b860-3384-436f-811f-d4cd624c5189","Matched_Norm_Sample_UUID":"f7518723-485a-497f-9568-e6d3e34a7ffc","HGVSc":"c.1428T>A","HGVSp":"p.Ala476=","HGVSp_Short":"p.A476=","Transcript_ID":"ENST00000266674","Exon_Number":"16/18","t_depth":207,"t_ref_count":174,"t_alt_count":33,"n_depth":154,"all_effects":"LGR5,synonymous_variant,p.A476=,ENST00000266674,NM_003667.4,c.1428T>A,LOW,YES,,,1;LGR5,synonymous_variant,p.A452=,ENST00000540815,NM_001277226.2,c.1356T>A,LOW,,,,1;LGR5,synonymous_variant,p.A404=,ENST00000536515,NM_001277227.2,c.1212T>A,LOW,,,,1;LGR5,non_coding_transcript_exon_variant,,ENST00000550851,,n.1809T>A,MODIFIER,,,,1;LGR5,downstream_gene_variant,,ENST00000547310,,,MODIFIER,,,,1;AC078860.3,downstream_gene_variant,,ENST00000546601,,,MODIFIER,YES,,,-1","Allele":"A","Gene":"ENSG00000139292","Feature":"ENST00000266674","Feature_type":"Transcript","One_Consequence":"synonymous_variant","Consequence":"synonymous_variant","cDNA_position":"1711/4583","CDS_position":"1428/2724","Protein_position":"476/907","Amino_acids":"A","Codons":"gcT/gcA","Existing_variation":"COSV99877870","TRANSCRIPT_STRAND":1,"SYMBOL":"LGR5","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:4504","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS9000.1","ENSP":"ENSP00000266674","SWISSPROT":"O75473.180","TREMBL":"A0A0A8K8C7.47","UNIPARC":"UPI000004B65C","UNIPROT_ISOFORM":"O75473-1","RefSeq":"NM_003667.4","MANE":"NM_003667.4","APPRIS":"P1","EXON":"16/18","DOMAINS":"Gene3D:3.80.10.10;PDB-ENSP_mappings:4bsr.A;PDB-ENSP_mappings:4bsr.B;PDB-ENSP_mappings:4bss.A;PDB-ENSP_mappings:4bss.B;PDB-ENSP_mappings:4bss.E;PDB-ENSP_mappings:4bss.F;PDB-ENSP_mappings:4bst.A;PDB-ENSP_mappings:4bst.B;PDB-ENSP_mappings:4bsu.A;PDB-ENSP_mappings:4bsu.B;PDB-ENSP_mappings:4bsu.E;PDB-ENSP_mappings:4bsu.F;PDB-ENSP_mappings:4kng.A;PDB-ENSP_mappings:4kng.B;PDB-ENSP_mappings:4ufr.A;PDB-ENSP_mappings:4ufr.C;PDB-ENSP_mappings:4ufs.A;PANTHER:PTHR24372;PANTHER:PTHR24372:SF71","SOMATIC":"1","IMPACT":"LOW","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","CONTEXT":"TATGCTTACCA","tumor_bam_uuid":"ccd0d585-6296-45aa-9d93-79b459668321","normal_bam_uuid":"e288669d-037c-4ad4-9d1a-1b4d8f4f7c89","case_id":"7ca711ec-9ac0-4fa7-8a60-32ae84b8789a","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"609","Hugo_Symbol":"OR10X1","Entrez_Gene_Id":128367,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr1","Start_Position":158579583,"End_Position":158579583,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"T","Tumor_Sample_Barcode":"TCGA-55-7576-01A-11D-2063-08","Matched_Norm_Sample_Barcode":"TCGA-55-7576-10A-01D-2063-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"c8e60b5b-1c41-426f-90a8-b63c97124d04","Matched_Norm_Sample_UUID":"ce851db4-b8ff-4b99-9474-f9e393d89791","HGVSc":"c.317G>A","HGVSp":"p.Arg106Lys","HGVSp_Short":"p.R106K","Transcript_ID":"ENST00000623167","Exon_Number":"1/1","t_depth":123,"t_ref_count":114,"t_alt_count":9,"n_depth":56,"all_effects":"OR10X1,missense_variant,p.R106K,ENST00000623167,NM_001004477.1,c.317G>A,MODERATE,YES,tolerated(0.25),benign(0.003),-1","Allele":"T","Gene":"ENSG00000279111","Feature":"ENST00000623167","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"317/981","CDS_position":"317/981","Protein_position":"106/326","Amino_acids":"R/K","Codons":"aGa/aAa","Existing_variation":"COSV63766985","TRANSCRIPT_STRAND":-1,"SYMBOL":"OR10X1","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:14995","BIOTYPE":"protein_coding","CANONICAL":"YES","ENSP":"ENSP00000485609","SWISSPROT":"Q8NGY0.134","TREMBL":"A0A126GWA4.28","UNIPARC":"UPI000004CA20","RefSeq":"NM_001004477.1","MANE":"NM_001004477.1","APPRIS":"P1","SIFT":"tolerated(0.25)","PolyPhen":"benign(0.003)","EXON":"1/1","DOMAINS":"Gene3D:1.20.1070.10;Pfam:PF13853;PROSITE_profiles:PS50262;PANTHER:PTHR24242;PANTHER:PTHR24242:SF264;Superfamily:SSF81321;CDD:cd15225","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","PHENO":"1","CONTEXT":"TGCTTCTGTCC","tumor_bam_uuid":"25517d81-24cc-4126-adf2-c0e132103b15","normal_bam_uuid":"ca117605-1906-4a88-a93f-077e6c17f38f","case_id":"055e9a43-3c00-4110-a303-e4407676bec0","COSMIC":"COSM3476141","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2"}
{"X1":"171","Hugo_Symbol":"SLITRK1","Entrez_Gene_Id":114798,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr13","Start_Position":83880642,"End_Position":83880642,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-86-7713-01A-11D-2063-08","Matched_Norm_Sample_Barcode":"TCGA-86-7713-10A-01D-2063-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"1416b4c9-f535-4611-b4b9-85fbd0f7b0a4","Matched_Norm_Sample_UUID":"4929c3d1-f4da-4766-9d13-85b5c7babf4c","HGVSc":"c.866C>T","HGVSp":"p.Pro289Leu","HGVSp_Short":"p.P289L","Transcript_ID":"ENST00000377084","Exon_Number":"1/1","t_depth":26,"t_ref_count":16,"t_alt_count":10,"n_depth":69,"all_effects":"SLITRK1,missense_variant,p.P289L,ENST00000377084,NM_052910.2,c.866C>T,MODERATE,YES,tolerated(0.09),benign(0.122),-1;SLITRK1,missense_variant,p.P289L,ENST00000674365,NM_001281503.2,c.866C>T,MODERATE,,tolerated(0.09),benign(0.122),-1;AL355481.1,intron_variant,,ENST00000649183,,n.201+1832G>A,MODIFIER,,,,1;AL355481.1,intron_variant,,ENST00000667130,,n.204+1832G>A,MODIFIER,YES,,,1;AL355481.1,upstream_gene_variant,,ENST00000654693,,,MODIFIER,,,,1","Allele":"A","Gene":"ENSG00000178235","Feature":"ENST00000377084","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"1752/5189","CDS_position":"866/2091","Protein_position":"289/696","Amino_acids":"P/L","Codons":"cCt/cTt","Existing_variation":"COSV65674164;COSV65674366","TRANSCRIPT_STRAND":-1,"SYMBOL":"SLITRK1","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:20297","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS9464.1","ENSP":"ENSP00000366288","SWISSPROT":"Q96PX8.165","UNIPARC":"UPI0000035971","RefSeq":"NM_052910.2","APPRIS":"P1","SIFT":"tolerated(0.09)","PolyPhen":"benign(0.122)","EXON":"1/1","DOMAINS":"PANTHER:PTHR45773;PANTHER:PTHR45773:SF7","SOMATIC":"1;1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","PHENO":"1;1","GENE_PHENO":"1","CONTEXT":"TGAAAGGAGTT","tumor_bam_uuid":"bd233b3e-6a9c-4ee7-9831-9cdc23f1acc1","normal_bam_uuid":"002901f2-82b7-4839-9b6b-9e2eaa849949","case_id":"cc68632c-b1e3-491b-b562-9468e2d1c101","COSMIC":"COSM140005","hotspot":"N","RNA_Support":"Unknown","callers":"muse;varscan2"}
{"X1":"306","Hugo_Symbol":"DMBT1","Entrez_Gene_Id":1755,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr10","Start_Position":122619313,"End_Position":122619313,"Strand":"+","Variant_Classification":"Nonsense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"T","Tumor_Sample_Barcode":"TCGA-55-A4DF-01A-11D-A24D-08","Matched_Norm_Sample_Barcode":"TCGA-55-A4DF-10A-01D-A24F-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"9b0086c6-b9d2-4307-87c2-3ad6d462d9b5","Matched_Norm_Sample_UUID":"b6d8e54f-06ff-47fe-b6a7-371417e180a0","HGVSc":"c.5221C>T","HGVSp":"p.Gln1741Ter","HGVSp_Short":"p.Q1741*","Transcript_ID":"ENST00000338354","Exon_Number":"42/56","t_depth":171,"t_ref_count":129,"t_alt_count":41,"n_depth":193,"all_effects":"DMBT1,stop_gained,p.Q1741*,ENST00000338354,NM_001377530.1,c.5221C>T,HIGH,YES,,,1;DMBT1,stop_gained,p.Q1612*,ENST00000368909,NM_007329.3&NM_001320644.2,c.4834C>T,HIGH,,,,1;DMBT1,stop_gained,p.Q1612*,ENST00000619379,,c.4834C>T,HIGH,,,,1;DMBT1,stop_gained,p.Q1612*,ENST00000652446,,c.4834C>T,HIGH,,,,1;DMBT1,stop_gained,p.Q1612*,ENST00000666315,,c.4834C>T,HIGH,,,,1;DMBT1,stop_gained,p.Q1602*,ENST00000344338,,c.4804C>T,HIGH,,,,1;DMBT1,stop_gained,p.Q1602*,ENST00000368955,NM_017579.3,c.4804C>T,HIGH,,,,1;DMBT1,stop_gained,p.Q1731*,ENST00000664692,,c.5191C>T,HIGH,,,,1;DMBT1,stop_gained,p.Q1612*,ENST00000653442,,c.4834C>T,HIGH,,,,1;DMBT1,stop_gained,p.Q984*,ENST00000330163,,c.2950C>T,HIGH,,,,1;DMBT1,stop_gained,p.Q984*,ENST00000368956,NM_004406.3,c.2950C>T,HIGH,,,,1;DMBT1,stop_gained,p.Q726*,ENST00000664974,,c.2176C>T,HIGH,,,,1;DMBT1,intron_variant,,ENST00000657942,,c.1381+973C>T,MODIFIER,,,,1;DMBT1,downstream_gene_variant,,ENST00000668486,,,MODIFIER,,,,1;DMBT1,upstream_gene_variant,,ENST00000663623,,,MODIFIER,,,,1","Allele":"T","Gene":"ENSG00000187908","Feature":"ENST00000338354","Feature_type":"Transcript","One_Consequence":"stop_gained","Consequence":"stop_gained","cDNA_position":"5238/7984","CDS_position":"5221/7629","Protein_position":"1741/2542","Amino_acids":"Q/*","Codons":"Cag/Tag","Existing_variation":"COSV100354108","TRANSCRIPT_STRAND":1,"SYMBOL":"DMBT1","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:2926","BIOTYPE":"protein_coding","CANONICAL":"YES","ENSP":"ENSP00000342210","SWISSPROT":"Q9UGM3.180","UNIPARC":"UPI000047021D","UNIPROT_ISOFORM":"Q9UGM3-6","RefSeq":"NM_001377530.1","MANE":"NM_001377530.1","APPRIS":"A2","EXON":"42/56","DOMAINS":"Gene3D:3.10.250.10;PANTHER:PTHR19331;PANTHER:PTHR19331:SF309","SOMATIC":"1","IMPACT":"HIGH","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","CONTEXT":"CTGCTCAGTCC","tumor_bam_uuid":"228352b7-77ec-4b68-9731-0919b6b9e144","normal_bam_uuid":"47eacc7f-3755-4c32-a65e-bd6c1dc174fe","case_id":"362000e4-cf7c-48fc-93cc-8f5994b442ea","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"110","Hugo_Symbol":"FAM135B","Entrez_Gene_Id":51059,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr8","Start_Position":138152284,"End_Position":138152284,"Strand":"+","Variant_Classification":"Nonsense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-55-1592-01A-01W-0928-08","Matched_Norm_Sample_Barcode":"TCGA-55-1592-11A-01D-0969-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"cbaad26c-c0a7-4159-bced-693fc457de02","Matched_Norm_Sample_UUID":"28c0bdc9-9dd1-4ce6-9254-e177f58970b8","HGVSc":"c.2191G>T","HGVSp":"p.Gly731Ter","HGVSp_Short":"p.G731*","Transcript_ID":"ENST00000395297","Exon_Number":"13/20","t_depth":119,"t_ref_count":81,"t_alt_count":38,"n_depth":110,"all_effects":"FAM135B,stop_gained,p.G731*,ENST00000395297,NM_001362965.1&NM_015912.4,c.2191G>T,HIGH,YES,,,-1;FAM135B,stop_gained,p.G731*,ENST00000276737,,c.2191G>T,HIGH,,,,-1;FAM135B,stop_gained,p.G41*,ENST00000467365,,c.121G>T,HIGH,,,,-1;FAM135B,3_prime_UTR_variant,,ENST00000482951,,c.*2137G>T,MODIFIER,,,,-1;FAM135B,upstream_gene_variant,,ENST00000395295,,,MODIFIER,,,,-1","Allele":"A","Gene":"ENSG00000147724","Feature":"ENST00000395297","Feature_type":"Transcript","One_Consequence":"stop_gained","Consequence":"stop_gained","cDNA_position":"2801/7401","CDS_position":"2191/4221","Protein_position":"731/1406","Amino_acids":"G/*","Codons":"Gga/Tga","Existing_variation":"COSV99423142","TRANSCRIPT_STRAND":-1,"SYMBOL":"FAM135B","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:28029","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS6375.2","ENSP":"ENSP00000378710","SWISSPROT":"Q49AJ0.104","UNIPARC":"UPI000057A0DB","UNIPROT_ISOFORM":"Q49AJ0-1","RefSeq":"NM_001362965.1;NM_015912.4","MANE":"NM_015912.4","APPRIS":"P1","EXON":"13/20","DOMAINS":"PANTHER:PTHR12482;PANTHER:PTHR12482:SF3","SOMATIC":"1","IMPACT":"HIGH","PICK":1,"VARIANT_CLASS":"SNV","TSL":5,"PHENO":"1","GENE_PHENO":"1","CONTEXT":"GTGTCCACCCT","tumor_bam_uuid":"65838192-8515-4231-94e3-8978a7741c8b","normal_bam_uuid":"d7de45c9-18b3-4595-895d-69739aa75192","case_id":"a41c46da-7ed4-4192-bd16-b3cbb94a5133","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"107","Hugo_Symbol":"NLRC5","Entrez_Gene_Id":84166,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr16","Start_Position":57061674,"End_Position":57061674,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"T","Tumor_Sample_Barcode":"TCGA-55-A491-01A-11D-A24D-08","Matched_Norm_Sample_Barcode":"TCGA-55-A491-10A-01D-A24F-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"949edda8-03b3-458f-913c-8f624325a927","Matched_Norm_Sample_UUID":"ec26769f-b426-4d7d-9a04-d66689e215ce","HGVSc":"c.4127G>T","HGVSp":"p.Gly1376Val","HGVSp_Short":"p.G1376V","Transcript_ID":"ENST00000262510","Exon_Number":"32/49","t_depth":55,"t_ref_count":34,"t_alt_count":21,"n_depth":111,"all_effects":"NLRC5,missense_variant,p.G1376V,ENST00000262510,NM_032206.4,c.4127G>T,MODERATE,YES,deleterious(0.03),benign(0.012),1;NLRC5,missense_variant,p.G1347V,ENST00000539144,NM_001330552.2,c.4040G>T,MODERATE,,tolerated(0.07),benign(0.031),1;NLRC5,missense_variant,p.G1128V,ENST00000538805,,c.3383G>T,MODERATE,,deleterious(0.02),benign(0.098),1;NLRC5,missense_variant,p.G852V,ENST00000538110,,c.2555G>T,MODERATE,,deleterious(0.01),benign(0.062),1;NLRC5,missense_variant,p.G587V,ENST00000543030,,c.1760G>T,MODERATE,,deleterious(0.03),benign(0.098),1;NLRC5,missense_variant,p.G128V,ENST00000399221,,c.383G>T,MODERATE,,deleterious(0.03),benign(0.138),1;NLRC5,missense_variant,p.G527V,ENST00000538453,,c.1580G>T,MODERATE,,deleterious(0.03),benign(0.037),1;NLRC5,missense_variant,p.G378V,ENST00000540182,,c.1133G>T,MODERATE,,deleterious(0.01),benign(0.062),1;NLRC5,missense_variant,p.G316V,ENST00000537056,,c.947G>T,MODERATE,,deleterious(0.01),benign(0.098),1;NLRC5,3_prime_UTR_variant,,ENST00000545081,,c.*195G>T,MODIFIER,,,,1;NLRC5,non_coding_transcript_exon_variant,,ENST00000538930,,n.1265G>T,MODIFIER,,,,1;NLRC5,non_coding_transcript_exon_variant,,ENST00000535284,,n.577G>T,MODIFIER,,,,1;NLRC5,non_coding_transcript_exon_variant,,ENST00000543402,,n.474G>T,MODIFIER,,,,1;NLRC5,downstream_gene_variant,,ENST00000538778,,,MODIFIER,,,,1;AC023825.2,upstream_gene_variant,,ENST00000562970,,,MODIFIER,YES,,,-1","Allele":"T","Gene":"ENSG00000140853","Feature":"ENST00000262510","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"4352/6822","CDS_position":"4127/5601","Protein_position":"1376/1866","Amino_acids":"G/V","Codons":"gGg/gTg","Existing_variation":"COSV99347099","TRANSCRIPT_STRAND":1,"SYMBOL":"NLRC5","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:29933","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS10773.1","ENSP":"ENSP00000262510","SWISSPROT":"Q86WI3.147","UNIPARC":"UPI00001AEE94","UNIPROT_ISOFORM":"Q86WI3-1","RefSeq":"NM_032206.4","APPRIS":"P4","SIFT":"deleterious(0.03)","PolyPhen":"benign(0.012)","EXON":"32/49","DOMAINS":"Gene3D:3.80.10.10;Superfamily:SSF52047","SOMATIC":"1","IMPACT":"MODERATE","VARIANT_CLASS":"SNV","TSL":5,"PHENO":"1","CONTEXT":"GGTGGGGCGAC","tumor_bam_uuid":"71c24b0d-285d-4697-a323-7f1bff3c7e81","normal_bam_uuid":"75b2bde7-1cf9-41ce-a33f-a8cbd0e254b2","case_id":"a250a369-e536-4a18-b7af-2911133d7bdc","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"510","Hugo_Symbol":"NIBAN3","Entrez_Gene_Id":199786,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr19","Start_Position":17533683,"End_Position":17533683,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"T","Tumor_Sample_Barcode":"TCGA-86-8673-01A-11D-2393-08","Matched_Norm_Sample_Barcode":"TCGA-86-8673-10A-01D-2393-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"0e7abafe-f12a-492a-8854-8b55340fe37c","Matched_Norm_Sample_UUID":"3f4a039a-338c-46d7-a465-e66dc4818841","HGVSc":"c.502C>T","HGVSp":"p.Leu168Phe","HGVSp_Short":"p.L168F","Transcript_ID":"ENST00000335393","Exon_Number":"5/16","t_depth":84,"t_ref_count":71,"t_alt_count":13,"n_depth":86,"all_effects":"NIBAN3,missense_variant,p.L137F,ENST00000599164,NM_001321827.2,c.409C>T,MODERATE,,deleterious(0.02),benign(0.148),1;NIBAN3,missense_variant,p.L168F,ENST00000335393,NM_173544.4,c.502C>T,MODERATE,YES,tolerated(0.07),benign(0.245),1;NIBAN3,missense_variant,p.L168F,ENST00000595684,,c.502C>T,MODERATE,,tolerated(0.1),benign(0.148),1;NIBAN3,missense_variant,p.L168F,ENST00000332386,NM_001098524.1,c.502C>T,MODERATE,,deleterious(0.03),benign(0.148),1;NIBAN3,missense_variant,p.L137F,ENST00000601861,NM_001321826.2,c.409C>T,MODERATE,,tolerated(0.07),benign(0.245),1;NIBAN3,missense_variant,p.L137F,ENST00000599124,NM_001363609.1,c.409C>T,MODERATE,,deleterious(0.02),benign(0.148),1;NIBAN3,missense_variant,p.L114F,ENST00000600871,,c.340C>T,MODERATE,,deleterious(0.02),benign(0.238),1;NIBAN3,5_prime_UTR_variant,,ENST00000449408,NM_001321828.1,c.-321C>T,MODIFIER,,,,1;NIBAN3,non_coding_transcript_exon_variant,,ENST00000597887,,n.414C>T,MODIFIER,,,,1;NIBAN3,missense_variant,p.L137F,ENST00000600519,,c.409C>T,MODERATE,,tolerated(0.09),benign(0.049),1;NIBAN3,non_coding_transcript_exon_variant,,ENST00000599819,,n.205C>T,MODIFIER,,,,1","Allele":"T","Gene":"ENSG00000167483","Feature":"ENST00000335393","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"640/2508","CDS_position":"502/2094","Protein_position":"168/697","Amino_acids":"L/F","Codons":"Ctc/Ttc","Existing_variation":"COSV99962608","TRANSCRIPT_STRAND":1,"SYMBOL":"NIBAN3","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:24130","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS12362.1","ENSP":"ENSP00000335040","SWISSPROT":"Q86XR2.118","UNIPARC":"UPI0000246FFF","UNIPROT_ISOFORM":"Q86XR2-1","RefSeq":"NM_173544.4","APPRIS":"A2","SIFT":"tolerated(0.07)","PolyPhen":"benign(0.245)","EXON":"5/16","DOMAINS":"Gene3D:2.30.29.30;PANTHER:PTHR14392;PANTHER:PTHR14392:SF4;SMART:SM00233;Superfamily:SSF50729","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","CONTEXT":"ATGCTCTCTGC","tumor_bam_uuid":"77fda199-7d21-4888-8f90-bc77c68a3fe9","normal_bam_uuid":"f2a81384-12e8-464e-ad56-115f2d5fd938","case_id":"bc4c4079-b449-485d-84e4-a40496e563e8","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"148","Hugo_Symbol":"ALG13","Entrez_Gene_Id":79868,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chrX","Start_Position":111726846,"End_Position":111726846,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"T","Tumor_Sample_Barcode":"TCGA-55-7907-01A-11D-2167-08","Matched_Norm_Sample_Barcode":"TCGA-55-7907-10A-01D-2167-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"0dbafe19-dd11-4a91-b946-ebd346121b64","Matched_Norm_Sample_UUID":"643450d7-0116-4289-a05d-ab41e2d3f5fb","HGVSc":"c.1767G>T","HGVSp":"p.Met589Ile","HGVSp_Short":"p.M589I","Transcript_ID":"ENST00000394780","Exon_Number":"16/27","t_depth":46,"t_ref_count":29,"t_alt_count":17,"n_depth":50,"all_effects":"ALG13,missense_variant,p.M511I,ENST00000610588,NM_001257231.1,c.1533G>T,MODERATE,,tolerated(0.13),benign(0.001),1;ALG13,missense_variant,p.M589I,ENST00000394780,NM_001099922.3&NM_001324292.2,c.1767G>T,MODERATE,YES,tolerated(0.16),benign(0),1;ALG13,missense_variant,p.M485I,ENST00000251943,NM_001257237.1&NM_001324293.1,c.1455G>T,MODERATE,,tolerated(0.13),benign(0.012),1;ALG13,missense_variant,p.M485I,ENST00000621367,NM_001257234.1&NM_001257230.2,c.1455G>T,MODERATE,,tolerated(0.13),benign(0.012),1;ALG13,missense_variant,p.M485I,ENST00000436609,,c.1455G>T,MODERATE,,tolerated(0.13),benign(0.012),1;ALG13,missense_variant,p.M185I,ENST00000623622,,c.555G>T,MODERATE,,tolerated(0.13),benign(0.012),1;ALG13,upstream_gene_variant,,ENST00000460092,,,MODIFIER,,,,1;ALG13,upstream_gene_variant,,ENST00000486578,,,MODIFIER,,,,1;ALG13,downstream_gene_variant,,ENST00000490774,,,MODIFIER,,,,1;ALG13,upstream_gene_variant,,ENST00000635824,,,MODIFIER,,,,1;ALG13,3_prime_UTR_variant,,ENST00000624161,,c.*1531G>T,MODIFIER,,,,1;ALG13,3_prime_UTR_variant,,ENST00000623144,,c.*1736G>T,MODIFIER,,,,1;ALG13,3_prime_UTR_variant,,ENST00000623148,,c.*1677G>T,MODIFIER,,,,1;ALG13,3_prime_UTR_variant,,ENST00000636363,,c.*555G>T,MODIFIER,,,,1;ALG13,3_prime_UTR_variant,,ENST00000495283,,c.*1632G>T,MODIFIER,,,,1;ALG13,3_prime_UTR_variant,,ENST00000470971,,c.*759G>T,MODIFIER,,,,1","Allele":"T","Gene":"ENSG00000101901","Feature":"ENST00000394780","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"1816/4113","CDS_position":"1767/3414","Protein_position":"589/1137","Amino_acids":"M/I","Codons":"atG/atT","Existing_variation":"COSV52643759","TRANSCRIPT_STRAND":1,"SYMBOL":"ALG13","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:30881","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS55477.1","ENSP":"ENSP00000378260","SWISSPROT":"Q9NP73.157","UNIPARC":"UPI0000E5AFF9","UNIPROT_ISOFORM":"Q9NP73-1","RefSeq":"NM_001099922.3;NM_001324292.2","MANE":"NM_001099922.3","APPRIS":"P1","SIFT":"tolerated(0.16)","PolyPhen":"benign(0)","EXON":"16/27","DOMAINS":"PANTHER:PTHR12867;PANTHER:PTHR12867:SF7","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":2,"PHENO":"1","GENE_PHENO":"1","CONTEXT":"AAGATGTTCAA","tumor_bam_uuid":"402faa7d-eda4-4db8-8dd0-cb5270757b13","normal_bam_uuid":"33d8628d-03ec-479a-accc-1870c6141066","case_id":"bf755bc2-b7aa-4c3c-8b3c-58b089b5cab6","COSMIC":"COSM6184547;COSM6184548","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"282","Hugo_Symbol":"PSG11","Entrez_Gene_Id":5680,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr19","Start_Position":43019046,"End_Position":43019046,"Strand":"+","Variant_Classification":"Nonsense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-91-6835-01A-11D-1855-08","Matched_Norm_Sample_Barcode":"TCGA-91-6835-11A-01D-1855-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"8120c5eb-2917-4053-a5e5-aad53ff45da9","Matched_Norm_Sample_UUID":"46fde1ad-2cea-483b-ae64-f1226a732b9a","HGVSc":"c.433G>T","HGVSp":"p.Glu145Ter","HGVSp_Short":"p.E145*","Transcript_ID":"ENST00000320078","Exon_Number":"3/6","t_depth":366,"t_ref_count":332,"t_alt_count":34,"n_depth":336,"all_effects":"PSG11,stop_gained,p.E145*,ENST00000320078,NM_002785.3,c.433G>T,HIGH,YES,,,-1;PSG11,stop_gained,p.E23*,ENST00000403486,NM_001113410.2&NM_203287.2,c.67G>T,HIGH,,,,-1;PSG11,stop_gained,p.E23*,ENST00000306322,,c.67G>T,HIGH,,,,-1;PSG11,intron_variant,,ENST00000598133,,c.431-3001G>T,MODIFIER,,,,-1;PSG11,non_coding_transcript_exon_variant,,ENST00000595312,,n.2G>T,MODIFIER,,,,-1;PSG11,upstream_gene_variant,,ENST00000599976,,,MODIFIER,,,,-1;PSG11,splice_region_variant,,ENST00000593983,,c.*284G>T,LOW,,,,-1;PSG11,splice_region_variant,,ENST00000597093,,n.157G>T,LOW,,,,-1;PSG11,splice_region_variant,,ENST00000488205,,n.169G>T,LOW,,,,-1;PSG11,intron_variant,,ENST00000594655,,n.521-3676G>T,MODIFIER,,,,-1;PSG11,intron_variant,,ENST00000595138,,n.521-3001G>T,MODIFIER,,,,-1;AC004784.1,intron_variant,,ENST00000635495,,n.182+41402C>A,MODIFIER,YES,,,1","Allele":"A","Gene":"ENSG00000243130","Feature":"ENST00000320078","Feature_type":"Transcript","One_Consequence":"stop_gained","Consequence":"stop_gained;splice_region_variant","cDNA_position":"530/1532","CDS_position":"433/1008","Protein_position":"145/335","Amino_acids":"E/*","Codons":"Gag/Tag","Existing_variation":"COSV60454915;COSV60458274","TRANSCRIPT_STRAND":-1,"SYMBOL":"PSG11","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:9516","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS12614.2","ENSP":"ENSP00000319140","SWISSPROT":"Q9UQ72.158","UNIPARC":"UPI000004EE8C","UNIPROT_ISOFORM":"Q9UQ72-1","RefSeq":"NM_002785.3","MANE":"NM_002785.3","APPRIS":"P1","EXON":"3/6","DOMAINS":"PANTHER:PTHR44427:SF17;PANTHER:PTHR44427;Gene3D:2.60.40.10;SMART:SM00409","SOMATIC":"1;1","IMPACT":"HIGH","PICK":1,"VARIANT_CLASS":"SNV","TSL":2,"PHENO":"1;1","CONTEXT":"AGTCTCCACTG","tumor_bam_uuid":"d499da92-dda3-45d5-a0c3-830773495705","normal_bam_uuid":"b662bdf6-57bc-43a1-afae-02b9eb9200bf","case_id":"2f09479f-87fc-4c34-8e2c-333e970a3681","COSMIC":"COSM6085486;COSM6085487","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2"}
{"X1":"106","Hugo_Symbol":"TRHDE","Entrez_Gene_Id":29953,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr12","Start_Position":72618890,"End_Position":72618890,"Strand":"+","Variant_Classification":"Splice_Site","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"T","Tumor_Sample_Barcode":"TCGA-05-4417-01A-22D-1855-08","Matched_Norm_Sample_Barcode":"TCGA-05-4417-10A-01D-1855-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"57e3657d-7a3c-4d80-a2c2-2de0293f5f05","Matched_Norm_Sample_UUID":"f54f5b4b-f15b-4f65-9c0b-c0656d57413b","HGVSc":"c.2187-1G>T","HGVSp_Short":"p.X729_splice","Transcript_ID":"ENST00000261180","t_depth":122,"t_ref_count":93,"t_alt_count":28,"n_depth":98,"all_effects":"TRHDE,splice_acceptor_variant,p.X729_splice,ENST00000261180,NM_013381.3,c.2187-1G>T,HIGH,YES,,,1;TRHDE,splice_acceptor_variant,,ENST00000549138,,n.751-1G>T,HIGH,,,,1;TRHDE,splice_acceptor_variant,,ENST00000549922,,n.218-1G>T,HIGH,,,,1","Allele":"T","Gene":"ENSG00000072657","Feature":"ENST00000261180","Feature_type":"Transcript","One_Consequence":"splice_acceptor_variant","Consequence":"splice_acceptor_variant","Existing_variation":"COSV53831560","TRANSCRIPT_STRAND":1,"SYMBOL":"TRHDE","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:30748","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS9004.1","ENSP":"ENSP00000261180","SWISSPROT":"Q9UKU6.166","UNIPARC":"UPI0000136D52","RefSeq":"NM_013381.3","APPRIS":"P1","INTRON":"12/18","SOMATIC":"1","IMPACT":"HIGH","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","CONTEXT":"CTGTAGGGCTG","tumor_bam_uuid":"f4542405-51b1-48ba-a777-5f80fa456f58","normal_bam_uuid":"51e3289b-d25a-4681-8d52-0084cbde4cdf","case_id":"a244a99a-d7cc-4fb1-bc76-b66886481621","GDC_FILTER":"NonExonic","COSMIC":"COSM6073624","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"8","Hugo_Symbol":"TTN","Entrez_Gene_Id":7273,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr2","Start_Position":178776994,"End_Position":178776994,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-67-3771-01A-01D-1040-01","Matched_Norm_Sample_Barcode":"TCGA-67-3771-10A-01D-1040-01","Mutation_Status":"Somatic","Tumor_Sample_UUID":"a715d783-38f1-4f6d-991b-983fb907cc9f","Matched_Norm_Sample_UUID":"24f1a1ea-733d-45b3-a51b-073807143f78","HGVSc":"c.4870G>T","HGVSp":"p.Asp1624Tyr","HGVSp_Short":"p.D1624Y","Transcript_ID":"ENST00000591111","Exon_Number":"28/313","t_depth":63,"t_ref_count":36,"t_alt_count":26,"n_depth":86,"all_effects":"TTN,missense_variant,p.D1624Y,ENST00000589042,NM_001267550.2,c.4870G>T,MODERATE,YES,,probably_damaging(0.999),-1;TTN,missense_variant,p.D1624Y,ENST00000591111,,c.4870G>T,MODERATE,,,probably_damaging(0.999),-1;TTN,missense_variant,p.D1624Y,ENST00000342992,NM_133378.4&NM_001256850.1,c.4870G>T,MODERATE,,,probably_damaging(1),-1;TTN,missense_variant,p.D1578Y,ENST00000460472,NM_003319.4,c.4732G>T,MODERATE,,,probably_damaging(1),-1;TTN,missense_variant,p.D1578Y,ENST00000342175,NM_133437.4,c.4732G>T,MODERATE,,,,-1;TTN,missense_variant,p.D1578Y,ENST00000359218,NM_133432.3,c.4732G>T,MODERATE,,,probably_damaging(1),-1;TTN,missense_variant,p.D1624Y,ENST00000360870,NM_133379.5,c.4870G>T,MODERATE,,deleterious(0),probably_damaging(1),-1;TTN-AS1,non_coding_transcript_exon_variant,,ENST00000659121,,n.4421C>A,MODIFIER,YES,,,1;TTN-AS1,non_coding_transcript_exon_variant,,ENST00000582038,,n.69C>A,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000590773,,n.2258-1718C>A,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000629094,,n.289-864C>A,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000657023,,n.1484-864C>A,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000663178,,n.854+2479C>A,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000664776,,n.1274-864C>A,MODIFIER,,,,1;TTN-AS1,downstream_gene_variant,,ENST00000584485,,,MODIFIER,,,,1;TTN-AS1,downstream_gene_variant,,ENST00000585451,,,MODIFIER,,,,1;TTN-AS1,downstream_gene_variant,,ENST00000610005,,,MODIFIER,,,,1;TTN-AS1,downstream_gene_variant,,ENST00000653807,,,MODIFIER,,,,1;TTN-AS1,downstream_gene_variant,,ENST00000657818,,,MODIFIER,,,,1","Allele":"A","Gene":"ENSG00000155657","Feature":"ENST00000591111","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"5095/104301","CDS_position":"4870/103053","Protein_position":"1624/34350","Amino_acids":"D/Y","Codons":"Gat/Tat","Existing_variation":"COSV59940319","TRANSCRIPT_STRAND":-1,"SYMBOL":"TTN","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:12403","BIOTYPE":"protein_coding","ENSP":"ENSP00000465570","SWISSPROT":"Q8WZ42.192","UNIPARC":"UPI00025287CD","UNIPROT_ISOFORM":"Q8WZ42-1","PolyPhen":"probably_damaging(0.999)","EXON":"28/313","DOMAINS":"Gene3D:2.60.40.10;Pfam:PF07679;PROSITE_profiles:PS50835;PANTHER:PTHR13817;PANTHER:PTHR13817:SF10;SMART:SM00408;SMART:SM00409;Superfamily:SSF48726;CDD:cd00096","SOMATIC":"1","IMPACT":"MODERATE","VARIANT_CLASS":"SNV","TSL":5,"PHENO":"1","GENE_PHENO":"1","CONTEXT":"AGAATCTTGGC","tumor_bam_uuid":"b6949627-30cb-4064-b3a6-98864606d2dc","normal_bam_uuid":"930b209a-4ff6-4e76-a78d-fcba988e7330","case_id":"0df573ee-28f0-4244-b434-09e6ca59fbf0","COSMIC":"COSM6089217;COSM6089218;COSM6089219;COSM6089220;COSM6089222","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"98","Hugo_Symbol":"FAM227B","Entrez_Gene_Id":196951,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr15","Start_Position":49508336,"End_Position":49508336,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"T","Tumor_Seq_Allele1":"T","Tumor_Seq_Allele2":"C","Tumor_Sample_Barcode":"TCGA-50-5045-01A-01D-1625-08","Matched_Norm_Sample_Barcode":"TCGA-50-5045-10A-01D-1625-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"b0d734ad-1222-4bc0-b02b-1d2262b8ac35","Matched_Norm_Sample_UUID":"f2944e7d-f761-45af-b625-1100fdc393d1","HGVSc":"c.887A>G","HGVSp":"p.Gln296Arg","HGVSp_Short":"p.Q296R","Transcript_ID":"ENST00000299338","Exon_Number":"11/16","t_depth":74,"t_ref_count":65,"t_alt_count":9,"n_depth":87,"all_effects":"FAM227B,missense_variant,p.Q296R,ENST00000299338,NM_152647.3,c.887A>G,MODERATE,YES,tolerated(0.49),benign(0.014),-1;FAM227B,missense_variant,p.Q262R,ENST00000561064,NM_001330293.2,c.785A>G,MODERATE,,tolerated(0.42),benign(0.001),-1;FAM227B,upstream_gene_variant,,ENST00000559351,,,MODIFIER,,,,-1","Allele":"C","Gene":"ENSG00000166262","Feature":"ENST00000299338","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"1078/3316","CDS_position":"887/1527","Protein_position":"296/508","Amino_acids":"Q/R","Codons":"cAa/cGa","Existing_variation":"COSV54810221","TRANSCRIPT_STRAND":-1,"SYMBOL":"FAM227B","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:26543","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS32237.1","ENSP":"ENSP00000299338","SWISSPROT":"Q96M60.117","UNIPARC":"UPI0000D6133A","UNIPROT_ISOFORM":"Q96M60-1","RefSeq":"NM_152647.3","MANE":"NM_152647.3","APPRIS":"P1","SIFT":"tolerated(0.49)","PolyPhen":"benign(0.014)","EXON":"11/16","DOMAINS":"PANTHER:PTHR33560;PANTHER:PTHR33560:SF2;Pfam:PF14922","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":2,"PHENO":"1","CONTEXT":"CTTTTTGAGGT","tumor_bam_uuid":"30d5a807-cae7-4d77-a199-c9291440db45","normal_bam_uuid":"6a23ddc0-60a5-46bc-9be3-c8407804475a","case_id":"9ee20c0d-a1c3-47f3-abda-131b3f190f52","COSMIC":"COSM6077331","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"126","Hugo_Symbol":"UGT1A6","Entrez_Gene_Id":54578,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr2","Start_Position":233743808,"End_Position":233743808,"Strand":"+","Variant_Classification":"Intron","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-69-7980-01A-11D-2184-08","Matched_Norm_Sample_Barcode":"TCGA-69-7980-10A-01D-2184-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"125eda94-46ba-467b-93a5-909b1084136d","Matched_Norm_Sample_UUID":"ff44cf5d-e9bb-4f79-82b0-056824e2d6b5","HGVSc":"c.862-23226C>A","Transcript_ID":"ENST00000305139","t_depth":176,"t_ref_count":146,"t_alt_count":30,"n_depth":232,"all_effects":"UGT1A6,intron_variant,,ENST00000305139,NM_001072.4,c.862-23226C>A,MODIFIER,YES,,,1;UGT1A10,intron_variant,,ENST00000344644,NM_019075.2,c.856-23226C>A,MODIFIER,YES,,,1;UGT1A9,intron_variant,,ENST00000354728,NM_021027.3,c.856-23226C>A,MODIFIER,YES,,,1;UGT1A4,intron_variant,,ENST00000373409,NM_007120.3,c.868-23226C>A,MODIFIER,YES,,,1;UGT1A5,intron_variant,,ENST00000373414,NM_019078.1,c.868-23226C>A,MODIFIER,YES,,,1;UGT1A6,intron_variant,,ENST00000373424,NM_205862.2,c.61-23226C>A,MODIFIER,,,,1;UGT1A7,intron_variant,,ENST00000373426,NM_019077.2,c.856-23226C>A,MODIFIER,YES,,,1;UGT1A10,intron_variant,,ENST00000373445,,c.856-23226C>A,MODIFIER,,,,1;UGT1A8,intron_variant,,ENST00000373450,NM_019076.4,c.856-23226C>A,MODIFIER,YES,,,1;UGT1A6,intron_variant,,ENST00000406651,,c.61-23226C>A,MODIFIER,,,,1;UGT1A3,intron_variant,,ENST00000482026,NM_019093.4,c.867+13815C>A,MODIFIER,YES,,,1;DNAJB3,non_coding_transcript_exon_variant,,ENST00000449667,NM_001001394.4,n.208G>T,MODIFIER,YES,,,-1;UGT1A6,intron_variant,,ENST00000480628,,n.187-10882C>A,MODIFIER,,,,1;UGT1A6,intron_variant,,ENST00000446481,,c.61-23226C>A,MODIFIER,,,,1;UGT1A4,intron_variant,,ENST00000450233,,c.868-23226C>A,MODIFIER,,,,1;UGT1A6,intron_variant,,ENST00000484784,,c.*238-23226C>A,MODIFIER,,,,1;DNAJB3,non_coding_transcript_exon_variant,,ENST00000446806,,n.109G>T,MODIFIER,,,,-1;UGT1A2P,upstream_gene_variant,,ENST00000454886,,,MODIFIER,YES,,,1;AC114812.3,downstream_gene_variant,,ENST00000509542,,,MODIFIER,YES,,,1","Allele":"A","Gene":"ENSG00000167165","Feature":"ENST00000305139","Feature_type":"Transcript","One_Consequence":"intron_variant","Consequence":"intron_variant","Existing_variation":"COSV59395663","TRANSCRIPT_STRAND":1,"SYMBOL":"UGT1A6","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:12538","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS2507.1","ENSP":"ENSP00000303174","SWISSPROT":"P19224.186","TREMBL":"Q5DSZ8.119","UNIPARC":"UPI000007021F","UNIPROT_ISOFORM":"P19224-1","RefSeq":"NM_001072.4","MANE":"NM_001072.4","APPRIS":"P1","INTRON":"1/4","SOMATIC":"1","IMPACT":"MODIFIER","VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","CONTEXT":"GTTCTCAGGGT","tumor_bam_uuid":"84685ecc-531d-4c12-9193-5442b8e30b14","normal_bam_uuid":"7497093e-bfce-4aea-a545-12309b3f519c","case_id":"aee86a89-0377-4080-b16c-408bfbe78687","COSMIC":"COSN24410811","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"475","Hugo_Symbol":"KCNH5","Entrez_Gene_Id":27133,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr14","Start_Position":62707686,"End_Position":62707686,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"T","dbSNP_RS":"rs562140660","Tumor_Sample_Barcode":"TCGA-05-4427-01A-21D-1855-08","Matched_Norm_Sample_Barcode":"TCGA-05-4427-10A-01D-1855-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"736e0134-8b1a-4ff1-9106-ca09c9812ef6","Matched_Norm_Sample_UUID":"486af110-e61e-4e67-b5fa-f0eef31227cb","HGVSc":"c.2789C>A","HGVSp":"p.Ala930Asp","HGVSp_Short":"p.A930D","Transcript_ID":"ENST00000322893","Exon_Number":"11/11","t_depth":175,"t_ref_count":133,"t_alt_count":42,"n_depth":244,"all_effects":"KCNH5,missense_variant,p.A930D,ENST00000322893,NM_139318.5,c.2789C>A,MODERATE,YES,tolerated_low_confidence(0.63),benign(0.042),-1;KCNH5,3_prime_UTR_variant,,ENST00000420622,NM_172375.3,c.*756C>A,MODIFIER,,,,-1;KCNH5,downstream_gene_variant,,ENST00000394968,,,MODIFIER,,,,-1","Allele":"T","Gene":"ENSG00000140015","Feature":"ENST00000322893","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"3061/11283","CDS_position":"2789/2967","Protein_position":"930/988","Amino_acids":"A/D","Codons":"gCc/gAc","Existing_variation":"rs562140660;COSV59764404","TRANSCRIPT_STRAND":-1,"SYMBOL":"KCNH5","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:6254","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS9756.1","ENSP":"ENSP00000321427","SWISSPROT":"Q8NCM2.170","UNIPARC":"UPI0000039E2D","UNIPROT_ISOFORM":"Q8NCM2-1","RefSeq":"NM_139318.5","MANE":"NM_139318.5","APPRIS":"P1","SIFT":"tolerated_low_confidence(0.63)","PolyPhen":"benign(0.042)","EXON":"11/11","DOMAINS":"Coiled-coils_(Ncoils):Coil;PANTHER:PTHR10217;PANTHER:PTHR10217:SF533","gnomAD_AF":"7.659e-05","gnomAD_AFR_AF":"0","gnomAD_AMR_AF":"0","gnomAD_ASJ_AF":"0","gnomAD_EAS_AF":"0","gnomAD_FIN_AF":"0","gnomAD_NFE_AF":"0","gnomAD_OTH_AF":"0","gnomAD_SAS_AF":"0.0006322","MAX_AF":"0.0006322","MAX_AF_POPS":"gnomAD_SAS","SOMATIC":"0;1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"0;1","GENE_PHENO":"1","CONTEXT":"CTAGGGCAGTC","tumor_bam_uuid":"db10f9f9-4375-4197-a905-692f64066021","normal_bam_uuid":"b3aca9b1-aee3-4a6c-b1b5-3216a736f741","case_id":"78a24c56-576c-4245-bb42-6603b3d19897","COSMIC":"COSM6075991","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"444","Hugo_Symbol":"TAS2R41","Entrez_Gene_Id":259287,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr7","Start_Position":143478341,"End_Position":143478341,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"G","dbSNP_RS":"rs377524079","Tumor_Sample_Barcode":"TCGA-55-7914-01A-11D-2167-08","Matched_Norm_Sample_Barcode":"TCGA-55-7914-10A-01D-2167-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"59bffff6-361e-4517-b620-42bb23398b5c","Matched_Norm_Sample_UUID":"7fc655ab-9a59-4b5b-9b79-a38e3138445d","HGVSc":"c.469C>G","HGVSp":"p.Gln157Glu","HGVSp_Short":"p.Q157E","Transcript_ID":"ENST00000408916","Exon_Number":"1/1","t_depth":60,"t_ref_count":47,"t_alt_count":13,"n_depth":17,"all_effects":"TAS2R41,missense_variant,p.Q157E,ENST00000408916,NM_176883.2,c.469C>G,MODERATE,YES,tolerated(0.06),benign(0.392),1;EPHA1-AS1,intron_variant,,ENST00000429289,,n.207-26433C>G,MODIFIER,YES,,,1","Allele":"G","Gene":"ENSG00000221855","Feature":"ENST00000408916","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"469/924","CDS_position":"469/924","Protein_position":"157/307","Amino_acids":"Q/E","Codons":"Caa/Gaa","Existing_variation":"rs377524079;COSV68765154","TRANSCRIPT_STRAND":1,"SYMBOL":"TAS2R41","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:18883","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS43663.1","ENSP":"ENSP00000386201","SWISSPROT":"P59536.124","UNIPARC":"UPI000000D823","RefSeq":"NM_176883.2","MANE":"NM_176883.2","APPRIS":"P1","SIFT":"tolerated(0.06)","PolyPhen":"benign(0.392)","EXON":"1/1","DOMAINS":"CDD:cd15018;PANTHER:PTHR11394;PANTHER:PTHR11394:SF73;Pfam:PF05296;Gene3D:1.20.1070.10;Superfamily:SSF81321","ESP_AA_AF":"0","ESP_EA_AF":"0.0001225","MAX_AF":"0.0001225","MAX_AF_POPS":"EA","SOMATIC":"0;1","IMPACT":"MODERATE","VARIANT_CLASS":"SNV","PHENO":"0;1","CONTEXT":"TATATCAAGAA","tumor_bam_uuid":"468df3b9-0d99-4506-a6f4-6471448c3b20","normal_bam_uuid":"68b4177d-e7bf-4d27-ab57-be7296ff8e09","case_id":"69dba721-a168-47a4-b7ff-80a448bad654","COSMIC":"COSM6176841","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"203","Hugo_Symbol":"ABCC12","Entrez_Gene_Id":94160,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr16","Start_Position":48108499,"End_Position":48108499,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"T","dbSNP_RS":"rs1446720631","Tumor_Sample_Barcode":"TCGA-55-7570-01A-11D-2036-08","Matched_Norm_Sample_Barcode":"TCGA-55-7570-10A-01D-2036-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"d11ba541-725c-4e08-8572-8e4115f562f5","Matched_Norm_Sample_UUID":"f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5","HGVSc":"c.2312C>A","HGVSp":"p.Ser771Tyr","HGVSp_Short":"p.S771Y","Transcript_ID":"ENST00000311303","Exon_Number":"17/29","t_depth":70,"t_ref_count":52,"t_alt_count":18,"n_depth":70,"all_effects":"ABCC12,missense_variant,p.S771Y,ENST00000311303,NM_033226.2,c.2312C>A,MODERATE,YES,deleterious(0.04),benign(0.285),-1;ABCC12,missense_variant,p.S689Y,ENST00000534418,,c.2066C>A,MODERATE,,deleterious(0.01),possibly_damaging(0.694),-1;ABCC12,missense_variant,p.S768Y,ENST00000497206,,c.2303C>A,MODERATE,,deleterious(0.01),possibly_damaging(0.579),-1;ABCC12,missense_variant,p.S768Y,ENST00000532494,,c.2303C>A,MODERATE,,deleterious(0.01),possibly_damaging(0.579),-1;ABCC12,missense_variant,p.S768Y,ENST00000529504,,c.2303C>A,MODERATE,,deleterious(0.04),possibly_damaging(0.694),-1;ABCC12,3_prime_UTR_variant,,ENST00000529084,,c.*328C>A,MODIFIER,,,,-1;ABCC12,downstream_gene_variant,,ENST00000533185,,,MODIFIER,,,,-1","Allele":"T","Gene":"ENSG00000140798","Feature":"ENST00000311303","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"2658/5168","CDS_position":"2312/4080","Protein_position":"771/1359","Amino_acids":"S/Y","Codons":"tCc/tAc","Existing_variation":"rs1446720631;COSV60914321","TRANSCRIPT_STRAND":-1,"SYMBOL":"ABCC12","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:14640","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS10730.1","ENSP":"ENSP00000311030","SWISSPROT":"Q96J65.145","UNIPARC":"UPI0000456987","UNIPROT_ISOFORM":"Q96J65-1","RefSeq":"NM_033226.2","APPRIS":"P1","SIFT":"deleterious(0.04)","PolyPhen":"benign(0.285)","EXON":"17/29","DOMAINS":"PANTHER:PTHR24223:SF10;PANTHER:PTHR24223;Gene3D:1.20.1560.10","gnomAD_non_cancer_AF":"6.76095987728331e-06","gnomAD_non_cancer_AFR_AF":"0","gnomAD_non_cancer_AMI_AF":"0","gnomAD_non_cancer_AMR_AF":"0","gnomAD_non_cancer_ASJ_AF":"0","gnomAD_non_cancer_EAS_AF":"0","gnomAD_non_cancer_FIN_AF":"0","gnomAD_non_cancer_MID_AF":"0","gnomAD_non_cancer_NFE_AF":"1.54326007759664e-05","gnomAD_non_cancer_OTH_AF":"0","gnomAD_non_cancer_SAS_AF":"0","SOMATIC":"0;1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"0;1","CONTEXT":"GGGGGGATTCA","tumor_bam_uuid":"b8a9a2aa-801b-4d1b-9420-a26ce0b5c46a","normal_bam_uuid":"0c55619c-fc4d-421a-86d0-be2870a5c4ad","case_id":"ff07ea4b-4e50-410d-99d6-96a351dad7b1","COSMIC":"COSM1519147","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"180","Hugo_Symbol":"CEP128","Entrez_Gene_Id":145508,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr14","Start_Position":80785351,"End_Position":80785351,"Strand":"+","Variant_Classification":"Silent","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"A","dbSNP_RS":"rs1566624516","Tumor_Sample_Barcode":"TCGA-49-AARE-01A-11D-A410-08","Matched_Norm_Sample_Barcode":"TCGA-49-AARE-11A-11D-A413-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"9b725f16-ec63-4c7e-8ef1-4306c0b90a5e","Matched_Norm_Sample_UUID":"1531afeb-48e8-4d5f-8ec1-7a3c28cabe34","HGVSc":"c.1755G>T","HGVSp":"p.Leu585=","HGVSp_Short":"p.L585=","Transcript_ID":"ENST00000281129","Exon_Number":"14/24","t_depth":83,"t_ref_count":63,"t_alt_count":20,"n_depth":103,"all_effects":"CEP128,synonymous_variant,p.L585=,ENST00000555265,NM_152446.5,c.1755G>T,LOW,YES,,,-1;CEP128,synonymous_variant,p.L585=,ENST00000281129,,c.1755G>T,LOW,,,,-1;CEP128,synonymous_variant,p.L277=,ENST00000554502,,c.831G>T,LOW,,,,-1","Allele":"A","Gene":"ENSG00000100629","Feature":"ENST00000281129","Feature_type":"Transcript","One_Consequence":"synonymous_variant","Consequence":"synonymous_variant","cDNA_position":"1926/4461","CDS_position":"1755/3285","Protein_position":"585/1094","Amino_acids":"L","Codons":"ctG/ctT","Existing_variation":"rs1566624516;COSV55388352","TRANSCRIPT_STRAND":-1,"SYMBOL":"CEP128","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:20359","BIOTYPE":"protein_coding","CCDS":"CCDS32130.1","ENSP":"ENSP00000281129","SWISSPROT":"Q6ZU80.125","UNIPARC":"UPI000022982E","UNIPROT_ISOFORM":"Q6ZU80-2","APPRIS":"P4","EXON":"14/24","DOMAINS":"Coiled-coils_(Ncoils):Coil;PANTHER:PTHR46657","gnomAD_AF":"3.979e-06","gnomAD_AFR_AF":"0","gnomAD_AMR_AF":"0","gnomAD_ASJ_AF":"0","gnomAD_EAS_AF":"0","gnomAD_FIN_AF":"4.621e-05","gnomAD_NFE_AF":"0","gnomAD_OTH_AF":"0","gnomAD_SAS_AF":"0","MAX_AF":"4.621e-05","MAX_AF_POPS":"gnomAD_FIN","SOMATIC":"0;1","IMPACT":"LOW","VARIANT_CLASS":"SNV","TSL":1,"PHENO":"0;1","CONTEXT":"GTATCCAGGGA","tumor_bam_uuid":"bcf6bb91-301c-4bcf-83ad-61c344f03352","normal_bam_uuid":"b9e06873-1fd4-4bad-a5c3-cd0b5c25e26b","case_id":"cd9e70e4-8622-4a07-8646-63f8275c1737","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"191","Hugo_Symbol":"ALB","Entrez_Gene_Id":213,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr4","Start_Position":73412011,"End_Position":73412011,"Strand":"+","Variant_Classification":"Silent","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"C","Tumor_Sample_Barcode":"TCGA-55-1595-01A-01D-0969-08","Matched_Norm_Sample_Barcode":"TCGA-55-1595-11A-01D-0969-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"f1be8e08-5201-49bb-abf7-cedc0eff06d6","Matched_Norm_Sample_UUID":"ac9e4488-8a5a-4961-b466-4e5c6647800c","HGVSc":"c.729G>C","HGVSp":"p.Leu243=","HGVSp_Short":"p.L243=","Transcript_ID":"ENST00000295897","Exon_Number":"7/15","t_depth":97,"t_ref_count":83,"t_alt_count":14,"n_depth":225,"all_effects":"ALB,synonymous_variant,p.L243=,ENST00000295897,NM_000477.7,c.729G>C,LOW,YES,,,1;ALB,synonymous_variant,p.L243=,ENST00000509063,,c.729G>C,LOW,,,,1;ALB,synonymous_variant,p.L93=,ENST00000503124,,c.279G>C,LOW,,,,1;ALB,synonymous_variant,p.L128=,ENST00000401494,,c.384G>C,LOW,,,,1;ALB,synonymous_variant,p.L88=,ENST00000511370,,c.264G>C,LOW,,,,1;ALB,synonymous_variant,p.L51=,ENST00000415165,,c.153G>C,LOW,,,,1;ALB,intron_variant,,ENST00000621085,,c.490+2649G>C,MODIFIER,,,,1;ALB,intron_variant,,ENST00000621628,,c.486+2935G>C,MODIFIER,,,,1;ALB,downstream_gene_variant,,ENST00000441319,,,MODIFIER,,,,1;ALB,non_coding_transcript_exon_variant,,ENST00000505649,,n.415G>C,MODIFIER,,,,1;ALB,downstream_gene_variant,,ENST00000510166,,,MODIFIER,,,,1;ALB,downstream_gene_variant,,ENST00000514786,,,MODIFIER,,,,1;ALB,3_prime_UTR_variant,,ENST00000476441,,c.*8G>C,MODIFIER,,,,1;ALB,non_coding_transcript_exon_variant,,ENST00000507673,,n.46G>C,MODIFIER,,,,1;ALB,upstream_gene_variant,,ENST00000484992,,,MODIFIER,,,,1;ALB,upstream_gene_variant,,ENST00000504043,,,MODIFIER,,,,1;ALB,downstream_gene_variant,,ENST00000515133,,,MODIFIER,,,,1","Allele":"C","Gene":"ENSG00000163631","Feature":"ENST00000295897","Feature_type":"Transcript","One_Consequence":"synonymous_variant","Consequence":"synonymous_variant","cDNA_position":"770/2285","CDS_position":"729/1830","Protein_position":"243/609","Amino_acids":"L","Codons":"ctG/ctC","Existing_variation":"COSV55736846","TRANSCRIPT_STRAND":1,"SYMBOL":"ALB","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:399","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS3555.1","ENSP":"ENSP00000295897","SWISSPROT":"P02768.268","UNIPARC":"UPI000002C1AC","UNIPROT_ISOFORM":"P02768-1","RefSeq":"NM_000477.7","MANE":"NM_000477.7","APPRIS":"P2","EXON":"7/15","DOMAINS":"Gene3D:1.10.246.10;PDB-ENSP_mappings:1ao6.A;PDB-ENSP_mappings:1ao6.B;PDB-ENSP_mappings:1bj5.A;PDB-ENSP_mappings:1bke.A;PDB-ENSP_mappings:1bm0.A;PDB-ENSP_mappings:1bm0.B;PDB-ENSP_mappings:1e78.A;PDB-ENSP_mappings:1e78.B;PDB-ENSP_mappings:1e7a.A;PDB-ENSP_mappings:1e7a.B;PDB-ENSP_mappings:1e7b.A;PDB-ENSP_mappings:1e7b.B;PDB-ENSP_mappings:1e7c.A;PDB-ENSP_mappings:1e7e.A;PDB-ENSP_mappings:1e7f.A;PDB-ENSP_mappings:1e7g.A;PDB-ENSP_mappings:1e7h.A;PDB-ENSP_mappings:1e7i.A;PDB-ENSP_mappings:1gni.A;PDB-ENSP_mappings:1gnj.A;PDB-ENSP_mappings:1h9z.A;PDB-ENSP_mappings:1ha2.A;PDB-ENSP_mappings:1hk1.A;PDB-ENSP_mappings:1hk2.A;PDB-ENSP_mappings:1hk3.A;PDB-ENSP_mappings:1hk4.A;PDB-ENSP_mappings:1hk5.A;PDB-ENSP_mappings:1n5u.A;PDB-ENSP_mappings:1o9x.A;PDB-ENSP_mappings:1tf0.A;PDB-ENSP_mappings:1uor.A;PDB-ENSP_mappings:2bx8.A;PDB-ENSP_mappings:2bx8.B;PDB-ENSP_mappings:2bxa.A;PDB-ENSP_mappings:2bxa.B;PDB-ENSP_mappings:2bxb.A;PDB-ENSP_mappings:2bxb.B;PDB-ENSP_mappings:2bxc.A;PDB-ENSP_mappings:2bxc.B;PDB-ENSP_mappings:2bxd.A;PDB-ENSP_mappings:2bxd.B;PDB-ENSP_mappings:2bxe.A;PDB-ENSP_mappings:2bxe.B;PDB-ENSP_mappings:2bxf.A;PDB-ENSP_mappings:2bxf.B;PDB-ENSP_mappings:2bxg.A;PDB-ENSP_mappings:2bxg.B;PDB-ENSP_mappings:2bxh.A;PDB-ENSP_mappings:2bxh.B;PDB-ENSP_mappings:2bxi.A;PDB-ENSP_mappings:2bxk.A;PDB-ENSP_mappings:2bxl.A;PDB-ENSP_mappings:2bxm.A;PDB-ENSP_mappings:2bxn.A;PDB-ENSP_mappings:2bxo.A;PDB-ENSP_mappings:2bxp.A;PDB-ENSP_mappings:2bxq.A;PDB-ENSP_mappings:2esg.C;PDB-ENSP_mappings:2i2z.A;PDB-ENSP_mappings:2i30.A;PDB-ENSP_mappings:2vdb.A;PDB-ENSP_mappings:2vue.A;PDB-ENSP_mappings:2vue.B;PDB-ENSP_mappings:2vuf.A;PDB-ENSP_mappings:2vuf.B;PDB-ENSP_mappings:2xsi.A;PDB-ENSP_mappings:2xvq.A;PDB-ENSP_mappings:2xvq.B;PDB-ENSP_mappings:2xvu.A;PDB-ENSP_mappings:2xvu.B;PDB-ENSP_mappings:2xvv.A;PDB-ENSP_mappings:2xvw.A;PDB-ENSP_mappings:2xw0.A;PDB-ENSP_mappings:2xw0.B;PDB-ENSP_mappings:2xw1.A;PDB-ENSP_mappings:2xw1.B;PDB-ENSP_mappings:2ydf.A;PDB-ENSP_mappings:2ydf.B;PDB-ENSP_mappings:3a73.A;PDB-ENSP_mappings:3a73.B;PDB-ENSP_mappings:3b9l.A;PDB-ENSP_mappings:3b9m.A;PDB-ENSP_mappings:3cx9.A;PDB-ENSP_mappings:3jqz.A;PDB-ENSP_mappings:3jqz.B;PDB-ENSP_mappings:3jry.A;PDB-ENSP_mappings:3jry.B;PDB-ENSP_mappings:3lu6.A;PDB-ENSP_mappings:3lu6.B;PDB-ENSP_mappings:3lu7.A;PDB-ENSP_mappings:3lu7.B;PDB-ENSP_mappings:3lu8.A;PDB-ENSP_mappings:3lu8.B;PDB-ENSP_mappings:3sqj.A;PDB-ENSP_mappings:3sqj.B;PDB-ENSP_mappings:3tdl.A;PDB-ENSP_mappings:3uiv.A;PDB-ENSP_mapping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{"X1":"186","Hugo_Symbol":"PCDHGA1","Entrez_Gene_Id":56114,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr5","Start_Position":141330872,"End_Position":141330872,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"T","Tumor_Sample_Barcode":"TCGA-05-4415-01A-22D-1855-08","Matched_Norm_Sample_Barcode":"TCGA-05-4415-10A-01D-1855-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"128f52c7-49dc-4a9f-a5bc-1c14684edc9c","Matched_Norm_Sample_UUID":"1339361e-fe70-4584-a7cd-946ccd8476bc","HGVSc":"c.188G>T","HGVSp":"p.Gly63Val","HGVSp_Short":"p.G63V","Transcript_ID":"ENST00000517417","Exon_Number":"1/4","t_depth":173,"t_ref_count":103,"t_alt_count":70,"n_depth":167,"all_effects":"PCDHGA1,missense_variant,p.G63V,ENST00000517417,NM_018912.2,c.188G>T,MODERATE,YES,deleterious_low_confidence(0),probably_damaging(0.974),1;PCDHGA1,missense_variant,p.G63V,ENST00000378105,NM_031993.1,c.188G>T,MODERATE,,deleterious_low_confidence(0),probably_damaging(0.915),1;AC005618.1,downstream_gene_variant,,ENST00000606674,,,MODIFIER,,,,1;AC005618.1,downstream_gene_variant,,ENST00000606901,,,MODIFIER,YES,,,1;AC005618.4,downstream_gene_variant,,ENST00000670972,,,MODIFIER,YES,,,1","Allele":"T","Gene":"ENSG00000204956","Feature":"ENST00000517417","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"188/4604","CDS_position":"188/2796","Protein_position":"63/931","Amino_acids":"G/V","Codons":"gGa/gTa","Existing_variation":"COSV65295881","TRANSCRIPT_STRAND":1,"SYMBOL":"PCDHGA1","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:8696","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS54922.1","ENSP":"ENSP00000431083","SWISSPROT":"Q9Y5H4.160","UNIPARC":"UPI0000070596","UNIPROT_ISOFORM":"Q9Y5H4-1","RefSeq":"NM_018912.2","APPRIS":"P1","SIFT":"deleterious_low_confidence(0)","PolyPhen":"probably_damaging(0.974)","EXON":"1/4","DOMAINS":"Gene3D:2.60.40.60;Pfam:PF08266;PANTHER:PTHR24028;PANTHER:PTHR24028:SF108;SMART:SM00112;Superfamily:SSF49313;CDD:cd11304","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","CONTEXT":"TGGCGGAGTCC","tumor_bam_uuid":"357c4420-3d7f-47ee-8eff-16d4d5cbd6c5","normal_bam_uuid":"72453bbe-e68f-45b2-9505-f39144709158","case_id":"d15b7b29-c5c5-41d8-b83b-7cc12fe92820","COSMIC":"COSM6102273;COSM6102274","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"381","Hugo_Symbol":"ZNF648","Entrez_Gene_Id":127665,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr1","Start_Position":182057635,"End_Position":182057635,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"T","dbSNP_RS":"rs1272215026","Tumor_Sample_Barcode":"TCGA-49-AARO-01A-12D-A410-08","Matched_Norm_Sample_Barcode":"TCGA-49-AARO-11A-11D-A413-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"c091727f-e245-4d6f-9556-359c854fd0cf","Matched_Norm_Sample_UUID":"679ce3c9-707f-4028-b02c-c5bca01884e7","HGVSc":"c.376C>A","HGVSp":"p.Leu126Ile","HGVSp_Short":"p.L126I","Transcript_ID":"ENST00000339948","Exon_Number":"2/2","t_depth":51,"t_ref_count":42,"t_alt_count":9,"n_depth":68,"all_effects":"ZNF648,missense_variant,p.L126I,ENST00000339948,NM_001009992.1,c.376C>A,MODERATE,YES,tolerated(0.06),benign(0.178),-1;ZNF648,intron_variant,,ENST00000673963,,c.27-206C>A,MODIFIER,,,,-1","Allele":"T","Gene":"ENSG00000179930","Feature":"ENST00000339948","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"584/3649","CDS_position":"376/1707","Protein_position":"126/568","Amino_acids":"L/I","Codons":"Ctt/Att","Existing_variation":"rs1272215026;COSV100374415","TRANSCRIPT_STRAND":-1,"SYMBOL":"ZNF648","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:18190","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS30952.1","ENSP":"ENSP00000344129","SWISSPROT":"Q5T619.133","UNIPARC":"UPI0000161414","RefSeq":"NM_001009992.1","MANE":"NM_001009992.1","APPRIS":"P4","SIFT":"tolerated(0.06)","PolyPhen":"benign(0.178)","EXON":"2/2","DOMAINS":"PANTHER:PTHR24399;PANTHER:PTHR24399:SF11","gnomAD_AF":"0","gnomAD_AFR_AF":"0","gnomAD_AMR_AF":"0","gnomAD_ASJ_AF":"0","gnomAD_EAS_AF":"0","gnomAD_FIN_AF":"0","gnomAD_NFE_AF":"0","gnomAD_OTH_AF":"0","gnomAD_SAS_AF":"0","MAX_AF":"0","MAX_AF_POPS":"gnomAD_AFR;gnomAD_AMR;gnomAD_ASJ;gnomAD_EAS;gnomAD_FIN;gnomAD_NFE;gnomAD_OTH;gnomAD_SAS","SOMATIC":"0;1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"0;1","CONTEXT":"GGGAAGGGAAC","tumor_bam_uuid":"9f006b16-1c84-465b-8b21-abcdd0b6fdd3","normal_bam_uuid":"42fb0fa1-98f5-47bb-8b9f-1686122f37e7","case_id":"5202458b-c38a-47c0-a0ba-5f1a59a762a0","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"56","Hugo_Symbol":"TP63","Entrez_Gene_Id":8626,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr3","Start_Position":189808426,"End_Position":189808426,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"G","Tumor_Sample_Barcode":"TCGA-17-Z026-01A-01W-0746-08","Matched_Norm_Sample_Barcode":"TCGA-17-Z026-11A-01W-0746-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"bb048ffc-de00-4706-85bb-d052c0fb6496","Matched_Norm_Sample_UUID":"f1c94247-89eb-4b5a-abc6-8c01571695bc","HGVSc":"c.479C>G","HGVSp":"p.Ser160Cys","HGVSp_Short":"p.S160C","Transcript_ID":"ENST00000264731","Exon_Number":"4/14","t_depth":58,"t_ref_count":53,"t_alt_count":5,"n_depth":58,"all_effects":"TP63,missense_variant,p.S160C,ENST00000264731,NM_001329964.1&NM_003722.5,c.479C>G,MODERATE,YES,deleterious(0),probably_damaging(1),1;TP63,missense_variant,p.S66C,ENST00000354600,NM_001114980.2,c.197C>G,MODERATE,,deleterious(0),probably_damaging(1),1;TP63,missense_variant,p.S160C,ENST00000418709,NM_001114979.2,c.479C>G,MODERATE,,deleterious(0),probably_damaging(1),1;TP63,missense_variant,p.S66C,ENST00000437221,NM_001114982.2,c.197C>G,MODERATE,,deleterious(0),probably_damaging(1),1;TP63,missense_variant,p.S160C,ENST00000320472,NM_001329144.2,c.479C>G,MODERATE,,deleterious(0),probably_damaging(1),1;TP63,missense_variant,p.S160C,ENST00000440651,NM_001329148.2,c.479C>G,MODERATE,,deleterious(0),probably_damaging(1),1;TP63,missense_variant,p.S66C,ENST00000456148,,c.197C>G,MODERATE,,deleterious(0),probably_damaging(1),1;TP63,missense_variant,p.S160C,ENST00000392460,NM_001114978.2,c.479C>G,MODERATE,,deleterious(0),probably_damaging(1),1;TP63,missense_variant,p.S66C,ENST00000392463,NM_001114981.2,c.197C>G,MODERATE,,deleterious(0),probably_damaging(1),1;TP63,missense_variant,p.S66C,ENST00000392461,NM_001329145.2&NM_001329149.2&NM_001329150.2,c.197C>G,MODERATE,,deleterious(0),probably_damaging(1),1;TP63,missense_variant,p.S66C,ENST00000434928,,c.197C>G,MODERATE,,deleterious_low_confidence(0),probably_damaging(0.987),1;TP63,intron_variant,,ENST00000449992,NM_001329146.2,c.42+18584C>G,MODIFIER,,,,1;TP63,non_coding_transcript_exon_variant,,ENST00000460036,,n.303C>G,MODIFIER,,,,1","Allele":"G","Gene":"ENSG00000073282","Feature":"ENST00000264731","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"606/4944","CDS_position":"479/2043","Protein_position":"160/680","Amino_acids":"S/C","Codons":"tCt/tGt","Existing_variation":"COSV53207041","TRANSCRIPT_STRAND":1,"SYMBOL":"TP63","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:15979","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS3293.1","ENSP":"ENSP00000264731","SWISSPROT":"Q9H3D4.200","TREMBL":"A0A0S2Z4N5.39","UNIPARC":"UPI0000073CF2","UNIPROT_ISOFORM":"Q9H3D4-1","RefSeq":"NM_001329964.1;NM_003722.5","MANE":"NM_003722.5","APPRIS":"A1","SIFT":"deleterious(0)","PolyPhen":"probably_damaging(1)","EXON":"4/14","DOMAINS":"PDB-ENSP_mappings:2rmn.A;PANTHER:PTHR11447;PANTHER:PTHR11447:SF8","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","GENE_PHENO":"1","CONTEXT":"TCTCTCTCCAT","tumor_bam_uuid":"36a7238c-d3bc-4d4e-ae55-a1fa73376e43","normal_bam_uuid":"bbe2d6bf-43ac-4c73-9bb1-9f0e862a84a1","case_id":"8b3a111a-aa46-41b9-bbec-28f4290da939","COSMIC":"COSM5243768;COSM5243769;COSM5243770","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2"}
{"X1":"339","Hugo_Symbol":"CNOT1","Entrez_Gene_Id":23019,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr16","Start_Position":58586580,"End_Position":58586599,"Strand":"+","Variant_Classification":"Frame_Shift_Del","Variant_Type":"DEL","Reference_Allele":"TCTTGTCCAACTCCAAAGGC","Tumor_Seq_Allele1":"TCTTGTCCAACTCCAAAGGC","Tumor_Seq_Allele2":"-","dbSNP_RS":"novel","Tumor_Sample_Barcode":"TCGA-44-7672-01A-11D-2063-08","Matched_Norm_Sample_Barcode":"TCGA-44-7672-10A-01D-2063-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"9982bd67-c7eb-4c68-b9c4-2907ef244790","Matched_Norm_Sample_UUID":"df1444af-0bbc-4596-863f-47afa29cae67","HGVSc":"c.583_602del","HGVSp":"p.Ala195ThrfsTer7","HGVSp_Short":"p.A195Tfs*7","Transcript_ID":"ENST00000317147","Exon_Number":"7/49","t_depth":360,"t_ref_count":296,"t_alt_count":64,"n_depth":370,"all_effects":"CNOT1,frameshift_variant,p.A195Tfs*7,ENST00000317147,NM_016284.5,c.583_602del,HIGH,YES,,,-1;CNOT1,frameshift_variant,p.A195Tfs*7,ENST00000569240,NM_001265612.2,c.583_602del,HIGH,,,,-1;CNOT1,frameshift_variant,p.A195Tfs*7,ENST00000441024,NM_206999.3,c.583_602del,HIGH,,,,-1;CNOT1,intron_variant,,ENST00000628857,,c.251+1239_251+1258del,MODIFIER,,,,-1;CNOT1,downstream_gene_variant,,ENST00000564557,,,MODIFIER,,,,-1;CNOT1,frameshift_variant,p.A195Tfs*7,ENST00000567188,,c.583_602del,HIGH,,,,-1;CNOT1,intron_variant,,ENST00000565605,,c.251+1239_251+1258del,MODIFIER,,,,-1","Allele":"-","Gene":"ENSG00000125107","Feature":"ENST00000317147","Feature_type":"Transcript","One_Consequence":"frameshift_variant","Consequence":"frameshift_variant","cDNA_position":"856-875/8411","CDS_position":"583-602/7131","Protein_position":"195-201/2376","Amino_acids":"AFGVGQE/X","Codons":"GCCTTTGGAGTTGGACAAGAa/a","TRANSCRIPT_STRAND":-1,"SYMBOL":"CNOT1","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:7877","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS10799.1","ENSP":"ENSP00000320949","SWISSPROT":"A5YKK6.127","UNIPARC":"UPI00001FF2F6","UNIPROT_ISOFORM":"A5YKK6-1","RefSeq":"NM_016284.5","MANE":"NM_016284.5","APPRIS":"P1","EXON":"7/49","DOMAINS":"PANTHER:PTHR13162:SF8;PANTHER:PTHR13162","IMPACT":"HIGH","PICK":1,"VARIANT_CLASS":"deletion","TSL":1,"GENE_PHENO":"1","CONTEXT":"ATCTGTTCTTGTCCAACTCCAAAGGCTCCCT","tumor_bam_uuid":"334e6a73-0c37-4bea-89e7-2a78922a069c","normal_bam_uuid":"12bedcc0-eb2e-4395-a78b-77fb623154b7","case_id":"4036c6fc-c82e-47bb-a384-6f299dc30b52","hotspot":"N","RNA_Support":"Unknown","callers":"mutect2;pindel;varscan2"}
{"X1":"126","Hugo_Symbol":"PRAMEF15","Entrez_Gene_Id":653619,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr1","Start_Position":13318691,"End_Position":13318691,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"T","Tumor_Seq_Allele1":"T","Tumor_Seq_Allele2":"C","dbSNP_RS":"novel","Tumor_Sample_Barcode":"TCGA-69-7980-01A-11D-2184-08","Matched_Norm_Sample_Barcode":"TCGA-69-7980-10A-01D-2184-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"125eda94-46ba-467b-93a5-909b1084136d","Matched_Norm_Sample_UUID":"ff44cf5d-e9bb-4f79-82b0-056824e2d6b5","HGVSc":"c.284T>C","HGVSp":"p.Val95Ala","HGVSp_Short":"p.V95A","Transcript_ID":"ENST00000376152","Exon_Number":"2/4","t_depth":165,"t_ref_count":151,"t_alt_count":14,"n_depth":148,"all_effects":"PRAMEF15,missense_variant,p.V95A,ENST00000376152,NM_001098376.3,c.284T>C,MODERATE,YES,tolerated(0.11),benign(0.338),1","Allele":"C","Gene":"ENSG00000204501","Feature":"ENST00000376152","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"378/1865","CDS_position":"284/1437","Protein_position":"95/478","Amino_acids":"V/A","Codons":"gTt/gCt","TRANSCRIPT_STRAND":1,"SYMBOL":"PRAMEF15","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:26764","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS44059.1","ENSP":"ENSP00000365322","SWISSPROT":"Q5VWM5.129","UNIPARC":"UPI0000199BA7","RefSeq":"NM_001098376.3","MANE":"NM_001098376.3","APPRIS":"P1","SIFT":"tolerated(0.11)","PolyPhen":"benign(0.338)","EXON":"2/4","DOMAINS":"PIRSF:PIRSF038286;PANTHER:PTHR14224;PANTHER:PTHR14224:SF19","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"CONTEXT":"AGGGGTTCGTC","tumor_bam_uuid":"84685ecc-531d-4c12-9193-5442b8e30b14","normal_bam_uuid":"7497093e-bfce-4aea-a545-12309b3f519c","case_id":"aee86a89-0377-4080-b16c-408bfbe78687","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2"}
{"X1":"515","Hugo_Symbol":"FBXW12","Entrez_Gene_Id":285231,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr3","Start_Position":48394564,"End_Position":48394564,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"A","Tumor_Seq_Allele1":"A","Tumor_Seq_Allele2":"G","Tumor_Sample_Barcode":"TCGA-86-8672-01A-21D-2393-08","Matched_Norm_Sample_Barcode":"TCGA-86-8672-10A-01D-2393-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"71c8a95e-9476-4255-945f-ee019dd6e63d","Matched_Norm_Sample_UUID":"a2e39f7c-1a6f-4bb1-9880-73eba26335a3","HGVSc":"c.1300A>G","HGVSp":"p.Ile434Val","HGVSp_Short":"p.I434V","Transcript_ID":"ENST00000296438","Exon_Number":"11/11","t_depth":67,"t_ref_count":46,"t_alt_count":21,"n_depth":113,"all_effects":"FBXW12,missense_variant,p.I434V,ENST00000296438,NM_207102.2,c.1300A>G,MODERATE,YES,tolerated(0.44),benign(0),1;FBXW12,missense_variant,p.I415V,ENST00000445170,NM_001159929.1,c.1243A>G,MODERATE,,tolerated(0.46),benign(0.003),1;FBXW12,missense_variant,p.I364V,ENST00000415155,NM_001159927.1,c.1090A>G,MODERATE,,tolerated(0.88),benign(0),1;FBXW12,missense_variant,p.I277V,ENST00000436231,,c.829A>G,MODERATE,,tolerated(0.69),benign(0),1;FBXW12,non_coding_transcript_exon_variant,,ENST00000468158,,n.680A>G,MODIFIER,,,,1;FBXW12,non_coding_transcript_exon_variant,,ENST00000477542,,n.1735A>G,MODIFIER,,,,1","Allele":"G","Gene":"ENSG00000164049","Feature":"ENST00000296438","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"1486/1647","CDS_position":"1300/1395","Protein_position":"434/464","Amino_acids":"I/V","Codons":"Atc/Gtc","Existing_variation":"COSV99601417","TRANSCRIPT_STRAND":1,"SYMBOL":"FBXW12","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:20729","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS2764.1","ENSP":"ENSP00000296438","SWISSPROT":"Q6X9E4.129","UNIPARC":"UPI00004123F1","UNIPROT_ISOFORM":"Q6X9E4-1","RefSeq":"NM_207102.2","MANE":"NM_207102.2","APPRIS":"P4","SIFT":"tolerated(0.44)","PolyPhen":"benign(0)","EXON":"11/11","DOMAINS":"PANTHER:PTHR44019;PANTHER:PTHR44019:SF18;Gene3D:2.130.10.10","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","CONTEXT":"GCTGCATCTCC","tumor_bam_uuid":"4c578bd5-83cc-45ba-942c-7a0af5e26152","normal_bam_uuid":"bde6f267-9d34-40bb-a5cd-21b1e35f7cd0","case_id":"c0e263eb-1a83-4dc8-8abe-3dd2a59bae1b","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"337","Hugo_Symbol":"SI","Entrez_Gene_Id":6476,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr3","Start_Position":165059946,"End_Position":165059946,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-55-8506-01A-11D-2393-08","Matched_Norm_Sample_Barcode":"TCGA-55-8506-10A-01D-2393-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"30c689e3-563d-41f1-b08e-9322653e2eb2","Matched_Norm_Sample_UUID":"1ad5dca0-8616-4d2d-82b7-05098d7844d9","HGVSc":"c.1102G>T","HGVSp":"p.Val368Leu","HGVSp_Short":"p.V368L","Transcript_ID":"ENST00000264382","Exon_Number":"10/48","t_depth":246,"t_ref_count":184,"t_alt_count":62,"n_depth":297,"all_effects":"SI,missense_variant,p.V368L,ENST00000264382,NM_001041.4,c.1102G>T,MODERATE,YES,tolerated(0.53),benign(0.055),-1","Allele":"A","Gene":"ENSG00000090402","Feature":"ENST00000264382","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"1166/6012","CDS_position":"1102/5484","Protein_position":"368/1827","Amino_acids":"V/L","Codons":"Gtg/Ttg","Existing_variation":"COSV100013585","TRANSCRIPT_STRAND":-1,"SYMBOL":"SI","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:10856","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS3196.1","ENSP":"ENSP00000264382","SWISSPROT":"P14410.197","UNIPARC":"UPI000022C287","RefSeq":"NM_001041.4","MANE":"NM_001041.4","APPRIS":"P1","SIFT":"tolerated(0.53)","PolyPhen":"benign(0.055)","EXON":"10/48","DOMAINS":"PDB-ENSP_mappings:3lpo.A;PDB-ENSP_mappings:3lpo.B;PDB-ENSP_mappings:3lpo.C;PDB-ENSP_mappings:3lpo.D;PDB-ENSP_mappings:3lpp.A;PDB-ENSP_mappings:3lpp.B;PDB-ENSP_mappings:3lpp.C;PDB-ENSP_mappings:3lpp.D;CDD:cd06602;PANTHER:PTHR22762:SF66;PANTHER:PTHR22762;Gene3D:3.20.20.80;Pfam:PF01055;Superfamily:SSF51445","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","GENE_PHENO":"1","CONTEXT":"TTTCACTACAT","tumor_bam_uuid":"86d1af8e-0d02-4bab-8fe3-9242e4dbe387","normal_bam_uuid":"aad7c7fc-109b-48b4-9744-719cc29d528f","case_id":"3ed05070-6633-4de5-9f72-090f93aa2e4d","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"196","Hugo_Symbol":"METTL14","Entrez_Gene_Id":57721,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr4","Start_Position":118710112,"End_Position":118710112,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"C","Tumor_Sample_Barcode":"TCGA-50-5044-01A-21D-1855-08","Matched_Norm_Sample_Barcode":"TCGA-50-5044-10A-01D-1855-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"ec034986-4bf7-4554-b635-ca6d9c30da28","Matched_Norm_Sample_UUID":"27f19543-1a9f-4521-a46a-f4c470a4a5b0","HGVSc":"c.1181G>C","HGVSp":"p.Arg394Thr","HGVSp_Short":"p.R394T","Transcript_ID":"ENST00000388822","Exon_Number":"11/11","t_depth":81,"t_ref_count":73,"t_alt_count":8,"n_depth":77,"all_effects":"METTL14,missense_variant,p.R394T,ENST00000388822,NM_020961.4,c.1181G>C,MODERATE,YES,tolerated(0.5),benign(0.024),1;METTL14,3_prime_UTR_variant,,ENST00000506780,,c.*25G>C,MODIFIER,,,,1;METTL14,3_prime_UTR_variant,,ENST00000628452,,c.*912G>C,MODIFIER,,,,1","Allele":"C","Gene":"ENSG00000145388","Feature":"ENST00000388822","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"1324/6642","CDS_position":"1181/1371","Protein_position":"394/456","Amino_acids":"R/T","Codons":"aGa/aCa","Existing_variation":"COSV66310620","TRANSCRIPT_STRAND":1,"SYMBOL":"METTL14","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:29330","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS34053.1","ENSP":"ENSP00000373474","SWISSPROT":"Q9HCE5.126","UNIPARC":"UPI00000437DD","RefSeq":"NM_020961.4","MANE":"NM_020961.4","APPRIS":"P1","SIFT":"tolerated(0.5)","PolyPhen":"benign(0.024)","EXON":"11/11","DOMAINS":"PDB-ENSP_mappings:5il0.B;PDB-ENSP_mappings:5il1.B;PDB-ENSP_mappings:5il2.B;PDB-ENSP_mappings:5k7m.B;PDB-ENSP_mappings:5k7u.B;PDB-ENSP_mappings:5k7w.B;PDB-ENSP_mappings:5l6d.B;PDB-ENSP_mappings:5l6e.B;PDB-ENSP_mappings:5tey.B;PDB-ENSP_mappings:6ttp.B;PDB-ENSP_mappings:6ttt.B;PDB-ENSP_mappings:6ttv.B;PDB-ENSP_mappings:6ttw.B;PDB-ENSP_mappings:6ttx.B;PDB-ENSP_mappings:6tu1.B;PDB-ENSP_mappings:6y4g.B;MobiDB_lite:mobidb-lite;PROSITE_profiles:PS51592;PANTHER:PTHR13107;PANTHER:PTHR13107:SF0","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","CONTEXT":"TGAGAGACTTC","tumor_bam_uuid":"6dd4d701-1716-4ab7-9fe0-bfa804e66699","normal_bam_uuid":"f89eb67f-d73f-49d1-9f03-b6a7fa211798","case_id":"fa0c7392-d485-41ac-bf7e-244a528209ae","COSMIC":"COSM6099052","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"272","Hugo_Symbol":"SVEP1","Entrez_Gene_Id":79987,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr9","Start_Position":110481349,"End_Position":110481349,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"A","dbSNP_RS":"rs1347010865","Tumor_Sample_Barcode":"TCGA-73-A9RS-01A-11D-A410-08","Matched_Norm_Sample_Barcode":"TCGA-73-A9RS-10A-01D-A413-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"7c89393e-6976-44d5-896d-5648b0d092f4","Matched_Norm_Sample_UUID":"3ad125f9-b7cc-4814-b1e8-983a26dcd72c","HGVSc":"c.2258G>T","HGVSp":"p.Cys753Phe","HGVSp_Short":"p.C753F","Transcript_ID":"ENST00000374469","Exon_Number":"12/48","t_depth":18,"t_ref_count":12,"t_alt_count":6,"n_depth":15,"all_effects":"SVEP1,missense_variant,p.C753F,ENST00000401783,,c.2258G>T,MODERATE,YES,deleterious(0),probably_damaging(1),-1;SVEP1,missense_variant,p.C753F,ENST00000374469,NM_153366.4,c.2258G>T,MODERATE,,deleterious(0),probably_damaging(0.997),-1;SVEP1,missense_variant,p.C753F,ENST00000374461,,c.2258G>T,MODERATE,,deleterious(0),probably_damaging(0.997),-1;SVEP1,non_coding_transcript_exon_variant,,ENST00000467821,,n.1677G>T,MODIFIER,,,,-1","Allele":"A","Gene":"ENSG00000165124","Feature":"ENST00000374469","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"2456/12205","CDS_position":"2258/10716","Protein_position":"753/3571","Amino_acids":"C/F","Codons":"tGc/tTc","Existing_variation":"rs1347010865","TRANSCRIPT_STRAND":-1,"SYMBOL":"SVEP1","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:15985","BIOTYPE":"protein_coding","CCDS":"CCDS48004.1","ENSP":"ENSP00000363593","SWISSPROT":"Q4LDE5.143","UNIPARC":"UPI000153DA74","UNIPROT_ISOFORM":"Q4LDE5-1","RefSeq":"NM_153366.4","MANE":"NM_153366.4","APPRIS":"P4","SIFT":"deleterious(0)","PolyPhen":"probably_damaging(0.997)","EXON":"12/48","DOMAINS":"PROSITE_profiles:PS50923;SMART:SM00032","gnomAD_AF":"0","gnomAD_AFR_AF":"0","gnomAD_AMR_AF":"0","gnomAD_ASJ_AF":"0","gnomAD_EAS_AF":"0","gnomAD_FIN_AF":"0","gnomAD_NFE_AF":"0","gnomAD_OTH_AF":"0","gnomAD_SAS_AF":"0","MAX_AF":"0","MAX_AF_POPS":"gnomAD_AFR;gnomAD_AMR;gnomAD_ASJ;gnomAD_EAS;gnomAD_FIN;gnomAD_NFE;gnomAD_OTH;gnomAD_SAS","IMPACT":"MODERATE","VARIANT_CLASS":"SNV","TSL":5,"CONTEXT":"CCAAGCAAGTT","tumor_bam_uuid":"2ebbaf59-2d2d-46d9-a3b1-9926c4d982ab","normal_bam_uuid":"9a730bc0-3aa1-496a-8c7a-cc6f3d4320b6","case_id":"2a394996-809f-459f-a647-d209921ccbd2","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2"}
{"X1":"143","Hugo_Symbol":"PCDHB16","Entrez_Gene_Id":57717,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr5","Start_Position":141183353,"End_Position":141183353,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"G","Tumor_Sample_Barcode":"TCGA-44-2668-01A-01W-0928-08","Matched_Norm_Sample_Barcode":"TCGA-44-2668-10A-01D-1489-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"1a85823f-a453-4023-95c9-4acbe6c79ce3","Matched_Norm_Sample_UUID":"bf763792-789b-47d2-b4fd-1dbcaf7467ab","HGVSc":"c.794C>G","HGVSp":"p.Ser265Cys","HGVSp_Short":"p.S265C","Transcript_ID":"ENST00000609684","Exon_Number":"1/1","t_depth":115,"t_ref_count":103,"t_alt_count":12,"n_depth":211,"all_effects":"PCDHB16,missense_variant,p.S265C,ENST00000609684,NM_020957.3,c.794C>G,MODERATE,YES,deleterious_low_confidence(0),possibly_damaging(0.83),1;PCDHB16,intron_variant,,ENST00000625044,,c.-36-215C>G,MODIFIER,,,,1;PCDHB8,downstream_gene_variant,,ENST00000239444,NM_019120.5,,MODIFIER,YES,,,1;PCDHB9,upstream_gene_variant,,ENST00000316105,NM_019119.5,,MODIFIER,YES,,,1;PCDHB9,upstream_gene_variant,,ENST00000624909,,,MODIFIER,,,,1;PCDHB9,upstream_gene_variant,,ENST00000623266,,,MODIFIER,,,,1;AC244517.6,intron_variant,,ENST00000623407,,n.186+759C>G,MODIFIER,YES,,,1;AC244517.6,intron_variant,,ENST00000623884,,n.166+759C>G,MODIFIER,,,,1;AC244517.11,intron_variant,,ENST00000624192,,n.73-46170G>C,MODIFIER,,,,-1;AC244517.8,downstream_gene_variant,,ENST00000623995,,,MODIFIER,YES,,,1;AC244517.4,downstream_gene_variant,,ENST00000624089,,,MODIFIER,,,,-1;AC244517.4,downstream_gene_variant,,ENST00000624549,,,MODIFIER,YES,,,-1","Allele":"G","Gene":"ENSG00000272674","Feature":"ENST00000609684","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"1955/5001","CDS_position":"794/2331","Protein_position":"265/776","Amino_acids":"S/C","Codons":"tCc/tGc","Existing_variation":"COSV53364278;COSV53372418","TRANSCRIPT_STRAND":1,"SYMBOL":"PCDHB16","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:14546","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS4251.1","ENSP":"ENSP00000477314","SWISSPROT":"Q9NRJ7.162","UNIPARC":"UPI00001273E9","RefSeq":"NM_020957.3","APPRIS":"P1","SIFT":"deleterious_low_confidence(0)","PolyPhen":"possibly_damaging(0.83)","EXON":"1/1","DOMAINS":"Gene3D:2.60.40.60;Pfam:PF00028;Prints:PR00205;PROSITE_profiles:PS50268;PANTHER:PTHR24028;PANTHER:PTHR24028:SF71;SMART:SM00112;Superfamily:SSF49313;CDD:cd11304","SOMATIC":"1;1","IMPACT":"MODERATE","VARIANT_CLASS":"SNV","PHENO":"1;1","CONTEXT":"CGTCTCCGCCA","tumor_bam_uuid":"731cfe01-d1a7-4e09-96e3-715c8f557323","normal_bam_uuid":"2af16af1-1909-41f8-a008-d1e99138ed46","case_id":"bab43415-d413-40be-a4c0-2c40a52afe6a","COSMIC":"COSM6102352","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"87","Hugo_Symbol":"HEATR5B","Entrez_Gene_Id":54497,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr2","Start_Position":37056552,"End_Position":37056552,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-44-7670-01A-11D-2063-08","Matched_Norm_Sample_Barcode":"TCGA-44-7670-10A-01D-2063-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"2342c577-a2e8-4239-ba8e-bbf1c62e7741","Matched_Norm_Sample_UUID":"f5a0150c-19b8-43ad-8e1a-7c2608c388ae","HGVSc":"c.2287C>T","HGVSp":"p.Arg763Cys","HGVSp_Short":"p.R763C","Transcript_ID":"ENST00000233099","Exon_Number":"16/36","t_depth":139,"t_ref_count":125,"t_alt_count":14,"n_depth":106,"all_effects":"HEATR5B,missense_variant,p.R763C,ENST00000233099,NM_019024.3,c.2287C>T,MODERATE,YES,deleterious(0.01),possibly_damaging(0.862),-1;HEATR5B,upstream_gene_variant,,ENST00000467978,,,MODIFIER,,,,-1","Allele":"A","Gene":"ENSG00000008869","Feature":"ENST00000233099","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"2413/6937","CDS_position":"2287/6216","Protein_position":"763/2071","Amino_acids":"R/C","Codons":"Cgc/Tgc","Existing_variation":"COSV51852538","TRANSCRIPT_STRAND":-1,"SYMBOL":"HEATR5B","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:29273","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS33181.1","ENSP":"ENSP00000233099","SWISSPROT":"Q9P2D3.135","UNIPARC":"UPI0000160DCD","UNIPROT_ISOFORM":"Q9P2D3-1","RefSeq":"NM_019024.3","MANE":"NM_019024.3","APPRIS":"P1","SIFT":"deleterious(0.01)","PolyPhen":"possibly_damaging(0.862)","EXON":"16/36","DOMAINS":"PANTHER:PTHR21663:SF2;PANTHER:PTHR21663;Superfamily:SSF48371","gnomAD_non_cancer_AF":"6.7635201048688e-06","gnomAD_non_cancer_AFR_AF":"0","gnomAD_non_cancer_AMI_AF":"0","gnomAD_non_cancer_AMR_AF":"0","gnomAD_non_cancer_ASJ_AF":"0","gnomAD_non_cancer_EAS_AF":"0","gnomAD_non_cancer_FIN_AF":"0","gnomAD_non_cancer_MID_AF":"0","gnomAD_non_cancer_NFE_AF":"1.5433099179063e-05","gnomAD_non_cancer_OTH_AF":"0","gnomAD_non_cancer_SAS_AF":"0","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","CONTEXT":"TATGCGTAAAT","tumor_bam_uuid":"55351097-7fda-43a8-906a-b7aa611527ce","normal_bam_uuid":"63182f2c-0fa1-4244-a23d-026ed9ec9961","case_id":"9b38eded-3f46-4aaa-9991-68008d97bdbe","COSMIC":"COSM6158281","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"15","Hugo_Symbol":"TNN","Entrez_Gene_Id":63923,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr1","Start_Position":175128152,"End_Position":175128152,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"A","Tumor_Seq_Allele1":"A","Tumor_Seq_Allele2":"T","Tumor_Sample_Barcode":"TCGA-86-6851-01A-11D-1945-08","Matched_Norm_Sample_Barcode":"TCGA-86-6851-10A-01D-1946-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"f5a79ea9-4b65-4e69-bed1-79919e2639d7","Matched_Norm_Sample_UUID":"4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc","HGVSc":"c.3166A>T","HGVSp":"p.Thr1056Ser","HGVSp_Short":"p.T1056S","Transcript_ID":"ENST00000239462","Exon_Number":"14/19","t_depth":55,"t_ref_count":38,"t_alt_count":17,"n_depth":43,"all_effects":"TNN,missense_variant,p.T1056S,ENST00000239462,NM_022093.2,c.3166A>T,MODERATE,YES,tolerated(0.17),benign(0.006),1;TNN,missense_variant,p.T879S,ENST00000621086,,c.2635A>T,MODERATE,,tolerated(0.14),benign(0.062),1;TNN,missense_variant,p.T879S,ENST00000622870,,c.2635A>T,MODERATE,,tolerated(0.14),benign(0.089),1","Allele":"T","Gene":"ENSG00000120332","Feature":"ENST00000239462","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"3304/5042","CDS_position":"3166/3900","Protein_position":"1056/1299","Amino_acids":"T/S","Codons":"Acc/Tcc","Existing_variation":"COSV53426567","TRANSCRIPT_STRAND":1,"SYMBOL":"TNN","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:22942","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS30943.1","ENSP":"ENSP00000239462","SWISSPROT":"Q9UQP3.170","UNIPARC":"UPI00001D7DA9","RefSeq":"NM_022093.2","MANE":"NM_022093.2","APPRIS":"P1","SIFT":"tolerated(0.17)","PolyPhen":"benign(0.006)","EXON":"14/19","DOMAINS":"Gene3D:2.60.40.10;PROSITE_profiles:PS50853;PANTHER:PTHR19143;PANTHER:PTHR19143:SF348","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":2,"PHENO":"1","CONTEXT":"CCACCACCCTC","tumor_bam_uuid":"233b7002-59ea-46a1-96d9-789fed70061f","normal_bam_uuid":"59fecb9a-c420-4e98-807a-27c5703246f8","case_id":"035c0b2b-c722-443b-8962-db4ee92c7532","COSMIC":"COSM6122611","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"42","Hugo_Symbol":"PDZD2","Entrez_Gene_Id":23037,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr5","Start_Position":32037335,"End_Position":32037335,"Strand":"+","Variant_Classification":"Silent","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"G","Tumor_Sample_Barcode":"TCGA-38-4632-01A-01D-1753-08","Matched_Norm_Sample_Barcode":"TCGA-38-4632-11A-01D-1753-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"83519ed1-29e2-4f1b-922c-5779f64178bc","Matched_Norm_Sample_UUID":"8709a767-d5d1-4ab8-aa7a-085c742d1e85","HGVSc":"c.1512C>G","HGVSp":"p.Arg504=","HGVSp_Short":"p.R504=","Transcript_ID":"ENST00000438447","Exon_Number":"7/25","t_depth":45,"t_ref_count":21,"t_alt_count":24,"n_depth":20,"all_effects":"PDZD2,synonymous_variant,p.R504=,ENST00000438447,NM_178140.4,c.1512C>G,LOW,YES,,,1;PDZD2,non_coding_transcript_exon_variant,,ENST00000502489,,n.1268C>G,MODIFIER,,,,1","Allele":"G","Gene":"ENSG00000133401","Feature":"ENST00000438447","Feature_type":"Transcript","One_Consequence":"synonymous_variant","Consequence":"synonymous_variant","cDNA_position":"2179/11984","CDS_position":"1512/8520","Protein_position":"504/2839","Amino_acids":"R","Codons":"cgC/cgG","Existing_variation":"COSV56859909;COSV99225575","TRANSCRIPT_STRAND":1,"SYMBOL":"PDZD2","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:18486","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS34137.1","ENSP":"ENSP00000402033","SWISSPROT":"O15018.150","TREMBL":"A0A024RE15.42","UNIPARC":"UPI000069648B","UNIPROT_ISOFORM":"O15018-1","RefSeq":"NM_178140.4","MANE":"NM_178140.4","APPRIS":"P1","EXON":"7/25","DOMAINS":"PANTHER:PTHR11324;PANTHER:PTHR11324:SF16","SOMATIC":"1;1","IMPACT":"LOW","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1;1","CONTEXT":"AGTCGCCTTTC","tumor_bam_uuid":"d5b00de1-c9a3-43c4-9ffd-dabe340d4b82","normal_bam_uuid":"aa269f24-14b2-4c1c-b811-c6d3bdd579e4","case_id":"875333ab-9048-462d-aaa2-693ad127e3cc","COSMIC":"COSM6103945","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"495","Hugo_Symbol":"MROH2B","Entrez_Gene_Id":133558,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr5","Start_Position":41004911,"End_Position":41004911,"Strand":"+","Variant_Classification":"Frame_Shift_Del","Variant_Type":"DEL","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"-","Tumor_Sample_Barcode":"TCGA-69-7979-01A-11D-2184-08","Matched_Norm_Sample_Barcode":"TCGA-69-7979-10A-01D-2184-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"6400fd9c-3e0d-417e-823a-bf9eb0129717","Matched_Norm_Sample_UUID":"caa9cc86-69ca-4da0-9356-2b49dfc88dad","HGVSc":"c.3874del","HGVSp":"p.Glu1292AsnfsTer14","HGVSp_Short":"p.E1292Nfs*14","Transcript_ID":"ENST00000399564","Exon_Number":"36/42","t_depth":27,"t_ref_count":23,"t_alt_count":4,"n_depth":39,"all_effects":"MROH2B,frameshift_variant,p.E1292Nfs*14,ENST00000399564,NM_173489.5,c.3874del,HIGH,YES,,,-1;MROH2B,frameshift_variant,p.E847Nfs*14,ENST00000506092,,c.2539del,HIGH,,,,-1;MROH2B,non_coding_transcript_exon_variant,,ENST00000515297,,n.3262del,MODIFIER,,,,-1;MROH2B,non_coding_transcript_exon_variant,,ENST00000503890,,n.3016del,MODIFIER,,,,-1;MROH2B,upstream_gene_variant,,ENST00000511934,,,MODIFIER,,,,-1","Allele":"-","Gene":"ENSG00000171495","Feature":"ENST00000399564","Feature_type":"Transcript","One_Consequence":"frameshift_variant","Consequence":"frameshift_variant","cDNA_position":"4364/5280","CDS_position":"3874/4758","Protein_position":"1292/1585","Amino_acids":"E/X","Codons":"Gaa/aa","Existing_variation":"COSV68183148","TRANSCRIPT_STRAND":-1,"SYMBOL":"MROH2B","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:26857","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS47202.1","ENSP":"ENSP00000382476","SWISSPROT":"Q7Z745.131","UNIPARC":"UPI000020CA04","UNIPROT_ISOFORM":"Q7Z745-1","RefSeq":"NM_173489.5","MANE":"NM_173489.5","APPRIS":"P2","EXON":"36/42","DOMAINS":"PANTHER:PTHR23120;PANTHER:PTHR23120:SF22;Superfamily:SSF48371","SOMATIC":"1","IMPACT":"HIGH","PICK":1,"VARIANT_CLASS":"deletion","TSL":1,"PHENO":"1","CONTEXT":"TTGGTTCCTTCA","tumor_bam_uuid":"0db85f44-2f3a-4f28-8a66-486a47a34ce3","normal_bam_uuid":"cfba3ae5-92f5-43ab-9415-166ca42aa6dc","case_id":"a5bd7d50-9c14-49e6-89cf-6bf440c42309","hotspot":"N","RNA_Support":"Unknown","callers":"mutect2;pindel;varscan2"}
{"X1":"19","Hugo_Symbol":"RNF166","Entrez_Gene_Id":115992,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr16","Start_Position":88701339,"End_Position":88701339,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"T","Tumor_Seq_Allele1":"T","Tumor_Seq_Allele2":"C","Tumor_Sample_Barcode":"TCGA-MP-A4T8-01A-11D-A24P-08","Matched_Norm_Sample_Barcode":"TCGA-MP-A4T8-10A-01D-A24P-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"1ec349f7-c7b8-425b-8b0d-83b2fc3b110a","Matched_Norm_Sample_UUID":"7b388562-497f-407c-bc16-67a2d659094d","HGVSc":"c.235A>G","HGVSp":"p.Lys79Glu","HGVSp_Short":"p.K79E","Transcript_ID":"ENST00000312838","Exon_Number":"2/6","t_depth":28,"t_ref_count":16,"t_alt_count":12,"n_depth":51,"all_effects":"RNF166,missense_variant,p.K79E,ENST00000312838,NM_178841.4,c.235A>G,MODERATE,YES,tolerated(0.17),possibly_damaging(0.656),-1;RNF166,missense_variant,p.K58E,ENST00000562544,,c.172A>G,MODERATE,,tolerated(0.15),benign(0.359),-1;RNF166,5_prime_UTR_variant,,ENST00000541206,NM_001171816.2,c.-93A>G,MODIFIER,,,,-1;RNF166,intron_variant,,ENST00000567844,NM_001171815.2,c.115-1652A>G,MODIFIER,,,,-1;RNF166,upstream_gene_variant,,ENST00000537718,,,MODIFIER,,,,-1;RNF166,upstream_gene_variant,,ENST00000567408,,,MODIFIER,,,,-1;RNF166,upstream_gene_variant,,ENST00000568683,,,MODIFIER,,,,-1;RNF166,non_coding_transcript_exon_variant,,ENST00000562499,,n.548A>G,MODIFIER,,,,-1;RNF166,non_coding_transcript_exon_variant,,ENST00000564894,,n.312A>G,MODIFIER,,,,-1;RNF166,non_coding_transcript_exon_variant,,ENST00000569478,,n.549A>G,MODIFIER,,,,-1;RNF166,upstream_gene_variant,,ENST00000565083,,,MODIFIER,,,,-1;AC138028.3,downstream_gene_variant,,ENST00000561699,,,MODIFIER,YES,,,1","Allele":"C","Gene":"ENSG00000158717","Feature":"ENST00000312838","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"318/1864","CDS_position":"235/714","Protein_position":"79/237","Amino_acids":"K/E","Codons":"Aag/Gag","Existing_variation":"COSV100455525","TRANSCRIPT_STRAND":-1,"SYMBOL":"RNF166","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:28856","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS10969.1","ENSP":"ENSP00000326095","SWISSPROT":"Q96A37.144","UNIPARC":"UPI0000071276","UNIPROT_ISOFORM":"Q96A37-1","RefSeq":"NM_178841.4","MANE":"NM_178841.4","APPRIS":"P1","SIFT":"tolerated(0.17)","PolyPhen":"possibly_damaging(0.656)","EXON":"2/6","DOMAINS":"PANTHER:PTHR46016;PANTHER:PTHR46016:SF4;Gene3D:3.30.40.10;Superfamily:SSF57850","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","CONTEXT":"CTTCTTGGGGT","tumor_bam_uuid":"42a9459c-eca7-430d-b023-995f37b3fb0e","normal_bam_uuid":"d3285e08-9315-4fad-9b2f-e22c0bebc76a","case_id":"7c4ed533-ee66-48be-a84b-ff8607742818","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"99","Hugo_Symbol":"POLQ","Entrez_Gene_Id":10721,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr3","Start_Position":121493621,"End_Position":121493621,"Strand":"+","Variant_Classification":"Silent","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-05-4396-01A-21D-1855-08","Matched_Norm_Sample_Barcode":"TCGA-05-4396-10A-01D-1855-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"0176cf1d-0760-4769-a493-277f4bb7585e","Matched_Norm_Sample_UUID":"1f8820d1-4a97-41b7-a4d8-be832c9e0575","HGVSc":"c.2379G>T","HGVSp":"p.Leu793=","HGVSp_Short":"p.L793=","Transcript_ID":"ENST00000264233","Exon_Number":"15/30","t_depth":38,"t_ref_count":22,"t_alt_count":16,"n_depth":46,"all_effects":"POLQ,synonymous_variant,p.L928=,ENST00000621776,,c.2784G>T,LOW,YES,,,-1;POLQ,synonymous_variant,p.L793=,ENST00000264233,NM_199420.4,c.2379G>T,LOW,,,,-1;RPL7AP11,upstream_gene_variant,,ENST00000486538,,,MODIFIER,YES,,,1","Allele":"A","Gene":"ENSG00000051341","Feature":"ENST00000264233","Feature_type":"Transcript","One_Consequence":"synonymous_variant","Consequence":"synonymous_variant","cDNA_position":"2490/8757","CDS_position":"2379/7773","Protein_position":"793/2590","Amino_acids":"L","Codons":"ctG/ctT","Existing_variation":"COSV51762565","TRANSCRIPT_STRAND":-1,"SYMBOL":"POLQ","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:9186","BIOTYPE":"protein_coding","CCDS":"CCDS33833.1","ENSP":"ENSP00000264233","SWISSPROT":"O75417.149","UNIPARC":"UPI0000D61B5F","UNIPROT_ISOFORM":"O75417-1","RefSeq":"NM_199420.4","MANE":"NM_199420.4","APPRIS":"A2","EXON":"15/30","DOMAINS":"PDB-ENSP_mappings:5a9f.A;PDB-ENSP_mappings:5a9j.A;PDB-ENSP_mappings:5a9j.B;PDB-ENSP_mappings:5a9j.C;PDB-ENSP_mappings:5a9j.D;PDB-ENSP_mappings:5aga.A;Gene3D:1.10.3380.20;Superfamily:SSF158702;PANTHER:PTHR10133;PANTHER:PTHR10133:SF42","SOMATIC":"1","IMPACT":"LOW","VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","GENE_PHENO":"1","CONTEXT":"TCACACAGCTC","tumor_bam_uuid":"25f239bb-883f-44bf-88c2-3977503a5321","normal_bam_uuid":"69e9e6eb-f053-4285-a66e-2e12216d6893","case_id":"9f81c602-8afa-4588-b0b6-6e5a1a128d5a","COSMIC":"COSM6096049","hotspot":"N","RNA_Support":"Unknown","callers":"muse;varscan2"}
{"X1":"165","Hugo_Symbol":"PRSS37","Entrez_Gene_Id":136242,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr7","Start_Position":141837889,"End_Position":141837889,"Strand":"+","Variant_Classification":"Nonsense_Mutation","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"C","Tumor_Sample_Barcode":"TCGA-55-7913-01B-11D-2238-08","Matched_Norm_Sample_Barcode":"TCGA-55-7913-10A-01D-2238-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"ca138254-66ce-4df1-ab2b-17310aef640d","Matched_Norm_Sample_UUID":"441733b7-dafe-47f2-952f-7332f21bdede","HGVSc":"c.401C>G","HGVSp":"p.Ser134Ter","HGVSp_Short":"p.S134*","Transcript_ID":"ENST00000350549","Exon_Number":"3/5","t_depth":117,"t_ref_count":99,"t_alt_count":18,"n_depth":157,"all_effects":"PRSS37,stop_gained,p.S134*,ENST00000350549,NM_001171951.1&NM_001008270.3,c.401C>G,HIGH,YES,,,-1;PRSS37,stop_gained,p.S134*,ENST00000438520,NM_001370403.1,c.401C>G,HIGH,,,,-1;PRSS37,3_prime_UTR_variant,,ENST00000419085,,c.*1085C>G,MODIFIER,,,,-1;PRSS37,3_prime_UTR_variant,,ENST00000452758,,c.*171C>G,MODIFIER,,,,-1","Allele":"C","Gene":"ENSG00000165076","Feature":"ENST00000350549","Feature_type":"Transcript","One_Consequence":"stop_gained","Consequence":"stop_gained","cDNA_position":"837/1239","CDS_position":"401/708","Protein_position":"134/235","Amino_acids":"S/*","Codons":"tCa/tGa","Existing_variation":"COSV100633835","TRANSCRIPT_STRAND":-1,"SYMBOL":"PRSS37","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:29211","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS34764.1","ENSP":"ENSP00000297767","SWISSPROT":"A4D1T9.93","UNIPARC":"UPI000004223A","RefSeq":"NM_001171951.1;NM_001008270.3","MANE":"NM_001008270.3","APPRIS":"P1","EXON":"3/5","DOMAINS":"PROSITE_profiles:PS50240;PANTHER:PTHR24271;PANTHER:PTHR24271:SF61;Gene3D:2.40.10.10;Pfam:PF00089;Gene3D:2.40.10.10;SMART:SM00020;Superfamily:SSF50494","SOMATIC":"1","IMPACT":"HIGH","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","CONTEXT":"AACCTGAGAGT","tumor_bam_uuid":"c6501fcd-9c1b-4c19-99ae-58e6378401ac","normal_bam_uuid":"4e460db7-5754-48c1-aa22-db75405ec563","case_id":"c9c533ee-e154-4a56-bce9-b5af37574b2f","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"487","Hugo_Symbol":"OR14I1","Entrez_Gene_Id":401994,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr1","Start_Position":248681752,"End_Position":248681752,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"T","Tumor_Sample_Barcode":"TCGA-55-8205-01A-11D-2238-08","Matched_Norm_Sample_Barcode":"TCGA-55-8205-10A-01D-2238-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"300ba4fc-8004-48ad-9657-76187e44c303","Matched_Norm_Sample_UUID":"562191f7-038d-40fe-98e5-fdb02976e644","HGVSc":"c.553C>A","HGVSp":"p.Leu185Met","HGVSp_Short":"p.L185M","Transcript_ID":"ENST00000342623","Exon_Number":"1/1","t_depth":40,"t_ref_count":35,"t_alt_count":5,"n_depth":51,"all_effects":"OR14I1,missense_variant,p.L185M,ENST00000342623,NM_001004734.1,c.553C>A,MODERATE,YES,deleterious(0),possibly_damaging(0.542),-1;CR589904.2,3_prime_UTR_variant,,ENST00000651827,,c.*619C>A,MODIFIER,YES,,,-1","Allele":"T","Gene":"ENSG00000189181","Feature":"ENST00000342623","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"577/1007","CDS_position":"553/936","Protein_position":"185/311","Amino_acids":"L/M","Codons":"Ctg/Atg","Existing_variation":"COSV100700426","TRANSCRIPT_STRAND":-1,"SYMBOL":"OR14I1","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:19575","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS31125.1","ENSP":"ENSP00000339726","SWISSPROT":"A6ND48.100","UNIPARC":"UPI0000199BC9","RefSeq":"NM_001004734.1","APPRIS":"P1","SIFT":"deleterious(0)","PolyPhen":"possibly_damaging(0.542)","EXON":"1/1","DOMAINS":"Gene3D:1.20.1070.10;Pfam:PF13853;Prints:PR00245;PROSITE_profiles:PS50262;PANTHER:PTHR26452;PANTHER:PTHR26452:SF750;Superfamily:SSF81321;CDD:cd15227","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","PHENO":"1","CONTEXT":"AACCAGGGCCA","tumor_bam_uuid":"11eafc26-bea2-432e-bc14-542230a46745","normal_bam_uuid":"1bb77084-4691-4cac-8520-34fe7540db55","case_id":"95fa64b0-91e1-4427-b81a-53c47a053563","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"88","Hugo_Symbol":"OR8J3","Entrez_Gene_Id":81168,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr11","Start_Position":56137304,"End_Position":56137304,"Strand":"+","Variant_Classification":"Silent","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"T","Tumor_Sample_Barcode":"TCGA-05-5425-01A-02D-1625-08","Matched_Norm_Sample_Barcode":"TCGA-05-5425-10A-01D-1625-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"70a3e96b-dd26-419c-9a68-97dea0465d6e","Matched_Norm_Sample_UUID":"6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b","HGVSc":"c.415C>A","HGVSp":"p.Arg139=","HGVSp_Short":"p.R139=","Transcript_ID":"ENST00000642058","Exon_Number":"2/2","t_depth":92,"t_ref_count":47,"t_alt_count":44,"n_depth":81,"all_effects":"OR8J3,synonymous_variant,p.R139=,ENST00000642058,,c.415C>A,LOW,YES,,,-1;OR8J3,synonymous_variant,p.R139=,ENST00000641913,NM_001004064.1,c.415C>A,LOW,,,,-1;OR8J3,intron_variant,,ENST00000641489,,n.30-266C>A,MODIFIER,,,,-1;OR5BN1P,upstream_gene_variant,,ENST00000532955,,,MODIFIER,YES,,,-1","Allele":"T","Gene":"ENSG00000167822","Feature":"ENST00000642058","Feature_type":"Transcript","One_Consequence":"synonymous_variant","Consequence":"synonymous_variant","cDNA_position":"1223/3806","CDS_position":"415/948","Protein_position":"139/315","Amino_acids":"R","Codons":"Cgg/Agg","Existing_variation":"COSV56880340;COSV56883282","TRANSCRIPT_STRAND":-1,"SYMBOL":"OR8J3","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:15312","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS31520.1","ENSP":"ENSP00000493166","SWISSPROT":"Q8NGG0.143","TREMBL":"A0A126GVE3.33","UNIPARC":"UPI0000061E99","APPRIS":"P1","EXON":"2/2","DOMAINS":"Low_complexity_(Seg):seg;PROSITE_profiles:PS50262;CDD:cd15413;PANTHER:PTHR26452:SF703;PANTHER:PTHR26452;Gene3D:1.20.1070.10;Pfam:PF13853;Superfamily:SSF81321;Prints:PR00245","SOMATIC":"1;1","IMPACT":"LOW","PICK":1,"VARIANT_CLASS":"SNV","PHENO":"1;1","CONTEXT":"GAGCCGCCGAG","tumor_bam_uuid":"b0d8d301-7af1-4820-90bb-5fd481f5859f","normal_bam_uuid":"22fa4d1e-609f-42bb-97ae-d667a2031105","case_id":"9b4eeecb-6aff-435b-a244-ec362af92b7f","COSMIC":"COSM543233","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"591","Hugo_Symbol":"PIP5KL1","Entrez_Gene_Id":138429,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr9","Start_Position":127927304,"End_Position":127927304,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-69-7978-01A-11D-2184-08","Matched_Norm_Sample_Barcode":"TCGA-69-7978-10A-01D-2184-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"8a70efd3-03b6-4ad7-8281-b15e1a6b323e","Matched_Norm_Sample_UUID":"4f87aab5-4d95-4b4e-b102-80adeaf0017e","HGVSc":"c.587G>T","HGVSp":"p.Gly196Val","HGVSp_Short":"p.G196V","Transcript_ID":"ENST00000388747","Exon_Number":"6/10","t_depth":34,"t_ref_count":30,"t_alt_count":4,"n_depth":34,"all_effects":"PIP5KL1,missense_variant,p.G196V,ENST00000388747,NM_001135219.2,c.587G>T,MODERATE,YES,deleterious(0.04),possibly_damaging(0.762),-1;PIP5KL1,5_prime_UTR_variant,,ENST00000300432,NM_173492.1,c.-23G>T,MODIFIER,,,,-1;PIP5KL1,non_coding_transcript_exon_variant,,ENST00000490773,,n.573G>T,MODIFIER,,,,-1;PIP5KL1,non_coding_transcript_exon_variant,,ENST00000498783,,n.474G>T,MODIFIER,,,,-1;PIP5KL1,non_coding_transcript_exon_variant,,ENST00000464108,,n.460G>T,MODIFIER,,,,-1;PIP5KL1,non_coding_transcript_exon_variant,,ENST00000464759,,n.81G>T,MODIFIER,,,,-1;PIP5KL1,non_coding_transcript_exon_variant,,ENST00000476624,,n.216G>T,MODIFIER,,,,-1;PIP5KL1,non_coding_transcript_exon_variant,,ENST00000497234,,n.154G>T,MODIFIER,,,,-1;PIP5KL1,downstream_gene_variant,,ENST00000492296,,,MODIFIER,,,,-1;PIP5KL1,upstream_gene_variant,,ENST00000495448,,,MODIFIER,,,,-1","Allele":"A","Gene":"ENSG00000167103","Feature":"ENST00000388747","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"612/2176","CDS_position":"587/1185","Protein_position":"196/394","Amino_acids":"G/V","Codons":"gGa/gTa","Existing_variation":"COSV55945063","TRANSCRIPT_STRAND":-1,"SYMBOL":"PIP5KL1","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:28711","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS48030.1","ENSP":"ENSP00000373399","SWISSPROT":"Q5T9C9.124","UNIPARC":"UPI0000EDA26F","UNIPROT_ISOFORM":"Q5T9C9-1","RefSeq":"NM_001135219.2","MANE":"NM_001135219.2","APPRIS":"P1","SIFT":"deleterious(0.04)","PolyPhen":"possibly_damaging(0.762)","EXON":"6/10","DOMAINS":"PROSITE_profiles:PS51455;CDD:cd17304;PANTHER:PTHR23086:SF46;PANTHER:PTHR23086;Gene3D:3.30.800.10;Pfam:PF01504;SMART:SM00330;Superfamily:SSF56104","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":5,"PHENO":"1","CONTEXT":"TCTTTCCCCGG","tumor_bam_uuid":"4c65be89-7737-4aeb-a93b-4ca5a91fcb0e","normal_bam_uuid":"34def750-7520-4be6-8a95-ac5090b93627","case_id":"f462cfef-f60a-4d3e-b92d-b8d8f50b6bb3","COSMIC":"COSM6182901","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2"}
{"X1":"317","Hugo_Symbol":"ZNF479","Entrez_Gene_Id":90827,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr7","Start_Position":57119947,"End_Position":57119947,"Strand":"+","Variant_Classification":"Nonsense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-95-A4VN-01A-11D-A25L-08","Matched_Norm_Sample_Barcode":"TCGA-95-A4VN-10A-01D-A25L-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"b8feb54d-00eb-477f-a51d-db8c9a7975f7","Matched_Norm_Sample_UUID":"b729a820-ac2f-4108-8265-f4852c3b7518","HGVSc":"c.1468G>T","HGVSp":"p.Glu490Ter","HGVSp_Short":"p.E490*","Transcript_ID":"ENST00000319636","Exon_Number":"4/4","t_depth":113,"t_ref_count":99,"t_alt_count":14,"n_depth":81,"all_effects":"ZNF479,stop_gained,p.E490*,ENST00000331162,NM_033273.2,c.1468G>T,HIGH,YES,,,-1;ZNF479,stop_gained,p.E490*,ENST00000319636,NM_001370129.1,c.1468G>T,HIGH,,,,-1","Allele":"A","Gene":"ENSG00000185177","Feature":"ENST00000319636","Feature_type":"Transcript","One_Consequence":"stop_gained","Consequence":"stop_gained","cDNA_position":"1485/1811","CDS_position":"1468/1575","Protein_position":"490/524","Amino_acids":"E/*","Codons":"Gag/Tag","Existing_variation":"COSV100483007","TRANSCRIPT_STRAND":-1,"SYMBOL":"ZNF479","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:23258","BIOTYPE":"protein_coding","CCDS":"CCDS43590.1","ENSP":"ENSP00000324518","SWISSPROT":"Q96JC4.154","UNIPARC":"UPI000006E615","RefSeq":"NM_001370129.1","APPRIS":"P1","EXON":"4/4","DOMAINS":"Gene3D:3.30.160.60;PROSITE_profiles:PS50157;PANTHER:PTHR24381;PANTHER:PTHR24381:SF295;Superfamily:SSF57667","SOMATIC":"1","IMPACT":"HIGH","VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","GENE_PHENO":"1","CONTEXT":"TTTCTCTCCAG","tumor_bam_uuid":"e36e09bc-e1bf-4516-b011-5bd5544da462","normal_bam_uuid":"b046e969-de7f-4e70-a8de-f65dc5dbedd9","case_id":"389f78a3-fa0b-406c-9434-aa0298341a8c","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"136","Hugo_Symbol":"GTF2F1","Entrez_Gene_Id":2962,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr19","Start_Position":6380408,"End_Position":6380408,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"T","Tumor_Seq_Allele1":"T","Tumor_Seq_Allele2":"G","Tumor_Sample_Barcode":"TCGA-05-4390-01A-02D-1753-08","Matched_Norm_Sample_Barcode":"TCGA-05-4390-10A-01D-1753-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"d0854b5b-69be-4b84-aa37-ecdd0bc14de9","Matched_Norm_Sample_UUID":"b9b0fda8-ff98-4d0b-905d-38d9464cd3ab","HGVSc":"c.1427A>C","HGVSp":"p.Lys476Thr","HGVSp_Short":"p.K476T","Transcript_ID":"ENST00000394456","Exon_Number":"13/13","t_depth":138,"t_ref_count":130,"t_alt_count":7,"n_depth":134,"all_effects":"GTF2F1,missense_variant,p.K476T,ENST00000394456,NM_002096.3,c.1427A>C,MODERATE,YES,deleterious(0),probably_damaging(0.998),-1;GTF2F1,missense_variant,p.K392T,ENST00000593678,,c.1175A>C,MODERATE,,deleterious(0),probably_damaging(1),-1;PSPN,upstream_gene_variant,,ENST00000245810,NM_004158.3,,MODIFIER,,,,-1;GTF2F1,downstream_gene_variant,,ENST00000595047,,,MODIFIER,,,,-1;PSPN,upstream_gene_variant,,ENST00000597721,,,MODIFIER,YES,,,-1;GTF2F1,non_coding_transcript_exon_variant,,ENST00000594213,,n.784A>C,MODIFIER,,,,-1;GTF2F1,non_coding_transcript_exon_variant,,ENST00000594965,,n.745A>C,MODIFIER,,,,-1","Allele":"G","Gene":"ENSG00000125651","Feature":"ENST00000394456","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"1596/2432","CDS_position":"1427/1554","Protein_position":"476/517","Amino_acids":"K/T","Codons":"aAg/aCg","Existing_variation":"COSV55532171","TRANSCRIPT_STRAND":-1,"SYMBOL":"GTF2F1","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:4652","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS12165.1","ENSP":"ENSP00000377969","SWISSPROT":"P35269.202","UNIPARC":"UPI000007323F","RefSeq":"NM_002096.3","MANE":"NM_002096.3","APPRIS":"P1","SIFT":"deleterious(0)","PolyPhen":"probably_damaging(0.998)","EXON":"13/13","DOMAINS":"PDB-ENSP_mappings:1i27.A;PDB-ENSP_mappings:1j2x.A;PDB-ENSP_mappings:1nha.A;PDB-ENSP_mappings:1onv.A;PDB-ENSP_mappings:2k7l.A;PDB-ENSP_mappings:5iy6.S;PDB-ENSP_mappings:5iy7.S;PDB-ENSP_mappings:5iy8.S;PDB-ENSP_mappings:5iy9.S;PDB-ENSP_mappings:5iya.S;PDB-ENSP_mappings:5iyb.S;PDB-ENSP_mappings:5iyc.S;PDB-ENSP_mappings:5iyd.S;PDB-ENSP_mappings:6o9l.S;PANTHER:PTHR13011;PANTHER:PTHR13011:SF0;Pfam:PF05793;Gene3D:1.10.10.10;Superfamily:SSF46785","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","CONTEXT":"GGAACTTTTTC","tumor_bam_uuid":"6117cc32-ed3d-4ce3-9f6a-38d453e38e83","normal_bam_uuid":"24178763-aa01-47ad-9d7d-79a917d99251","case_id":"b8475929-2d9d-4909-bd62-59684a140bd7","COSMIC":"COSM6086198","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2"}
{"X1":"123","Hugo_Symbol":"NIN","Entrez_Gene_Id":51199,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr14","Start_Position":50777096,"End_Position":50777096,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"A","dbSNP_RS":"rs1205506022","Tumor_Sample_Barcode":"TCGA-17-Z025-01A-01W-0746-08","Matched_Norm_Sample_Barcode":"TCGA-17-Z025-11A-01W-0746-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"99eab29e-32d3-49d5-aa30-56de8be556e7","Matched_Norm_Sample_UUID":"e77e7ede-a75b-457f-a132-7120368a422b","HGVSc":"c.519G>T","HGVSp":"p.Gln173His","HGVSp_Short":"p.Q173H","Transcript_ID":"ENST00000382041","Exon_Number":"7/30","t_depth":76,"t_ref_count":59,"t_alt_count":16,"n_depth":162,"all_effects":"NIN,missense_variant,p.Q173H,ENST00000530997,NM_020921.4,c.519G>T,MODERATE,YES,tolerated(0.09),benign(0.003),-1;NIN,missense_variant,p.Q173H,ENST00000476352,,c.519G>T,MODERATE,,tolerated(0.09),benign(0.003),-1;NIN,missense_variant,p.Q173H,ENST00000453196,NM_182944.2,c.519G>T,MODERATE,,tolerated(0.1),benign(0.046),-1;NIN,missense_variant,p.Q173H,ENST00000382041,NM_182946.1,c.519G>T,MODERATE,,tolerated(0.09),benign(0.01),-1;NIN,missense_variant,p.Q173H,ENST00000324330,NM_016350.4,c.519G>T,MODERATE,,tolerated(0.08),benign(0.003),-1;NIN,missense_variant,p.Q173H,ENST00000382043,,c.519G>T,MODERATE,,tolerated(0.08),benign(0.003),-1;NIN,missense_variant,p.Q135H,ENST00000453401,,c.405G>T,MODERATE,,tolerated(0.09),benign(0.01),-1;NIN,missense_variant,p.Q173H,ENST00000674030,,c.519G>T,MODERATE,,tolerated(0.09),benign(0.009),-1;NIN,missense_variant,p.Q173H,ENST00000673657,,c.519G>T,MODERATE,,tolerated(0.09),benign(0.01),-1;NIN,upstream_gene_variant,,ENST00000474937,,,MODIFIER,,,,-1","Allele":"A","Gene":"ENSG00000100503","Feature":"ENST00000382041","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"710/6496","CDS_position":"519/6273","Protein_position":"173/2090","Amino_acids":"Q/H","Codons":"caG/caT","Existing_variation":"rs1205506022","TRANSCRIPT_STRAND":-1,"SYMBOL":"NIN","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:14906","BIOTYPE":"protein_coding","CCDS":"CCDS32079.1","ENSP":"ENSP00000371472","SWISSPROT":"Q8N4C6.165","UNIPARC":"UPI0000DBEF14","UNIPROT_ISOFORM":"Q8N4C6-1","RefSeq":"NM_182946.1","APPRIS":"A2","SIFT":"tolerated(0.09)","PolyPhen":"benign(0.01)","EXON":"7/30","DOMAINS":"PANTHER:PTHR18905;PANTHER:PTHR18905:SF11;Superfamily:SSF47473","IMPACT":"MODERATE","VARIANT_CLASS":"SNV","TSL":1,"GENE_PHENO":"1","CONTEXT":"CCACTCTGTGA","tumor_bam_uuid":"7d95e1bf-9992-43c9-9294-3c5dd6c696a2","normal_bam_uuid":"7088d60f-1d2a-4472-bbd0-352b94b40a30","case_id":"abb86d09-d4ff-41f4-ba22-185dc48347c9","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"538","Hugo_Symbol":"INTS6L","Entrez_Gene_Id":203522,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chrX","Start_Position":135545422,"End_Position":135545422,"Strand":"+","Variant_Classification":"Splice_Site","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"T","Tumor_Sample_Barcode":"TCGA-97-A4M0-01A-11D-A24P-08","Matched_Norm_Sample_Barcode":"TCGA-97-A4M0-10A-01D-A24P-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"58122437-27d5-4b5f-b079-159eac81cac7","Matched_Norm_Sample_UUID":"d1116b23-9441-41d1-b7d3-c5422e84f023","HGVSc":"c.190-1G>T","HGVSp_Short":"p.X64_splice","Transcript_ID":"ENST00000370752","t_depth":65,"t_ref_count":47,"t_alt_count":18,"n_depth":86,"all_effects":"INTS6L,splice_acceptor_variant,p.X64_splice,ENST00000370752,NM_182540.6&NM_001351603.2&NM_001351604.2&NM_001351605.2&NM_001351606.2,c.190-1G>T,HIGH,,,,1;INTS6L,splice_acceptor_variant,p.X64_splice,ENST00000639893,NM_001351601.3,c.190-1G>T,HIGH,YES,,,1;INTS6L,splice_acceptor_variant,,ENST00000481908,,n.524-1G>T,HIGH,,,,1;INTS6L,splice_acceptor_variant,,ENST00000493637,,n.190-1G>T,HIGH,,,,1","Allele":"T","Gene":"ENSG00000165359","Feature":"ENST00000370752","Feature_type":"Transcript","One_Consequence":"splice_acceptor_variant","Consequence":"splice_acceptor_variant","Existing_variation":"COSV100878299","TRANSCRIPT_STRAND":1,"SYMBOL":"INTS6L","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:27334","BIOTYPE":"protein_coding","CCDS":"CCDS35401.1","ENSP":"ENSP00000359788","SWISSPROT":"Q5JSJ4.122","UNIPARC":"UPI00004A3AAF","UNIPROT_ISOFORM":"Q5JSJ4-1","RefSeq":"NM_182540.6;NM_001351603.2;NM_001351604.2;NM_001351605.2;NM_001351606.2","APPRIS":"P4","INTRON":"2/16","SOMATIC":"1","IMPACT":"HIGH","VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","CONTEXT":"TTGCAGGCTGG","tumor_bam_uuid":"edd268e8-6a62-436a-85b5-c8dd153f4bc0","normal_bam_uuid":"95b47cb8-d061-4f97-b2e0-91e923f6935a","case_id":"dd63d0fd-e24b-40a5-88c5-7d3d4106631e","GDC_FILTER":"NonExonic","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"186","Hugo_Symbol":"RAD51AP2","Entrez_Gene_Id":729475,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr2","Start_Position":17516330,"End_Position":17516330,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-05-4415-01A-22D-1855-08","Matched_Norm_Sample_Barcode":"TCGA-05-4415-10A-01D-1855-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"128f52c7-49dc-4a9f-a5bc-1c14684edc9c","Matched_Norm_Sample_UUID":"1339361e-fe70-4584-a7cd-946ccd8476bc","HGVSc":"c.2086G>T","HGVSp":"p.Asp696Tyr","HGVSp_Short":"p.D696Y","Transcript_ID":"ENST00000399080","Exon_Number":"1/3","t_depth":91,"t_ref_count":59,"t_alt_count":32,"n_depth":100,"all_effects":"RAD51AP2,missense_variant,p.D696Y,ENST00000399080,NM_001099218.3&NM_001321233.1,c.2086G>T,MODERATE,YES,deleterious(0),benign(0.322),-1","Allele":"A","Gene":"ENSG00000214842","Feature":"ENST00000399080","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"2110/3724","CDS_position":"2086/3480","Protein_position":"696/1159","Amino_acids":"D/Y","Codons":"Gac/Tac","Existing_variation":"COSV67587721","TRANSCRIPT_STRAND":-1,"SYMBOL":"RAD51AP2","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:34417","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS42656.1","ENSP":"ENSP00000382030","SWISSPROT":"Q09MP3.84","UNIPARC":"UPI0000418FD4","RefSeq":"NM_001099218.3;NM_001321233.1","APPRIS":"P1","SIFT":"deleterious(0)","PolyPhen":"benign(0.322)","EXON":"1/3","DOMAINS":"PANTHER:PTHR15361:SF6;PANTHER:PTHR15361","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","CONTEXT":"CATGTCATCAA","tumor_bam_uuid":"357c4420-3d7f-47ee-8eff-16d4d5cbd6c5","normal_bam_uuid":"72453bbe-e68f-45b2-9505-f39144709158","case_id":"d15b7b29-c5c5-41d8-b83b-7cc12fe92820","COSMIC":"COSM6089111","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"43","Hugo_Symbol":"USH2A","Entrez_Gene_Id":7399,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr1","Start_Position":215798940,"End_Position":215798940,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"T","dbSNP_RS":"novel","Tumor_Sample_Barcode":"TCGA-17-Z028-01A-01W-0746-08","Matched_Norm_Sample_Barcode":"TCGA-17-Z028-11A-01W-0746-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"1f55fb6e-342a-41e0-9a8e-7c5156c95eaa","Matched_Norm_Sample_UUID":"db39d913-94bb-4e90-8fea-7b6080f9303e","HGVSc":"c.9925G>A","HGVSp":"p.Gly3309Arg","HGVSp_Short":"p.G3309R","Transcript_ID":"ENST00000307340","Exon_Number":"50/72","t_depth":129,"t_ref_count":112,"t_alt_count":17,"n_depth":122,"all_effects":"USH2A,missense_variant,p.G3309R,ENST00000674083,,c.9925G>A,MODERATE,YES,deleterious(0.01),possibly_damaging(0.862),-1;USH2A,missense_variant,p.G3309R,ENST00000307340,NM_206933.4,c.9925G>A,MODERATE,,deleterious(0.01),possibly_damaging(0.844),-1","Allele":"T","Gene":"ENSG00000042781","Feature":"ENST00000307340","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"10364/18938","CDS_position":"9925/15609","Protein_position":"3309/5202","Amino_acids":"G/R","Codons":"Gga/Aga","TRANSCRIPT_STRAND":-1,"SYMBOL":"USH2A","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:12601","BIOTYPE":"protein_coding","CCDS":"CCDS31025.1","ENSP":"ENSP00000305941","SWISSPROT":"O75445.173","UNIPARC":"UPI000034E5B6","UNIPROT_ISOFORM":"O75445-1","RefSeq":"NM_206933.4","MANE":"NM_206933.4","APPRIS":"P4","SIFT":"deleterious(0.01)","PolyPhen":"possibly_damaging(0.844)","EXON":"50/72","DOMAINS":"SMART:SM00060","IMPACT":"MODERATE","VARIANT_CLASS":"SNV","TSL":1,"GENE_PHENO":"1","CONTEXT":"TTCTCCACCAC","tumor_bam_uuid":"3d22cfca-1c61-41ec-a983-e449429bec92","normal_bam_uuid":"cef25629-f5c4-483a-ae82-32e3f12d421b","case_id":"87eeaf49-3c02-402f-9ae4-3627391e7749","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"385","Hugo_Symbol":"XIRP2","Entrez_Gene_Id":129446,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr2","Start_Position":167248559,"End_Position":167248559,"Strand":"+","Variant_Classification":"Silent","Variant_Type":"SNP","Reference_Allele":"T","Tumor_Seq_Allele1":"T","Tumor_Seq_Allele2":"C","Tumor_Sample_Barcode":"TCGA-91-8499-01A-11D-2393-08","Matched_Norm_Sample_Barcode":"TCGA-91-8499-10A-01D-2393-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"8ad9a3e2-9456-4bea-8ee9-50f9ebad837e","Matched_Norm_Sample_UUID":"7ffc6e72-c5aa-41dc-b966-6a8d40bd9367","HGVSc":"c.6642T>C","HGVSp":"p.Ser2214=","HGVSp_Short":"p.S2214=","Transcript_ID":"ENST00000628543","Exon_Number":"7/9","t_depth":128,"t_ref_count":93,"t_alt_count":35,"n_depth":128,"all_effects":"XIRP2,synonymous_variant,p.S2389=,ENST00000409195,NM_152381.6,c.7167T>C,LOW,,,,1;XIRP2,synonymous_variant,p.S2167=,ENST00000409273,NM_001199144.2,c.6501T>C,LOW,,,,1;XIRP2,synonymous_variant,p.S2214=,ENST00000628543,,c.6642T>C,LOW,,,,1;XIRP2,synonymous_variant,p.S2167=,ENST00000672671,,c.6501T>C,LOW,YES,,,1;XIRP2,intron_variant,,ENST00000409043,NM_001079810.3,c.1177-5473T>C,MODIFIER,,,,1;XIRP2,intron_variant,,ENST00000409605,NM_001199145.2,c.511-5473T>C,MODIFIER,,,,1;XIRP2,intron_variant,,ENST00000409728,NM_001199143.1,c.1276-5473T>C,MODIFIER,,,,1;XIRP2,intron_variant,,ENST00000672716,,c.1201-5473T>C,MODIFIER,,,,1;XIRP2,upstream_gene_variant,,ENST00000295237,,,MODIFIER,,,,1;XIRP2,non_coding_transcript_exon_variant,,ENST00000672277,,n.6723T>C,MODIFIER,,,,1","Allele":"C","Gene":"ENSG00000163092","Feature":"ENST00000628543","Feature_type":"Transcript","One_Consequence":"synonymous_variant","Consequence":"synonymous_variant","cDNA_position":"6767/12182","CDS_position":"6642/10125","Protein_position":"2214/3374","Amino_acids":"S","Codons":"agT/agC","Existing_variation":"COSV99742935;COSV99743957","TRANSCRIPT_STRAND":1,"SYMBOL":"XIRP2","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:14303","BIOTYPE":"protein_coding","ENSP":"ENSP00000486198","SWISSPROT":"A4UGR9.109","UNIPARC":"UPI000163AC97","UNIPROT_ISOFORM":"A4UGR9-1","EXON":"7/9","DOMAINS":"MobiDB_lite:mobidb-lite;MobiDB_lite:mobidb-lite;PANTHER:PTHR22591:SF1;PANTHER:PTHR22591","SOMATIC":"1;1","IMPACT":"LOW","VARIANT_CLASS":"SNV","TSL":5,"PHENO":"1;1","CONTEXT":"CACAGTGGAGA","tumor_bam_uuid":"6bdebfb9-161a-4c1d-a7c9-69fe5092c8d1","normal_bam_uuid":"44c1b3d3-681a-4ecb-9e7b-7a3fc6fc1080","case_id":"54480f58-7e63-4aed-a116-c2c2252e8364","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"138","Hugo_Symbol":"VPS13B","Entrez_Gene_Id":157680,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr8","Start_Position":99823897,"End_Position":99823897,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"T","Tumor_Sample_Barcode":"TCGA-55-A490-01A-11D-A24D-08","Matched_Norm_Sample_Barcode":"TCGA-55-A490-10A-01D-A24F-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"74d5cba2-8a3c-454c-8f94-e8d477dca675","Matched_Norm_Sample_UUID":"41817231-26ea-46b4-9568-170042b1bbfd","HGVSc":"c.9324G>T","HGVSp":"p.Lys3108Asn","HGVSp_Short":"p.K3108N","Transcript_ID":"ENST00000358544","Exon_Number":"51/62","t_depth":76,"t_ref_count":66,"t_alt_count":10,"n_depth":50,"all_effects":"VPS13B,missense_variant,p.K3108N,ENST00000358544,NM_017890.5,c.9324G>T,MODERATE,YES,deleterious(0.02),benign(0.205),1;VPS13B,missense_variant,p.K3083N,ENST00000357162,NM_152564.5,c.9249G>T,MODERATE,,deleterious(0.02),possibly_damaging(0.55),1","Allele":"T","Gene":"ENSG00000132549","Feature":"ENST00000358544","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"9435/14094","CDS_position":"9324/12069","Protein_position":"3108/4022","Amino_acids":"K/N","Codons":"aaG/aaT","Existing_variation":"COSV100660832","TRANSCRIPT_STRAND":1,"SYMBOL":"VPS13B","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:2183","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS6280.1","ENSP":"ENSP00000351346","SWISSPROT":"Q7Z7G8.140","UNIPARC":"UPI00001D2D35","UNIPROT_ISOFORM":"Q7Z7G8-1","RefSeq":"NM_017890.5","APPRIS":"P4","SIFT":"deleterious(0.02)","PolyPhen":"benign(0.205)","EXON":"51/62","DOMAINS":"PANTHER:PTHR12517","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","GENE_PHENO":"1","CONTEXT":"GACAAGACTAC","tumor_bam_uuid":"34ca0b9c-2356-4e07-bca5-c24b36aaa984","normal_bam_uuid":"d7238a70-7ce1-45c3-81f0-de772c95462d","case_id":"b89de053-d253-447f-952e-9a2edcf6bca5","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"451","Hugo_Symbol":"PLCG1","Entrez_Gene_Id":5335,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr20","Start_Position":41165752,"End_Position":41165752,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"T","Tumor_Sample_Barcode":"TCGA-05-4397-01A-01D-1265-08","Matched_Norm_Sample_Barcode":"TCGA-05-4397-10A-01D-1265-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"4b7be121-49af-4a44-95dd-0a487d47228f","Matched_Norm_Sample_UUID":"abaccb0a-5f60-45d6-aea2-6fb33a82b011","HGVSc":"c.1725G>T","HGVSp":"p.Glu575Asp","HGVSp_Short":"p.E575D","Transcript_ID":"ENST00000373271","Exon_Number":"16/32","t_depth":136,"t_ref_count":71,"t_alt_count":65,"n_depth":104,"all_effects":"PLCG1,missense_variant,p.E575D,ENST00000373271,NM_182811.2,c.1725G>T,MODERATE,,deleterious(0.04),probably_damaging(0.996),1;PLCG1,missense_variant,p.E575D,ENST00000244007,NM_002660.3,c.1725G>T,MODERATE,YES,deleterious(0.04),probably_damaging(0.996),1;PLCG1,upstream_gene_variant,,ENST00000612731,,,MODIFIER,,,,1;MIR6871,upstream_gene_variant,,ENST00000613433,,,MODIFIER,YES,,,1;PLCG1,downstream_gene_variant,,ENST00000483646,,,MODIFIER,,,,1;PLCG1,upstream_gene_variant,,ENST00000617873,,,MODIFIER,,,,1;PLCG1,upstream_gene_variant,,ENST00000619272,,,MODIFIER,,,,1;PLCG1,non_coding_transcript_exon_variant,,ENST00000473632,,n.304G>T,MODIFIER,,,,1;PLCG1,upstream_gene_variant,,ENST00000465571,,,MODIFIER,,,,1;PLCG1,downstream_gene_variant,,ENST00000470528,,,MODIFIER,,,,1;PLCG1,upstream_gene_variant,,ENST00000477870,,,MODIFIER,,,,1;PLCG1,upstream_gene_variant,,ENST00000483175,,,MODIFIER,,,,1;PLCG1,downstream_gene_variant,,ENST00000492148,,,MODIFIER,,,,1;PLCG1,upstream_gene_variant,,ENST00000599785,,,MODIFIER,,,,1","Allele":"T","Gene":"ENSG00000124181","Feature":"ENST00000373271","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"2130/7395","CDS_position":"1725/3873","Protein_position":"575/1290","Amino_acids":"E/D","Codons":"gaG/gaT","Existing_variation":"COSV54820276","TRANSCRIPT_STRAND":1,"SYMBOL":"PLCG1","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:9065","BIOTYPE":"protein_coding","CCDS":"CCDS13314.1","ENSP":"ENSP00000362368","SWISSPROT":"P19174.243","UNIPARC":"UPI0000131AA5","UNIPROT_ISOFORM":"P19174-1","RefSeq":"NM_182811.2","APPRIS":"A1","SIFT":"deleterious(0.04)","PolyPhen":"probably_damaging(0.996)","EXON":"16/32","DOMAINS":"PDB-ENSP_mappings:4ey0.A;PDB-ENSP_mappings:4ey0.B;PDB-ENSP_mappings:4ey0.C;PDB-ENSP_mappings:4ey0.D;PDB-ENSP_mappings:4fbn.A;CDD:cd10341;Gene3D:3.30.505.10;Pfam:PF00017;PIRSF:PIRSF000952;SMART:SM00252;SMART:SM00233;Superfamily:SSF51695;Superfamily:SSF55550;PROSITE_profiles:PS50001;PANTHER:PTHR10336;PANTHER:PTHR10336:SF173","SOMATIC":"1","IMPACT":"MODERATE","VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","GENE_PHENO":"1","CONTEXT":"ATCGAGACCGG","tumor_bam_uuid":"539739e4-b59c-49ef-a7a5-3d597dd16ce4","normal_bam_uuid":"27b8d631-9c36-467c-a49a-d278004e906e","case_id":"6dfd47d2-831a-4386-9051-f78199a16bb5","COSMIC":"COSM6093104","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"518","Hugo_Symbol":"CPZ","Entrez_Gene_Id":8532,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr4","Start_Position":8606150,"End_Position":8606150,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"A","Tumor_Seq_Allele1":"A","Tumor_Seq_Allele2":"G","Tumor_Sample_Barcode":"TCGA-53-7626-01A-12D-2063-08","Matched_Norm_Sample_Barcode":"TCGA-53-7626-10A-01D-2063-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"0dc05a31-557a-4026-af11-f2dfdb91d5f3","Matched_Norm_Sample_UUID":"5eea1eb3-ae16-4285-a8cb-d71ebfaa362b","HGVSc":"c.871A>G","HGVSp":"p.Met291Val","HGVSp_Short":"p.M291V","Transcript_ID":"ENST00000360986","Exon_Number":"5/11","t_depth":17,"t_ref_count":13,"t_alt_count":4,"n_depth":46,"all_effects":"CPZ,missense_variant,p.M154V,ENST00000382480,NM_001014448.2,c.460A>G,MODERATE,,deleterious(0),benign(0.388),1;CPZ,missense_variant,p.M291V,ENST00000360986,NM_001014447.3,c.871A>G,MODERATE,YES,deleterious(0.01),benign(0.388),1;CPZ,missense_variant,p.M280V,ENST00000315782,NM_003652.3,c.838A>G,MODERATE,,deleterious(0.04),benign(0.268),1;CPZ,downstream_gene_variant,,ENST00000504070,,,MODIFIER,,,,1;CPZ,downstream_gene_variant,,ENST00000506287,,,MODIFIER,,,,1;GPR78,3_prime_UTR_variant,,ENST00000514302,,c.*779A>G,MODIFIER,,,,1;CPZ,3_prime_UTR_variant,,ENST00000515606,,c.*924A>G,MODIFIER,,,,1;GPR78,non_coding_transcript_exon_variant,,ENST00000513120,,n.2381A>G,MODIFIER,,,,1;CPZ,downstream_gene_variant,,ENST00000514602,,,MODIFIER,,,,1","Allele":"G","Gene":"ENSG00000109625","Feature":"ENST00000360986","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"940/2163","CDS_position":"871/1959","Protein_position":"291/652","Amino_acids":"M/V","Codons":"Atg/Gtg","Existing_variation":"COSV59921859","TRANSCRIPT_STRAND":1,"SYMBOL":"CPZ","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:2333","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS33953.1","ENSP":"ENSP00000354255","SWISSPROT":"Q66K79.132","UNIPARC":"UPI000020BCC5","UNIPROT_ISOFORM":"Q66K79-1","RefSeq":"NM_001014447.3","MANE":"NM_001014447.3","APPRIS":"P4","SIFT":"deleterious(0.01)","PolyPhen":"benign(0.388)","EXON":"5/11","DOMAINS":"CDD:cd03867;Gene3D:3.40.630.10;Pfam:PF00246;Superfamily:SSF53187;PANTHER:PTHR11532;PANTHER:PTHR11532:SF63","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","CONTEXT":"CCTCCATGAAC","tumor_bam_uuid":"beec40ea-9b27-455b-bf87-019629f62a38","normal_bam_uuid":"bed2707c-4854-4268-9b86-597bb05dbca7","case_id":"d3ff328c-2488-47bd-8663-366b6812c7b5","COSMIC":"COSM6168392","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"443","Hugo_Symbol":"NLRX1","Entrez_Gene_Id":79671,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr11","Start_Position":119175115,"End_Position":119175116,"Strand":"+","Variant_Classification":"Frame_Shift_Ins","Variant_Type":"INS","Reference_Allele":"-","Tumor_Seq_Allele1":"-","Tumor_Seq_Allele2":"T","dbSNP_RS":"novel","Tumor_Sample_Barcode":"TCGA-05-4425-01A-01D-1753-08","Matched_Norm_Sample_Barcode":"TCGA-05-4425-10A-01D-1753-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"4a367804-9934-4241-90da-0ba0245564bd","Matched_Norm_Sample_UUID":"9fdb4cff-c29d-4070-a847-7cb92547cd6e","HGVSc":"c.1513dup","HGVSp":"p.Tyr505LeufsTer20","HGVSp_Short":"p.Y505Lfs*20","Transcript_ID":"ENST00000292199","Exon_Number":"6/10","t_depth":79,"t_ref_count":55,"t_alt_count":24,"n_depth":37,"all_effects":"NLRX1,frameshift_variant,p.Y505Lfs*20,ENST00000409109,NM_001282144.2,c.1513dup,HIGH,YES,,,1;NLRX1,frameshift_variant,p.Y505Lfs*20,ENST00000292199,NM_024618.4,c.1513dup,HIGH,,,,1;NLRX1,frameshift_variant,p.Y505Lfs*20,ENST00000409991,NM_001282143.2,c.1513dup,HIGH,,,,1;NLRX1,frameshift_variant,p.Y505Lfs*20,ENST00000409265,NM_001282358.1,c.1513dup,HIGH,,,,1;NLRX1,frameshift_variant,p.Y505Lfs*20,ENST00000525863,,c.1513dup,HIGH,,,,1;NLRX1,downstream_gene_variant,,ENST00000422249,,,MODIFIER,,,,1;NLRX1,downstream_gene_variant,,ENST00000449394,,,MODIFIER,,,,1;NLRX1,downstream_gene_variant,,ENST00000454811,,,MODIFIER,,,,1;NLRX1,downstream_gene_variant,,ENST00000468765,,,MODIFIER,,,,1;NLRX1,upstream_gene_variant,,ENST00000469103,,,MODIFIER,,,,1;NLRX1,downstream_gene_variant,,ENST00000474751,,,MODIFIER,,,,1;NLRX1,downstream_gene_variant,,ENST00000482180,,,MODIFIER,,,,1;NLRX1,non_coding_transcript_exon_variant,,ENST00000481860,,n.1644dup,MODIFIER,,,,1;NLRX1,downstream_gene_variant,,ENST00000524562,,,MODIFIER,,,,1","Allele":"T","Gene":"ENSG00000160703","Feature":"ENST00000292199","Feature_type":"Transcript","One_Consequence":"frameshift_variant","Consequence":"frameshift_variant","cDNA_position":"1753-1754/3744","CDS_position":"1512-1513/2928","Protein_position":"504-505/975","Amino_acids":"-/X","Codons":"-/T","TRANSCRIPT_STRAND":1,"SYMBOL":"NLRX1","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:29890","BIOTYPE":"protein_coding","CCDS":"CCDS8416.1","ENSP":"ENSP00000292199","SWISSPROT":"Q86UT6.150","UNIPARC":"UPI0000161217","UNIPROT_ISOFORM":"Q86UT6-1","RefSeq":"NM_024618.4","APPRIS":"P1","EXON":"6/10","DOMAINS":"PANTHER:PTHR24114;PANTHER:PTHR24114:SF31","IMPACT":"HIGH","VARIANT_CLASS":"insertion","TSL":1,"HGVS_OFFSET":1,"CONTEXT":"GCCCTCTACAT","tumor_bam_uuid":"7ce5bcf3-b848-45d0-a35c-801326fc184d","normal_bam_uuid":"ba01413e-3246-4740-b2b7-7b836a175736","case_id":"69b23036-add9-42c9-941f-02fb74d9b08c","hotspot":"N","RNA_Support":"Unknown","callers":"mutect2;pindel;varscan2"}
{"X1":"466","Hugo_Symbol":"CLEC4F","Entrez_Gene_Id":165530,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr2","Start_Position":70816117,"End_Position":70816117,"Strand":"+","Variant_Classification":"Nonsense_Mutation","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-05-4395-01A-01D-1265-08","Matched_Norm_Sample_Barcode":"TCGA-05-4395-10A-01D-1265-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"dc45b4de-4c03-4fe4-89e0-d1cf378084b6","Matched_Norm_Sample_UUID":"9e14ff2f-9657-4899-b988-f3b449284d39","HGVSc":"c.1264C>T","HGVSp":"p.Gln422Ter","HGVSp_Short":"p.Q422*","Transcript_ID":"ENST00000272367","Exon_Number":"4/7","t_depth":67,"t_ref_count":37,"t_alt_count":30,"n_depth":77,"all_effects":"CLEC4F,stop_gained,p.Q422*,ENST00000272367,NM_001258027.2&NM_173535.3,c.1264C>T,HIGH,YES,,,-1;CLEC4F,stop_gained,p.Q422*,ENST00000426626,NM_001321308.2,c.1264C>T,HIGH,,,,-1;MOB4P1,upstream_gene_variant,,ENST00000451333,,,MODIFIER,YES,,,-1","Allele":"A","Gene":"ENSG00000152672","Feature":"ENST00000272367","Feature_type":"Transcript","One_Consequence":"stop_gained","Consequence":"stop_gained","cDNA_position":"1340/2474","CDS_position":"1264/1770","Protein_position":"422/589","Amino_acids":"Q/*","Codons":"Cag/Tag","Existing_variation":"COSV55479312","TRANSCRIPT_STRAND":-1,"SYMBOL":"CLEC4F","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:25357","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS1910.1","ENSP":"ENSP00000272367","SWISSPROT":"Q8N1N0.140","UNIPARC":"UPI0000376BCC","UNIPROT_ISOFORM":"Q8N1N0-1","RefSeq":"NM_001258027.2;NM_173535.3","MANE":"NM_173535.3","APPRIS":"P4","EXON":"4/7","DOMAINS":"Coiled-coils_(Ncoils):Coil;PANTHER:PTHR22802;PANTHER:PTHR22802:SF238;Gene3D:3.10.100.10","SOMATIC":"1","IMPACT":"HIGH","PICK":1,"VARIANT_CLASS":"SNV","TSL":2,"PHENO":"1","CONTEXT":"CCTCTGGATCT","tumor_bam_uuid":"cb7d7897-0b60-4754-bf80-bd3e4e9a4462","normal_bam_uuid":"20dcf8e8-ec0f-45b4-9099-5ad5f9c83d26","case_id":"762dea8a-5b41-4058-979a-b7876ed13d7e","COSMIC":"COSM6092032","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"179","Hugo_Symbol":"TXLNB","Entrez_Gene_Id":167838,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr6","Start_Position":139242875,"End_Position":139242875,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"T","dbSNP_RS":"rs1481739368","Tumor_Sample_Barcode":"TCGA-86-8073-01A-11D-2238-08","Matched_Norm_Sample_Barcode":"TCGA-86-8073-10A-01D-2238-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"b7268ee3-2840-467c-9e11-8e269ccc60a8","Matched_Norm_Sample_UUID":"653e6401-123b-4136-b07b-26c50359235e","HGVSc":"c.1706G>A","HGVSp":"p.Ser569Asn","HGVSp_Short":"p.S569N","Transcript_ID":"ENST00000358430","Exon_Number":"10/10","t_depth":95,"t_ref_count":79,"t_alt_count":15,"n_depth":81,"all_effects":"TXLNB,missense_variant,p.S569N,ENST00000358430,NM_153235.4,c.1706G>A,MODERATE,YES,tolerated_low_confidence(1),benign(0),-1;AL158850.1,intron_variant,,ENST00000585874,,n.171+1720G>A,MODIFIER,,,,-1;AL158850.1,intron_variant,,ENST00000612486,,n.769+1720G>A,MODIFIER,,,,-1;AL158850.1,intron_variant,,ENST00000616537,,n.942+1720G>A,MODIFIER,YES,,,-1;AL158850.1,intron_variant,,ENST00000617538,,n.444+1720G>A,MODIFIER,,,,-1;AL158850.1,intron_variant,,ENST00000621913,,n.785-3618G>A,MODIFIER,,,,-1;AL031772.1,upstream_gene_variant,,ENST00000415194,,,MODIFIER,,,,-1;AL031772.1,upstream_gene_variant,,ENST00000585447,,,MODIFIER,,,,-1;AL031772.1,upstream_gene_variant,,ENST00000586229,,,MODIFIER,,,,-1;AL031772.1,upstream_gene_variant,,ENST00000586266,,,MODIFIER,,,,-1;AL031772.1,upstream_gene_variant,,ENST00000587333,,,MODIFIER,,,,-1;AL031772.1,upstream_gene_variant,,ENST00000587577,,,MODIFIER,,,,-1;AL031772.1,upstream_gene_variant,,ENST00000587814,,,MODIFIER,,,,-1;AL031772.1,upstream_gene_variant,,ENST00000588529,,,MODIFIER,YES,,,-1;AL031772.1,upstream_gene_variant,,ENST00000588638,,,MODIFIER,,,,-1;AL031772.1,upstream_gene_variant,,ENST00000589192,,,MODIFIER,,,,-1;AL031772.1,upstream_gene_variant,,ENST00000590219,,,MODIFIER,,,,-1;AL031772.1,upstream_gene_variant,,ENST00000590679,,,MODIFIER,,,,-1;AL031772.1,upstream_gene_variant,,ENST00000591102,,,MODIFIER,,,,-1;AL031772.1,upstream_gene_variant,,ENST00000592557,,,MODIFIER,,,,-1;AL031772.1,upstream_gene_variant,,ENST00000619494,,,MODIFIER,,,,-1;AL031772.1,upstream_gene_variant,,ENST00000620411,,,MODIFIER,,,,-1;AL031772.1,upstream_gene_variant,,ENST00000649069,,,MODIFIER,,,,-1","Allele":"T","Gene":"ENSG00000164440","Feature":"ENST00000358430","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"1798/4612","CDS_position":"1706/2055","Protein_position":"569/684","Amino_acids":"S/N","Codons":"aGt/aAt","Existing_variation":"rs1481739368;COSV100624899","TRANSCRIPT_STRAND":-1,"SYMBOL":"TXLNB","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:21617","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS34545.1","ENSP":"ENSP00000351206","SWISSPROT":"Q8N3L3.125","UNIPARC":"UPI0000072983","RefSeq":"NM_153235.4","MANE":"NM_153235.4","APPRIS":"P1","SIFT":"tolerated_low_confidence(1)","PolyPhen":"benign(0)","EXON":"10/10","DOMAINS":"MobiDB_lite:mobidb-lite;PANTHER:PTHR16127;PANTHER:PTHR16127:SF10","gnomAD_AF":"3.98e-06","gnomAD_AFR_AF":"0","gnomAD_AMR_AF":"0","gnomAD_ASJ_AF":"0","gnomAD_EAS_AF":"0","gnomAD_FIN_AF":"0","gnomAD_NFE_AF":"8.803e-06","gnomAD_OTH_AF":"0","gnomAD_SAS_AF":"0","MAX_AF":"8.803e-06","MAX_AF_POPS":"gnomAD_NFE","gnomAD_non_cancer_AF":"6.75968021823792e-06","gnomAD_non_cancer_AFR_AF":"0","gnomAD_non_cancer_AMI_AF":"0","gnomAD_non_cancer_AMR_AF":"0","gnomAD_non_cancer_ASJ_AF":"0","gnomAD_non_cancer_EAS_AF":"0","gnomAD_non_cancer_FIN_AF":"0","gnomAD_non_cancer_MID_AF":"0","gnomAD_non_cancer_NFE_AF":"0","gnomAD_non_cancer_OTH_AF":"0","gnomAD_non_cancer_SAS_AF":"0.00020833300368394","SOMATIC":"0;1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"0;1","CONTEXT":"CATCACTGCCT","tumor_bam_uuid":"f9aa0e56-bd51-42c1-8e42-ca452b9748ff","normal_bam_uuid":"035edb39-aa44-4b26-b409-3558f2903753","case_id":"cd902d08-215e-4bd0-88e4-4fd01ab43cbf","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"346","Hugo_Symbol":"PDILT","Entrez_Gene_Id":204474,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr16","Start_Position":20369575,"End_Position":20369575,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"A","dbSNP_RS":"rs747898472","Tumor_Sample_Barcode":"TCGA-44-2656-01B-06D-A271-08","Matched_Norm_Sample_Barcode":"TCGA-44-2656-10A-01D-0969-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"4af6cb5c-4ca2-49c7-b0c5-9f777e172bde","Matched_Norm_Sample_UUID":"03b8420d-480f-48e1-88a7-8ee9917049a6","HGVSc":"c.1033G>T","HGVSp":"p.Ala345Ser","HGVSp_Short":"p.A345S","Transcript_ID":"ENST00000302451","Exon_Number":"8/12","t_depth":186,"t_ref_count":152,"t_alt_count":34,"n_depth":237,"all_effects":"PDILT,missense_variant,p.A345S,ENST00000302451,NM_174924.2,c.1033G>T,MODERATE,YES,deleterious(0.03),benign(0.101),-1","Allele":"A","Gene":"ENSG00000169340","Feature":"ENST00000302451","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"1282/2148","CDS_position":"1033/1755","Protein_position":"345/584","Amino_acids":"A/S","Codons":"Gcc/Tcc","Existing_variation":"rs747898472;COSV56699985;COSV56701372","TRANSCRIPT_STRAND":-1,"SYMBOL":"PDILT","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:27338","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS10584.1","ENSP":"ENSP00000305465","SWISSPROT":"Q8N807.140","UNIPARC":"UPI000000DAC6","RefSeq":"NM_174924.2","MANE":"NM_174924.2","APPRIS":"P1","SIFT":"deleterious(0.03)","PolyPhen":"benign(0.101)","EXON":"8/12","DOMAINS":"PDB-ENSP_mappings:4nwy.A;PDB-ENSP_mappings:4nwy.B;PDB-ENSP_mappings:4nwy.C;PDB-ENSP_mappings:4nwy.D;PDB-ENSP_mappings:5xf7.A;CDD:cd02982;PANTHER:PTHR18929:SF58;PANTHER:PTHR18929;Pfam:PF13848;Gene3D:3.40.30.10;Superfamily:SSF52833","SOMATIC":"0;1;1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"0;1;1","CONTEXT":"CCTGGCGTCAG","tumor_bam_uuid":"b91f5c4e-690a-4fe7-b0d0-e4b33c4ef398","normal_bam_uuid":"ada4ffdf-3ba5-4ad0-8eb4-634d04b2b9b8","case_id":"42ca54fc-c1ae-41cd-bca1-7fe9810db460","COSMIC":"COSM557076","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"467","Hugo_Symbol":"OR4N5","Entrez_Gene_Id":390437,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr14","Start_Position":20144078,"End_Position":20144078,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"T","Tumor_Sample_Barcode":"TCGA-49-AAR4-01A-12D-A410-08","Matched_Norm_Sample_Barcode":"TCGA-49-AAR4-11A-11D-A413-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"4b4bb82a-29cb-41b2-980c-24f420bab69c","Matched_Norm_Sample_UUID":"300d845f-d42d-440f-875c-bec93e9c5882","HGVSc":"c.343C>T","HGVSp":"p.Leu115Phe","HGVSp_Short":"p.L115F","Transcript_ID":"ENST00000333629","Exon_Number":"1/1","t_depth":136,"t_ref_count":126,"t_alt_count":10,"n_depth":193,"all_effects":"OR4N5,missense_variant,p.L115F,ENST00000641086,,c.343C>T,MODERATE,YES,deleterious(0),probably_damaging(0.999),1;OR4N5,missense_variant,p.L115F,ENST00000333629,NM_001004724.1,c.343C>T,MODERATE,,deleterious(0),probably_damaging(0.999),1","Allele":"T","Gene":"ENSG00000184394","Feature":"ENST00000333629","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"343/927","CDS_position":"343/927","Protein_position":"115/308","Amino_acids":"L/F","Codons":"Ctc/Ttc","Existing_variation":"COSV100374185","TRANSCRIPT_STRAND":1,"SYMBOL":"OR4N5","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:15358","BIOTYPE":"protein_coding","CCDS":"CCDS32031.1","ENSP":"ENSP00000332110","SWISSPROT":"Q8IXE1.137","TREMBL":"A0A126GVN4.31","UNIPARC":"UPI0000041C40","RefSeq":"NM_001004724.1","APPRIS":"P1","SIFT":"deleterious(0)","PolyPhen":"probably_damaging(0.999)","EXON":"1/1","DOMAINS":"Transmembrane_helices:TMhelix;PROSITE_profiles:PS50262;CDD:cd15937;PANTHER:PTHR26453:SF634;PANTHER:PTHR26453;PROSITE_patterns:PS00237;Pfam:PF13853;Gene3D:1.20.1070.10;Superfamily:SSF81321;Prints:PR00237","SOMATIC":"1","IMPACT":"MODERATE","VARIANT_CLASS":"SNV","PHENO":"1","CONTEXT":"TCCTCCTCGTT","tumor_bam_uuid":"ccb7243c-02db-4b1d-9789-b588ce58389a","normal_bam_uuid":"2e1ab9fd-cd5c-4862-a6a8-70eab196e4c2","case_id":"765ad5a5-134b-4680-a6d4-1dd113dc47cc","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2"}
{"X1":"504","Hugo_Symbol":"SEMA5A","Entrez_Gene_Id":9037,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr5","Start_Position":9154671,"End_Position":9154671,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"T","dbSNP_RS":"rs138343991","Tumor_Sample_Barcode":"TCGA-17-Z001-01A-01W-0746-08","Matched_Norm_Sample_Barcode":"TCGA-17-Z001-11A-01W-0746-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"d5e77555-9412-4e64-a6aa-65c996e3d521","Matched_Norm_Sample_UUID":"7d924dfd-11ca-4f47-b095-13685722d7ef","HGVSc":"c.1298G>A","HGVSp":"p.Arg433Gln","HGVSp_Short":"p.R433Q","Transcript_ID":"ENST00000382496","Exon_Number":"12/23","t_depth":101,"t_ref_count":83,"t_alt_count":17,"n_depth":102,"all_effects":"SEMA5A,missense_variant,p.R433Q,ENST00000382496,NM_003966.3,c.1298G>A,MODERATE,YES,tolerated(0.39),benign(0.303),-1;SEMA5A,missense_variant,p.R433Q,ENST00000652226,,c.1298G>A,MODERATE,,tolerated(0.39),benign(0.303),-1","Allele":"T","Gene":"ENSG00000112902","Feature":"ENST00000382496","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"1964/11755","CDS_position":"1298/3225","Protein_position":"433/1074","Amino_acids":"R/Q","Codons":"cGg/cAg","Existing_variation":"rs138343991;COSV66790750","TRANSCRIPT_STRAND":-1,"SYMBOL":"SEMA5A","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:10736","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS3875.1","ENSP":"ENSP00000371936","SWISSPROT":"Q13591.188","TREMBL":"X5DR95.46","UNIPARC":"UPI000004F25D","RefSeq":"NM_003966.3","MANE":"NM_003966.3","APPRIS":"P1","SIFT":"tolerated(0.39)","PolyPhen":"benign(0.303)","EXON":"12/23","DOMAINS":"Gene3D:2.130.10.10;Pfam:PF01403;PROSITE_profiles:PS51004;PANTHER:PTHR11036;PANTHER:PTHR11036:SF78;SMART:SM00630;Superfamily:SSF101912;CDD:cd11263","1000G_AF":"2e-04","1000G_AFR_AF":"0","1000G_AMR_AF":"0","1000G_EAS_AF":"0","1000G_EUR_AF":"0.001","1000G_SAS_AF":"0","gnomAD_AF":"8.405e-05","gnomAD_AFR_AF":"6.19e-05","gnomAD_AMR_AF":"0","gnomAD_ASJ_AF":"0","gnomAD_EAS_AF":"0.0002177","gnomAD_FIN_AF":"0","gnomAD_NFE_AF":"0.0001334","gnomAD_OTH_AF":"0.0001638","gnomAD_SAS_AF":"0","MAX_AF":"0.001","MAX_AF_POPS":"EUR","gnomAD_non_cancer_AF":"6.76498020766303e-05","gnomAD_non_cancer_AFR_AF":"9.72905036178418e-05","gnomAD_non_cancer_AMI_AF":"0","gnomAD_non_cancer_AMR_AF":"0","gnomAD_non_cancer_ASJ_AF":"0","gnomAD_non_cancer_EAS_AF":"0.00040733200148679","gnomAD_non_cancer_FIN_AF":"0","gnomAD_non_cancer_MID_AF":"0","gnomAD_non_cancer_NFE_AF":"6.17436016909778e-05","gnomAD_non_cancer_OTH_AF":"0","gnomAD_non_cancer_SAS_AF":"0","gnomAD_non_cancer_MAX_AF_adj":"0.00040733200148679","gnomAD_non_cancer_MAX_AF_POPS_adj":"eas","SOMATIC":"0;1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"0;1","GENE_PHENO":"1","CONTEXT":"GTACCCGCACT","tumor_bam_uuid":"e1c8e53f-a731-4e07-8f51-811784396315","normal_bam_uuid":"5bd82e30-f221-41b4-ac58-0e3cc27abc21","case_id":"aebd0313-23be-46a8-abc6-b16c531c3a8e","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"153","Hugo_Symbol":"ADCY7","Entrez_Gene_Id":113,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr16","Start_Position":50290593,"End_Position":50290593,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"T","dbSNP_RS":"novel","Tumor_Sample_Barcode":"TCGA-17-Z031-01A-01W-0746-08","Matched_Norm_Sample_Barcode":"TCGA-17-Z031-11A-01W-0746-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"6516244a-dfd8-4568-a2d2-7556cbea52b1","Matched_Norm_Sample_UUID":"691dc2f3-35d7-4b83-a51a-49ed1d4c2a07","HGVSc":"c.308G>T","HGVSp":"p.Cys103Phe","HGVSp_Short":"p.C103F","Transcript_ID":"ENST00000254235","Exon_Number":"2/25","t_depth":23,"t_ref_count":4,"t_alt_count":18,"n_depth":26,"all_effects":"ADCY7,missense_variant,p.C103F,ENST00000673801,NM_001114.5,c.308G>T,MODERATE,YES,deleterious(0.01),benign(0.277),1;ADCY7,missense_variant,p.C103F,ENST00000394697,,c.308G>T,MODERATE,,deleterious(0.01),benign(0.277),1;ADCY7,missense_variant,p.C103F,ENST00000254235,,c.308G>T,MODERATE,,deleterious(0.01),benign(0.277),1;ADCY7,missense_variant,p.C103F,ENST00000566433,NM_001286057.2,c.308G>T,MODERATE,,deleterious(0),probably_damaging(0.967),1;ADCY7,missense_variant,p.C103F,ENST00000537579,,c.308G>T,MODERATE,,deleterious(0.01),possibly_damaging(0.784),1;ADCY7,intron_variant,,ENST00000564044,,c.-63-2083G>T,MODIFIER,,,,1;ADCY7,downstream_gene_variant,,ENST00000564965,,,MODIFIER,,,,1;ADCY7,downstream_gene_variant,,ENST00000566761,,,MODIFIER,,,,1;ADCY7,downstream_gene_variant,,ENST00000569265,,,MODIFIER,,,,1;MIR6771,upstream_gene_variant,,ENST00000619793,,,MODIFIER,YES,,,1;ADCY7,intron_variant,,ENST00000563677,,n.69-2083G>T,MODIFIER,,,,1;ADCY7,downstream_gene_variant,,ENST00000568933,,,MODIFIER,,,,1;ADCY7,missense_variant,p.C103F,ENST00000673973,,c.308G>T,MODERATE,,deleterious(0.01),possibly_damaging(0.857),1;ADCY7,missense_variant,p.C103F,ENST00000567277,,c.308G>T,MODERATE,,deleterious(0.01),possibly_damaging(0.857),1","Allele":"T","Gene":"ENSG00000121281","Feature":"ENST00000254235","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"576/6138","CDS_position":"308/3243","Protein_position":"103/1080","Amino_acids":"C/F","Codons":"tGc/tTc","TRANSCRIPT_STRAND":1,"SYMBOL":"ADCY7","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:238","BIOTYPE":"protein_coding","CCDS":"CCDS10741.1","ENSP":"ENSP00000254235","SWISSPROT":"P51828.170","UNIPARC":"UPI000004C5DB","APPRIS":"P1","SIFT":"deleterious(0.01)","PolyPhen":"benign(0.277)","EXON":"2/25","DOMAINS":"Low_complexity_(Seg):seg;Transmembrane_helices:TMhelix;PANTHER:PTHR45627:SF9;PANTHER:PTHR45627;Pfam:PF16214;PIRSF:PIRSF039050","IMPACT":"MODERATE","VARIANT_CLASS":"SNV","TSL":1,"CONTEXT":"GGCCTGCTTGG","tumor_bam_uuid":"874092f9-5c52-4298-9651-0418633660b1","normal_bam_uuid":"bb97a9eb-2775-40c1-aecf-aa7e5b83a8f0","case_id":"c43c8eea-7014-4abe-b805-397a9062d3e0","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"605","Hugo_Symbol":"ZNF260","Entrez_Gene_Id":339324,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr19","Start_Position":36514627,"End_Position":36514627,"Strand":"+","Variant_Classification":"Silent","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"T","dbSNP_RS":"novel","Tumor_Sample_Barcode":"TCGA-17-Z030-01A-01W-0746-08","Matched_Norm_Sample_Barcode":"TCGA-17-Z030-11A-01W-0746-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"e35e27e8-6cc5-495b-9ae8-89f65d94ebed","Matched_Norm_Sample_UUID":"beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d","HGVSc":"c.612G>A","HGVSp":"p.Lys204=","HGVSp_Short":"p.K204=","Transcript_ID":"ENST00000523638","Exon_Number":"3/3","t_depth":65,"t_ref_count":56,"t_alt_count":9,"n_depth":71,"all_effects":"ZNF260,synonymous_variant,p.K204=,ENST00000523638,NM_001375596.1&NM_001166038.2&NM_001375598.1&NM_001166037.2&NM_001166036.2&NM_001375597.1,c.612G>A,LOW,YES,,,-1;ZNF260,synonymous_variant,p.K204=,ENST00000592282,NM_001012756.3,c.612G>A,LOW,,,,-1;ZNF260,synonymous_variant,p.K204=,ENST00000588993,,c.612G>A,LOW,,,,-1;ZNF260,synonymous_variant,p.K204=,ENST00000593142,,c.612G>A,LOW,,,,-1","Allele":"T","Gene":"ENSG00000254004","Feature":"ENST00000523638","Feature_type":"Transcript","One_Consequence":"synonymous_variant","Consequence":"synonymous_variant","cDNA_position":"1345/5285","CDS_position":"612/1239","Protein_position":"204/412","Amino_acids":"K","Codons":"aaG/aaA","TRANSCRIPT_STRAND":-1,"SYMBOL":"ZNF260","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:13499","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS33003.1","ENSP":"ENSP00000429803","SWISSPROT":"Q3ZCT1.128","UNIPARC":"UPI00001984F1","RefSeq":"NM_001375596.1;NM_001166038.2;NM_001375598.1;NM_001166037.2;NM_001166036.2;NM_001375597.1","MANE":"NM_001166037.2","APPRIS":"P1","EXON":"3/3","DOMAINS":"Gene3D:3.30.160.60;Pfam:PF00096;PROSITE_patterns:PS00028;PROSITE_profiles:PS50157;PANTHER:PTHR23226;PANTHER:PTHR23226;PANTHER:PTHR23226;PANTHER:PTHR23226:SF135;PANTHER:PTHR23226:SF135;PANTHER:PTHR23226:SF135;SMART:SM00355;Superfamily:SSF57667","IMPACT":"LOW","PICK":1,"VARIANT_CLASS":"SNV","TSL":2,"CONTEXT":"TTTTCCTTCTG","tumor_bam_uuid":"b0b04f9d-0f75-46ed-bdc6-76d24ce544cd","normal_bam_uuid":"abf42287-f549-4142-a8d2-4aa0635bc819","case_id":"fddc4d29-1ae8-451d-a13e-8ef6492be201","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"239","Hugo_Symbol":"EHD2","Entrez_Gene_Id":30846,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr19","Start_Position":47741209,"End_Position":47741209,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"T","Tumor_Sample_Barcode":"TCGA-95-7562-01A-11D-2238-08","Matched_Norm_Sample_Barcode":"TCGA-95-7562-10B-01D-2238-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"853da3d9-cb26-4c93-8f69-a1bc3beb845c","Matched_Norm_Sample_UUID":"3445d7d3-2dd3-4d43-b187-6ab1c720fd42","HGVSc":"c.1409C>T","HGVSp":"p.Ser470Phe","HGVSp_Short":"p.S470F","Transcript_ID":"ENST00000263277","Exon_Number":"6/6","t_depth":47,"t_ref_count":38,"t_alt_count":9,"n_depth":75,"all_effects":"EHD2,missense_variant,p.S470F,ENST00000263277,NM_014601.4,c.1409C>T,MODERATE,YES,deleterious(0.01),possibly_damaging(0.657),1;EHD2,missense_variant,p.S334F,ENST00000538399,,c.1001C>T,MODERATE,,deleterious(0),possibly_damaging(0.657),1;NOP53,upstream_gene_variant,,ENST00000246802,NM_015710.5,,MODIFIER,YES,,,1;EHD2,non_coding_transcript_exon_variant,,ENST00000540884,,n.559C>T,MODIFIER,,,,1;NOP53,upstream_gene_variant,,ENST00000598681,,,MODIFIER,,,,1;NOP53,upstream_gene_variant,,ENST00000599253,,,MODIFIER,,,,1;NOP53,upstream_gene_variant,,ENST00000599582,,,MODIFIER,,,,1;NOP53,upstream_gene_variant,,ENST00000594525,,,MODIFIER,,,,1;EHD2,downstream_gene_variant,,ENST00000596225,,,MODIFIER,,,,1;NOP53,upstream_gene_variant,,ENST00000600410,,,MODIFIER,,,,1","Allele":"T","Gene":"ENSG00000024422","Feature":"ENST00000263277","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"1581/3506","CDS_position":"1409/1632","Protein_position":"470/543","Amino_acids":"S/F","Codons":"tCc/tTc","Existing_variation":"COSV99621548","TRANSCRIPT_STRAND":1,"SYMBOL":"EHD2","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:3243","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS12704.1","ENSP":"ENSP00000263277","SWISSPROT":"Q9NZN4.174","TREMBL":"A0A024R0S6.42","UNIPARC":"UPI0000071B66","UNIPROT_ISOFORM":"Q9NZN4-1","RefSeq":"NM_014601.4","MANE":"NM_014601.4","APPRIS":"P1","SIFT":"deleterious(0.01)","PolyPhen":"possibly_damaging(0.657)","EXON":"6/6","DOMAINS":"PROSITE_profiles:PS50031;CDD:cd00052;PANTHER:PTHR11216;PANTHER:PTHR11216:SF62;Gene3D:1.10.238.10;Pfam:PF12763;SMART:SM00027;Superfamily:SSF47473","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","CONTEXT":"CGGCTCCAAGG","tumor_bam_uuid":"6479d88e-1bc7-4e14-bceb-dba954d31189","normal_bam_uuid":"0a627121-b3e0-4056-b5a3-10da0546e73e","case_id":"193201a3-1447-47b1-bdf1-11ae0eb3b2f3","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"5","Hugo_Symbol":"MSR1","Entrez_Gene_Id":4481,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr8","Start_Position":16168492,"End_Position":16168492,"Strand":"+","Variant_Classification":"Frame_Shift_Del","Variant_Type":"DEL","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"-","Tumor_Sample_Barcode":"TCGA-86-8674-01A-21D-2393-08","Matched_Norm_Sample_Barcode":"TCGA-86-8674-10A-01D-2393-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"5b63102c-8d78-4d50-b8cb-21114333de7c","Matched_Norm_Sample_UUID":"4e7f3670-9963-44ad-8c4b-f0c07720656c","HGVSc":"c.596del","HGVSp":"p.Gly199AlafsTer17","HGVSp_Short":"p.G199Afs*17","Transcript_ID":"ENST00000262101","Exon_Number":"4/10","t_depth":126,"t_ref_count":102,"t_alt_count":24,"n_depth":53,"all_effects":"MSR1,frameshift_variant,p.G199Afs*17,ENST00000262101,NM_138715.3,c.596del,HIGH,,,,-1;MSR1,frameshift_variant,p.G199Afs*17,ENST00000350896,NM_138716.2,c.596del,HIGH,,,,-1;MSR1,frameshift_variant,p.G199Afs*17,ENST00000381998,NM_002445.4,c.596del,HIGH,,,,-1;MSR1,frameshift_variant,p.G217Afs*17,ENST00000445506,NM_001363744.1,c.650del,HIGH,YES,,,-1;MSR1,frameshift_variant,p.G199Afs*17,ENST00000355282,,c.596del,HIGH,,,,-1;MSR1,upstream_gene_variant,,ENST00000522672,,,MODIFIER,,,,-1;MSR1,intron_variant,,ENST00000519060,,c.104-4241del,MODIFIER,,,,-1","Allele":"-","Gene":"ENSG00000038945","Feature":"ENST00000262101","Feature_type":"Transcript","One_Consequence":"frameshift_variant","Consequence":"frameshift_variant","cDNA_position":"654/3618","CDS_position":"596/1356","Protein_position":"199/451","Amino_acids":"G/X","Codons":"gGc/gc","Existing_variation":"COSV50525684;COSV50545817","TRANSCRIPT_STRAND":-1,"SYMBOL":"MSR1","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:7376","BIOTYPE":"protein_coding","CCDS":"CCDS5995.1","ENSP":"ENSP00000262101","SWISSPROT":"P21757.199","UNIPARC":"UPI000012F686","UNIPROT_ISOFORM":"P21757-1","RefSeq":"NM_138715.3","MANE":"NM_138715.3","APPRIS":"P2","EXON":"4/10","DOMAINS":"PANTHER:PTHR19331:SF440;PANTHER:PTHR19331;Coiled-coils_(Ncoils):Coil","SOMATIC":"1;1","IMPACT":"HIGH","VARIANT_CLASS":"deletion","TSL":1,"PHENO":"1;1","GENE_PHENO":"1","CONTEXT":"ATTTTGCCATTC","tumor_bam_uuid":"720238be-5a1b-4490-9397-5695c4b21550","normal_bam_uuid":"f97360f9-2595-4a1c-a6e2-035042047830","case_id":"0a1eea76-e19a-4547-9b24-abf7051cc4db","hotspot":"N","RNA_Support":"Unknown","callers":"mutect2;pindel;varscan2"}
{"X1":"206","Hugo_Symbol":"CEMIP2","Entrez_Gene_Id":23670,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr9","Start_Position":71745030,"End_Position":71745030,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"G","Tumor_Sample_Barcode":"TCGA-50-6592-01A-11D-1753-08","Matched_Norm_Sample_Barcode":"TCGA-50-6592-11A-01D-1753-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"d0303d05-a937-4a7d-9934-ffa93cc1c5de","Matched_Norm_Sample_UUID":"a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f","HGVSc":"c.1022G>C","HGVSp":"p.Gly341Ala","HGVSp_Short":"p.G341A","Transcript_ID":"ENST00000377044","Exon_Number":"4/24","t_depth":110,"t_ref_count":82,"t_alt_count":27,"n_depth":119,"all_effects":"CEMIP2,missense_variant,p.G341A,ENST00000377044,NM_013390.3,c.1022G>C,MODERATE,YES,tolerated(0.49),benign(0.035),-1;CEMIP2,missense_variant,p.G341A,ENST00000377066,NM_001135820.2&NM_001349784.2,c.1022G>C,MODERATE,,tolerated(0.22),benign(0.077),-1;CEMIP2,missense_variant,p.G341A,ENST00000542935,,c.1022G>C,MODERATE,,tolerated(0.36),benign(0.035),-1;CEMIP2,downstream_gene_variant,,ENST00000543165,,,MODIFIER,,,,-1","Allele":"G","Gene":"ENSG00000135048","Feature":"ENST00000377044","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"1191/6152","CDS_position":"1022/4152","Protein_position":"341/1383","Amino_acids":"G/A","Codons":"gGa/gCa","Existing_variation":"COSV65489537","TRANSCRIPT_STRAND":-1,"SYMBOL":"CEMIP2","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:11869","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS6638.1","ENSP":"ENSP00000366243","SWISSPROT":"Q9UHN6.137","TREMBL":"A0A024R229.38","UNIPARC":"UPI0000071E8D","UNIPROT_ISOFORM":"Q9UHN6-1","RefSeq":"NM_013390.3","MANE":"NM_013390.3","APPRIS":"P1","SIFT":"tolerated(0.49)","PolyPhen":"benign(0.035)","EXON":"4/24","DOMAINS":"Pfam:PF15711;PANTHER:PTHR15535;PANTHER:PTHR15535:SF26;CDD:cd13938","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","CONTEXT":"CCAGTCCTTGG","tumor_bam_uuid":"cacb8b1e-079f-47cd-8dc9-0be90e7b4451","normal_bam_uuid":"229e5d8d-6cd4-474b-9f86-9e1cdf81494b","case_id":"09918b81-4696-4cba-a45a-5fe7407c2337","COSMIC":"COSM6115661","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"77","Hugo_Symbol":"TLR4","Entrez_Gene_Id":7099,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr9","Start_Position":117713923,"End_Position":117713923,"Strand":"+","Variant_Classification":"Nonsense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"T","Tumor_Sample_Barcode":"TCGA-MP-A4TA-01A-21D-A24P-08","Matched_Norm_Sample_Barcode":"TCGA-MP-A4TA-10A-01D-A24P-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"453b2461-e5a5-425d-9bdf-be89453081a7","Matched_Norm_Sample_UUID":"f53cff28-bc8a-4fdd-86d6-c1510d052eed","HGVSc":"c.1795C>T","HGVSp":"p.Gln599Ter","HGVSp_Short":"p.Q599*","Transcript_ID":"ENST00000355622","Exon_Number":"3/3","t_depth":58,"t_ref_count":45,"t_alt_count":13,"n_depth":52,"all_effects":"TLR4,stop_gained,p.Q599*,ENST00000355622,NM_138554.5&NM_138557.3,c.1795C>T,HIGH,YES,,,1;TLR4,stop_gained,p.Q559*,ENST00000394487,NM_003266.4,c.1675C>T,HIGH,,,,1;TLR4,3_prime_UTR_variant,,ENST00000472304,,c.*1529C>T,MODIFIER,,,,1;AL160272.2,intron_variant,,ENST00000646089,,c.93+9358C>T,MODIFIER,YES,,,1;TLR4,downstream_gene_variant,,ENST00000490685,,,MODIFIER,,,,1;AL160272.2,intron_variant,,ENST00000642985,,c.260+5194C>T,MODIFIER,,,,1;AL160272.2,intron_variant,,ENST00000665764,,c.93+9358C>T,MODIFIER,,,,1","Allele":"T","Gene":"ENSG00000136869","Feature":"ENST00000355622","Feature_type":"Transcript","One_Consequence":"stop_gained","Consequence":"stop_gained","cDNA_position":"1865/12677","CDS_position":"1795/2520","Protein_position":"599/839","Amino_acids":"Q/*","Codons":"Cag/Tag","Existing_variation":"COSV100842704","TRANSCRIPT_STRAND":1,"SYMBOL":"TLR4","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:11850","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS6818.1","ENSP":"ENSP00000363089","SWISSPROT":"O00206.210","UNIPARC":"UPI0000137057","UNIPROT_ISOFORM":"O00206-1","RefSeq":"NM_138554.5;NM_138557.3","MANE":"NM_138554.5","APPRIS":"P1","EXON":"3/3","DOMAINS":"PDB-ENSP_mappings:2z66.A;PDB-ENSP_mappings:2z66.B;PDB-ENSP_mappings:2z66.C;PDB-ENSP_mappings:2z66.D;Gene3D:3.80.10.10;PDB-ENSP_mappings:3fxi.A;PDB-ENSP_mappings:3fxi.B;PDB-ENSP_mappings:4g8a.A;PDB-ENSP_mappings:4g8a.B;PIRSF:PIRSF037595;PANTHER:PTHR24365;PANTHER:PTHR24365:SF521;SMART:SM00082","SOMATIC":"1","IMPACT":"HIGH","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","GENE_PHENO":"1","CONTEXT":"AGAGGCAGCTC","tumor_bam_uuid":"f020659f-320d-49e3-a4c6-2955c52f08d7","normal_bam_uuid":"2817a076-d485-4e5f-b5a9-0a174816b898","case_id":"98ee294a-46ed-4572-bdd4-a932c3498a25","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"27","Hugo_Symbol":"FAM47C","Entrez_Gene_Id":442444,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chrX","Start_Position":37008585,"End_Position":37008585,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"T","Tumor_Sample_Barcode":"TCGA-44-7667-01A-31D-2063-08","Matched_Norm_Sample_Barcode":"TCGA-44-7667-10A-01D-2063-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"2d2ebef2-26f9-4b4f-95b6-82d056051c52","Matched_Norm_Sample_UUID":"87619ebc-a51c-4b54-b911-d472f108df9e","HGVSc":"c.175C>T","HGVSp":"p.Arg59Cys","HGVSp_Short":"p.R59C","Transcript_ID":"ENST00000358047","Exon_Number":"1/1","t_depth":55,"t_ref_count":44,"t_alt_count":11,"n_depth":77,"all_effects":"FAM47C,missense_variant,p.R59C,ENST00000358047,NM_001013736.3,c.175C>T,MODERATE,YES,deleterious(0.01),probably_damaging(0.962),1","Allele":"T","Gene":"ENSG00000198173","Feature":"ENST00000358047","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"220/3299","CDS_position":"175/3108","Protein_position":"59/1035","Amino_acids":"R/C","Codons":"Cgc/Tgc","Existing_variation":"COSV100792944;COSV63727203","TRANSCRIPT_STRAND":1,"SYMBOL":"FAM47C","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:25301","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS35227.1","ENSP":"ENSP00000367913","SWISSPROT":"Q5HY64.97","UNIPARC":"UPI000041ABF8","RefSeq":"NM_001013736.3","MANE":"NM_001013736.3","APPRIS":"P1","SIFT":"deleterious(0.01)","PolyPhen":"probably_damaging(0.962)","EXON":"1/1","DOMAINS":"Pfam:PF14642;PANTHER:PTHR47415;PANTHER:PTHR47415:SF2","SOMATIC":"1;1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","PHENO":"1;1","GENE_PHENO":"1","CONTEXT":"ACTTCCGCTAC","tumor_bam_uuid":"dfe670d2-616a-4a8a-a84d-315cad597a87","normal_bam_uuid":"126618b9-43e8-4fe0-84b1-15a975479256","case_id":"7f6455e8-fa3d-4452-acb2-8c9995073072","COSMIC":"COSM6186761;COSM6186762","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"475","Hugo_Symbol":"SKIDA1","Entrez_Gene_Id":387640,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr10","Start_Position":21515608,"End_Position":21515608,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-05-4427-01A-21D-1855-08","Matched_Norm_Sample_Barcode":"TCGA-05-4427-10A-01D-1855-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"736e0134-8b1a-4ff1-9106-ca09c9812ef6","Matched_Norm_Sample_UUID":"486af110-e61e-4e67-b5fa-f0eef31227cb","HGVSc":"c.2215G>T","HGVSp":"p.Ala739Ser","HGVSp_Short":"p.A739S","Transcript_ID":"ENST00000449193","Exon_Number":"4/4","t_depth":492,"t_ref_count":398,"t_alt_count":94,"n_depth":435,"all_effects":"SKIDA1,missense_variant,p.A739S,ENST00000449193,NM_207371.4,c.2215G>T,MODERATE,YES,deleterious(0.03),possibly_damaging(0.604),-1;SKIDA1,missense_variant,p.A660S,ENST00000444772,,c.1978G>T,MODERATE,,deleterious(0.03),possibly_damaging(0.778),-1;SKIDA1,downstream_gene_variant,,ENST00000487107,,,MODIFIER,,,,-1;SKIDA1,downstream_gene_variant,,ENST00000633225,,,MODIFIER,,,,-1","Allele":"A","Gene":"ENSG00000180592","Feature":"ENST00000449193","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"4468/6601","CDS_position":"2215/2727","Protein_position":"739/908","Amino_acids":"A/S","Codons":"Gca/Tca","Existing_variation":"COSV71610962","TRANSCRIPT_STRAND":-1,"SYMBOL":"SKIDA1","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:32697","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS44363.1","ENSP":"ENSP00000410041","SWISSPROT":"Q1XH10.101","UNIPARC":"UPI00015386B3","UNIPROT_ISOFORM":"Q1XH10-1","RefSeq":"NM_207371.4","MANE":"NM_207371.4","APPRIS":"P4","SIFT":"deleterious(0.03)","PolyPhen":"possibly_damaging(0.604)","EXON":"4/4","DOMAINS":"PANTHER:PTHR23187:SF2;PANTHER:PTHR23187;Pfam:PF15223","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":3,"PHENO":"1","CONTEXT":"GCATGCAAAAC","tumor_bam_uuid":"db10f9f9-4375-4197-a905-692f64066021","normal_bam_uuid":"b3aca9b1-aee3-4a6c-b1b5-3216a736f741","case_id":"78a24c56-576c-4245-bb42-6603b3d19897","COSMIC":"COSM6065519;COSM6065520","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"554","Hugo_Symbol":"FAT3","Entrez_Gene_Id":120114,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr11","Start_Position":92352590,"End_Position":92352590,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"T","Tumor_Sample_Barcode":"TCGA-44-2666-01A-41D-A27T-08","Matched_Norm_Sample_Barcode":"TCGA-44-2666-10A-01D-A271-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"29c8013e-ca1d-4f58-868e-ae89de69fbc6","Matched_Norm_Sample_UUID":"71155acf-3bbd-454d-b4dc-024e26246e91","HGVSc":"c.478C>T","HGVSp":"p.Pro160Ser","HGVSp_Short":"p.P160S","Transcript_ID":"ENST00000409404","Exon_Number":"1/25","t_depth":89,"t_ref_count":66,"t_alt_count":23,"n_depth":42,"all_effects":"FAT3,missense_variant,p.P160S,ENST00000409404,NM_001008781.3,c.478C>T,MODERATE,YES,deleterious(0.04),probably_damaging(0.999),1;FAT3,missense_variant,p.P10S,ENST00000525166,NM_001367949.2,c.28C>T,MODERATE,,deleterious(0.03),probably_damaging(0.998),1;FAT3,upstream_gene_variant,,ENST00000528921,,,MODIFIER,,,,1","Allele":"T","Gene":"ENSG00000165323","Feature":"ENST00000409404","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"495/19030","CDS_position":"478/13674","Protein_position":"160/4557","Amino_acids":"P/S","Codons":"Ccc/Tcc","Existing_variation":"COSV53130258","TRANSCRIPT_STRAND":1,"SYMBOL":"FAT3","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:23112","BIOTYPE":"protein_coding","CANONICAL":"YES","ENSP":"ENSP00000387040","SWISSPROT":"Q8TDW7.142","UNIPARC":"UPI000050B6C7","UNIPROT_ISOFORM":"Q8TDW7-3","RefSeq":"NM_001008781.3","APPRIS":"P1","SIFT":"deleterious(0.04)","PolyPhen":"probably_damaging(0.999)","EXON":"1/25","DOMAINS":"Gene3D:2.60.40.60;Superfamily:SSF49313;PROSITE_profiles:PS50268;PANTHER:PTHR24026;PANTHER:PTHR24026:SF49","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":5,"PHENO":"1","GENE_PHENO":"1","CONTEXT":"TTTCACCCACA","tumor_bam_uuid":"311ef6fb-d1d8-45e0-af98-84ded01ddf99","normal_bam_uuid":"81ead19b-eda8-41a7-afac-af60a0321e47","case_id":"e16ca88f-488b-40f0-9169-e5a62482a2ff","COSMIC":"COSM6070922;COSM6070923;COSM6070924","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"306","Hugo_Symbol":"ANKMY1","Entrez_Gene_Id":51281,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr2","Start_Position":240525835,"End_Position":240525835,"Strand":"+","Variant_Classification":"Silent","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"A","dbSNP_RS":"rs201176859","Tumor_Sample_Barcode":"TCGA-55-A4DF-01A-11D-A24D-08","Matched_Norm_Sample_Barcode":"TCGA-55-A4DF-10A-01D-A24F-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"9b0086c6-b9d2-4307-87c2-3ad6d462d9b5","Matched_Norm_Sample_UUID":"b6d8e54f-06ff-47fe-b6a7-371417e180a0","HGVSc":"c.918C>T","HGVSp":"p.Asn306=","HGVSp_Short":"p.N306=","Transcript_ID":"ENST00000272972","Exon_Number":"6/17","t_depth":137,"t_ref_count":103,"t_alt_count":34,"n_depth":89,"all_effects":"ANKMY1,missense_variant,p.T234M,ENST00000391987,,c.701C>T,MODERATE,,deleterious(0.05),possibly_damaging(0.788),-1;ANKMY1,missense_variant,p.T179M,ENST00000443318,,c.536C>T,MODERATE,,deleterious(0.02),possibly_damaging(0.895),-1;ANKMY1,synonymous_variant,p.N76=,ENST00000405002,NM_001354026.1,c.228C>T,LOW,,,,-1;ANKMY1,synonymous_variant,p.N395=,ENST00000401804,NM_001354023.2&NM_001282771.3,c.1185C>T,LOW,YES,,,-1;ANKMY1,synonymous_variant,p.N306=,ENST00000272972,NM_001354024.2&NM_016552.5,c.918C>T,LOW,,,,-1;ANKMY1,synonymous_variant,p.N244=,ENST00000403283,NM_001308375.2,c.732C>T,LOW,,,,-1;ANKMY1,synonymous_variant,p.N165=,ENST00000361678,NM_001354025.2&NM_017844.4,c.495C>T,LOW,,,,-1;ANKMY1,synonymous_variant,p.N165=,ENST00000373318,NM_001282780.2,c.495C>T,LOW,,,,-1;ANKMY1,synonymous_variant,p.N165=,ENST00000406958,NM_001282781.2,c.495C>T,LOW,,,,-1;ANKMY1,synonymous_variant,p.N165=,ENST00000405523,,c.495C>T,LOW,,,,-1;ANKMY1,synonymous_variant,p.N118=,ENST00000441168,,c.354C>T,LOW,,,,-1;ANKMY1,downstream_gene_variant,,ENST00000418708,,,MODIFIER,,,,-1;ANKMY1,downstream_gene_variant,,ENST00000462004,,,MODIFIER,,,,-1;ANKMY1,non_coding_transcript_exon_variant,,ENST00000480230,,n.2047C>T,MODIFIER,,,,-1;ANKMY1,non_coding_transcript_exon_variant,,ENST00000459901,,n.2662C>T,MODIFIER,,,,-1;ANKMY1,non_coding_transcript_exon_variant,,ENST00000484526,,n.376C>T,MODIFIER,,,,-1;ANKMY1,non_coding_transcript_exon_variant,,ENST00000496300,,n.860C>T,MODIFIER,,,,-1","Allele":"A","Gene":"ENSG00000144504","Feature":"ENST00000272972","Feature_type":"Transcript","One_Consequence":"synonymous_variant","Consequence":"synonymous_variant","cDNA_position":"1133/3228","CDS_position":"918/2826","Protein_position":"306/941","Amino_acids":"N","Codons":"aaC/aaT","Existing_variation":"rs201176859;COSV99803217","TRANSCRIPT_STRAND":-1,"SYMBOL":"ANKMY1","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:20987","BIOTYPE":"protein_coding","CCDS":"CCDS2536.1","ENSP":"ENSP00000272972","SWISSPROT":"Q9P2S6.154","UNIPARC":"UPI000013D98C","UNIPROT_ISOFORM":"Q9P2S6-1","RefSeq":"NM_001354024.2;NM_016552.5","APPRIS":"A2","EXON":"6/17","DOMAINS":"Gene3D:1.25.40.20;Pfam:PF00023;PROSITE_profiles:PS50088;PROSITE_profiles:PS50297;PANTHER:PTHR15897;SMART:SM00248;Superfamily:SSF48403","gnomAD_AF":"1.592e-05","gnomAD_AFR_AF":"0","gnomAD_AMR_AF":"2.893e-05","gnomAD_ASJ_AF":"0","gnomAD_EAS_AF":"0","gnomAD_FIN_AF":"0","gnomAD_NFE_AF":"2.641e-05","gnomAD_OTH_AF":"0","gnomAD_SAS_AF":"0","MAX_AF":"2.893e-05","MAX_AF_POPS":"gnomAD_AMR","gnomAD_non_cancer_AF":"3.38024983648211e-05","gnomAD_non_cancer_AFR_AF":"4.86405006085988e-05","gnomAD_non_cancer_AMI_AF":"0","gnomAD_non_cancer_AMR_AF":"0","gnomAD_non_cancer_ASJ_AF":"0","gnomAD_non_cancer_EAS_AF":"0","gnomAD_non_cancer_FIN_AF":"0","gnomAD_non_cancer_MID_AF":"0","gnomAD_non_cancer_NFE_AF":"4.6291999751702e-05","gnomAD_non_cancer_OTH_AF":"0","gnomAD_non_cancer_SAS_AF":"0","gnomAD_non_cancer_MAX_AF_adj":"4.86405006085988e-05","gnomAD_non_cancer_MAX_AF_POPS_adj":"afr","SOMATIC":"0;1","IMPACT":"LOW","VARIANT_CLASS":"SNV","TSL":1,"PHENO":"0;1","CONTEXT":"ATGTCGTTGTG","tumor_bam_uuid":"228352b7-77ec-4b68-9731-0919b6b9e144","normal_bam_uuid":"47eacc7f-3755-4c32-a65e-bd6c1dc174fe","case_id":"362000e4-cf7c-48fc-93cc-8f5994b442ea","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"307","Hugo_Symbol":"KMT2D","Entrez_Gene_Id":8085,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr12","Start_Position":49042593,"End_Position":49042593,"Strand":"+","Variant_Classification":"Silent","Variant_Type":"SNP","Reference_Allele":"T","Tumor_Seq_Allele1":"T","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-55-8096-01A-11D-2238-08","Matched_Norm_Sample_Barcode":"TCGA-55-8096-10A-01D-2238-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"babd96af-bc23-49ee-b8ef-541bc076c7c4","Matched_Norm_Sample_UUID":"fbc4dd00-fd9b-4988-aa44-ce1598a2150b","HGVSc":"c.5835A>T","HGVSp":"p.Pro1945=","HGVSp_Short":"p.P1945=","Transcript_ID":"ENST00000301067","Exon_Number":"28/55","t_depth":29,"t_ref_count":24,"t_alt_count":5,"n_depth":39,"all_effects":"KMT2D,synonymous_variant,p.P1945=,ENST00000301067,NM_003482.4,c.5835A>T,LOW,YES,,,-1;KMT2D,downstream_gene_variant,,ENST00000650290,,,MODIFIER,,,,-1;KMT2D,upstream_gene_variant,,ENST00000549799,,,MODIFIER,,,,-1;KMT2D,downstream_gene_variant,,ENST00000550356,,,MODIFIER,,,,-1","Allele":"A","Gene":"ENSG00000167548","Feature":"ENST00000301067","Feature_type":"Transcript","One_Consequence":"synonymous_variant","Consequence":"synonymous_variant","cDNA_position":"7054/20635","CDS_position":"5835/16614","Protein_position":"1945/5537","Amino_acids":"P","Codons":"ccA/ccT","Existing_variation":"COSV99985896","TRANSCRIPT_STRAND":-1,"SYMBOL":"KMT2D","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:7133","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS44873.1","ENSP":"ENSP00000301067","SWISSPROT":"O14686.191","UNIPARC":"UPI0000EE84D6","UNIPROT_ISOFORM":"O14686-1","RefSeq":"NM_003482.4","MANE":"NM_003482.4","APPRIS":"P1","EXON":"28/55","DOMAINS":"PANTHER:PTHR45888;PANTHER:PTHR45888:SF2","SOMATIC":"1","IMPACT":"LOW","PICK":1,"VARIANT_CLASS":"SNV","TSL":5,"PHENO":"1","GENE_PHENO":"1","CONTEXT":"AGGCCTGGGTA","tumor_bam_uuid":"791e1506-10e5-4105-b58a-a6aaac8d4b15","normal_bam_uuid":"b072cb8b-b797-43a9-932b-980b2d5e60c5","case_id":"36470b30-a3b3-4d28-851b-918a7ff88011","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"301","Hugo_Symbol":"OR10K2","Entrez_Gene_Id":391107,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr1","Start_Position":158420482,"End_Position":158420482,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"T","dbSNP_RS":"rs938785060","Tumor_Sample_Barcode":"TCGA-05-4244-01A-01D-1105-08","Matched_Norm_Sample_Barcode":"TCGA-05-4244-10A-01D-1105-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"738c514d-ff0f-4220-9326-236119891df5","Matched_Norm_Sample_UUID":"34f50d09-4bc8-4adb-a09b-67746ecb2bdc","HGVSc":"c.385C>A","HGVSp":"p.Pro129Thr","HGVSp_Short":"p.P129T","Transcript_ID":"ENST00000641042","Exon_Number":"2/2","t_depth":296,"t_ref_count":270,"t_alt_count":26,"n_depth":157,"all_effects":"OR10K2,missense_variant,p.P129T,ENST00000641042,NM_001004476.1,c.385C>A,MODERATE,YES,deleterious(0),probably_damaging(0.999),-1","Allele":"T","Gene":"ENSG00000180708","Feature":"ENST00000641042","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"751/3023","CDS_position":"385/939","Protein_position":"129/312","Amino_acids":"P/T","Codons":"Cca/Aca","Existing_variation":"rs938785060;COSV59222961","TRANSCRIPT_STRAND":-1,"SYMBOL":"OR10K2","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:14826","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS30896.1","ENSP":"ENSP00000493297","SWISSPROT":"Q6IF99.127","TREMBL":"A0A126GV65.22","UNIPARC":"UPI0000041BC2","RefSeq":"NM_001004476.1","APPRIS":"P1","SIFT":"deleterious(0)","PolyPhen":"probably_damaging(0.999)","EXON":"2/2","DOMAINS":"Gene3D:1.20.1070.10;Pfam:PF13853;Prints:PR00245;PROSITE_profiles:PS50262;PANTHER:PTHR26451;PANTHER:PTHR26451:SF940;Superfamily:SSF81321;CDD:cd15225","SOMATIC":"0;1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","PHENO":"0;1","CONTEXT":"CAGTGGGTTAC","tumor_bam_uuid":"8a9fc27d-c4fa-4f25-a800-c4a27a611578","normal_bam_uuid":"6b74237b-66b0-43b1-ae46-ab9720716912","case_id":"34040b83-7e8a-4264-a551-b16621843e28","COSMIC":"COSM6058958","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2"}
{"X1":"77","Hugo_Symbol":"OR2L13","Entrez_Gene_Id":284521,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr1","Start_Position":248099377,"End_Position":248099377,"Strand":"+","Variant_Classification":"Translation_Start_Site","Variant_Type":"SNP","Reference_Allele":"T","Tumor_Seq_Allele1":"T","Tumor_Seq_Allele2":"C","Tumor_Sample_Barcode":"TCGA-MP-A4TA-01A-21D-A24P-08","Matched_Norm_Sample_Barcode":"TCGA-MP-A4TA-10A-01D-A24P-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"453b2461-e5a5-425d-9bdf-be89453081a7","Matched_Norm_Sample_UUID":"f53cff28-bc8a-4fdd-86d6-c1510d052eed","HGVSc":"c.2T>C","HGVSp":"p.Met1?","HGVSp_Short":"p.M1?","Transcript_ID":"ENST00000358120","Exon_Number":"3/3","t_depth":105,"t_ref_count":96,"t_alt_count":9,"n_depth":122,"all_effects":"OR2L13,start_lost,p.M1?,ENST00000641714,,c.2T>C,HIGH,YES,deleterious(0),benign(0.118),1;OR2L13,start_lost,p.M1?,ENST00000358120,NM_175911.3,c.2T>C,HIGH,,deleterious(0),benign(0.118),1;OR2L13,start_lost,p.M1?,ENST00000641893,NM_001304535.1,c.2T>C,HIGH,,deleterious(0),benign(0.118),1","Allele":"C","Gene":"ENSG00000196071","Feature":"ENST00000358120","Feature_type":"Transcript","One_Consequence":"start_lost","Consequence":"start_lost","cDNA_position":"216/1942","CDS_position":"2/939","Protein_position":"1/312","Amino_acids":"M/T","Codons":"aTg/aCg","Existing_variation":"COSV100813700","TRANSCRIPT_STRAND":1,"SYMBOL":"OR2L13","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:19578","BIOTYPE":"protein_coding","CCDS":"CCDS1637.1","ENSP":"ENSP00000350836","SWISSPROT":"Q8N349.149","TREMBL":"A0A126GW96.33","UNIPARC":"UPI0000043517","RefSeq":"NM_175911.3","APPRIS":"P1","SIFT":"deleterious(0)","PolyPhen":"benign(0.118)","EXON":"3/3","DOMAINS":"PANTHER:PTHR26453;PANTHER:PTHR26453:SF102;Superfamily:SSF81321","SOMATIC":"1","IMPACT":"HIGH","VARIANT_CLASS":"SNV","PHENO":"1","CONTEXT":"TTTCATGGAGA","tumor_bam_uuid":"f020659f-320d-49e3-a4c6-2955c52f08d7","normal_bam_uuid":"2817a076-d485-4e5f-b5a9-0a174816b898","case_id":"98ee294a-46ed-4572-bdd4-a932c3498a25","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2"}
{"X1":"459","Hugo_Symbol":"KEL","Entrez_Gene_Id":3792,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr7","Start_Position":142942897,"End_Position":142942897,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"A","dbSNP_RS":"rs747360606","Tumor_Sample_Barcode":"TCGA-44-3917-01A-01D-A271-08","Matched_Norm_Sample_Barcode":"TCGA-44-3917-10A-01D-A271-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"04300f61-584e-4243-9809-40eaadd19e2b","Matched_Norm_Sample_UUID":"8699fa01-3d8d-468a-a13c-42a6bb172e51","HGVSc":"c.1919G>T","HGVSp":"p.Gly640Val","HGVSp_Short":"p.G640V","Transcript_ID":"ENST00000355265","Exon_Number":"17/19","t_depth":100,"t_ref_count":55,"t_alt_count":45,"n_depth":138,"all_effects":"KEL,missense_variant,p.G640V,ENST00000355265,NM_000420.3,c.1919G>T,MODERATE,YES,deleterious(0),probably_damaging(0.984),-1;LLCFC1,downstream_gene_variant,,ENST00000409607,NM_178829.5&NM_001382496.1,,MODIFIER,,,,1;LLCFC1,downstream_gene_variant,,ENST00000458732,,,MODIFIER,YES,,,1;KEL,downstream_gene_variant,,ENST00000479768,,,MODIFIER,,,,-1;KEL,non_coding_transcript_exon_variant,,ENST00000470850,,n.219G>T,MODIFIER,,,,-1;KEL,non_coding_transcript_exon_variant,,ENST00000478969,,n.258G>T,MODIFIER,,,,-1;KEL,downstream_gene_variant,,ENST00000465697,,,MODIFIER,,,,-1","Allele":"A","Gene":"ENSG00000197993","Feature":"ENST00000355265","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"2076/2494","CDS_position":"1919/2199","Protein_position":"640/732","Amino_acids":"G/V","Codons":"gGg/gTg","Existing_variation":"rs747360606;COSV100786873","TRANSCRIPT_STRAND":-1,"SYMBOL":"KEL","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:6308","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS34766.1","ENSP":"ENSP00000347409","SWISSPROT":"P23276.198","TREMBL":"A0A077QP03.41","UNIPARC":"UPI000000D923","RefSeq":"NM_000420.3","MANE":"NM_000420.3","APPRIS":"P1","SIFT":"deleterious(0)","PolyPhen":"probably_damaging(0.984)","EXON":"17/19","DOMAINS":"PROSITE_profiles:PS51885;CDD:cd08662;PANTHER:PTHR11733:SF128;PANTHER:PTHR11733;Pfam:PF01431;Gene3D:3.40.390.10;Superfamily:SSF55486;Prints:PR00786","SOMATIC":"0;1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"0;1","GENE_PHENO":"1","CONTEXT":"GCCCCCCAACG","tumor_bam_uuid":"70fb666a-c6e3-47f6-b44e-b5a9800e638f","normal_bam_uuid":"67743839-93a9-44bb-a1b0-3f4895161945","case_id":"7099597a-b208-45b5-b9e0-11ab40d5e497","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"434","Hugo_Symbol":"MYO7B","Entrez_Gene_Id":4648,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr2","Start_Position":127609629,"End_Position":127609630,"Strand":"+","Variant_Classification":"Nonsense_Mutation","Variant_Type":"INS","Reference_Allele":"-","Tumor_Seq_Allele1":"-","Tumor_Seq_Allele2":"A","dbSNP_RS":"novel","Tumor_Sample_Barcode":"TCGA-75-7025-01A-12D-1945-08","Matched_Norm_Sample_Barcode":"TCGA-75-7025-10A-01D-1946-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"17e3b2f9-1645-4315-9897-31eb2893345c","Matched_Norm_Sample_UUID":"dcddb05c-169b-4149-ba9b-840f18bc135d","HGVSc":"c.2939dup","HGVSp":"p.Tyr980Ter","HGVSp_Short":"p.Y980*","Transcript_ID":"ENST00000409816","Exon_Number":"22/46","t_depth":102,"t_ref_count":79,"t_alt_count":23,"n_depth":114,"all_effects":"MYO7B,stop_gained,p.Y980*,ENST00000428314,NM_001080527.1,c.2939dup,HIGH,YES,,,1;MYO7B,stop_gained,p.Y980*,ENST00000409816,,c.2939dup,HIGH,,,,1;MYO7B,upstream_gene_variant,,ENST00000563538,,,MODIFIER,,,,1","Allele":"A","Gene":"ENSG00000169994","Feature":"ENST00000409816","Feature_type":"Transcript","One_Consequence":"stop_gained","Consequence":"stop_gained;frameshift_variant","cDNA_position":"2970-2971/6694","CDS_position":"2938-2939/6351","Protein_position":"980/2116","Amino_acids":"Y/*","Codons":"tac/tAac","TRANSCRIPT_STRAND":1,"SYMBOL":"MYO7B","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:7607","BIOTYPE":"protein_coding","CCDS":"CCDS46405.1","ENSP":"ENSP00000386461","SWISSPROT":"Q6PIF6.145","UNIPARC":"UPI00006C04F0","UNIPROT_ISOFORM":"Q6PIF6-1","APPRIS":"P1","EXON":"22/46","DOMAINS":"PANTHER:PTHR13140;PANTHER:PTHR13140:SF505;Gene3D:1.25.40.530","IMPACT":"HIGH","VARIANT_CLASS":"insertion","TSL":1,"HGVS_OFFSET":1,"CONTEXT":"TGACTTACTTC","tumor_bam_uuid":"e4de737c-f45c-4e90-8962-785bfb177fc2","normal_bam_uuid":"a222d4e5-5c4b-4fad-aa9b-484169ebe0c9","case_id":"681b1176-9676-44d3-892c-1d5dba1ce25b","hotspot":"N","RNA_Support":"Unknown","callers":"mutect2;pindel;varscan2"}
{"X1":"238","Hugo_Symbol":"KRT9","Entrez_Gene_Id":3857,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr17","Start_Position":41567652,"End_Position":41567652,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-78-8640-01A-11D-2393-08","Matched_Norm_Sample_Barcode":"TCGA-78-8640-11A-01D-2393-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"c50986c8-b096-4ca6-9afe-ad02977329cb","Matched_Norm_Sample_UUID":"dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11","HGVSc":"c.1493G>T","HGVSp":"p.Gly498Val","HGVSp_Short":"p.G498V","Transcript_ID":"ENST00000246662","Exon_Number":"7/8","t_depth":25,"t_ref_count":19,"t_alt_count":6,"n_depth":24,"all_effects":"KRT9,missense_variant,p.G498V,ENST00000246662,NM_000226.4,c.1493G>T,MODERATE,YES,tolerated_low_confidence(0.49),probably_damaging(0.988),-1;KRT9,missense_variant,p.G265V,ENST00000588431,,c.794G>T,MODERATE,,tolerated(0.51),probably_damaging(0.988),-1","Allele":"A","Gene":"ENSG00000171403","Feature":"ENST00000246662","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"1560/2296","CDS_position":"1493/1872","Protein_position":"498/623","Amino_acids":"G/V","Codons":"gGt/gTt","Existing_variation":"COSV55851658;COSV99879082","TRANSCRIPT_STRAND":-1,"SYMBOL":"KRT9","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:6447","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS32654.1","ENSP":"ENSP00000246662","SWISSPROT":"P35527.200","UNIPARC":"UPI00001AE6F7","RefSeq":"NM_000226.4","MANE":"NM_000226.4","APPRIS":"P1","SIFT":"tolerated_low_confidence(0.49)","PolyPhen":"probably_damaging(0.988)","EXON":"7/8","DOMAINS":"PANTHER:PTHR23239;PANTHER:PTHR23239:SF96;Low_complexity_(Seg):seg","SOMATIC":"1;1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1;1","GENE_PHENO":"1","CONTEXT":"CTCCACCATAG","tumor_bam_uuid":"a4437afd-b85a-4e7c-8a73-e91011ebf31c","normal_bam_uuid":"f0290fd0-31e2-49b3-8cec-7eb7b425f0c7","case_id":"18478121-f1d1-4bdd-9511-8ab22f4a0660","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2"}
{"X1":"423","Hugo_Symbol":"ABCB7","Entrez_Gene_Id":22,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chrX","Start_Position":75060303,"End_Position":75060303,"Strand":"+","Variant_Classification":"Frame_Shift_Del","Variant_Type":"DEL","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"-","dbSNP_RS":"novel","Tumor_Sample_Barcode":"TCGA-17-Z010-01A-01W-0746-08","Matched_Norm_Sample_Barcode":"TCGA-17-Z010-11A-01W-0746-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"c9fb7916-74d0-4266-b5b8-705018e0e76b","Matched_Norm_Sample_UUID":"bb7b1914-a5e5-4b72-adee-c6551142f0be","HGVSc":"c.1963del","HGVSp":"p.Val655SerfsTer30","HGVSp_Short":"p.V655Sfs*30","Transcript_ID":"ENST00000373394","Exon_Number":"15/16","t_depth":48,"t_ref_count":43,"t_alt_count":5,"n_depth":51,"all_effects":"ABCB7,frameshift_variant,p.V656Sfs*30,ENST00000253577,NM_004299.6,c.1966del,HIGH,,,,-1;ABCB7,frameshift_variant,p.V655Sfs*30,ENST00000373394,NM_001271696.3,c.1963del,HIGH,,,,-1;ABCB7,frameshift_variant,p.V596Sfs*30,ENST00000669573,,c.1786del,HIGH,,,,-1;ABCB7,frameshift_variant,p.V660Sfs*30,ENST00000645829,,c.1978del,HIGH,YES,,,-1;ABCB7,frameshift_variant,p.V615Sfs*30,ENST00000339447,NM_001271697.3,c.1843del,HIGH,,,,-1;ABCB7,frameshift_variant,p.V616Sfs*30,ENST00000620875,NM_001271699.3,c.1846del,HIGH,,,,-1;ABCB7,frameshift_variant,p.V629Sfs*30,ENST00000529949,NM_001271698.3,c.1885del,HIGH,,,,-1;ABCB7,intron_variant,,ENST00000644766,,c.1939-35del,MODIFIER,,,,-1;ABCB7,non_coding_transcript_exon_variant,,ENST00000666534,,n.1853del,MODIFIER,,,,-1;ABCB7,non_coding_transcript_exon_variant,,ENST00000663420,,n.1883del,MODIFIER,,,,-1;ABCB7,downstream_gene_variant,,ENST00000669388,,,MODIFIER,,,,-1;ABCB7,non_coding_transcript_exon_variant,,ENST00000490858,,n.328del,MODIFIER,,,,-1;ABCB7,downstream_gene_variant,,ENST00000534570,,,MODIFIER,,,,-1","Allele":"-","Gene":"ENSG00000131269","Feature":"ENST00000373394","Feature_type":"Transcript","One_Consequence":"frameshift_variant","Consequence":"frameshift_variant","cDNA_position":"1974/4592","CDS_position":"1963/2259","Protein_position":"655/752","Amino_acids":"V/X","Codons":"Gtc/tc","TRANSCRIPT_STRAND":-1,"SYMBOL":"ABCB7","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:48","BIOTYPE":"protein_coding","CCDS":"CCDS65291.1","ENSP":"ENSP00000362492","SWISSPROT":"O75027.189","UNIPARC":"UPI0000125116","UNIPROT_ISOFORM":"O75027-1","RefSeq":"NM_001271696.3","MANE":"NM_001271696.3","APPRIS":"A1","EXON":"15/16","DOMAINS":"PROSITE_profiles:PS50893;CDD:cd03253;PANTHER:PTHR24221;PANTHER:PTHR24221:SF187;Gene3D:3.40.50.300;SMART:SM00382;Superfamily:SSF52540","IMPACT":"HIGH","VARIANT_CLASS":"deletion","TSL":1,"GENE_PHENO":"1","CONTEXT":"GTTTGACCACAT","tumor_bam_uuid":"8c8ebd36-f831-4100-b1d3-70029cb71456","normal_bam_uuid":"7984bb5a-9495-436c-8964-e1fbc4bfe499","case_id":"654affac-f8ed-40bb-9f9f-a293227b06a6","hotspot":"N","RNA_Support":"Unknown","callers":"mutect2;pindel;varscan2"}
{"X1":"353","Hugo_Symbol":"CSAD","Entrez_Gene_Id":51380,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr12","Start_Position":53170097,"End_Position":53170097,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"T","Tumor_Sample_Barcode":"TCGA-35-4122-01A-01D-1105-08","Matched_Norm_Sample_Barcode":"TCGA-35-4122-10A-01D-1105-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"408e1cb4-64a8-4801-bf58-3b8183ede851","Matched_Norm_Sample_UUID":"a969f6fd-3d2e-447c-bf05-57c2466b3357","HGVSc":"c.677G>A","HGVSp":"p.Arg226Lys","HGVSp_Short":"p.R226K","Transcript_ID":"ENST00000444623","Exon_Number":"10/17","t_depth":82,"t_ref_count":72,"t_alt_count":9,"n_depth":58,"all_effects":"CSAD,missense_variant,p.R253K,ENST00000267085,NM_015989.5,c.758G>A,MODERATE,YES,tolerated(0.89),benign(0),-1;CSAD,missense_variant,p.R226K,ENST00000444623,NM_001244705.2,c.677G>A,MODERATE,,tolerated(1),benign(0),-1;CSAD,missense_variant,p.R252K,ENST00000379850,,c.755G>A,MODERATE,,tolerated(0.99),benign(0.003),-1;CSAD,missense_variant,p.G244S,ENST00000379843,,c.730G>A,MODERATE,,tolerated_low_confidence(0.57),unknown(0),-1;CSAD,missense_variant,p.R79K,ENST00000379846,NM_001244706.1,c.236G>A,MODERATE,,tolerated(0.82),benign(0),-1;CSAD,missense_variant,p.R226K,ENST00000453446,,c.677G>A,MODERATE,,tolerated(1),benign(0),-1;CSAD,missense_variant,p.R79K,ENST00000548698,,c.236G>A,MODERATE,,tolerated(0.7),benign(0.01),-1;CSAD,downstream_gene_variant,,ENST00000424990,,,MODIFIER,,,,-1;CSAD,downstream_gene_variant,,ENST00000437073,,,MODIFIER,,,,-1;CSAD,downstream_gene_variant,,ENST00000498635,,,MODIFIER,,,,-1;CSAD,non_coding_transcript_exon_variant,,ENST00000454442,,n.508G>A,MODIFIER,,,,-1;CSAD,downstream_gene_variant,,ENST00000491654,,,MODIFIER,,,,-1;CSAD,missense_variant,p.G244S,ENST00000475890,,c.730G>A,MODERATE,,tolerated_low_confidence(0.57),unknown(0),-1;CSAD,3_prime_UTR_variant,,ENST00000424845,,c.*325G>A,MODIFIER,,,,-1;CSAD,3_prime_UTR_variant,,ENST00000483632,,c.*36G>A,MODIFIER,,,,-1;CSAD,non_coding_transcript_exon_variant,,ENST00000490923,,n.320G>A,MODIFIER,,,,-1;CSAD,non_coding_transcript_exon_variant,,ENST00000485004,,n.498G>A,MODIFIER,,,,-1;CSAD,non_coding_transcript_exon_variant,,ENST00000490589,,n.280G>A,MODIFIER,,,,-1;CSAD,non_coding_transcript_exon_variant,,ENST00000472908,,n.261G>A,MODIFIER,,,,-1;CSAD,downstream_gene_variant,,ENST00000461392,,,MODIFIER,,,,-1","Allele":"T","Gene":"ENSG00000139631","Feature":"ENST00000444623","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"961/2614","CDS_position":"677/1482","Protein_position":"226/493","Amino_acids":"R/K","Codons":"aGg/aAg","Existing_variation":"COSV99915088","TRANSCRIPT_STRAND":-1,"SYMBOL":"CSAD","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:18966","BIOTYPE":"protein_coding","CCDS":"CCDS58235.1","ENSP":"ENSP00000415485","SWISSPROT":"Q9Y600.165","TREMBL":"A0A024RAX7.48","UNIPARC":"UPI000013D727","UNIPROT_ISOFORM":"Q9Y600-1","RefSeq":"NM_001244705.2","MANE":"NM_001244705.2","APPRIS":"P1","SIFT":"tolerated(1)","PolyPhen":"benign(0)","EXON":"10/17","DOMAINS":"PDB-ENSP_mappings:2jis.A;PDB-ENSP_mappings:2jis.B;CDD:cd06450;PANTHER:PTHR45677;PANTHER:PTHR45677:SF7;Pfam:PF00282;Gene3D:3.40.640.10;Gene3D:3.90.1150.170;Superfamily:SSF53383","SOMATIC":"1","IMPACT":"MODERATE","VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","CONTEXT":"TCTGCCTCTCC","tumor_bam_uuid":"1d1f87ac-6183-42b4-ae1c-0473d11c85c4","normal_bam_uuid":"0b21e21f-0de1-4c8c-9ca2-fa44a82262c5","case_id":"44adf4cb-2829-4153-80fd-a8b7ee0e654a","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2"}
{"X1":"202","Hugo_Symbol":"RASA2","Entrez_Gene_Id":5922,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr3","Start_Position":141553873,"End_Position":141553873,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"T","Tumor_Sample_Barcode":"TCGA-78-7155-01A-11D-2036-08","Matched_Norm_Sample_Barcode":"TCGA-78-7155-10A-01D-2036-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"cf7882fa-4343-4c32-8940-2fc85cfb4c6e","Matched_Norm_Sample_UUID":"14233f2d-dd7b-4330-a079-0f7158397e28","HGVSc":"c.544G>T","HGVSp":"p.Gly182Trp","HGVSp_Short":"p.G182W","Transcript_ID":"ENST00000286364","Exon_Number":"6/24","t_depth":123,"t_ref_count":90,"t_alt_count":33,"n_depth":85,"all_effects":"RASA2,missense_variant,p.G182W,ENST00000286364,NM_001303245.2&NM_001303246.2&NM_006506.5,c.544G>T,MODERATE,,deleterious(0),probably_damaging(0.998),1;RASA2,missense_variant,p.G182W,ENST00000452898,,c.544G>T,MODERATE,YES,deleterious(0),probably_damaging(0.979),1","Allele":"T","Gene":"ENSG00000155903","Feature":"ENST00000286364","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"601/5638","CDS_position":"544/2550","Protein_position":"182/849","Amino_acids":"G/W","Codons":"Ggg/Tgg","Existing_variation":"COSV53940353","TRANSCRIPT_STRAND":1,"SYMBOL":"RASA2","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:9872","BIOTYPE":"protein_coding","CCDS":"CCDS3117.1","ENSP":"ENSP00000286364","SWISSPROT":"Q15283.173","UNIPARC":"UPI00001351F5","UNIPROT_ISOFORM":"Q15283-2","RefSeq":"NM_001303245.2;NM_001303246.2;NM_006506.5","MANE":"NM_006506.5","APPRIS":"P4","SIFT":"deleterious(0)","PolyPhen":"probably_damaging(0.998)","EXON":"6/24","DOMAINS":"CDD:cd04010;Gene3D:2.60.40.150;Pfam:PF00168;SMART:SM00239;Superfamily:SSF49562;PROSITE_profiles:PS50004;PANTHER:PTHR10194;PANTHER:PTHR10194:SF21","SOMATIC":"1","IMPACT":"MODERATE","VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","GENE_PHENO":"1","CONTEXT":"GCCATGGGTTG","tumor_bam_uuid":"9b30db3c-976e-4bc8-9de8-6f786f1510ee","normal_bam_uuid":"56d63102-ab57-41ae-9908-d2c93e407d4d","case_id":"fc79086c-af9a-4c27-b074-f7050b6f3381","COSMIC":"COSM6163472;COSM6163473","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"347","Hugo_Symbol":"CIB4","Entrez_Gene_Id":130106,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr2","Start_Position":26595307,"End_Position":26595307,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"A","Tumor_Seq_Allele1":"A","Tumor_Seq_Allele2":"T","Tumor_Sample_Barcode":"TCGA-44-2656-01A-02D-A271-08","Matched_Norm_Sample_Barcode":"TCGA-44-2656-10A-01D-0969-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"989eccfd-d0e0-45ca-af4c-7324d450e956","Matched_Norm_Sample_UUID":"03b8420d-480f-48e1-88a7-8ee9917049a6","HGVSc":"c.197T>A","HGVSp":"p.Phe66Tyr","HGVSp_Short":"p.F66Y","Transcript_ID":"ENST00000288861","Exon_Number":"4/7","t_depth":37,"t_ref_count":32,"t_alt_count":5,"n_depth":109,"all_effects":"CIB4,missense_variant,p.F66Y,ENST00000288861,NM_001029881.3,c.197T>A,MODERATE,YES,deleterious(0),probably_damaging(0.999),-1;CIB4,non_coding_transcript_exon_variant,,ENST00000405346,,n.225T>A,MODIFIER,,,,-1;CIB4,non_coding_transcript_exon_variant,,ENST00000403670,,n.73T>A,MODIFIER,,,,-1","Allele":"T","Gene":"ENSG00000157884","Feature":"ENST00000288861","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"249/768","CDS_position":"197/558","Protein_position":"66/185","Amino_acids":"F/Y","Codons":"tTc/tAc","Existing_variation":"COSV56599510","TRANSCRIPT_STRAND":-1,"SYMBOL":"CIB4","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:33703","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS33160.1","ENSP":"ENSP00000288861","SWISSPROT":"A0PJX0.99","UNIPARC":"UPI0000160176","RefSeq":"NM_001029881.3","MANE":"NM_001029881.3","APPRIS":"P1","SIFT":"deleterious(0)","PolyPhen":"probably_damaging(0.999)","EXON":"4/7","DOMAINS":"PANTHER:PTHR45791:SF4;PANTHER:PTHR45791;Gene3D:1.10.238.10;Superfamily:SSF47473","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","CONTEXT":"CTCTGAAAGGG","tumor_bam_uuid":"c9d383fc-9657-4a4e-8939-af266b798094","normal_bam_uuid":"ada4ffdf-3ba5-4ad0-8eb4-634d04b2b9b8","case_id":"42ca54fc-c1ae-41cd-bca1-7fe9810db460","COSMIC":"COSM6091040","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"521","Hugo_Symbol":"GJA10","Entrez_Gene_Id":84694,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr6","Start_Position":89895715,"End_Position":89895715,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"C","Tumor_Sample_Barcode":"TCGA-55-8507-01A-11D-2393-08","Matched_Norm_Sample_Barcode":"TCGA-55-8507-10A-01D-2393-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"7f80e586-a01e-4500-8669-3ab11653306a","Matched_Norm_Sample_UUID":"685bf1a3-c398-458d-9906-7251883d89dd","HGVSc":"c.1247G>C","HGVSp":"p.Ser416Thr","HGVSp_Short":"p.S416T","Transcript_ID":"ENST00000369352","Exon_Number":"1/1","t_depth":91,"t_ref_count":80,"t_alt_count":11,"n_depth":112,"all_effects":"GJA10,missense_variant,p.S416T,ENST00000369352,NM_032602.2,c.1247G>C,MODERATE,YES,tolerated(0.06),benign(0.396),1;GJA10,missense_variant,p.S416T,ENST00000638915,,c.1247G>C,MODERATE,,tolerated(0.06),benign(0.121),1;Y_RNA,downstream_gene_variant,,ENST00000517082,,,MODIFIER,YES,,,-1","Allele":"C","Gene":"ENSG00000135355","Feature":"ENST00000369352","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"1247/1652","CDS_position":"1247/1632","Protein_position":"416/543","Amino_acids":"S/T","Codons":"aGt/aCt","Existing_variation":"COSV101005380","TRANSCRIPT_STRAND":1,"SYMBOL":"GJA10","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:16995","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS5025.1","ENSP":"ENSP00000358358","SWISSPROT":"Q969M2.142","TREMBL":"A0A654ICQ6.1","UNIPARC":"UPI0000049B8F","RefSeq":"NM_032602.2","MANE":"NM_032602.2","APPRIS":"A2","SIFT":"tolerated(0.06)","PolyPhen":"benign(0.396)","EXON":"1/1","DOMAINS":"MobiDB_lite:mobidb-lite;MobiDB_lite:mobidb-lite;PANTHER:PTHR11984:SF9;PANTHER:PTHR11984","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","PHENO":"1","CONTEXT":"AGAGAGTGGGG","tumor_bam_uuid":"1ca7c104-a69e-435d-82c6-ea5c0f8c3e30","normal_bam_uuid":"091dbcd7-456a-42df-92a7-881df7997691","case_id":"d63c028b-b6d3-49ce-b63e-261eed3b86df","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"604","Hugo_Symbol":"NUP210","Entrez_Gene_Id":23225,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr3","Start_Position":13353661,"End_Position":13353661,"Strand":"+","Variant_Classification":"Splice_Site","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-78-7220-01A-11D-2036-08","Matched_Norm_Sample_Barcode":"TCGA-78-7220-10A-01D-2036-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"4875f5f5-61f6-47fb-8ffe-f28ed945c5d2","Matched_Norm_Sample_UUID":"87da45d5-2771-42ed-93e3-b9f5ea2d2d72","HGVSc":"c.2522-1G>T","HGVSp_Short":"p.X841_splice","Transcript_ID":"ENST00000254508","t_depth":67,"t_ref_count":29,"t_alt_count":38,"n_depth":57,"all_effects":"NUP210,splice_acceptor_variant,p.X841_splice,ENST00000254508,NM_024923.4,c.2522-1G>T,HIGH,YES,,,-1;NUP210,splice_acceptor_variant,,ENST00000420141,,n.2605-1G>T,HIGH,,,,-1;NUP210,splice_acceptor_variant,,ENST00000479519,,n.781-1G>T,HIGH,,,,-1","Allele":"A","Gene":"ENSG00000132182","Feature":"ENST00000254508","Feature_type":"Transcript","One_Consequence":"splice_acceptor_variant","Consequence":"splice_acceptor_variant","Existing_variation":"COSV54413420","TRANSCRIPT_STRAND":-1,"SYMBOL":"NUP210","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:30052","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS33704.1","ENSP":"ENSP00000254508","SWISSPROT":"Q8TEM1.152","UNIPARC":"UPI00001600AF","UNIPROT_ISOFORM":"Q8TEM1-1","RefSeq":"NM_024923.4","MANE":"NM_024923.4","APPRIS":"P1","INTRON":"17/39","SOMATIC":"1","IMPACT":"HIGH","PICK":1,"VARIANT_CLASS":"SNV","TSL":2,"PHENO":"1","CONTEXT":"CAAACCTGAGA","tumor_bam_uuid":"95331c76-6de0-454a-a1cf-6239129194fa","normal_bam_uuid":"c1c72029-1e57-4888-ad84-4ce9f127e45d","case_id":"fd5c44ef-ea50-4fba-9e8d-e371cf34ebdb","GDC_FILTER":"NonExonic","COSMIC":"COSM6163125","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"25","Hugo_Symbol":"PLEKHA7","Entrez_Gene_Id":144100,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr11","Start_Position":16791056,"End_Position":16791056,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-99-8032-01A-11D-2238-08","Matched_Norm_Sample_Barcode":"TCGA-99-8032-10A-01D-2238-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"786ce01c-7fa6-45de-b942-750d265d0430","Matched_Norm_Sample_UUID":"1d500b69-b176-4d0e-acb3-1603dea479c5","HGVSc":"c.2889G>T","HGVSp":"p.Arg963Ser","HGVSp_Short":"p.R963S","Transcript_ID":"ENST00000355661","Exon_Number":"20/23","t_depth":138,"t_ref_count":98,"t_alt_count":40,"n_depth":120,"all_effects":"PLEKHA7,missense_variant,p.R963S,ENST00000531066,NM_001329630.2,c.2889G>T,MODERATE,YES,deleterious(0),probably_damaging(0.999),-1;PLEKHA7,missense_variant,p.R963S,ENST00000355661,NM_175058.5&NM_001329631.2,c.2889G>T,MODERATE,,deleterious(0),probably_damaging(0.991),-1;PLEKHA7,missense_variant,p.R595S,ENST00000530489,,c.1785G>T,MODERATE,,deleterious(0),probably_damaging(0.999),-1;PLEKHA7,missense_variant,p.R841S,ENST00000637162,,c.2523G>T,MODERATE,,deleterious(0),probably_damaging(1),-1;PLEKHA7,missense_variant,p.R185S,ENST00000636090,,c.555G>T,MODERATE,,deleterious(0),probably_damaging(0.999),-1;PLEKHA7,missense_variant,p.R369S,ENST00000636113,,c.1107G>T,MODERATE,,deleterious(0),probably_damaging(0.999),-1;PLEKHA7,intron_variant,,ENST00000532079,,c.82-1187G>T,MODIFIER,,,,-1;PLEKHA7,downstream_gene_variant,,ENST00000525581,,,MODIFIER,,,,-1;PLEKHA7,non_coding_transcript_exon_variant,,ENST00000332954,,n.288G>T,MODIFIER,,,,-1;PLEKHA7,upstream_gene_variant,,ENST00000533901,,,MODIFIER,,,,-1;PLEKHA7,non_coding_transcript_exon_variant,,ENST00000531776,,n.290G>T,MODIFIER,,,,-1;PLEKHA7,non_coding_transcript_exon_variant,,ENST00000525781,,n.1642G>T,MODIFIER,,,,-1;PLEKHA7,downstream_gene_variant,,ENST00000525177,,,MODIFIER,,,,-1;PLEKHA7,upstream_gene_variant,,ENST00000533251,,,MODIFIER,,,,-1","Allele":"A","Gene":"ENSG00000166689","Feature":"ENST00000355661","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"2900/4980","CDS_position":"2889/3366","Protein_position":"963/1121","Amino_acids":"R/S","Codons":"agG/agT","Existing_variation":"COSV100261871","TRANSCRIPT_STRAND":-1,"SYMBOL":"PLEKHA7","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:27049","BIOTYPE":"protein_coding","CCDS":"CCDS31434.1","ENSP":"ENSP00000347883","SWISSPROT":"Q6IQ23.142","UNIPARC":"UPI0000456498","UNIPROT_ISOFORM":"Q6IQ23-1","RefSeq":"NM_175058.5;NM_001329631.2","APPRIS":"A2","SIFT":"deleterious(0)","PolyPhen":"probably_damaging(0.991)","EXON":"20/23","DOMAINS":"PANTHER:PTHR12752;PANTHER:PTHR12752:SF4;MobiDB_lite:mobidb-lite;MobiDB_lite:mobidb-lite","SOMATIC":"1","IMPACT":"MODERATE","VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","CONTEXT":"CGCTTCCTCTC","tumor_bam_uuid":"2d10a7d3-630d-468b-84fe-653faef1f262","normal_bam_uuid":"c7ced99d-9586-40ec-9caf-edb7e41fddb8","case_id":"7e83f9dd-b038-497b-a113-a55605398b7b","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"221","Hugo_Symbol":"ENPP5","Entrez_Gene_Id":59084,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr6","Start_Position":46167879,"End_Position":46167879,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"G","Tumor_Sample_Barcode":"TCGA-50-6590-01A-12D-1855-08","Matched_Norm_Sample_Barcode":"TCGA-50-6590-11A-01D-1855-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"85de182b-f4ae-41e6-b3fb-f60f46c072e4","Matched_Norm_Sample_UUID":"6e545822-70c0-4ad2-baf9-76e9621e9bc6","HGVSc":"c.384G>C","HGVSp":"p.Gln128His","HGVSp_Short":"p.Q128H","Transcript_ID":"ENST00000230565","Exon_Number":"2/4","t_depth":130,"t_ref_count":115,"t_alt_count":14,"n_depth":134,"all_effects":"ENPP5,missense_variant,p.Q128H,ENST00000371383,NM_001290072.2,c.384G>C,MODERATE,YES,deleterious(0),probably_damaging(0.996),-1;ENPP5,missense_variant,p.Q128H,ENST00000230565,NM_001290073.1&NM_021572.5,c.384G>C,MODERATE,,deleterious(0),probably_damaging(0.996),-1;ENPP5,upstream_gene_variant,,ENST00000492313,,,MODIFIER,,,,-1","Allele":"G","Gene":"ENSG00000112796","Feature":"ENST00000230565","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"583/2544","CDS_position":"384/1434","Protein_position":"128/477","Amino_acids":"Q/H","Codons":"caG/caC","Existing_variation":"COSV100040378","TRANSCRIPT_STRAND":-1,"SYMBOL":"ENPP5","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:13717","BIOTYPE":"protein_coding","CCDS":"CCDS4915.1","ENSP":"ENSP00000230565","SWISSPROT":"Q9UJA9.143","UNIPARC":"UPI0000072511","RefSeq":"NM_001290073.1;NM_021572.5","APPRIS":"P1","SIFT":"deleterious(0)","PolyPhen":"probably_damaging(0.996)","EXON":"2/4","DOMAINS":"Gene3D:3.40.720.10;PDB-ENSP_mappings:5vem.A;PDB-ENSP_mappings:5vem.B;PDB-ENSP_mappings:5vem.C;Pfam:PF01663;PANTHER:PTHR10151;PANTHER:PTHR10151:SF103;Superfamily:SSF53649;CDD:cd16018","SOMATIC":"1","IMPACT":"MODERATE","VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","CONTEXT":"GCCCTCTGGTT","tumor_bam_uuid":"c3a0209f-cdfd-4686-81f7-b07c2b00d75e","normal_bam_uuid":"e0041872-e3ac-4d87-a086-7a1bea75df2c","case_id":"114a34c0-983b-4d90-9181-1823c9637a63","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"162","Hugo_Symbol":"SHOX2","Entrez_Gene_Id":6474,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr3","Start_Position":158102785,"End_Position":158102785,"Strand":"+","Variant_Classification":"Nonsense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-64-5775-01A-01D-1625-08","Matched_Norm_Sample_Barcode":"TCGA-64-5775-10A-01D-1625-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"c209d392-7d3a-481c-8cc7-398a6b90290a","Matched_Norm_Sample_UUID":"aac91e18-9d58-4f9a-83db-0159e65c37c6","HGVSc":"c.448G>T","HGVSp":"p.Glu150Ter","HGVSp_Short":"p.E150*","Transcript_ID":"ENST00000441443","Exon_Number":"2/5","t_depth":70,"t_ref_count":35,"t_alt_count":34,"n_depth":87,"all_effects":"SHOX2,stop_gained,p.E150*,ENST00000483851,NM_001163678.2,c.448G>T,HIGH,,,,-1;SHOX2,stop_gained,p.E150*,ENST00000441443,NM_006884.3,c.448G>T,HIGH,,,,-1;SHOX2,stop_gained,p.E174*,ENST00000389589,NM_003030.4,c.520G>T,HIGH,YES,,,-1;SHOX2,stop_gained,p.E21*,ENST00000425436,,c.61G>T,HIGH,,,,-1;SHOX2,stop_gained,p.E71*,ENST00000554685,,c.211G>T,HIGH,,,,-1;RSRC1,upstream_gene_variant,,ENST00000480820,,,MODIFIER,,,,1;SHOX2,non_coding_transcript_exon_variant,,ENST00000490689,,n.1595G>T,MODIFIER,,,,-1","Allele":"A","Gene":"ENSG00000168779","Feature":"ENST00000441443","Feature_type":"Transcript","One_Consequence":"stop_gained","Consequence":"stop_gained","cDNA_position":"474/3038","CDS_position":"448/996","Protein_position":"150/331","Amino_acids":"E/*","Codons":"Gaa/Taa","Existing_variation":"COSV101273818;COSV67464718","TRANSCRIPT_STRAND":-1,"SYMBOL":"SHOX2","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:10854","BIOTYPE":"protein_coding","CCDS":"CCDS43164.1","ENSP":"ENSP00000397099","SWISSPROT":"O60902.179","UNIPARC":"UPI00006C2029","UNIPROT_ISOFORM":"O60902-1","RefSeq":"NM_006884.3","APPRIS":"A1","EXON":"2/5","DOMAINS":"CDD:cd00086;Pfam:PF00046;Gene3D:1.10.10.60;SMART:SM00389;Superfamily:SSF46689;PROSITE_profiles:PS50071;PANTHER:PTHR46255:SF1;PANTHER:PTHR46255","SOMATIC":"1;1","IMPACT":"HIGH","VARIANT_CLASS":"SNV","TSL":5,"PHENO":"1;1","CONTEXT":"TTGTTCCAGGG","tumor_bam_uuid":"ad251301-af28-4b78-9d5f-9ae4a2dcf542","normal_bam_uuid":"682d3120-3160-4f5d-962b-bebccee63996","case_id":"c8544fb3-b26e-4672-bb81-a271db724b04","COSMIC":"COSM6096704;COSM6096705","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"356","Hugo_Symbol":"NRXN2","Entrez_Gene_Id":9379,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr11","Start_Position":64651297,"End_Position":64651297,"Strand":"+","Variant_Classification":"Nonsense_Mutation","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"T","Tumor_Sample_Barcode":"TCGA-86-8056-01A-11D-2238-08","Matched_Norm_Sample_Barcode":"TCGA-86-8056-10A-01D-2238-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"6dc6d500-c7f0-4741-92a5-7a8934a53a1e","Matched_Norm_Sample_UUID":"7cae8f4f-aede-4628-b634-0f0aee76f7eb","HGVSc":"c.2876C>A","HGVSp":"p.Ser959Ter","HGVSp_Short":"p.S959*","Transcript_ID":"ENST00000265459","Exon_Number":"14/23","t_depth":79,"t_ref_count":59,"t_alt_count":20,"n_depth":71,"all_effects":"NRXN2,stop_gained,p.S959*,ENST00000265459,NM_001376265.1&NM_001376262.1&NM_015080.4,c.2876C>A,HIGH,YES,,,-1;NRXN2,stop_gained,p.S919*,ENST00000377559,NM_138732.3,c.2756C>A,HIGH,,,,-1;NRXN2,stop_gained,p.S952*,ENST00000409571,NM_001376266.1&NM_001376267.1&NM_001376263.1,c.2855C>A,HIGH,,,,-1;NRXN2,non_coding_transcript_exon_variant,,ENST00000486057,,n.520C>A,MODIFIER,,,,-1;NRXN2-AS1,intron_variant,,ENST00000433606,,n.180+4719G>T,MODIFIER,YES,,,1","Allele":"T","Gene":"ENSG00000110076","Feature":"ENST00000265459","Feature_type":"Transcript","One_Consequence":"stop_gained","Consequence":"stop_gained","cDNA_position":"3347/6632","CDS_position":"2876/5139","Protein_position":"959/1712","Amino_acids":"S/*","Codons":"tCg/tAg","Existing_variation":"COSV55450576;COSV99635738","TRANSCRIPT_STRAND":-1,"SYMBOL":"NRXN2","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:8009","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS8077.1","ENSP":"ENSP00000265459","SWISSPROT":"Q9P2S2.179","UNIPARC":"UPI0000130AA2","UNIPROT_ISOFORM":"Q9P2S2-1","RefSeq":"NM_001376265.1;NM_001376262.1;NM_015080.4","MANE":"NM_015080.4","APPRIS":"P4","EXON":"14/23","DOMAINS":"Gene3D:2.60.120.200;Pfam:PF02210;PROSITE_profiles:PS50025;PANTHER:PTHR15036;PANTHER:PTHR15036:SF52;SMART:SM00282;Superfamily:SSF49899;CDD:cd00110","SOMATIC":"1;1","IMPACT":"HIGH","VARIANT_CLASS":"SNV","TSL":5,"PHENO":"1;1","GENE_PHENO":"1","CONTEXT":"TGCCCGAGTTG","tumor_bam_uuid":"65d5ece2-08bd-44e8-bf80-43bcc01d5f97","normal_bam_uuid":"f7c1f639-688f-4b3c-ac2d-2a887abb39ca","case_id":"472337c2-a2fc-403a-8c17-69511193128b","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"521","Hugo_Symbol":"TRAV8-4","Entrez_Gene_Id":28682,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr14","Start_Position":21894899,"End_Position":21894899,"Strand":"+","Variant_Classification":"Silent","Variant_Type":"SNP","Reference_Allele":"A","Tumor_Seq_Allele1":"A","Tumor_Seq_Allele2":"T","dbSNP_RS":"novel","Tumor_Sample_Barcode":"TCGA-55-8507-01A-11D-2393-08","Matched_Norm_Sample_Barcode":"TCGA-55-8507-10A-01D-2393-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"7f80e586-a01e-4500-8669-3ab11653306a","Matched_Norm_Sample_UUID":"685bf1a3-c398-458d-9906-7251883d89dd","HGVSc":"c.210A>T","HGVSp":"p.Thr70=","HGVSp_Short":"p.T70=","Transcript_ID":"ENST00000390438","Exon_Number":"2/2","t_depth":190,"t_ref_count":132,"t_alt_count":57,"n_depth":304,"all_effects":"TRAV8-4,synonymous_variant,p.T70=,ENST00000390438,,c.210A>T,LOW,YES,,,1","Allele":"T","Gene":"ENSG00000211790","Feature":"ENST00000390438","Feature_type":"Transcript","One_Consequence":"synonymous_variant","Consequence":"synonymous_variant","cDNA_position":"338/469","CDS_position":"210/341","Protein_position":"70/113","Amino_acids":"T","Codons":"acA/acT","TRANSCRIPT_STRAND":1,"SYMBOL":"TRAV8-4","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:12149","BIOTYPE":"TR_V_gene","CANONICAL":"YES","ENSP":"ENSP00000445942","SWISSPROT":"P01737.132","UNIPARC":"UPI000011C70D","APPRIS":"P1","FLAGS":"cds_end_NF","EXON":"2/2","IMPACT":"LOW","PICK":1,"VARIANT_CLASS":"SNV","CONTEXT":"TACACATCAGC","tumor_bam_uuid":"1ca7c104-a69e-435d-82c6-ea5c0f8c3e30","normal_bam_uuid":"091dbcd7-456a-42df-92a7-881df7997691","case_id":"d63c028b-b6d3-49ce-b63e-261eed3b86df","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2"}
{"X1":"502","Hugo_Symbol":"SLC26A7","Entrez_Gene_Id":115111,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr8","Start_Position":91363534,"End_Position":91363534,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"A","Tumor_Seq_Allele1":"A","Tumor_Seq_Allele2":"T","Tumor_Sample_Barcode":"TCGA-95-7039-01A-11D-1945-08","Matched_Norm_Sample_Barcode":"TCGA-95-7039-10A-01D-1946-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"2d834605-102b-4b3a-a2fa-b26525c77acf","Matched_Norm_Sample_UUID":"fd2074ee-309f-48f9-a122-92a5bb8ee1f2","HGVSc":"c.1484A>T","HGVSp":"p.Asp495Val","HGVSp_Short":"p.D495V","Transcript_ID":"ENST00000276609","Exon_Number":"13/19","t_depth":33,"t_ref_count":25,"t_alt_count":8,"n_depth":28,"all_effects":"SLC26A7,missense_variant,p.D495V,ENST00000617233,,c.1484A>T,MODERATE,,deleterious(0.04),benign(0.09),1;SLC26A7,missense_variant,p.D495V,ENST00000276609,NM_052832.4,c.1484A>T,MODERATE,,deleterious(0.04),benign(0.09),1;SLC26A7,missense_variant,p.D194V,ENST00000617078,NM_001282357.2,c.581A>T,MODERATE,,deleterious(0.03),benign(0.09),1;SLC26A7,missense_variant,p.D495V,ENST00000523719,NM_001282356.2,c.1484A>T,MODERATE,,deleterious(0.04),benign(0.09),1;SLC26A7,missense_variant,p.D495V,ENST00000309536,NM_134266.2,c.1484A>T,MODERATE,YES,deleterious(0.03),benign(0.086),1;SLC26A7,non_coding_transcript_exon_variant,,ENST00000520249,,n.612A>T,MODIFIER,,,,1;SLC26A7,non_coding_transcript_exon_variant,,ENST00000517930,,n.249A>T,MODIFIER,,,,1;SLC26A7,3_prime_UTR_variant,,ENST00000522181,,c.*591A>T,MODIFIER,,,,1","Allele":"T","Gene":"ENSG00000147606","Feature":"ENST00000276609","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"1692/5237","CDS_position":"1484/1971","Protein_position":"495/656","Amino_acids":"D/V","Codons":"gAc/gTc","Existing_variation":"COSV52606317","TRANSCRIPT_STRAND":1,"SYMBOL":"SLC26A7","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:14467","BIOTYPE":"protein_coding","CCDS":"CCDS6254.1","ENSP":"ENSP00000276609","SWISSPROT":"Q8TE54.123","UNIPARC":"UPI0000046B1E","UNIPROT_ISOFORM":"Q8TE54-1","RefSeq":"NM_052832.4","MANE":"NM_052832.4","APPRIS":"P1","SIFT":"deleterious(0.04)","PolyPhen":"benign(0.09)","EXON":"13/19","DOMAINS":"Gene3D:3.30.750.24;Pfam:PF01740;PROSITE_profiles:PS50801;PANTHER:PTHR11814;PANTHER:PTHR11814:SF75;Superfamily:SSF52091;CDD:cd07042","SOMATIC":"1","IMPACT":"MODERATE","VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","CONTEXT":"AATGGACAGTG","tumor_bam_uuid":"07778240-7ff7-442d-bda7-41cd125e566f","normal_bam_uuid":"476724d7-6775-4121-bc23-5740ad8c77b6","case_id":"ae702159-5b6a-41dd-868c-7540f9e1131c","COSMIC":"COSM6181790;COSM6181791","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"462","Hugo_Symbol":"SPAST","Entrez_Gene_Id":6683,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr2","Start_Position":32141930,"End_Position":32141930,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"G","Tumor_Sample_Barcode":"TCGA-62-8394-01A-11D-2323-08","Matched_Norm_Sample_Barcode":"TCGA-62-8394-10A-01D-2323-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"5fe53cd5-76dc-491e-aa85-bd85386e1fc5","Matched_Norm_Sample_UUID":"95c5ac14-9da0-40f8-a7d5-dac263b19b66","HGVSc":"c.1520C>G","HGVSp":"p.Ser507Cys","HGVSp_Short":"p.S507C","Transcript_ID":"ENST00000315285","Exon_Number":"13/17","t_depth":39,"t_ref_count":34,"t_alt_count":5,"n_depth":32,"all_effects":"SPAST,missense_variant,p.S507C,ENST00000315285,NM_014946.4,c.1520C>G,MODERATE,YES,tolerated(0.08),benign(0.096),1;SPAST,missense_variant,p.S475C,ENST00000646571,NM_199436.2,c.1424C>G,MODERATE,,tolerated(0.09),benign(0.075),1;SPAST,missense_variant,p.S389C,ENST00000644954,,c.1166C>G,MODERATE,,tolerated(0.1),benign(0.075),1;SPAST,missense_variant,p.S421C,ENST00000642999,,c.1262C>G,MODERATE,,tolerated(0.07),benign(0.096),1;SPAST,missense_variant,p.S432C,ENST00000642751,NM_001377959.1,c.1295C>G,MODERATE,,tolerated(0.08),possibly_damaging(0.574),1;SPAST,missense_variant,p.S341C,ENST00000647133,,c.1022C>G,MODERATE,,tolerated(0.08),benign(0.029),1;SPAST,missense_variant,p.S466C,ENST00000644408,,c.1397C>G,MODERATE,,tolerated(0.09),benign(0.019),1;SPAST,missense_variant,p.S420C,ENST00000642281,,c.1259C>G,MODERATE,,tolerated(0.1),possibly_damaging(0.882),1;SPAST,missense_variant,p.S474C,ENST00000642455,NM_001363875.2,c.1421C>G,MODERATE,,tolerated(0.09),possibly_damaging(0.665),1;SPAST,missense_variant,p.S506C,ENST00000621856,NM_001363823.2,c.1517C>G,MODERATE,,tolerated(0.08),benign(0.028),1;SPAST,missense_variant,p.S324C,ENST00000645671,,c.971C>G,MODERATE,,tolerated(0.1),possibly_damaging(0.665),1;SPAST,missense_variant,p.S234C,ENST00000645730,,c.701C>G,MODERATE,,tolerated(0.09),possibly_damaging(0.718),1;SPAST,non_coding_transcript_exon_variant,,ENST00000647007,,n.1212C>G,MODIFIER,,,,1;SPAST,3_prime_UTR_variant,,ENST00000646082,,c.*630C>G,MODIFIER,,,,1;SPAST,3_prime_UTR_variant,,ENST00000643334,,c.*882C>G,MODIFIER,,,,1;SPAST,3_prime_UTR_variant,,ENST00000643327,,c.*87C>G,MODIFIER,,,,1;SPAST,non_coding_transcript_exon_variant,,ENST00000645159,,n.2257C>G,MODIFIER,,,,1","Allele":"G","Gene":"ENSG00000021574","Feature":"ENST00000315285","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"1796/5268","CDS_position":"1520/1851","Protein_position":"507/616","Amino_acids":"S/C","Codons":"tCt/tGt","Existing_variation":"COSV100188590","TRANSCRIPT_STRAND":1,"SYMBOL":"SPAST","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:11233","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS1778.1","ENSP":"ENSP00000320885","SWISSPROT":"Q9UBP0.192","TREMBL":"E5KRP5.81","UNIPARC":"UPI0000038A6B","UNIPROT_ISOFORM":"Q9UBP0-1","RefSeq":"NM_014946.4","MANE":"NM_014946.4","APPRIS":"P4","SIFT":"tolerated(0.08)","PolyPhen":"benign(0.096)","EXON":"13/17","DOMAINS":"PDB-ENSP_mappings:3vfd.A;PDB-ENSP_mappings:5z6q.A;PDB-ENSP_mappings:5z6r.A;PDB-ENSP_mappings:6pek.A;PDB-ENSP_mappings:6pek.B;PDB-ENSP_mappings:6pek.C;PDB-ENSP_mappings:6pek.D;PDB-ENSP_mappings:6pek.E;PDB-ENSP_mappings:6pen.A;PDB-ENSP_mappings:6pen.B;PDB-ENSP_mappings:6pen.C;PDB-ENSP_mappings:6pen.D;PDB-ENSP_mappings:6pen.E;PDB-ENSP_mappings:6pen.F;HAMAP:MF_03021;CDD:cd00009;PANTHER:PTHR23074:SF86;PANTHER:PTHR23074;Pfam:PF00004;Gene3D:3.40.50.300;PIRSF:PIRSF037338;SMART:SM00382;Superfamily:SSF52540","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","GENE_PHENO":"1","CONTEXT":"TGTGTCTTTAC","tumor_bam_uuid":"05283694-83ee-461a-b9b2-2b89721f4fbc","normal_bam_uuid":"8be63f8c-50c3-4e31-acab-208815a55017","case_id":"742e0e32-25b5-4d41-8bf5-364b571cfd93","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2"}
{"X1":"159","Hugo_Symbol":"PYHIN1","Entrez_Gene_Id":149628,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr1","Start_Position":158941986,"End_Position":158941986,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-95-7043-01A-11D-1945-08","Matched_Norm_Sample_Barcode":"TCGA-95-7043-10A-01D-1946-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"86040fdc-caa7-4c13-af9c-c3f78b79930f","Matched_Norm_Sample_UUID":"7a16b2f7-cb45-4f60-a779-4455e89b1f1e","HGVSc":"c.589C>A","HGVSp":"p.Pro197Thr","HGVSp_Short":"p.P197T","Transcript_ID":"ENST00000368140","Exon_Number":"5/9","t_depth":24,"t_ref_count":11,"t_alt_count":13,"n_depth":28,"all_effects":"PYHIN1,missense_variant,p.P197T,ENST00000368140,NM_152501.5,c.589C>A,MODERATE,YES,tolerated(0.81),benign(0.006),1;PYHIN1,missense_variant,p.P188T,ENST00000368138,NM_198928.5,c.562C>A,MODERATE,,tolerated(0.79),benign(0.013),1;PYHIN1,missense_variant,p.P197T,ENST00000392254,NM_198929.5,c.589C>A,MODERATE,,tolerated(1),benign(0.007),1;PYHIN1,missense_variant,p.P188T,ENST00000392252,NM_198930.4,c.562C>A,MODERATE,,tolerated(1),benign(0.007),1;PYHIN1,downstream_gene_variant,,ENST00000368135,,,MODIFIER,,,,1;PYHIN1,downstream_gene_variant,,ENST00000458222,,,MODIFIER,,,,1;PYHIN1,non_coding_transcript_exon_variant,,ENST00000485134,,n.10C>A,MODIFIER,,,,1","Allele":"A","Gene":"ENSG00000163564","Feature":"ENST00000368140","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"834/2088","CDS_position":"589/1479","Protein_position":"197/492","Amino_acids":"P/T","Codons":"Cca/Aca","Existing_variation":"COSV63722359","TRANSCRIPT_STRAND":1,"SYMBOL":"PYHIN1","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:28894","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS1178.1","ENSP":"ENSP00000357122","SWISSPROT":"Q6K0P9.126","UNIPARC":"UPI0000225618","UNIPROT_ISOFORM":"Q6K0P9-1","RefSeq":"NM_152501.5","MANE":"NM_152501.5","APPRIS":"P4","SIFT":"tolerated(0.81)","PolyPhen":"benign(0.006)","EXON":"5/9","DOMAINS":"PANTHER:PTHR12200;PANTHER:PTHR12200:SF26;MobiDB_lite:mobidb-lite;MobiDB_lite:mobidb-lite","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","CONTEXT":"TAAAACCATTG","tumor_bam_uuid":"c903dfd7-c694-4941-880a-9d82737f919e","normal_bam_uuid":"08cc6968-549a-44e2-9ae2-394b37ed8b27","case_id":"c650b1ff-8a4c-4ee9-b7c1-268c28c83827","COSMIC":"COSM6121954;COSM6121955","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"272","Hugo_Symbol":"MTUS2","Entrez_Gene_Id":23281,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr13","Start_Position":29025061,"End_Position":29025061,"Strand":"+","Variant_Classification":"Silent","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"T","Tumor_Sample_Barcode":"TCGA-73-A9RS-01A-11D-A410-08","Matched_Norm_Sample_Barcode":"TCGA-73-A9RS-10A-01D-A413-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"7c89393e-6976-44d5-896d-5648b0d092f4","Matched_Norm_Sample_UUID":"3ad125f9-b7cc-4814-b1e8-983a26dcd72c","HGVSc":"c.363G>T","HGVSp":"p.Leu121=","HGVSp_Short":"p.L121=","Transcript_ID":"ENST00000612955","Exon_Number":"3/16","t_depth":62,"t_ref_count":52,"t_alt_count":10,"n_depth":84,"all_effects":"MTUS2,synonymous_variant,p.L121=,ENST00000612955,NM_001366650.1&NM_001366651.1&NM_001033602.3,c.363G>T,LOW,YES,,,1","Allele":"T","Gene":"ENSG00000132938","Feature":"ENST00000612955","Feature_type":"Transcript","One_Consequence":"synonymous_variant","Consequence":"synonymous_variant","cDNA_position":"942/7430","CDS_position":"363/4110","Protein_position":"121/1369","Amino_acids":"L","Codons":"ctG/ctT","Existing_variation":"COSV101462418","TRANSCRIPT_STRAND":1,"SYMBOL":"MTUS2","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:20595","BIOTYPE":"protein_coding","CANONICAL":"YES","ENSP":"ENSP00000483729","SWISSPROT":"Q5JR59.136","UNIPARC":"UPI0000E00F4A","UNIPROT_ISOFORM":"Q5JR59-2","RefSeq":"NM_001366650.1;NM_001366651.1;NM_001033602.3","EXON":"3/16","SOMATIC":"1","IMPACT":"LOW","PICK":1,"VARIANT_CLASS":"SNV","TSL":5,"PHENO":"1","CONTEXT":"AGCCTGCAGAC","tumor_bam_uuid":"2ebbaf59-2d2d-46d9-a3b1-9926c4d982ab","normal_bam_uuid":"9a730bc0-3aa1-496a-8c7a-cc6f3d4320b6","case_id":"2a394996-809f-459f-a647-d209921ccbd2","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"230","Hugo_Symbol":"DNAH8","Entrez_Gene_Id":1769,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr6","Start_Position":38850289,"End_Position":38850289,"Strand":"+","Variant_Classification":"Silent","Variant_Type":"SNP","Reference_Allele":"A","Tumor_Seq_Allele1":"A","Tumor_Seq_Allele2":"T","Tumor_Sample_Barcode":"TCGA-49-6744-01A-11D-1855-08","Matched_Norm_Sample_Barcode":"TCGA-49-6744-11A-01D-1855-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"bf6ba698-7154-4d7f-b076-24ac2f768696","Matched_Norm_Sample_UUID":"2c3be991-7581-48e9-8ebb-054eedf79d45","HGVSc":"c.4587A>T","HGVSp":"p.Ile1529=","HGVSp_Short":"p.I1529=","Transcript_ID":"ENST00000359357","Exon_Number":"36/91","t_depth":98,"t_ref_count":82,"t_alt_count":16,"n_depth":124,"all_effects":"DNAH8,synonymous_variant,p.I1746=,ENST00000327475,NM_001206927.2,c.5238A>T,LOW,YES,,,1;DNAH8,synonymous_variant,p.I1529=,ENST00000359357,NM_001371.4,c.4587A>T,LOW,,,,1;DNAH8,synonymous_variant,p.I1746=,ENST00000449981,,c.5238A>T,LOW,,,,1","Allele":"T","Gene":"ENSG00000124721","Feature":"ENST00000359357","Feature_type":"Transcript","One_Consequence":"synonymous_variant","Consequence":"synonymous_variant","cDNA_position":"4841/13864","CDS_position":"4587/13473","Protein_position":"1529/4490","Amino_acids":"I","Codons":"atA/atT","Existing_variation":"COSV59475339","TRANSCRIPT_STRAND":1,"SYMBOL":"DNAH8","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:2952","BIOTYPE":"protein_coding","ENSP":"ENSP00000352312","SWISSPROT":"Q96JB1.136","UNIPARC":"UPI00003677EB","UNIPROT_ISOFORM":"Q96JB1-1","RefSeq":"NM_001371.4","APPRIS":"A2","EXON":"36/91","DOMAINS":"Gene3D:1.20.140.100;Pfam:PF08393;PANTHER:PTHR10676;PANTHER:PTHR10676:SF361","SOMATIC":"1","IMPACT":"LOW","VARIANT_CLASS":"SNV","TSL":2,"PHENO":"1","CONTEXT":"TGGATAAAAAT","tumor_bam_uuid":"0f3015be-e96e-4763-9722-8372e0e61221","normal_bam_uuid":"c6ad90d1-a4e9-45fe-a165-cadb8aa1246c","case_id":"15340dd3-84ae-49fb-989a-eb212f3e73da","COSMIC":"COSM6106709;COSM6106710;COSM6106711","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"231","Hugo_Symbol":"NPC1","Entrez_Gene_Id":4864,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr18","Start_Position":23539914,"End_Position":23539914,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-50-5072-01A-21D-1855-08","Matched_Norm_Sample_Barcode":"TCGA-50-5072-10A-01D-1855-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"3c6dcba5-1312-40ca-b589-07f7d88b3477","Matched_Norm_Sample_UUID":"96a904cf-e50e-4320-8d23-2dd095845c5e","HGVSc":"c.2692G>T","HGVSp":"p.Asp898Tyr","HGVSp_Short":"p.D898Y","Transcript_ID":"ENST00000269228","Exon_Number":"18/25","t_depth":81,"t_ref_count":63,"t_alt_count":17,"n_depth":99,"all_effects":"NPC1,missense_variant,p.D898Y,ENST00000269228,NM_000271.5,c.2692G>T,MODERATE,YES,deleterious(0),possibly_damaging(0.786),-1;NPC1,missense_variant,p.D591Y,ENST00000591051,,c.1771G>T,MODERATE,,deleterious(0),probably_damaging(0.957),-1;NPC1,upstream_gene_variant,,ENST00000586150,,,MODIFIER,,,,-1;NPC1,upstream_gene_variant,,ENST00000591107,,,MODIFIER,,,,-1;NPC1,non_coding_transcript_exon_variant,,ENST00000540608,,n.2606G>T,MODIFIER,,,,-1;NPC1,non_coding_transcript_exon_variant,,ENST00000586718,,n.483G>T,MODIFIER,,,,-1;NPC1,upstream_gene_variant,,ENST00000588867,,,MODIFIER,,,,-1;NPC1,upstream_gene_variant,,ENST00000591075,,,MODIFIER,,,,-1;NPC1,upstream_gene_variant,,ENST00000591955,,,MODIFIER,,,,-1","Allele":"A","Gene":"ENSG00000141458","Feature":"ENST00000269228","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"2855/4760","CDS_position":"2692/3837","Protein_position":"898/1278","Amino_acids":"D/Y","Codons":"Gac/Tac","Existing_variation":"CM1413846;COSV52582837","TRANSCRIPT_STRAND":-1,"SYMBOL":"NPC1","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:7897","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS11878.1","ENSP":"ENSP00000269228","SWISSPROT":"O15118.195","UNIPARC":"UPI000013D80F","UNIPROT_ISOFORM":"O15118-1","RefSeq":"NM_000271.5","MANE":"NM_000271.5","APPRIS":"P1","SIFT":"deleterious(0)","PolyPhen":"possibly_damaging(0.786)","EXON":"18/25","DOMAINS":"PDB-ENSP_mappings:3jd8.A;PDB-ENSP_mappings:5jnx.A;PDB-ENSP_mappings:5u73.A;PDB-ENSP_mappings:5u74.A;PDB-ENSP_mappings:6uox.A;PANTHER:PTHR45727;TIGRFAM:TIGR00917","SOMATIC":"0;1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1;1","GENE_PHENO":"1","CONTEXT":"GTAGTCGTGCC","tumor_bam_uuid":"fcd7f715-e0a7-4b30-94e9-f71b9d9f08db","normal_bam_uuid":"0a052a7e-a894-4736-8b25-cb2c0e9222d8","case_id":"1575148b-0f63-44ee-86fd-93ae1a02be0b","COSMIC":"COSM6082271;COSM6082272","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"347","Hugo_Symbol":"PCDHB8","Entrez_Gene_Id":56128,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr5","Start_Position":141179627,"End_Position":141179627,"Strand":"+","Variant_Classification":"Silent","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"A","dbSNP_RS":"rs782469014","Tumor_Sample_Barcode":"TCGA-44-2656-01A-02D-A271-08","Matched_Norm_Sample_Barcode":"TCGA-44-2656-10A-01D-0969-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"989eccfd-d0e0-45ca-af4c-7324d450e956","Matched_Norm_Sample_UUID":"03b8420d-480f-48e1-88a7-8ee9917049a6","HGVSc":"c.1593G>A","HGVSp":"p.Arg531=","HGVSp_Short":"p.R531=","Transcript_ID":"ENST00000239444","Exon_Number":"1/1","t_depth":327,"t_ref_count":288,"t_alt_count":38,"n_depth":465,"all_effects":"PCDHB8,synonymous_variant,p.R531=,ENST00000239444,NM_019120.5,c.1593G>A,LOW,YES,,,1;PCDHB7,downstream_gene_variant,,ENST00000231137,NM_018940.4,,MODIFIER,YES,,,1;PCDHB16,upstream_gene_variant,,ENST00000609684,NM_020957.3,,MODIFIER,YES,,,1;PCDHB16,upstream_gene_variant,,ENST00000625044,,,MODIFIER,,,,1;AC244517.8,intron_variant,,ENST00000623995,,n.221+1558G>A,MODIFIER,YES,,,1;AC244517.11,intron_variant,,ENST00000624192,,n.73-42444C>T,MODIFIER,,,,-1;AC244517.6,upstream_gene_variant,,ENST00000623407,,,MODIFIER,YES,,,1;AC244517.6,upstream_gene_variant,,ENST00000623884,,,MODIFIER,,,,1;AC244517.4,downstream_gene_variant,,ENST00000624089,,,MODIFIER,,,,-1;AC244517.4,downstream_gene_variant,,ENST00000624549,,,MODIFIER,YES,,,-1","Allele":"A","Gene":"ENSG00000120322","Feature":"ENST00000239444","Feature_type":"Transcript","One_Consequence":"synonymous_variant","Consequence":"synonymous_variant","cDNA_position":"1838/2750","CDS_position":"1593/2406","Protein_position":"531/801","Amino_acids":"R","Codons":"cgG/cgA","Existing_variation":"rs782469014;COSV50755816;COSV50774307;COSV50808561","TRANSCRIPT_STRAND":1,"SYMBOL":"PCDHB8","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:8693","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS4250.1","ENSP":"ENSP00000239444","SWISSPROT":"Q9UN66.164","UNIPARC":"UPI000192C41A","RefSeq":"NM_019120.5","MANE":"NM_019120.5","APPRIS":"P1","EXON":"1/1","DOMAINS":"Gene3D:2.60.40.60;Pfam:PF00028;Prints:PR00205;PROSITE_profiles:PS50268;PANTHER:PTHR24028;PANTHER:PTHR24028:SF150;SMART:SM00112;Superfamily:SSF49313;CDD:cd11304","gnomAD_AF":"7.96e-06","gnomAD_AFR_AF":"0","gnomAD_AMR_AF":"0","gnomAD_ASJ_AF":"0","gnomAD_EAS_AF":"0","gnomAD_FIN_AF":"0","gnomAD_NFE_AF":"1.761e-05","gnomAD_OTH_AF":"0","gnomAD_SAS_AF":"0","MAX_AF":"1.761e-05","MAX_AF_POPS":"gnomAD_NFE","SOMATIC":"0;1;1;1","IMPACT":"LOW","VARIANT_CLASS":"SNV","PHENO":"0;1;1;1","CONTEXT":"TTCCGGGTGGG","tumor_bam_uuid":"c9d383fc-9657-4a4e-8939-af266b798094","normal_bam_uuid":"ada4ffdf-3ba5-4ad0-8eb4-634d04b2b9b8","case_id":"42ca54fc-c1ae-41cd-bca1-7fe9810db460","COSMIC":"COSM6102359","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"67","Hugo_Symbol":"IGHV1OR15-9","Entrez_Gene_Id":390531,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr15","Start_Position":19965070,"End_Position":19965070,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"A","Tumor_Seq_Allele1":"A","Tumor_Seq_Allele2":"T","dbSNP_RS":"novel","Tumor_Sample_Barcode":"TCGA-L9-A8F4-01A-11D-A397-08","Matched_Norm_Sample_Barcode":"TCGA-L9-A8F4-10A-01D-A39A-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"6e41d3ec-afb4-4027-9728-f09f8c37c196","Matched_Norm_Sample_UUID":"a6fd41f7-923e-4022-b2ad-f264552b1732","HGVSc":"c.32T>A","HGVSp":"p.Val11Glu","HGVSp_Short":"p.V11E","Transcript_ID":"ENST00000338912","Exon_Number":"1/2","t_depth":104,"t_ref_count":78,"t_alt_count":25,"n_depth":127,"all_effects":"IGHV1OR15-9,missense_variant,p.V11E,ENST00000338912,,c.32T>A,MODERATE,YES,deleterious(0),possibly_damaging(0.84),-1;SLC20A1P3,downstream_gene_variant,,ENST00000555979,,,MODIFIER,YES,,,-1","Allele":"T","Gene":"ENSG00000188403","Feature":"ENST00000338912","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"32/353","CDS_position":"32/353","Protein_position":"11/117","Amino_acids":"V/E","Codons":"gTg/gAg","TRANSCRIPT_STRAND":-1,"SYMBOL":"IGHV1OR15-9","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:5569","BIOTYPE":"IG_V_gene","CANONICAL":"YES","ENSP":"ENSP00000474639","TREMBL":"A0A0B4J2B8.30","UNIPARC":"UPI0000113A94","APPRIS":"P1","FLAGS":"cds_end_NF","SIFT":"deleterious(0)","PolyPhen":"possibly_damaging(0.84)","EXON":"1/2","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","CONTEXT":"TGACCACCAAA","tumor_bam_uuid":"d16b846a-05d3-4470-8735-cd93fe336e5d","normal_bam_uuid":"197912f7-2f86-41ca-bdfb-65322e773cad","case_id":"927fc5e0-2c14-4c20-a49b-f10d8a1175c3","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"179","Hugo_Symbol":"SPTB","Entrez_Gene_Id":6710,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr14","Start_Position":64771084,"End_Position":64771084,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-86-8073-01A-11D-2238-08","Matched_Norm_Sample_Barcode":"TCGA-86-8073-10A-01D-2238-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"b7268ee3-2840-467c-9e11-8e269ccc60a8","Matched_Norm_Sample_UUID":"653e6401-123b-4136-b07b-26c50359235e","HGVSc":"c.5599G>T","HGVSp":"p.Ala1867Ser","HGVSp_Short":"p.A1867S","Transcript_ID":"ENST00000644917","Exon_Number":"27/36","t_depth":299,"t_ref_count":251,"t_alt_count":48,"n_depth":252,"all_effects":"SPTB,missense_variant,p.A1867S,ENST00000644917,NM_001355436.2,c.5599G>T,MODERATE,YES,deleterious(0.04),probably_damaging(0.969),-1;SPTB,missense_variant,p.A1867S,ENST00000389722,NM_001024858.3,c.5599G>T,MODERATE,,deleterious(0.04),probably_damaging(0.969),-1;SPTB,missense_variant,p.A1867S,ENST00000389720,NM_001355437.2,c.5599G>T,MODERATE,,deleterious(0.04),probably_damaging(0.998),-1;SPTB,missense_variant,p.A532S,ENST00000553938,,c.1594G>T,MODERATE,,deleterious(0),possibly_damaging(0.718),-1;SPTB,upstream_gene_variant,,ENST00000542694,,,MODIFIER,,,,-1","Allele":"A","Gene":"ENSG00000070182","Feature":"ENST00000644917","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"5766/10177","CDS_position":"5599/6987","Protein_position":"1867/2328","Amino_acids":"A/S","Codons":"Gct/Tct","Existing_variation":"COSV101072026","TRANSCRIPT_STRAND":-1,"SYMBOL":"SPTB","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:11274","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS32099.1","ENSP":"ENSP00000495909","SWISSPROT":"P11277.210","UNIPARC":"UPI000053030D","UNIPROT_ISOFORM":"P11277-2","RefSeq":"NM_001355436.2","MANE":"NM_001355436.2","APPRIS":"P1","SIFT":"deleterious(0.04)","PolyPhen":"probably_damaging(0.969)","EXON":"27/36","DOMAINS":"Gene3D:1.20.58.1940;Pfam:PF00435;PIRSF:PIRSF002297;PANTHER:PTHR11915;PANTHER:PTHR11915:SF248;SMART:SM00150;Superfamily:SSF46966;CDD:cd00176;CDD:cd00176","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","PHENO":"1","GENE_PHENO":"1","CONTEXT":"CCCAGCATATG","tumor_bam_uuid":"f9aa0e56-bd51-42c1-8e42-ca452b9748ff","normal_bam_uuid":"035edb39-aa44-4b26-b409-3558f2903753","case_id":"cd902d08-215e-4bd0-88e4-4fd01ab43cbf","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"479","Hugo_Symbol":"PCDH11X","Entrez_Gene_Id":27328,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chrX","Start_Position":91879055,"End_Position":91879055,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"T","Tumor_Seq_Allele1":"T","Tumor_Seq_Allele2":"C","Tumor_Sample_Barcode":"TCGA-50-5933-01A-11D-1753-08","Matched_Norm_Sample_Barcode":"TCGA-50-5933-11A-01D-1753-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1","Matched_Norm_Sample_UUID":"90712f33-34db-4346-ab22-59c1a11ebe99","HGVSc":"c.2815T>C","HGVSp":"p.Tyr939His","HGVSp_Short":"p.Y939H","Transcript_ID":"ENST00000373094","Exon_Number":"2/7","t_depth":105,"t_ref_count":53,"t_alt_count":52,"n_depth":119,"all_effects":"PCDH11X,missense_variant,p.Y939H,ENST00000373094,NM_032968.4,c.2815T>C,MODERATE,YES,deleterious(0),probably_damaging(1),1;PCDH11X,missense_variant,p.Y939H,ENST00000373097,NM_032969.4,c.2815T>C,MODERATE,,deleterious(0),probably_damaging(1),1;PCDH11X,missense_variant,p.Y939H,ENST00000406881,NM_001168360.1,c.2815T>C,MODERATE,,deleterious(0),probably_damaging(1),1;PCDH11X,missense_variant,p.Y939H,ENST00000361655,NM_001168363.1,c.2815T>C,MODERATE,,deleterious(0),probably_damaging(0.999),1;PCDH11X,missense_variant,p.Y939H,ENST00000373088,NM_001168362.1,c.2815T>C,MODERATE,,deleterious(0),probably_damaging(0.999),1;PCDH11X,missense_variant,p.Y939H,ENST00000504220,NM_001168361.1,c.2815T>C,MODERATE,,deleterious(0),probably_damaging(1),1;PCDH11X,non_coding_transcript_exon_variant,,ENST00000298274,,n.3448T>C,MODIFIER,,,,1;PCDH11X,non_coding_transcript_exon_variant,,ENST00000361724,,n.3660T>C,MODIFIER,,,,1","Allele":"C","Gene":"ENSG00000102290","Feature":"ENST00000373094","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"3660/9179","CDS_position":"2815/4044","Protein_position":"939/1347","Amino_acids":"Y/H","Codons":"Tac/Cac","Existing_variation":"COSV53501417","TRANSCRIPT_STRAND":1,"SYMBOL":"PCDH11X","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:8656","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS14461.1","ENSP":"ENSP00000362186","SWISSPROT":"Q9BZA7.155","UNIPARC":"UPI0000070BD8","UNIPROT_ISOFORM":"Q9BZA7-1","RefSeq":"NM_032968.4","APPRIS":"P4","SIFT":"deleterious(0)","PolyPhen":"probably_damaging(1)","EXON":"2/7","DOMAINS":"Pfam:PF08374;PANTHER:PTHR24028;PANTHER:PTHR24028:SF254","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","CONTEXT":"GACACTACAAA","tumor_bam_uuid":"2822f152-0aaa-4237-a406-0f0059f43194","normal_bam_uuid":"0be085bd-a958-466e-afa1-f1d527e90517","case_id":"7a0ea814-f0de-4bc4-a81a-daa000559369","COSMIC":"COSM6120027;COSM6120028;COSM6120029;COSM6120030;COSM6120031","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"255","Hugo_Symbol":"OR51I2","Entrez_Gene_Id":390064,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr11","Start_Position":5453743,"End_Position":5453743,"Strand":"+","Variant_Classification":"Silent","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"T","Tumor_Sample_Barcode":"TCGA-44-5644-01A-21D-2036-08","Matched_Norm_Sample_Barcode":"TCGA-44-5644-10A-01D-2036-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"f6d5ee31-78c9-4f62-98c1-d2993a65e547","Matched_Norm_Sample_UUID":"4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d","HGVSc":"c.255C>T","HGVSp":"p.Phe85=","HGVSp_Short":"p.F85=","Transcript_ID":"ENST00000341449","Exon_Number":"1/1","t_depth":80,"t_ref_count":54,"t_alt_count":26,"n_depth":145,"all_effects":"OR51I2,synonymous_variant,p.F85=,ENST00000641930,,c.255C>T,LOW,YES,,,1;OR51I2,synonymous_variant,p.F85=,ENST00000341449,NM_001004754.2,c.255C>T,LOW,,,,1;HBE1,intron_variant,,ENST00000292896,,c.-267+51826G>A,MODIFIER,YES,,,-1;HBE1,intron_variant,,ENST00000380237,,c.-310+51826G>A,MODIFIER,,,,-1;HBG2,intron_variant,,ENST00000380252,,c.-74+51608G>A,MODIFIER,,,,-1;OR51B5,intron_variant,,ENST00000415970,,n.84+51826G>A,MODIFIER,,,,-1;OR51B5,intron_variant,,ENST00000420465,,n.45+51826G>A,MODIFIER,,,,-1;OR51B5,intron_variant,,ENST00000420726,,n.45+51826G>A,MODIFIER,,,,-1;AC104389.5,intron_variant,,ENST00000380259,,c.*740-107844G>A,MODIFIER,YES,,,-1;OR51B5,intron_variant,,ENST00000418729,,c.-360+51826G>A,MODIFIER,,,,-1","Allele":"T","Gene":"ENSG00000187918","Feature":"ENST00000341449","Feature_type":"Transcript","One_Consequence":"synonymous_variant","Consequence":"synonymous_variant","cDNA_position":"336/1070","CDS_position":"255/939","Protein_position":"85/312","Amino_acids":"F","Codons":"ttC/ttT","Existing_variation":"COSV58299486","TRANSCRIPT_STRAND":1,"SYMBOL":"OR51I2","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:15201","BIOTYPE":"protein_coding","CCDS":"CCDS31383.1","ENSP":"ENSP00000341987","SWISSPROT":"Q9H344.152","TREMBL":"A0A126GVE9.33","UNIPARC":"UPI0000041CD1","RefSeq":"NM_001004754.2","APPRIS":"P1","EXON":"1/1","DOMAINS":"Gene3D:1.20.1070.10;Pfam:PF13853;PROSITE_profiles:PS50262;PANTHER:PTHR26450;PANTHER:PTHR26450:SF112;SMART:SM01381;Superfamily:SSF81321;CDD:cd15222","SOMATIC":"1","IMPACT":"LOW","VARIANT_CLASS":"SNV","PHENO":"1","CONTEXT":"ACCTTCTGCCT","tumor_bam_uuid":"38a1dcd0-74de-41f8-bc11-90bd2a2d22d0","normal_bam_uuid":"f3cba758-7722-4e42-8c46-57add9a315aa","case_id":"1fc81cd4-fa89-4135-8c3c-027ffae82b05","COSMIC":"COSM1508687","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"88","Hugo_Symbol":"PDZRN3","Entrez_Gene_Id":23024,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr3","Start_Position":73383480,"End_Position":73383480,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"G","Tumor_Sample_Barcode":"TCGA-05-5425-01A-02D-1625-08","Matched_Norm_Sample_Barcode":"TCGA-05-5425-10A-01D-1625-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"70a3e96b-dd26-419c-9a68-97dea0465d6e","Matched_Norm_Sample_UUID":"6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b","HGVSc":"c.3086G>C","HGVSp":"p.Arg1029Thr","HGVSp_Short":"p.R1029T","Transcript_ID":"ENST00000263666","Exon_Number":"10/10","t_depth":252,"t_ref_count":236,"t_alt_count":16,"n_depth":260,"all_effects":"PDZRN3,missense_variant,p.R1029T,ENST00000263666,NM_015009.3,c.3086G>C,MODERATE,YES,deleterious(0),probably_damaging(0.985),-1;PDZRN3,missense_variant,p.R686T,ENST00000462146,NM_001303141.1,c.2057G>C,MODERATE,,deleterious(0),probably_damaging(0.985),-1;PDZRN3,missense_variant,p.R746T,ENST00000479530,NM_001303142.2,c.2237G>C,MODERATE,,deleterious(0),probably_damaging(0.994),-1;PDZRN3,missense_variant,p.R686T,ENST00000466780,NM_001303140.2,c.2057G>C,MODERATE,,deleterious(0),probably_damaging(0.985),-1;PDZRN3,missense_variant,p.R345T,ENST00000494559,,c.1034G>C,MODERATE,,deleterious(0),probably_damaging(0.996),-1;PDZRN3,downstream_gene_variant,,ENST00000492909,NM_001303139.1,,MODIFIER,,,,-1;PDZRN3,downstream_gene_variant,,ENST00000466348,,,MODIFIER,,,,-1;PDZRN3,downstream_gene_variant,,ENST00000478209,,,MODIFIER,,,,-1;PDZRN3,downstream_gene_variant,,ENST00000484487,,,MODIFIER,,,,-1","Allele":"G","Gene":"ENSG00000121440","Feature":"ENST00000263666","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"3202/4251","CDS_position":"3086/3201","Protein_position":"1029/1066","Amino_acids":"R/T","Codons":"aGg/aCg","Existing_variation":"COSV55216378;COSV99731800","TRANSCRIPT_STRAND":-1,"SYMBOL":"PDZRN3","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:17704","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS33789.1","ENSP":"ENSP00000263666","SWISSPROT":"Q9UPQ7.174","UNIPARC":"UPI00001C1DE6","UNIPROT_ISOFORM":"Q9UPQ7-1","RefSeq":"NM_015009.3","MANE":"NM_015009.3","APPRIS":"P1","SIFT":"deleterious(0)","PolyPhen":"probably_damaging(0.985)","EXON":"10/10","DOMAINS":"Low_complexity_(Seg):seg;PANTHER:PTHR15545;PANTHER:PTHR15545:SF5","SOMATIC":"1;1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1;1","CONTEXT":"TATTCCTCTTC","tumor_bam_uuid":"b0d8d301-7af1-4820-90bb-5fd481f5859f","normal_bam_uuid":"22fa4d1e-609f-42bb-97ae-d667a2031105","case_id":"9b4eeecb-6aff-435b-a244-ec362af92b7f","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2"}
{"X1":"570","Hugo_Symbol":"PGM5","Entrez_Gene_Id":5239,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr9","Start_Position":68391649,"End_Position":68391649,"Strand":"+","Variant_Classification":"Silent","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"C","Tumor_Sample_Barcode":"TCGA-05-4432-01A-01D-1265-08","Matched_Norm_Sample_Barcode":"TCGA-05-4432-10A-01D-1265-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e","Matched_Norm_Sample_UUID":"eb55c8bb-5d1b-4274-9e54-adba5cd91626","HGVSc":"c.813G>C","HGVSp":"p.Leu271=","HGVSp_Short":"p.L271=","Transcript_ID":"ENST00000396396","Exon_Number":"5/11","t_depth":116,"t_ref_count":98,"t_alt_count":18,"n_depth":116,"all_effects":"PGM5,synonymous_variant,p.L271=,ENST00000396396,NM_021965.4,c.813G>C,LOW,YES,,,1;PGM5,synonymous_variant,p.L271=,ENST00000396392,,c.813G>C,LOW,,,,1;PGM5,synonymous_variant,p.L188=,ENST00000431583,,c.564G>C,LOW,,,,1;PGM5,non_coding_transcript_exon_variant,,ENST00000604870,,n.1168G>C,MODIFIER,,,,1;PGM5,upstream_gene_variant,,ENST00000587852,,,MODIFIER,,,,1;AL161457.2,downstream_gene_variant,,ENST00000590767,,,MODIFIER,YES,,,-1;AL161457.2,downstream_gene_variant,,ENST00000629161,,,MODIFIER,,,,-1;AL161457.2,downstream_gene_variant,,ENST00000629181,,,MODIFIER,,,,-1","Allele":"C","Gene":"ENSG00000154330","Feature":"ENST00000396396","Feature_type":"Transcript","One_Consequence":"synonymous_variant","Consequence":"synonymous_variant","cDNA_position":"1330/3626","CDS_position":"813/1704","Protein_position":"271/567","Amino_acids":"L","Codons":"ctG/ctC","Existing_variation":"COSV67163817","TRANSCRIPT_STRAND":1,"SYMBOL":"PGM5","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:8908","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS6622.2","ENSP":"ENSP00000379678","SWISSPROT":"Q15124.165","UNIPARC":"UPI0000210ABF","UNIPROT_ISOFORM":"Q15124-1","RefSeq":"NM_021965.4","MANE":"NM_021965.4","APPRIS":"P1","EXON":"5/11","DOMAINS":"Gene3D:3.40.120.10;Pfam:PF02879;Prints:PR00509;PANTHER:PTHR22573;PANTHER:PTHR22573:SF27;Superfamily:SSF53738","SOMATIC":"1","IMPACT":"LOW","PICK":1,"VARIANT_CLASS":"SNV","TSL":2,"PHENO":"1","CONTEXT":"AACCTGACATA","tumor_bam_uuid":"e911237c-1b13-42c5-9419-0253d2ff3c9c","normal_bam_uuid":"578103b1-d026-4d92-805d-507e8e7aa7d2","case_id":"e737f650-b72d-44e7-b750-558a56716803","COSMIC":"COSM6115726","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"522","Hugo_Symbol":"XIRP2","Entrez_Gene_Id":129446,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr2","Start_Position":167210800,"End_Position":167210800,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"T","dbSNP_RS":"novel","Tumor_Sample_Barcode":"TCGA-17-Z049-01A-01W-0746-08","Matched_Norm_Sample_Barcode":"TCGA-17-Z049-11A-01W-0747-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"ac31bcc6-6ccc-43b7-96f2-3ab47050be76","Matched_Norm_Sample_UUID":"19f580ae-ea08-4615-b7ed-f6fdcbb35e4e","HGVSc":"c.103G>T","HGVSp":"p.Val35Leu","HGVSp_Short":"p.V35L","Transcript_ID":"ENST00000628543","Exon_Number":"2/9","t_depth":246,"t_ref_count":166,"t_alt_count":80,"n_depth":294,"all_effects":"XIRP2,missense_variant,p.V210L,ENST00000409195,NM_152381.6,c.628G>T,MODERATE,,tolerated(0.28),benign(0.003),1;XIRP2,missense_variant,p.V35L,ENST00000628543,,c.103G>T,MODERATE,,tolerated(0.33),benign(0),1;XIRP2,missense_variant,p.V243L,ENST00000409728,NM_001199143.1,c.727G>T,MODERATE,,tolerated(0.96),benign(0.003),1;XIRP2,missense_variant,p.V210L,ENST00000409043,NM_001079810.3,c.628G>T,MODERATE,,tolerated(0.64),benign(0.003),1;XIRP2,missense_variant,p.V218L,ENST00000672716,,c.652G>T,MODERATE,,tolerated(0.67),benign(0.01),1;XIRP2,5_prime_UTR_variant,,ENST00000409273,NM_001199144.2,c.-39G>T,MODIFIER,,,,1;XIRP2,5_prime_UTR_variant,,ENST00000672671,,c.-39G>T,MODIFIER,YES,,,1;XIRP2,5_prime_UTR_variant,,ENST00000409605,NM_001199145.2,c.-39G>T,MODIFIER,,,,1;XIRP2,non_coding_transcript_exon_variant,,ENST00000672277,,n.184G>T,MODIFIER,,,,1","Allele":"T","Gene":"ENSG00000163092","Feature":"ENST00000628543","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"228/12182","CDS_position":"103/10125","Protein_position":"35/3374","Amino_acids":"V/L","Codons":"Gtg/Ttg","TRANSCRIPT_STRAND":1,"SYMBOL":"XIRP2","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:14303","BIOTYPE":"protein_coding","ENSP":"ENSP00000486198","SWISSPROT":"A4UGR9.109","UNIPARC":"UPI000163AC97","UNIPROT_ISOFORM":"A4UGR9-1","SIFT":"tolerated(0.33)","PolyPhen":"benign(0)","EXON":"2/9","IMPACT":"MODERATE","VARIANT_CLASS":"SNV","TSL":5,"CONTEXT":"AGGGTGTGTCA","tumor_bam_uuid":"78b0fd7a-c1d7-4fda-aecd-c52565aca381","normal_bam_uuid":"bbefa7cb-0db1-4d9f-b78e-41e8f8e19d3d","case_id":"d6a08727-affd-4a59-837b-ea71741d7f09","hotspot":"N","RNA_Support":"Unknown","callers":"muse;varscan2"}
{"X1":"399","Hugo_Symbol":"ST6GALNAC5","Entrez_Gene_Id":81849,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr1","Start_Position":77044345,"End_Position":77044345,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"A","dbSNP_RS":"rs759920866","Tumor_Sample_Barcode":"TCGA-50-5068-01A-01D-1625-08","Matched_Norm_Sample_Barcode":"TCGA-50-5068-10A-01D-1625-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4","Matched_Norm_Sample_UUID":"c2c22c1c-6411-423f-8e81-819f49e60803","HGVSc":"c.403G>A","HGVSp":"p.Val135Met","HGVSp_Short":"p.V135M","Transcript_ID":"ENST00000477717","Exon_Number":"3/5","t_depth":83,"t_ref_count":68,"t_alt_count":14,"n_depth":72,"all_effects":"ST6GALNAC5,missense_variant,p.V135M,ENST00000477717,NM_030965.3&NM_001320273.2,c.403G>A,MODERATE,YES,,probably_damaging(0.999),1;ST6GALNAC5,non_coding_transcript_exon_variant,,ENST00000488940,,n.206G>A,MODIFIER,,,,1;ST6GALNAC5,missense_variant,p.V135M,ENST00000318803,,c.403G>A,MODERATE,,,probably_damaging(0.999),1","Allele":"A","Gene":"ENSG00000117069","Feature":"ENST00000477717","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"599/5547","CDS_position":"403/1011","Protein_position":"135/336","Amino_acids":"V/M","Codons":"Gtg/Atg","Existing_variation":"rs759920866;COSV100603118","TRANSCRIPT_STRAND":1,"SYMBOL":"ST6GALNAC5","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:19342","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS673.1","ENSP":"ENSP00000417583","SWISSPROT":"Q9BVH7.152","UNIPARC":"UPI0000001C9F","RefSeq":"NM_030965.3;NM_001320273.2","MANE":"NM_030965.3","APPRIS":"P1","PolyPhen":"probably_damaging(0.999)","EXON":"3/5","DOMAINS":"PANTHER:PTHR45906;PANTHER:PTHR45906:SF5;Pfam:PF00777;Gene3D:3.90.1480.20;PIRSF:PIRSF005557","gnomAD_AF":"3.982e-06","gnomAD_AFR_AF":"0","gnomAD_AMR_AF":"0","gnomAD_ASJ_AF":"0","gnomAD_EAS_AF":"0","gnomAD_FIN_AF":"0","gnomAD_NFE_AF":"8.81e-06","gnomAD_OTH_AF":"0","gnomAD_SAS_AF":"0","MAX_AF":"8.81e-06","MAX_AF_POPS":"gnomAD_NFE","gnomAD_non_cancer_AF":"1.3523699635698e-05","gnomAD_non_cancer_AFR_AF":"0","gnomAD_non_cancer_AMI_AF":"0","gnomAD_non_cancer_AMR_AF":"0","gnomAD_non_cancer_ASJ_AF":"0","gnomAD_non_cancer_EAS_AF":"0","gnomAD_non_cancer_FIN_AF":"0","gnomAD_non_cancer_MID_AF":"0","gnomAD_non_cancer_NFE_AF":"1.54306999320397e-05","gnomAD_non_cancer_OTH_AF":"0.00049504998605698","gnomAD_non_cancer_SAS_AF":"0","SOMATIC":"0;1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"0;1","CONTEXT":"GTGACGTGGGC","tumor_bam_uuid":"bd32e1cf-56b1-40b1-a846-dbf4d28bd69c","normal_bam_uuid":"81ee62fd-67e7-49ed-ba9c-f13cde19c479","case_id":"591c068f-bbb1-4df2-9abb-d1a2e4a58372","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"272","Hugo_Symbol":"FANCM","Entrez_Gene_Id":57697,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr14","Start_Position":45176535,"End_Position":45176535,"Strand":"+","Variant_Classification":"Nonsense_Mutation","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"T","Tumor_Sample_Barcode":"TCGA-73-A9RS-01A-11D-A410-08","Matched_Norm_Sample_Barcode":"TCGA-73-A9RS-10A-01D-A413-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"7c89393e-6976-44d5-896d-5648b0d092f4","Matched_Norm_Sample_UUID":"3ad125f9-b7cc-4814-b1e8-983a26dcd72c","HGVSc":"c.3781G>T","HGVSp":"p.Gly1261Ter","HGVSp_Short":"p.G1261*","Transcript_ID":"ENST00000267430","Exon_Number":"14/23","t_depth":73,"t_ref_count":62,"t_alt_count":10,"n_depth":51,"all_effects":"FANCM,stop_gained,p.G1261*,ENST00000267430,NM_020937.4,c.3781G>T,HIGH,YES,,,1;FANCM,stop_gained,p.G1235*,ENST00000542564,NM_001308133.2,c.3703G>T,HIGH,,,,1;FANCM,stop_gained,p.G777*,ENST00000556250,,c.2329G>T,HIGH,,,,1;FANCM,stop_gained,p.G194*,ENST00000554809,,c.580G>T,HIGH,,,,1;FANCM,upstream_gene_variant,,ENST00000555013,,,MODIFIER,,,,1","Allele":"T","Gene":"ENSG00000187790","Feature":"ENST00000267430","Feature_type":"Transcript","One_Consequence":"stop_gained","Consequence":"stop_gained","cDNA_position":"3883/7131","CDS_position":"3781/6147","Protein_position":"1261/2048","Amino_acids":"G/*","Codons":"Gga/Tga","Existing_variation":"COSV99951832","TRANSCRIPT_STRAND":1,"SYMBOL":"FANCM","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:23168","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS32070.1","ENSP":"ENSP00000267430","SWISSPROT":"Q8IYD8.162","UNIPARC":"UPI000059F032","UNIPROT_ISOFORM":"Q8IYD8-1","RefSeq":"NM_020937.4","MANE":"NM_020937.4","APPRIS":"P1","EXON":"14/23","DOMAINS":"PANTHER:PTHR14074;PANTHER:PTHR14074:SF33","SOMATIC":"1","IMPACT":"HIGH","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","GENE_PHENO":"1","CONTEXT":"TATATGGAAGG","tumor_bam_uuid":"2ebbaf59-2d2d-46d9-a3b1-9926c4d982ab","normal_bam_uuid":"9a730bc0-3aa1-496a-8c7a-cc6f3d4320b6","case_id":"2a394996-809f-459f-a647-d209921ccbd2","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"159","Hugo_Symbol":"PSKH2","Entrez_Gene_Id":85481,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr8","Start_Position":86069519,"End_Position":86069519,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"G","dbSNP_RS":"rs567670091","Tumor_Sample_Barcode":"TCGA-95-7043-01A-11D-1945-08","Matched_Norm_Sample_Barcode":"TCGA-95-7043-10A-01D-1946-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"86040fdc-caa7-4c13-af9c-c3f78b79930f","Matched_Norm_Sample_UUID":"7a16b2f7-cb45-4f60-a779-4455e89b1f1e","HGVSc":"c.104G>C","HGVSp":"p.Gly35Ala","HGVSp_Short":"p.G35A","Transcript_ID":"ENST00000276616","Exon_Number":"1/3","t_depth":20,"t_ref_count":6,"t_alt_count":14,"n_depth":16,"all_effects":"PSKH2,missense_variant,p.G35A,ENST00000276616,NM_033126.3,c.104G>C,MODERATE,YES,tolerated(0.27),benign(0.19),-1;ATP6V0D2,intron_variant,,ENST00000521564,,c.-170+3039C>G,MODIFIER,,,,1;ATP6V0D2,upstream_gene_variant,,ENST00000523635,,,MODIFIER,,,,1;PSKH2,intron_variant,,ENST00000517981,,n.168+4597G>C,MODIFIER,,,,-1;PSKH2,intron_variant,,ENST00000523010,,n.228+4597G>C,MODIFIER,,,,-1","Allele":"G","Gene":"ENSG00000147613","Feature":"ENST00000276616","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"150/2557","CDS_position":"104/1158","Protein_position":"35/385","Amino_acids":"G/A","Codons":"gGg/gCg","Existing_variation":"rs567670091;COSV52610382","TRANSCRIPT_STRAND":-1,"SYMBOL":"PSKH2","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:18997","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS6240.1","ENSP":"ENSP00000276616","SWISSPROT":"Q96QS6.147","UNIPARC":"UPI000006F951","RefSeq":"NM_033126.3","MANE":"NM_033126.3","APPRIS":"P1","SIFT":"tolerated(0.27)","PolyPhen":"benign(0.19)","EXON":"1/3","DOMAINS":"PANTHER:PTHR24347;PANTHER:PTHR24347:SF255;Low_complexity_(Seg):seg","1000G_AF":"2e-04","1000G_AFR_AF":"0","1000G_AMR_AF":"0","1000G_EAS_AF":"0","1000G_EUR_AF":"0","1000G_SAS_AF":"0.001","gnomAD_AF":"8.877e-06","gnomAD_AFR_AF":"0","gnomAD_AMR_AF":"0","gnomAD_ASJ_AF":"0","gnomAD_EAS_AF":"0","gnomAD_FIN_AF":"0","gnomAD_NFE_AF":"0","gnomAD_OTH_AF":"0","gnomAD_SAS_AF":"6.701e-05","MAX_AF":"0.001","MAX_AF_POPS":"SAS","gnomAD_non_cancer_AF":"6.76113995723426e-06","gnomAD_non_cancer_AFR_AF":"0","gnomAD_non_cancer_AMI_AF":"0","gnomAD_non_cancer_AMR_AF":"0","gnomAD_non_cancer_ASJ_AF":"0","gnomAD_non_cancer_EAS_AF":"0","gnomAD_non_cancer_FIN_AF":"0","gnomAD_non_cancer_MID_AF":"0","gnomAD_non_cancer_NFE_AF":"0","gnomAD_non_cancer_OTH_AF":"0","gnomAD_non_cancer_SAS_AF":"0.00020850700093433","SOMATIC":"0;1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"0;1","CONTEXT":"CGGGCCCAGGC","tumor_bam_uuid":"c903dfd7-c694-4941-880a-9d82737f919e","normal_bam_uuid":"08cc6968-549a-44e2-9ae2-394b37ed8b27","case_id":"c650b1ff-8a4c-4ee9-b7c1-268c28c83827","COSMIC":"COSM6181885","hotspot":"N","RNA_Support":"Unknown","callers":"muse;varscan2"}
{"X1":"116","Hugo_Symbol":"APBB1IP","Entrez_Gene_Id":54518,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr10","Start_Position":26511842,"End_Position":26511842,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"T","dbSNP_RS":"novel","Tumor_Sample_Barcode":"TCGA-17-Z051-01A-01W-0747-08","Matched_Norm_Sample_Barcode":"TCGA-17-Z051-11A-01W-0747-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"5584878f-0608-45d9-8e28-29c277bf655f","Matched_Norm_Sample_UUID":"a1da7605-ca70-4b1a-8d30-c95650bcfa52","HGVSc":"c.627G>T","HGVSp":"p.Glu209Asp","HGVSp_Short":"p.E209D","Transcript_ID":"ENST00000376236","Exon_Number":"7/15","t_depth":138,"t_ref_count":106,"t_alt_count":32,"n_depth":180,"all_effects":"APBB1IP,missense_variant,p.E209D,ENST00000376236,NM_019043.4,c.627G>T,MODERATE,YES,tolerated(0.54),possibly_damaging(0.732),1;RNA5SP307,downstream_gene_variant,,ENST00000362863,,,MODIFIER,YES,,,1","Allele":"T","Gene":"ENSG00000077420","Feature":"ENST00000376236","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"944/2633","CDS_position":"627/2001","Protein_position":"209/666","Amino_acids":"E/D","Codons":"gaG/gaT","TRANSCRIPT_STRAND":1,"SYMBOL":"APBB1IP","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:17379","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS31167.1","ENSP":"ENSP00000365411","SWISSPROT":"Q7Z5R6.146","UNIPARC":"UPI00001AF165","UNIPROT_ISOFORM":"Q7Z5R6-1","RefSeq":"NM_019043.4","MANE":"NM_019043.4","APPRIS":"P1","SIFT":"tolerated(0.54)","PolyPhen":"possibly_damaging(0.732)","EXON":"7/15","DOMAINS":"PROSITE_profiles:PS50200;CDD:cd16137;PANTHER:PTHR11243;PANTHER:PTHR11243:SF14;Pfam:PF00788;Gene3D:3.10.20.90;SMART:SM00314;Superfamily:SSF54236","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":5,"CONTEXT":"TTCGAGAAAAC","tumor_bam_uuid":"2a8cde23-f234-433f-ac41-1d87428c7543","normal_bam_uuid":"ce8cf13e-2ee4-4b2c-9664-752e56248281","case_id":"a8f3da11-890c-4fff-bfc5-d99357dc4e46","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"366","Hugo_Symbol":"LINC02872","Entrez_Gene_Id":401535,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr9","Start_Position":87148863,"End_Position":87148863,"Strand":"+","Variant_Classification":"RNA","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-44-7669-01A-21D-2063-08","Matched_Norm_Sample_Barcode":"TCGA-44-7669-10A-01D-2063-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"9d19ad71-e908-4847-8b5f-c76c63216b53","Matched_Norm_Sample_UUID":"94563be5-dde7-4c55-bc6e-14f2a1243839","HGVSc":"n.220G>A","Transcript_ID":"ENST00000623052","Exon_Number":"1/2","t_depth":37,"t_ref_count":23,"t_alt_count":14,"n_depth":55,"all_effects":"LINC02872,non_coding_transcript_exon_variant,,ENST00000623052,,n.220G>A,MODIFIER,YES,,,1","Allele":"A","Gene":"ENSG00000204446","Feature":"ENST00000623052","Feature_type":"Transcript","One_Consequence":"non_coding_transcript_exon_variant","Consequence":"non_coding_transcript_exon_variant","cDNA_position":"220/3239","TRANSCRIPT_STRAND":1,"SYMBOL":"LINC02872","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:33817","BIOTYPE":"lncRNA","CANONICAL":"YES","EXON":"1/2","IMPACT":"MODIFIER","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"CONTEXT":"GCCTGGCCTCC","tumor_bam_uuid":"d24a6a7f-5a93-4c1b-bdfe-561d67f77de3","normal_bam_uuid":"89db580c-6dbe-4e42-8360-df6e84c7d134","case_id":"4b22ad71-c585-4077-ad3c-c6e026d0c7fa","COSMIC":"COSM4960765","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"300","Hugo_Symbol":"GRIN2A","Entrez_Gene_Id":2903,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr16","Start_Position":9822265,"End_Position":9822265,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-05-5423-01A-01D-1625-08","Matched_Norm_Sample_Barcode":"TCGA-05-5423-10A-01D-1625-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"209d853d-6c50-4223-a572-a90d58aee51e","Matched_Norm_Sample_UUID":"6452e130-5262-4556-b762-a7c3b4e53f74","HGVSc":"c.2167G>T","HGVSp":"p.Gly723Trp","HGVSp_Short":"p.G723W","Transcript_ID":"ENST00000330684","Exon_Number":"10/13","t_depth":118,"t_ref_count":62,"t_alt_count":56,"n_depth":62,"all_effects":"GRIN2A,missense_variant,p.G723W,ENST00000330684,NM_001134407.3,c.2167G>T,MODERATE,YES,deleterious(0),probably_damaging(1),-1;GRIN2A,missense_variant,p.G723W,ENST00000396573,NM_000833.5,c.2167G>T,MODERATE,,deleterious(0),probably_damaging(1),-1;GRIN2A,missense_variant,p.G566W,ENST00000674742,,c.1696G>T,MODERATE,,deleterious(0),probably_damaging(1),-1;GRIN2A,missense_variant,p.G566W,ENST00000535259,,c.1696G>T,MODERATE,,deleterious(0),probably_damaging(1),-1;GRIN2A,missense_variant,p.G723W,ENST00000675398,,c.2167G>T,MODERATE,,deleterious(0),probably_damaging(1),-1;GRIN2A,missense_variant,p.G723W,ENST00000562109,NM_001134408.2,c.2167G>T,MODERATE,,deleterious(0),probably_damaging(1),-1;GRIN2A,splice_region_variant,,ENST00000461292,,n.1806G>T,LOW,,,,-1;GRIN2A,splice_region_variant,,ENST00000636273,,n.1760G>T,LOW,,,,-1","Allele":"A","Gene":"ENSG00000183454","Feature":"ENST00000330684","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant;splice_region_variant","cDNA_position":"2737/14706","CDS_position":"2167/4395","Protein_position":"723/1464","Amino_acids":"G/W","Codons":"Ggg/Tgg","Existing_variation":"COSV58050926","TRANSCRIPT_STRAND":-1,"SYMBOL":"GRIN2A","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:4585","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS10539.1","ENSP":"ENSP00000332549","SWISSPROT":"Q12879.209","TREMBL":"Q547U9.140","UNIPARC":"UPI000000D7AB","UNIPROT_ISOFORM":"Q12879-1","RefSeq":"NM_001134407.3","MANE":"NM_001134407.3","APPRIS":"P1","SIFT":"deleterious(0)","PolyPhen":"probably_damaging(1)","EXON":"10/13","DOMAINS":"Gene3D:1.10.287.70;Gene3D:3.40.190.10;Gene3D:3.40.190.10;PDB-ENSP_mappings:5h8f.A;PDB-ENSP_mappings:5h8h.A;PDB-ENSP_mappings:5h8n.A;PDB-ENSP_mappings:5h8q.A;PDB-ENSP_mappings:5i2k.A;PDB-ENSP_mappings:5i2n.A;PDB-ENSP_mappings:5kcj.A;PDB-ENSP_mappings:5kdt.A;PDB-ENSP_mappings:5tp9.A;PDB-ENSP_mappings:5tpa.A;PDB-ENSP_mappings:6ira.B;PDB-ENSP_mappings:6ira.D;PDB-ENSP_mappings:6irf.B;PDB-ENSP_mappings:6irf.D;PDB-ENSP_mappings:6irg.B;PDB-ENSP_mappings:6irg.D;PDB-ENSP_mappings:6irh.B;PDB-ENSP_mappings:6irh.D;Pfam:PF00060;PANTHER:PTHR18966;PANTHER:PTHR18966:SF407;SMART:SM00079;Superfamily:SSF53850;CDD:cd13718","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","GENE_PHENO":"1","CONTEXT":"TTACCCCGTTT","tumor_bam_uuid":"f35ed53b-0b05-4f5c-aa5d-39fb1327ee59","normal_bam_uuid":"5b88514d-ccb2-4187-a897-c8175c4aa473","case_id":"33e3f736-7990-4f7a-ac35-863247566541","COSMIC":"COSM6080231","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"28","Hugo_Symbol":"DSE","Entrez_Gene_Id":29940,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr6","Start_Position":116436014,"End_Position":116436014,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"T","Tumor_Sample_Barcode":"TCGA-NJ-A4YG-01A-22D-A25L-08","Matched_Norm_Sample_Barcode":"TCGA-NJ-A4YG-10A-01D-A25L-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"9ce15b23-51ad-435a-9027-0e506747c78d","Matched_Norm_Sample_UUID":"b1f07dc8-de6e-40ba-b50c-2ada419e3731","HGVSc":"c.1546G>T","HGVSp":"p.Asp516Tyr","HGVSp_Short":"p.D516Y","Transcript_ID":"ENST00000331677","Exon_Number":"7/7","t_depth":70,"t_ref_count":59,"t_alt_count":11,"n_depth":81,"all_effects":"DSE,missense_variant,p.D516Y,ENST00000644252,NM_001322937.2&NM_001322940.2&NM_001322938.2&NM_001322939.2&NM_013352.4&NM_001322941.2,c.1546G>T,MODERATE,YES,deleterious(0.02),possibly_damaging(0.66),1;DSE,missense_variant,p.D516Y,ENST00000452085,NM_001080976.3,c.1546G>T,MODERATE,,deleterious(0.02),possibly_damaging(0.66),1;DSE,missense_variant,p.D516Y,ENST00000331677,,c.1546G>T,MODERATE,,deleterious(0.02),possibly_damaging(0.66),1;DSE,3_prime_UTR_variant,,ENST00000359564,NM_001374522.1&NM_001322944.2,c.*411G>T,MODIFIER,,,,1;DSE,3_prime_UTR_variant,,ENST00000646710,NM_001322943.2,c.*411G>T,MODIFIER,,,,1;Z84488.1,intron_variant,,ENST00000644499,,c.766+4821G>T,MODIFIER,YES,,,1;DSE,downstream_gene_variant,,ENST00000647244,NM_001374521.1,,MODIFIER,,,,1;DSE,non_coding_transcript_exon_variant,,ENST00000606712,,n.1450G>T,MODIFIER,,,,1","Allele":"T","Gene":"ENSG00000111817","Feature":"ENST00000331677","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"1990/7237","CDS_position":"1546/2877","Protein_position":"516/958","Amino_acids":"D/Y","Codons":"Gac/Tac","Existing_variation":"COSV100528705;COSV59063270","TRANSCRIPT_STRAND":1,"SYMBOL":"DSE","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:21144","BIOTYPE":"protein_coding","CCDS":"CCDS5107.1","ENSP":"ENSP00000332151","SWISSPROT":"Q9UL01.148","UNIPARC":"UPI0000073CB8","APPRIS":"P1","SIFT":"deleterious(0.02)","PolyPhen":"possibly_damaging(0.66)","EXON":"7/7","DOMAINS":"PDB-ENSP_mappings:6hzn.A;PANTHER:PTHR15532:SF3;PANTHER:PTHR15532;Gene3D:2.70.98.70","SOMATIC":"1;1","IMPACT":"MODERATE","VARIANT_CLASS":"SNV","TSL":5,"PHENO":"1;1","GENE_PHENO":"1","CONTEXT":"AGCATGACCTG","tumor_bam_uuid":"bfa803a6-4d37-4c04-b698-08e88a429a9a","normal_bam_uuid":"fcbc8ed0-2bcb-44e6-bedd-e80225ee87f5","case_id":"7fd03220-531e-4ef8-beca-e9703e8c0ae1","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"141","Hugo_Symbol":"CNTNAP5","Entrez_Gene_Id":129684,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr2","Start_Position":124434492,"End_Position":124434492,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"T","Tumor_Sample_Barcode":"TCGA-55-8508-01A-11D-2393-08","Matched_Norm_Sample_Barcode":"TCGA-55-8508-10A-01D-2393-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"edfe3212-890a-41b8-9cc4-c19ed953df62","Matched_Norm_Sample_UUID":"589f3819-1d2a-4a9d-8699-e4d6e78eb426","HGVSc":"c.538G>T","HGVSp":"p.Val180Phe","HGVSp_Short":"p.V180F","Transcript_ID":"ENST00000431078","Exon_Number":"5/24","t_depth":98,"t_ref_count":76,"t_alt_count":22,"n_depth":130,"all_effects":"CNTNAP5,missense_variant,p.V180F,ENST00000431078,NM_001367498.1&NM_130773.4,c.538G>T,MODERATE,YES,deleterious(0.01),benign(0.231),1","Allele":"T","Gene":"ENSG00000155052","Feature":"ENST00000431078","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"902/5284","CDS_position":"538/3921","Protein_position":"180/1306","Amino_acids":"V/F","Codons":"Gtt/Ttt","Existing_variation":"COSV101443070","TRANSCRIPT_STRAND":1,"SYMBOL":"CNTNAP5","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:18748","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS46401.1","ENSP":"ENSP00000399013","SWISSPROT":"Q8WYK1.128","UNIPARC":"UPI0000071988","RefSeq":"NM_001367498.1;NM_130773.4","APPRIS":"P1","SIFT":"deleterious(0.01)","PolyPhen":"benign(0.231)","EXON":"5/24","DOMAINS":"PROSITE_profiles:PS50025;CDD:cd00110;PANTHER:PTHR15036;PANTHER:PTHR15036:SF37;Gene3D:2.60.120.200;Superfamily:SSF49899","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","CONTEXT":"CAGATGTTGCT","tumor_bam_uuid":"352d97ec-bc02-492f-9929-721b418b69ec","normal_bam_uuid":"bd724a60-fd9a-4fad-9748-8cda3a818e0a","case_id":"bab335f9-b241-41a7-b107-79b9676b37b8","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"85","Hugo_Symbol":"OR4A47","Entrez_Gene_Id":403253,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr11","Start_Position":48489099,"End_Position":48489099,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-55-8203-01A-11D-2238-08","Matched_Norm_Sample_Barcode":"TCGA-55-8203-10A-01D-2238-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"9c45b38b-d33c-48cb-98f0-701bb0c76520","Matched_Norm_Sample_UUID":"07e3f6f8-8e0e-468d-8c38-a8201e0c5474","HGVSc":"c.307C>A","HGVSp":"p.His103Asn","HGVSp_Short":"p.H103N","Transcript_ID":"ENST00000446524","Exon_Number":"1/1","t_depth":133,"t_ref_count":92,"t_alt_count":41,"n_depth":82,"all_effects":"OR4A47,missense_variant,p.H103N,ENST00000446524,NM_001005512.2,c.307C>A,MODERATE,YES,deleterious_low_confidence(0.01),probably_damaging(0.995),1;OR4R1P,upstream_gene_variant,,ENST00000529879,,,MODIFIER,YES,,,-1;OR4A48P,upstream_gene_variant,,ENST00000531359,,,MODIFIER,YES,,,1","Allele":"A","Gene":"ENSG00000237388","Feature":"ENST00000446524","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"383/1064","CDS_position":"307/930","Protein_position":"103/309","Amino_acids":"H/N","Codons":"Cac/Aac","Existing_variation":"COSV101487083","TRANSCRIPT_STRAND":1,"SYMBOL":"OR4A47","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:31266","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS31490.1","ENSP":"ENSP00000412752","SWISSPROT":"Q6IF82.125","UNIPARC":"UPI00001971E5","RefSeq":"NM_001005512.2","APPRIS":"P1","SIFT":"deleterious_low_confidence(0.01)","PolyPhen":"probably_damaging(0.995)","EXON":"1/1","DOMAINS":"Gene3D:1.20.1070.10;Pfam:PF13853;Prints:PR00237;PROSITE_profiles:PS50262;PANTHER:PTHR26451;PANTHER:PTHR26451:SF922;Superfamily:SSF81321;CDD:cd15939","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","PHENO":"1","CONTEXT":"TCGAGCACATT","tumor_bam_uuid":"db624db0-e746-4673-a9d3-77e6d90553ae","normal_bam_uuid":"e2ae6206-4dba-4111-969a-9466048eddc8","case_id":"9a9bd705-1ef1-4a6c-bb1e-bdd346dc01c0","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"183","Hugo_Symbol":"EPHX1","Entrez_Gene_Id":2052,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr1","Start_Position":225844529,"End_Position":225844529,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"A","dbSNP_RS":"rs556212945","Tumor_Sample_Barcode":"TCGA-17-Z023-01A-01W-0746-08","Matched_Norm_Sample_Barcode":"TCGA-17-Z023-11A-01W-0746-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"bd72330a-463f-471b-9eba-2f188524e74c","Matched_Norm_Sample_UUID":"5b2bc510-42db-4afa-bce0-c0aee8ef9c00","HGVSc":"c.1072G>A","HGVSp":"p.Val358Ile","HGVSp_Short":"p.V358I","Transcript_ID":"ENST00000272167","Exon_Number":"8/9","t_depth":79,"t_ref_count":56,"t_alt_count":22,"n_depth":54,"all_effects":"EPHX1,missense_variant,p.V358I,ENST00000614058,NM_001291163.2&NM_001378426.1,c.1072G>A,MODERATE,YES,tolerated(0.42),benign(0.078),1;EPHX1,missense_variant,p.V358I,ENST00000366837,NM_001378427.1&NM_000120.4&NM_001378430.1&NM_001378428.1,c.1072G>A,MODERATE,,tolerated(0.42),benign(0.078),1;EPHX1,missense_variant,p.V358I,ENST00000272167,NM_001136018.4&NM_001378429.1&NM_001378431.1&NM_001378432.1,c.1072G>A,MODERATE,,tolerated(0.42),benign(0.078),1;TMEM63A,downstream_gene_variant,,ENST00000366835,NM_014698.3,,MODIFIER,YES,,,-1;TMEM63A,downstream_gene_variant,,ENST00000482753,,,MODIFIER,,,,-1;TMEM63A,downstream_gene_variant,,ENST00000496025,,,MODIFIER,,,,-1;AL591895.1,intron_variant,,ENST00000424332,,n.43+1951C>T,MODIFIER,YES,,,-1","Allele":"A","Gene":"ENSG00000143819","Feature":"ENST00000272167","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"1152/1660","CDS_position":"1072/1368","Protein_position":"358/455","Amino_acids":"V/I","Codons":"Gtc/Atc","Existing_variation":"rs556212945;COSV55300896","TRANSCRIPT_STRAND":1,"SYMBOL":"EPHX1","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:3401","BIOTYPE":"protein_coding","CCDS":"CCDS1547.1","ENSP":"ENSP00000272167","SWISSPROT":"P07099.199","TREMBL":"R4SBI6.61","UNIPARC":"UPI000012CFF2","RefSeq":"NM_001136018.4;NM_001378429.1;NM_001378431.1;NM_001378432.1","APPRIS":"P1","SIFT":"tolerated(0.42)","PolyPhen":"benign(0.078)","EXON":"8/9","DOMAINS":"Gene3D:3.40.50.1820;Pfam:PF00561;PIRSF:PIRSF001112;PANTHER:PTHR21661;PANTHER:PTHR21661:SF69;Superfamily:SSF53474","gnomAD_AF":"3.181e-05","gnomAD_AFR_AF":"0","gnomAD_AMR_AF":"0","gnomAD_ASJ_AF":"0","gnomAD_EAS_AF":"0","gnomAD_FIN_AF":"0.000231","gnomAD_NFE_AF":"2.637e-05","gnomAD_OTH_AF":"0","gnomAD_SAS_AF":"0","MAX_AF":"0.000231","MAX_AF_POPS":"gnomAD_FIN","gnomAD_non_cancer_AF":"4.73286017950159e-05","gnomAD_non_cancer_AFR_AF":"0","gnomAD_non_cancer_AMI_AF":"0","gnomAD_non_cancer_AMR_AF":"0","gnomAD_non_cancer_ASJ_AF":"0","gnomAD_non_cancer_EAS_AF":"0","gnomAD_non_cancer_FIN_AF":"0.00037700298707932","gnomAD_non_cancer_MID_AF":"0","gnomAD_non_cancer_NFE_AF":"4.63020005554426e-05","gnomAD_non_cancer_OTH_AF":"0","gnomAD_non_cancer_SAS_AF":"0","gnomAD_non_cancer_MAX_AF_adj":"0.00037700298707932","gnomAD_non_cancer_MAX_AF_POPS_adj":"fin","SOMATIC":"0;1","IMPACT":"MODERATE","VARIANT_CLASS":"SNV","TSL":1,"PHENO":"0;1","GENE_PHENO":"1","CONTEXT":"CCAACGTCATG","tumor_bam_uuid":"439b3899-9828-48b3-be36-31dd2805f870","normal_bam_uuid":"f4dfcb05-c1c9-452c-878b-6ff7bc59e723","case_id":"cf411fc0-0cce-42d2-ae79-24de1a105c05","COSMIC":"COSM3804088","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2"}
{"X1":"120","Hugo_Symbol":"NOTCH4","Entrez_Gene_Id":4855,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr6","Start_Position":32220827,"End_Position":32220827,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"T","Tumor_Seq_Allele1":"T","Tumor_Seq_Allele2":"C","Tumor_Sample_Barcode":"TCGA-44-7662-01A-11D-2063-08","Matched_Norm_Sample_Barcode":"TCGA-44-7662-10A-01D-2063-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"c35f0ace-0012-4ad4-90de-617f5d764f42","Matched_Norm_Sample_UUID":"c322f1e3-cf36-4f3a-9dca-18ec91ff9136","HGVSc":"c.851A>G","HGVSp":"p.Gln284Arg","HGVSp_Short":"p.Q284R","Transcript_ID":"ENST00000375023","Exon_Number":"5/30","t_depth":143,"t_ref_count":128,"t_alt_count":15,"n_depth":147,"all_effects":"NOTCH4,missense_variant,p.Q284R,ENST00000375023,NM_004557.4,c.851A>G,MODERATE,YES,tolerated(0.19),benign(0.001),-1;NOTCH4,non_coding_transcript_exon_variant,,ENST00000473562,,n.980A>G,MODIFIER,,,,-1","Allele":"C","Gene":"ENSG00000204301","Feature":"ENST00000375023","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"990/6745","CDS_position":"851/6012","Protein_position":"284/2003","Amino_acids":"Q/R","Codons":"cAg/cGg","Existing_variation":"COSV66680302","TRANSCRIPT_STRAND":-1,"SYMBOL":"NOTCH4","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:7884","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS34420.1","ENSP":"ENSP00000364163","SWISSPROT":"Q99466.210","TREMBL":"A0A1U9X983.22","UNIPARC":"UPI0000130571","UNIPROT_ISOFORM":"Q99466-1","RefSeq":"NM_004557.4","MANE":"NM_004557.4","APPRIS":"P1","SIFT":"tolerated(0.19)","PolyPhen":"benign(0.001)","EXON":"5/30","DOMAINS":"Gene3D:2.10.25.10;Pfam:PF00008;PIRSF:PIRSF002279;PROSITE_profiles:PS50026;PANTHER:PTHR24044;PANTHER:PTHR24044:SF450;SMART:SM00179;SMART:SM00181;Superfamily:SSF57196;CDD:cd00054","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","CONTEXT":"GACACTGGTGG","tumor_bam_uuid":"61afaf41-0028-4e83-8ad7-afb8883c218a","normal_bam_uuid":"daad1c14-5069-43b0-b735-737fed408d52","case_id":"ab9e6815-4d13-44db-93e5-553eb4f5bc95","COSMIC":"COSM6173851","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"390","Hugo_Symbol":"PNLIPRP2","Entrez_Gene_Id":5408,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr10","Start_Position":116626903,"End_Position":116626903,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"T","dbSNP_RS":"rs1554868919","Tumor_Sample_Barcode":"TCGA-L9-A7SV-01A-11D-A397-08","Matched_Norm_Sample_Barcode":"TCGA-L9-A7SV-10A-01D-A39A-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"d78a7316-187d-4fbd-9ea5-5b5d94569b5a","Matched_Norm_Sample_UUID":"a8d3d6c2-487c-4d5c-a93e-49d2b40c5b48","HGVSc":"c.370G>T","HGVSp":"p.Asp124Tyr","HGVSp_Short":"p.D124Y","Transcript_ID":"ENST00000611850","Exon_Number":"4/13","t_depth":21,"t_ref_count":15,"t_alt_count":6,"n_depth":21,"all_effects":"PNLIPRP2,missense_variant,p.D124Y,ENST00000591655,,c.370G>T,MODERATE,YES,deleterious(0),probably_damaging(1),1;PNLIPRP2,missense_variant,p.D124Y,ENST00000611850,,c.370G>T,MODERATE,,deleterious(0),probably_damaging(1),1;PNLIPRP2,non_coding_transcript_exon_variant,,ENST00000586762,,n.468G>T,MODIFIER,,,,1;PNLIPRP2,intron_variant,,ENST00000588823,,n.204+2804G>T,MODIFIER,,,,1;PNLIPRP2,missense_variant,p.D124Y,ENST00000579578,NM_005396.5,c.370G>T,MODERATE,,deleterious(0),probably_damaging(1),1","Allele":"T","Gene":"ENSG00000266200","Feature":"ENST00000611850","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"370/1407","CDS_position":"370/1407","Protein_position":"124/468","Amino_acids":"D/Y","Codons":"Gac/Tac","Existing_variation":"rs1554868919;COSV100077633;COSV100077977","TRANSCRIPT_STRAND":1,"SYMBOL":"PNLIPRP2","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:9157","BIOTYPE":"protein_coding","ENSP":"ENSP00000480815","TREMBL":"A0A087WX88.40","UNIPARC":"UPI0004E4CC43","APPRIS":"A2","SIFT":"deleterious(0)","PolyPhen":"probably_damaging(1)","EXON":"4/13","DOMAINS":"CDD:cd00707;PANTHER:PTHR11610:SF85;PANTHER:PTHR11610;Gene3D:3.40.50.1820;PIRSF:PIRSF000865;Pfam:PF00151;Superfamily:SSF53474;Prints:PR00821;Prints:PR00823","gnomAD_AF":"4.068e-06","gnomAD_AFR_AF":"6.535e-05","gnomAD_AMR_AF":"0","gnomAD_ASJ_AF":"0","gnomAD_EAS_AF":"0","gnomAD_FIN_AF":"0","gnomAD_NFE_AF":"0","gnomAD_OTH_AF":"0","gnomAD_SAS_AF":"0","MAX_AF":"6.535e-05","MAX_AF_POPS":"gnomAD_AFR","gnomAD_non_cancer_AF":"6.75894989399239e-06","gnomAD_non_cancer_AFR_AF":"2.43143003899604e-05","gnomAD_non_cancer_AMI_AF":"0","gnomAD_non_cancer_AMR_AF":"0","gnomAD_non_cancer_ASJ_AF":"0","gnomAD_non_cancer_EAS_AF":"0","gnomAD_non_cancer_FIN_AF":"0","gnomAD_non_cancer_MID_AF":"0","gnomAD_non_cancer_NFE_AF":"0","gnomAD_non_cancer_OTH_AF":"0","gnomAD_non_cancer_SAS_AF":"0","SOMATIC":"0;1;1","IMPACT":"MODERATE","VARIANT_CLASS":"SNV","TSL":5,"PHENO":"0;1;1","CONTEXT":"GTGTGGACTGG","tumor_bam_uuid":"d3ccde1f-1ad8-4ef0-95f7-fead69c4f111","normal_bam_uuid":"15756a48-affe-40bd-a9ed-b218270439a2","case_id":"54e90433-5218-4d83-848f-f995ecba2a63","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"219","Hugo_Symbol":"BCOR","Entrez_Gene_Id":54880,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chrX","Start_Position":40072864,"End_Position":40072864,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"T","Tumor_Sample_Barcode":"TCGA-55-8089-01A-11D-2238-08","Matched_Norm_Sample_Barcode":"TCGA-55-8089-10A-01D-2238-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"a5056023-b935-4a18-821b-2ff8562b2c2a","Matched_Norm_Sample_UUID":"4380ca33-2c75-4d97-9112-38a626c1cc6d","HGVSc":"c.2482G>A","HGVSp":"p.Ala828Thr","HGVSp_Short":"p.A828T","Transcript_ID":"ENST00000378444","Exon_Number":"4/15","t_depth":31,"t_ref_count":21,"t_alt_count":10,"n_depth":46,"all_effects":"BCOR,missense_variant,p.A828T,ENST00000378444,NM_001123385.2,c.2482G>A,MODERATE,YES,tolerated(0.65),benign(0.003),-1;BCOR,missense_variant,p.A828T,ENST00000342274,NM_001123383.1,c.2482G>A,MODERATE,,tolerated(0.59),benign(0.005),-1;BCOR,missense_variant,p.A828T,ENST00000378455,NM_001123384.2,c.2482G>A,MODERATE,,tolerated(0.62),benign(0.005),-1;BCOR,missense_variant,p.A828T,ENST00000397354,NM_017745.6,c.2482G>A,MODERATE,,tolerated(0.59),benign(0.005),-1;BCOR,missense_variant,p.A828T,ENST00000673391,,c.2482G>A,MODERATE,,tolerated(0.59),benign(0.005),-1;BCOR,missense_variant,p.A299T,ENST00000427012,,c.895G>A,MODERATE,,tolerated(0.58),benign(0.015),-1;BCOR,missense_variant,p.A828T,ENST00000406200,,c.2482G>A,MODERATE,,tolerated(0.58),benign(0.005),-1;BCOR,missense_variant,p.A235T,ENST00000615339,,c.703G>A,MODERATE,,tolerated(0.63),benign(0.019),-1;BCOR,downstream_gene_variant,,ENST00000412952,,,MODIFIER,,,,-1;BCOR,downstream_gene_variant,,ENST00000672922,,,MODIFIER,,,,-1;BCOR,upstream_gene_variant,,ENST00000378463,,,MODIFIER,,,,-1;BCOR,non_coding_transcript_exon_variant,,ENST00000490976,,n.2522G>A,MODIFIER,,,,-1","Allele":"T","Gene":"ENSG00000183337","Feature":"ENST00000378444","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"3266/6910","CDS_position":"2482/5268","Protein_position":"828/1755","Amino_acids":"A/T","Codons":"Gca/Aca","Existing_variation":"COSV60699711","TRANSCRIPT_STRAND":-1,"SYMBOL":"BCOR","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:20893","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS48093.1","ENSP":"ENSP00000367705","SWISSPROT":"Q6W2J9.159","UNIPARC":"UPI00002318CF","UNIPROT_ISOFORM":"Q6W2J9-1","RefSeq":"NM_001123385.2","MANE":"NM_001123385.2","APPRIS":"P4","SIFT":"tolerated(0.65)","PolyPhen":"benign(0.003)","EXON":"4/15","DOMAINS":"MobiDB_lite:mobidb-lite;PANTHER:PTHR24117;PANTHER:PTHR24117:SF8","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","GENE_PHENO":"1","CONTEXT":"CTCTGCTGCAA","tumor_bam_uuid":"4eb81955-eeef-4d54-9d97-ddeb3337a1cf","normal_bam_uuid":"da0262c0-f23a-475c-9c8b-80b9c2798d14","case_id":"1070ff27-17c9-43dd-a4f6-daa643eb9123","COSMIC":"COSM1121169;COSM1651557","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"71","Hugo_Symbol":"PSG4","Entrez_Gene_Id":5672,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr19","Start_Position":43204107,"End_Position":43204107,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"G","Tumor_Sample_Barcode":"TCGA-91-6849-01A-11D-1945-08","Matched_Norm_Sample_Barcode":"TCGA-91-6849-11A-01D-1945-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"e35f07c4-bc27-4f85-bc74-acb00e8445bd","Matched_Norm_Sample_UUID":"21fa02d1-a56c-4fe0-80eb-780083e6a889","HGVSc":"c.209G>C","HGVSp":"p.Gly70Ala","HGVSp_Short":"p.G70A","Transcript_ID":"ENST00000405312","Exon_Number":"2/6","t_depth":262,"t_ref_count":117,"t_alt_count":145,"n_depth":158,"all_effects":"PSG4,missense_variant,p.G70A,ENST00000405312,NM_001316339.2&NM_002780.5,c.209G>C,MODERATE,YES,deleterious(0),probably_damaging(0.934),-1;PSG4,missense_variant,p.G70A,ENST00000433626,NM_001276495.1,c.209G>C,MODERATE,,deleterious(0.01),probably_damaging(0.977),-1;PSG4,missense_variant,p.G70A,ENST00000244295,NM_213633.3,c.209G>C,MODERATE,,deleterious(0.01),probably_damaging(1),-1;PSG4,missense_variant,p.G86A,ENST00000451895,,c.257G>C,MODERATE,,deleterious(0.02),probably_damaging(0.977),-1;PSG4,missense_variant,p.G49A,ENST00000599746,,c.146G>C,MODERATE,,deleterious(0.02),probably_damaging(0.992),-1;PSG4,5_prime_UTR_variant,,ENST00000600572,,c.-5G>C,MODIFIER,,,,-1;PSG4,intron_variant,,ENST00000596907,,c.64+1366G>C,MODIFIER,,,,-1;PSG4,intron_variant,,ENST00000599391,,c.64+1366G>C,MODIFIER,,,,-1;PSG4,non_coding_transcript_exon_variant,,ENST00000597912,,n.1276G>C,MODIFIER,,,,-1;PSG4,intron_variant,,ENST00000595949,,c.64+1366G>C,MODIFIER,,,,-1;PSG4,intron_variant,,ENST00000596199,,n.166+1366G>C,MODIFIER,,,,-1;PSG4,intron_variant,,ENST00000601041,,c.64+1366G>C,MODIFIER,,,,-1;PSG4,upstream_gene_variant,,ENST00000495316,,,MODIFIER,,,,-1","Allele":"G","Gene":"ENSG00000243137","Feature":"ENST00000405312","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"311/2032","CDS_position":"209/1260","Protein_position":"70/419","Amino_acids":"G/A","Codons":"gGg/gCg","Existing_variation":"COSV54941604","TRANSCRIPT_STRAND":-1,"SYMBOL":"PSG4","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:9521","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS46093.1","ENSP":"ENSP00000384770","SWISSPROT":"Q00888.188","UNIPARC":"UPI000034ECBA","UNIPROT_ISOFORM":"Q00888-1","RefSeq":"NM_001316339.2;NM_002780.5","MANE":"NM_002780.5","APPRIS":"P1","SIFT":"deleterious(0)","PolyPhen":"probably_damaging(0.934)","EXON":"2/6","DOMAINS":"CDD:cd05774;PANTHER:PTHR44427;PANTHER:PTHR44427:SF17;Pfam:PF07686;Gene3D:2.60.40.10;SMART:SM00409;Superfamily:SSF48726","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","CONTEXT":"TTTGCCCTTTG","tumor_bam_uuid":"4e868e65-95d7-4955-ad1a-51f4063286c6","normal_bam_uuid":"71acc17d-fc16-4ba2-b4fe-7ac2d237a696","case_id":"953a908d-0993-42f6-853b-512611d19a2c","COSMIC":"COSM6151633;COSM6151634","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"248","Hugo_Symbol":"TEX13A","Entrez_Gene_Id":56157,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chrX","Start_Position":105219257,"End_Position":105219257,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-73-4670-01A-01D-1265-08","Matched_Norm_Sample_Barcode":"TCGA-73-4670-11A-01D-1265-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"2aea0652-17ae-4dfa-9358-206d4f24f02f","Matched_Norm_Sample_UUID":"a5b33638-194b-4a5e-9eca-5c110202dc06","HGVSc":"c.937G>T","HGVSp":"p.Asp313Tyr","HGVSp_Short":"p.D313Y","Transcript_ID":"ENST00000600991","Exon_Number":"3/3","t_depth":109,"t_ref_count":66,"t_alt_count":43,"n_depth":101,"all_effects":"TEX13A,missense_variant,p.D313Y,ENST00000600991,NM_031274.5,c.937G>T,MODERATE,YES,deleterious(0.04),benign(0.036),-1;TEX13A,missense_variant,p.D313Y,ENST00000609007,NM_001291277.2,c.937G>T,MODERATE,,deleterious(0.04),benign(0.036),-1;IL1RAPL2,intron_variant,,ENST00000372582,NM_017416.2,c.357-14561C>A,MODIFIER,YES,,,1","Allele":"A","Gene":"ENSG00000268629","Feature":"ENST00000600991","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"1069/1397","CDS_position":"937/1230","Protein_position":"313/409","Amino_acids":"D/Y","Codons":"Gac/Tac","Existing_variation":"COSV61151729","TRANSCRIPT_STRAND":-1,"SYMBOL":"TEX13A","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:11735","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS76005.1","ENSP":"ENSP00000471604","SWISSPROT":"Q9BXU3.131","UNIPARC":"UPI0000042200","RefSeq":"NM_031274.5","MANE":"NM_031274.5","APPRIS":"P1","SIFT":"deleterious(0.04)","PolyPhen":"benign(0.036)","EXON":"3/3","DOMAINS":"Low_complexity_(Seg):seg;PANTHER:PTHR23111;PANTHER:PTHR23111:SF70","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","CONTEXT":"TATGTCTGAGA","tumor_bam_uuid":"edcaaa46-b084-409f-90e1-3c6789daa3be","normal_bam_uuid":"d1ba8579-6759-4bbd-a4c5-14bbeab80abc","case_id":"1b354837-4925-4480-ac32-6b44d0957314","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"389","Hugo_Symbol":"OR52I2","Entrez_Gene_Id":143502,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr11","Start_Position":4587214,"End_Position":4587214,"Strand":"+","Variant_Classification":"Silent","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-53-7624-01A-11D-2063-08","Matched_Norm_Sample_Barcode":"TCGA-53-7624-10A-01D-2063-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"5685f3a2-2a81-48a9-87f7-e539425e9bc6","Matched_Norm_Sample_UUID":"92ce6f8c-0066-4617-820d-5905371d7912","HGVSc":"c.402C>A","HGVSp":"p.Val134=","HGVSp_Short":"p.V134=","Transcript_ID":"ENST00000312614","Exon_Number":"1/1","t_depth":71,"t_ref_count":33,"t_alt_count":38,"n_depth":52,"all_effects":"OR52I2,synonymous_variant,p.V108=,ENST00000641896,,c.324C>A,LOW,,,,1;OR52I2,synonymous_variant,p.V134=,ENST00000312614,NM_001005170.2,c.402C>A,LOW,YES,,,1;OR52I2,synonymous_variant,p.V108=,ENST00000641486,,c.324C>A,LOW,,,,1","Allele":"A","Gene":"ENSG00000226288","Feature":"ENST00000312614","Feature_type":"Transcript","One_Consequence":"synonymous_variant","Consequence":"synonymous_variant","cDNA_position":"424/1115","CDS_position":"402/1053","Protein_position":"134/350","Amino_acids":"V","Codons":"gtC/gtA","Existing_variation":"COSV100442815","TRANSCRIPT_STRAND":1,"SYMBOL":"OR52I2","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:15221","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS31355.1","ENSP":"ENSP00000308764","SWISSPROT":"Q8NH67.140","UNIPARC":"UPI00003B2880","RefSeq":"NM_001005170.2","EXON":"1/1","DOMAINS":"Transmembrane_helices:TMhelix;PROSITE_profiles:PS50262;CDD:cd15950;PANTHER:PTHR26450;PANTHER:PTHR26450:SF177;Gene3D:1.20.1070.10;Pfam:PF13853;Superfamily:SSF81321;Prints:PR00237","SOMATIC":"1","IMPACT":"LOW","PICK":1,"VARIANT_CLASS":"SNV","PHENO":"1","CONTEXT":"TTTGTCCACTT","tumor_bam_uuid":"9079a76c-aeb4-42aa-abe2-3ea0d6d12ce5","normal_bam_uuid":"c77e94f3-d18f-4aef-86c7-ba72ca4fc51b","case_id":"54a9cc9e-3eee-4caa-9f33-4ea64a2999ba","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"464","Hugo_Symbol":"GHDC","Entrez_Gene_Id":84514,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr17","Start_Position":42192647,"End_Position":42192647,"Strand":"+","Variant_Classification":"Silent","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-MN-A4N1-01A-11D-A24P-08","Matched_Norm_Sample_Barcode":"TCGA-MN-A4N1-10A-01D-A24P-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"c50ccd27-edbb-48f8-9633-168462507edd","Matched_Norm_Sample_UUID":"8030ca48-260a-4c6b-90b5-ba6602c0f960","HGVSc":"c.483C>T","HGVSp":"p.Pro161=","HGVSp_Short":"p.P161=","Transcript_ID":"ENST00000301671","Exon_Number":"4/9","t_depth":78,"t_ref_count":61,"t_alt_count":17,"n_depth":126,"all_effects":"GHDC,synonymous_variant,p.P161=,ENST00000301671,,c.483C>T,LOW,YES,,,-1;GHDC,synonymous_variant,p.P161=,ENST00000428494,,c.483C>T,LOW,,,,-1;GHDC,synonymous_variant,p.P161=,ENST00000414034,NM_001142623.2,c.483C>T,LOW,,,,-1;GHDC,synonymous_variant,p.P161=,ENST00000587427,NM_032484.5,c.483C>T,LOW,,,,-1;GHDC,synonymous_variant,p.P161=,ENST00000593209,,c.483C>T,LOW,,,,-1;GHDC,downstream_gene_variant,,ENST00000588352,,,MODIFIER,,,,-1;GHDC,downstream_gene_variant,,ENST00000590249,,,MODIFIER,,,,-1;GHDC,downstream_gene_variant,,ENST00000586692,,,MODIFIER,,,,-1;GHDC,downstream_gene_variant,,ENST00000590520,,,MODIFIER,,,,-1;GHDC,3_prime_UTR_variant,,ENST00000588762,,c.*218C>T,MODIFIER,,,,-1;GHDC,downstream_gene_variant,,ENST00000585375,,,MODIFIER,,,,-1;GHDC,upstream_gene_variant,,ENST00000585735,,,MODIFIER,,,,-1","Allele":"A","Gene":"ENSG00000167925","Feature":"ENST00000301671","Feature_type":"Transcript","One_Consequence":"synonymous_variant","Consequence":"synonymous_variant","cDNA_position":"925/2650","CDS_position":"483/1593","Protein_position":"161/530","Amino_acids":"P","Codons":"ccC/ccT","Existing_variation":"COSV100054868","TRANSCRIPT_STRAND":-1,"SYMBOL":"GHDC","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:24438","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS11422.1","ENSP":"ENSP00000301671","SWISSPROT":"Q8N2G8.127","TREMBL":"A0A024R1Y7.49","UNIPARC":"UPI000006E533","UNIPROT_ISOFORM":"Q8N2G8-1","APPRIS":"P1","EXON":"4/9","DOMAINS":"PANTHER:PTHR31901;PANTHER:PTHR31901:SF59","SOMATIC":"1","IMPACT":"LOW","PICK":1,"VARIANT_CLASS":"SNV","TSL":2,"PHENO":"1","CONTEXT":"GGTCGGGGCCA","tumor_bam_uuid":"cfe0d785-9d2c-4c44-85a4-649211d645dd","normal_bam_uuid":"8f9391a9-51be-4ace-8ff7-56596b2b06f4","case_id":"75a0bb0b-6528-4fb8-a9e6-254905d21df4","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"348","Hugo_Symbol":"OR8B12","Entrez_Gene_Id":219858,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr11","Start_Position":124543583,"End_Position":124543583,"Strand":"+","Variant_Classification":"Silent","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"T","Tumor_Sample_Barcode":"TCGA-44-2656-01A-41D-A27T-08","Matched_Norm_Sample_Barcode":"TCGA-44-2656-10A-01D-0969-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"f2b495bf-caf4-48bf-a090-92d04d017a7e","Matched_Norm_Sample_UUID":"03b8420d-480f-48e1-88a7-8ee9917049a6","HGVSc":"c.72C>A","HGVSp":"p.Ile24=","HGVSp_Short":"p.I24=","Transcript_ID":"ENST00000306842","Exon_Number":"1/1","t_depth":139,"t_ref_count":81,"t_alt_count":58,"n_depth":150,"all_effects":"OR8B12,synonymous_variant,p.I24=,ENST00000306842,NM_001005195.1,c.72C>A,LOW,YES,,,-1;OR8B12,intron_variant,,ENST00000641958,,n.65-212C>A,MODIFIER,,,,-1;AP000916.1,upstream_gene_variant,,ENST00000533869,,,MODIFIER,YES,,,-1","Allele":"T","Gene":"ENSG00000170953","Feature":"ENST00000306842","Feature_type":"Transcript","One_Consequence":"synonymous_variant","Consequence":"synonymous_variant","cDNA_position":"97/998","CDS_position":"72/933","Protein_position":"24/310","Amino_acids":"I","Codons":"atC/atA","Existing_variation":"COSV60911050;COSV60912472","TRANSCRIPT_STRAND":-1,"SYMBOL":"OR8B12","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:15307","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS31711.1","ENSP":"ENSP00000307159","SWISSPROT":"Q8NGG6.139","TREMBL":"A0A126GWS7.28","UNIPARC":"UPI0000041E25","RefSeq":"NM_001005195.1","APPRIS":"P1","EXON":"1/1","DOMAINS":"Gene3D:1.20.1070.10;PANTHER:PTHR26452;PANTHER:PTHR26452:SF267;Superfamily:SSF81321;CDD:cd15405","SOMATIC":"1;1","IMPACT":"LOW","PICK":1,"VARIANT_CLASS":"SNV","PHENO":"1;1","CONTEXT":"AGGGGGATCCG","tumor_bam_uuid":"284fba1d-e169-4a2d-b09d-1ceb643ec3bc","normal_bam_uuid":"ada4ffdf-3ba5-4ad0-8eb4-634d04b2b9b8","case_id":"42ca54fc-c1ae-41cd-bca1-7fe9810db460","COSMIC":"COSM6067721","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"284","Hugo_Symbol":"YIPF7","Entrez_Gene_Id":285525,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr4","Start_Position":44624702,"End_Position":44624702,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"T","dbSNP_RS":"rs754855720","Tumor_Sample_Barcode":"TCGA-62-8398-01A-11D-2323-08","Matched_Norm_Sample_Barcode":"TCGA-62-8398-10A-01D-2323-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"7d099cbd-bc6c-4207-a682-0d2f62d230a6","Matched_Norm_Sample_UUID":"151ad557-d7fb-423c-8cba-83af9da76485","HGVSc":"c.579G>A","HGVSp":"p.Met193Ile","HGVSp_Short":"p.M193I","Transcript_ID":"ENST00000332990","Exon_Number":"5/6","t_depth":28,"t_ref_count":20,"t_alt_count":8,"n_depth":20,"all_effects":"YIPF7,missense_variant,p.M169I,ENST00000415895,,c.507G>A,MODERATE,,deleterious(0),possibly_damaging(0.883),-1;YIPF7,missense_variant,p.M193I,ENST00000332990,NM_182592.2,c.579G>A,MODERATE,YES,deleterious(0),possibly_damaging(0.883),-1;YIPF7,downstream_gene_variant,,ENST00000502794,,,MODIFIER,,,,-1;YIPF7,downstream_gene_variant,,ENST00000510035,,,MODIFIER,,,,-1","Allele":"T","Gene":"ENSG00000177752","Feature":"ENST00000332990","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"596/937","CDS_position":"579/843","Protein_position":"193/280","Amino_acids":"M/I","Codons":"atG/atA","Existing_variation":"rs754855720;COSV100274344","TRANSCRIPT_STRAND":-1,"SYMBOL":"YIPF7","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:26825","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS54766.1","ENSP":"ENSP00000332772","SWISSPROT":"Q8N8F6.114","UNIPARC":"UPI00015347BF","UNIPROT_ISOFORM":"Q8N8F6-1","RefSeq":"NM_182592.2","SIFT":"deleterious(0)","PolyPhen":"possibly_damaging(0.883)","EXON":"5/6","DOMAINS":"Pfam:PF04893;PANTHER:PTHR21236;PANTHER:PTHR21236:SF5","gnomAD_AF":"8.24e-06","gnomAD_AFR_AF":"0","gnomAD_AMR_AF":"5.887e-05","gnomAD_ASJ_AF":"0","gnomAD_EAS_AF":"0","gnomAD_FIN_AF":"0","gnomAD_NFE_AF":"0","gnomAD_OTH_AF":"0","gnomAD_SAS_AF":"0","MAX_AF":"5.887e-05","MAX_AF_POPS":"gnomAD_AMR","SOMATIC":"0;1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":5,"PHENO":"0;1","CONTEXT":"GAGCTCATCAG","tumor_bam_uuid":"3faad81b-3a13-4aa0-91f1-4f4e9a963ff9","normal_bam_uuid":"eb918aaf-f0d4-4de9-bd1f-d252886e96ca","case_id":"2fabeb98-05e3-4f55-97f5-fbc675e25a3d","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"526","Hugo_Symbol":"ZHX1","Entrez_Gene_Id":11244,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr8","Start_Position":123255787,"End_Position":123255787,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"T","Tumor_Sample_Barcode":"TCGA-62-A46O-01A-11D-A24D-08","Matched_Norm_Sample_Barcode":"TCGA-62-A46O-10A-01D-A24F-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"ff9ce3ef-d0d4-45b0-a506-e87732d1480e","Matched_Norm_Sample_UUID":"4fb194cb-66e6-484e-b119-b27f5cf8e487","HGVSc":"c.160G>A","HGVSp":"p.Glu54Lys","HGVSp_Short":"p.E54K","Transcript_ID":"ENST00000297857","Exon_Number":"3/4","t_depth":67,"t_ref_count":33,"t_alt_count":34,"n_depth":104,"all_effects":"ZHX1,missense_variant,p.E54K,ENST00000297857,NM_001017926.2,c.160G>A,MODERATE,YES,deleterious(0.01),benign(0.033),-1;ZHX1,missense_variant,p.E54K,ENST00000395571,NM_007222.5,c.160G>A,MODERATE,,deleterious(0.01),benign(0.033),-1;ZHX1,missense_variant,p.E54K,ENST00000522655,,c.160G>A,MODERATE,,deleterious(0.01),benign(0.033),-1;ZHX1-C8orf76,intron_variant,,ENST00000357082,NM_001204180.2,c.21+11486G>A,MODIFIER,YES,,,-1;ZHX1-C8orf76,intron_variant,,ENST00000622816,,c.21+11486G>A,MODIFIER,,,,-1;ZHX1,upstream_gene_variant,,ENST00000602651,,,MODIFIER,,,,-1;ZHX1,non_coding_transcript_exon_variant,,ENST00000522595,,n.862G>A,MODIFIER,,,,-1;ZHX1,intron_variant,,ENST00000517516,,n.120-5467G>A,MODIFIER,,,,-1;ZHX1,downstream_gene_variant,,ENST00000480132,,,MODIFIER,,,,-1;ZHX1,downstream_gene_variant,,ENST00000524267,,,MODIFIER,,,,-1","Allele":"T","Gene":"ENSG00000165156","Feature":"ENST00000297857","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"865/5200","CDS_position":"160/2622","Protein_position":"54/873","Amino_acids":"E/K","Codons":"Gaa/Aaa","Existing_variation":"COSV99933391","TRANSCRIPT_STRAND":-1,"SYMBOL":"ZHX1","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:12871","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS6342.1","ENSP":"ENSP00000297857","SWISSPROT":"Q9UKY1.177","TREMBL":"A0A024R9F1.51","UNIPARC":"UPI000007404F","RefSeq":"NM_001017926.2","APPRIS":"P1","SIFT":"deleterious(0.01)","PolyPhen":"benign(0.033)","EXON":"3/4","DOMAINS":"PANTHER:PTHR15467;PANTHER:PTHR15467:SF4;MobiDB_lite:mobidb-lite;MobiDB_lite:mobidb-lite;Low_complexity_(Seg):seg","SOMATIC":"1","IMPACT":"MODERATE","VARIANT_CLASS":"SNV","TSL":5,"PHENO":"1","CONTEXT":"AGATTCATGAA","tumor_bam_uuid":"bd40159e-39f2-452f-b9a3-b25f9dfc31b7","normal_bam_uuid":"81f053ce-3443-4a62-9615-08e9ca5ebeae","case_id":"d7ae8efb-aa4d-4807-9772-55b0a28ccd5c","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"318","Hugo_Symbol":"DNAH8","Entrez_Gene_Id":1769,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr6","Start_Position":38886840,"End_Position":38886840,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"T","dbSNP_RS":"novel","Tumor_Sample_Barcode":"TCGA-17-Z056-01A-01W-0747-08","Matched_Norm_Sample_Barcode":"TCGA-17-Z056-11A-01W-0747-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"e6cb3d63-5a55-4eba-84d2-a25917c7b18e","Matched_Norm_Sample_UUID":"bff97ed8-5168-4367-8f15-29849ce29f87","HGVSc":"c.7658G>T","HGVSp":"p.Ser2553Ile","HGVSp_Short":"p.S2553I","Transcript_ID":"ENST00000359357","Exon_Number":"55/91","t_depth":279,"t_ref_count":245,"t_alt_count":33,"n_depth":339,"all_effects":"DNAH8,missense_variant,p.S2770I,ENST00000327475,NM_001206927.2,c.8309G>T,MODERATE,YES,deleterious(0),probably_damaging(0.998),1;DNAH8,missense_variant,p.S2553I,ENST00000359357,NM_001371.4,c.7658G>T,MODERATE,,deleterious(0),probably_damaging(0.932),1;DNAH8,missense_variant,p.S2770I,ENST00000449981,,c.8309G>T,MODERATE,,deleterious(0),probably_damaging(0.972),1","Allele":"T","Gene":"ENSG00000124721","Feature":"ENST00000359357","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"7912/13864","CDS_position":"7658/13473","Protein_position":"2553/4490","Amino_acids":"S/I","Codons":"aGc/aTc","TRANSCRIPT_STRAND":1,"SYMBOL":"DNAH8","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:2952","BIOTYPE":"protein_coding","ENSP":"ENSP00000352312","SWISSPROT":"Q96JB1.136","UNIPARC":"UPI00003677EB","UNIPROT_ISOFORM":"Q96JB1-1","RefSeq":"NM_001371.4","APPRIS":"A2","SIFT":"deleterious(0)","PolyPhen":"probably_damaging(0.932)","EXON":"55/91","DOMAINS":"Gene3D:3.40.50.300;Pfam:PF12775;PANTHER:PTHR10676;PANTHER:PTHR10676:SF361;SMART:SM00382;Superfamily:SSF52540","IMPACT":"MODERATE","VARIANT_CLASS":"SNV","TSL":2,"CONTEXT":"GTACAGCTTGG","tumor_bam_uuid":"e641e2f1-a384-4fca-b9ab-9003b688201d","normal_bam_uuid":"c439ecac-bba0-48ff-98c7-66ed2f6efc90","case_id":"392ca7f3-d52e-4aa7-a9ba-4c7d9aa6401c","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"417","Hugo_Symbol":"CMTM5","Entrez_Gene_Id":116173,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr14","Start_Position":23378441,"End_Position":23378441,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-62-8399-01A-21D-2323-08","Matched_Norm_Sample_Barcode":"TCGA-62-8399-10A-01D-2323-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"dd097196-01a6-43dc-976f-4f9c5221f384","Matched_Norm_Sample_UUID":"310ce1a5-5291-425e-8f7e-9772a7eb9d4a","HGVSc":"c.219C>A","HGVSp":"p.Phe73Leu","HGVSp_Short":"p.F73L","Transcript_ID":"ENST00000339180","Exon_Number":"2/6","t_depth":164,"t_ref_count":110,"t_alt_count":54,"n_depth":196,"all_effects":"CMTM5,missense_variant,p.F73L,ENST00000359320,NM_138460.3,c.219C>A,MODERATE,,tolerated(0.38),benign(0.168),1;CMTM5,missense_variant,p.F73L,ENST00000339180,NM_001288746.2,c.219C>A,MODERATE,YES,tolerated(0.25),possibly_damaging(0.673),1;CMTM5,missense_variant,p.F73L,ENST00000649278,,c.219C>A,MODERATE,,tolerated(0.38),benign(0.168),1;CMTM5,missense_variant,p.F73L,ENST00000382809,NM_001037288.2,c.219C>A,MODERATE,,tolerated(0.17),benign(0.391),1;CMTM5,intron_variant,,ENST00000342473,NM_001288745.2,c.127-858C>A,MODIFIER,,,,1;CMTM5,intron_variant,,ENST00000397227,NM_001288744.2,c.127-590C>A,MODIFIER,,,,1;CMTM5,intron_variant,,ENST00000555731,,c.127-22C>A,MODIFIER,,,,1;IL25,downstream_gene_variant,,ENST00000329715,NM_022789.3,,MODIFIER,YES,,,1;IL25,downstream_gene_variant,,ENST00000397242,NM_172314.1,,MODIFIER,,,,1;MYH6,downstream_gene_variant,,ENST00000405093,NM_002471.4,,MODIFIER,YES,,,-1;CMTM5,non_coding_transcript_exon_variant,,ENST00000553750,,n.1395C>A,MODIFIER,,,,1;CMTM5,non_coding_transcript_exon_variant,,ENST00000555487,,n.523C>A,MODIFIER,,,,1;MYH6,downstream_gene_variant,,ENST00000651452,,,MODIFIER,,,,-1","Allele":"A","Gene":"ENSG00000166091","Feature":"ENST00000339180","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"425/1163","CDS_position":"219/672","Protein_position":"73/223","Amino_acids":"F/L","Codons":"ttC/ttA","Existing_variation":"COSV100197996","TRANSCRIPT_STRAND":1,"SYMBOL":"CMTM5","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:19176","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS73617.1","ENSP":"ENSP00000344819","SWISSPROT":"Q96DZ9.145","UNIPARC":"UPI00001B5BF1","UNIPROT_ISOFORM":"Q96DZ9-1","RefSeq":"NM_001288746.2","MANE":"NM_001288746.2","SIFT":"tolerated(0.25)","PolyPhen":"possibly_damaging(0.673)","EXON":"2/6","DOMAINS":"Pfam:PF01284;PROSITE_profiles:PS51225;PANTHER:PTHR22776;PANTHER:PTHR22776:SF26;Transmembrane_helices:TMhelix","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","CONTEXT":"GCCTTCCTCTT","tumor_bam_uuid":"697ac18f-2864-4a54-a7c1-5a69adadc4f5","normal_bam_uuid":"008db3c7-d014-4706-872c-95c5d3380eb8","case_id":"62380447-3b94-4e7c-823a-72dd7b4ccf3a","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"445","Hugo_Symbol":"PRMT1","Entrez_Gene_Id":3276,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr19","Start_Position":49686624,"End_Position":49686624,"Strand":"+","Variant_Classification":"Silent","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"T","Tumor_Sample_Barcode":"TCGA-49-6767-01A-11D-1855-08","Matched_Norm_Sample_Barcode":"TCGA-49-6767-11A-01D-1855-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"9f82f494-042a-4f00-954c-4761fa25b298","Matched_Norm_Sample_UUID":"25c0da49-0dd3-4eac-a262-756b8e3870dc","HGVSc":"c.930G>T","HGVSp":"p.Thr310=","HGVSp_Short":"p.T310=","Transcript_ID":"ENST00000454376","Exon_Number":"10/11","t_depth":35,"t_ref_count":19,"t_alt_count":16,"n_depth":60,"all_effects":"PRMT1,synonymous_variant,p.T264=,ENST00000532489,,c.792G>T,LOW,,,,1;PRMT1,synonymous_variant,p.T292=,ENST00000391851,NM_198318.5,c.876G>T,LOW,,,,1;PRMT1,synonymous_variant,p.T310=,ENST00000454376,NM_001536.6,c.930G>T,LOW,YES,,,1;PRMT1,synonymous_variant,p.T224=,ENST00000610806,NM_001207042.3,c.672G>T,LOW,,,,1;CPT1C,upstream_gene_variant,,ENST00000323446,NM_001378483.1&NM_152359.3&NM_001378484.1,,MODIFIER,,,,1;CPT1C,upstream_gene_variant,,ENST00000392518,NM_001199752.3&NM_001378486.1,,MODIFIER,YES,,,1;CPT1C,upstream_gene_variant,,ENST00000405931,NM_001378485.1&NM_001378482.1&NM_001136052.3&NM_001378487.1,,MODIFIER,,,,1;ADM5,upstream_gene_variant,,ENST00000420022,NM_001101340.1,,MODIFIER,YES,,,1;PRMT1,downstream_gene_variant,,ENST00000524771,,,MODIFIER,,,,1;PRMT1,downstream_gene_variant,,ENST00000526224,,,MODIFIER,,,,1;PRMT1,downstream_gene_variant,,ENST00000527382,,,MODIFIER,,,,1;PRMT1,downstream_gene_variant,,ENST00000528623,,,MODIFIER,,,,1;PRMT1,downstream_gene_variant,,ENST00000529284,,,MODIFIER,,,,1;PRMT1,downstream_gene_variant,,ENST00000529836,,,MODIFIER,,,,1;PRMT1,downstream_gene_variant,,ENST00000534465,,,MODIFIER,,,,1;CPT1C,upstream_gene_variant,,ENST00000594587,,,MODIFIER,,,,1;CPT1C,upstream_gene_variant,,ENST00000595969,,,MODIFIER,,,,1;CPT1C,upstream_gene_variant,,ENST00000598293,NM_001199753.2&NM_001378488.1,,MODIFIER,,,,1;CPT1C,upstream_gene_variant,,ENST00000598396,,,MODIFIER,,,,1;CPT1C,upstream_gene_variant,,ENST00000602019,,,MODIFIER,,,,1;MIR5088,downstream_gene_variant,,ENST00000615402,,,MODIFIER,YES,,,1;PRMT1,non_coding_transcript_exon_variant,,ENST00000530361,,n.506G>T,MODIFIER,,,,1;PRMT1,upstream_gene_variant,,ENST00000527866,,,MODIFIER,,,,1;PRMT1,downstream_gene_variant,,ENST00000530070,,,MODIFIER,,,,1;CPT1C,upstream_gene_variant,,ENST00000598714,,,MODIFIER,,,,1;PRMT1,non_coding_transcript_exon_variant,,ENST00000528126,,n.540G>T,MODIFIER,,,,1;PRMT1,downstream_gene_variant,,ENST00000525616,,,MODIFIER,,,,1;PRMT1,downstream_gene_variant,,ENST00000527412,,,MODIFIER,,,,1;PRMT1,downstream_gene_variant,,ENST00000529650,,,MODIFIER,,,,1;PRMT1,downstream_gene_variant,,ENST00000534280,,,MODIFIER,,,,1;PRMT1,downstream_gene_variant,,ENST00000534676,,,MODIFIER,,,,1;CPT1C,upstream_gene_variant,,ENST00000594038,,,MODIFIER,,,,1;CPT1C,upstream_gene_variant,,ENST00000595568,,,MODIFIER,,,,1;CPT1C,upstream_gene_variant,,ENST00000596922,,,MODIFIER,,,,1;CPT1C,upstream_gene_variant,,ENST00000598259,,,MODIFIER,,,,1;CPT1C,upstream_gene_variant,,ENST00000599023,,,MODIFIER,,,,1;CPT1C,upstream_gene_variant,,ENST00000600944,,,MODIFIER,,,,1;AC011495.3,downstream_gene_variant,,ENST00000596472,,,MODIFIER,YES,,,-1","Allele":"T","Gene":"ENSG00000126457","Feature":"ENST00000454376","Feature_type":"Transcript","One_Consequence":"synonymous_variant","Consequence":"synonymous_variant","cDNA_position":"940/1328","CDS_position":"930/1116","Protein_position":"310/371","Amino_acids":"T","Codons":"acG/acT","Existing_variation":"COSV60194556;COSV60195974","TRANSCRIPT_STRAND":1,"SYMBOL":"PRMT1","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:5187","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS46145.1","ENSP":"ENSP00000406162","SWISSPROT":"Q99873.183","UNIPARC":"UPI0000456CFB","UNIPROT_ISOFORM":"Q99873-1","RefSeq":"NM_001536.6","MANE":"NM_001536.6","APPRIS":"P4","EXON":"10/11","DOMAINS":"PDB-ENSP_mappings:6nt2.A;PDB-ENSP_mappings:6nt2.B;PDB-ENSP_mappings:6nt2.C;PDB-ENSP_mappings:6nt2.D;PROSITE_profiles:PS51678;PANTHER:PTHR11006;PANTHER:PTHR11006:SF54;Gene3D:2.70.160.11;Superfamily:SSF53335","SOMATIC":"1;1","IMPACT":"LOW","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1;1","CONTEXT":"TACACGCACTG","tumor_bam_uuid":"d0510269-2aa9-4da9-8dd6-c5f3f874e702","normal_bam_uuid":"68ffd2d1-57f8-4707-bf14-33e4358d686c","case_id":"6bffe800-ec2b-4638-9333-97fe85dcd91c","COSMIC":"COSM6085758;COSM6085759","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"309","Hugo_Symbol":"NCKAP1L","Entrez_Gene_Id":3071,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr12","Start_Position":54526573,"End_Position":54526573,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"G","Tumor_Sample_Barcode":"TCGA-50-5930-01A-11D-1753-08","Matched_Norm_Sample_Barcode":"TCGA-50-5930-11A-01D-1753-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"bd3e88b3-b37c-4641-85fa-d8125ba324ca","Matched_Norm_Sample_UUID":"99a809f8-c87d-4d0a-a5d5-29918228b48f","HGVSc":"c.2202C>G","HGVSp":"p.Ile734Met","HGVSp_Short":"p.I734M","Transcript_ID":"ENST00000293373","Exon_Number":"21/31","t_depth":70,"t_ref_count":57,"t_alt_count":13,"n_depth":79,"all_effects":"NCKAP1L,missense_variant,p.I734M,ENST00000293373,NM_005337.5,c.2202C>G,MODERATE,YES,deleterious(0),probably_damaging(0.998),1;NCKAP1L,missense_variant,p.I684M,ENST00000545638,NM_001184976.2,c.2052C>G,MODERATE,,deleterious(0),probably_damaging(0.998),1;NCKAP1L,3_prime_UTR_variant,,ENST00000548221,,c.*907C>G,MODIFIER,,,,1","Allele":"G","Gene":"ENSG00000123338","Feature":"ENST00000293373","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"2240/8980","CDS_position":"2202/3384","Protein_position":"734/1127","Amino_acids":"I/M","Codons":"atC/atG","Existing_variation":"COSV53202887;COSV53205074","TRANSCRIPT_STRAND":1,"SYMBOL":"NCKAP1L","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:4862","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS31813.1","ENSP":"ENSP00000293373","SWISSPROT":"P55160.153","UNIPARC":"UPI00001C0439","UNIPROT_ISOFORM":"P55160-1","RefSeq":"NM_005337.5","MANE":"NM_005337.5","APPRIS":"P1","SIFT":"deleterious(0)","PolyPhen":"probably_damaging(0.998)","EXON":"21/31","DOMAINS":"PANTHER:PTHR12093:SF9;PANTHER:PTHR12093;Pfam:PF09735","SOMATIC":"1;1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1;1","CONTEXT":"GAGATCGTACG","tumor_bam_uuid":"c490b081-c6d9-42bc-aefa-458c8e4cb5cc","normal_bam_uuid":"ec893dbc-40ac-476b-96c3-f705937275e5","case_id":"368e23f0-e573-4547-bf5a-14080baf737b","COSMIC":"COSM6137248","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"202","Hugo_Symbol":"MUC16","Entrez_Gene_Id":94025,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr19","Start_Position":8949338,"End_Position":8949338,"Strand":"+","Variant_Classification":"Silent","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"T","Tumor_Sample_Barcode":"TCGA-78-7155-01A-11D-2036-08","Matched_Norm_Sample_Barcode":"TCGA-78-7155-10A-01D-2036-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"cf7882fa-4343-4c32-8940-2fc85cfb4c6e","Matched_Norm_Sample_UUID":"14233f2d-dd7b-4330-a079-0f7158397e28","HGVSc":"c.27432C>A","HGVSp":"p.Ala9144=","HGVSp_Short":"p.A9144=","Transcript_ID":"ENST00000397910","Exon_Number":"3/84","t_depth":27,"t_ref_count":8,"t_alt_count":19,"n_depth":26,"all_effects":"MUC16,synonymous_variant,p.A9144=,ENST00000397910,NM_024690.2,c.27432C>A,LOW,YES,,,-1","Allele":"T","Gene":"ENSG00000181143","Feature":"ENST00000397910","Feature_type":"Transcript","One_Consequence":"synonymous_variant","Consequence":"synonymous_variant","cDNA_position":"27636/43816","CDS_position":"27432/43524","Protein_position":"9144/14507","Amino_acids":"A","Codons":"gcC/gcA","Existing_variation":"COSV101199846;COSV67468836","TRANSCRIPT_STRAND":-1,"SYMBOL":"MUC16","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:15582","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS54212.1","ENSP":"ENSP00000381008","SWISSPROT":"Q8WXI7.134","UNIPARC":"UPI000065CA24","RefSeq":"NM_024690.2","APPRIS":"P1","EXON":"3/84","DOMAINS":"PANTHER:PTHR14672;Low_complexity_(Seg):seg","SOMATIC":"1;1","IMPACT":"LOW","PICK":1,"VARIANT_CLASS":"SNV","TSL":5,"PHENO":"1;1","GENE_PHENO":"1","CONTEXT":"AAAGAGGCAGA","tumor_bam_uuid":"9b30db3c-976e-4bc8-9de8-6f786f1510ee","normal_bam_uuid":"56d63102-ab57-41ae-9908-d2c93e407d4d","case_id":"fc79086c-af9a-4c27-b074-f7050b6f3381","COSMIC":"COSM6153249;COSM6153250","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"561","Hugo_Symbol":"CWH43","Entrez_Gene_Id":80157,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr4","Start_Position":48994694,"End_Position":48994694,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"T","Tumor_Seq_Allele1":"T","Tumor_Seq_Allele2":"A","dbSNP_RS":"novel","Tumor_Sample_Barcode":"TCGA-17-Z022-01A-01W-0746-08","Matched_Norm_Sample_Barcode":"TCGA-17-Z022-11A-01W-0746-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"7f07e5b3-bf70-4690-84ba-a9eace798a24","Matched_Norm_Sample_UUID":"61862004-a35f-4af5-95c0-ee3de1158131","HGVSc":"c.587T>A","HGVSp":"p.Leu196Gln","HGVSp_Short":"p.L196Q","Transcript_ID":"ENST00000226432","Exon_Number":"5/16","t_depth":146,"t_ref_count":92,"t_alt_count":53,"n_depth":190,"all_effects":"CWH43,missense_variant,p.L196Q,ENST00000226432,NM_025087.3,c.587T>A,MODERATE,YES,deleterious(0.04),benign(0.444),1;CWH43,missense_variant,p.L169Q,ENST00000513409,NM_001286791.1,c.506T>A,MODERATE,,tolerated(0.06),benign(0.444),1;CWH43,missense_variant,p.L196Q,ENST00000514053,,c.587T>A,MODERATE,,deleterious(0.03),benign(0.444),1","Allele":"A","Gene":"ENSG00000109182","Feature":"ENST00000226432","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"742/2444","CDS_position":"587/2100","Protein_position":"196/699","Amino_acids":"L/Q","Codons":"cTg/cAg","TRANSCRIPT_STRAND":1,"SYMBOL":"CWH43","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:26133","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS3486.1","ENSP":"ENSP00000226432","SWISSPROT":"Q9H720.101","UNIPARC":"UPI000020BC89","RefSeq":"NM_025087.3","MANE":"NM_025087.3","APPRIS":"P1","SIFT":"deleterious(0.04)","PolyPhen":"benign(0.444)","EXON":"5/16","DOMAINS":"Transmembrane_helices:TMhelix;PANTHER:PTHR14859;PANTHER:PTHR14859:SF1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"CONTEXT":"CTGGCTGCTGG","tumor_bam_uuid":"1cf92bb6-d15e-4fe2-84d5-b55215b228ad","normal_bam_uuid":"3ae13c21-3d20-4112-adce-46f8c028f0db","case_id":"e44e279b-103e-436e-8988-1139b000bdfd","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"189","Hugo_Symbol":"TTN","Entrez_Gene_Id":7273,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr2","Start_Position":178533561,"End_Position":178533561,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"T","Tumor_Sample_Barcode":"TCGA-05-4410-01A-21D-1855-08","Matched_Norm_Sample_Barcode":"TCGA-05-4410-10A-01D-1855-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"f85d0d42-436b-4251-a7fd-7d0f5fddd397","Matched_Norm_Sample_UUID":"e76567fb-2172-446f-87d3-afc4d7ef2b76","HGVSc":"c.98131C>A","HGVSp":"p.Leu32711Ile","HGVSp_Short":"p.L32711I","Transcript_ID":"ENST00000591111","Exon_Number":"308/313","t_depth":78,"t_ref_count":49,"t_alt_count":29,"n_depth":77,"all_effects":"TTN,missense_variant,p.L34352I,ENST00000589042,NM_001267550.2,c.103054C>A,MODERATE,YES,,benign(0.062),-1;TTN,missense_variant,p.L32711I,ENST00000591111,,c.98131C>A,MODERATE,,,benign(0.062),-1;TTN,missense_variant,p.L31784I,ENST00000342992,NM_133378.4&NM_001256850.1,c.95350C>A,MODERATE,,,benign(0.028),-1;TTN,missense_variant,p.L25287I,ENST00000460472,NM_003319.4,c.75859C>A,MODERATE,,,benign(0.028),-1;TTN,missense_variant,p.L25479I,ENST00000342175,NM_133437.4,c.76435C>A,MODERATE,,,,-1;TTN,missense_variant,p.L25412I,ENST00000359218,NM_133432.3,c.76234C>A,MODERATE,,,benign(0.028),-1;TTN-AS1,intron_variant,,ENST00000419746,,n.220-2171G>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000431259,,n.825+1983G>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000450692,,n.75-2171G>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000456053,,n.413+9925G>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000585358,,n.127-2171G>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000585451,,n.198+9925G>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000585487,,n.261-2171G>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000586452,,n.74+4748G>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000586707,,n.345+9925G>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000586831,,n.74+4748G>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000588244,,n.339+1983G>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000588257,,n.339+1983G>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000588716,,n.127-2171G>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000588804,,n.436-2171G>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000589391,,n.339+1983G>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000589434,,n.423-4043G>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000589842,,n.339+1983G>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000590040,,n.346-8661G>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000590773,,n.413-2171G>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000590807,,n.74+4748G>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000591332,,n.346-2171G>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000591466,,n.75-2171G>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000591867,,n.75-2171G>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000592182,,n.492-2171G>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000592600,,n.345+9925G>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000592630,,n.346-4043G>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000592689,,n.75-2171G>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000592750,,n.345+9925G>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000592836,,n.75-2171G>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000620591,,n.339+1983G>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000625480,,n.49+4748G>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000626117,,n.74+4748G>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000626138,,n.49+4748G>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000626954,,n.74+4748G>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000628296,,n.49+4748G>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000628826,,n.49+4748G>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000630096,,n.551+4748G>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000653807,,n.219+9925G>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000657023,,n.118+9925G>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000657210,,n.735+1983G>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000659121,,n.416+9925G>T,MODIFIER,YES,,,1;TTN-AS1,intron_variant,,ENST00000664161,,n.425-2171G>T,MODIFIER,,,,1;TTN-AS1,upstream_gene_variant,,ENST00000415561,,,MODIFIER,,,,1;TTN-AS1,downstream_gene_variant,,ENST00000442329,,,MODIFIER,,,,1;TTN-AS1,downstream_gene_variant,,ENST00000585625,,,MODIFIER,,,,1;TTN-AS1,downstream_gene_variant,,ENST00000587568,,,MODIFIER,,,,1;TTN-AS1,downstream_gene_variant,,ENST00000587944,,,MODIFIER,,,,1;TTN-AS1,downstream_gene_variant,,ENST00000589355,,,MODIFIER,,,,1;TTN-AS1,downstream_gene_variant,,ENST00000604571,,,MODIFIER,,,,1;TTN-AS1,downstream_gene_variant,,ENST00000614124,,,MODIFIER,,,,1;TTN-AS1,upstream_gene_variant,,ENST00000625536,,,MODIFIER,,,,1","Allele":"T","Gene":"ENSG00000155657","Feature":"ENST00000591111","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"98356/104301","CDS_position":"98131/103053","Protein_position":"32711/34350","Amino_acids":"L/I","Codons":"Cta/Ata","Existing_variation":"COSV60195879","TRANSCRIPT_STRAND":-1,"SYMBOL":"TTN","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:12403","BIOTYPE":"protein_coding","ENSP":"ENSP00000465570","SWISSPROT":"Q8WZ42.192","UNIPARC":"UPI00025287CD","UNIPROT_ISOFORM":"Q8WZ42-1","PolyPhen":"benign(0.062)","EXON":"308/313","DOMAINS":"PANTHER:PTHR13817;PANTHER:PTHR13817:SF10;Superfamily:SSF48726","SOMATIC":"1","IMPACT":"MODERATE","VARIANT_CLASS":"SNV","TSL":5,"PHENO":"1","GENE_PHENO":"1","CONTEXT":"GTGTAGGGTTA","tumor_bam_uuid":"6eb276cd-f2bb-4620-bcaa-86681e8f01c9","normal_bam_uuid":"bf59c091-609d-431f-8966-64eaea595038","case_id":"d28e465c-e553-4c53-8bb7-3d8199b9a8a5","COSMIC":"COSM6088991;COSM6088992;COSM6088993;COSM6088994","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"73","Hugo_Symbol":"USP11","Entrez_Gene_Id":8237,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chrX","Start_Position":47247929,"End_Position":47247929,"Strand":"+","Variant_Classification":"Nonstop_Mutation","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"C","Tumor_Sample_Barcode":"TCGA-99-7458-01A-11D-2036-08","Matched_Norm_Sample_Barcode":"TCGA-99-7458-10A-01D-2036-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"6135f346-7be7-4beb-bc56-50a94e439776","Matched_Norm_Sample_UUID":"d8bf0172-63f7-42c6-834d-dd3a53ee3f85","HGVSc":"c.2891G>C","HGVSp":"p.Ter964SerextTer40","HGVSp_Short":"p.*964Sext*40","Transcript_ID":"ENST00000218348","Exon_Number":"21/21","t_depth":26,"t_ref_count":20,"t_alt_count":4,"n_depth":20,"all_effects":"USP11,stop_lost,p.*964Sext*40,ENST00000218348,,c.2891G>C,HIGH,YES,,,1;USP11,stop_lost,p.*921Sext*40,ENST00000377107,NM_001371072.1,c.2762G>C,HIGH,,,,1;USP11,non_coding_transcript_exon_variant,,ENST00000469080,,n.3088G>C,MODIFIER,,,,1;USP11,non_coding_transcript_exon_variant,,ENST00000467378,,n.673G>C,MODIFIER,,,,1;USP11,downstream_gene_variant,,ENST00000480104,,,MODIFIER,,,,1;USP11,downstream_gene_variant,,ENST00000488848,,,MODIFIER,,,,1;USP11,downstream_gene_variant,,ENST00000497179,,,MODIFIER,,,,1","Allele":"C","Gene":"ENSG00000102226","Feature":"ENST00000218348","Feature_type":"Transcript","One_Consequence":"stop_lost","Consequence":"stop_lost","cDNA_position":"2940/3338","CDS_position":"2891/2892","Protein_position":"964/963","Amino_acids":"*/S","Codons":"tGa/tCa","Existing_variation":"COSV54475762","TRANSCRIPT_STRAND":1,"SYMBOL":"USP11","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:12609","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS14277.1","ENSP":"ENSP00000218348","SWISSPROT":"P51784.195","UNIPARC":"UPI0000161434","APPRIS":"P4","EXON":"21/21","SOMATIC":"1","IMPACT":"HIGH","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","CONTEXT":"TAATTGAGAGC","tumor_bam_uuid":"6f1cab11-fa1c-4109-86b9-3428ca46c5c5","normal_bam_uuid":"0e759431-b471-48a0-a4b5-6386d979b634","case_id":"96d93e23-bb0d-46a8-9685-5ed0d6b83059","COSMIC":"COSM6187417","hotspot":"N","RNA_Support":"Unknown","callers":"muse;varscan2"}
{"X1":"198","Hugo_Symbol":"TRPM6","Entrez_Gene_Id":140803,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr9","Start_Position":74808175,"End_Position":74808175,"Strand":"+","Variant_Classification":"Splice_Site","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-64-1676-01A-01D-0969-08","Matched_Norm_Sample_Barcode":"TCGA-64-1676-10A-01D-0969-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"12a3245e-f3d7-470a-a755-3160de5cd48a","Matched_Norm_Sample_UUID":"080c8d6b-3003-415a-a33d-8695a3011adb","HGVSc":"c.1498-1G>T","HGVSp_Short":"p.X500_splice","Transcript_ID":"ENST00000360774","t_depth":104,"t_ref_count":81,"t_alt_count":22,"n_depth":147,"all_effects":"TRPM6,splice_acceptor_variant,p.X500_splice,ENST00000360774,NM_017662.5,c.1498-1G>T,HIGH,YES,,,-1;TRPM6,splice_acceptor_variant,p.X495_splice,ENST00000361255,NM_001177311.1,c.1483-1G>T,HIGH,,,,-1;TRPM6,splice_acceptor_variant,p.X495_splice,ENST00000449912,NM_001177310.1,c.1483-1G>T,HIGH,,,,-1;RPSAP75,downstream_gene_variant,,ENST00000605848,,,MODIFIER,YES,,,1","Allele":"A","Gene":"ENSG00000119121","Feature":"ENST00000360774","Feature_type":"Transcript","One_Consequence":"splice_acceptor_variant","Consequence":"splice_acceptor_variant","Existing_variation":"COSV62508891","TRANSCRIPT_STRAND":-1,"SYMBOL":"TRPM6","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:17995","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS6647.1","ENSP":"ENSP00000354006","SWISSPROT":"Q9BX84.156","UNIPARC":"UPI000006E041","UNIPROT_ISOFORM":"Q9BX84-1","RefSeq":"NM_017662.5","MANE":"NM_017662.5","APPRIS":"P4","INTRON":"13/38","SOMATIC":"1","IMPACT":"HIGH","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","GENE_PHENO":"1","CONTEXT":"GTATGCTGCAA","tumor_bam_uuid":"539a0aea-b717-4d79-9cac-837ca1513fee","normal_bam_uuid":"70aafce0-4cde-4c04-ade9-8ca786ecf5b8","case_id":"fb6b289c-aaf9-4d8e-b6e0-5d35bce1b6e1","GDC_FILTER":"NonExonic","COSMIC":"COSM6116376;COSM6116377;COSM6116378;COSM6116379","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"242","Hugo_Symbol":"ELFN2","Entrez_Gene_Id":114794,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr22","Start_Position":37374099,"End_Position":37374099,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"T","Tumor_Seq_Allele1":"T","Tumor_Seq_Allele2":"C","Tumor_Sample_Barcode":"TCGA-55-1596-01A-01D-1040-01","Matched_Norm_Sample_Barcode":"TCGA-55-1596-11A-01D-1040-01","Mutation_Status":"Somatic","Tumor_Sample_UUID":"30f9f0d3-2500-42e9-ae46-f6fabd818d73","Matched_Norm_Sample_UUID":"f913dee6-7139-469b-b458-bd84986e2295","HGVSc":"c.1436A>G","HGVSp":"p.Glu479Gly","HGVSp_Short":"p.E479G","Transcript_ID":"ENST00000402918","Exon_Number":"3/3","t_depth":240,"t_ref_count":225,"t_alt_count":14,"n_depth":322,"all_effects":"ELFN2,missense_variant,p.E479G,ENST00000402918,NM_052906.5,c.1436A>G,MODERATE,YES,tolerated(0.09),benign(0.042),-1;ELFN2,downstream_gene_variant,,ENST00000414347,,,MODIFIER,,,,-1;ELFN2,downstream_gene_variant,,ENST00000415408,,,MODIFIER,,,,-1;ELFN2,downstream_gene_variant,,ENST00000424973,,,MODIFIER,,,,-1;ELFN2,downstream_gene_variant,,ENST00000435824,,,MODIFIER,,,,-1;ELFN2,downstream_gene_variant,,ENST00000451509,,,MODIFIER,,,,-1;ELFN2,intron_variant,,ENST00000430883,,n.434+10751A>G,MODIFIER,YES,,,-1;ELFN2,intron_variant,,ENST00000452946,,n.149-31396A>G,MODIFIER,,,,-1;Z94160.2,downstream_gene_variant,,ENST00000609322,,,MODIFIER,YES,,,1","Allele":"C","Gene":"ENSG00000166897","Feature":"ENST00000402918","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"2231/8370","CDS_position":"1436/2463","Protein_position":"479/820","Amino_acids":"E/G","Codons":"gAg/gGg","Existing_variation":"COSV68746884","TRANSCRIPT_STRAND":-1,"SYMBOL":"ELFN2","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:29396","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS33642.1","ENSP":"ENSP00000385277","SWISSPROT":"Q5R3F8.133","UNIPARC":"UPI000004E87D","RefSeq":"NM_052906.5","MANE":"NM_052906.5","APPRIS":"P1","SIFT":"tolerated(0.09)","PolyPhen":"benign(0.042)","EXON":"3/3","DOMAINS":"PANTHER:PTHR24373:SF263;PANTHER:PTHR24373","SOMATIC":"1","IMPACT":"MODERATE","VARIANT_CLASS":"SNV","TSL":4,"PHENO":"1","CONTEXT":"GCTTCTCCCCG","tumor_bam_uuid":"1b8e4b4b-f720-4565-9e12-9db0fba4293a","normal_bam_uuid":"152b9a9e-a1d6-48d5-9bd4-c0452048157d","case_id":"199386c2-bb53-4fad-a1b6-59ab216a4a50","COSMIC":"COSM6162328","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2"}
{"X1":"590","Hugo_Symbol":"DUSP10","Entrez_Gene_Id":11221,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr1","Start_Position":221702560,"End_Position":221702560,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-44-2661-01A-01D-1105-08","Matched_Norm_Sample_Barcode":"TCGA-44-2661-10A-01D-1105-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"3c3a2e7c-9aa0-495e-95c7-87f661b9ed92","Matched_Norm_Sample_UUID":"2040f069-44ef-43cf-8ad0-51a6fd583ab6","HGVSc":"c.1301C>T","HGVSp":"p.Ala434Val","HGVSp_Short":"p.A434V","Transcript_ID":"ENST00000366899","Exon_Number":"4/4","t_depth":194,"t_ref_count":176,"t_alt_count":17,"n_depth":156,"all_effects":"DUSP10,missense_variant,p.A434V,ENST00000366899,NM_007207.6,c.1301C>T,MODERATE,YES,tolerated(0.06),possibly_damaging(0.879),-1;DUSP10,3_prime_UTR_variant,,ENST00000468085,,c.*262C>T,MODIFIER,,,,-1;DUSP10,3_prime_UTR_variant,,ENST00000477026,,c.*262C>T,MODIFIER,,,,-1;DUSP10,3_prime_UTR_variant,,ENST00000494642,,c.*262C>T,MODIFIER,,,,-1","Allele":"A","Gene":"ENSG00000143507","Feature":"ENST00000366899","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"1453/2589","CDS_position":"1301/1449","Protein_position":"434/482","Amino_acids":"A/V","Codons":"gCt/gTt","Existing_variation":"COSV60459908","TRANSCRIPT_STRAND":-1,"SYMBOL":"DUSP10","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:3065","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS1528.1","ENSP":"ENSP00000355866","SWISSPROT":"Q9Y6W6.180","UNIPARC":"UPI000003473B","UNIPROT_ISOFORM":"Q9Y6W6-1","RefSeq":"NM_007207.6","MANE":"NM_007207.6","APPRIS":"P1","SIFT":"tolerated(0.06)","PolyPhen":"possibly_damaging(0.879)","EXON":"4/4","DOMAINS":"PDB-ENSP_mappings:1zzw.A;PDB-ENSP_mappings:1zzw.B;PDB-ENSP_mappings:2oud.A;Gene3D:3.90.190.10;Pfam:PF00782;PROSITE_profiles:PS50054;PROSITE_profiles:PS50056;PANTHER:PTHR10159;PANTHER:PTHR10159:SF299;SMART:SM00195;Superfamily:SSF52799;CDD:cd14567","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","CONTEXT":"TATAAGCATCA","tumor_bam_uuid":"80c6fd83-b0a8-4ddc-b55c-ebe18fa27f9b","normal_bam_uuid":"72d7e7b9-907d-4e6f-bf17-b76b1eceef5e","case_id":"f3501466-cf32-4866-b5fb-e94dd32341bc","COSMIC":"COSM6061774","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2"}
{"X1":"343","Hugo_Symbol":"SHANK3","Entrez_Gene_Id":85358,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr22","Start_Position":50704972,"End_Position":50704972,"Strand":"+","Variant_Classification":"Silent","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"T","Tumor_Sample_Barcode":"TCGA-44-2656-01A-02W-0928-08","Matched_Norm_Sample_Barcode":"TCGA-44-2656-10A-01D-0969-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"b2773f71-23ca-4f92-99cb-1452846a1b36","Matched_Norm_Sample_UUID":"03b8420d-480f-48e1-88a7-8ee9917049a6","HGVSc":"c.1884G>T","HGVSp":"p.Gly628=","HGVSp_Short":"p.G628=","Transcript_ID":"ENST00000445220","Exon_Number":"17/23","t_depth":42,"t_ref_count":34,"t_alt_count":8,"n_depth":245,"all_effects":"SHANK3,synonymous_variant,p.G502=,ENST00000262795,,c.1506G>T,LOW,,,,1;SHANK3,synonymous_variant,p.G628=,ENST00000445220,NM_001372044.2,c.1884G>T,LOW,YES,,,1;SHANK3,upstream_gene_variant,,ENST00000664402,,,MODIFIER,,,,1;SHANK3,non_coding_transcript_exon_variant,,ENST00000414786,,n.2090G>T,MODIFIER,,,,1;SHANK3,downstream_gene_variant,,ENST00000673838,,,MODIFIER,,,,1;SHANK3,synonymous_variant,p.G621=,ENST00000673971,,c.1863G>T,LOW,,,,1;SHANK3,downstream_gene_variant,,ENST00000673995,,,MODIFIER,,,,1;SHANK3,downstream_gene_variant,,ENST00000674010,,,MODIFIER,,,,1;SHANK3,downstream_gene_variant,,ENST00000674145,,,MODIFIER,,,,1","Allele":"T","Gene":"ENSG00000251322","Feature":"ENST00000445220","Feature_type":"Transcript","One_Consequence":"synonymous_variant","Consequence":"synonymous_variant","cDNA_position":"1884/5175","CDS_position":"1884/5175","Protein_position":"628/1724","Amino_acids":"G","Codons":"ggG/ggT","Existing_variation":"COSV53184255;COSV99437890","TRANSCRIPT_STRAND":1,"SYMBOL":"SHANK3","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:14294","BIOTYPE":"protein_coding","CANONICAL":"YES","ENSP":"ENSP00000489407","TREMBL":"A0A0U1RR93.35","UNIPARC":"UPI00071AFB15","RefSeq":"NM_001372044.2","APPRIS":"P1","EXON":"17/23","DOMAINS":"Gene3D:2.30.42.10;Pfam:PF17820;PROSITE_profiles:PS50106;PANTHER:PTHR24135;PANTHER:PTHR24135:SF4;SMART:SM00228;Superfamily:SSF50156;CDD:cd00992;Low_complexity_(Seg):seg","SOMATIC":"1;1","IMPACT":"LOW","PICK":1,"VARIANT_CLASS":"SNV","TSL":5,"PHENO":"1;1","GENE_PHENO":"1","CONTEXT":"AACGGGGTGAA","tumor_bam_uuid":"3543b887-5dbd-4038-b787-d7a6cb73842a","normal_bam_uuid":"ada4ffdf-3ba5-4ad0-8eb4-634d04b2b9b8","case_id":"42ca54fc-c1ae-41cd-bca1-7fe9810db460","COSMIC":"COSM6095500","hotspot":"N","RNA_Support":"Unknown","callers":"mutect2;varscan2"}
{"X1":"329","Hugo_Symbol":"KLF17","Entrez_Gene_Id":128209,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr1","Start_Position":44129920,"End_Position":44129920,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-44-6775-01A-31D-A27T-08","Matched_Norm_Sample_Barcode":"TCGA-44-6775-10A-01D-1855-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"48be4967-ee28-4adb-9f67-795e6088904b","Matched_Norm_Sample_UUID":"a614b2ce-3d15-4aa0-8403-1427e7ccf847","HGVSc":"c.649G>A","HGVSp":"p.Ala217Thr","HGVSp_Short":"p.A217T","Transcript_ID":"ENST00000372299","Exon_Number":"2/4","t_depth":100,"t_ref_count":75,"t_alt_count":25,"n_depth":68,"all_effects":"KLF17,missense_variant,p.A217T,ENST00000372299,NM_173484.4,c.649G>A,MODERATE,YES,tolerated(0.15),benign(0),1;KLF17,intron_variant,,ENST00000476802,,c.290-114G>A,MODIFIER,,,,1","Allele":"A","Gene":"ENSG00000171872","Feature":"ENST00000372299","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"736/3160","CDS_position":"649/1170","Protein_position":"217/389","Amino_acids":"A/T","Codons":"Gcc/Acc","Existing_variation":"COSV64857036","TRANSCRIPT_STRAND":1,"SYMBOL":"KLF17","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:18830","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS508.1","ENSP":"ENSP00000361373","SWISSPROT":"Q5JT82.131","UNIPARC":"UPI000013E95E","RefSeq":"NM_173484.4","MANE":"NM_173484.4","APPRIS":"P1","SIFT":"tolerated(0.15)","PolyPhen":"benign(0)","EXON":"2/4","DOMAINS":"PANTHER:PTHR23235;PANTHER:PTHR23235:SF74","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","CONTEXT":"AAGATGCCCAT","tumor_bam_uuid":"686d3157-89be-4d5a-a3af-9c304fa4bd2b","normal_bam_uuid":"6653374b-e8bb-4844-b53f-aaae62713ff5","case_id":"3c4ff061-d214-4d1c-8d2e-3034f207c252","COSMIC":"COSM6063454;COSM6063455","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"258","Hugo_Symbol":"NUP210L","Entrez_Gene_Id":91181,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr1","Start_Position":154139919,"End_Position":154139919,"Strand":"+","Variant_Classification":"Silent","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-38-4626-01A-01D-1553-08","Matched_Norm_Sample_Barcode":"TCGA-38-4626-11A-01D-1553-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"85b56ce7-b420-433e-a77d-43ef628d685c","Matched_Norm_Sample_UUID":"4443344e-b4c7-48a7-9b46-05fbe1c32326","HGVSc":"c.600C>T","HGVSp":"p.Pro200=","HGVSp_Short":"p.P200=","Transcript_ID":"ENST00000368559","Exon_Number":"5/40","t_depth":669,"t_ref_count":639,"t_alt_count":30,"n_depth":492,"all_effects":"NUP210L,synonymous_variant,p.P200=,ENST00000368559,NM_207308.2,c.600C>T,LOW,YES,,,-1;NUP210L,synonymous_variant,p.P200=,ENST00000271854,NM_001159484.1,c.600C>T,LOW,,,,-1","Allele":"A","Gene":"ENSG00000143552","Feature":"ENST00000368559","Feature_type":"Transcript","One_Consequence":"synonymous_variant","Consequence":"synonymous_variant","cDNA_position":"672/5889","CDS_position":"600/5667","Protein_position":"200/1888","Amino_acids":"P","Codons":"ccC/ccT","Existing_variation":"COSV55155231","TRANSCRIPT_STRAND":-1,"SYMBOL":"NUP210L","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:29915","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS41399.1","ENSP":"ENSP00000357547","SWISSPROT":"Q5VU65.123","UNIPARC":"UPI000023724F","UNIPROT_ISOFORM":"Q5VU65-1","RefSeq":"NM_207308.2","APPRIS":"P4","EXON":"5/40","DOMAINS":"PANTHER:PTHR23019;PANTHER:PTHR23019:SF1","SOMATIC":"1","IMPACT":"LOW","PICK":1,"VARIANT_CLASS":"SNV","TSL":5,"PHENO":"1","CONTEXT":"ATTGGGGGAGC","tumor_bam_uuid":"a78245c6-0d94-40d1-bd05-a852b2e116bf","normal_bam_uuid":"7ac9a00b-96fa-4feb-9a24-b727bc483cf3","case_id":"2079155a-d91d-4246-a038-01934a580f32","COSMIC":"COSM6058034","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2"}
{"X1":"353","Hugo_Symbol":"CCM2L","Entrez_Gene_Id":140706,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr20","Start_Position":32014961,"End_Position":32014961,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"T","Tumor_Seq_Allele1":"T","Tumor_Seq_Allele2":"G","Tumor_Sample_Barcode":"TCGA-35-4122-01A-01D-1105-08","Matched_Norm_Sample_Barcode":"TCGA-35-4122-10A-01D-1105-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"408e1cb4-64a8-4801-bf58-3b8183ede851","Matched_Norm_Sample_UUID":"a969f6fd-3d2e-447c-bf05-57c2466b3357","HGVSc":"c.88T>G","HGVSp":"p.Cys30Gly","HGVSp_Short":"p.C30G","Transcript_ID":"ENST00000452892","Exon_Number":"2/10","t_depth":210,"t_ref_count":177,"t_alt_count":32,"n_depth":192,"all_effects":"CCM2L,missense_variant,p.C30G,ENST00000452892,NM_001365692.1,c.88T>G,MODERATE,YES,tolerated(0.43),benign(0),1;CCM2L,missense_variant,p.C30G,ENST00000262659,NM_080625.4,c.88T>G,MODERATE,,tolerated(0.46),benign(0),1;AL031658.1,intron_variant,,ENST00000653258,,n.705-7312A>C,MODIFIER,,,,-1;AL031658.1,intron_variant,,ENST00000662576,,n.816-7312A>C,MODIFIER,,,,-1","Allele":"G","Gene":"ENSG00000101331","Feature":"ENST00000452892","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"105/2599","CDS_position":"88/1716","Protein_position":"30/571","Amino_acids":"C/G","Codons":"Tgt/Ggt","Existing_variation":"COSV52949089","TRANSCRIPT_STRAND":1,"SYMBOL":"CCM2L","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:16153","BIOTYPE":"protein_coding","CANONICAL":"YES","ENSP":"ENSP00000392448","SWISSPROT":"Q9NUG4.137","UNIPARC":"UPI00001AAC44","UNIPROT_ISOFORM":"Q9NUG4-1","RefSeq":"NM_001365692.1","MANE":"NM_001365692.1","APPRIS":"P1","SIFT":"tolerated(0.43)","PolyPhen":"benign(0)","EXON":"2/10","DOMAINS":"PANTHER:PTHR21642;PANTHER:PTHR21642:SF2;Low_complexity_(Seg):seg","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":2,"PHENO":"1","CONTEXT":"CAGCCTGTAGG","tumor_bam_uuid":"1d1f87ac-6183-42b4-ae1c-0473d11c85c4","normal_bam_uuid":"0b21e21f-0de1-4c8c-9ca2-fa44a82262c5","case_id":"44adf4cb-2829-4153-80fd-a8b7ee0e654a","COSMIC":"COSM6092877;COSM6092878","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"142","Hugo_Symbol":"FAAP24","Entrez_Gene_Id":91442,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr19","Start_Position":32974090,"End_Position":32974090,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"C","Tumor_Sample_Barcode":"TCGA-44-2668-01A-01D-0969-08","Matched_Norm_Sample_Barcode":"TCGA-44-2668-10A-01D-1489-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"6c2e16fe-c221-40e2-a173-e7ec57506528","Matched_Norm_Sample_UUID":"bf763792-789b-47d2-b4fd-1dbcaf7467ab","HGVSc":"c.274G>C","HGVSp":"p.Glu92Gln","HGVSp_Short":"p.E92Q","Transcript_ID":"ENST00000588258","Exon_Number":"4/5","t_depth":94,"t_ref_count":81,"t_alt_count":13,"n_depth":121,"all_effects":"FAAP24,missense_variant,p.E92Q,ENST00000588258,NM_152266.5,c.274G>C,MODERATE,YES,tolerated(0.05),probably_damaging(0.996),1;FAAP24,missense_variant,p.E92Q,ENST00000590281,,c.274G>C,MODERATE,,tolerated(0.05),probably_damaging(0.996),1;FAAP24,5_prime_UTR_variant,,ENST00000589646,,c.-12G>C,MODIFIER,,,,1;FAAP24,5_prime_UTR_variant,,ENST00000590179,NM_001300978.2,c.-12G>C,MODIFIER,,,,1;RHPN2,downstream_gene_variant,,ENST00000254260,NM_033103.5,,MODIFIER,YES,,,-1;CEP89,upstream_gene_variant,,ENST00000305768,NM_032816.5,,MODIFIER,YES,,,-1;CEP89,upstream_gene_variant,,ENST00000590597,,,MODIFIER,,,,-1;CEP89,upstream_gene_variant,,ENST00000591863,,,MODIFIER,,,,-1;FAAP24,upstream_gene_variant,,ENST00000591791,,,MODIFIER,,,,1;CEP89,upstream_gene_variant,,ENST00000592401,,,MODIFIER,,,,-1;FAAP24,3_prime_UTR_variant,,ENST00000254262,,c.*6G>C,MODIFIER,,,,1;RHPN2,downstream_gene_variant,,ENST00000544458,,,MODIFIER,,,,-1;CEP89,upstream_gene_variant,,ENST00000586984,,,MODIFIER,,,,-1;CEP89,upstream_gene_variant,,ENST00000591205,,,MODIFIER,,,,-1","Allele":"C","Gene":"ENSG00000131944","Feature":"ENST00000588258","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"392/2313","CDS_position":"274/648","Protein_position":"92/215","Amino_acids":"E/Q","Codons":"Gaa/Caa","Existing_variation":"COSV54280597","TRANSCRIPT_STRAND":1,"SYMBOL":"FAAP24","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:28467","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS12426.1","ENSP":"ENSP00000466121","SWISSPROT":"Q9BTP7.141","TREMBL":"A0A0S2Z5V6.20","UNIPARC":"UPI000007380F","RefSeq":"NM_152266.5","MANE":"NM_152266.5","APPRIS":"P1","SIFT":"tolerated(0.05)","PolyPhen":"probably_damaging(0.996)","EXON":"4/5","DOMAINS":"PDB-ENSP_mappings:2m9m.A;PDB-ENSP_mappings:4bxo.B;PDB-ENSP_mappings:4m6w.B;PANTHER:PTHR31786;Pfam:PF17949;Gene3D:3.40.50.10130","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","CONTEXT":"TCGTTGAAAAA","tumor_bam_uuid":"e1ea461b-0245-4700-a949-636cd83d8b0a","normal_bam_uuid":"2af16af1-1909-41f8-a008-d1e99138ed46","case_id":"bab43415-d413-40be-a4c0-2c40a52afe6a","COSMIC":"COSM6084614","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"183","Hugo_Symbol":"CSMD3","Entrez_Gene_Id":114788,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr8","Start_Position":112859255,"End_Position":112859255,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-17-Z023-01A-01W-0746-08","Matched_Norm_Sample_Barcode":"TCGA-17-Z023-11A-01W-0746-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"bd72330a-463f-471b-9eba-2f188524e74c","Matched_Norm_Sample_UUID":"5b2bc510-42db-4afa-bce0-c0aee8ef9c00","HGVSc":"c.1645G>T","HGVSp":"p.Gly549Cys","HGVSp_Short":"p.G549C","Transcript_ID":"ENST00000297405","Exon_Number":"11/71","t_depth":69,"t_ref_count":36,"t_alt_count":33,"n_depth":80,"all_effects":"CSMD3,missense_variant,p.G549C,ENST00000297405,NM_001363185.1&NM_198123.2,c.1645G>T,MODERATE,YES,deleterious(0),probably_damaging(0.991),-1;CSMD3,missense_variant,p.G509C,ENST00000343508,NM_198124.2,c.1525G>T,MODERATE,,deleterious(0),probably_damaging(0.967),-1;CSMD3,missense_variant,p.G445C,ENST00000455883,NM_052900.3,c.1333G>T,MODERATE,,deleterious(0),probably_damaging(0.985),-1","Allele":"A","Gene":"ENSG00000164796","Feature":"ENST00000297405","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"1730/13052","CDS_position":"1645/11124","Protein_position":"549/3707","Amino_acids":"G/C","Codons":"Ggc/Tgc","Existing_variation":"COSV99841375","TRANSCRIPT_STRAND":-1,"SYMBOL":"CSMD3","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:19291","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS6315.1","ENSP":"ENSP00000297405","SWISSPROT":"Q7Z407.139","UNIPARC":"UPI00001E0584","UNIPROT_ISOFORM":"Q7Z407-1","RefSeq":"NM_001363185.1;NM_198123.2","MANE":"NM_198123.2","APPRIS":"P1","SIFT":"deleterious(0)","PolyPhen":"probably_damaging(0.991)","EXON":"11/71","DOMAINS":"Gene3D:2.60.120.290;Pfam:PF00431;PROSITE_profiles:PS01180;PANTHER:PTHR45656;PANTHER:PTHR45656:SF9;SMART:SM00042;Superfamily:SSF49854;Superfamily:SSF57535;CDD:cd00041","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","GENE_PHENO":"1","CONTEXT":"AGAGCCACACG","tumor_bam_uuid":"439b3899-9828-48b3-be36-31dd2805f870","normal_bam_uuid":"f4dfcb05-c1c9-452c-878b-6ff7bc59e723","case_id":"cf411fc0-0cce-42d2-ae79-24de1a105c05","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"215","Hugo_Symbol":"LRRC66","Entrez_Gene_Id":339977,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr4","Start_Position":52003240,"End_Position":52003240,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"T","Tumor_Sample_Barcode":"TCGA-67-3771-01A-01W-0928-08","Matched_Norm_Sample_Barcode":"TCGA-67-3771-10A-01D-1040-01","Mutation_Status":"Somatic","Tumor_Sample_UUID":"b850bfc1-7926-4bee-a0c4-e6e964765a6b","Matched_Norm_Sample_UUID":"24f1a1ea-733d-45b3-a51b-073807143f78","HGVSc":"c.649G>A","HGVSp":"p.Asp217Asn","HGVSp_Short":"p.D217N","Transcript_ID":"ENST00000343457","Exon_Number":"2/4","t_depth":84,"t_ref_count":53,"t_alt_count":31,"n_depth":121,"all_effects":"LRRC66,missense_variant,p.D217N,ENST00000343457,NM_001024611.3,c.649G>A,MODERATE,YES,tolerated(0.31),possibly_damaging(0.666),-1","Allele":"T","Gene":"ENSG00000188993","Feature":"ENST00000343457","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"656/3327","CDS_position":"649/2643","Protein_position":"217/880","Amino_acids":"D/N","Codons":"Gac/Aac","Existing_variation":"COSV58632560","TRANSCRIPT_STRAND":-1,"SYMBOL":"LRRC66","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:34299","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS43229.1","ENSP":"ENSP00000341944","SWISSPROT":"Q68CR7.121","UNIPARC":"UPI0000425C5B","RefSeq":"NM_001024611.3","APPRIS":"P1","SIFT":"tolerated(0.31)","PolyPhen":"possibly_damaging(0.666)","EXON":"2/4","DOMAINS":"Gene3D:3.80.10.10;Pfam:PF13855;PROSITE_profiles:PS51450;PANTHER:PTHR24366;PANTHER:PTHR24366:SF118;SMART:SM00369;Superfamily:SSF52058","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","CONTEXT":"GAGGTCCTTGA","tumor_bam_uuid":"02908bcd-ff6b-4611-a8b7-b1f7c18073a1","normal_bam_uuid":"930b209a-4ff6-4e76-a78d-fcba988e7330","case_id":"0df573ee-28f0-4244-b434-09e6ca59fbf0","COSMIC":"COSM6100326","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"594","Hugo_Symbol":"HSPG2","Entrez_Gene_Id":3339,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr1","Start_Position":21873390,"End_Position":21873390,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"A","dbSNP_RS":"novel","Tumor_Sample_Barcode":"TCGA-44-2657-01A-01D-1105-08","Matched_Norm_Sample_Barcode":"TCGA-44-2657-10A-01D-1105-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"e3aa9b45-13b9-4b61-a30f-ae3f88466040","Matched_Norm_Sample_UUID":"da5203dd-6288-46be-82cb-6c5f5d4cf129","HGVSc":"c.3778G>T","HGVSp":"p.Gly1260Cys","HGVSp_Short":"p.G1260C","Transcript_ID":"ENST00000374695","Exon_Number":"30/97","t_depth":263,"t_ref_count":224,"t_alt_count":39,"n_depth":256,"all_effects":"HSPG2,missense_variant,p.G1260C,ENST00000374695,NM_005529.7&NM_001291860.2,c.3778G>T,MODERATE,YES,deleterious(0),probably_damaging(1),-1;HSPG2,upstream_gene_variant,,ENST00000644714,,,MODIFIER,,,,-1;HSPG2,missense_variant,p.G115C,ENST00000427897,,c.343G>T,MODERATE,,deleterious(0),probably_damaging(0.998),-1;HSPG2,downstream_gene_variant,,ENST00000480900,,,MODIFIER,,,,-1;HSPG2,downstream_gene_variant,,ENST00000498495,,,MODIFIER,,,,-1","Allele":"A","Gene":"ENSG00000142798","Feature":"ENST00000374695","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"3871/14341","CDS_position":"3778/13176","Protein_position":"1260/4391","Amino_acids":"G/C","Codons":"Ggc/Tgc","TRANSCRIPT_STRAND":-1,"SYMBOL":"HSPG2","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:5273","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS30625.1","ENSP":"ENSP00000363827","SWISSPROT":"P98160.227","UNIPARC":"UPI0000212778","RefSeq":"NM_005529.7;NM_001291860.2","MANE":"NM_005529.7","APPRIS":"P1","SIFT":"deleterious(0)","PolyPhen":"probably_damaging(1)","EXON":"30/97","DOMAINS":"Gene3D:2.10.25.10;Pfam:PF00053;PROSITE_patterns:PS01248;PROSITE_profiles:PS50027;SMART:SM00180;SMART:SM00181;Superfamily:SSF57196;CDD:cd00055","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"GENE_PHENO":"1","CONTEXT":"CTGGCCCTGGC","tumor_bam_uuid":"7c3c952f-7443-44c7-8459-eebdeadb2a61","normal_bam_uuid":"e74fb58f-ba7a-4019-8e3e-7ec8197b799f","case_id":"f40301ba-831e-4afd-9ce8-5f3c1a05ff7e","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"272","Hugo_Symbol":"OR2A2","Entrez_Gene_Id":442361,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr7","Start_Position":144109933,"End_Position":144109933,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-73-A9RS-01A-11D-A410-08","Matched_Norm_Sample_Barcode":"TCGA-73-A9RS-10A-01D-A413-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"7c89393e-6976-44d5-896d-5648b0d092f4","Matched_Norm_Sample_UUID":"3ad125f9-b7cc-4814-b1e8-983a26dcd72c","HGVSc":"c.351G>A","HGVSp":"p.Met117Ile","HGVSp_Short":"p.M117I","Transcript_ID":"ENST00000408979","Exon_Number":"1/1","t_depth":138,"t_ref_count":82,"t_alt_count":56,"n_depth":127,"all_effects":"OR2A2,missense_variant,p.M117I,ENST00000408979,NM_001005480.2,c.351G>A,MODERATE,YES,deleterious(0.01),possibly_damaging(0.902),1","Allele":"A","Gene":"ENSG00000221989","Feature":"ENST00000408979","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"420/1051","CDS_position":"351/957","Protein_position":"117/318","Amino_acids":"M/I","Codons":"atG/atA","Existing_variation":"COSV101286689","TRANSCRIPT_STRAND":1,"SYMBOL":"OR2A2","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:8230","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS43671.1","ENSP":"ENSP00000386209","SWISSPROT":"Q6IF42.137","TREMBL":"A0A126GW45.29","UNIPARC":"UPI0000061E70","RefSeq":"NM_001005480.2","APPRIS":"P1","SIFT":"deleterious(0.01)","PolyPhen":"possibly_damaging(0.902)","EXON":"1/1","DOMAINS":"Transmembrane_helices:TMhelix;PROSITE_profiles:PS50262;CDD:cd15420;PANTHER:PTHR26453:SF598;PANTHER:PTHR26453;PROSITE_patterns:PS00237;Pfam:PF13853;Gene3D:1.20.1070.10;Superfamily:SSF81321;Prints:PR00237","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","PHENO":"1","CONTEXT":"GTGATGTCCTA","tumor_bam_uuid":"2ebbaf59-2d2d-46d9-a3b1-9926c4d982ab","normal_bam_uuid":"9a730bc0-3aa1-496a-8c7a-cc6f3d4320b6","case_id":"2a394996-809f-459f-a647-d209921ccbd2","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"215","Hugo_Symbol":"TCEA2","Entrez_Gene_Id":6919,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr20","Start_Position":64070600,"End_Position":64070600,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"T","Tumor_Sample_Barcode":"TCGA-67-3771-01A-01W-0928-08","Matched_Norm_Sample_Barcode":"TCGA-67-3771-10A-01D-1040-01","Mutation_Status":"Somatic","Tumor_Sample_UUID":"b850bfc1-7926-4bee-a0c4-e6e964765a6b","Matched_Norm_Sample_UUID":"24f1a1ea-733d-45b3-a51b-073807143f78","HGVSc":"c.784G>T","HGVSp":"p.Gly262Cys","HGVSp_Short":"p.G262C","Transcript_ID":"ENST00000343484","Exon_Number":"8/10","t_depth":19,"t_ref_count":9,"t_alt_count":10,"n_depth":43,"all_effects":"TCEA2,missense_variant,p.G235C,ENST00000361317,NM_198723.2,c.703G>T,MODERATE,,deleterious(0),probably_damaging(0.99),1;TCEA2,missense_variant,p.G262C,ENST00000343484,NM_003195.6,c.784G>T,MODERATE,YES,deleterious(0),probably_damaging(0.99),1;TCEA2,missense_variant,p.G235C,ENST00000440819,,c.703G>T,MODERATE,,deleterious(0),probably_damaging(0.99),1;TCEA2,missense_variant,p.G235C,ENST00000339217,,c.703G>T,MODERATE,,deleterious(0),probably_damaging(0.99),1;TCEA2,missense_variant,p.G235C,ENST00000458442,,c.703G>T,MODERATE,,deleterious(0),probably_damaging(0.99),1;TCEA2,3_prime_UTR_variant,,ENST00000395053,,c.*567G>T,MODIFIER,,,,1;RGS19,downstream_gene_variant,,ENST00000332298,NM_001039467.2,,MODIFIER,,,,-1;RGS19,downstream_gene_variant,,ENST00000395042,NM_005873.3,,MODIFIER,YES,,,-1;TCEA2,downstream_gene_variant,,ENST00000415602,,,MODIFIER,,,,1;TCEA2,non_coding_transcript_exon_variant,,ENST00000465111,,n.2076G>T,MODIFIER,,,,1;TCEA2,non_coding_transcript_exon_variant,,ENST00000461072,,n.310G>T,MODIFIER,,,,1;TCEA2,non_coding_transcript_exon_variant,,ENST00000475236,,n.199G>T,MODIFIER,,,,1;TCEA2,non_coding_transcript_exon_variant,,ENST00000495168,,n.387G>T,MODIFIER,,,,1;TCEA2,non_coding_transcript_exon_variant,,ENST00000465433,,n.349G>T,MODIFIER,,,,1;TCEA2,non_coding_transcript_exon_variant,,ENST00000477783,,n.324G>T,MODIFIER,,,,1;TCEA2,downstream_gene_variant,,ENST00000470559,,,MODIFIER,,,,1;TCEA2,downstream_gene_variant,,ENST00000487164,,,MODIFIER,,,,1;RGS19,downstream_gene_variant,,ENST00000493165,,,MODIFIER,,,,-1","Allele":"T","Gene":"ENSG00000171703","Feature":"ENST00000343484","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"899/1182","CDS_position":"784/900","Protein_position":"262/299","Amino_acids":"G/C","Codons":"Ggc/Tgc","Existing_variation":"COSV58657383;COSV58659720","TRANSCRIPT_STRAND":1,"SYMBOL":"TCEA2","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:11614","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS13553.1","ENSP":"ENSP00000343515","SWISSPROT":"Q15560.184","TREMBL":"Q6IB64.131","UNIPARC":"UPI0000136AC0","UNIPROT_ISOFORM":"Q15560-1","RefSeq":"NM_003195.6","MANE":"NM_003195.6","APPRIS":"P1","SIFT":"deleterious(0)","PolyPhen":"probably_damaging(0.99)","EXON":"8/10","DOMAINS":"PROSITE_profiles:PS51133;CDD:cd13749;PANTHER:PTHR11477:SF3;PANTHER:PTHR11477;PROSITE_patterns:PS00466;Pfam:PF01096;Gene3D:2.20.25.10;TIGRFAM:TIGR01385;PIRSF:PIRSF006704;SMART:SM00440;Superfamily:SSF57783","SOMATIC":"1;1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1;1","CONTEXT":"CCTGCGGCAAG","tumor_bam_uuid":"02908bcd-ff6b-4611-a8b7-b1f7c18073a1","normal_bam_uuid":"930b209a-4ff6-4e76-a78d-fcba988e7330","case_id":"0df573ee-28f0-4244-b434-09e6ca59fbf0","COSMIC":"COSM6094061","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2"}
{"X1":"504","Hugo_Symbol":"SCAF4","Entrez_Gene_Id":57466,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr21","Start_Position":31701075,"End_Position":31701075,"Strand":"+","Variant_Classification":"Nonsense_Mutation","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"A","dbSNP_RS":"novel","Tumor_Sample_Barcode":"TCGA-17-Z001-01A-01W-0746-08","Matched_Norm_Sample_Barcode":"TCGA-17-Z001-11A-01W-0746-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"d5e77555-9412-4e64-a6aa-65c996e3d521","Matched_Norm_Sample_UUID":"7d924dfd-11ca-4f47-b095-13685722d7ef","HGVSc":"c.697C>T","HGVSp":"p.Gln233Ter","HGVSp_Short":"p.Q233*","Transcript_ID":"ENST00000286835","Exon_Number":"7/20","t_depth":62,"t_ref_count":44,"t_alt_count":18,"n_depth":89,"all_effects":"SCAF4,stop_gained,p.Q233*,ENST00000286835,NM_020706.2,c.697C>T,HIGH,YES,,,-1;SCAF4,stop_gained,p.Q233*,ENST00000399804,NM_001145445.1,c.697C>T,HIGH,,,,-1;SCAF4,stop_gained,p.Q218*,ENST00000434667,NM_001145444.1,c.652C>T,HIGH,,,,-1;SCAF4,non_coding_transcript_exon_variant,,ENST00000467731,,n.145C>T,MODIFIER,,,,-1;SCAF4,non_coding_transcript_exon_variant,,ENST00000485790,,n.966C>T,MODIFIER,,,,-1","Allele":"A","Gene":"ENSG00000156304","Feature":"ENST00000286835","Feature_type":"Transcript","One_Consequence":"stop_gained","Consequence":"stop_gained","cDNA_position":"1123/4269","CDS_position":"697/3444","Protein_position":"233/1147","Amino_acids":"Q/*","Codons":"Cag/Tag","TRANSCRIPT_STRAND":-1,"SYMBOL":"SCAF4","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:19304","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS33537.1","ENSP":"ENSP00000286835","SWISSPROT":"O95104.172","UNIPARC":"UPI0000206D66","UNIPROT_ISOFORM":"O95104-1","RefSeq":"NM_020706.2","MANE":"NM_020706.2","APPRIS":"P3","EXON":"7/20","DOMAINS":"PANTHER:PTHR23140;PANTHER:PTHR23140:SF3","IMPACT":"HIGH","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"CONTEXT":"TAACTGAGCTG","tumor_bam_uuid":"e1c8e53f-a731-4e07-8f51-811784396315","normal_bam_uuid":"5bd82e30-f221-41b4-ac58-0e3cc27abc21","case_id":"aebd0313-23be-46a8-abc6-b16c531c3a8e","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"25","Hugo_Symbol":"COL5A1","Entrez_Gene_Id":1289,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr9","Start_Position":134811374,"End_Position":134811374,"Strand":"+","Variant_Classification":"Silent","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"T","dbSNP_RS":"rs766961124","Tumor_Sample_Barcode":"TCGA-99-8032-01A-11D-2238-08","Matched_Norm_Sample_Barcode":"TCGA-99-8032-10A-01D-2238-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"786ce01c-7fa6-45de-b942-750d265d0430","Matched_Norm_Sample_UUID":"1d500b69-b176-4d0e-acb3-1603dea479c5","HGVSc":"c.3564C>T","HGVSp":"p.Ile1188=","HGVSp_Short":"p.I1188=","Transcript_ID":"ENST00000371817","Exon_Number":"45/66","t_depth":268,"t_ref_count":201,"t_alt_count":67,"n_depth":242,"all_effects":"COL5A1,synonymous_variant,p.I1188=,ENST00000371817,NM_000093.5,c.3564C>T,LOW,YES,,,1;COL5A1,synonymous_variant,p.I1188=,ENST00000618395,NM_001278074.1,c.3564C>T,LOW,,,,1;COL5A1,downstream_gene_variant,,ENST00000463925,,,MODIFIER,,,,1","Allele":"T","Gene":"ENSG00000130635","Feature":"ENST00000371817","Feature_type":"Transcript","One_Consequence":"synonymous_variant","Consequence":"synonymous_variant","cDNA_position":"3949/8442","CDS_position":"3564/5517","Protein_position":"1188/1838","Amino_acids":"I","Codons":"atC/atT","Existing_variation":"rs766961124;COSV65668398","TRANSCRIPT_STRAND":1,"SYMBOL":"COL5A1","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:2209","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS6982.1","ENSP":"ENSP00000360882","SWISSPROT":"P20908.216","TREMBL":"A0A024R8E5.45","UNIPARC":"UPI0000210EE3","UNIPROT_ISOFORM":"P20908-1","RefSeq":"NM_000093.5","MANE":"NM_000093.5","APPRIS":"P3","EXON":"45/66","DOMAINS":"PANTHER:PTHR24023;PANTHER:PTHR24023:SF387;Low_complexity_(Seg):seg","gnomAD_AF":"1.988e-05","gnomAD_AFR_AF":"0","gnomAD_AMR_AF":"8.673e-05","gnomAD_ASJ_AF":"0","gnomAD_EAS_AF":"0","gnomAD_FIN_AF":"0","gnomAD_NFE_AF":"8.79e-06","gnomAD_OTH_AF":"0","gnomAD_SAS_AF":"3.266e-05","MAX_AF":"8.673e-05","MAX_AF_POPS":"gnomAD_AMR","gnomAD_non_cancer_AF":"6.76790978104691e-06","gnomAD_non_cancer_AFR_AF":"0","gnomAD_non_cancer_AMI_AF":"0","gnomAD_non_cancer_AMR_AF":"6.63042010273784e-05","gnomAD_non_cancer_ASJ_AF":"0","gnomAD_non_cancer_EAS_AF":"0","gnomAD_non_cancer_FIN_AF":"0","gnomAD_non_cancer_MID_AF":"0","gnomAD_non_cancer_NFE_AF":"0","gnomAD_non_cancer_OTH_AF":"0","gnomAD_non_cancer_SAS_AF":"0","CLIN_SIG":"likely_benign;uncertain_significance","SOMATIC":"0;1","IMPACT":"LOW","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1;1","GENE_PHENO":"1","CONTEXT":"CCCATCGGACA","tumor_bam_uuid":"2d10a7d3-630d-468b-84fe-653faef1f262","normal_bam_uuid":"c7ced99d-9586-40ec-9caf-edb7e41fddb8","case_id":"7e83f9dd-b038-497b-a113-a55605398b7b","COSMIC":"COSM6182589","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"264","Hugo_Symbol":"PELI2","Entrez_Gene_Id":57161,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr14","Start_Position":56178375,"End_Position":56178375,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"A","Tumor_Seq_Allele1":"A","Tumor_Seq_Allele2":"G","Tumor_Sample_Barcode":"TCGA-38-4631-01A-01D-1753-08","Matched_Norm_Sample_Barcode":"TCGA-38-4631-11A-01D-1753-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"b3ffc36d-b0b8-4ada-a00a-b48890c0162c","Matched_Norm_Sample_UUID":"84b00131-cbbe-461f-a006-5277e14b05f9","HGVSc":"c.118A>G","HGVSp":"p.Lys40Glu","HGVSp_Short":"p.K40E","Transcript_ID":"ENST00000267460","Exon_Number":"2/6","t_depth":87,"t_ref_count":72,"t_alt_count":15,"n_depth":81,"all_effects":"PELI2,missense_variant,p.K40E,ENST00000267460,NM_021255.3,c.118A>G,MODERATE,YES,deleterious(0.02),possibly_damaging(0.492),1;PELI2,5_prime_UTR_variant,,ENST00000559044,,c.-183A>G,MODIFIER,,,,1;PELI2,5_prime_UTR_variant,,ENST00000561019,,c.-183A>G,MODIFIER,,,,1","Allele":"G","Gene":"ENSG00000139946","Feature":"ENST00000267460","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"368/5871","CDS_position":"118/1263","Protein_position":"40/420","Amino_acids":"K/E","Codons":"Aaa/Gaa","Existing_variation":"COSV50715381","TRANSCRIPT_STRAND":1,"SYMBOL":"PELI2","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:8828","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS9726.1","ENSP":"ENSP00000267460","SWISSPROT":"Q9HAT8.142","UNIPARC":"UPI0000062262","RefSeq":"NM_021255.3","MANE":"NM_021255.3","APPRIS":"P1","SIFT":"deleterious(0.02)","PolyPhen":"possibly_damaging(0.492)","EXON":"2/6","DOMAINS":"PDB-ENSP_mappings:3ega.A;PDB-ENSP_mappings:3egb.A;PDB-ENSP_mappings:3egb.B;PANTHER:PTHR12098;PANTHER:PTHR12098:SF5;PIRSF:PIRSF038886;Pfam:PF04710","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","CONTEXT":"GGAGGAAAAGT","tumor_bam_uuid":"f22f314a-e8c4-4560-a771-d0764990e4f6","normal_bam_uuid":"a4d8cd71-78af-4cda-97d3-22fc5d8a9cba","case_id":"2483621a-4db3-41ab-aa33-b9427ea8a0af","COSMIC":"COSM6076071","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"325","Hugo_Symbol":"CUX1","Entrez_Gene_Id":1523,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr7","Start_Position":102104420,"End_Position":102104420,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"A","Tumor_Seq_Allele1":"A","Tumor_Seq_Allele2":"T","Tumor_Sample_Barcode":"TCGA-95-7567-01A-11D-2063-08","Matched_Norm_Sample_Barcode":"TCGA-95-7567-10A-01D-2063-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"118e528b-c07f-4c32-a2dd-3f098916f81d","Matched_Norm_Sample_UUID":"97f1e89e-69ae-476b-9dba-d46e08f126d1","HGVSc":"c.491A>T","HGVSp":"p.Lys164Met","HGVSp_Short":"p.K164M","Transcript_ID":"ENST00000292535","Exon_Number":"6/24","t_depth":86,"t_ref_count":68,"t_alt_count":18,"n_depth":130,"all_effects":"CUX1,missense_variant,p.K175M,ENST00000360264,NM_001202543.2,c.524A>T,MODERATE,YES,deleterious(0.01),probably_damaging(0.939),1;CUX1,missense_variant,p.K164M,ENST00000292535,NM_181552.4,c.491A>T,MODERATE,,deleterious(0.02),possibly_damaging(0.87),1;CUX1,missense_variant,p.K164M,ENST00000546411,,c.491A>T,MODERATE,,deleterious(0.02),possibly_damaging(0.87),1;CUX1,missense_variant,p.K175M,ENST00000645010,,c.524A>T,MODERATE,,deleterious(0.02),probably_damaging(0.926),1;CUX1,missense_variant,p.K175M,ENST00000646649,,c.524A>T,MODERATE,,deleterious(0.04),probably_damaging(0.999),1;CUX1,missense_variant,p.K164M,ENST00000549414,,c.491A>T,MODERATE,,deleterious(0.02),probably_damaging(0.939),1;CUX1,missense_variant,p.K164M,ENST00000550008,,c.491A>T,MODERATE,,deleterious(0.02),probably_damaging(0.939),1;CUX1,missense_variant,p.K164M,ENST00000556210,,c.491A>T,MODERATE,,deleterious(0.04),probably_damaging(0.939),1;CUX1,missense_variant,p.K175M,ENST00000437600,NM_181500.4,c.524A>T,MODERATE,,deleterious(0),probably_damaging(0.98),1;CUX1,missense_variant,p.K175M,ENST00000292538,,c.524A>T,MODERATE,,deleterious(0),possibly_damaging(0.894),1;CUX1,missense_variant,p.K175M,ENST00000622516,NM_001913.5,c.524A>T,MODERATE,,deleterious(0),possibly_damaging(0.894),1;CUX1,missense_variant,p.K159M,ENST00000547394,NM_001202544.3,c.476A>T,MODERATE,,deleterious(0),probably_damaging(0.983),1;CUX1,missense_variant,p.K129M,ENST00000425244,NM_001202545.3,c.386A>T,MODERATE,,deleterious(0),probably_damaging(0.99),1;CUX1,missense_variant,p.K138M,ENST00000393824,NM_001202546.3,c.413A>T,MODERATE,,deleterious(0),probably_damaging(0.973),1;CUX1,missense_variant,p.K37M,ENST00000465461,,c.110A>T,MODERATE,,deleterious(0),probably_damaging(0.917),1;CUX1,non_coding_transcript_exon_variant,,ENST00000560541,,n.796A>T,MODIFIER,,,,1;CUX1,non_coding_transcript_exon_variant,,ENST00000558836,,n.630A>T,MODIFIER,,,,1;CUX1,non_coding_transcript_exon_variant,,ENST00000606749,,n.562A>T,MODIFIER,,,,1;CUX1,non_coding_transcript_exon_variant,,ENST00000558469,,n.520A>T,MODIFIER,,,,1;CUX1,non_coding_transcript_exon_variant,,ENST00000497815,,n.595A>T,MODIFIER,,,,1;CUX1,upstream_gene_variant,,ENST00000485792,,,MODIFIER,,,,1","Allele":"T","Gene":"ENSG00000257923","Feature":"ENST00000292535","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"505/13723","CDS_position":"491/4518","Protein_position":"164/1505","Amino_acids":"K/M","Codons":"aAg/aTg","Existing_variation":"COSV99472890","TRANSCRIPT_STRAND":1,"SYMBOL":"CUX1","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:2557","BIOTYPE":"protein_coding","CCDS":"CCDS5721.1","ENSP":"ENSP00000292535","SWISSPROT":"P39880.190","UNIPARC":"UPI0000246CDF","UNIPROT_ISOFORM":"P39880-1","RefSeq":"NM_181552.4","MANE":"NM_181552.4","APPRIS":"A2","SIFT":"deleterious(0.02)","PolyPhen":"possibly_damaging(0.87)","EXON":"6/24","DOMAINS":"Coiled-coils_(Ncoils):Coil;PANTHER:PTHR14043;PANTHER:PTHR14043:SF4","SOMATIC":"1","IMPACT":"MODERATE","VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","GENE_PHENO":"1","CONTEXT":"TGAGAAGGAAC","tumor_bam_uuid":"ae16ff91-da07-4aab-a9b6-180e0e9d510e","normal_bam_uuid":"60329fff-6ee8-4d48-9ebb-58fe4a29e714","case_id":"3bc7026f-73f2-418b-bd62-f4768582b790","hotspot":"N","RNA_Support":"Unknown","callers":"muse;varscan2"}
{"X1":"219","Hugo_Symbol":"MYOM3","Entrez_Gene_Id":127294,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr1","Start_Position":24093107,"End_Position":24093107,"Strand":"+","Variant_Classification":"Splice_Region","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"T","dbSNP_RS":"rs1557613549","Tumor_Sample_Barcode":"TCGA-55-8089-01A-11D-2238-08","Matched_Norm_Sample_Barcode":"TCGA-55-8089-10A-01D-2238-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"a5056023-b935-4a18-821b-2ff8562b2c2a","Matched_Norm_Sample_UUID":"4380ca33-2c75-4d97-9112-38a626c1cc6d","HGVSc":"c.930G>A","HGVSp":"p.Gly310=","HGVSp_Short":"p.G310=","Transcript_ID":"ENST00000374434","Exon_Number":"10/37","t_depth":69,"t_ref_count":61,"t_alt_count":8,"n_depth":75,"all_effects":"MYOM3,splice_region_variant,p.G310=,ENST00000374434,NM_152372.4,c.930G>A,LOW,YES,,,-1;MYOM3,splice_region_variant,,ENST00000475306,,n.1135G>A,LOW,,,,-1","Allele":"T","Gene":"ENSG00000142661","Feature":"ENST00000374434","Feature_type":"Transcript","One_Consequence":"splice_region_variant","Consequence":"splice_region_variant;synonymous_variant","cDNA_position":"1053/5760","CDS_position":"930/4314","Protein_position":"310/1437","Amino_acids":"G","Codons":"ggG/ggA","Existing_variation":"rs1557613549;COSV58397809","TRANSCRIPT_STRAND":-1,"SYMBOL":"MYOM3","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:26679","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS41281.1","ENSP":"ENSP00000363557","SWISSPROT":"Q5VTT5.131","UNIPARC":"UPI0000203A5D","UNIPROT_ISOFORM":"Q5VTT5-1","RefSeq":"NM_152372.4","MANE":"NM_152372.4","APPRIS":"P1","EXON":"10/37","DOMAINS":"Gene3D:2.60.40.10;Pfam:PF07679;PROSITE_profiles:PS50835;PANTHER:PTHR13817;PANTHER:PTHR13817:SF89;SMART:SM00409;Superfamily:SSF48726","gnomAD_AF":"4.14e-06","gnomAD_AFR_AF":"0","gnomAD_AMR_AF":"0","gnomAD_ASJ_AF":"0","gnomAD_EAS_AF":"0","gnomAD_FIN_AF":"0","gnomAD_NFE_AF":"0","gnomAD_OTH_AF":"0","gnomAD_SAS_AF":"3.313e-05","MAX_AF":"3.313e-05","MAX_AF_POPS":"gnomAD_SAS","SOMATIC":"0;1","IMPACT":"LOW","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"0;1","CONTEXT":"AGGCTCCCTGT","tumor_bam_uuid":"4eb81955-eeef-4d54-9d97-ddeb3337a1cf","normal_bam_uuid":"da0262c0-f23a-475c-9c8b-80b9c2798d14","case_id":"1070ff27-17c9-43dd-a4f6-daa643eb9123","COSMIC":"COSM6125551;COSM6125552","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"217","Hugo_Symbol":"GOT1","Entrez_Gene_Id":2805,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr10","Start_Position":99406176,"End_Position":99406176,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-86-8054-01A-11D-2238-08","Matched_Norm_Sample_Barcode":"TCGA-86-8054-10A-01D-2238-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"c8fc382c-4d04-4ca7-a289-235957d3bb04","Matched_Norm_Sample_UUID":"ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3","HGVSc":"c.498G>T","HGVSp":"p.Lys166Asn","HGVSp_Short":"p.K166N","Transcript_ID":"ENST00000370508","Exon_Number":"4/9","t_depth":241,"t_ref_count":124,"t_alt_count":117,"n_depth":276,"all_effects":"GOT1,missense_variant,p.K166N,ENST00000370508,NM_002079.3,c.498G>T,MODERATE,YES,tolerated(0.18),benign(0.011),-1;GOT1,upstream_gene_variant,,ENST00000489349,,,MODIFIER,,,,-1","Allele":"A","Gene":"ENSG00000120053","Feature":"ENST00000370508","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"557/1978","CDS_position":"498/1242","Protein_position":"166/413","Amino_acids":"K/N","Codons":"aaG/aaT","Existing_variation":"COSV100981782;COSV65147787","TRANSCRIPT_STRAND":-1,"SYMBOL":"GOT1","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:4432","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS7479.1","ENSP":"ENSP00000359539","SWISSPROT":"P17174.201","TREMBL":"A0A140VK69.21","UNIPARC":"UPI000013CA75","UNIPROT_ISOFORM":"P17174-1","RefSeq":"NM_002079.3","MANE":"NM_002079.3","APPRIS":"P1","SIFT":"tolerated(0.18)","PolyPhen":"benign(0.011)","EXON":"4/9","DOMAINS":"PDB-ENSP_mappings:3ii0.A;PDB-ENSP_mappings:3ii0.B;PDB-ENSP_mappings:3ii0.C;PDB-ENSP_mappings:3ii0.D;PDB-ENSP_mappings:3wzf.A;PDB-ENSP_mappings:6dna.A;PDB-ENSP_mappings:6dna.B;PDB-ENSP_mappings:6dna.C;PDB-ENSP_mappings:6dna.D;PDB-ENSP_mappings:6dna.E;PDB-ENSP_mappings:6dna.F;PDB-ENSP_mappings:6dnb.A;PDB-ENSP_mappings:6dnd.A;PDB-ENSP_mappings:6dnd.B;CDD:cd00609;PANTHER:PTHR11879;PANTHER:PTHR11879:SF3;Gene3D:3.40.640.10;Pfam:PF00155;Gene3D:3.90.1150.10;Superfamily:SSF53383","SOMATIC":"1;1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1;1","GENE_PHENO":"1","CONTEXT":"CCTCTCTTCTC","tumor_bam_uuid":"7e9770dc-54a1-4620-8cec-89c6d382b6c6","normal_bam_uuid":"dc7c635e-16b4-425e-99b0-8650475ea1f2","case_id":"0fe909ea-d52c-4b71-816f-57f62d4a5744","COSMIC":"COSM6128258","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"21","Hugo_Symbol":"KAZN","Entrez_Gene_Id":23254,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr1","Start_Position":15114476,"End_Position":15114476,"Strand":"+","Variant_Classification":"Silent","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-NJ-A55R-01A-11D-A25L-08","Matched_Norm_Sample_Barcode":"TCGA-NJ-A55R-10A-01D-A25L-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"9b923607-b58e-4215-9906-8cfa6301b887","Matched_Norm_Sample_UUID":"212989cb-bf24-4b7b-af52-bbbc977fa035","HGVSc":"c.2169C>A","HGVSp":"p.Pro723=","HGVSp_Short":"p.P723=","Transcript_ID":"ENST00000376030","Exon_Number":"15/15","t_depth":21,"t_ref_count":16,"t_alt_count":5,"n_depth":68,"all_effects":"KAZN,synonymous_variant,p.P811=,ENST00000636203,,c.2433C>A,LOW,YES,,,1;KAZN,synonymous_variant,p.P723=,ENST00000376030,NM_201628.3,c.2169C>A,LOW,,,,1;TMEM51-AS1,non_coding_transcript_exon_variant,,ENST00000310916,,n.4439G>T,MODIFIER,YES,,,-1;TMEM51-AS1,non_coding_transcript_exon_variant,,ENST00000404665,,n.4312G>T,MODIFIER,,,,-1;TMEM51-AS1,downstream_gene_variant,,ENST00000650369,,,MODIFIER,,,,-1;TMEM51-AS1,downstream_gene_variant,,ENST00000669314,,,MODIFIER,,,,-1","Allele":"A","Gene":"ENSG00000189337","Feature":"ENST00000376030","Feature_type":"Transcript","One_Consequence":"synonymous_variant","Consequence":"synonymous_variant","cDNA_position":"2482/6049","CDS_position":"2169/2328","Protein_position":"723/775","Amino_acids":"P","Codons":"ccC/ccA","Existing_variation":"COSV100184416","TRANSCRIPT_STRAND":1,"SYMBOL":"KAZN","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:29173","BIOTYPE":"protein_coding","CCDS":"CCDS152.2","ENSP":"ENSP00000365198","SWISSPROT":"Q674X7.124","UNIPARC":"UPI0000E1E68A","UNIPROT_ISOFORM":"Q674X7-1","RefSeq":"NM_201628.3","MANE":"NM_201628.3","APPRIS":"P4","EXON":"15/15","DOMAINS":"PANTHER:PTHR12776","SOMATIC":"1","IMPACT":"LOW","VARIANT_CLASS":"SNV","TSL":5,"PHENO":"1","CONTEXT":"CTGCCCCTGGG","tumor_bam_uuid":"410de5f4-ee33-4340-a43b-6b5ed36257cd","normal_bam_uuid":"bea9857b-0790-43c7-a516-15ee6b9d47c1","case_id":"7c7d777b-bf00-4c24-97fc-922580d5605f","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"180","Hugo_Symbol":"SLC12A9","Entrez_Gene_Id":56996,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr7","Start_Position":100861415,"End_Position":100861415,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"T","Tumor_Sample_Barcode":"TCGA-49-AARE-01A-11D-A410-08","Matched_Norm_Sample_Barcode":"TCGA-49-AARE-11A-11D-A413-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"9b725f16-ec63-4c7e-8ef1-4306c0b90a5e","Matched_Norm_Sample_UUID":"1531afeb-48e8-4d5f-8ec1-7a3c28cabe34","HGVSc":"c.1367G>T","HGVSp":"p.Trp456Leu","HGVSp_Short":"p.W456L","Transcript_ID":"ENST00000354161","Exon_Number":"11/14","t_depth":124,"t_ref_count":84,"t_alt_count":40,"n_depth":132,"all_effects":"SLC12A9,missense_variant,p.W456L,ENST00000354161,NM_001363494.1&NM_001363493.2&NM_020246.4,c.1367G>T,MODERATE,YES,deleterious(0),probably_damaging(0.98),1;SLC12A9,missense_variant,p.W456L,ENST00000540482,NM_001267812.1,c.1367G>T,MODERATE,,deleterious(0),probably_damaging(0.975),1;SLC12A9,missense_variant,p.W367L,ENST00000415287,NM_001267814.2,c.1100G>T,MODERATE,,deleterious(0),probably_damaging(0.975),1;SLC12A9,downstream_gene_variant,,ENST00000416675,,,MODIFIER,,,,1;SLC12A9,downstream_gene_variant,,ENST00000418037,,,MODIFIER,,,,1;SLC12A9,downstream_gene_variant,,ENST00000461016,,,MODIFIER,,,,1;SLC12A9,downstream_gene_variant,,ENST00000475623,,,MODIFIER,,,,1;SLC12A9,upstream_gene_variant,,ENST00000482184,,,MODIFIER,,,,1;SLC12A9,non_coding_transcript_exon_variant,,ENST00000487651,,n.2680G>T,MODIFIER,,,,1;SLC12A9,non_coding_transcript_exon_variant,,ENST00000467972,,n.2651G>T,MODIFIER,,,,1;SLC12A9,non_coding_transcript_exon_variant,,ENST00000475687,,n.2346G>T,MODIFIER,,,,1;SLC12A9,downstream_gene_variant,,ENST00000448342,,,MODIFIER,,,,1;SLC12A9,downstream_gene_variant,,ENST00000497958,,,MODIFIER,,,,1","Allele":"T","Gene":"ENSG00000146828","Feature":"ENST00000354161","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"1532/3315","CDS_position":"1367/2745","Protein_position":"456/914","Amino_acids":"W/L","Codons":"tGg/tTg","Existing_variation":"COSV99307819","TRANSCRIPT_STRAND":1,"SYMBOL":"SLC12A9","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:17435","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS5707.1","ENSP":"ENSP00000275730","SWISSPROT":"Q9BXP2.143","UNIPARC":"UPI000006CD28","UNIPROT_ISOFORM":"Q9BXP2-1","RefSeq":"NM_001363494.1;NM_001363493.2;NM_020246.4","MANE":"NM_020246.4","APPRIS":"P1","SIFT":"deleterious(0)","PolyPhen":"probably_damaging(0.98)","EXON":"11/14","DOMAINS":"Gene3D:1.20.1740.10;Pfam:PF00324;PANTHER:PTHR11827;PANTHER:PTHR11827:SF98;Transmembrane_helices:TMhelix","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","CONTEXT":"CTCCTGGCACA","tumor_bam_uuid":"bcf6bb91-301c-4bcf-83ad-61c344f03352","normal_bam_uuid":"b9e06873-1fd4-4bad-a5c3-cd0b5c25e26b","case_id":"cd9e70e4-8622-4a07-8646-63f8275c1737","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"615","Hugo_Symbol":"BOD1L1","Entrez_Gene_Id":259282,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr4","Start_Position":13570031,"End_Position":13570031,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-91-6836-01A-21D-1855-08","Matched_Norm_Sample_Barcode":"TCGA-91-6836-11A-01D-1855-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"87045814-366d-4e42-97f2-ad341c620c47","Matched_Norm_Sample_UUID":"101885ac-5c0c-450d-a2f9-7cd40c2a074a","HGVSc":"c.9136G>T","HGVSp":"p.Val3046Leu","HGVSp_Short":"p.V3046L","Transcript_ID":"ENST00000040738","Exon_Number":"26/26","t_depth":32,"t_ref_count":17,"t_alt_count":15,"n_depth":46,"all_effects":"BOD1L1,missense_variant,p.V3046L,ENST00000040738,NM_148894.3,c.9136G>T,MODERATE,YES,tolerated(0.71),benign(0),-1;BOD1L1,missense_variant,p.V202L,ENST00000507943,,c.604G>T,MODERATE,,tolerated(0.73),benign(0.001),-1;BOD1L1,non_coding_transcript_exon_variant,,ENST00000505343,,n.957G>T,MODIFIER,,,,-1","Allele":"A","Gene":"ENSG00000038219","Feature":"ENST00000040738","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"9274/10567","CDS_position":"9136/9156","Protein_position":"3046/3051","Amino_acids":"V/L","Codons":"Gtg/Ttg","Existing_variation":"COSV50006480","TRANSCRIPT_STRAND":-1,"SYMBOL":"BOD1L1","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:31792","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS3411.2","ENSP":"ENSP00000040738","SWISSPROT":"Q8NFC6.134","UNIPARC":"UPI000066D9E3","RefSeq":"NM_148894.3","MANE":"NM_148894.3","APPRIS":"P1","SIFT":"tolerated(0.71)","PolyPhen":"benign(0)","EXON":"26/26","DOMAINS":"Coiled-coils_(Ncoils):Coil;PANTHER:PTHR47391;MobiDB_lite:mobidb-lite","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","CONTEXT":"TTTCACAGGGG","tumor_bam_uuid":"a0624323-699c-4654-ba07-da412ad02e35","normal_bam_uuid":"2d364bb0-257a-4c5b-917e-918bfe9cd46b","case_id":"0b31dbdf-0623-48e4-a0ec-017650dceda7","COSMIC":"COSM6099322","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"240","Hugo_Symbol":"PTK2B","Entrez_Gene_Id":2185,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr8","Start_Position":27397600,"End_Position":27397600,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"A","dbSNP_RS":"rs771681042","Tumor_Sample_Barcode":"TCGA-73-4676-01A-01D-1753-08","Matched_Norm_Sample_Barcode":"TCGA-73-4676-11A-01D-1753-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"ff368c6d-fedb-49cc-b519-7726816aff8d","Matched_Norm_Sample_UUID":"2660c208-3cf3-4408-9ed1-370cc3479648","HGVSc":"c.16G>A","HGVSp":"p.Glu6Lys","HGVSp_Short":"p.E6K","Transcript_ID":"ENST00000346049","Exon_Number":"2/31","t_depth":86,"t_ref_count":61,"t_alt_count":24,"n_depth":97,"all_effects":"PTK2B,missense_variant,p.E6K,ENST00000397501,NM_173174.3,c.16G>A,MODERATE,YES,deleterious_low_confidence(0.01),benign(0.015),1;PTK2B,missense_variant,p.E6K,ENST00000346049,NM_004103.4&NM_173176.3,c.16G>A,MODERATE,,deleterious_low_confidence(0.01),benign(0.015),1;PTK2B,missense_variant,p.E6K,ENST00000420218,NM_173175.2,c.16G>A,MODERATE,,deleterious_low_confidence(0.01),benign(0),1;PTK2B,missense_variant,p.E6K,ENST00000517339,,c.16G>A,MODERATE,,deleterious_low_confidence(0.01),benign(0),1;PTK2B,missense_variant,p.E6K,ENST00000412793,,c.16G>A,MODERATE,,tolerated_low_confidence(0.16),benign(0.015),1;PTK2B,missense_variant,p.E6K,ENST00000522517,,c.16G>A,MODERATE,,tolerated_low_confidence(0.16),benign(0.015),1;PTK2B,missense_variant,p.E6K,ENST00000521164,,c.16G>A,MODERATE,,tolerated_low_confidence(0.14),benign(0.015),1;PTK2B,missense_variant,p.E6K,ENST00000522338,,c.16G>A,MODERATE,,tolerated_low_confidence(0.14),benign(0.015),1;PTK2B,downstream_gene_variant,,ENST00000496920,,,MODIFIER,,,,1","Allele":"A","Gene":"ENSG00000120899","Feature":"ENST00000346049","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"183/4074","CDS_position":"16/3030","Protein_position":"6/1009","Amino_acids":"E/K","Codons":"Gag/Aag","Existing_variation":"rs771681042;COSV57749548","TRANSCRIPT_STRAND":1,"SYMBOL":"PTK2B","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:9612","BIOTYPE":"protein_coding","CCDS":"CCDS6057.1","ENSP":"ENSP00000332816","SWISSPROT":"Q14289.227","UNIPARC":"UPI000000D9EC","UNIPROT_ISOFORM":"Q14289-1","RefSeq":"NM_004103.4;NM_173176.3","MANE":"NM_173176.3","APPRIS":"P4","SIFT":"deleterious_low_confidence(0.01)","PolyPhen":"benign(0.015)","EXON":"2/31","DOMAINS":"PANTHER:PTHR24418:SF94;PANTHER:PTHR24418","gnomAD_AF":"8.755e-05","gnomAD_AFR_AF":"0","gnomAD_AMR_AF":"2.891e-05","gnomAD_ASJ_AF":"0","gnomAD_EAS_AF":"0","gnomAD_FIN_AF":"0","gnomAD_NFE_AF":"2.641e-05","gnomAD_OTH_AF":"0","gnomAD_SAS_AF":"0.0005879","MAX_AF":"0.0005879","MAX_AF_POPS":"gnomAD_SAS","gnomAD_non_cancer_AF":"6.75976980346604e-06","gnomAD_non_cancer_AFR_AF":"0","gnomAD_non_cancer_AMI_AF":"0","gnomAD_non_cancer_AMR_AF":"0","gnomAD_non_cancer_ASJ_AF":"0","gnomAD_non_cancer_EAS_AF":"0","gnomAD_non_cancer_FIN_AF":"0","gnomAD_non_cancer_MID_AF":"0","gnomAD_non_cancer_NFE_AF":"1.54288009071024e-05","gnomAD_non_cancer_OTH_AF":"0","gnomAD_non_cancer_SAS_AF":"0","SOMATIC":"0;1","IMPACT":"MODERATE","VARIANT_CLASS":"SNV","TSL":1,"PHENO":"0;1","CONTEXT":"TGTCCGAGCCC","tumor_bam_uuid":"426d1b3f-24e9-410c-af84-fc9e6c838eb1","normal_bam_uuid":"cf13b6a6-c0a0-47b8-a0e0-17d75f836743","case_id":"195a5afb-b79f-44d2-9d12-884487630c2b","COSMIC":"COSM6113222;COSM6113223","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"425","Hugo_Symbol":"GPR50","Entrez_Gene_Id":9248,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chrX","Start_Position":151181155,"End_Position":151181155,"Strand":"+","Variant_Classification":"Silent","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-55-7281-01A-11D-2036-08","Matched_Norm_Sample_Barcode":"TCGA-55-7281-10A-01D-2036-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"d5443922-fea5-4ff0-bd6e-8ce04e1951d8","Matched_Norm_Sample_UUID":"7ba2ada7-2353-4035-b73c-9b2a3880a72c","HGVSc":"c.1572C>A","HGVSp":"p.Ala524=","HGVSp_Short":"p.A524=","Transcript_ID":"ENST00000218316","Exon_Number":"2/2","t_depth":297,"t_ref_count":237,"t_alt_count":60,"n_depth":133,"all_effects":"GPR50,synonymous_variant,p.A524=,ENST00000218316,NM_004224.3,c.1572C>A,LOW,YES,,,1;GPR50-AS1,upstream_gene_variant,,ENST00000454196,,,MODIFIER,YES,,,-1;KC877982.1,upstream_gene_variant,,ENST00000602313,,,MODIFIER,YES,,,1","Allele":"A","Gene":"ENSG00000102195","Feature":"ENST00000218316","Feature_type":"Transcript","One_Consequence":"synonymous_variant","Consequence":"synonymous_variant","cDNA_position":"1710/2020","CDS_position":"1572/1854","Protein_position":"524/617","Amino_acids":"A","Codons":"gcC/gcA","Existing_variation":"COSV54437958","TRANSCRIPT_STRAND":1,"SYMBOL":"GPR50","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:4506","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS44012.1","ENSP":"ENSP00000218316","SWISSPROT":"Q13585.148","UNIPARC":"UPI000013C755","RefSeq":"NM_004224.3","MANE":"NM_004224.3","APPRIS":"P1","EXON":"2/2","DOMAINS":"Prints:PR01151;MobiDB_lite:mobidb-lite","SOMATIC":"1","IMPACT":"LOW","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","CONTEXT":"CCTGCCACTAC","tumor_bam_uuid":"1dd574e9-0058-4231-9ed9-58dbb1586ee7","normal_bam_uuid":"0dc92249-3e3c-414e-95c0-1a56b116614f","case_id":"659668e8-f0d9-4ff2-bbc8-9246f2ef49ab","COSMIC":"COSM6185746;COSM6185747","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"80","Hugo_Symbol":"RYR2","Entrez_Gene_Id":6262,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr1","Start_Position":237784714,"End_Position":237784714,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"T","Tumor_Sample_Barcode":"TCGA-55-5899-01A-11D-1625-08","Matched_Norm_Sample_Barcode":"TCGA-55-5899-10A-01D-1625-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"ddaf36f7-7503-4ab4-b7f5-9777c0c1518c","Matched_Norm_Sample_UUID":"dc4e5547-75ee-4ef7-9657-998b1df44128","HGVSc":"c.13002G>T","HGVSp":"p.Met4334Ile","HGVSp_Short":"p.M4334I","Transcript_ID":"ENST00000366574","Exon_Number":"90/105","t_depth":49,"t_ref_count":33,"t_alt_count":16,"n_depth":53,"all_effects":"RYR2,missense_variant,p.M4334I,ENST00000366574,NM_001035.3,c.13002G>T,MODERATE,YES,tolerated(0.22),probably_damaging(0.977),1;RYR2,missense_variant,p.M4318I,ENST00000360064,,c.12954G>T,MODERATE,,tolerated(0.21),possibly_damaging(0.652),1;RYR2,missense_variant,p.M1727I,ENST00000659194,,c.5181G>T,MODERATE,,tolerated(0.26),benign(0.29),1;RYR2,missense_variant,p.M1019I,ENST00000660292,,c.3057G>T,MODERATE,,tolerated(0.22),benign(0.059),1;RYR2,3_prime_UTR_variant,,ENST00000609119,,c.*4094G>T,MODIFIER,,,,1","Allele":"T","Gene":"ENSG00000198626","Feature":"ENST00000366574","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"13340/16583","CDS_position":"13002/14904","Protein_position":"4334/4967","Amino_acids":"M/I","Codons":"atG/atT","Existing_variation":"COSV63687284;COSV63702121","TRANSCRIPT_STRAND":1,"SYMBOL":"RYR2","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:10484","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS55691.1","ENSP":"ENSP00000355533","SWISSPROT":"Q92736.216","UNIPARC":"UPI0000DD0308","UNIPROT_ISOFORM":"Q92736-1","RefSeq":"NM_001035.3","MANE":"NM_001035.3","APPRIS":"P1","SIFT":"tolerated(0.22)","PolyPhen":"probably_damaging(0.977)","EXON":"90/105","DOMAINS":"Pfam:PF06459;PANTHER:PTHR12864;PANTHER:PTHR12864:SF45","SOMATIC":"1;1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1;1","GENE_PHENO":"1","CONTEXT":"AACATGCCAGA","tumor_bam_uuid":"b216790e-0720-4de8-bc2d-6d45798e585d","normal_bam_uuid":"c2bad8dd-9e97-4010-93ff-5c0cf8f2e058","case_id":"996a0070-e9bf-4601-8ef7-60212108258d","COSMIC":"COSM361107;COSM6061848","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"509","Hugo_Symbol":"FATE1","Entrez_Gene_Id":89885,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chrX","Start_Position":151721425,"End_Position":151721425,"Strand":"+","Variant_Classification":"Nonsense_Mutation","Variant_Type":"SNP","Reference_Allele":"A","Tumor_Seq_Allele1":"A","Tumor_Seq_Allele2":"T","Tumor_Sample_Barcode":"TCGA-44-2668-01A-01D-A271-08","Matched_Norm_Sample_Barcode":"TCGA-44-2668-10A-01D-1489-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"409bc528-4154-4680-bfeb-8f004f136a25","Matched_Norm_Sample_UUID":"bf763792-789b-47d2-b4fd-1dbcaf7467ab","HGVSc":"c.265A>T","HGVSp":"p.Arg89Ter","HGVSp_Short":"p.R89*","Transcript_ID":"ENST00000370350","Exon_Number":"3/5","t_depth":33,"t_ref_count":27,"t_alt_count":6,"n_depth":102,"all_effects":"FATE1,stop_gained,p.R89*,ENST00000370350,NM_033085.3,c.265A>T,HIGH,YES,,,1;FATE1,intron_variant,,ENST00000417321,,c.211-478A>T,MODIFIER,,,,1","Allele":"T","Gene":"ENSG00000147378","Feature":"ENST00000370350","Feature_type":"Transcript","One_Consequence":"stop_gained","Consequence":"stop_gained","cDNA_position":"350/1072","CDS_position":"265/552","Protein_position":"89/183","Amino_acids":"R/*","Codons":"Aga/Tga","Existing_variation":"COSV64849047","TRANSCRIPT_STRAND":1,"SYMBOL":"FATE1","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:24683","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS14700.1","ENSP":"ENSP00000359375","SWISSPROT":"Q969F0.143","UNIPARC":"UPI0000073DB2","RefSeq":"NM_033085.3","MANE":"NM_033085.3","APPRIS":"P1","EXON":"3/5","DOMAINS":"PANTHER:PTHR21128","SOMATIC":"1","IMPACT":"HIGH","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","CONTEXT":"TGCTGAGAGAA","tumor_bam_uuid":"635f4882-9fd3-4ba4-a6bb-c2e04a91e31d","normal_bam_uuid":"2af16af1-1909-41f8-a008-d1e99138ed46","case_id":"bab43415-d413-40be-a4c0-2c40a52afe6a","COSMIC":"COSM6117826","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"149","Hugo_Symbol":"PTPN13","Entrez_Gene_Id":5783,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr4","Start_Position":86772894,"End_Position":86772894,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"G","Tumor_Sample_Barcode":"TCGA-91-7771-01A-11D-2167-08","Matched_Norm_Sample_Barcode":"TCGA-91-7771-10A-01D-2167-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"969b8cc9-2632-4be2-9358-681312a36c34","Matched_Norm_Sample_UUID":"36de470c-ab00-4a9b-8ce8-c3751ef9278e","HGVSc":"c.5285C>G","HGVSp":"p.Thr1762Ser","HGVSp_Short":"p.T1762S","Transcript_ID":"ENST00000411767","Exon_Number":"32/48","t_depth":51,"t_ref_count":38,"t_alt_count":13,"n_depth":83,"all_effects":"PTPN13,missense_variant,p.T1767S,ENST00000436978,NM_080685.2,c.5300C>G,MODERATE,YES,tolerated(0.62),benign(0.001),1;PTPN13,missense_variant,p.T1762S,ENST00000411767,NM_080683.3,c.5285C>G,MODERATE,,tolerated(0.66),benign(0.001),1;PTPN13,missense_variant,p.T1743S,ENST00000427191,NM_006264.3,c.5228C>G,MODERATE,,tolerated(0.66),benign(0.003),1;PTPN13,missense_variant,p.T1767S,ENST00000511467,,c.5300C>G,MODERATE,,tolerated(0.62),benign(0.001),1;PTPN13,missense_variant,p.T1571S,ENST00000316707,NM_080684.3,c.4712C>G,MODERATE,,tolerated(0.93),benign(0.001),1","Allele":"G","Gene":"ENSG00000163629","Feature":"ENST00000411767","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"5765/8548","CDS_position":"5285/7458","Protein_position":"1762/2485","Amino_acids":"T/S","Codons":"aCt/aGt","Existing_variation":"COSV57401459","TRANSCRIPT_STRAND":1,"SYMBOL":"PTPN13","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:9646","BIOTYPE":"protein_coding","CCDS":"CCDS47094.1","ENSP":"ENSP00000407249","SWISSPROT":"Q12923.217","UNIPARC":"UPI0000132973","UNIPROT_ISOFORM":"Q12923-1","RefSeq":"NM_080683.3","MANE":"NM_080683.3","APPRIS":"A2","SIFT":"tolerated(0.66)","PolyPhen":"benign(0.001)","EXON":"32/48","DOMAINS":"PIRSF:PIRSF000933;PANTHER:PTHR19964;PANTHER:PTHR19964:SF74","SOMATIC":"1","IMPACT":"MODERATE","VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","GENE_PHENO":"1","CONTEXT":"ACCAACTAGAC","tumor_bam_uuid":"74626a0d-3a74-4a4d-b81e-6cfbd986f772","normal_bam_uuid":"8f497e84-7f7f-4f82-939e-911e8cae5746","case_id":"c0fdb152-25d2-404b-bec7-a43ece381f5b","COSMIC":"COSM6168384","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"153","Hugo_Symbol":"SH3GLB1","Entrez_Gene_Id":51100,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr1","Start_Position":86715843,"End_Position":86715843,"Strand":"+","Variant_Classification":"Silent","Variant_Type":"SNP","Reference_Allele":"A","Tumor_Seq_Allele1":"A","Tumor_Seq_Allele2":"G","dbSNP_RS":"novel","Tumor_Sample_Barcode":"TCGA-17-Z031-01A-01W-0746-08","Matched_Norm_Sample_Barcode":"TCGA-17-Z031-11A-01W-0746-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"6516244a-dfd8-4568-a2d2-7556cbea52b1","Matched_Norm_Sample_UUID":"691dc2f3-35d7-4b83-a51a-49ed1d4c2a07","HGVSc":"c.192A>G","HGVSp":"p.Glu64=","HGVSp_Short":"p.E64=","Transcript_ID":"ENST00000370558","Exon_Number":"2/9","t_depth":106,"t_ref_count":79,"t_alt_count":27,"n_depth":50,"all_effects":"SH3GLB1,synonymous_variant,p.E64=,ENST00000616170,NM_001206651.1,c.192A>G,LOW,YES,,,1;SH3GLB1,synonymous_variant,p.E64=,ENST00000370558,NM_016009.5,c.192A>G,LOW,,,,1;SH3GLB1,synonymous_variant,p.E64=,ENST00000482504,NM_001206652.2,c.192A>G,LOW,,,,1;SH3GLB1,intron_variant,,ENST00000535010,NM_001206653.1,c.-86-3664A>G,MODIFIER,,,,1","Allele":"G","Gene":"ENSG00000097033","Feature":"ENST00000370558","Feature_type":"Transcript","One_Consequence":"synonymous_variant","Consequence":"synonymous_variant","cDNA_position":"516/6371","CDS_position":"192/1098","Protein_position":"64/365","Amino_acids":"E","Codons":"gaA/gaG","TRANSCRIPT_STRAND":1,"SYMBOL":"SH3GLB1","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:10833","BIOTYPE":"protein_coding","CCDS":"CCDS710.1","ENSP":"ENSP00000473267","SWISSPROT":"Q9Y371.179","TREMBL":"A0A140VJU5.30","UNIPARC":"UPI0000035D9E","UNIPROT_ISOFORM":"Q9Y371-1","RefSeq":"NM_016009.5","MANE":"NM_016009.5","APPRIS":"P1","EXON":"2/9","DOMAINS":"PDB-ENSP_mappings:6upn.A;PDB-ENSP_mappings:6upn.B;PDB-ENSP_mappings:6upn.C;PDB-ENSP_mappings:6upn.D;PDB-ENSP_mappings:6upn.E;PDB-ENSP_mappings:6upn.F;PDB-ENSP_mappings:6upn.G;PDB-ENSP_mappings:6upn.H;PDB-ENSP_mappings:6upn.I;PDB-ENSP_mappings:6upn.J;PDB-ENSP_mappings:6upn.K;PDB-ENSP_mappings:6upn.L;PDB-ENSP_mappings:6upn.M;PDB-ENSP_mappings:6upn.N;PDB-ENSP_mappings:6upn.O;PDB-ENSP_mappings:6upn.P;PDB-ENSP_mappings:6upn.Q;PDB-ENSP_mappings:6upn.R;PDB-ENSP_mappings:6upn.S;PDB-ENSP_mappings:6upn.T;PDB-ENSP_mappings:6upn.V;PDB-ENSP_mappings:6upn.W;PDB-ENSP_mappings:6upn.X;PDB-ENSP_mappings:6upn.Y;PDB-ENSP_mappings:6upn.a;PDB-ENSP_mappings:6upn.b;PDB-ENSP_mappings:6upn.c;PDB-ENSP_mappings:6upn.d;PDB-ENSP_mappings:6upn.e;PDB-ENSP_mappings:6upn.f;PDB-ENSP_mappings:6upn.g;PDB-ENSP_mappings:6upn.h;PDB-ENSP_mappings:6upn.i;PDB-ENSP_mappings:6upn.j;PDB-ENSP_mappings:6upn.k;PDB-ENSP_mappings:6upn.l;PDB-ENSP_mappings:6upn.m;PDB-ENSP_mappings:6upn.n;PDB-ENSP_mappings:6upn.o;PDB-ENSP_mappings:6upn.p;PDB-ENSP_mappings:6upn.q;PDB-ENSP_mappings:6upn.r;PDB-ENSP_mappings:6upn.s;PDB-ENSP_mappings:6upn.t;PDB-ENSP_mappings:6upn.v;PDB-ENSP_mappings:6upn.w;PDB-ENSP_mappings:6upn.x;PDB-ENSP_mappings:6upn.y;PROSITE_profiles:PS51021;CDD:cd07616;PANTHER:PTHR14167:SF52;PANTHER:PTHR14167;Pfam:PF03114;Gene3D:1.20.1270.60;SMART:SM00721;Superfamily:SSF103657","IMPACT":"LOW","VARIANT_CLASS":"SNV","TSL":1,"CONTEXT":"ACTGAAGTGTT","tumor_bam_uuid":"874092f9-5c52-4298-9651-0418633660b1","normal_bam_uuid":"bb97a9eb-2775-40c1-aecf-aa7e5b83a8f0","case_id":"c43c8eea-7014-4abe-b805-397a9062d3e0","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"247","Hugo_Symbol":"C1orf127","Entrez_Gene_Id":148345,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr1","Start_Position":10948150,"End_Position":10948150,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"A","dbSNP_RS":"rs1322098857","Tumor_Sample_Barcode":"TCGA-69-7763-01A-11D-2167-08","Matched_Norm_Sample_Barcode":"TCGA-69-7763-10A-01D-2167-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"8dbe8f2d-38c0-4d35-bb53-d43e759784ee","Matched_Norm_Sample_UUID":"da990b8c-9ccd-4a64-811b-5a6a6177ac99","HGVSc":"c.1985C>T","HGVSp":"p.Ala662Val","HGVSp_Short":"p.A662V","Transcript_ID":"ENST00000377004","Exon_Number":"12/13","t_depth":77,"t_ref_count":63,"t_alt_count":14,"n_depth":65,"all_effects":"C1orf127,missense_variant,p.A662V,ENST00000377004,NM_001170754.1,c.1985C>T,MODERATE,YES,deleterious(0.01),benign(0),-1;C1orf127,missense_variant,p.A614V,ENST00000520253,,c.1841C>T,MODERATE,,deleterious(0.01),benign(0.001),-1;C1orf127,missense_variant,p.A497V,ENST00000418570,NM_001366227.1,c.1490C>T,MODERATE,,deleterious(0.01),benign(0.078),-1;C1orf127,upstream_gene_variant,,ENST00000468348,,,MODIFIER,,,,-1;C1orf127,non_coding_transcript_exon_variant,,ENST00000476357,,n.1602C>T,MODIFIER,,,,-1","Allele":"A","Gene":"ENSG00000175262","Feature":"ENST00000377004","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"1985/2761","CDS_position":"1985/2472","Protein_position":"662/823","Amino_acids":"A/V","Codons":"gCg/gTg","Existing_variation":"rs1322098857;COSV65438902","TRANSCRIPT_STRAND":-1,"SYMBOL":"C1orf127","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:26730","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS53267.1","ENSP":"ENSP00000366203","TREMBL":"G8JLG8.54","UNIPARC":"UPI0001C0B385","RefSeq":"NM_001170754.1","APPRIS":"P1","SIFT":"deleterious(0.01)","PolyPhen":"benign(0)","EXON":"12/13","DOMAINS":"PANTHER:PTHR38653","gnomAD_AF":"3.99e-06","gnomAD_AFR_AF":"0","gnomAD_AMR_AF":"0","gnomAD_ASJ_AF":"0","gnomAD_EAS_AF":"0","gnomAD_FIN_AF":"0","gnomAD_NFE_AF":"8.846e-06","gnomAD_OTH_AF":"0","gnomAD_SAS_AF":"0","MAX_AF":"8.846e-06","MAX_AF_POPS":"gnomAD_NFE","gnomAD_non_cancer_AF":"1.35208001665887e-05","gnomAD_non_cancer_AFR_AF":"4.86239005113021e-05","gnomAD_non_cancer_AMI_AF":"0","gnomAD_non_cancer_AMR_AF":"0","gnomAD_non_cancer_ASJ_AF":"0","gnomAD_non_cancer_EAS_AF":"0","gnomAD_non_cancer_FIN_AF":"0","gnomAD_non_cancer_MID_AF":"0","gnomAD_non_cancer_NFE_AF":"0","gnomAD_non_cancer_OTH_AF":"0","gnomAD_non_cancer_SAS_AF":"0","gnomAD_non_cancer_MAX_AF_adj":"4.86239005113021e-05","gnomAD_non_cancer_MAX_AF_POPS_adj":"afr","SOMATIC":"0;1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":5,"PHENO":"0;1","CONTEXT":"CCCTCGCTGGC","tumor_bam_uuid":"574c8b30-6e61-4566-ba68-6b95f5f4a65f","normal_bam_uuid":"1155e4ee-0ca7-4ed8-b0ca-ca3a0cee245e","case_id":"1b31cdb3-1837-49d6-a857-1830f8800299","COSMIC":"COSM6120106;COSM6120107","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"294","Hugo_Symbol":"ZEB2","Entrez_Gene_Id":9839,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr2","Start_Position":144398743,"End_Position":144398743,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"T","Tumor_Sample_Barcode":"TCGA-05-4398-01A-01D-1265-08","Matched_Norm_Sample_Barcode":"TCGA-05-4398-10A-01D-1265-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"9e4b2be6-e149-4c22-93e1-512c3c6bbea8","Matched_Norm_Sample_UUID":"27409a77-e75c-421e-9540-b45e9b98c73e","HGVSc":"c.2444C>A","HGVSp":"p.Pro815His","HGVSp_Short":"p.P815H","Transcript_ID":"ENST00000409487","Exon_Number":"8/10","t_depth":150,"t_ref_count":105,"t_alt_count":45,"n_depth":202,"all_effects":"ZEB2,missense_variant,p.P840H,ENST00000636471,,c.2519C>A,MODERATE,YES,deleterious(0),probably_damaging(0.999),-1;ZEB2,missense_variant,p.P703H,ENST00000638087,,c.2108C>A,MODERATE,,deleterious(0),probably_damaging(0.997),-1;ZEB2,missense_variant,p.P815H,ENST00000627532,NM_014795.4,c.2444C>A,MODERATE,,deleterious(0),probably_damaging(0.997),-1;ZEB2,missense_variant,p.P703H,ENST00000637304,,c.2108C>A,MODERATE,,deleterious(0),probably_damaging(0.997),-1;ZEB2,missense_variant,p.P703H,ENST00000638007,,c.2108C>A,MODERATE,,deleterious(0),probably_damaging(0.997),-1;ZEB2,missense_variant,p.P703H,ENST00000637045,,c.2108C>A,MODERATE,,deleterious(0),probably_damaging(0.997),-1;ZEB2,missense_variant,p.P703H,ENST00000636413,,c.2108C>A,MODERATE,,deleterious(0),probably_damaging(0.997),-1;ZEB2,missense_variant,p.P556H,ENST00000638128,,c.1667C>A,MODERATE,,deleterious(0),probably_damaging(0.997),-1;ZEB2,missense_variant,p.P815H,ENST00000409487,,c.2444C>A,MODERATE,,deleterious(0),probably_damaging(0.997),-1;ZEB2,missense_variant,p.P815H,ENST00000636026,,c.2444C>A,MODERATE,,deleterious(0),probably_damaging(1),-1;ZEB2,missense_variant,p.P556H,ENST00000440875,,c.1667C>A,MODERATE,,deleterious(0),probably_damaging(0.997),-1;ZEB2,missense_variant,p.P791H,ENST00000539609,NM_001171653.2,c.2372C>A,MODERATE,,deleterious(0),probably_damaging(0.999),-1;ZEB2,missense_variant,p.P815H,ENST00000558170,,c.2444C>A,MODERATE,,deleterious(0),probably_damaging(0.997),-1;ZEB2,missense_variant,p.P814H,ENST00000303660,,c.2441C>A,MODERATE,,deleterious(0),probably_damaging(0.997),-1;ZEB2,5_prime_UTR_variant,,ENST00000675069,,c.-26C>A,MODIFIER,,,,-1;ZEB2,intron_variant,,ENST00000419938,,c.655+2456C>A,MODIFIER,,,,-1;ZEB2,downstream_gene_variant,,ENST00000392861,,,MODIFIER,,,,-1;ZEB2,downstream_gene_variant,,ENST00000427902,,,MODIFIER,,,,-1;ZEB2,downstream_gene_variant,,ENST00000637267,,,MODIFIER,,,,-1;ZEB2,upstream_gene_variant,,ENST00000637873,,,MODIFIER,,,,-1;ZEB2,upstream_gene_variant,,ENST00000639389,,,MODIFIER,,,,-1;ZEB2,upstream_gene_variant,,ENST00000647488,,,MODIFIER,,,,-1;ZEB2,non_coding_transcript_exon_variant,,ENST00000636820,,n.2544C>A,MODIFIER,,,,-1;ZEB2,non_coding_transcript_exon_variant,,ENST00000636179,,n.2413C>A,MODIFIER,,,,-1;ZEB2,3_prime_UTR_variant,,ENST00000636732,,c.*2161C>A,MODIFIER,,,,-1;ZEB2,non_coding_transcript_exon_variant,,ENST00000675145,,n.2992C>A,MODIFIER,,,,-1","Allele":"T","Gene":"ENSG00000169554","Feature":"ENST00000409487","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"2727/5361","CDS_position":"2444/3645","Protein_position":"815/1214","Amino_acids":"P/H","Codons":"cCt/cAt","Existing_variation":"COSV100355226","TRANSCRIPT_STRAND":-1,"SYMBOL":"ZEB2","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:14881","BIOTYPE":"protein_coding","CCDS":"CCDS2186.1","ENSP":"ENSP00000386854","SWISSPROT":"O60315.209","UNIPARC":"UPI00001359A2","UNIPROT_ISOFORM":"O60315-1","APPRIS":"P4","SIFT":"deleterious(0)","PolyPhen":"probably_damaging(0.997)","EXON":"8/10","DOMAINS":"PANTHER:PTHR24391:SF11;PANTHER:PTHR24391","SOMATIC":"1","IMPACT":"MODERATE","VARIANT_CLASS":"SNV","TSL":5,"PHENO":"1","GENE_PHENO":"1","CONTEXT":"CTAAAGGCTCA","tumor_bam_uuid":"3443fd69-b7e9-4294-9e8c-c80ee3cc822e","normal_bam_uuid":"d0b511d6-e4b8-4202-b537-87031403e6b1","case_id":"31c96e35-5e2f-429c-b12a-7bc5a497a300","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"426","Hugo_Symbol":"TMEM169","Entrez_Gene_Id":92691,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr2","Start_Position":216096048,"End_Position":216096048,"Strand":"+","Variant_Classification":"Silent","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"T","dbSNP_RS":"rs769016269","Tumor_Sample_Barcode":"TCGA-05-4424-01A-22D-1855-08","Matched_Norm_Sample_Barcode":"TCGA-05-4424-10A-01D-1855-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"fc500ff5-24c8-4965-94da-b4afafafe2dd","Matched_Norm_Sample_UUID":"e785fabf-7b0f-49cd-a423-0c6372147f9b","HGVSc":"c.85C>T","HGVSp":"p.Leu29=","HGVSp_Short":"p.L29=","Transcript_ID":"ENST00000295658","Exon_Number":"2/3","t_depth":78,"t_ref_count":58,"t_alt_count":20,"n_depth":78,"all_effects":"TMEM169,synonymous_variant,p.L29=,ENST00000454545,NM_001142310.1,c.85C>T,LOW,YES,,,1;TMEM169,synonymous_variant,p.L29=,ENST00000295658,,c.85C>T,LOW,,,,1;TMEM169,synonymous_variant,p.L29=,ENST00000437356,NM_001142311.2&NM_138390.4&NM_001142312.2,c.85C>T,LOW,,,,1;TMEM169,synonymous_variant,p.L29=,ENST00000406027,,c.85C>T,LOW,,,,1;TMEM169,synonymous_variant,p.L29=,ENST00000433112,,c.85C>T,LOW,,,,1;TMEM169,synonymous_variant,p.L29=,ENST00000455479,,c.85C>T,LOW,,,,1","Allele":"T","Gene":"ENSG00000163449","Feature":"ENST00000295658","Feature_type":"Transcript","One_Consequence":"synonymous_variant","Consequence":"synonymous_variant","cDNA_position":"292/3342","CDS_position":"85/894","Protein_position":"29/297","Amino_acids":"L","Codons":"Ctg/Ttg","Existing_variation":"rs769016269;COSV99824458","TRANSCRIPT_STRAND":1,"SYMBOL":"TMEM169","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:25130","BIOTYPE":"protein_coding","CCDS":"CCDS2401.1","ENSP":"ENSP00000295658","SWISSPROT":"Q96HH4.113","TREMBL":"A0A024R430.41","UNIPARC":"UPI0000070E77","APPRIS":"P1","EXON":"2/3","DOMAINS":"PANTHER:PTHR31777;MobiDB_lite:mobidb-lite","gnomAD_AF":"7.959e-06","gnomAD_AFR_AF":"0","gnomAD_AMR_AF":"2.892e-05","gnomAD_ASJ_AF":"0","gnomAD_EAS_AF":"0","gnomAD_FIN_AF":"0","gnomAD_NFE_AF":"0","gnomAD_OTH_AF":"0","gnomAD_SAS_AF":"3.266e-05","MAX_AF":"3.266e-05","MAX_AF_POPS":"gnomAD_SAS","gnomAD_non_cancer_AF":"6.7586702243716e-06","gnomAD_non_cancer_AFR_AF":"0","gnomAD_non_cancer_AMI_AF":"0","gnomAD_non_cancer_AMR_AF":"6.62777965771966e-05","gnomAD_non_cancer_ASJ_AF":"0","gnomAD_non_cancer_EAS_AF":"0","gnomAD_non_cancer_FIN_AF":"0","gnomAD_non_cancer_MID_AF":"0","gnomAD_non_cancer_NFE_AF":"0","gnomAD_non_cancer_OTH_AF":"0","gnomAD_non_cancer_SAS_AF":"0","SOMATIC":"0;1","IMPACT":"LOW","VARIANT_CLASS":"SNV","TSL":2,"PHENO":"0;1","CONTEXT":"CTGCCCTGGCG","tumor_bam_uuid":"64919ef7-1106-41b9-9941-4928231ab2eb","normal_bam_uuid":"671061d8-9a23-4559-8859-51408c3f4939","case_id":"66763a0c-6cda-4832-a0cc-e7b496d78eaa","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"610","Hugo_Symbol":"TPO","Entrez_Gene_Id":7173,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr2","Start_Position":1453761,"End_Position":1453761,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"A","dbSNP_RS":"rs777937878","Tumor_Sample_Barcode":"TCGA-17-Z003-01A-01W-0746-08","Matched_Norm_Sample_Barcode":"TCGA-17-Z003-11A-01W-0746-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"443d768f-b871-4149-9ef0-2d49bc0d05a1","Matched_Norm_Sample_UUID":"df1db93e-dd3b-48eb-9d24-8de9a08c4204","HGVSc":"c.550G>A","HGVSp":"p.Gly184Ser","HGVSp_Short":"p.G184S","Transcript_ID":"ENST00000329066","Exon_Number":"6/17","t_depth":28,"t_ref_count":24,"t_alt_count":4,"n_depth":32,"all_effects":"TPO,missense_variant,p.G113S,ENST00000422464,,c.337G>A,MODERATE,,deleterious(0.01),probably_damaging(0.975),1;TPO,missense_variant,p.G184S,ENST00000329066,NM_001206744.2,c.550G>A,MODERATE,YES,deleterious(0.03),probably_damaging(0.999),1;TPO,missense_variant,p.G184S,ENST00000345913,NM_000547.5,c.550G>A,MODERATE,,deleterious(0.03),probably_damaging(0.999),1;TPO,missense_variant,p.G184S,ENST00000382201,NM_175719.3&NM_001206745.1,c.550G>A,MODERATE,,deleterious(0.03),probably_damaging(0.998),1;TPO,missense_variant,p.G184S,ENST00000346956,NM_175721.3,c.550G>A,MODERATE,,deleterious(0.01),probably_damaging(0.993),1;TPO,missense_variant,p.G184S,ENST00000382198,NM_175722.3,c.550G>A,MODERATE,,deleterious(0.01),probably_damaging(0.962),1;TPO,downstream_gene_variant,,ENST00000423320,,,MODIFIER,,,,1;TPO,intron_variant,,ENST00000497517,,n.181-30835G>A,MODIFIER,,,,1;AC105450.1,intron_variant,,ENST00000650512,,n.548-35300C>T,MODIFIER,YES,,,-1","Allele":"A","Gene":"ENSG00000115705","Feature":"ENST00000329066","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"634/4085","CDS_position":"550/2802","Protein_position":"184/933","Amino_acids":"G/S","Codons":"Ggc/Agc","Existing_variation":"rs777937878;COSV61102562","TRANSCRIPT_STRAND":1,"SYMBOL":"TPO","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:12015","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS1643.1","ENSP":"ENSP00000329869","SWISSPROT":"P07202.239","UNIPARC":"UPI000013D480","UNIPROT_ISOFORM":"P07202-1","RefSeq":"NM_001206744.2","MANE":"NM_001206744.2","APPRIS":"P1","SIFT":"deleterious(0.03)","PolyPhen":"probably_damaging(0.999)","EXON":"6/17","DOMAINS":"Gene3D:1.10.640.10;Pfam:PF03098;Prints:PR00457;PROSITE_profiles:PS50292;PANTHER:PTHR11475;PANTHER:PTHR11475:SF60;Superfamily:SSF48113;CDD:cd09825","gnomAD_AF":"1.591e-05","gnomAD_AFR_AF":"0","gnomAD_AMR_AF":"0","gnomAD_ASJ_AF":"0","gnomAD_EAS_AF":"5.438e-05","gnomAD_FIN_AF":"0","gnomAD_NFE_AF":"1.759e-05","gnomAD_OTH_AF":"0","gnomAD_SAS_AF":"3.266e-05","MAX_AF":"5.438e-05","MAX_AF_POPS":"gnomAD_EAS","gnomAD_non_cancer_AF":"1.35202999445028e-05","gnomAD_non_cancer_AFR_AF":"2.43191007029964e-05","gnomAD_non_cancer_AMI_AF":"0","gnomAD_non_cancer_AMR_AF":"6.62777965771966e-05","gnomAD_non_cancer_ASJ_AF":"0","gnomAD_non_cancer_EAS_AF":"0","gnomAD_non_cancer_FIN_AF":"0","gnomAD_non_cancer_MID_AF":"0","gnomAD_non_cancer_NFE_AF":"0","gnomAD_non_cancer_OTH_AF":"0","gnomAD_non_cancer_SAS_AF":"0","SOMATIC":"0;1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"0;1","GENE_PHENO":"1","CONTEXT":"AGGACGGCTTC","tumor_bam_uuid":"3a402bfa-150c-429f-a7d2-bfaf3a66891d","normal_bam_uuid":"9fddaf07-f3d6-4363-adf5-4aadd1bfbbf1","case_id":"c390b6ad-14c8-49ea-9b38-798c9fad5b62","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2"}
{"X1":"492","Hugo_Symbol":"NDUFV3","Entrez_Gene_Id":4731,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr21","Start_Position":42903623,"End_Position":42903623,"Strand":"+","Variant_Classification":"Intron","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"T","Tumor_Sample_Barcode":"TCGA-95-7948-01A-11D-2184-08","Matched_Norm_Sample_Barcode":"TCGA-95-7948-10A-01D-2184-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"ab3b50c5-0335-4685-acc2-eeadbf2a9c1b","Matched_Norm_Sample_UUID":"984543c0-0d4b-4b68-997e-a8e3a755414d","HGVSc":"c.170-5241C>T","Transcript_ID":"ENST00000340344","t_depth":80,"t_ref_count":67,"t_alt_count":13,"n_depth":78,"all_effects":"NDUFV3,missense_variant,p.S204L,ENST00000354250,NM_021075.4,c.611C>T,MODERATE,YES,tolerated(0.17),possibly_damaging(0.755),1;NDUFV3,intron_variant,,ENST00000340344,NM_001001503.2,c.170-5241C>T,MODIFIER,,,,1;NDUFV3,non_coding_transcript_exon_variant,,ENST00000460259,,n.1134C>T,MODIFIER,,,,1;NDUFV3,non_coding_transcript_exon_variant,,ENST00000460740,,n.503C>T,MODIFIER,,,,1","Allele":"T","Gene":"ENSG00000160194","Feature":"ENST00000340344","Feature_type":"Transcript","One_Consequence":"intron_variant","Consequence":"intron_variant","Existing_variation":"COSV100446997","TRANSCRIPT_STRAND":1,"SYMBOL":"NDUFV3","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:7719","BIOTYPE":"protein_coding","CCDS":"CCDS33573.1","ENSP":"ENSP00000342895","SWISSPROT":"P56181.159","UNIPARC":"UPI0000130A1F","UNIPROT_ISOFORM":"P56181-1","RefSeq":"NM_001001503.2","APPRIS":"P1","INTRON":"2/2","SOMATIC":"1","IMPACT":"MODIFIER","VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","CONTEXT":"AGTATCAGCAA","tumor_bam_uuid":"695a3d72-7a7e-4433-bef4-9dd9b9398c26","normal_bam_uuid":"96a3c372-1c24-4b6f-a6fd-f04f1eb0166e","case_id":"a52e99d6-a61a-439d-b0b1-ca7a0eabcb04","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"346","Hugo_Symbol":"FAT3","Entrez_Gene_Id":120114,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr11","Start_Position":92797873,"End_Position":92797873,"Strand":"+","Variant_Classification":"Silent","Variant_Type":"SNP","Reference_Allele":"A","Tumor_Seq_Allele1":"A","Tumor_Seq_Allele2":"T","Tumor_Sample_Barcode":"TCGA-44-2656-01B-06D-A271-08","Matched_Norm_Sample_Barcode":"TCGA-44-2656-10A-01D-0969-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"4af6cb5c-4ca2-49c7-b0c5-9f777e172bde","Matched_Norm_Sample_UUID":"03b8420d-480f-48e1-88a7-8ee9917049a6","HGVSc":"c.4860A>T","HGVSp":"p.Leu1620=","HGVSp_Short":"p.L1620=","Transcript_ID":"ENST00000409404","Exon_Number":"9/25","t_depth":177,"t_ref_count":110,"t_alt_count":67,"n_depth":100,"all_effects":"FAT3,synonymous_variant,p.L1620=,ENST00000409404,NM_001008781.3,c.4860A>T,LOW,YES,,,1;FAT3,synonymous_variant,p.L1470=,ENST00000525166,NM_001367949.2,c.4410A>T,LOW,,,,1","Allele":"T","Gene":"ENSG00000165323","Feature":"ENST00000409404","Feature_type":"Transcript","One_Consequence":"synonymous_variant","Consequence":"synonymous_variant","cDNA_position":"4877/19030","CDS_position":"4860/13674","Protein_position":"1620/4557","Amino_acids":"L","Codons":"ctA/ctT","Existing_variation":"COSV53082578","TRANSCRIPT_STRAND":1,"SYMBOL":"FAT3","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:23112","BIOTYPE":"protein_coding","CANONICAL":"YES","ENSP":"ENSP00000387040","SWISSPROT":"Q8TDW7.142","UNIPARC":"UPI000050B6C7","UNIPROT_ISOFORM":"Q8TDW7-3","RefSeq":"NM_001008781.3","APPRIS":"P1","EXON":"9/25","DOMAINS":"CDD:cd11304;Gene3D:2.60.40.60;Pfam:PF00028;SMART:SM00112;Superfamily:SSF49313;PROSITE_profiles:PS50268;PANTHER:PTHR24026;PANTHER:PTHR24026:SF49","SOMATIC":"1","IMPACT":"LOW","PICK":1,"VARIANT_CLASS":"SNV","TSL":5,"PHENO":"1","GENE_PHENO":"1","CONTEXT":"GTCCTAGGCAT","tumor_bam_uuid":"b91f5c4e-690a-4fe7-b0d0-e4b33c4ef398","normal_bam_uuid":"ada4ffdf-3ba5-4ad0-8eb4-634d04b2b9b8","case_id":"42ca54fc-c1ae-41cd-bca1-7fe9810db460","COSMIC":"COSM6070867;COSM6070868","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"418","Hugo_Symbol":"TMEM39A","Entrez_Gene_Id":55254,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr3","Start_Position":119432175,"End_Position":119432175,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"T","Tumor_Seq_Allele1":"T","Tumor_Seq_Allele2":"A","dbSNP_RS":"novel","Tumor_Sample_Barcode":"TCGA-17-Z045-01A-01W-0746-08","Matched_Norm_Sample_Barcode":"TCGA-17-Z045-11A-01W-0747-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"ec7e65c5-7158-427f-8034-8616077da50b","Matched_Norm_Sample_UUID":"9264321f-654e-432e-9c12-78ee2c52dff5","HGVSc":"c.1273A>T","HGVSp":"p.Ile425Phe","HGVSp_Short":"p.I425F","Transcript_ID":"ENST00000319172","Exon_Number":"9/9","t_depth":58,"t_ref_count":45,"t_alt_count":13,"n_depth":59,"all_effects":"TMEM39A,missense_variant,p.I425F,ENST00000319172,NM_018266.3,c.1273A>T,MODERATE,YES,deleterious(0.01),possibly_damaging(0.446),-1;TMEM39A,downstream_gene_variant,,ENST00000491685,,,MODIFIER,,,,-1;TMEM39A,3_prime_UTR_variant,,ENST00000438581,,c.*941A>T,MODIFIER,,,,-1;TMEM39A,3_prime_UTR_variant,,ENST00000473684,,c.*311A>T,MODIFIER,,,,-1;TMEM39A,downstream_gene_variant,,ENST00000468545,,,MODIFIER,,,,-1","Allele":"A","Gene":"ENSG00000176142","Feature":"ENST00000319172","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"1627/4853","CDS_position":"1273/1467","Protein_position":"425/488","Amino_acids":"I/F","Codons":"Atc/Ttc","TRANSCRIPT_STRAND":-1,"SYMBOL":"TMEM39A","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:25600","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS2987.1","ENSP":"ENSP00000326063","SWISSPROT":"Q9NV64.125","UNIPARC":"UPI00000715E5","UNIPROT_ISOFORM":"Q9NV64-1","RefSeq":"NM_018266.3","MANE":"NM_018266.3","APPRIS":"P1","SIFT":"deleterious(0.01)","PolyPhen":"possibly_damaging(0.446)","EXON":"9/9","DOMAINS":"Low_complexity_(Seg):seg;Transmembrane_helices:TMhelix;PANTHER:PTHR12995:SF3;PANTHER:PTHR12995;Pfam:PF10271","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"CONTEXT":"AAGGATGAGCA","tumor_bam_uuid":"c0d0ab15-f49e-4981-9ffc-d1241b9b56c2","normal_bam_uuid":"4dbd781b-5912-4f6c-8cea-9ac1196eddde","case_id":"62633a11-db23-481f-add3-853b2acac1bf","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"67","Hugo_Symbol":"NEXN","Entrez_Gene_Id":91624,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr1","Start_Position":77926610,"End_Position":77926610,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"T","Tumor_Seq_Allele1":"T","Tumor_Seq_Allele2":"C","Tumor_Sample_Barcode":"TCGA-L9-A8F4-01A-11D-A397-08","Matched_Norm_Sample_Barcode":"TCGA-L9-A8F4-10A-01D-A39A-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"6e41d3ec-afb4-4027-9728-f09f8c37c196","Matched_Norm_Sample_UUID":"a6fd41f7-923e-4022-b2ad-f264552b1732","HGVSc":"c.686T>C","HGVSp":"p.Met229Thr","HGVSp_Short":"p.M229T","Transcript_ID":"ENST00000334785","Exon_Number":"7/13","t_depth":69,"t_ref_count":59,"t_alt_count":10,"n_depth":100,"all_effects":"NEXN,missense_variant,p.M229T,ENST00000334785,NM_144573.4,c.686T>C,MODERATE,YES,tolerated(0.67),benign(0.003),1;NEXN,missense_variant,p.M165T,ENST00000330010,NM_001172309.1,c.494T>C,MODERATE,,tolerated(0.57),benign(0.003),1;NEXN,missense_variant,p.M129T,ENST00000342754,,c.386T>C,MODERATE,,tolerated(0.57),benign(0.006),1;NEXN,missense_variant,p.M215T,ENST00000440324,,c.644T>C,MODERATE,,tolerated(0.59),benign(0.001),1;NEXN,missense_variant,p.M165T,ENST00000401035,,c.494T>C,MODERATE,,tolerated(0.61),benign(0.003),1;NEXN,non_coding_transcript_exon_variant,,ENST00000464998,,n.42T>C,MODIFIER,,,,1","Allele":"C","Gene":"ENSG00000162614","Feature":"ENST00000334785","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant;splice_region_variant","cDNA_position":"874/3282","CDS_position":"686/2028","Protein_position":"229/675","Amino_acids":"M/T","Codons":"aTg/aCg","Existing_variation":"COSV53942349","TRANSCRIPT_STRAND":1,"SYMBOL":"NEXN","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:29557","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS41351.1","ENSP":"ENSP00000333938","SWISSPROT":"Q0ZGT2.133","UNIPARC":"UPI000022ABDC","UNIPROT_ISOFORM":"Q0ZGT2-1","RefSeq":"NM_144573.4","MANE":"NM_144573.4","APPRIS":"P3","SIFT":"tolerated(0.67)","PolyPhen":"benign(0.003)","EXON":"7/13","DOMAINS":"PANTHER:PTHR10075:SF52;PANTHER:PTHR10075","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","GENE_PHENO":"1","CONTEXT":"AGTTATGGTAA","tumor_bam_uuid":"d16b846a-05d3-4470-8735-cd93fe336e5d","normal_bam_uuid":"197912f7-2f86-41ca-bdfb-65322e773cad","case_id":"927fc5e0-2c14-4c20-a49b-f10d8a1175c3","COSMIC":"COSM4009976;COSM4009977","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"70","Hugo_Symbol":"CFAP47","Entrez_Gene_Id":286464,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chrX","Start_Position":35956189,"End_Position":35956189,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"T","Tumor_Sample_Barcode":"TCGA-91-6828-01A-11D-1855-08","Matched_Norm_Sample_Barcode":"TCGA-91-6828-10A-01D-1855-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"99f819f2-4340-4303-8ff0-fdb03ef0151a","Matched_Norm_Sample_UUID":"e202283d-04a1-4fbc-9e8e-8b5abae14385","HGVSc":"c.1403G>T","HGVSp":"p.Gly468Val","HGVSp_Short":"p.G468V","Transcript_ID":"ENST00000378653","Exon_Number":"8/64","t_depth":24,"t_ref_count":8,"t_alt_count":16,"n_depth":22,"all_effects":"CFAP47,missense_variant,p.G468V,ENST00000378653,NM_001304548.2,c.1403G>T,MODERATE,YES,tolerated(0.3),benign(0.205),1;CFAP47,missense_variant,p.G468V,ENST00000297866,NM_152632.4,c.1403G>T,MODERATE,,deleterious(0.03),benign(0.072),1;CFAP47,missense_variant,p.G468V,ENST00000493930,,c.1403G>T,MODERATE,,deleterious(0.03),benign(0.072),1","Allele":"T","Gene":"ENSG00000165164","Feature":"ENST00000378653","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"1469/9941","CDS_position":"1403/9564","Protein_position":"468/3187","Amino_acids":"G/V","Codons":"gGt/gTt","Existing_variation":"COSV99934545","TRANSCRIPT_STRAND":1,"SYMBOL":"CFAP47","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:26708","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS83464.1","ENSP":"ENSP00000367922","SWISSPROT":"Q6ZTR5.128","UNIPARC":"UPI000596DACD","UNIPROT_ISOFORM":"Q6ZTR5-5","RefSeq":"NM_001304548.2","MANE":"NM_001304548.2","APPRIS":"P4","SIFT":"tolerated(0.3)","PolyPhen":"benign(0.205)","EXON":"8/64","DOMAINS":"Gene3D:2.60.40.10;PANTHER:PTHR45912","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":5,"PHENO":"1","CONTEXT":"AGGGGGTATGG","tumor_bam_uuid":"e9919e1d-ed16-427c-8a19-107e53cd56f5","normal_bam_uuid":"d3d1771f-0347-4e78-b510-b96bcfa8e8fa","case_id":"9536e32d-2707-48d2-a36d-08c521665bb9","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"347","Hugo_Symbol":"CCDC136","Entrez_Gene_Id":64753,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr7","Start_Position":128810232,"End_Position":128810232,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-44-2656-01A-02D-A271-08","Matched_Norm_Sample_Barcode":"TCGA-44-2656-10A-01D-0969-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"989eccfd-d0e0-45ca-af4c-7324d450e956","Matched_Norm_Sample_UUID":"03b8420d-480f-48e1-88a7-8ee9917049a6","HGVSc":"c.1894C>A","HGVSp":"p.Gln632Lys","HGVSp_Short":"p.Q632K","Transcript_ID":"ENST00000297788","Exon_Number":"12/18","t_depth":23,"t_ref_count":16,"t_alt_count":7,"n_depth":27,"all_effects":"CCDC136,missense_variant,p.Q632K,ENST00000297788,NM_001367764.1&NM_001363423.2&NM_001363424.2&NM_022742.5,c.1894C>A,MODERATE,YES,deleterious(0.03),probably_damaging(0.995),1;CCDC136,missense_variant,p.Q509K,ENST00000494552,,c.1525C>A,MODERATE,,deleterious(0),probably_damaging(0.999),1;CCDC136,missense_variant,p.Q223K,ENST00000464672,,c.667C>A,MODERATE,,deleterious(0),probably_damaging(0.995),1;CCDC136,intron_variant,,ENST00000378685,NM_001201372.2,c.1203+4331C>A,MODIFIER,,,,1;CCDC136,intron_variant,,ENST00000464832,NM_001367761.1&NM_001367766.1,c.1239+4331C>A,MODIFIER,,,,1;CCDC136,intron_variant,,ENST00000487361,NM_001367763.1&NM_001367762.1&NM_001367765.1,c.1446+2687C>A,MODIFIER,,,,1;CCDC136,upstream_gene_variant,,ENST00000471729,,,MODIFIER,,,,1;CCDC136,non_coding_transcript_exon_variant,,ENST00000480137,,n.1840C>A,MODIFIER,,,,1;CCDC136,intron_variant,,ENST00000528772,,n.54+4331C>A,MODIFIER,,,,1;CCDC136,downstream_gene_variant,,ENST00000460941,,,MODIFIER,,,,1;CCDC136,downstream_gene_variant,,ENST00000485832,,,MODIFIER,,,,1","Allele":"A","Gene":"ENSG00000128596","Feature":"ENST00000297788","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"2338/4246","CDS_position":"1894/3465","Protein_position":"632/1154","Amino_acids":"Q/K","Codons":"Caa/Aaa","Existing_variation":"COSV52796854","TRANSCRIPT_STRAND":1,"SYMBOL":"CCDC136","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:22225","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS47704.1","ENSP":"ENSP00000297788","SWISSPROT":"Q96JN2.124","UNIPARC":"UPI0000E445DE","UNIPROT_ISOFORM":"Q96JN2-1","RefSeq":"NM_001367764.1;NM_001363423.2;NM_001363424.2;NM_022742.5","MANE":"NM_022742.5","APPRIS":"P3","SIFT":"deleterious(0.03)","PolyPhen":"probably_damaging(0.995)","EXON":"12/18","DOMAINS":"PANTHER:PTHR15715;PANTHER:PTHR15715:SF26","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","CONTEXT":"AGAACCAAGAC","tumor_bam_uuid":"c9d383fc-9657-4a4e-8939-af266b798094","normal_bam_uuid":"ada4ffdf-3ba5-4ad0-8eb4-634d04b2b9b8","case_id":"42ca54fc-c1ae-41cd-bca1-7fe9810db460","COSMIC":"COSM599036;COSM599037;COSM599038","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"130","Hugo_Symbol":"SYT14","Entrez_Gene_Id":255928,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr1","Start_Position":210094421,"End_Position":210094421,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-55-8301-01A-11D-2284-08","Matched_Norm_Sample_Barcode":"TCGA-55-8301-10A-01D-2284-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"90b52c32-fccf-47ea-bb8b-896974602035","Matched_Norm_Sample_UUID":"5b258575-af4d-4869-b735-799eb61cf67a","HGVSc":"c.542C>A","HGVSp":"p.Pro181His","HGVSp_Short":"p.P181H","Transcript_ID":"ENST00000472886","Exon_Number":"5/8","t_depth":116,"t_ref_count":95,"t_alt_count":21,"n_depth":63,"all_effects":"SYT14,missense_variant,p.P471H,ENST00000637265,,c.1412C>A,MODERATE,YES,deleterious(0.03),probably_damaging(0.997),1;SYT14,missense_variant,p.P143H,ENST00000537238,NM_001256006.1,c.428C>A,MODERATE,,tolerated(0.14),benign(0.258),1;SYT14,missense_variant,p.P143H,ENST00000367015,,c.428C>A,MODERATE,,tolerated(0.14),benign(0.258),1;SYT14,missense_variant,p.P104H,ENST00000534859,,c.311C>A,MODERATE,,tolerated(0.08),probably_damaging(0.967),1;SYT14,missense_variant,p.P181H,ENST00000367019,NM_001146261.2&NM_001146262.3,c.542C>A,MODERATE,,tolerated(0.08),possibly_damaging(0.642),1;SYT14,missense_variant,p.P181H,ENST00000472886,NM_001146264.3&NM_153262.4,c.542C>A,MODERATE,,tolerated(0.15),benign(0.258),1;SYT14,missense_variant,p.P143H,ENST00000399639,,c.428C>A,MODERATE,,tolerated(0.25),probably_damaging(0.912),1;SYT14,3_prime_UTR_variant,,ENST00000637945,,c.*402C>A,MODIFIER,,,,1","Allele":"A","Gene":"ENSG00000143469","Feature":"ENST00000472886","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"556/2966","CDS_position":"542/1668","Protein_position":"181/555","Amino_acids":"P/H","Codons":"cCc/cAc","Existing_variation":"COSV55054401","TRANSCRIPT_STRAND":1,"SYMBOL":"SYT14","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:23143","BIOTYPE":"protein_coding","CCDS":"CCDS31014.1","ENSP":"ENSP00000418901","SWISSPROT":"Q8NB59.145","UNIPARC":"UPI0000205DDE","UNIPROT_ISOFORM":"Q8NB59-1","RefSeq":"NM_001146264.3;NM_153262.4","APPRIS":"P1","SIFT":"tolerated(0.15)","PolyPhen":"benign(0.258)","EXON":"5/8","DOMAINS":"PANTHER:PTHR46129;PANTHER:PTHR46129:SF3","SOMATIC":"1","IMPACT":"MODERATE","VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","GENE_PHENO":"1","CONTEXT":"TACACCCTCAG","tumor_bam_uuid":"d9549534-68e0-4c00-8b60-270f4ae93047","normal_bam_uuid":"ea8da107-7777-4ddb-baec-a865766b75b8","case_id":"b36b7567-30d3-4d0c-84c4-b203986e0fdb","COSMIC":"COSM6061449;COSM6061450;COSM6061451","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"306","Hugo_Symbol":"ATOH8","Entrez_Gene_Id":84913,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr2","Start_Position":85754267,"End_Position":85754267,"Strand":"+","Variant_Classification":"Silent","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"G","Tumor_Sample_Barcode":"TCGA-55-A4DF-01A-11D-A24D-08","Matched_Norm_Sample_Barcode":"TCGA-55-A4DF-10A-01D-A24F-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"9b0086c6-b9d2-4307-87c2-3ad6d462d9b5","Matched_Norm_Sample_UUID":"b6d8e54f-06ff-47fe-b6a7-371417e180a0","HGVSc":"c.78C>G","HGVSp":"p.Leu26=","HGVSp_Short":"p.L26=","Transcript_ID":"ENST00000306279","Exon_Number":"1/3","t_depth":41,"t_ref_count":36,"t_alt_count":5,"n_depth":62,"all_effects":"ATOH8,synonymous_variant,p.L26=,ENST00000306279,NM_032827.7,c.78C>G,LOW,YES,,,1;ATOH8,intron_variant,,ENST00000469442,,n.519+2405C>G,MODIFIER,,,,1;ATOH8,upstream_gene_variant,,ENST00000463422,,,MODIFIER,,,,1","Allele":"G","Gene":"ENSG00000168874","Feature":"ENST00000306279","Feature_type":"Transcript","One_Consequence":"synonymous_variant","Consequence":"synonymous_variant","cDNA_position":"277/5658","CDS_position":"78/966","Protein_position":"26/321","Amino_acids":"L","Codons":"ctC/ctG","Existing_variation":"COSV60402417","TRANSCRIPT_STRAND":1,"SYMBOL":"ATOH8","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:24126","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS1985.1","ENSP":"ENSP00000304676","SWISSPROT":"Q96SQ7.143","UNIPARC":"UPI0000456DEB","UNIPROT_ISOFORM":"Q96SQ7-1","RefSeq":"NM_032827.7","MANE":"NM_032827.7","APPRIS":"P1","EXON":"1/3","DOMAINS":"Low_complexity_(Seg):seg","SOMATIC":"1","IMPACT":"LOW","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","CONTEXT":"AAGCTCAAGCG","tumor_bam_uuid":"228352b7-77ec-4b68-9731-0919b6b9e144","normal_bam_uuid":"47eacc7f-3755-4c32-a65e-bd6c1dc174fe","case_id":"362000e4-cf7c-48fc-93cc-8f5994b442ea","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"494","Hugo_Symbol":"OR2M3","Entrez_Gene_Id":127062,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr1","Start_Position":248203763,"End_Position":248203763,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"T","Tumor_Sample_Barcode":"TCGA-17-Z021-01A-01W-0746-08","Matched_Norm_Sample_Barcode":"TCGA-17-Z021-11A-01W-0746-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"9394b536-cd08-414b-86a3-c6491f967709","Matched_Norm_Sample_UUID":"a1ff951a-725c-47d8-b214-82737a73f2dd","HGVSc":"c.696G>T","HGVSp":"p.Glu232Asp","HGVSp_Short":"p.E232D","Transcript_ID":"ENST00000456743","Exon_Number":"1/1","t_depth":406,"t_ref_count":386,"t_alt_count":18,"n_depth":491,"all_effects":"OR2M3,missense_variant,p.E232D,ENST00000641626,,c.696G>T,MODERATE,YES,deleterious(0.04),benign(0.098),1;OR2M3,missense_variant,p.E232D,ENST00000456743,NM_001004689.1,c.696G>T,MODERATE,,deleterious(0.04),benign(0.098),1","Allele":"T","Gene":"ENSG00000228198","Feature":"ENST00000456743","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"734/1061","CDS_position":"696/939","Protein_position":"232/312","Amino_acids":"E/D","Codons":"gaG/gaT","Existing_variation":"COSV101513447","TRANSCRIPT_STRAND":1,"SYMBOL":"OR2M3","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:8269","BIOTYPE":"protein_coding","CCDS":"CCDS31107.1","ENSP":"ENSP00000389625","SWISSPROT":"Q8NG83.136","TREMBL":"A0A126GV67.28","UNIPARC":"UPI000004B234","RefSeq":"NM_001004689.1","APPRIS":"P1","SIFT":"deleterious(0.04)","PolyPhen":"benign(0.098)","EXON":"1/1","DOMAINS":"Gene3D:1.20.1070.10;Pfam:PF13853;PROSITE_profiles:PS50262;PANTHER:PTHR26453;PANTHER:PTHR26453:SF639;SMART:SM01381;Superfamily:SSF81321;CDD:cd15421","SOMATIC":"1","IMPACT":"MODERATE","VARIANT_CLASS":"SNV","PHENO":"1","CONTEXT":"GGAGAGGGTCG","tumor_bam_uuid":"956a7bca-cbe3-4ac9-81a9-0096e5da2eb5","normal_bam_uuid":"d6de1d61-ee0e-4929-b998-cefd01a4f8cc","case_id":"a56d2b48-375d-4193-91a9-f589c39523fb","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2"}
{"X1":"171","Hugo_Symbol":"HOXA13","Entrez_Gene_Id":3209,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr7","Start_Position":27199198,"End_Position":27199198,"Strand":"+","Variant_Classification":"Nonsense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-86-7713-01A-11D-2063-08","Matched_Norm_Sample_Barcode":"TCGA-86-7713-10A-01D-2063-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"1416b4c9-f535-4611-b4b9-85fbd0f7b0a4","Matched_Norm_Sample_UUID":"4929c3d1-f4da-4766-9d13-85b5c7babf4c","HGVSc":"c.880G>T","HGVSp":"p.Glu294Ter","HGVSp_Short":"p.E294*","Transcript_ID":"ENST00000649031","Exon_Number":"1/2","t_depth":52,"t_ref_count":35,"t_alt_count":17,"n_depth":62,"all_effects":"HOXA13,stop_gained,p.E294*,ENST00000649031,NM_000522.5,c.880G>T,HIGH,YES,,,-1;AC004080.16,upstream_gene_variant,,ENST00000616633,,,MODIFIER,YES,,,1;AC004080.10,upstream_gene_variant,,ENST00000619957,,,MODIFIER,YES,,,1;AC004080.9,upstream_gene_variant,,ENST00000620415,,,MODIFIER,YES,,,1;HOXA13,upstream_gene_variant,,ENST00000518136,,,MODIFIER,,,,-1;HOTTIP,intron_variant,,ENST00000421733,,n.167+457C>A,MODIFIER,,,,1;HOTTIP,upstream_gene_variant,,ENST00000472494,,,MODIFIER,,,,1;HOTTIP,upstream_gene_variant,,ENST00000521028,,,MODIFIER,YES,,,1;HOTTIP,upstream_gene_variant,,ENST00000605136,,,MODIFIER,,,,1","Allele":"A","Gene":"ENSG00000106031","Feature":"ENST00000649031","Feature_type":"Transcript","One_Consequence":"stop_gained","Consequence":"stop_gained","cDNA_position":"894/5015","CDS_position":"880/1167","Protein_position":"294/388","Amino_acids":"E/*","Codons":"Gag/Tag","Existing_variation":"COSV56083138","TRANSCRIPT_STRAND":-1,"SYMBOL":"HOXA13","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:5102","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS5412.1","ENSP":"ENSP00000497112","SWISSPROT":"P31271.189","UNIPARC":"UPI000013C812","RefSeq":"NM_000522.5","MANE":"NM_000522.5","APPRIS":"P1","EXON":"1/2","DOMAINS":"PANTHER:PTHR45804:SF3;PANTHER:PTHR45804;Gene3D:1.10.10.60","SOMATIC":"1","IMPACT":"HIGH","VARIANT_CLASS":"SNV","PHENO":"1","GENE_PHENO":"1","CONTEXT":"CTGCTCTTTGG","tumor_bam_uuid":"bd233b3e-6a9c-4ee7-9831-9cdc23f1acc1","normal_bam_uuid":"002901f2-82b7-4839-9b6b-9e2eaa849949","case_id":"cc68632c-b1e3-491b-b562-9468e2d1c101","COSMIC":"COSM1549700","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"182","Hugo_Symbol":"ERBB3","Entrez_Gene_Id":2065,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr12","Start_Position":56088753,"End_Position":56088753,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-MN-A4N4-01A-12D-A24P-08","Matched_Norm_Sample_Barcode":"TCGA-MN-A4N4-10A-01D-A24P-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"5395ae5d-e85e-4307-a848-1a34b409df82","Matched_Norm_Sample_UUID":"2d5beab9-6d45-4d0e-b961-dcc8cb510d36","HGVSc":"c.994G>A","HGVSp":"p.Glu332Lys","HGVSp_Short":"p.E332K","Transcript_ID":"ENST00000267101","Exon_Number":"9/28","t_depth":144,"t_ref_count":112,"t_alt_count":32,"n_depth":191,"all_effects":"ERBB3,missense_variant,p.E332K,ENST00000267101,NM_001982.4,c.994G>A,MODERATE,YES,tolerated(0.15),benign(0.058),1;ERBB3,missense_variant,p.E273K,ENST00000415288,,c.817G>A,MODERATE,,tolerated(0.16),benign(0.058),1;ERBB3,downstream_gene_variant,,ENST00000411731,NM_001005915.1,,MODIFIER,,,,1;ERBB3,downstream_gene_variant,,ENST00000549061,,,MODIFIER,,,,1;ERBB3,downstream_gene_variant,,ENST00000549282,,,MODIFIER,,,,1;ERBB3,downstream_gene_variant,,ENST00000549672,,,MODIFIER,,,,1;ERBB3,upstream_gene_variant,,ENST00000550828,,,MODIFIER,,,,1;ERBB3,downstream_gene_variant,,ENST00000643266,,,MODIFIER,,,,1;ERBB3,missense_variant,p.E332K,ENST00000551085,,c.994G>A,MODERATE,,tolerated(0.16),possibly_damaging(0.537),1;ERBB3,non_coding_transcript_exon_variant,,ENST00000546748,,n.459G>A,MODIFIER,,,,1;ERBB3,non_coding_transcript_exon_variant,,ENST00000551176,,n.34G>A,MODIFIER,,,,1;ERBB3,intron_variant,,ENST00000550869,,c.25-5728G>A,MODIFIER,,,,1;ERBB3,intron_variant,,ENST00000551242,,c.988+97G>A,MODIFIER,,,,1;ERBB3,downstream_gene_variant,,ENST00000546884,,,MODIFIER,,,,1;ERBB3,upstream_gene_variant,,ENST00000549205,,,MODIFIER,,,,1;ERBB3,downstream_gene_variant,,ENST00000549472,,,MODIFIER,,,,1","Allele":"A","Gene":"ENSG00000065361","Feature":"ENST00000267101","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"1130/5615","CDS_position":"994/4029","Protein_position":"332/1342","Amino_acids":"E/K","Codons":"Gag/Aag","Existing_variation":"COSV57246601;COSV57252959","TRANSCRIPT_STRAND":1,"SYMBOL":"ERBB3","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:3431","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS31833.1","ENSP":"ENSP00000267101","SWISSPROT":"P21860.227","UNIPARC":"UPI000012A113","UNIPROT_ISOFORM":"P21860-1","RefSeq":"NM_001982.4","MANE":"NM_001982.4","APPRIS":"P1","SIFT":"tolerated(0.15)","PolyPhen":"benign(0.058)","EXON":"9/28","DOMAINS":"PDB-ENSP_mappings:1m6b.A;PDB-ENSP_mappings:1m6b.B;PDB-ENSP_mappings:3p11.A;PDB-ENSP_mappings:4leo.C;PDB-ENSP_mappings:4p59.A;PDB-ENSP_mappings:5cus.A;PDB-ENSP_mappings:5cus.B;PDB-ENSP_mappings:5cus.C;PDB-ENSP_mappings:5cus.D;PDB-ENSP_mappings:5o4o.C;PDB-ENSP_mappings:5o7p.C;PANTHER:PTHR24416:SF88;PANTHER:PTHR24416;Pfam:PF00757;Gene3D:3.80.20.20;PIRSF:PIRSF000619;Superfamily:SSF52058;Superfamily:SSF57184","SOMATIC":"1;1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1;1","GENE_PHENO":"1","CONTEXT":"CCTGTGAGGGA","tumor_bam_uuid":"3e5810ce-ba8a-4ec5-b820-2c396b5d2fd1","normal_bam_uuid":"e7719b9e-3ee4-4ee4-8a24-ee7288ce1ffe","case_id":"ceead734-1ce0-4385-b65a-a9c853b7308e","COSMIC":"COSM1747136;COSM254677","hotspot":"Y","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"476","Hugo_Symbol":"NUMA1","Entrez_Gene_Id":4926,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr11","Start_Position":72004033,"End_Position":72004033,"Strand":"+","Variant_Classification":"Silent","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"A","dbSNP_RS":"rs762132845","Tumor_Sample_Barcode":"TCGA-75-5122-01A-01D-1753-08","Matched_Norm_Sample_Barcode":"TCGA-75-5122-10A-01D-1753-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"e359b24f-7312-432f-b054-68dedc027df2","Matched_Norm_Sample_UUID":"a7bd52d4-5248-4a03-ac40-1169fe1d45f7","HGVSc":"c.6190C>T","HGVSp":"p.Leu2064=","HGVSp_Short":"p.L2064=","Transcript_ID":"ENST00000393695","Exon_Number":"26/27","t_depth":202,"t_ref_count":190,"t_alt_count":11,"n_depth":136,"all_effects":"NUMA1,synonymous_variant,p.L2050=,ENST00000358965,NM_001286561.1,c.6148C>T,LOW,,,,-1;NUMA1,synonymous_variant,p.L2064=,ENST00000393695,NM_006185.4,c.6190C>T,LOW,YES,,,-1;NUMA1,synonymous_variant,p.L2050=,ENST00000620566,,c.6148C>T,LOW,,,,-1;NUMA1,synonymous_variant,p.L2048=,ENST00000616538,,c.6142C>T,LOW,,,,-1;NUMA1,synonymous_variant,p.L928=,ENST00000613205,,c.2782C>T,LOW,,,,-1;NUMA1,synonymous_variant,p.L928=,ENST00000351960,,c.2782C>T,LOW,,,,-1;NUMA1,synonymous_variant,p.L913=,ENST00000541584,,c.2737C>T,LOW,,,,-1;IL18BP,downstream_gene_variant,,ENST00000260049,NM_001145057.1,,MODIFIER,,,,1;IL18BP,downstream_gene_variant,,ENST00000337131,,,MODIFIER,,,,1;IL18BP,downstream_gene_variant,,ENST00000393703,NM_001039660.2,,MODIFIER,,,,1;IL18BP,downstream_gene_variant,,ENST00000393705,NM_001039659.1,,MODIFIER,,,,1;IL18BP,downstream_gene_variant,,ENST00000393707,NM_001145055.1,,MODIFIER,,,,1;IL18BP,downstream_gene_variant,,ENST00000404792,NM_173042.2,,MODIFIER,,,,1;IL18BP,downstream_gene_variant,,ENST00000497194,NM_005699.3,,MODIFIER,YES,,,1;IL18BP,downstream_gene_variant,,ENST00000531053,,,MODIFIER,,,,1;IL18BP,downstream_gene_variant,,ENST00000620017,NM_173044.2,,MODIFIER,,,,1;IL18BP,downstream_gene_variant,,ENST00000414358,,,MODIFIER,,,,1;IL18BP,downstream_gene_variant,,ENST00000525932,,,MODIFIER,,,,1;IL18BP,downstream_gene_variant,,ENST00000531777,,,MODIFIER,,,,1;NUMA1,downstream_gene_variant,,ENST00000541262,,,MODIFIER,,,,-1;NUMA1,non_coding_transcript_exon_variant,,ENST00000540626,,n.1455C>T,MODIFIER,,,,-1;IL18BP,intron_variant,,ENST00000343898,,c.*908+1229G>A,MODIFIER,,,,1;IL18BP,downstream_gene_variant,,ENST00000534583,,,MODIFIER,,,,1;NUMA1,downstream_gene_variant,,ENST00000545721,,,MODIFIER,,,,-1;NUMA1,downstream_gene_variant,,ENST00000546036,,,MODIFIER,,,,-1","Allele":"A","Gene":"ENSG00000137497","Feature":"ENST00000393695","Feature_type":"Transcript","One_Consequence":"synonymous_variant","Consequence":"synonymous_variant","cDNA_position":"6377/7198","CDS_position":"6190/6348","Protein_position":"2064/2115","Amino_acids":"L","Codons":"Ctg/Ttg","Existing_variation":"rs762132845;COSV52620496;COSV99475031","TRANSCRIPT_STRAND":-1,"SYMBOL":"NUMA1","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:8059","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS31633.1","ENSP":"ENSP00000377298","SWISSPROT":"Q14980.187","UNIPARC":"UPI000013DB8B","UNIPROT_ISOFORM":"Q14980-1","RefSeq":"NM_006185.4","MANE":"NM_006185.4","APPRIS":"P4","EXON":"26/27","DOMAINS":"MobiDB_lite:mobidb-lite;PANTHER:PTHR18902;PANTHER:PTHR18902:SF24","gnomAD_AF":"3.983e-06","gnomAD_AFR_AF":"0","gnomAD_AMR_AF":"0","gnomAD_ASJ_AF":"0","gnomAD_EAS_AF":"5.44e-05","gnomAD_FIN_AF":"0","gnomAD_NFE_AF":"0","gnomAD_OTH_AF":"0","gnomAD_SAS_AF":"0","MAX_AF":"5.44e-05","MAX_AF_POPS":"gnomAD_EAS","SOMATIC":"0;1;1","IMPACT":"LOW","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"0;1;1","GENE_PHENO":"1","CONTEXT":"CCGCAGAAGGC","tumor_bam_uuid":"fb6b0588-999d-4550-9059-79aef542ef96","normal_bam_uuid":"d2de49c3-cb4b-4a02-9e90-e8ece82c0ffb","case_id":"78ae716b-0ca5-4c01-a053-d41288385fcd","COSMIC":"COSM4770898","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2"}
{"X1":"393","Hugo_Symbol":"PTPRD","Entrez_Gene_Id":5789,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr9","Start_Position":8500934,"End_Position":8500934,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"T","Tumor_Seq_Allele1":"T","Tumor_Seq_Allele2":"G","dbSNP_RS":"novel","Tumor_Sample_Barcode":"TCGA-17-Z042-01A-01W-0746-08","Matched_Norm_Sample_Barcode":"TCGA-17-Z042-11A-01W-0746-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"3c303c9d-6cda-490d-a64d-21bc40b064f3","Matched_Norm_Sample_UUID":"5448ca84-dc5f-435d-866b-1d6366803929","HGVSc":"c.1948A>C","HGVSp":"p.Thr650Pro","HGVSp_Short":"p.T650P","Transcript_ID":"ENST00000356435","Exon_Number":"13/35","t_depth":135,"t_ref_count":109,"t_alt_count":26,"n_depth":127,"all_effects":"PTPRD,missense_variant,p.T650P,ENST00000381196,NM_002839.4,c.1948A>C,MODERATE,YES,tolerated(0.23),benign(0.266),-1;PTPRD,missense_variant,p.T650P,ENST00000356435,NM_001378058.1&NM_001377958.1,c.1948A>C,MODERATE,,tolerated(0.23),benign(0.266),-1;PTPRD,missense_variant,p.T650P,ENST00000540109,,c.1948A>C,MODERATE,,tolerated(0.23),benign(0.266),-1;PTPRD,intron_variant,,ENST00000355233,NM_130392.3,c.1822+3327A>C,MODIFIER,,,,-1;PTPRD,intron_variant,,ENST00000397606,NM_001171025.2&NM_001377946.1,c.1792+3327A>C,MODIFIER,,,,-1;PTPRD,intron_variant,,ENST00000397611,NM_001377947.1&NM_001040712.2,c.1813+3327A>C,MODIFIER,,,,-1;PTPRD,intron_variant,,ENST00000397617,,c.1792+3327A>C,MODIFIER,,,,-1;PTPRD,intron_variant,,ENST00000486161,NM_130391.4,c.1822+3327A>C,MODIFIER,,,,-1;PTPRD,intron_variant,,ENST00000537002,NM_130393.3,c.1804+3327A>C,MODIFIER,,,,-1;PTPRD,non_coding_transcript_exon_variant,,ENST00000471274,,n.126A>C,MODIFIER,,,,-1;PTPRD,intron_variant,,ENST00000651105,,n.1465-1094A>C,MODIFIER,,,,-1","Allele":"G","Gene":"ENSG00000153707","Feature":"ENST00000356435","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"2054/9472","CDS_position":"1948/5739","Protein_position":"650/1912","Amino_acids":"T/P","Codons":"Act/Cct","TRANSCRIPT_STRAND":-1,"SYMBOL":"PTPRD","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:9668","BIOTYPE":"protein_coding","CCDS":"CCDS43786.1","ENSP":"ENSP00000348812","SWISSPROT":"P23468.211","UNIPARC":"UPI0000132990","UNIPROT_ISOFORM":"P23468-1","RefSeq":"NM_001378058.1;NM_001377958.1","APPRIS":"P1","SIFT":"tolerated(0.23)","PolyPhen":"benign(0.266)","EXON":"13/35","DOMAINS":"Gene3D:2.60.40.10;Pfam:PF00041;PROSITE_profiles:PS50853;PANTHER:PTHR19134;PANTHER:PTHR19134:SF203;SMART:SM00060;Superfamily:SSF49265;CDD:cd00063","IMPACT":"MODERATE","VARIANT_CLASS":"SNV","TSL":5,"GENE_PHENO":"1","CONTEXT":"TGCAGTGTACT","tumor_bam_uuid":"f2a6b651-c69e-43c5-b13d-970b0ca10c8b","normal_bam_uuid":"b5fbc9d1-d9a4-45de-b7e1-87e7b99c7071","case_id":"56027785-fb10-492c-b021-ea9e3a1979db","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"268","Hugo_Symbol":"OR4L1","Entrez_Gene_Id":122742,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr14","Start_Position":20060948,"End_Position":20060948,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"T","dbSNP_RS":"rs764455064","Tumor_Sample_Barcode":"TCGA-44-5643-01A-01D-1625-08","Matched_Norm_Sample_Barcode":"TCGA-44-5643-10A-01D-1625-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"44286013-ae97-4890-86d3-1163285ac0cd","Matched_Norm_Sample_UUID":"8d3a637e-f628-4eb8-b11c-8fe0153cb671","HGVSc":"c.904C>T","HGVSp":"p.Arg302Trp","HGVSp_Short":"p.R302W","Transcript_ID":"ENST00000315683","Exon_Number":"1/1","t_depth":46,"t_ref_count":34,"t_alt_count":12,"n_depth":62,"all_effects":"OR4L1,missense_variant,p.R302W,ENST00000315683,NM_001004717.1,c.904C>T,MODERATE,YES,tolerated(0.24),benign(0.003),1","Allele":"T","Gene":"ENSG00000176246","Feature":"ENST00000315683","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"904/939","CDS_position":"904/939","Protein_position":"302/312","Amino_acids":"R/W","Codons":"Cgg/Tgg","Existing_variation":"rs764455064;COSV59849706","TRANSCRIPT_STRAND":1,"SYMBOL":"OR4L1","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:15356","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS32029.1","ENSP":"ENSP00000319217","SWISSPROT":"Q8NH43.134","UNIPARC":"UPI0000041CE3","RefSeq":"NM_001004717.1","MANE":"NM_001004717.1","APPRIS":"P1","SIFT":"tolerated(0.24)","PolyPhen":"benign(0.003)","EXON":"1/1","DOMAINS":"PANTHER:PTHR26451;PANTHER:PTHR26451:SF221;Gene3D:1.20.1070.10;Superfamily:SSF81321","gnomAD_AF":"1.922e-05","gnomAD_AFR_AF":"6.492e-05","gnomAD_AMR_AF":"0","gnomAD_ASJ_AF":"0","gnomAD_EAS_AF":"5.955e-05","gnomAD_FIN_AF":"0","gnomAD_NFE_AF":"1.012e-05","gnomAD_OTH_AF":"0","gnomAD_SAS_AF":"5.111e-05","MAX_AF":"6.492e-05","MAX_AF_POPS":"gnomAD_AFR","gnomAD_non_cancer_AF":"1.35274003696395e-05","gnomAD_non_cancer_AFR_AF":"0","gnomAD_non_cancer_AMI_AF":"0","gnomAD_non_cancer_AMR_AF":"0","gnomAD_non_cancer_ASJ_AF":"0","gnomAD_non_cancer_EAS_AF":"0","gnomAD_non_cancer_FIN_AF":"9.44822022574954e-05","gnomAD_non_cancer_MID_AF":"0","gnomAD_non_cancer_NFE_AF":"0","gnomAD_non_cancer_OTH_AF":"0","gnomAD_non_cancer_SAS_AF":"0.00020833300368394","SOMATIC":"0;1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","PHENO":"0;1","CONTEXT":"AATTACGGTTC","tumor_bam_uuid":"7534d121-f71f-4377-9c05-e23486c54c32","normal_bam_uuid":"8cd99602-3c59-4680-8e38-8eba42668f9a","case_id":"27fceec1-3298-4cdd-a4e6-8f5cf34604f0","COSMIC":"COSM262621","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2"}
{"X1":"138","Hugo_Symbol":"CES1","Entrez_Gene_Id":1066,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr16","Start_Position":55828843,"End_Position":55828843,"Strand":"+","Variant_Classification":"Nonsense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"A","dbSNP_RS":"rs1331316256","Tumor_Sample_Barcode":"TCGA-55-A490-01A-11D-A24D-08","Matched_Norm_Sample_Barcode":"TCGA-55-A490-10A-01D-A24F-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"74d5cba2-8a3c-454c-8f94-e8d477dca675","Matched_Norm_Sample_UUID":"41817231-26ea-46b4-9568-170042b1bbfd","HGVSc":"c.181G>T","HGVSp":"p.Gly61Ter","HGVSp_Short":"p.G61*","Transcript_ID":"ENST00000361503","Exon_Number":"2/14","t_depth":39,"t_ref_count":32,"t_alt_count":6,"n_depth":61,"all_effects":"CES1,stop_gained,p.G61*,ENST00000422046,NM_001266.5,c.181G>T,HIGH,,,,-1;CES1,stop_gained,p.G62*,ENST00000360526,NM_001025195.2,c.184G>T,HIGH,YES,,,-1;CES1,stop_gained,p.G61*,ENST00000361503,NM_001025194.2,c.181G>T,HIGH,,,,-1;CES1,upstream_gene_variant,,ENST00000566555,,,MODIFIER,,,,-1;CES1,intron_variant,,ENST00000563005,,n.94-2548G>T,MODIFIER,,,,-1;CES1,intron_variant,,ENST00000565403,,n.101+4161G>T,MODIFIER,,,,-1","Allele":"A","Gene":"ENSG00000198848","Feature":"ENST00000361503","Feature_type":"Transcript","One_Consequence":"stop_gained","Consequence":"stop_gained","cDNA_position":"312/1835","CDS_position":"181/1704","Protein_position":"61/567","Amino_acids":"G/*","Codons":"Gga/Tga","Existing_variation":"rs1331316256","TRANSCRIPT_STRAND":-1,"SYMBOL":"CES1","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:1863","BIOTYPE":"protein_coding","CCDS":"CCDS45488.1","ENSP":"ENSP00000355193","SWISSPROT":"P23141.201","UNIPARC":"UPI000004A443","UNIPROT_ISOFORM":"P23141-1","RefSeq":"NM_001025194.2","APPRIS":"A2","EXON":"2/14","DOMAINS":"PDB-ENSP_mappings:1mx1.A;PDB-ENSP_mappings:1mx1.B;PDB-ENSP_mappings:1mx1.C;PDB-ENSP_mappings:1mx1.D;PDB-ENSP_mappings:1mx1.E;PDB-ENSP_mappings:1mx1.F;PDB-ENSP_mappings:1mx5.A;PDB-ENSP_mappings:1mx5.B;PDB-ENSP_mappings:1mx5.C;PDB-ENSP_mappings:1mx5.D;PDB-ENSP_mappings:1mx5.E;PDB-ENSP_mappings:1mx5.F;PDB-ENSP_mappings:1mx9.A;PDB-ENSP_mappings:1mx9.B;PDB-ENSP_mappings:1mx9.C;PDB-ENSP_mappings:1mx9.D;PDB-ENSP_mappings:1mx9.E;PDB-ENSP_mappings:1mx9.F;PDB-ENSP_mappings:1mx9.G;PDB-ENSP_mappings:1mx9.H;PDB-ENSP_mappings:1mx9.I;PDB-ENSP_mappings:1mx9.J;PDB-ENSP_mappings:1mx9.K;PDB-ENSP_mappings:1mx9.L;PDB-ENSP_mappings:1ya4.A;PDB-ENSP_mappings:1ya4.B;PDB-ENSP_mappings:1ya4.C;PDB-ENSP_mappings:1ya8.A;PDB-ENSP_mappings:1ya8.B;PDB-ENSP_mappings:1ya8.C;PDB-ENSP_mappings:1yah.A;PDB-ENSP_mappings:1yah.B;PDB-ENSP_mappings:1yah.C;PDB-ENSP_mappings:1yaj.A;PDB-ENSP_mappings:1yaj.B;PDB-ENSP_mappings:1yaj.C;PDB-ENSP_mappings:1yaj.D;PDB-ENSP_mappings:1yaj.E;PDB-ENSP_mappings:1yaj.F;PDB-ENSP_mappings:1yaj.G;PDB-ENSP_mappings:1yaj.H;PDB-ENSP_mappings:1yaj.I;PDB-ENSP_mappings:1yaj.J;PDB-ENSP_mappings:1yaj.K;PDB-ENSP_mappings:1yaj.L;PDB-ENSP_mappings:2dqy.A;PDB-ENSP_mappings:2dqy.B;PDB-ENSP_mappings:2dqy.C;PDB-ENSP_mappings:2dqz.A;PDB-ENSP_mappings:2dqz.B;PDB-ENSP_mappings:2dqz.C;PDB-ENSP_mappings:2dr0.A;PDB-ENSP_mappings:2dr0.B;PDB-ENSP_mappings:2dr0.C;PDB-ENSP_mappings:2h7c.A;PDB-ENSP_mappings:2h7c.B;PDB-ENSP_mappings:2h7c.C;PDB-ENSP_mappings:2h7c.D;PDB-ENSP_mappings:2h7c.E;PDB-ENSP_mappings:2h7c.F;PDB-ENSP_mappings:2hrq.A;PDB-ENSP_mappings:2hrq.B;PDB-ENSP_mappings:2hrq.C;PDB-ENSP_mappings:2hrq.D;PDB-ENSP_mappings:2hrq.E;PDB-ENSP_mappings:2hrq.F;PDB-ENSP_mappings:2hrr.A;PDB-ENSP_mappings:2hrr.B;PDB-ENSP_mappings:2hrr.C;PDB-ENSP_mappings:3k9b.A;PDB-ENSP_mappings:3k9b.B;PDB-ENSP_mappings:3k9b.C;PDB-ENSP_mappings:4ab1.A;PDB-ENSP_mappings:5a7f.A;PDB-ENSP_mappings:5a7g.A;PDB-ENSP_mappings:5a7h.A;CDD:cd00312;PANTHER:PTHR11559;PANTHER:PTHR11559:SF179;Pfam:PF00135;Gene3D:3.40.50.1820;Superfamily:SSF53474","IMPACT":"HIGH","VARIANT_CLASS":"SNV","TSL":1,"GENE_PHENO":"1","CONTEXT":"GGGTCCAAGAG","tumor_bam_uuid":"34ca0b9c-2356-4e07-bca5-c24b36aaa984","normal_bam_uuid":"d7238a70-7ce1-45c3-81f0-de772c95462d","case_id":"b89de053-d253-447f-952e-9a2edcf6bca5","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2"}
{"X1":"110","Hugo_Symbol":"PCLO","Entrez_Gene_Id":27445,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr7","Start_Position":82915183,"End_Position":82915183,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"G","Tumor_Sample_Barcode":"TCGA-55-1592-01A-01W-0928-08","Matched_Norm_Sample_Barcode":"TCGA-55-1592-11A-01D-0969-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"cbaad26c-c0a7-4159-bced-693fc457de02","Matched_Norm_Sample_UUID":"28c0bdc9-9dd1-4ce6-9254-e177f58970b8","HGVSc":"c.12803G>C","HGVSp":"p.Gly4268Ala","HGVSp_Short":"p.G4268A","Transcript_ID":"ENST00000333891","Exon_Number":"7/25","t_depth":17,"t_ref_count":13,"t_alt_count":4,"n_depth":43,"all_effects":"PCLO,missense_variant,p.G4268A,ENST00000333891,NM_033026.6,c.12803G>C,MODERATE,YES,tolerated(0.06),possibly_damaging(0.762),-1;PCLO,missense_variant,p.G4268A,ENST00000423517,NM_014510.3,c.12803G>C,MODERATE,,deleterious(0.04),possibly_damaging(0.762),-1;PCLO,missense_variant,p.G988A,ENST00000437081,,c.2963G>C,MODERATE,,tolerated_low_confidence(0.08),possibly_damaging(0.646),-1","Allele":"G","Gene":"ENSG00000186472","Feature":"ENST00000333891","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"13095/20284","CDS_position":"12803/15429","Protein_position":"4268/5142","Amino_acids":"G/A","Codons":"gGa/gCa","Existing_variation":"COSV61623793;COSV61640299","TRANSCRIPT_STRAND":-1,"SYMBOL":"PCLO","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:13406","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS47630.1","ENSP":"ENSP00000334319","SWISSPROT":"Q9Y6V0.188","UNIPARC":"UPI0001573469","UNIPROT_ISOFORM":"Q9Y6V0-5","RefSeq":"NM_033026.6","MANE":"NM_033026.6","APPRIS":"P1","SIFT":"tolerated(0.06)","PolyPhen":"possibly_damaging(0.762)","EXON":"7/25","DOMAINS":"PANTHER:PTHR14113;PANTHER:PTHR14113:SF6;Low_complexity_(Seg):seg","SOMATIC":"1;1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":2,"PHENO":"1;1","GENE_PHENO":"1","CONTEXT":"TATTTCCTAAT","tumor_bam_uuid":"65838192-8515-4231-94e3-8978a7741c8b","normal_bam_uuid":"d7de45c9-18b3-4595-895d-69739aa75192","case_id":"a41c46da-7ed4-4192-bd16-b3cbb94a5133","COSMIC":"COSM6111104;COSM6111105;COSM6111106","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"383","Hugo_Symbol":"AC004922.1","Entrez_Gene_Id":0,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr7","Start_Position":99358403,"End_Position":99358403,"Strand":"+","Variant_Classification":"Silent","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"T","dbSNP_RS":"rs368913591","Tumor_Sample_Barcode":"TCGA-NJ-A4YQ-01A-11D-A25L-08","Matched_Norm_Sample_Barcode":"TCGA-NJ-A4YQ-10A-01D-A25L-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"030aefdc-9ee8-4740-85ed-8c380265437a","Matched_Norm_Sample_UUID":"986b23fa-8ddd-45da-a28b-97c5ea6f69cd","HGVSc":"c.777C>T","HGVSp":"p.Ser259=","HGVSp_Short":"p.S259=","Transcript_ID":"ENST00000638617","Exon_Number":"7/17","t_depth":71,"t_ref_count":52,"t_alt_count":19,"n_depth":41,"all_effects":"AC004922.1,synonymous_variant,p.S259=,ENST00000638617,,c.777C>T,LOW,YES,,,1;ARPC1A,synonymous_variant,p.S259=,ENST00000262942,NM_001190996.1&NM_006409.4,c.777C>T,LOW,YES,,,1;ARPC1A,non_coding_transcript_exon_variant,,ENST00000471960,,n.251C>T,MODIFIER,,,,1;ARPC1A,upstream_gene_variant,,ENST00000463009,,,MODIFIER,,,,1;ARPC1A,splice_region_variant,p.S259=,ENST00000432786,,c.777C>T,LOW,,,,1;AC004922.1,3_prime_UTR_variant,,ENST00000441989,,c.*799C>T,MODIFIER,,,,1","Allele":"T","Gene":"ENSG00000284292","Feature":"ENST00000638617","Feature_type":"Transcript","One_Consequence":"synonymous_variant","Consequence":"synonymous_variant","cDNA_position":"932/2430","CDS_position":"777/2055","Protein_position":"259/684","Amino_acids":"S","Codons":"agC/agT","Existing_variation":"rs368913591","TRANSCRIPT_STRAND":1,"SYMBOL":"AC004922.1","SYMBOL_SOURCE":"Clone_based_ensembl_gene","BIOTYPE":"protein_coding","CANONICAL":"YES","ENSP":"ENSP00000491073","TREMBL":"A0A1W2PNV4.13","UNIPARC":"UPI00097BA602","APPRIS":"P1","EXON":"7/17","DOMAINS":"Gene3D:2.130.10.10;PANTHER:PTHR10709;PANTHER:PTHR10709:SF11;SMART:SM00320;Superfamily:SSF50978","ESP_AA_AF":"0.000227","ESP_EA_AF":"0.0001163","gnomAD_AF":"4.374e-05","gnomAD_AFR_AF":"0.0003076","gnomAD_AMR_AF":"0","gnomAD_ASJ_AF":"0","gnomAD_EAS_AF":"0","gnomAD_FIN_AF":"0","gnomAD_NFE_AF":"3.516e-05","gnomAD_OTH_AF":"0.0001629","gnomAD_SAS_AF":"3.266e-05","MAX_AF":"0.0003076","MAX_AF_POPS":"gnomAD_AFR","gnomAD_non_cancer_AF":"0.00016904200310818","gnomAD_non_cancer_AFR_AF":"0.0005593110108748","gnomAD_non_cancer_AMI_AF":"0","gnomAD_non_cancer_AMR_AF":"0","gnomAD_non_cancer_ASJ_AF":"0","gnomAD_non_cancer_EAS_AF":"0","gnomAD_non_cancer_FIN_AF":"0","gnomAD_non_cancer_MID_AF":"0","gnomAD_non_cancer_NFE_AF":"1.54311001097085e-05","gnomAD_non_cancer_OTH_AF":"0.00049553997814655","gnomAD_non_cancer_SAS_AF":"0","gnomAD_non_cancer_MAX_AF_adj":"0.0005593110108748","gnomAD_non_cancer_MAX_AF_POPS_adj":"afr","IMPACT":"LOW","VARIANT_CLASS":"SNV","TSL":5,"CONTEXT":"AACAGCGTCGT","tumor_bam_uuid":"f92c7033-1999-429c-9146-7cc868bd90de","normal_bam_uuid":"47a1ed88-3bfe-497e-aa70-9893b5c1275a","case_id":"52df074f-a402-4b78-9472-f8eb268efded","COSMIC":"COSM5358117;COSM5358118","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"552","Hugo_Symbol":"CILK1","Entrez_Gene_Id":22858,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr6","Start_Position":53005291,"End_Position":53005291,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"A","Tumor_Seq_Allele1":"A","Tumor_Seq_Allele2":"T","Tumor_Sample_Barcode":"TCGA-44-2666-01A-01D-A271-08","Matched_Norm_Sample_Barcode":"TCGA-44-2666-10A-01D-A271-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"c6103f88-d25a-476c-b620-61684e5a27b9","Matched_Norm_Sample_UUID":"71155acf-3bbd-454d-b4dc-024e26246e91","HGVSc":"c.1778T>A","HGVSp":"p.Leu593Gln","HGVSp_Short":"p.L593Q","Transcript_ID":"ENST00000350082","Exon_Number":"14/14","t_depth":60,"t_ref_count":47,"t_alt_count":13,"n_depth":63,"all_effects":"CILK1,missense_variant,p.L586Q,ENST00000356971,NM_016513.5&NM_001375401.1&NM_001375399.1&NM_001375398.1,c.1757T>A,MODERATE,,tolerated(0.33),possibly_damaging(0.714),-1;CILK1,missense_variant,p.L586Q,ENST00000676107,NM_014920.5&NM_001375400.1&NM_001375402.1,c.1757T>A,MODERATE,,tolerated(0.33),possibly_damaging(0.714),-1;CILK1,missense_variant,p.L593Q,ENST00000350082,NM_001375397.1,c.1778T>A,MODERATE,YES,tolerated(0.26),benign(0.233),-1","Allele":"T","Gene":"ENSG00000112144","Feature":"ENST00000350082","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"2125/6137","CDS_position":"1778/1920","Protein_position":"593/639","Amino_acids":"L/Q","Codons":"cTg/cAg","Existing_variation":"COSV63154726","TRANSCRIPT_STRAND":-1,"SYMBOL":"CILK1","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:21219","BIOTYPE":"protein_coding","CANONICAL":"YES","ENSP":"ENSP00000263043","UNIPARC":"UPI0005D02EBD","RefSeq":"NM_001375397.1","SIFT":"tolerated(0.26)","PolyPhen":"benign(0.233)","EXON":"14/14","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","GENE_PHENO":"1","CONTEXT":"CCTTCAGGGAG","tumor_bam_uuid":"4dbfd6c6-a637-4a56-b478-2fc91f597928","normal_bam_uuid":"81ead19b-eda8-41a7-afac-af60a0321e47","case_id":"e16ca88f-488b-40f0-9169-e5a62482a2ff","COSMIC":"COSM6107428","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"490","Hugo_Symbol":"KIF21A","Entrez_Gene_Id":55605,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr12","Start_Position":39322779,"End_Position":39322779,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-55-1592-01A-01D-0969-08","Matched_Norm_Sample_Barcode":"TCGA-55-1592-11A-01D-0969-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"1a09c2f5-cd26-4e6a-8993-c436312fdbb3","Matched_Norm_Sample_UUID":"28c0bdc9-9dd1-4ce6-9254-e177f58970b8","HGVSc":"c.3560C>T","HGVSp":"p.Thr1187Ile","HGVSp_Short":"p.T1187I","Transcript_ID":"ENST00000361418","Exon_Number":"27/38","t_depth":424,"t_ref_count":363,"t_alt_count":61,"n_depth":526,"all_effects":"KIF21A,missense_variant,p.T1174I,ENST00000361961,NM_017641.4&NM_001378441.1,c.3521C>T,MODERATE,,tolerated(0.45),benign(0),-1;KIF21A,missense_variant,p.T1187I,ENST00000361418,NM_001378440.1&NM_001173464.2&NM_001378439.1,c.3560C>T,MODERATE,YES,tolerated(0.36),benign(0),-1;KIF21A,missense_variant,p.T1165I,ENST00000636569,,c.3494C>T,MODERATE,,tolerated(0.41),benign(0.001),-1;KIF21A,missense_variant,p.T1167I,ENST00000544797,NM_001173463.2,c.3500C>T,MODERATE,,tolerated(0.44),benign(0.033),-1;KIF21A,missense_variant,p.T1151I,ENST00000541463,NM_001173465.2,c.3452C>T,MODERATE,,tolerated(0.38),benign(0),-1;KIF21A,missense_variant,p.T535I,ENST00000552961,,c.1604C>T,MODERATE,,tolerated(0.29),benign(0.003),-1;KIF21A,missense_variant,p.T228I,ENST00000551264,,c.683C>T,MODERATE,,tolerated(0.16),benign(0.003),-1;KIF21A,intron_variant,,ENST00000552475,,n.479-2766C>T,MODIFIER,,,,-1;KIF21A,missense_variant,p.T438I,ENST00000547108,,c.1313C>T,MODERATE,,tolerated(0.53),benign(0.003),-1","Allele":"A","Gene":"ENSG00000139116","Feature":"ENST00000361418","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"3710/6371","CDS_position":"3560/5025","Protein_position":"1187/1674","Amino_acids":"T/I","Codons":"aCa/aTa","Existing_variation":"COSV62772636","TRANSCRIPT_STRAND":-1,"SYMBOL":"KIF21A","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:19349","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS53776.1","ENSP":"ENSP00000354878","SWISSPROT":"Q7Z4S6.170","UNIPARC":"UPI0000212ED9","UNIPROT_ISOFORM":"Q7Z4S6-1","RefSeq":"NM_001378440.1;NM_001173464.2;NM_001378439.1","MANE":"NM_001173464.2","APPRIS":"P4","SIFT":"tolerated(0.36)","PolyPhen":"benign(0)","EXON":"27/38","DOMAINS":"PANTHER:PTHR24115;PANTHER:PTHR24115:SF398;MobiDB_lite:mobidb-lite","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","GENE_PHENO":"1","CONTEXT":"CAGGTGTGAGA","tumor_bam_uuid":"869d174e-c4b8-4e62-b0b5-30bfd37c4ed4","normal_bam_uuid":"d7de45c9-18b3-4595-895d-69739aa75192","case_id":"a41c46da-7ed4-4192-bd16-b3cbb94a5133","COSMIC":"COSM6072398;COSM6072399","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"497","Hugo_Symbol":"TFDP1","Entrez_Gene_Id":7027,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr13","Start_Position":113636019,"End_Position":113636019,"Strand":"+","Variant_Classification":"Nonsense_Mutation","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"T","Tumor_Sample_Barcode":"TCGA-L9-A743-01A-43D-A397-08","Matched_Norm_Sample_Barcode":"TCGA-L9-A743-10A-01D-A39A-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"21bdfeca-92f8-4a46-b7f0-e7743b86d5ca","Matched_Norm_Sample_UUID":"7f5fa8e5-d89d-48ef-b7af-285e5d3a14d4","HGVSc":"c.730G>T","HGVSp":"p.Glu244Ter","HGVSp_Short":"p.E244*","Transcript_ID":"ENST00000375370","Exon_Number":"9/12","t_depth":90,"t_ref_count":85,"t_alt_count":5,"n_depth":103,"all_effects":"TFDP1,stop_gained,p.E244*,ENST00000375370,NM_007111.5,c.730G>T,HIGH,YES,,,1;TFDP1,downstream_gene_variant,,ENST00000408980,,,MODIFIER,,,,1;TFDP1,downstream_gene_variant,,ENST00000453989,,,MODIFIER,,,,1;TFDP1,downstream_gene_variant,,ENST00000465174,,,MODIFIER,,,,1;TFDP1,downstream_gene_variant,,ENST00000475254,,,MODIFIER,,,,1;TFDP1,upstream_gene_variant,,ENST00000494812,,,MODIFIER,,,,1;TFDP1,3_prime_UTR_variant,,ENST00000544902,,c.*248G>T,MODIFIER,,,,1","Allele":"T","Gene":"ENSG00000198176","Feature":"ENST00000375370","Feature_type":"Transcript","One_Consequence":"stop_gained","Consequence":"stop_gained","cDNA_position":"930/2639","CDS_position":"730/1233","Protein_position":"244/410","Amino_acids":"E/*","Codons":"Gag/Tag","Existing_variation":"COSV100945682","TRANSCRIPT_STRAND":1,"SYMBOL":"TFDP1","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:11749","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS9538.1","ENSP":"ENSP00000364519","SWISSPROT":"Q14186.192","TREMBL":"A0A024RDY4.53","UNIPARC":"UPI0000000CB6","UNIPROT_ISOFORM":"Q14186-1","RefSeq":"NM_007111.5","MANE":"NM_007111.5","APPRIS":"P1","EXON":"9/12","DOMAINS":"PDB-ENSP_mappings:2aze.A;PDB-ENSP_mappings:5tuu.A;PDB-ENSP_mappings:5tuv.A;PDB-ENSP_mappings:5tuv.D;CDD:cd14458;PANTHER:PTHR12548;PANTHER:PTHR12548:SF4;Pfam:PF08781;Gene3D:1.20.140.80;PIRSF:PIRSF009404;SMART:SM01138;Superfamily:SSF144074","SOMATIC":"1","IMPACT":"HIGH","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","CONTEXT":"ATGCGGAGCAG","tumor_bam_uuid":"713ef8e1-68ff-4b3b-97fa-c0f6fc873d0c","normal_bam_uuid":"7d1949fb-86a1-43ae-af02-d290534e040a","case_id":"a5f2576a-d628-47de-a5df-76a4f3105dcc","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2"}
{"X1":"221","Hugo_Symbol":"SLC27A4","Entrez_Gene_Id":10999,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr9","Start_Position":128343181,"End_Position":128343181,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"T","Tumor_Sample_Barcode":"TCGA-50-6590-01A-12D-1855-08","Matched_Norm_Sample_Barcode":"TCGA-50-6590-11A-01D-1855-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"85de182b-f4ae-41e6-b3fb-f60f46c072e4","Matched_Norm_Sample_UUID":"6e545822-70c0-4ad2-baf9-76e9621e9bc6","HGVSc":"c.49G>T","HGVSp":"p.Val17Leu","HGVSp_Short":"p.V17L","Transcript_ID":"ENST00000300456","Exon_Number":"2/13","t_depth":39,"t_ref_count":29,"t_alt_count":10,"n_depth":58,"all_effects":"SLC27A4,missense_variant,p.V17L,ENST00000300456,NM_005094.4,c.49G>T,MODERATE,YES,tolerated(0.73),benign(0),1;SLC27A4,missense_variant,p.G44V,ENST00000372870,,c.131G>T,MODERATE,,deleterious(0.04),benign(0.265),1;TMSB4XP4,downstream_gene_variant,,ENST00000323496,,,MODIFIER,YES,,,1","Allele":"T","Gene":"ENSG00000167114","Feature":"ENST00000300456","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"367/3229","CDS_position":"49/1932","Protein_position":"17/643","Amino_acids":"V/L","Codons":"Gtg/Ttg","Existing_variation":"COSV55959578","TRANSCRIPT_STRAND":1,"SYMBOL":"SLC27A4","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:10998","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS6899.1","ENSP":"ENSP00000300456","SWISSPROT":"Q6P1M0.156","TREMBL":"A0A024R8D2.39","UNIPARC":"UPI0000038E80","UNIPROT_ISOFORM":"Q6P1M0-1","RefSeq":"NM_005094.4","MANE":"NM_005094.4","APPRIS":"P1","SIFT":"tolerated(0.73)","PolyPhen":"benign(0)","EXON":"2/13","DOMAINS":"PANTHER:PTHR43107:SF11;PANTHER:PTHR43107","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","GENE_PHENO":"1","CONTEXT":"AGCTGGTGCTG","tumor_bam_uuid":"c3a0209f-cdfd-4686-81f7-b07c2b00d75e","normal_bam_uuid":"e0041872-e3ac-4d87-a086-7a1bea75df2c","case_id":"114a34c0-983b-4d90-9181-1823c9637a63","COSMIC":"COSM6115121;COSM6115122","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"611","Hugo_Symbol":"PCDHA1","Entrez_Gene_Id":56147,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr5","Start_Position":140787782,"End_Position":140787782,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"T","Tumor_Sample_Barcode":"TCGA-49-4501-01A-01D-1265-08","Matched_Norm_Sample_Barcode":"TCGA-49-4501-11A-01D-1265-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"0c53bb1b-5e6f-44a8-97a0-f89d43e0e789","Matched_Norm_Sample_UUID":"3f0cb3e3-47ac-433e-af67-ae24596e7d6b","HGVSc":"c.1492C>T","HGVSp":"p.Arg498Trp","HGVSp_Short":"p.R498W","Transcript_ID":"ENST00000504120","Exon_Number":"1/4","t_depth":171,"t_ref_count":154,"t_alt_count":17,"n_depth":113,"all_effects":"PCDHA1,missense_variant,p.R498W,ENST00000504120,NM_018900.4,c.1492C>T,MODERATE,YES,deleterious_low_confidence(0.01),benign(0.081),1;PCDHA1,missense_variant,p.R498W,ENST00000378133,NM_031410.2,c.1492C>T,MODERATE,,deleterious_low_confidence(0.01),benign(0.105),1;PCDHA1,missense_variant,p.R498W,ENST00000394633,NM_031411.3,c.1492C>T,MODERATE,,deleterious_low_confidence(0.01),benign(0.019),1;AC005609.5,non_coding_transcript_exon_variant,,ENST00000655235,,n.1730G>A,MODIFIER,YES,,,-1;AC005609.5,downstream_gene_variant,,ENST00000624176,,,MODIFIER,,,,-1;AC005609.5,downstream_gene_variant,,ENST00000624712,,,MODIFIER,,,,-1;AC005609.5,downstream_gene_variant,,ENST00000660962,,,MODIFIER,,,,-1","Allele":"T","Gene":"ENSG00000204970","Feature":"ENST00000504120","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"1643/5414","CDS_position":"1492/2853","Protein_position":"498/950","Amino_acids":"R/W","Codons":"Cgg/Tgg","Existing_variation":"COSV65373454","TRANSCRIPT_STRAND":1,"SYMBOL":"PCDHA1","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:8663","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS54913.1","ENSP":"ENSP00000420840","SWISSPROT":"Q9Y5I3.171","UNIPARC":"UPI00001273C7","UNIPROT_ISOFORM":"Q9Y5I3-1","RefSeq":"NM_018900.4","MANE":"NM_018900.4","APPRIS":"P1","SIFT":"deleterious_low_confidence(0.01)","PolyPhen":"benign(0.081)","EXON":"1/4","DOMAINS":"Gene3D:2.60.40.60;Pfam:PF00028;PROSITE_profiles:PS50268;PANTHER:PTHR24028;PANTHER:PTHR24028:SF92;SMART:SM00112;Superfamily:SSF49313;CDD:cd11304","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","CONTEXT":"AACGGCGGGTG","tumor_bam_uuid":"c54b0fdb-6b41-4f53-8ced-5685adb616a9","normal_bam_uuid":"255ca933-4df2-4043-9ef9-2bad72683007","case_id":"0780eb43-d5b5-4c3d-9825-beacba5cc723","COSMIC":"COSM6101790;COSM6101791","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"343","Hugo_Symbol":"SAMHD1","Entrez_Gene_Id":25939,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr20","Start_Position":36912525,"End_Position":36912525,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"A","dbSNP_RS":"rs761616206","Tumor_Sample_Barcode":"TCGA-44-2656-01A-02W-0928-08","Matched_Norm_Sample_Barcode":"TCGA-44-2656-10A-01D-0969-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"b2773f71-23ca-4f92-99cb-1452846a1b36","Matched_Norm_Sample_UUID":"03b8420d-480f-48e1-88a7-8ee9917049a6","HGVSc":"c.1090C>T","HGVSp":"p.His364Tyr","HGVSp_Short":"p.H364Y","Transcript_ID":"ENST00000262878","Exon_Number":"10/15","t_depth":196,"t_ref_count":145,"t_alt_count":51,"n_depth":62,"all_effects":"SAMHD1,missense_variant,p.H364Y,ENST00000646673,NM_015474.4,c.1090C>T,MODERATE,YES,tolerated(0.19),benign(0.006),-1;SAMHD1,missense_variant,p.H364Y,ENST00000262878,NM_001363729.2,c.1090C>T,MODERATE,,tolerated(0.18),benign(0.068),-1;SAMHD1,missense_variant,p.H364Y,ENST00000643918,NM_001363733.2,c.1090C>T,MODERATE,,tolerated(0.18),benign(0.105),-1;SAMHD1,missense_variant,p.H294Y,ENST00000646066,,c.880C>T,MODERATE,,tolerated(0.4),benign(0.315),-1;SAMHD1,downstream_gene_variant,,ENST00000643161,,,MODIFIER,,,,-1;SAMHD1,missense_variant,p.H364Y,ENST00000646869,,c.1090C>T,MODERATE,,tolerated(0.19),benign(0.006),-1;SAMHD1,missense_variant,p.H340Y,ENST00000644114,,c.1018C>T,MODERATE,,tolerated(0.23),benign(0.068),-1;SAMHD1,3_prime_UTR_variant,,ENST00000645033,,c.*267C>T,MODIFIER,,,,-1;SAMHD1,3_prime_UTR_variant,,ENST00000646904,,c.*296C>T,MODIFIER,,,,-1;SAMHD1,3_prime_UTR_variant,,ENST00000642246,,c.*769C>T,MODIFIER,,,,-1;SAMHD1,3_prime_UTR_variant,,ENST00000645444,,c.*267C>T,MODIFIER,,,,-1;SAMHD1,3_prime_UTR_variant,,ENST00000647163,,c.*267C>T,MODIFIER,,,,-1;SAMHD1,3_prime_UTR_variant,,ENST00000642186,,c.*267C>T,MODIFIER,,,,-1;SAMHD1,3_prime_UTR_variant,,ENST00000642616,,c.*614C>T,MODIFIER,,,,-1;SAMHD1,3_prime_UTR_variant,,ENST00000643078,,c.*769C>T,MODIFIER,,,,-1;SAMHD1,non_coding_transcript_exon_variant,,ENST00000647095,,n.1161C>T,MODIFIER,,,,-1;SAMHD1,non_coding_transcript_exon_variant,,ENST00000647459,,n.1117C>T,MODIFIER,,,,-1;SAMHD1,non_coding_transcript_exon_variant,,ENST00000644688,,n.403C>T,MODIFIER,,,,-1;SAMHD1,downstream_gene_variant,,ENST00000646866,,,MODIFIER,,,,-1","Allele":"A","Gene":"ENSG00000101347","Feature":"ENST00000262878","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"1290/4334","CDS_position":"1090/1776","Protein_position":"364/591","Amino_acids":"H/Y","Codons":"Cac/Tac","Existing_variation":"rs761616206;COSV53428585","TRANSCRIPT_STRAND":-1,"SYMBOL":"SAMHD1","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:15925","BIOTYPE":"protein_coding","CCDS":"CCDS86953.1","ENSP":"ENSP00000262878","SWISSPROT":"Q9Y3Z3.187","UNIPARC":"UPI000333629C","UNIPROT_ISOFORM":"Q9Y3Z3-4","RefSeq":"NM_001363729.2","SIFT":"tolerated(0.18)","PolyPhen":"benign(0.068)","EXON":"10/15","DOMAINS":"Gene3D:1.10.3210.10;PANTHER:PTHR11373;Superfamily:SSF109604","SOMATIC":"0;1","IMPACT":"MODERATE","VARIANT_CLASS":"SNV","TSL":1,"PHENO":"0;1","GENE_PHENO":"1","CONTEXT":"AGTGTGGAACA","tumor_bam_uuid":"3543b887-5dbd-4038-b787-d7a6cb73842a","normal_bam_uuid":"ada4ffdf-3ba5-4ad0-8eb4-634d04b2b9b8","case_id":"42ca54fc-c1ae-41cd-bca1-7fe9810db460","COSMIC":"COSM6093225","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"202","Hugo_Symbol":"AGO2","Entrez_Gene_Id":27161,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr8","Start_Position":140544242,"End_Position":140544242,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"T","dbSNP_RS":"rs1564077207","Tumor_Sample_Barcode":"TCGA-78-7155-01A-11D-2036-08","Matched_Norm_Sample_Barcode":"TCGA-78-7155-10A-01D-2036-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"cf7882fa-4343-4c32-8940-2fc85cfb4c6e","Matched_Norm_Sample_UUID":"14233f2d-dd7b-4330-a079-0f7158397e28","HGVSc":"c.1810G>A","HGVSp":"p.Gly604Arg","HGVSp_Short":"p.G604R","Transcript_ID":"ENST00000220592","Exon_Number":"14/19","t_depth":162,"t_ref_count":152,"t_alt_count":10,"n_depth":183,"all_effects":"AGO2,missense_variant,p.G604R,ENST00000220592,NM_012154.5,c.1810G>A,MODERATE,YES,deleterious(0.02),possibly_damaging(0.484),-1;AGO2,missense_variant,p.G604R,ENST00000519980,NM_001164623.3,c.1810G>A,MODERATE,,deleterious(0.02),possibly_damaging(0.695),-1;AGO2,3_prime_UTR_variant,,ENST00000523609,,c.*1395G>A,MODIFIER,,,,-1;AGO2,upstream_gene_variant,,ENST00000519347,,,MODIFIER,,,,-1;AGO2,upstream_gene_variant,,ENST00000520412,,,MODIFIER,,,,-1","Allele":"T","Gene":"ENSG00000123908","Feature":"ENST00000220592","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"1937/14595","CDS_position":"1810/2580","Protein_position":"604/859","Amino_acids":"G/R","Codons":"Ggg/Agg","Existing_variation":"rs1564077207;COSV55047807","TRANSCRIPT_STRAND":-1,"SYMBOL":"AGO2","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:3263","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS6380.1","ENSP":"ENSP00000220592","SWISSPROT":"Q9UKV8.190","UNIPARC":"UPI0000168652","UNIPROT_ISOFORM":"Q9UKV8-1","RefSeq":"NM_012154.5","MANE":"NM_012154.5","APPRIS":"P1","SIFT":"deleterious(0.02)","PolyPhen":"possibly_damaging(0.484)","EXON":"14/19","DOMAINS":"Gene3D:3.30.420.10;PDB-ENSP_mappings:4f3t.A;PDB-ENSP_mappings:4ola.A;PDB-ENSP_mappings:4olb.A;PDB-ENSP_mappings:4w5n.A;PDB-ENSP_mappings:4w5o.A;PDB-ENSP_mappings:4w5q.A;PDB-ENSP_mappings:4w5r.A;PDB-ENSP_mappings:4w5t.A;PDB-ENSP_mappings:4z4c.A;PDB-ENSP_mappings:4z4d.A;PDB-ENSP_mappings:4z4e.A;PDB-ENSP_mappings:4z4f.A;PDB-ENSP_mappings:4z4g.A;PDB-ENSP_mappings:4z4h.A;PDB-ENSP_mappings:4z4i.A;PDB-ENSP_mappings:5js1.A;PDB-ENSP_mappings:5js2.A;PDB-ENSP_mappings:5ki6.A;PDB-ENSP_mappings:5t7b.A;PDB-ENSP_mappings:5wea.A;PDB-ENSP_mappings:6cbd.A;PDB-ENSP_mappings:6mdz.A;PDB-ENSP_mappings:6mdz.B;PDB-ENSP_mappings:6mfn.A;PDB-ENSP_mappings:6mfr.A;PDB-ENSP_mappings:6mfr.B;PDB-ENSP_mappings:6n4o.A;PDB-ENSP_mappings:6nit.A;PDB-ENSP_mappings:6nit.B;HAMAP:MF_03031;Pfam:PF02171;PROSITE_profiles:PS50822;PANTHER:PTHR22891;PANTHER:PTHR22891:SF59;SMART:SM00950;Superfamily:SSF53098;CDD:cd04657","SOMATIC":"0;1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"0;1","CONTEXT":"ATCCCCGGCGG","tumor_bam_uuid":"9b30db3c-976e-4bc8-9de8-6f786f1510ee","normal_bam_uuid":"56d63102-ab57-41ae-9908-d2c93e407d4d","case_id":"fc79086c-af9a-4c27-b074-f7050b6f3381","COSMIC":"COSM6180316","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2"}
{"X1":"396","Hugo_Symbol":"SPAG17","Entrez_Gene_Id":200162,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr1","Start_Position":117984753,"End_Position":117984753,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"A","Tumor_Seq_Allele1":"A","Tumor_Seq_Allele2":"T","Tumor_Sample_Barcode":"TCGA-97-A4M3-01A-11D-A24P-08","Matched_Norm_Sample_Barcode":"TCGA-97-A4M3-10A-01D-A24P-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"88680b50-91b8-43f4-a7a8-5685713761d9","Matched_Norm_Sample_UUID":"6e24551c-babf-4b33-b862-2d96666d96d8","HGVSc":"c.5699T>A","HGVSp":"p.Leu1900Gln","HGVSp_Short":"p.L1900Q","Transcript_ID":"ENST00000336338","Exon_Number":"41/49","t_depth":85,"t_ref_count":57,"t_alt_count":28,"n_depth":87,"all_effects":"SPAG17,missense_variant,p.L1900Q,ENST00000336338,NM_206996.4,c.5699T>A,MODERATE,YES,tolerated(0.1),probably_damaging(0.982),-1;SPAG17,missense_variant,p.L380Q,ENST00000437255,,c.1139T>A,MODERATE,,tolerated(0.11),possibly_damaging(0.81),-1;SPAG17,non_coding_transcript_exon_variant,,ENST00000483383,,n.189T>A,MODIFIER,,,,-1;SPAG17,upstream_gene_variant,,ENST00000492438,,,MODIFIER,,,,-1","Allele":"T","Gene":"ENSG00000155761","Feature":"ENST00000336338","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"5770/7203","CDS_position":"5699/6672","Protein_position":"1900/2223","Amino_acids":"L/Q","Codons":"cTa/cAa","Existing_variation":"COSV100308358","TRANSCRIPT_STRAND":-1,"SYMBOL":"SPAG17","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:26620","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS899.1","ENSP":"ENSP00000337804","SWISSPROT":"Q6Q759.123","UNIPARC":"UPI00001601FD","RefSeq":"NM_206996.4","MANE":"NM_206996.4","APPRIS":"P1","SIFT":"tolerated(0.1)","PolyPhen":"probably_damaging(0.982)","EXON":"41/49","DOMAINS":"Coiled-coils_(Ncoils):Coil;PANTHER:PTHR21963","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","GENE_PHENO":"1","CONTEXT":"CCATTAGGTAA","tumor_bam_uuid":"58025290-ce8e-4355-982e-f63d280d3831","normal_bam_uuid":"278dab30-f104-4f64-b56b-342cd09173fe","case_id":"575752f8-2788-43cd-afde-f0f600f39d18","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"159","Hugo_Symbol":"LRP4","Entrez_Gene_Id":4038,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr11","Start_Position":46875668,"End_Position":46875668,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-95-7043-01A-11D-1945-08","Matched_Norm_Sample_Barcode":"TCGA-95-7043-10A-01D-1946-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"86040fdc-caa7-4c13-af9c-c3f78b79930f","Matched_Norm_Sample_UUID":"7a16b2f7-cb45-4f60-a779-4455e89b1f1e","HGVSc":"c.3713C>T","HGVSp":"p.Ala1238Val","HGVSp_Short":"p.A1238V","Transcript_ID":"ENST00000378623","Exon_Number":"27/38","t_depth":41,"t_ref_count":25,"t_alt_count":16,"n_depth":40,"all_effects":"LRP4,missense_variant,p.A1238V,ENST00000378623,NM_002334.4,c.3713C>T,MODERATE,YES,tolerated(0.11),benign(0.141),-1;LRP4,upstream_gene_variant,,ENST00000527656,,,MODIFIER,,,,-1;LRP4-AS1,downstream_gene_variant,,ENST00000502049,,,MODIFIER,YES,,,1;LRP4-AS1,downstream_gene_variant,,ENST00000531719,,,MODIFIER,,,,1","Allele":"A","Gene":"ENSG00000134569","Feature":"ENST00000378623","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"3884/8155","CDS_position":"3713/5718","Protein_position":"1238/1905","Amino_acids":"A/V","Codons":"gCt/gTt","Existing_variation":"COSV66135704","TRANSCRIPT_STRAND":-1,"SYMBOL":"LRP4","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:6696","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS31478.1","ENSP":"ENSP00000367888","SWISSPROT":"O75096.171","UNIPARC":"UPI0000D625E9","RefSeq":"NM_002334.4","MANE":"NM_002334.4","APPRIS":"P1","SIFT":"tolerated(0.11)","PolyPhen":"benign(0.141)","EXON":"27/38","DOMAINS":"Gene3D:2.120.10.30;PROSITE_profiles:PS51120;PANTHER:PTHR24270;PANTHER:PTHR24270:SF14;SMART:SM00135;Superfamily:SSF63825","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","GENE_PHENO":"1","CONTEXT":"GGTCAGCAGCC","tumor_bam_uuid":"c903dfd7-c694-4941-880a-9d82737f919e","normal_bam_uuid":"08cc6968-549a-44e2-9ae2-394b37ed8b27","case_id":"c650b1ff-8a4c-4ee9-b7c1-268c28c83827","COSMIC":"COSM6132726","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"441","Hugo_Symbol":"SLFN11","Entrez_Gene_Id":91607,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr17","Start_Position":35360242,"End_Position":35360242,"Strand":"+","Variant_Classification":"Splice_Site","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-44-4112-01A-22D-A27T-08","Matched_Norm_Sample_Barcode":"TCGA-44-4112-10A-01D-1458-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"844ac3b7-b305-40a7-acea-643a62325fe7","Matched_Norm_Sample_UUID":"b31338fd-60d8-48c2-ab4d-cb5064995245","HGVSc":"c.1198+1G>T","HGVSp_Short":"p.X400_splice","Transcript_ID":"ENST00000308377","t_depth":96,"t_ref_count":63,"t_alt_count":33,"n_depth":184,"all_effects":"SLFN11,splice_donor_variant,p.X400_splice,ENST00000308377,NM_152270.4&NM_001376009.1&NM_001104589.2&NM_001376012.1,c.1198+1G>T,HIGH,,,,-1;SLFN11,splice_donor_variant,p.X400_splice,ENST00000394566,NM_001104590.2&NM_001376008.1&NM_001376011.1&NM_001104588.2&NM_001376007.1&NM_001376010.1&NM_001104587.2,c.1198+1G>T,HIGH,YES,,,-1;SLFN11,downstream_gene_variant,,ENST00000427966,,,MODIFIER,,,,-1;SLFN11,downstream_gene_variant,,ENST00000430814,,,MODIFIER,,,,-1;SLFN11,downstream_gene_variant,,ENST00000441608,,,MODIFIER,,,,-1;SLFN11,downstream_gene_variant,,ENST00000588579,,,MODIFIER,,,,-1;SLFN11,downstream_gene_variant,,ENST00000589811,,,MODIFIER,,,,-1;SLFN11,downstream_gene_variant,,ENST00000591682,,,MODIFIER,,,,-1;SLFN11,downstream_gene_variant,,ENST00000592122,,,MODIFIER,,,,-1;SLFN11,non_coding_transcript_exon_variant,,ENST00000586099,,n.356G>T,MODIFIER,,,,-1;SLFN11,downstream_gene_variant,,ENST00000589562,,,MODIFIER,,,,-1","Allele":"A","Gene":"ENSG00000172716","Feature":"ENST00000308377","Feature_type":"Transcript","One_Consequence":"splice_donor_variant","Consequence":"splice_donor_variant","Existing_variation":"COSV57697288","TRANSCRIPT_STRAND":-1,"SYMBOL":"SLFN11","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:26633","BIOTYPE":"protein_coding","CCDS":"CCDS11294.1","ENSP":"ENSP00000312402","SWISSPROT":"Q7Z7L1.140","UNIPARC":"UPI0000140B0E","RefSeq":"NM_152270.4;NM_001376009.1;NM_001104589.2;NM_001376012.1","APPRIS":"P1","INTRON":"3/4","SOMATIC":"1","IMPACT":"HIGH","VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","CONTEXT":"AATTACCTGAA","tumor_bam_uuid":"0aae9cc6-eee2-498f-ba30-c41dddef3ce8","normal_bam_uuid":"5ebb5783-b0ba-4f85-8620-a4c3aaa3f9e0","case_id":"68b86559-38b2-41f2-b66e-c3c2b628b14d","COSMIC":"COSM6080576","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"475","Hugo_Symbol":"GPR101","Entrez_Gene_Id":83550,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chrX","Start_Position":137031568,"End_Position":137031568,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"A","dbSNP_RS":"rs749244228","Tumor_Sample_Barcode":"TCGA-05-4427-01A-21D-1855-08","Matched_Norm_Sample_Barcode":"TCGA-05-4427-10A-01D-1855-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"736e0134-8b1a-4ff1-9106-ca09c9812ef6","Matched_Norm_Sample_UUID":"486af110-e61e-4e67-b5fa-f0eef31227cb","HGVSc":"c.107C>T","HGVSp":"p.Thr36Ile","HGVSp_Short":"p.T36I","Transcript_ID":"ENST00000651716","Exon_Number":"2/2","t_depth":93,"t_ref_count":81,"t_alt_count":12,"n_depth":104,"all_effects":"GPR101,missense_variant,p.T36I,ENST00000651716,NM_054021.2,c.107C>T,MODERATE,YES,tolerated(0.52),benign(0),-1","Allele":"A","Gene":"ENSG00000165370","Feature":"ENST00000651716","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"393/8032","CDS_position":"107/1527","Protein_position":"36/508","Amino_acids":"T/I","Codons":"aCc/aTc","Existing_variation":"rs749244228;COSV99981594","TRANSCRIPT_STRAND":-1,"SYMBOL":"GPR101","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:14963","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS14662.1","ENSP":"ENSP00000498972","SWISSPROT":"Q96P66.139","UNIPARC":"UPI000003BCCD","RefSeq":"NM_054021.2","MANE":"NM_054021.2","APPRIS":"P1","SIFT":"tolerated(0.52)","PolyPhen":"benign(0)","EXON":"2/2","DOMAINS":"Gene3D:1.20.1070.10;Prints:PR00237;PANTHER:PTHR24248;PANTHER:PTHR24248:SF2;Superfamily:SSF81321;Transmembrane_helices:TMhelix;CDD:cd15215","gnomAD_AF":"5.488e-06","gnomAD_AFR_AF":"0","gnomAD_AMR_AF":"0","gnomAD_ASJ_AF":"0","gnomAD_EAS_AF":"0","gnomAD_FIN_AF":"0","gnomAD_NFE_AF":"0","gnomAD_OTH_AF":"0","gnomAD_SAS_AF":"5.291e-05","MAX_AF":"5.291e-05","MAX_AF_POPS":"gnomAD_SAS","SOMATIC":"0;1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","PHENO":"0;1","GENE_PHENO":"1","CONTEXT":"GCACGGTTGAG","tumor_bam_uuid":"db10f9f9-4375-4197-a905-692f64066021","normal_bam_uuid":"b3aca9b1-aee3-4a6c-b1b5-3216a736f741","case_id":"78a24c56-576c-4245-bb42-6603b3d19897","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"400","Hugo_Symbol":"RPRD1B","Entrez_Gene_Id":58490,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr20","Start_Position":38066187,"End_Position":38066187,"Strand":"+","Variant_Classification":"Silent","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-NJ-A4YF-01A-12D-A25L-08","Matched_Norm_Sample_Barcode":"TCGA-NJ-A4YF-10A-01D-A25L-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"3052fdbb-2e49-4d68-91b9-993bd2d6d6b1","Matched_Norm_Sample_UUID":"169d6639-f7f7-4c2c-a72f-0add3e667da6","HGVSc":"c.762G>A","HGVSp":"p.Leu254=","HGVSp_Short":"p.L254=","Transcript_ID":"ENST00000373433","Exon_Number":"6/7","t_depth":263,"t_ref_count":169,"t_alt_count":94,"n_depth":174,"all_effects":"RPRD1B,synonymous_variant,p.L254=,ENST00000373433,NM_021215.4,c.762G>A,LOW,YES,,,1;RPRD1B,synonymous_variant,p.L36=,ENST00000614670,,c.108G>A,LOW,,,,1;RPRD1B,synonymous_variant,p.L136=,ENST00000449186,,c.408G>A,LOW,,,,1;RPRD1B,synonymous_variant,p.L3=,ENST00000622494,,c.9G>A,LOW,,,,1;RPRD1B,non_coding_transcript_exon_variant,,ENST00000618318,,n.186G>A,MODIFIER,,,,1;RPRD1B,3_prime_UTR_variant,,ENST00000462548,,c.*449G>A,MODIFIER,,,,1","Allele":"A","Gene":"ENSG00000101413","Feature":"ENST00000373433","Feature_type":"Transcript","One_Consequence":"synonymous_variant","Consequence":"synonymous_variant","cDNA_position":"964/3672","CDS_position":"762/981","Protein_position":"254/326","Amino_acids":"L","Codons":"ctG/ctA","Existing_variation":"COSV100987141","TRANSCRIPT_STRAND":1,"SYMBOL":"RPRD1B","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:16209","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS13301.1","ENSP":"ENSP00000362532","SWISSPROT":"Q9NQG5.146","UNIPARC":"UPI00001285EB","RefSeq":"NM_021215.4","MANE":"NM_021215.4","APPRIS":"P1","EXON":"6/7","DOMAINS":"PDB-ENSP_mappings:4fla.A;PDB-ENSP_mappings:4fla.B;PDB-ENSP_mappings:4fla.C;PDB-ENSP_mappings:4fla.D;PDB-ENSP_mappings:4nad.A;PDB-ENSP_mappings:4nad.B;PANTHER:PTHR12460:SF3;PANTHER:PTHR12460;Pfam:PF16566","SOMATIC":"1","IMPACT":"LOW","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","CONTEXT":"CAGCTGGCTCG","tumor_bam_uuid":"c3eb33f9-fc1e-4ae3-81bb-eac9a5d8b914","normal_bam_uuid":"5cdf52ba-a71b-480f-ad60-8420211fadd6","case_id":"595fc3ad-f603-421b-b130-52f1f617050b","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"163","Hugo_Symbol":"SND1","Entrez_Gene_Id":27044,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr7","Start_Position":127702453,"End_Position":127702453,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-50-5946-02A-11D-2107-08","Matched_Norm_Sample_Barcode":"TCGA-50-5946-10A-01D-1753-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"429c318b-20cf-4bb5-96c2-2d521094feb6","Matched_Norm_Sample_UUID":"06a41ce7-1553-4452-9f41-da6262e26409","HGVSc":"c.608G>A","HGVSp":"p.Arg203Gln","HGVSp_Short":"p.R203Q","Transcript_ID":"ENST00000354725","Exon_Number":"6/24","t_depth":246,"t_ref_count":194,"t_alt_count":52,"n_depth":97,"all_effects":"SND1,missense_variant,p.R203Q,ENST00000354725,NM_014390.4,c.608G>A,MODERATE,YES,deleterious(0),probably_damaging(0.988),1;SND1,non_coding_transcript_exon_variant,,ENST00000483503,,n.503G>A,MODIFIER,,,,1;SND1,non_coding_transcript_exon_variant,,ENST00000492772,,n.415G>A,MODIFIER,,,,1;SND1,downstream_gene_variant,,ENST00000461056,,,MODIFIER,,,,1;SND1,downstream_gene_variant,,ENST00000468621,,,MODIFIER,,,,1","Allele":"A","Gene":"ENSG00000197157","Feature":"ENST00000354725","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"788/3448","CDS_position":"608/2733","Protein_position":"203/910","Amino_acids":"R/Q","Codons":"cGg/cAg","Existing_variation":"COSV61247962","TRANSCRIPT_STRAND":1,"SYMBOL":"SND1","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:30646","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS34747.1","ENSP":"ENSP00000346762","SWISSPROT":"Q7KZF4.170","TREMBL":"A0A140VK49.30","UNIPARC":"UPI00000727E5","RefSeq":"NM_014390.4","MANE":"NM_014390.4","APPRIS":"P1","SIFT":"deleterious(0)","PolyPhen":"probably_damaging(0.988)","EXON":"6/24","DOMAINS":"PDB-ENSP_mappings:4qmg.A;PDB-ENSP_mappings:4qmg.B;PDB-ENSP_mappings:4qmg.C;PDB-ENSP_mappings:4qmg.D;PDB-ENSP_mappings:4qmg.E;Superfamily:SSF50199;SMART:SM00318;Gene3D:2.40.50.90;PIRSF:PIRSF017179;PANTHER:PTHR12302:SF13;PANTHER:PTHR12302;CDD:cd00175;PROSITE_profiles:PS50830","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","GENE_PHENO":"1","CONTEXT":"TGTGCGGGACG","tumor_bam_uuid":"8afa9bbf-25cb-4eb2-b19a-7d67b7b05baf","normal_bam_uuid":"caceb655-d370-4184-8b15-5271ce0aad44","case_id":"c95957a7-1a1a-4c8d-bb61-7c99b500f224","COSMIC":"COSM6176282","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"321","Hugo_Symbol":"WASF4P","Entrez_Gene_Id":644739,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chrX","Start_Position":47803988,"End_Position":47803988,"Strand":"+","Variant_Classification":"RNA","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"A","dbSNP_RS":"novel","Tumor_Sample_Barcode":"TCGA-05-4430-01A-02D-1265-08","Matched_Norm_Sample_Barcode":"TCGA-05-4430-10A-01D-1265-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"23398531-3f4c-45e6-980b-755165c04974","Matched_Norm_Sample_UUID":"00df5c73-c2a7-47b4-8007-e7042ce81305","HGVSc":"n.693G>A","Transcript_ID":"ENST00000444248","Exon_Number":"1/1","t_depth":123,"t_ref_count":112,"t_alt_count":10,"n_depth":112,"all_effects":"WASF4P,non_coding_transcript_exon_variant,,ENST00000444248,,n.693G>A,MODIFIER,YES,,,1","Allele":"A","Gene":"ENSG00000188459","Feature":"ENST00000444248","Feature_type":"Transcript","One_Consequence":"non_coding_transcript_exon_variant","Consequence":"non_coding_transcript_exon_variant","cDNA_position":"693/1494","TRANSCRIPT_STRAND":1,"SYMBOL":"WASF4P","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:20801","BIOTYPE":"processed_pseudogene","CANONICAL":"YES","EXON":"1/1","IMPACT":"MODIFIER","PICK":1,"VARIANT_CLASS":"SNV","CONTEXT":"TACCAGAATGG","tumor_bam_uuid":"b76028be-c9e4-4f6b-8288-1ba277328776","normal_bam_uuid":"d0d66ece-88b2-4429-a8d3-65816a5bed06","case_id":"3a23cdb5-2327-45ac-b0b5-d4afe038c757","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2"}
{"X1":"238","Hugo_Symbol":"WLS","Entrez_Gene_Id":79971,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr1","Start_Position":68194032,"End_Position":68194032,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"A","Tumor_Seq_Allele1":"A","Tumor_Seq_Allele2":"G","dbSNP_RS":"rs763521771","Tumor_Sample_Barcode":"TCGA-78-8640-01A-11D-2393-08","Matched_Norm_Sample_Barcode":"TCGA-78-8640-11A-01D-2393-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"c50986c8-b096-4ca6-9afe-ad02977329cb","Matched_Norm_Sample_UUID":"dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11","HGVSc":"c.302T>C","HGVSp":"p.Met101Thr","HGVSp_Short":"p.M101T","Transcript_ID":"ENST00000262348","Exon_Number":"2/12","t_depth":86,"t_ref_count":75,"t_alt_count":11,"n_depth":110,"all_effects":"WLS,missense_variant,p.M101T,ENST00000262348,NM_024911.7,c.302T>C,MODERATE,,tolerated(0.41),benign(0),-1;WLS,missense_variant,p.M99T,ENST00000354777,NM_001002292.3,c.296T>C,MODERATE,YES,tolerated(0.25),benign(0.001),-1;WLS,missense_variant,p.M56T,ENST00000530486,,c.167T>C,MODERATE,,tolerated(0.42),benign(0),-1;WLS,missense_variant,p.M101T,ENST00000370971,,c.302T>C,MODERATE,,tolerated(0.39),benign(0.003),-1;WLS,missense_variant,p.M56T,ENST00000471243,,c.167T>C,MODERATE,,tolerated(0.43),benign(0),-1;WLS,intron_variant,,ENST00000370973,,c.-54-44T>C,MODIFIER,,,,-1;WLS,intron_variant,,ENST00000370976,NM_001193334.1,c.107-34785T>C,MODIFIER,,,,-1;WLS,intron_variant,,ENST00000533537,,c.-20-34785T>C,MODIFIER,,,,-1;WLS,intron_variant,,ENST00000534713,,c.88-34785T>C,MODIFIER,,,,-1;WLS,missense_variant,p.M107T,ENST00000527864,,c.320T>C,MODERATE,,tolerated(0.3),benign(0.352),-1;WLS,3_prime_UTR_variant,,ENST00000491076,,c.*220T>C,MODIFIER,,,,-1;GNG12-AS1,intron_variant,,ENST00000413628,,n.1040-7937A>G,MODIFIER,,,,1;GNG12-AS1,intron_variant,,ENST00000420587,,n.1214-7937A>G,MODIFIER,YES,,,1","Allele":"G","Gene":"ENSG00000116729","Feature":"ENST00000262348","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"526/2716","CDS_position":"302/1626","Protein_position":"101/541","Amino_acids":"M/T","Codons":"aTg/aCg","Existing_variation":"rs763521771;COSV99259053","TRANSCRIPT_STRAND":-1,"SYMBOL":"WLS","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:30238","BIOTYPE":"protein_coding","CCDS":"CCDS642.1","ENSP":"ENSP00000262348","SWISSPROT":"Q5T9L3.131","UNIPARC":"UPI0000049FDB","UNIPROT_ISOFORM":"Q5T9L3-1","RefSeq":"NM_024911.7","MANE":"NM_024911.7","APPRIS":"P1","SIFT":"tolerated(0.41)","PolyPhen":"benign(0)","EXON":"2/12","DOMAINS":"PANTHER:PTHR13449","gnomAD_AF":"5.567e-05","gnomAD_AFR_AF":"0","gnomAD_AMR_AF":"0.0004048","gnomAD_ASJ_AF":"0","gnomAD_EAS_AF":"0","gnomAD_FIN_AF":"0","gnomAD_NFE_AF":"0","gnomAD_OTH_AF":"0","gnomAD_SAS_AF":"0","MAX_AF":"0.0004048","MAX_AF_POPS":"gnomAD_AMR","SOMATIC":"0;1","IMPACT":"MODERATE","VARIANT_CLASS":"SNV","TSL":1,"PHENO":"0;1","CONTEXT":"TCTCCATGTGG","tumor_bam_uuid":"a4437afd-b85a-4e7c-8a73-e91011ebf31c","normal_bam_uuid":"f0290fd0-31e2-49b3-8cec-7eb7b425f0c7","case_id":"18478121-f1d1-4bdd-9511-8ab22f4a0660","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"475","Hugo_Symbol":"NRG3","Entrez_Gene_Id":10718,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr10","Start_Position":82985292,"End_Position":82985292,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-05-4427-01A-21D-1855-08","Matched_Norm_Sample_Barcode":"TCGA-05-4427-10A-01D-1855-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"736e0134-8b1a-4ff1-9106-ca09c9812ef6","Matched_Norm_Sample_UUID":"486af110-e61e-4e67-b5fa-f0eef31227cb","HGVSc":"c.1850C>A","HGVSp":"p.Ser617Tyr","HGVSp_Short":"p.S617Y","Transcript_ID":"ENST00000404547","Exon_Number":"10/10","t_depth":133,"t_ref_count":91,"t_alt_count":42,"n_depth":136,"all_effects":"NRG3,missense_variant,p.S593Y,ENST00000372141,NM_001010848.4&NM_001370081.1&NM_001165972.1,c.1778C>A,MODERATE,,deleterious(0),probably_damaging(0.952),1;NRG3,missense_variant,p.S396Y,ENST00000372142,NM_001165973.1,c.1187C>A,MODERATE,,deleterious(0),probably_damaging(0.939),1;NRG3,missense_variant,p.S243Y,ENST00000545131,,c.728C>A,MODERATE,,deleterious(0),probably_damaging(0.952),1;NRG3,missense_variant,p.S617Y,ENST00000404547,NM_001370084.1,c.1850C>A,MODERATE,YES,deleterious_low_confidence(0),probably_damaging(0.952),1;NRG3,missense_variant,p.S423Y,ENST00000556918,NM_001370082.1,c.1268C>A,MODERATE,,deleterious_low_confidence(0),probably_damaging(0.93),1;NRG3,missense_variant,p.S397Y,ENST00000404576,,c.1190C>A,MODERATE,,deleterious_low_confidence(0),probably_damaging(0.913),1;NRG3,missense_variant,p.S243Y,ENST00000537893,,c.728C>A,MODERATE,,deleterious(0),probably_damaging(0.952),1;NRG3,3_prime_UTR_variant,,ENST00000602794,,c.*1414C>A,MODIFIER,,,,1;NRG3,3_prime_UTR_variant,,ENST00000555784,,c.*1062C>A,MODIFIER,,,,1","Allele":"A","Gene":"ENSG00000185737","Feature":"ENST00000404547","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"1850/2163","CDS_position":"1850/2163","Protein_position":"617/720","Amino_acids":"S/Y","Codons":"tCt/tAt","Existing_variation":"COSV64547547;COSV64569139","TRANSCRIPT_STRAND":1,"SYMBOL":"NRG3","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:7999","BIOTYPE":"protein_coding","CANONICAL":"YES","ENSP":"ENSP00000384796","SWISSPROT":"P56975.167","TREMBL":"D9ZHP6.61","UNIPARC":"UPI000013050A","UNIPROT_ISOFORM":"P56975-1","RefSeq":"NM_001370084.1","APPRIS":"A2","SIFT":"deleterious_low_confidence(0)","PolyPhen":"probably_damaging(0.952)","EXON":"10/10","DOMAINS":"PANTHER:PTHR11100;PANTHER:PTHR11100:SF18","SOMATIC":"1;1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1;1","CONTEXT":"GATTTCTGAAG","tumor_bam_uuid":"db10f9f9-4375-4197-a905-692f64066021","normal_bam_uuid":"b3aca9b1-aee3-4a6c-b1b5-3216a736f741","case_id":"78a24c56-576c-4245-bb42-6603b3d19897","COSMIC":"COSM6066803;COSM6066804","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"283","Hugo_Symbol":"TRPM1","Entrez_Gene_Id":4308,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr15","Start_Position":31026154,"End_Position":31026154,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-86-8585-01A-11D-2393-08","Matched_Norm_Sample_Barcode":"TCGA-86-8585-10A-01D-2393-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"e562aaa2-c8fe-4f32-ad9a-f847349e43ef","Matched_Norm_Sample_UUID":"b6b5a91b-c65b-402e-94a8-d703933b9f08","HGVSc":"c.3548G>T","HGVSp":"p.Arg1183Leu","HGVSp_Short":"p.R1183L","Transcript_ID":"ENST00000397795","Exon_Number":"26/27","t_depth":67,"t_ref_count":51,"t_alt_count":16,"n_depth":67,"all_effects":"TRPM1,missense_variant,p.R1222L,ENST00000542188,NM_001252020.1,c.3665G>T,MODERATE,YES,deleterious(0.01),possibly_damaging(0.873),-1;TRPM1,missense_variant,p.R1205L,ENST00000256552,NM_001252024.2,c.3614G>T,MODERATE,,deleterious(0.01),benign(0.438),-1;TRPM1,missense_variant,p.R1183L,ENST00000397795,NM_002420.6,c.3548G>T,MODERATE,,deleterious(0.01),benign(0.244),-1;TRPM1,missense_variant,p.R1106L,ENST00000558768,,c.3317G>T,MODERATE,,deleterious(0.02),benign(0.438),-1;TRPM1,missense_variant,p.R1183L,ENST00000558445,,c.3548G>T,MODERATE,,deleterious(0.01),benign(0.244),-1;TRPM1,missense_variant,p.R298L,ENST00000559177,,c.893G>T,MODERATE,,deleterious(0.02),probably_damaging(0.988),-1;TRPM1,3_prime_UTR_variant,,ENST00000560801,,c.*2500G>T,MODIFIER,,,,-1;TRPM1,downstream_gene_variant,,ENST00000557948,,,MODIFIER,,,,-1;TRPM1,downstream_gene_variant,,ENST00000558212,,,MODIFIER,,,,-1;AC009562.1,intron_variant,,ENST00000561299,,n.19-9599C>A,MODIFIER,,,,1;AC009562.1,intron_variant,,ENST00000665655,,n.72-811C>A,MODIFIER,YES,,,1;AC009562.1,upstream_gene_variant,,ENST00000558755,,,MODIFIER,,,,1","Allele":"A","Gene":"ENSG00000134160","Feature":"ENST00000397795","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"3662/5687","CDS_position":"3548/4812","Protein_position":"1183/1603","Amino_acids":"R/L","Codons":"cGg/cTg","Existing_variation":"COSV56642390","TRANSCRIPT_STRAND":-1,"SYMBOL":"TRPM1","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:7146","BIOTYPE":"protein_coding","CCDS":"CCDS10024.2","ENSP":"ENSP00000380897","SWISSPROT":"Q7Z4N2.136","UNIPARC":"UPI00001FE144","UNIPROT_ISOFORM":"Q7Z4N2-1","RefSeq":"NM_002420.6","APPRIS":"A2","SIFT":"deleterious(0.01)","PolyPhen":"benign(0.244)","EXON":"26/27","DOMAINS":"Gene3D:1.20.5.1010;Coiled-coils_(Ncoils):Coil;Pfam:PF16519;PANTHER:PTHR13800;PANTHER:PTHR13800:SF13","SOMATIC":"1","IMPACT":"MODERATE","VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","GENE_PHENO":"1","CONTEXT":"TGACCCGGATG","tumor_bam_uuid":"ec333f08-1584-421f-b14f-b289fbdef091","normal_bam_uuid":"7c11c9e3-0e6d-4224-88f7-65bc8d9438af","case_id":"2f1a4b16-104c-40eb-8114-8245847bb716","COSMIC":"COSM3794068","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"109","Hugo_Symbol":"LEMD3","Entrez_Gene_Id":23592,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr12","Start_Position":65245700,"End_Position":65245700,"Strand":"+","Variant_Classification":"Nonsense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"T","Tumor_Sample_Barcode":"TCGA-49-6743-01A-11D-1855-08","Matched_Norm_Sample_Barcode":"TCGA-49-6743-11A-01D-1855-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"545c9d29-a8e0-4d2d-8552-d27b46f96070","Matched_Norm_Sample_UUID":"d46dc31a-233c-4dcf-9c64-5ae5a4341be7","HGVSc":"c.2419C>T","HGVSp":"p.Gln807Ter","HGVSp_Short":"p.Q807*","Transcript_ID":"ENST00000308330","Exon_Number":"11/13","t_depth":86,"t_ref_count":64,"t_alt_count":22,"n_depth":63,"all_effects":"LEMD3,stop_gained,p.Q807*,ENST00000308330,NM_014319.5&NM_001167614.2,c.2419C>T,HIGH,YES,,,1;LEMD3,non_coding_transcript_exon_variant,,ENST00000539442,,n.401C>T,MODIFIER,,,,1;LEMD3,non_coding_transcript_exon_variant,,ENST00000542032,,n.636C>T,MODIFIER,,,,1;LEMD3,non_coding_transcript_exon_variant,,ENST00000545026,,n.151C>T,MODIFIER,,,,1;LEMD3,non_coding_transcript_exon_variant,,ENST00000544506,,n.53C>T,MODIFIER,,,,1","Allele":"T","Gene":"ENSG00000174106","Feature":"ENST00000308330","Feature_type":"Transcript","One_Consequence":"stop_gained","Consequence":"stop_gained","cDNA_position":"2433/4780","CDS_position":"2419/2736","Protein_position":"807/911","Amino_acids":"Q/*","Codons":"Caa/Taa","Existing_variation":"COSV57648090","TRANSCRIPT_STRAND":1,"SYMBOL":"LEMD3","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:28887","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS8972.1","ENSP":"ENSP00000308369","SWISSPROT":"Q9Y2U8.183","TREMBL":"A0A024RBB9.47","UNIPARC":"UPI000012EB75","RefSeq":"NM_014319.5;NM_001167614.2","MANE":"NM_014319.5","APPRIS":"P1","EXON":"11/13","DOMAINS":"PDB-ENSP_mappings:5zoj.D;PDB-ENSP_mappings:5zoj.E;PDB-ENSP_mappings:5zok.B;PDB-ENSP_mappings:5zok.D;CDD:cd12286;PANTHER:PTHR13428:SF10;PANTHER:PTHR13428;Gene3D:3.30.70.330;Superfamily:SSF54928","SOMATIC":"1","IMPACT":"HIGH","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","GENE_PHENO":"1","CONTEXT":"CAATTCAAGAA","tumor_bam_uuid":"c3dd731b-8e7f-4545-be11-5ea2b32d0098","normal_bam_uuid":"a06a28ba-16d5-4537-be93-91961becbe07","case_id":"a391d49f-a822-460b-981c-6fbe1868ee38","COSMIC":"COSM6073426","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"126","Hugo_Symbol":"IMPG2","Entrez_Gene_Id":50939,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr3","Start_Position":101304220,"End_Position":101304220,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"T","Tumor_Sample_Barcode":"TCGA-69-7980-01A-11D-2184-08","Matched_Norm_Sample_Barcode":"TCGA-69-7980-10A-01D-2184-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"125eda94-46ba-467b-93a5-909b1084136d","Matched_Norm_Sample_UUID":"ff44cf5d-e9bb-4f79-82b0-056824e2d6b5","HGVSc":"c.427G>A","HGVSp":"p.Asp143Asn","HGVSp_Short":"p.D143N","Transcript_ID":"ENST00000193391","Exon_Number":"3/19","t_depth":135,"t_ref_count":45,"t_alt_count":90,"n_depth":126,"all_effects":"IMPG2,missense_variant,p.D143N,ENST00000193391,NM_016247.4,c.427G>A,MODERATE,YES,tolerated(0.25),benign(0.003),-1","Allele":"T","Gene":"ENSG00000081148","Feature":"ENST00000193391","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"630/8352","CDS_position":"427/3726","Protein_position":"143/1241","Amino_acids":"D/N","Codons":"Gat/Aat","Existing_variation":"COSV51983467","TRANSCRIPT_STRAND":-1,"SYMBOL":"IMPG2","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:18362","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS2940.1","ENSP":"ENSP00000193391","SWISSPROT":"Q9BZV3.125","TREMBL":"F1T0J3.65","UNIPARC":"UPI000013C605","RefSeq":"NM_016247.4","MANE":"NM_016247.4","APPRIS":"P1","SIFT":"tolerated(0.25)","PolyPhen":"benign(0.003)","EXON":"3/19","DOMAINS":"PANTHER:PTHR12199:SF4;PANTHER:PTHR12199","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","GENE_PHENO":"1","CONTEXT":"TCCATCCTCAC","tumor_bam_uuid":"84685ecc-531d-4c12-9193-5442b8e30b14","normal_bam_uuid":"7497093e-bfce-4aea-a545-12309b3f519c","case_id":"aee86a89-0377-4080-b16c-408bfbe78687","COSMIC":"COSM6162396","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"426","Hugo_Symbol":"SLC10A2","Entrez_Gene_Id":6555,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr13","Start_Position":103046135,"End_Position":103046135,"Strand":"+","Variant_Classification":"Nonstop_Mutation","Variant_Type":"SNP","Reference_Allele":"A","Tumor_Seq_Allele1":"A","Tumor_Seq_Allele2":"C","Tumor_Sample_Barcode":"TCGA-05-4424-01A-22D-1855-08","Matched_Norm_Sample_Barcode":"TCGA-05-4424-10A-01D-1855-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"fc500ff5-24c8-4965-94da-b4afafafe2dd","Matched_Norm_Sample_UUID":"e785fabf-7b0f-49cd-a423-0c6372147f9b","HGVSc":"c.1045T>G","HGVSp":"p.Ter349GluextTer17","HGVSp_Short":"p.*349Eext*17","Transcript_ID":"ENST00000245312","Exon_Number":"6/6","t_depth":80,"t_ref_count":67,"t_alt_count":13,"n_depth":90,"all_effects":"SLC10A2,stop_lost,p.*349Eext*17,ENST00000245312,NM_000452.3,c.1045T>G,HIGH,YES,,,-1","Allele":"C","Gene":"ENSG00000125255","Feature":"ENST00000245312","Feature_type":"Transcript","One_Consequence":"stop_lost","Consequence":"stop_lost","cDNA_position":"1213/3350","CDS_position":"1045/1047","Protein_position":"349/348","Amino_acids":"*/E","Codons":"Tag/Gag","Existing_variation":"COSV55360401","TRANSCRIPT_STRAND":-1,"SYMBOL":"SLC10A2","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:10906","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS9506.1","ENSP":"ENSP00000245312","SWISSPROT":"Q12908.172","UNIPARC":"UPI000013CB9B","RefSeq":"NM_000452.3","MANE":"NM_000452.3","APPRIS":"P1","EXON":"6/6","SOMATIC":"1","IMPACT":"HIGH","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","GENE_PHENO":"1","CONTEXT":"TGTCTACTTTT","tumor_bam_uuid":"64919ef7-1106-41b9-9941-4928231ab2eb","normal_bam_uuid":"671061d8-9a23-4559-8859-51408c3f4939","case_id":"66763a0c-6cda-4832-a0cc-e7b496d78eaa","COSMIC":"COSM6074076","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"564","Hugo_Symbol":"VCAN","Entrez_Gene_Id":1462,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr5","Start_Position":83541064,"End_Position":83541065,"Strand":"+","Variant_Classification":"Frame_Shift_Ins","Variant_Type":"INS","Reference_Allele":"-","Tumor_Seq_Allele1":"-","Tumor_Seq_Allele2":"C","dbSNP_RS":"novel","Tumor_Sample_Barcode":"TCGA-55-6985-01A-11D-1945-08","Matched_Norm_Sample_Barcode":"TCGA-55-6985-11A-01D-1945-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"66ba22b1-aab9-4c8d-be49-5b417cb53094","Matched_Norm_Sample_UUID":"af54c77e-4dbd-4955-b021-db04c738c39d","HGVSc":"c.8064dup","HGVSp":"p.Thr2689HisfsTer10","HGVSp_Short":"p.T2689Hfs*10","Transcript_ID":"ENST00000265077","Exon_Number":"8/15","t_depth":55,"t_ref_count":48,"t_alt_count":7,"n_depth":57,"all_effects":"VCAN,frameshift_variant,p.T2689Hfs*10,ENST00000265077,NM_004385.5,c.8064dup,HIGH,YES,,,1;VCAN,frameshift_variant,p.T1702Hfs*10,ENST00000343200,NM_001164097.1,c.5103dup,HIGH,,,,1;VCAN,intron_variant,,ENST00000342785,NM_001164098.1,c.4004-4470dup,MODIFIER,,,,1;VCAN,intron_variant,,ENST00000502527,NM_001126336.3,c.1043-4470dup,MODIFIER,,,,1;VCAN,intron_variant,,ENST00000512590,,c.3860-4470dup,MODIFIER,,,,1;VCAN,downstream_gene_variant,,ENST00000513960,,,MODIFIER,,,,1;VCAN,non_coding_transcript_exon_variant,,ENST00000513016,,n.5454dup,MODIFIER,,,,1;VCAN,upstream_gene_variant,,ENST00000507162,,,MODIFIER,,,,1;VCAN,downstream_gene_variant,,ENST00000515397,,,MODIFIER,,,,1;VCAN-AS1,intron_variant,,ENST00000512090,,n.285-6892dup,MODIFIER,,,,-1;VCAN-AS1,downstream_gene_variant,,ENST00000513899,,,MODIFIER,YES,,,-1","Allele":"C","Gene":"ENSG00000038427","Feature":"ENST00000265077","Feature_type":"Transcript","One_Consequence":"frameshift_variant","Consequence":"frameshift_variant","cDNA_position":"8347-8348/12345","CDS_position":"8061-8062/10191","Protein_position":"2687-2688/3396","Amino_acids":"-/X","Codons":"-/C","TRANSCRIPT_STRAND":1,"SYMBOL":"VCAN","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:2464","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS4060.1","ENSP":"ENSP00000265077","SWISSPROT":"P13611.231","TREMBL":"A0A024RAQ9.55","UNIPARC":"UPI000013178B","UNIPROT_ISOFORM":"P13611-1","RefSeq":"NM_004385.5","MANE":"NM_004385.5","APPRIS":"A2","EXON":"8/15","DOMAINS":"PANTHER:PTHR22804;PANTHER:PTHR22804:SF6","IMPACT":"HIGH","PICK":1,"VARIANT_CLASS":"insertion","TSL":1,"HGVS_OFFSET":3,"GENE_PHENO":"1","CONTEXT":"TTACTTCCCAC","tumor_bam_uuid":"d428b69d-7ab4-461d-bf70-bc8e25b0d165","normal_bam_uuid":"873181c0-5c4f-4dc4-87c4-dff1324c6320","case_id":"e5cb0c86-8fe2-4cfc-b32b-e8ec3839ffc4","hotspot":"N","RNA_Support":"Unknown","callers":"mutect2;pindel;varscan2"}
{"X1":"179","Hugo_Symbol":"OR2D3","Entrez_Gene_Id":120775,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr11","Start_Position":6921327,"End_Position":6921327,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-86-8073-01A-11D-2238-08","Matched_Norm_Sample_Barcode":"TCGA-86-8073-10A-01D-2238-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"b7268ee3-2840-467c-9e11-8e269ccc60a8","Matched_Norm_Sample_UUID":"653e6401-123b-4136-b07b-26c50359235e","HGVSc":"c.326C>A","HGVSp":"p.Ser109Tyr","HGVSp_Short":"p.S109Y","Transcript_ID":"ENST00000317834","Exon_Number":"1/1","t_depth":137,"t_ref_count":118,"t_alt_count":18,"n_depth":138,"all_effects":"OR2D3,missense_variant,p.S109Y,ENST00000317834,NM_001004684.1,c.326C>A,MODERATE,YES,deleterious(0),probably_damaging(0.987),1;AC087280.2,intron_variant,,ENST00000637205,,n.605+3171G>T,MODIFIER,YES,,,-1","Allele":"A","Gene":"ENSG00000178358","Feature":"ENST00000317834","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"354/1070","CDS_position":"326/993","Protein_position":"109/330","Amino_acids":"S/Y","Codons":"tCt/tAt","Existing_variation":"COSV100505019","TRANSCRIPT_STRAND":1,"SYMBOL":"OR2D3","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:15146","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS31417.1","ENSP":"ENSP00000320560","SWISSPROT":"Q8NGH3.141","UNIPARC":"UPI0000041C7D","RefSeq":"NM_001004684.1","APPRIS":"P1","SIFT":"deleterious(0)","PolyPhen":"probably_damaging(0.987)","EXON":"1/1","DOMAINS":"Gene3D:1.20.1070.10;Pfam:PF13853;Prints:PR00245;PROSITE_profiles:PS50262;PANTHER:PTHR26453;PANTHER:PTHR26453:SF136;Superfamily:SSF81321;CDD:cd15428","SOMATIC":"1","IMPACT":"MODERATE","VARIANT_CLASS":"SNV","PHENO":"1","CONTEXT":"CATTTCTTTTT","tumor_bam_uuid":"f9aa0e56-bd51-42c1-8e42-ca452b9748ff","normal_bam_uuid":"035edb39-aa44-4b26-b409-3558f2903753","case_id":"cd902d08-215e-4bd0-88e4-4fd01ab43cbf","hotspot":"N","RNA_Support":"Unknown","callers":"muse;varscan2"}
{"X1":"320","Hugo_Symbol":"NCKAP5","Entrez_Gene_Id":344148,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr2","Start_Position":132782783,"End_Position":132782783,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"T","Tumor_Sample_Barcode":"TCGA-55-A492-01A-11D-A24D-08","Matched_Norm_Sample_Barcode":"TCGA-55-A492-10A-01D-A24F-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"cd66e6a5-e432-426e-a3b6-3173d8534981","Matched_Norm_Sample_UUID":"3b60f3bd-4e01-4872-8a46-d6e1aec7be28","HGVSc":"c.4028G>A","HGVSp":"p.Gly1343Glu","HGVSp_Short":"p.G1343E","Transcript_ID":"ENST00000409261","Exon_Number":"14/20","t_depth":30,"t_ref_count":20,"t_alt_count":10,"n_depth":43,"all_effects":"NCKAP5,missense_variant,p.G1343E,ENST00000409261,NM_207363.3,c.4028G>A,MODERATE,YES,tolerated(0.91),benign(0.011),-1;NCKAP5,missense_variant,p.G1343E,ENST00000317721,,c.4028G>A,MODERATE,,tolerated(0.91),benign(0.106),-1;NCKAP5,intron_variant,,ENST00000405974,,c.1092+7240G>A,MODIFIER,,,,-1;NCKAP5,intron_variant,,ENST00000409213,NM_207481.4,c.1092+7240G>A,MODIFIER,,,,-1;NCKAP5,upstream_gene_variant,,ENST00000473859,,,MODIFIER,,,,-1;AC010974.2,intron_variant,,ENST00000651100,,n.458-31818C>T,MODIFIER,YES,,,1","Allele":"T","Gene":"ENSG00000176771","Feature":"ENST00000409261","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"4405/7608","CDS_position":"4028/5730","Protein_position":"1343/1909","Amino_acids":"G/E","Codons":"gGg/gAg","Existing_variation":"COSV100493260","TRANSCRIPT_STRAND":-1,"SYMBOL":"NCKAP5","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:29847","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS46418.1","ENSP":"ENSP00000387128","SWISSPROT":"O14513.127","UNIPARC":"UPI0000E07A3F","UNIPROT_ISOFORM":"O14513-1","RefSeq":"NM_207363.3","MANE":"NM_207363.3","APPRIS":"P4","SIFT":"tolerated(0.91)","PolyPhen":"benign(0.011)","EXON":"14/20","DOMAINS":"PANTHER:PTHR21740;PANTHER:PTHR21740:SF0;Low_complexity_(Seg):seg;MobiDB_lite:mobidb-lite","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":5,"PHENO":"1","CONTEXT":"GGTGCCCCGAG","tumor_bam_uuid":"3defa510-5e61-4168-b66f-9f57c5fb7533","normal_bam_uuid":"a36f6cd7-8424-413c-bdfe-d17e0dd7572a","case_id":"39ab7174-5707-498d-9959-523680e04198","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"474","Hugo_Symbol":"KIF2B","Entrez_Gene_Id":84643,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr17","Start_Position":53823299,"End_Position":53823299,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"G","Tumor_Sample_Barcode":"TCGA-78-8660-01A-11D-2393-08","Matched_Norm_Sample_Barcode":"TCGA-78-8660-10A-01D-2393-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"68507d4d-9ccc-4aeb-a63a-14347148938c","Matched_Norm_Sample_UUID":"0df31b8b-881c-40ad-977c-f4711e8a2ad9","HGVSc":"c.266C>G","HGVSp":"p.Pro89Arg","HGVSp_Short":"p.P89R","Transcript_ID":"ENST00000268919","Exon_Number":"1/1","t_depth":321,"t_ref_count":254,"t_alt_count":66,"n_depth":306,"all_effects":"KIF2B,missense_variant,p.P89R,ENST00000268919,NM_032559.5,c.266C>G,MODERATE,YES,tolerated(0.06),benign(0.065),1;AC034268.2,intron_variant,,ENST00000650577,,n.659+16533G>C,MODIFIER,YES,,,-1","Allele":"G","Gene":"ENSG00000141200","Feature":"ENST00000268919","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"373/2267","CDS_position":"266/2022","Protein_position":"89/673","Amino_acids":"P/R","Codons":"cCc/cGc","Existing_variation":"COSV52129299;COSV99274948","TRANSCRIPT_STRAND":1,"SYMBOL":"KIF2B","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:29443","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS32685.1","ENSP":"ENSP00000268919","SWISSPROT":"Q8N4N8.153","TREMBL":"A0A140VKG5.31","UNIPARC":"UPI000013D7E6","RefSeq":"NM_032559.5","MANE":"NM_032559.5","APPRIS":"P1","SIFT":"tolerated(0.06)","PolyPhen":"benign(0.065)","EXON":"1/1","SOMATIC":"1;1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","PHENO":"1;1","CONTEXT":"ACACCCCATGC","tumor_bam_uuid":"60cacd1d-e57c-4861-b559-bdce6928a40f","normal_bam_uuid":"72e6b358-577a-4b97-920a-b1e044cb4916","case_id":"781f40c9-c099-4c96-8269-ebe2a449c93d","hotspot":"N","RNA_Support":"Unknown","callers":"muse;varscan2"}
{"X1":"505","Hugo_Symbol":"PRG4","Entrez_Gene_Id":10216,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr1","Start_Position":186307095,"End_Position":186307095,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-55-8207-01A-11D-2238-08","Matched_Norm_Sample_Barcode":"TCGA-55-8207-10A-01D-2238-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"5946020c-0d48-4e58-8208-70311a6e3cdf","Matched_Norm_Sample_UUID":"e8cf99cf-0300-498f-aa61-1573bb895846","HGVSc":"c.1376C>A","HGVSp":"p.Pro459His","HGVSp_Short":"p.P459H","Transcript_ID":"ENST00000445192","Exon_Number":"7/13","t_depth":148,"t_ref_count":127,"t_alt_count":20,"n_depth":93,"all_effects":"PRG4,missense_variant,p.P459H,ENST00000445192,NM_005807.6,c.1376C>A,MODERATE,YES,deleterious(0),benign(0.052),1;PRG4,missense_variant,p.P418H,ENST00000367483,NM_001127708.3,c.1253C>A,MODERATE,,deleterious(0),benign(0.052),1;PRG4,missense_variant,p.P416H,ENST00000635041,NM_001303232.2,c.1247C>A,MODERATE,,deleterious(0),benign(0.052),1;PRG4,missense_variant,p.P366H,ENST00000367485,NM_001127709.3&NM_001127710.3,c.1097C>A,MODERATE,,deleterious(0),benign(0.052),1;PRG4,missense_variant,p.P325H,ENST00000367482,,c.974C>A,MODERATE,,deleterious(0),benign(0.052),1;TPR,downstream_gene_variant,,ENST00000367478,NM_003292.3,,MODIFIER,YES,,,-1;PRG4,downstream_gene_variant,,ENST00000533951,,,MODIFIER,,,,1;RNU6-1240P,downstream_gene_variant,,ENST00000365155,,,MODIFIER,YES,,,-1","Allele":"A","Gene":"ENSG00000116690","Feature":"ENST00000445192","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"1421/5049","CDS_position":"1376/4215","Protein_position":"459/1404","Amino_acids":"P/H","Codons":"cCt/cAt","Existing_variation":"COSV100798163","TRANSCRIPT_STRAND":1,"SYMBOL":"PRG4","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:9364","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS1369.1","ENSP":"ENSP00000399679","SWISSPROT":"Q92954.175","UNIPARC":"UPI0004620CBB","UNIPROT_ISOFORM":"Q92954-1","RefSeq":"NM_005807.6","MANE":"NM_005807.6","APPRIS":"P4","SIFT":"deleterious(0)","PolyPhen":"benign(0.052)","EXON":"7/13","DOMAINS":"PANTHER:PTHR22917;PANTHER:PTHR22917:SF1;MobiDB_lite:mobidb-lite;MobiDB_lite:mobidb-lite;Low_complexity_(Seg):seg","SOMATIC":"1","IMPACT":"MODERATE","VARIANT_CLASS":"SNV","TSL":5,"PHENO":"1","GENE_PHENO":"1","CONTEXT":"GGAGCCTACAC","tumor_bam_uuid":"c2b98a18-9d4d-4e19-b93c-ceee968b7872","normal_bam_uuid":"2a72302b-5f58-4286-bfc1-74c9f6b69f5b","case_id":"b256e065-c681-4f82-8b68-a8ef7c413791","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"305","Hugo_Symbol":"OR7G1","Entrez_Gene_Id":125962,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr19","Start_Position":9115515,"End_Position":9115515,"Strand":"+","Variant_Classification":"Silent","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"T","Tumor_Sample_Barcode":"TCGA-55-6982-01A-11D-1945-08","Matched_Norm_Sample_Barcode":"TCGA-55-6982-11A-01D-1945-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"b7f11036-7ac4-41bc-a9a4-64162725fdfc","Matched_Norm_Sample_UUID":"48a02a49-e77f-4a18-a2a2-3e28f13b25da","HGVSc":"c.249G>A","HGVSp":"p.Val83=","HGVSp_Short":"p.V83=","Transcript_ID":"ENST00000541538","Exon_Number":"1/1","t_depth":194,"t_ref_count":174,"t_alt_count":19,"n_depth":272,"all_effects":"OR7G1,synonymous_variant,p.V83=,ENST00000541538,NM_001005192.2,c.249G>A,LOW,YES,,,-1","Allele":"T","Gene":"ENSG00000161807","Feature":"ENST00000541538","Feature_type":"Transcript","One_Consequence":"synonymous_variant","Consequence":"synonymous_variant","cDNA_position":"249/936","CDS_position":"249/936","Protein_position":"83/311","Amino_acids":"V","Codons":"gtG/gtA","Existing_variation":"COSV53316968","TRANSCRIPT_STRAND":-1,"SYMBOL":"OR7G1","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:8465","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS32898.2","ENSP":"ENSP00000444134","SWISSPROT":"Q8NGA0.143","TREMBL":"A0A126GVS6.29","UNIPARC":"UPI0000041C27","RefSeq":"NM_001005192.2","MANE":"NM_001005192.2","APPRIS":"P1","EXON":"1/1","DOMAINS":"Gene3D:1.20.1070.10;Pfam:PF13853;PROSITE_profiles:PS50262;PANTHER:PTHR26451;PANTHER:PTHR26451:SF947;Superfamily:SSF81321;CDD:cd15234","SOMATIC":"1","IMPACT":"LOW","PICK":1,"VARIANT_CLASS":"SNV","PHENO":"1","CONTEXT":"ATGTTCACTAG","tumor_bam_uuid":"6eb937a3-23b3-4a2f-acdb-01c1bae3129b","normal_bam_uuid":"c4211041-1135-413d-9d6b-f465be25669a","case_id":"35cb7841-9b09-465a-90c5-e3b8a9faad49","COSMIC":"COSM6153072;COSM6153073","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"495","Hugo_Symbol":"DDX31","Entrez_Gene_Id":64794,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr9","Start_Position":132647002,"End_Position":132647002,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-69-7979-01A-11D-2184-08","Matched_Norm_Sample_Barcode":"TCGA-69-7979-10A-01D-2184-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"6400fd9c-3e0d-417e-823a-bf9eb0129717","Matched_Norm_Sample_UUID":"caa9cc86-69ca-4da0-9356-2b49dfc88dad","HGVSc":"c.1339G>T","HGVSp":"p.Asp447Tyr","HGVSp_Short":"p.D447Y","Transcript_ID":"ENST00000372153","Exon_Number":"12/20","t_depth":113,"t_ref_count":62,"t_alt_count":51,"n_depth":137,"all_effects":"DDX31,missense_variant,p.D447Y,ENST00000372159,NM_001322340.1&NM_022779.8&NM_001322341.2&NM_001322342.1&NM_001322343.1,c.1339G>T,MODERATE,YES,deleterious(0),possibly_damaging(0.73),-1;DDX31,missense_variant,p.D447Y,ENST00000372153,,c.1339G>T,MODERATE,,deleterious(0),possibly_damaging(0.73),-1;DDX31,missense_variant,p.D342Y,ENST00000438527,,c.1024G>T,MODERATE,,deleterious(0),possibly_damaging(0.73),-1;DDX31,missense_variant,p.D447Y,ENST00000310532,NM_138620.1,c.1339G>T,MODERATE,,deleterious(0),possibly_damaging(0.73),-1","Allele":"A","Gene":"ENSG00000125485","Feature":"ENST00000372153","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"1491/3285","CDS_position":"1339/2556","Protein_position":"447/851","Amino_acids":"D/Y","Codons":"Gac/Tac","Existing_variation":"COSV60137709","TRANSCRIPT_STRAND":-1,"SYMBOL":"DDX31","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:16715","BIOTYPE":"protein_coding","CCDS":"CCDS6951.1","ENSP":"ENSP00000361226","SWISSPROT":"Q9H8H2.161","UNIPARC":"UPI00000736CA","UNIPROT_ISOFORM":"Q9H8H2-1","APPRIS":"P4","SIFT":"deleterious(0)","PolyPhen":"possibly_damaging(0.73)","EXON":"12/20","DOMAINS":"PANTHER:PTHR24031;PANTHER:PTHR24031:SF566;SMART:SM00487;Superfamily:SSF52540","SOMATIC":"1","IMPACT":"MODERATE","VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","CONTEXT":"CTTGTCCAGGA","tumor_bam_uuid":"0db85f44-2f3a-4f28-8a66-486a47a34ce3","normal_bam_uuid":"cfba3ae5-92f5-43ab-9415-166ca42aa6dc","case_id":"a5bd7d50-9c14-49e6-89cf-6bf440c42309","COSMIC":"COSM6182677;COSM6182678;COSM6182679","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"294","Hugo_Symbol":"ATR","Entrez_Gene_Id":545,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr3","Start_Position":142535079,"End_Position":142535079,"Strand":"+","Variant_Classification":"Splice_Site","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-05-4398-01A-01D-1265-08","Matched_Norm_Sample_Barcode":"TCGA-05-4398-10A-01D-1265-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"9e4b2be6-e149-4c22-93e1-512c3c6bbea8","Matched_Norm_Sample_UUID":"27409a77-e75c-421e-9540-b45e9b98c73e","HGVSc":"c.3945+1G>T","HGVSp_Short":"p.X1315_splice","Transcript_ID":"ENST00000350721","t_depth":45,"t_ref_count":32,"t_alt_count":13,"n_depth":56,"all_effects":"ATR,splice_donor_variant,p.X1315_splice,ENST00000350721,NM_001184.4,c.3945+1G>T,HIGH,YES,,,-1;ATR,splice_donor_variant,p.X1251_splice,ENST00000661310,NM_001354579.2,c.3753+1G>T,HIGH,,,,-1;ATR,splice_donor_variant,,ENST00000653868,,n.3974+1G>T,HIGH,,,,-1;ATR,splice_donor_variant,p.X912_splice,ENST00000656590,,c.2735+1G>T,HIGH,,,,-1;ATR,downstream_gene_variant,,ENST00000515149,,,MODIFIER,,,,-1;ATR,downstream_gene_variant,,ENST00000656582,,,MODIFIER,,,,-1","Allele":"A","Gene":"ENSG00000175054","Feature":"ENST00000350721","Feature_type":"Transcript","One_Consequence":"splice_donor_variant","Consequence":"splice_donor_variant","Existing_variation":"COSV63389019","TRANSCRIPT_STRAND":-1,"SYMBOL":"ATR","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:882","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS3124.1","ENSP":"ENSP00000343741","SWISSPROT":"Q13535.191","UNIPARC":"UPI0000031A31","UNIPROT_ISOFORM":"Q13535-1","RefSeq":"NM_001184.4","MANE":"NM_001184.4","APPRIS":"P4","INTRON":"21/46","SOMATIC":"1","IMPACT":"HIGH","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","GENE_PHENO":"1","CONTEXT":"GCATACCTGAT","tumor_bam_uuid":"3443fd69-b7e9-4294-9e8c-c80ee3cc822e","normal_bam_uuid":"d0b511d6-e4b8-4202-b537-87031403e6b1","case_id":"31c96e35-5e2f-429c-b12a-7bc5a497a300","GDC_FILTER":"NonExonic","COSMIC":"COSM6096493","hotspot":"N","RNA_Support":"Unknown","callers":"muse;varscan2"}
{"X1":"68","Hugo_Symbol":"MTOR","Entrez_Gene_Id":2475,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr1","Start_Position":11121992,"End_Position":11121992,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"G","dbSNP_RS":"rs1463184901","Tumor_Sample_Barcode":"TCGA-75-5126-01A-01D-1753-08","Matched_Norm_Sample_Barcode":"TCGA-75-5126-10A-01D-1753-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"1c1ad138-a59e-4f5d-8382-54c585c9298c","Matched_Norm_Sample_UUID":"dc6811d5-d075-4023-93a5-3a26c10fcd65","HGVSc":"c.6797G>C","HGVSp":"p.Arg2266Pro","HGVSp_Short":"p.R2266P","Transcript_ID":"ENST00000361445","Exon_Number":"48/58","t_depth":31,"t_ref_count":24,"t_alt_count":7,"n_depth":36,"all_effects":"MTOR,missense_variant,p.R2266P,ENST00000361445,NM_004958.4,c.6797G>C,MODERATE,YES,deleterious(0),probably_damaging(0.995),-1;MTOR,missense_variant,p.R471P,ENST00000376838,,c.1412G>C,MODERATE,,deleterious(0),probably_damaging(0.995),-1","Allele":"G","Gene":"ENSG00000198793","Feature":"ENST00000361445","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"6918/8721","CDS_position":"6797/7650","Protein_position":"2266/2549","Amino_acids":"R/P","Codons":"cGc/cCc","Existing_variation":"rs1463184901;COSV63876076","TRANSCRIPT_STRAND":-1,"SYMBOL":"MTOR","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:3942","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS127.1","ENSP":"ENSP00000354558","SWISSPROT":"P42345.215","UNIPARC":"UPI000012ABD3","RefSeq":"NM_004958.4","MANE":"NM_004958.4","APPRIS":"P1","SIFT":"deleterious(0)","PolyPhen":"probably_damaging(0.995)","EXON":"48/58","DOMAINS":"PDB-ENSP_mappings:3jbz.A;PDB-ENSP_mappings:4jsn.A;PDB-ENSP_mappings:4jsn.B;PDB-ENSP_mappings:4jsp.A;PDB-ENSP_mappings:4jsp.B;PDB-ENSP_mappings:4jsv.A;PDB-ENSP_mappings:4jsv.B;PDB-ENSP_mappings:4jsx.A;PDB-ENSP_mappings:4jsx.B;PDB-ENSP_mappings:4jt5.A;PDB-ENSP_mappings:4jt5.B;PDB-ENSP_mappings:4jt6.A;PDB-ENSP_mappings:4jt6.B;PDB-ENSP_mappings:5flc.B;PDB-ENSP_mappings:5flc.F;PDB-ENSP_mappings:5h64.A;PDB-ENSP_mappings:5h64.a;PDB-ENSP_mappings:5wbu.A;PDB-ENSP_mappings:5wbu.B;PDB-ENSP_mappings:5wby.A;PDB-ENSP_mappings:5wby.B;PDB-ENSP_mappings:5zcs.A;PDB-ENSP_mappings:5zcs.B;PDB-ENSP_mappings:6bcu.A;PDB-ENSP_mappings:6bcu.B;PDB-ENSP_mappings:6bcx.A;PDB-ENSP_mappings:6bcx.B;PDB-ENSP_mappings:6sb0.A;PDB-ENSP_mappings:6sb0.B;PDB-ENSP_mappings:6sb2.A;PDB-ENSP_mappings:6sb2.B;PROSITE_profiles:PS50290;CDD:cd05169;PANTHER:PTHR11139;PANTHER:PTHR11139:SF9;Pfam:PF00454;SMART:SM00146;Superfamily:SSF56112","gnomAD_AF":"3.986e-06","gnomAD_AFR_AF":"0","gnomAD_AMR_AF":"0","gnomAD_ASJ_AF":"0","gnomAD_EAS_AF":"0","gnomAD_FIN_AF":"0","gnomAD_NFE_AF":"8.819e-06","gnomAD_OTH_AF":"0","gnomAD_SAS_AF":"0","MAX_AF":"8.819e-06","MAX_AF_POPS":"gnomAD_NFE","SOMATIC":"0;1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"0;1","GENE_PHENO":"1","CONTEXT":"TGATGCGATGC","tumor_bam_uuid":"5a660dda-ca47-4cba-95ca-9be08c20af85","normal_bam_uuid":"4638fe71-7220-4735-a732-5e3969b85050","case_id":"93766482-2f20-4c8f-bbd8-bdd203c37d5a","COSMIC":"COSM6057547","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2"}
{"X1":"390","Hugo_Symbol":"TTC25","Entrez_Gene_Id":0,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr17","Start_Position":41965443,"End_Position":41965443,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"A","dbSNP_RS":"rs994514258","Tumor_Sample_Barcode":"TCGA-L9-A7SV-01A-11D-A397-08","Matched_Norm_Sample_Barcode":"TCGA-L9-A7SV-10A-01D-A39A-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"d78a7316-187d-4fbd-9ea5-5b5d94569b5a","Matched_Norm_Sample_UUID":"a8d3d6c2-487c-4d5c-a93e-49d2b40c5b48","HGVSc":"c.1979C>A","HGVSp":"p.Thr660Lys","HGVSp_Short":"p.T660K","Transcript_ID":"ENST00000377540","Exon_Number":"12/12","t_depth":34,"t_ref_count":18,"t_alt_count":16,"n_depth":15,"all_effects":"TTC25,missense_variant,p.T660K,ENST00000377540,NM_031421.5&NM_001350319.2,c.1979C>A,MODERATE,YES,tolerated_low_confidence(0.08),benign(0.003),1;CNP,upstream_gene_variant,,ENST00000393888,NM_001330216.2,,MODIFIER,,,,1;CNP,upstream_gene_variant,,ENST00000393892,NM_033133.5,,MODIFIER,YES,,,1;CNP,upstream_gene_variant,,ENST00000441615,,,MODIFIER,,,,1;CNP,upstream_gene_variant,,ENST00000472031,,,MODIFIER,,,,1;CNP,upstream_gene_variant,,ENST00000585452,,,MODIFIER,,,,1;CNP,upstream_gene_variant,,ENST00000587679,,,MODIFIER,,,,1;CNP,upstream_gene_variant,,ENST00000589772,,,MODIFIER,,,,1;CNP,upstream_gene_variant,,ENST00000591945,,,MODIFIER,,,,1;CNP,upstream_gene_variant,,ENST00000592446,,,MODIFIER,,,,1;TTC25,3_prime_UTR_variant,,ENST00000591658,,c.*569C>A,MODIFIER,,,,1;CNP,upstream_gene_variant,,ENST00000592861,,,MODIFIER,,,,1","Allele":"A","Gene":"ENSG00000204815","Feature":"ENST00000377540","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"2086/3146","CDS_position":"1979/2019","Protein_position":"660/672","Amino_acids":"T/K","Codons":"aCg/aAg","Existing_variation":"rs994514258","TRANSCRIPT_STRAND":1,"SYMBOL":"TTC25","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:25280","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS74063.1","ENSP":"ENSP00000478589","SWISSPROT":"Q96NG3.152","UNIPARC":"UPI0000037C57","UNIPROT_ISOFORM":"Q96NG3-1","RefSeq":"NM_031421.5;NM_001350319.2","MANE":"NM_031421.5","APPRIS":"P1","SIFT":"tolerated_low_confidence(0.08)","PolyPhen":"benign(0.003)","EXON":"12/12","DOMAINS":"MobiDB_lite:mobidb-lite;MobiDB_lite:mobidb-lite","gnomAD_AF":"4.28e-06","gnomAD_AFR_AF":"0","gnomAD_AMR_AF":"0","gnomAD_ASJ_AF":"0","gnomAD_EAS_AF":"0","gnomAD_FIN_AF":"0","gnomAD_NFE_AF":"9.255e-06","gnomAD_OTH_AF":"0","gnomAD_SAS_AF":"0","MAX_AF":"9.255e-06","MAX_AF_POPS":"gnomAD_NFE","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"GENE_PHENO":"1","CONTEXT":"AGAAACGAAAA","tumor_bam_uuid":"d3ccde1f-1ad8-4ef0-95f7-fead69c4f111","normal_bam_uuid":"15756a48-affe-40bd-a9ed-b218270439a2","case_id":"54e90433-5218-4d83-848f-f995ecba2a63","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"526","Hugo_Symbol":"TKT","Entrez_Gene_Id":7086,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr3","Start_Position":53241219,"End_Position":53241219,"Strand":"+","Variant_Classification":"Silent","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"T","dbSNP_RS":"rs11556006","Tumor_Sample_Barcode":"TCGA-62-A46O-01A-11D-A24D-08","Matched_Norm_Sample_Barcode":"TCGA-62-A46O-10A-01D-A24F-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"ff9ce3ef-d0d4-45b0-a506-e87732d1480e","Matched_Norm_Sample_UUID":"4fb194cb-66e6-484e-b119-b27f5cf8e487","HGVSc":"c.252G>A","HGVSp":"p.Ala84=","HGVSp_Short":"p.A84=","Transcript_ID":"ENST00000423525","Exon_Number":"3/15","t_depth":30,"t_ref_count":21,"t_alt_count":9,"n_depth":34,"all_effects":"TKT,synonymous_variant,p.A84=,ENST00000462138,NM_001064.4,c.252G>A,LOW,,,,-1;TKT,synonymous_variant,p.A84=,ENST00000423525,NM_001135055.2,c.252G>A,LOW,,,,-1;TKT,synonymous_variant,p.A84=,ENST00000423516,NM_001258028.1,c.252G>A,LOW,YES,,,-1;TKT,5_prime_UTR_variant,,ENST00000296289,,c.-138G>A,MODIFIER,,,,-1;TKT,synonymous_variant,p.A84=,ENST00000450814,,c.252G>A,LOW,,,,-1;TKT,synonymous_variant,p.A84=,ENST00000469678,,c.252G>A,LOW,,,,-1;TKT,3_prime_UTR_variant,,ENST00000472528,,c.*46G>A,MODIFIER,,,,-1;TKT,non_coding_transcript_exon_variant,,ENST00000487660,,n.102G>A,MODIFIER,,,,-1;TKT,downstream_gene_variant,,ENST00000483706,,,MODIFIER,,,,-1","Allele":"T","Gene":"ENSG00000163931","Feature":"ENST00000423525","Feature_type":"Transcript","One_Consequence":"synonymous_variant","Consequence":"synonymous_variant","cDNA_position":"310/2831","CDS_position":"252/1872","Protein_position":"84/623","Amino_acids":"A","Codons":"gcG/gcA","Existing_variation":"rs11556006;COSV56247798","TRANSCRIPT_STRAND":-1,"SYMBOL":"TKT","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:11834","BIOTYPE":"protein_coding","CCDS":"CCDS2871.1","ENSP":"ENSP00000405455","SWISSPROT":"P29401.212","TREMBL":"V9HWD9.56","UNIPARC":"UPI0000137002","UNIPROT_ISOFORM":"P29401-1","RefSeq":"NM_001135055.2","APPRIS":"P1","EXON":"3/15","DOMAINS":"PDB-ENSP_mappings:3mos.A;PDB-ENSP_mappings:3ooy.A;PDB-ENSP_mappings:3ooy.B;PDB-ENSP_mappings:4kxu.A;PDB-ENSP_mappings:4kxv.A;PDB-ENSP_mappings:4kxw.A;PDB-ENSP_mappings:4kxx.A;PDB-ENSP_mappings:4kxy.A;PDB-ENSP_mappings:4kxy.B;PDB-ENSP_mappings:6ha3.A;PDB-ENSP_mappings:6had.A;PDB-ENSP_mappings:6rjb.A;PDB-ENSP_mappings:6rjb.B;Superfamily:SSF52518;Gene3D:3.40.50.970;Pfam:PF00456;PANTHER:PTHR43195;PANTHER:PTHR43195:SF3;CDD:cd02012","1000G_AF":"2e-04","1000G_AFR_AF":"0","1000G_AMR_AF":"0","1000G_EAS_AF":"0","1000G_EUR_AF":"0.001","1000G_SAS_AF":"0","gnomAD_AF":"6.72e-05","gnomAD_AFR_AF":"0","gnomAD_AMR_AF":"0","gnomAD_ASJ_AF":"0","gnomAD_EAS_AF":"0","gnomAD_FIN_AF":"0.0002935","gnomAD_NFE_AF":"6.429e-05","gnomAD_OTH_AF":"0","gnomAD_SAS_AF":"0.0001022","MAX_AF":"0.001","MAX_AF_POPS":"EUR","gnomAD_non_cancer_AF":"4.05553000746295e-05","gnomAD_non_cancer_AFR_AF":"0","gnomAD_non_cancer_AMI_AF":"0","gnomAD_non_cancer_AMR_AF":"0","gnomAD_non_cancer_ASJ_AF":"0","gnomAD_non_cancer_EAS_AF":"0","gnomAD_non_cancer_FIN_AF":"9.41088001127355e-05","gnomAD_non_cancer_MID_AF":"0","gnomAD_non_cancer_NFE_AF":"6.1720798839815e-05","gnomAD_non_cancer_OTH_AF":"0","gnomAD_non_cancer_SAS_AF":"0.0002088549954351","gnomAD_non_cancer_MAX_AF_adj":"6.1720798839815e-05","gnomAD_non_cancer_MAX_AF_POPS_adj":"nfe","SOMATIC":"0;1","IMPACT":"LOW","VARIANT_CLASS":"SNV","TSL":1,"PHENO":"0;1","GENE_PHENO":"1","CONTEXT":"CAGACCGCGTA","tumor_bam_uuid":"bd40159e-39f2-452f-b9a3-b25f9dfc31b7","normal_bam_uuid":"81f053ce-3443-4a62-9615-08e9ca5ebeae","case_id":"d7ae8efb-aa4d-4807-9772-55b0a28ccd5c","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"296","Hugo_Symbol":"NRXN1","Entrez_Gene_Id":9378,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr2","Start_Position":50497520,"End_Position":50497520,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-75-6214-01A-41D-1945-08","Matched_Norm_Sample_Barcode":"TCGA-75-6214-10A-01D-1946-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"386c643d-476f-4d19-ab4b-2f33371f90ec","Matched_Norm_Sample_UUID":"945fa648-2f7f-4447-83cb-18b2d40dbe3f","HGVSc":"c.2692G>T","HGVSp":"p.Gly898Cys","HGVSp_Short":"p.G898C","Transcript_ID":"ENST00000406316","Exon_Number":"14/22","t_depth":103,"t_ref_count":40,"t_alt_count":63,"n_depth":43,"all_effects":"NRXN1,missense_variant,p.G898C,ENST00000406316,NM_001330083.1&NM_001330095.1&NM_004801.5,c.2692G>T,MODERATE,,deleterious(0),probably_damaging(0.999),-1;NRXN1,missense_variant,p.G898C,ENST00000401669,NM_001330078.2&NM_001330093.1&NM_001330094.1&NM_001330085.1&NM_001330086.1,c.2692G>T,MODERATE,,deleterious(0),probably_damaging(0.984),-1;NRXN1,missense_variant,p.G890C,ENST00000625672,NM_001330082.1,c.2668G>T,MODERATE,,deleterious(0),probably_damaging(0.984),-1;NRXN1,missense_variant,p.G938C,ENST00000404971,NM_001135659.2,c.2812G>T,MODERATE,YES,deleterious(0),probably_damaging(0.995),-1;NRXN1,missense_variant,p.G886C,ENST00000405472,NM_001330096.1&NM_001330087.1&NM_001330084.1&NM_001330088.1,c.2656G>T,MODERATE,,deleterious(0),probably_damaging(1),-1;NRXN1,missense_variant,p.G890C,ENST00000630543,NM_001330077.1,c.2668G>T,MODERATE,,deleterious(0),probably_damaging(1),-1;NRXN1,downstream_gene_variant,,ENST00000495871,,,MODIFIER,,,,-1;NRXN1,upstream_gene_variant,,ENST00000625320,,,MODIFIER,,,,-1;NRXN1,non_coding_transcript_exon_variant,,ENST00000636298,,n.1591G>T,MODIFIER,,,,-1;NRXN1,upstream_gene_variant,,ENST00000637889,,,MODIFIER,,,,-1;NRXN1,missense_variant,p.G616C,ENST00000331040,,c.1846G>T,MODERATE,,deleterious(0),probably_damaging(1),-1;NRXN1,non_coding_transcript_exon_variant,,ENST00000462791,,n.668G>T,MODIFIER,,,,-1;NRXN1,downstream_gene_variant,,ENST00000474354,,,MODIFIER,,,,-1;NRXN1,upstream_gene_variant,,ENST00000626192,,,MODIFIER,,,,-1","Allele":"A","Gene":"ENSG00000179915","Feature":"ENST00000406316","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"4194/9375","CDS_position":"2692/4434","Protein_position":"898/1477","Amino_acids":"G/C","Codons":"Ggc/Tgc","Existing_variation":"COSV58462159","TRANSCRIPT_STRAND":-1,"SYMBOL":"NRXN1","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:8008","BIOTYPE":"protein_coding","CCDS":"CCDS54360.1","ENSP":"ENSP00000384311","SWISSPROT":"Q9ULB1.198","UNIPARC":"UPI0000130A9D","UNIPROT_ISOFORM":"Q9ULB1-1","RefSeq":"NM_001330083.1;NM_001330095.1;NM_004801.5","SIFT":"deleterious(0)","PolyPhen":"probably_damaging(0.999)","EXON":"14/22","DOMAINS":"Gene3D:2.60.120.200;PANTHER:PTHR15036;PANTHER:PTHR15036:SF51;Superfamily:SSF49899","SOMATIC":"1","IMPACT":"MODERATE","VARIANT_CLASS":"SNV","TSL":5,"PHENO":"1","GENE_PHENO":"1","CONTEXT":"GAAGCCAAATC","tumor_bam_uuid":"55381b30-133e-4777-a80b-e1acdc71558d","normal_bam_uuid":"82cac576-d1c9-418a-a614-674fcf6696cd","case_id":"32592562-11fa-435a-b40b-2b242bae53aa","COSMIC":"COSM6158448;COSM6158449;COSM6158450;COSM6158451","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"127","Hugo_Symbol":"MIR516A2","Entrez_Gene_Id":574499,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr19","Start_Position":53761139,"End_Position":53761139,"Strand":"+","Variant_Classification":"RNA","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-73-4668-01A-01D-1265-08","Matched_Norm_Sample_Barcode":"TCGA-73-4668-11A-01D-1265-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"0fdcb5e9-ada2-4755-ae02-491037ee9c10","Matched_Norm_Sample_UUID":"b38d41b2-1280-4721-ad18-9e568a2f3827","HGVSc":"n.7G>A","Transcript_ID":"ENST00000384888","Exon_Number":"1/1","t_depth":156,"t_ref_count":103,"t_alt_count":52,"n_depth":200,"all_effects":"MIR516A2,non_coding_transcript_exon_variant,,ENST00000384888,,n.7G>A,MODIFIER,YES,,,1;MIR519A2,upstream_gene_variant,,ENST00000384990,,,MODIFIER,YES,,,1;MIR516A1,downstream_gene_variant,,ENST00000385033,,,MODIFIER,YES,,,1;MIR1283-2,downstream_gene_variant,,ENST00000408621,,,MODIFIER,YES,,,1;RNU6-1041P,upstream_gene_variant,,ENST00000516254,,,MODIFIER,YES,,,-1;AC011453.1,upstream_gene_variant,,ENST00000597619,,,MODIFIER,YES,,,1","Allele":"A","Gene":"ENSG00000207620","Feature":"ENST00000384888","Feature_type":"Transcript","One_Consequence":"non_coding_transcript_exon_variant","Consequence":"non_coding_transcript_exon_variant","cDNA_position":"7/90","TRANSCRIPT_STRAND":1,"SYMBOL":"MIR516A2","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:32131","BIOTYPE":"miRNA","CANONICAL":"YES","EXON":"1/1","miRNA":"miRNA_stem","IMPACT":"MODIFIER","PICK":1,"VARIANT_CLASS":"SNV","CONTEXT":"CTCAGGTTGTG","tumor_bam_uuid":"06a63ffb-7f62-4f04-9b3f-06e63018ea65","normal_bam_uuid":"ba0eabdc-1ccb-432c-82e7-399be715d06a","case_id":"b2285924-9813-4f46-bb8f-91a0efd8a9b6","COSMIC":"COSN24408604","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"407","Hugo_Symbol":"NRG1","Entrez_Gene_Id":3084,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr8","Start_Position":32763920,"End_Position":32763920,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"T","Tumor_Sample_Barcode":"TCGA-35-5375-01A-01D-1625-08","Matched_Norm_Sample_Barcode":"TCGA-35-5375-10A-01D-1625-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"63e76bef-3ef1-445f-b591-649d774729cd","Matched_Norm_Sample_UUID":"7239290c-75aa-4e69-a58d-95e43ea4c9cf","HGVSc":"c.1441G>T","HGVSp":"p.Val481Leu","HGVSp_Short":"p.V481L","Transcript_ID":"ENST00000405005","Exon_Number":"12/12","t_depth":61,"t_ref_count":40,"t_alt_count":21,"n_depth":54,"all_effects":"NRG1,missense_variant,p.V448L,ENST00000652698,NM_001159995.3,c.1342G>T,MODERATE,,tolerated(0.71),probably_damaging(0.998),1;NRG1,missense_variant,p.V541L,ENST00000652592,NM_001322205.2&NM_001322197.2,c.1621G>T,MODERATE,,tolerated(0.63),probably_damaging(0.998),1;NRG1,missense_variant,p.V478L,ENST00000356819,NM_013957.5,c.1432G>T,MODERATE,,tolerated(0.71),probably_damaging(0.927),1;NRG1,missense_variant,p.V554L,ENST00000523534,,c.1660G>T,MODERATE,YES,tolerated(0.68),probably_damaging(0.998),1;NRG1,missense_variant,p.V486L,ENST00000287842,NM_013956.5,c.1456G>T,MODERATE,,tolerated(0.7),probably_damaging(0.924),1;NRG1,missense_variant,p.V481L,ENST00000405005,NM_013964.5,c.1441G>T,MODERATE,,tolerated(0.7),probably_damaging(0.998),1;NRG1,missense_variant,p.V465L,ENST00000650866,NM_001159999.3,c.1393G>T,MODERATE,,tolerated(0.7),probably_damaging(0.93),1;NRG1,missense_variant,p.V431L,ENST00000519301,NM_001322201.2&NM_001160001.3&NM_001322202.2,c.1291G>T,MODERATE,,tolerated(0.71),probably_damaging(0.997),1;NRG1,3_prime_UTR_variant,,ENST00000651333,NM_001322206.2,c.*194G>T,MODIFIER,,,,1;NRG1,3_prime_UTR_variant,,ENST00000539990,NM_001159996.2,c.*194G>T,MODIFIER,,,,1;NRG1,3_prime_UTR_variant,,ENST00000650980,NM_001160004.3,c.*194G>T,MODIFIER,,,,1;NRG1,3_prime_UTR_variant,,ENST00000521670,NM_013960.5,c.*194G>T,MODIFIER,,,,1;NRG1,intron_variant,,ENST00000651335,,c.942+3514G>T,MODIFIER,,,,1;NRG1,downstream_gene_variant,,ENST00000523079,NM_001160008.2,,MODIFIER,,,,1;NRG1,downstream_gene_variant,,ENST00000650819,NM_001322207.2,,MODIFIER,,,,1;NRG1,downstream_gene_variant,,ENST00000652588,,,MODIFIER,,,,1;NRG1,3_prime_UTR_variant,,ENST00000651696,,c.*1057G>T,MODIFIER,,,,1;NRG1,3_prime_UTR_variant,,ENST00000650856,,c.*614G>T,MODIFIER,,,,1","Allele":"T","Gene":"ENSG00000157168","Feature":"ENST00000405005","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"1441/1992","CDS_position":"1441/1923","Protein_position":"481/640","Amino_acids":"V/L","Codons":"Gtg/Ttg","Existing_variation":"COSV55150712;COSV55163333;COSV99827476","TRANSCRIPT_STRAND":1,"SYMBOL":"NRG1","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:7997","BIOTYPE":"protein_coding","CCDS":"CCDS6085.1","ENSP":"ENSP00000384620","SWISSPROT":"Q02297.227","UNIPARC":"UPI000013DED6","UNIPROT_ISOFORM":"Q02297-1","RefSeq":"NM_013964.5","APPRIS":"P4","SIFT":"tolerated(0.7)","PolyPhen":"probably_damaging(0.998)","EXON":"12/12","DOMAINS":"Low_complexity_(Seg):seg;Pfam:PF02158;PANTHER:PTHR11100;PANTHER:PTHR11100:SF7","SOMATIC":"1;1;1","IMPACT":"MODERATE","VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1;1;1","GENE_PHENO":"1","CONTEXT":"TTCTCGTGACA","tumor_bam_uuid":"00829e4b-149c-4879-91e0-cdea050080e5","normal_bam_uuid":"998fc735-996f-4166-8a1c-334a92c04955","case_id":"5d2a9a4f-678d-4089-a8c5-81a5cb696629","COSMIC":"COSM6112983;COSM6112984;COSM6112985","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"355","Hugo_Symbol":"PCDH17","Entrez_Gene_Id":27253,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr13","Start_Position":57633552,"End_Position":57633552,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"A","Tumor_Seq_Allele1":"A","Tumor_Seq_Allele2":"G","Tumor_Sample_Barcode":"TCGA-MP-A4T7-01A-11D-A24P-08","Matched_Norm_Sample_Barcode":"TCGA-MP-A4T7-10A-01D-A24P-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"ca00df38-78b5-4d6a-b496-caea39b8295d","Matched_Norm_Sample_UUID":"5bc11e96-fbe0-4f14-8720-1bcc96950133","HGVSc":"c.1006A>G","HGVSp":"p.Lys336Glu","HGVSp_Short":"p.K336E","Transcript_ID":"ENST00000377918","Exon_Number":"1/4","t_depth":106,"t_ref_count":82,"t_alt_count":24,"n_depth":76,"all_effects":"PCDH17,missense_variant,p.K336E,ENST00000377918,NM_001040429.3,c.1006A>G,MODERATE,YES,deleterious(0),probably_damaging(0.999),1;PCDH17,upstream_gene_variant,,ENST00000612954,,,MODIFIER,,,,1;PCDH17,upstream_gene_variant,,ENST00000615375,,,MODIFIER,,,,1;PCDH17,missense_variant,p.K336E,ENST00000484979,,c.1006A>G,MODERATE,,deleterious(0),probably_damaging(0.999),1;AL445288.1,non_coding_transcript_exon_variant,,ENST00000610846,,n.24T>C,MODIFIER,YES,,,-1","Allele":"G","Gene":"ENSG00000118946","Feature":"ENST00000377918","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"1809/8300","CDS_position":"1006/3480","Protein_position":"336/1159","Amino_acids":"K/E","Codons":"Aaa/Gaa","Existing_variation":"COSV100932154","TRANSCRIPT_STRAND":1,"SYMBOL":"PCDH17","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:14267","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS31986.1","ENSP":"ENSP00000367151","SWISSPROT":"O14917.165","UNIPARC":"UPI00001FCE5B","UNIPROT_ISOFORM":"O14917-1","RefSeq":"NM_001040429.3","MANE":"NM_001040429.3","APPRIS":"P1","SIFT":"deleterious(0)","PolyPhen":"probably_damaging(0.999)","EXON":"1/4","DOMAINS":"Gene3D:2.60.40.60;PDB-ENSP_mappings:6vft.A;PDB-ENSP_mappings:6vft.B;PDB-ENSP_mappings:6vft.C;PDB-ENSP_mappings:6vft.D;Pfam:PF00028;PROSITE_profiles:PS50268;PANTHER:PTHR24028;PANTHER:PTHR24028:SF41;SMART:SM00112;Superfamily:SSF49313;CDD:cd11304","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","CONTEXT":"ACTGCAAAGTC","tumor_bam_uuid":"de90cf5c-ba39-4126-9676-a35f23691898","normal_bam_uuid":"1895dd7a-9d7c-4a7e-8735-cc98d2de59b9","case_id":"47062ad2-ba82-45c8-a871-bdea84f0c405","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"471","Hugo_Symbol":"PDZRN3","Entrez_Gene_Id":23024,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr3","Start_Position":73383929,"End_Position":73383929,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"T","dbSNP_RS":"novel","Tumor_Sample_Barcode":"TCGA-17-Z059-01A-01W-0747-08","Matched_Norm_Sample_Barcode":"TCGA-17-Z059-11A-01W-0747-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"88ec6fb4-1b81-422e-8204-ef9e8dbf260c","Matched_Norm_Sample_UUID":"a7792af9-976e-44a2-b6df-4f450205ec29","HGVSc":"c.2637C>A","HGVSp":"p.His879Gln","HGVSp_Short":"p.H879Q","Transcript_ID":"ENST00000263666","Exon_Number":"10/10","t_depth":60,"t_ref_count":43,"t_alt_count":17,"n_depth":76,"all_effects":"PDZRN3,missense_variant,p.H879Q,ENST00000263666,NM_015009.3,c.2637C>A,MODERATE,YES,tolerated(0.07),possibly_damaging(0.663),-1;PDZRN3,missense_variant,p.H536Q,ENST00000462146,NM_001303141.1,c.1608C>A,MODERATE,,tolerated(0.13),possibly_damaging(0.663),-1;PDZRN3,missense_variant,p.H596Q,ENST00000479530,NM_001303142.2,c.1788C>A,MODERATE,,tolerated(0.13),possibly_damaging(0.451),-1;PDZRN3,missense_variant,p.H536Q,ENST00000466780,NM_001303140.2,c.1608C>A,MODERATE,,tolerated(0.13),possibly_damaging(0.663),-1;PDZRN3,intron_variant,,ENST00000494559,,c.708-124C>A,MODIFIER,,,,-1;PDZRN3,downstream_gene_variant,,ENST00000492909,NM_001303139.1,,MODIFIER,,,,-1;PDZRN3,downstream_gene_variant,,ENST00000466348,,,MODIFIER,,,,-1;PDZRN3,downstream_gene_variant,,ENST00000478209,,,MODIFIER,,,,-1;PDZRN3,downstream_gene_variant,,ENST00000484487,,,MODIFIER,,,,-1","Allele":"T","Gene":"ENSG00000121440","Feature":"ENST00000263666","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"2753/4251","CDS_position":"2637/3201","Protein_position":"879/1066","Amino_acids":"H/Q","Codons":"caC/caA","TRANSCRIPT_STRAND":-1,"SYMBOL":"PDZRN3","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:17704","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS33789.1","ENSP":"ENSP00000263666","SWISSPROT":"Q9UPQ7.174","UNIPARC":"UPI00001C1DE6","UNIPROT_ISOFORM":"Q9UPQ7-1","RefSeq":"NM_015009.3","MANE":"NM_015009.3","APPRIS":"P1","SIFT":"tolerated(0.07)","PolyPhen":"possibly_damaging(0.663)","EXON":"10/10","DOMAINS":"PANTHER:PTHR15545;PANTHER:PTHR15545:SF5","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"CONTEXT":"TGGTAGTGCTG","tumor_bam_uuid":"2794b56c-aa7d-4de3-905b-349c6d9e6578","normal_bam_uuid":"e2276912-3be2-4ce4-ab89-fbadd53e869a","case_id":"77bb204d-4e68-4c93-905f-9ef4c53b1ce2","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"219","Hugo_Symbol":"MAGEC1","Entrez_Gene_Id":9947,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chrX","Start_Position":141907598,"End_Position":141907598,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-55-8089-01A-11D-2238-08","Matched_Norm_Sample_Barcode":"TCGA-55-8089-10A-01D-2238-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"a5056023-b935-4a18-821b-2ff8562b2c2a","Matched_Norm_Sample_UUID":"4380ca33-2c75-4d97-9112-38a626c1cc6d","HGVSc":"c.2194C>A","HGVSp":"p.Gln732Lys","HGVSp_Short":"p.Q732K","Transcript_ID":"ENST00000285879","Exon_Number":"4/4","t_depth":169,"t_ref_count":127,"t_alt_count":42,"n_depth":148,"all_effects":"MAGEC1,missense_variant,p.Q732K,ENST00000285879,NM_005462.5,c.2194C>A,MODERATE,YES,deleterious_low_confidence(0.01),benign(0.033),1;MAGEC1,intron_variant,,ENST00000406005,,c.-114-492C>A,MODIFIER,,,,1","Allele":"A","Gene":"ENSG00000155495","Feature":"ENST00000285879","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"2480/4256","CDS_position":"2194/3429","Protein_position":"732/1142","Amino_acids":"Q/K","Codons":"Cag/Aag","Existing_variation":"COSV53578051","TRANSCRIPT_STRAND":1,"SYMBOL":"MAGEC1","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:6812","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS35417.1","ENSP":"ENSP00000285879","SWISSPROT":"O60732.142","UNIPARC":"UPI000006F2FD","UNIPROT_ISOFORM":"O60732-1","RefSeq":"NM_005462.5","MANE":"NM_005462.5","APPRIS":"P4","SIFT":"deleterious_low_confidence(0.01)","PolyPhen":"benign(0.033)","EXON":"4/4","DOMAINS":"PANTHER:PTHR11736;PANTHER:PTHR11736:SF17;MobiDB_lite:mobidb-lite;MobiDB_lite:mobidb-lite","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","CONTEXT":"CTCCTCAGGGG","tumor_bam_uuid":"4eb81955-eeef-4d54-9d97-ddeb3337a1cf","normal_bam_uuid":"da0262c0-f23a-475c-9c8b-80b9c2798d14","case_id":"1070ff27-17c9-43dd-a4f6-daa643eb9123","COSMIC":"COSM6186004","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"36","Hugo_Symbol":"NRXN1","Entrez_Gene_Id":9378,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr2","Start_Position":51026403,"End_Position":51026403,"Strand":"+","Variant_Classification":"Intron","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"A","dbSNP_RS":"rs1181781149","Tumor_Sample_Barcode":"TCGA-99-8025-01A-11D-2238-08","Matched_Norm_Sample_Barcode":"TCGA-99-8025-10A-01D-2238-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"6dcfb0d1-85c6-453b-9c2d-774545504b1c","Matched_Norm_Sample_UUID":"d25a3ca9-39ef-4fff-968a-1f2056aaf43e","HGVSc":"c.772+1099G>T","Transcript_ID":"ENST00000406316","t_depth":18,"t_ref_count":12,"t_alt_count":6,"n_depth":19,"all_effects":"NRXN1,missense_variant,p.C280F,ENST00000404971,NM_001135659.2,c.839G>T,MODERATE,YES,tolerated(0.13),benign(0),-1;NRXN1,missense_variant,p.C90F,ENST00000627198,,c.269G>T,MODERATE,,deleterious_low_confidence(0.03),probably_damaging(0.922),-1;NRXN1,intron_variant,,ENST00000401669,NM_001330078.2&NM_001330093.1&NM_001330094.1&NM_001330085.1&NM_001330086.1,c.772+1099G>T,MODIFIER,,,,-1;NRXN1,intron_variant,,ENST00000405472,NM_001330096.1&NM_001330087.1&NM_001330084.1&NM_001330088.1,c.772+1099G>T,MODIFIER,,,,-1;NRXN1,intron_variant,,ENST00000405581,NM_001330081.2,c.772+1099G>T,MODIFIER,,,,-1;NRXN1,intron_variant,,ENST00000406316,NM_001330083.1&NM_001330095.1&NM_004801.5,c.772+1099G>T,MODIFIER,,,,-1;NRXN1,intron_variant,,ENST00000496792,NM_001330089.1,c.297+1099G>T,MODIFIER,,,,-1;NRXN1,intron_variant,,ENST00000625672,NM_001330082.1,c.772+1099G>T,MODIFIER,,,,-1;NRXN1,intron_variant,,ENST00000626899,NM_001330079.2,c.772+1099G>T,MODIFIER,,,,-1;NRXN1,intron_variant,,ENST00000628515,,c.772+1099G>T,MODIFIER,,,,-1;NRXN1,intron_variant,,ENST00000630543,NM_001330077.1,c.772+1099G>T,MODIFIER,,,,-1;NRXN1,intron_variant,,ENST00000636066,NM_001330090.1,c.329+1099G>T,MODIFIER,,,,-1;NRXN1,intron_variant,,ENST00000637511,,c.772+1099G>T,MODIFIER,,,,-1;NRXN1,intron_variant,,ENST00000675235,,c.772+1099G>T,MODIFIER,,,,-1;NRXN1,intron_variant,,ENST00000637679,,n.66+1099G>T,MODIFIER,,,,-1;NRXN1,downstream_gene_variant,,ENST00000635310,,,MODIFIER,,,,-1;NRXN1,downstream_gene_variant,,ENST00000637006,,,MODIFIER,,,,-1;NRXN1,downstream_gene_variant,,ENST00000638060,,,MODIFIER,,,,-1","Allele":"A","Gene":"ENSG00000179915","Feature":"ENST00000406316","Feature_type":"Transcript","One_Consequence":"intron_variant","Consequence":"intron_variant","Existing_variation":"rs1181781149;COSV68020353","TRANSCRIPT_STRAND":-1,"SYMBOL":"NRXN1","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:8008","BIOTYPE":"protein_coding","CCDS":"CCDS54360.1","ENSP":"ENSP00000384311","SWISSPROT":"Q9ULB1.198","UNIPARC":"UPI0000130A9D","UNIPROT_ISOFORM":"Q9ULB1-1","RefSeq":"NM_001330083.1;NM_001330095.1;NM_004801.5","INTRON":"2/21","gnomAD_AF":"4.318e-06","gnomAD_AFR_AF":"0","gnomAD_AMR_AF":"0","gnomAD_ASJ_AF":"0","gnomAD_EAS_AF":"0","gnomAD_FIN_AF":"0","gnomAD_NFE_AF":"9.701e-06","gnomAD_OTH_AF":"0","gnomAD_SAS_AF":"0","MAX_AF":"9.701e-06","MAX_AF_POPS":"gnomAD_NFE","SOMATIC":"0;1","IMPACT":"MODIFIER","VARIANT_CLASS":"SNV","TSL":5,"PHENO":"0;1","GENE_PHENO":"1","CONTEXT":"TACAACAGTAT","tumor_bam_uuid":"dff849b7-8eca-48dc-9d2d-8a3422ae4ece","normal_bam_uuid":"399666ad-7274-4b23-a2c2-049c32c91301","case_id":"84c3ba70-afa7-4b69-be69-7ec8d6022c56","COSMIC":"COSM6158410;COSM6158411","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"77","Hugo_Symbol":"WWC1","Entrez_Gene_Id":23286,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr5","Start_Position":168423621,"End_Position":168423621,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"T","Tumor_Sample_Barcode":"TCGA-MP-A4TA-01A-21D-A24P-08","Matched_Norm_Sample_Barcode":"TCGA-MP-A4TA-10A-01D-A24P-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"453b2461-e5a5-425d-9bdf-be89453081a7","Matched_Norm_Sample_UUID":"f53cff28-bc8a-4fdd-86d6-c1510d052eed","HGVSc":"c.1363G>T","HGVSp":"p.Asp455Tyr","HGVSp_Short":"p.D455Y","Transcript_ID":"ENST00000265293","Exon_Number":"11/23","t_depth":135,"t_ref_count":117,"t_alt_count":18,"n_depth":148,"all_effects":"WWC1,missense_variant,p.D455Y,ENST00000265293,NM_015238.3,c.1363G>T,MODERATE,,deleterious(0),possibly_damaging(0.832),1;WWC1,missense_variant,p.D417Y,ENST00000393895,,c.1249G>T,MODERATE,,deleterious(0),probably_damaging(0.986),1;WWC1,missense_variant,p.D455Y,ENST00000521089,NM_001161661.2&NM_001161662.2,c.1363G>T,MODERATE,YES,deleterious(0),probably_damaging(0.939),1;WWC1,missense_variant,p.D232Y,ENST00000524228,,c.694G>T,MODERATE,,deleterious(0.01),probably_damaging(0.967),1;WWC1,downstream_gene_variant,,ENST00000517425,,,MODIFIER,,,,1;WWC1,downstream_gene_variant,,ENST00000518334,,,MODIFIER,,,,1","Allele":"T","Gene":"ENSG00000113645","Feature":"ENST00000265293","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"1871/7136","CDS_position":"1363/3342","Protein_position":"455/1113","Amino_acids":"D/Y","Codons":"Gac/Tac","Existing_variation":"COSV54649221;COSV99514647","TRANSCRIPT_STRAND":1,"SYMBOL":"WWC1","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:29435","BIOTYPE":"protein_coding","CCDS":"CCDS4366.1","ENSP":"ENSP00000265293","SWISSPROT":"Q8IX03.141","UNIPARC":"UPI000007443D","UNIPROT_ISOFORM":"Q8IX03-1","RefSeq":"NM_015238.3","MANE":"NM_015238.3","APPRIS":"P4","SIFT":"deleterious(0)","PolyPhen":"possibly_damaging(0.832)","EXON":"11/23","DOMAINS":"Low_complexity_(Seg):seg;PANTHER:PTHR14791;PANTHER:PTHR14791:SF22","SOMATIC":"1;1","IMPACT":"MODERATE","VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1;1","GENE_PHENO":"1","CONTEXT":"GCCTGGACTCC","tumor_bam_uuid":"f020659f-320d-49e3-a4c6-2955c52f08d7","normal_bam_uuid":"2817a076-d485-4e5f-b5a9-0a174816b898","case_id":"98ee294a-46ed-4572-bdd4-a932c3498a25","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"272","Hugo_Symbol":"SORCS1","Entrez_Gene_Id":114815,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr10","Start_Position":106620450,"End_Position":106620450,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"A","dbSNP_RS":"rs1261040539","Tumor_Sample_Barcode":"TCGA-73-A9RS-01A-11D-A410-08","Matched_Norm_Sample_Barcode":"TCGA-73-A9RS-10A-01D-A413-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"7c89393e-6976-44d5-896d-5648b0d092f4","Matched_Norm_Sample_UUID":"3ad125f9-b7cc-4814-b1e8-983a26dcd72c","HGVSc":"c.2774G>T","HGVSp":"p.Trp925Leu","HGVSp_Short":"p.W925L","Transcript_ID":"ENST00000263054","Exon_Number":"20/26","t_depth":62,"t_ref_count":45,"t_alt_count":16,"n_depth":108,"all_effects":"SORCS1,missense_variant,p.W925L,ENST00000263054,NM_001206570.2&NM_052918.5&NM_001013031.3&NM_001206572.2&NM_001206569.2&NM_001206571.2,c.2774G>T,MODERATE,YES,deleterious(0.01),probably_damaging(0.999),-1;SORCS1,missense_variant,p.W683L,ENST00000612154,,c.2048G>T,MODERATE,,deleterious(0.01),probably_damaging(0.999),-1;SORCS1,missense_variant,p.W683L,ENST00000622431,,c.2048G>T,MODERATE,,deleterious(0.01),probably_damaging(0.999),-1;SORCS1,missense_variant,p.W683L,ENST00000344440,,c.2048G>T,MODERATE,,deleterious(0.01),possibly_damaging(0.644),-1;SORCS1,missense_variant,p.W460L,ENST00000369698,,c.1379G>T,MODERATE,,deleterious(0.02),probably_damaging(0.999),-1;SORCS1,upstream_gene_variant,,ENST00000478809,,,MODIFIER,,,,-1;SORCS1,non_coding_transcript_exon_variant,,ENST00000486192,,n.300G>T,MODIFIER,,,,-1","Allele":"A","Gene":"ENSG00000108018","Feature":"ENST00000263054","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"2782/7272","CDS_position":"2774/3507","Protein_position":"925/1168","Amino_acids":"W/L","Codons":"tGg/tTg","Existing_variation":"rs1261040539;COSV99551317","TRANSCRIPT_STRAND":-1,"SYMBOL":"SORCS1","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:16697","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS7559.1","ENSP":"ENSP00000263054","SWISSPROT":"Q8WY21.153","UNIPARC":"UPI00001AE866","UNIPROT_ISOFORM":"Q8WY21-1","RefSeq":"NM_001206570.2;NM_052918.5;NM_001013031.3;NM_001206572.2;NM_001206569.2;NM_001206571.2","APPRIS":"P1","SIFT":"deleterious(0.01)","PolyPhen":"probably_damaging(0.999)","EXON":"20/26","DOMAINS":"PANTHER:PTHR12106:SF8;PANTHER:PTHR12106;Superfamily:SSF49299","gnomAD_AF":"0","gnomAD_AFR_AF":"0","gnomAD_AMR_AF":"0","gnomAD_ASJ_AF":"0","gnomAD_EAS_AF":"0","gnomAD_FIN_AF":"0","gnomAD_NFE_AF":"0","gnomAD_OTH_AF":"0","gnomAD_SAS_AF":"0","MAX_AF":"0","MAX_AF_POPS":"gnomAD_AFR;gnomAD_AMR;gnomAD_ASJ;gnomAD_EAS;gnomAD_FIN;gnomAD_NFE;gnomAD_OTH;gnomAD_SAS","SOMATIC":"0;1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"0;1","CONTEXT":"ACCACCACACG","tumor_bam_uuid":"2ebbaf59-2d2d-46d9-a3b1-9926c4d982ab","normal_bam_uuid":"9a730bc0-3aa1-496a-8c7a-cc6f3d4320b6","case_id":"2a394996-809f-459f-a647-d209921ccbd2","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"548","Hugo_Symbol":"RHOJ","Entrez_Gene_Id":57381,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr14","Start_Position":63269164,"End_Position":63269164,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"T","Tumor_Sample_Barcode":"TCGA-95-7947-01A-11D-2184-08","Matched_Norm_Sample_Barcode":"TCGA-95-7947-10A-01D-2184-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"9a9ed047-e91a-46e2-a054-82f000bc35ea","Matched_Norm_Sample_UUID":"81a2d022-e55f-49c7-856c-9258fd01c9e5","HGVSc":"c.233G>T","HGVSp":"p.Gly78Val","HGVSp_Short":"p.G78V","Transcript_ID":"ENST00000316754","Exon_Number":"2/5","t_depth":99,"t_ref_count":80,"t_alt_count":19,"n_depth":127,"all_effects":"RHOJ,missense_variant,p.G78V,ENST00000316754,NM_020663.5,c.233G>T,MODERATE,YES,deleterious(0),probably_damaging(0.996),1;RHOJ,missense_variant,p.G78V,ENST00000555125,,c.233G>T,MODERATE,,deleterious(0),probably_damaging(1),1;RHOJ,non_coding_transcript_exon_variant,,ENST00000557133,,n.418G>T,MODIFIER,,,,1;RHOJ,missense_variant,p.G78V,ENST00000557447,,c.233G>T,MODERATE,,deleterious(0),probably_damaging(1),1","Allele":"T","Gene":"ENSG00000126785","Feature":"ENST00000316754","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"660/3556","CDS_position":"233/645","Protein_position":"78/214","Amino_acids":"G/V","Codons":"gGa/gTa","Existing_variation":"COSV100370203","TRANSCRIPT_STRAND":1,"SYMBOL":"RHOJ","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:688","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS9757.1","ENSP":"ENSP00000316729","SWISSPROT":"Q9H4E5.164","TREMBL":"A0A024R692.48","UNIPARC":"UPI0000133894","UNIPROT_ISOFORM":"Q9H4E5-1","RefSeq":"NM_020663.5","MANE":"NM_020663.5","APPRIS":"P1","SIFT":"deleterious(0)","PolyPhen":"probably_damaging(0.996)","EXON":"2/5","DOMAINS":"PROSITE_profiles:PS51420;PANTHER:PTHR24072:SF17;PANTHER:PTHR24072;Gene3D:3.40.50.300;TIGRFAM:TIGR00231;Pfam:PF00071;SMART:SM00175;SMART:SM00173;SMART:SM00174;Superfamily:SSF52540;Prints:PR00449","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","CONTEXT":"CGCGGGACAGG","tumor_bam_uuid":"e869b698-0e87-47db-9090-d3d952de2d37","normal_bam_uuid":"0cc63227-1592-473c-9a39-ead01b554831","case_id":"e0acafdd-06d0-48a6-bd68-577ef666a419","hotspot":"N","RNA_Support":"Unknown","callers":"muse;varscan2"}
{"X1":"366","Hugo_Symbol":"LHFPL4","Entrez_Gene_Id":375323,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr3","Start_Position":9552385,"End_Position":9552385,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-44-7669-01A-21D-2063-08","Matched_Norm_Sample_Barcode":"TCGA-44-7669-10A-01D-2063-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"9d19ad71-e908-4847-8b5f-c76c63216b53","Matched_Norm_Sample_UUID":"94563be5-dde7-4c55-bc6e-14f2a1243839","HGVSc":"c.295G>T","HGVSp":"p.Val99Leu","HGVSp_Short":"p.V99L","Transcript_ID":"ENST00000287585","Exon_Number":"2/4","t_depth":54,"t_ref_count":36,"t_alt_count":18,"n_depth":61,"all_effects":"LHFPL4,missense_variant,p.V99L,ENST00000287585,NM_198560.3,c.295G>T,MODERATE,YES,deleterious(0.01),possibly_damaging(0.746),-1;LHFPL4,upstream_gene_variant,,ENST00000495730,,,MODIFIER,,,,-1;LHFPL4,downstream_gene_variant,,ENST00000498277,,,MODIFIER,,,,-1","Allele":"A","Gene":"ENSG00000156959","Feature":"ENST00000287585","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"601/4900","CDS_position":"295/744","Protein_position":"99/247","Amino_acids":"V/L","Codons":"Gtg/Ttg","Existing_variation":"COSV99805416","TRANSCRIPT_STRAND":-1,"SYMBOL":"LHFPL4","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:29568","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS33691.1","ENSP":"ENSP00000287585","SWISSPROT":"Q7Z7J7.97","UNIPARC":"UPI000019B16A","RefSeq":"NM_198560.3","MANE":"NM_198560.3","APPRIS":"P1","SIFT":"deleterious(0.01)","PolyPhen":"possibly_damaging(0.746)","EXON":"2/4","DOMAINS":"Gene3D:1.20.140.150;Pfam:PF10242;PANTHER:PTHR12489;PANTHER:PTHR12489:SF14;Transmembrane_helices:TMhelix","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","CONTEXT":"CAGCACGAAGA","tumor_bam_uuid":"d24a6a7f-5a93-4c1b-bdfe-561d67f77de3","normal_bam_uuid":"89db580c-6dbe-4e42-8360-df6e84c7d134","case_id":"4b22ad71-c585-4077-ad3c-c6e026d0c7fa","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"30","Hugo_Symbol":"DRD5","Entrez_Gene_Id":1816,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr4","Start_Position":9782533,"End_Position":9782533,"Strand":"+","Variant_Classification":"Silent","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-64-1679-01A-21D-2063-08","Matched_Norm_Sample_Barcode":"TCGA-64-1679-10A-01D-2063-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"529d953a-880b-4dd4-a6aa-c09c8c89d980","Matched_Norm_Sample_UUID":"510b548e-4350-45c8-889d-8930c2f20f9c","HGVSc":"c.504C>A","HGVSp":"p.Ser168=","HGVSp_Short":"p.S168=","Transcript_ID":"ENST00000304374","Exon_Number":"1/1","t_depth":44,"t_ref_count":40,"t_alt_count":4,"n_depth":35,"all_effects":"DRD5,synonymous_variant,p.S168=,ENST00000304374,NM_000798.5,c.504C>A,LOW,YES,,,1;SLC2A9,intron_variant,,ENST00000503803,,n.386-2468G>T,MODIFIER,,,,-1;SLC2A9,intron_variant,,ENST00000508585,,n.182-11164G>T,MODIFIER,,,,-1","Allele":"A","Gene":"ENSG00000169676","Feature":"ENST00000304374","Feature_type":"Transcript","One_Consequence":"synonymous_variant","Consequence":"synonymous_variant","cDNA_position":"900/2376","CDS_position":"504/1434","Protein_position":"168/477","Amino_acids":"S","Codons":"tcC/tcA","Existing_variation":"COSV58579589","TRANSCRIPT_STRAND":1,"SYMBOL":"DRD5","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:3026","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS3405.1","ENSP":"ENSP00000306129","SWISSPROT":"P21918.210","UNIPARC":"UPI000004E905","RefSeq":"NM_000798.5","MANE":"NM_000798.5","APPRIS":"P1","EXON":"1/1","DOMAINS":"Transmembrane_helices:TMhelix;CDD:cd15319;Gene3D:1.20.1070.10;Pfam:PF00001;SMART:SM01381;Superfamily:SSF81321;PROSITE_profiles:PS50262;PANTHER:PTHR24248;PANTHER:PTHR24248:SF136;Prints:PR00237","SOMATIC":"1","IMPACT":"LOW","PICK":1,"VARIANT_CLASS":"SNV","PHENO":"1","GENE_PHENO":"1","CONTEXT":"TTGTCCATCCT","tumor_bam_uuid":"e84ea93a-079b-47a6-95f7-e533bcf9cd35","normal_bam_uuid":"a479eb9f-9405-43ee-8e98-fae7dbab5b4e","case_id":"81a0b2ff-a3d3-41bb-9ce6-765e6ae894af","COSMIC":"COSM6168216","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2"}
{"X1":"502","Hugo_Symbol":"CHRNB2","Entrez_Gene_Id":1141,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr1","Start_Position":154571580,"End_Position":154571580,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"A","Tumor_Seq_Allele1":"A","Tumor_Seq_Allele2":"T","Tumor_Sample_Barcode":"TCGA-95-7039-01A-11D-1945-08","Matched_Norm_Sample_Barcode":"TCGA-95-7039-10A-01D-1946-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"2d834605-102b-4b3a-a2fa-b26525c77acf","Matched_Norm_Sample_UUID":"fd2074ee-309f-48f9-a122-92a5bb8ee1f2","HGVSc":"c.757A>T","HGVSp":"p.Ile253Phe","HGVSp_Short":"p.I253F","Transcript_ID":"ENST00000368476","Exon_Number":"5/6","t_depth":156,"t_ref_count":74,"t_alt_count":82,"n_depth":96,"all_effects":"CHRNB2,missense_variant,p.I253F,ENST00000368476,NM_000748.3,c.757A>T,MODERATE,,deleterious(0),possibly_damaging(0.768),1;CHRNB2,missense_variant,p.I255F,ENST00000637900,,c.763A>T,MODERATE,YES,deleterious(0),possibly_damaging(0.583),1;CHRNB2,missense_variant,p.I253F,ENST00000636034,,c.757A>T,MODERATE,,deleterious(0),possibly_damaging(0.743),1;CHRNB2,downstream_gene_variant,,ENST00000636695,,,MODIFIER,,,,1;AL592078.2,upstream_gene_variant,,ENST00000659429,,,MODIFIER,,,,-1;AL592078.2,upstream_gene_variant,,ENST00000664303,,,MODIFIER,YES,,,-1;AL592078.2,upstream_gene_variant,,ENST00000666466,,,MODIFIER,,,,-1","Allele":"T","Gene":"ENSG00000160716","Feature":"ENST00000368476","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"1024/5857","CDS_position":"757/1509","Protein_position":"253/502","Amino_acids":"I/F","Codons":"Atc/Ttc","Existing_variation":"COSV63809644","TRANSCRIPT_STRAND":1,"SYMBOL":"CHRNB2","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:1962","BIOTYPE":"protein_coding","CCDS":"CCDS1070.1","ENSP":"ENSP00000357461","SWISSPROT":"P17787.206","TREMBL":"Q5SXY3.139","UNIPARC":"UPI000012526E","RefSeq":"NM_000748.3","MANE":"NM_000748.3","APPRIS":"P4","SIFT":"deleterious(0)","PolyPhen":"possibly_damaging(0.768)","EXON":"5/6","DOMAINS":"Gene3D:1.20.58.390;PDB-ENSP_mappings:2k58.B;PDB-ENSP_mappings:2ksr.A;PDB-ENSP_mappings:2lm2.A;PDB-ENSP_mappings:5kxi.B;PDB-ENSP_mappings:5kxi.C;PDB-ENSP_mappings:5kxi.E;PDB-ENSP_mappings:6cnj.B;PDB-ENSP_mappings:6cnj.C;PDB-ENSP_mappings:6cnj.E;PDB-ENSP_mappings:6cnk.C;PDB-ENSP_mappings:6cnk.E;PDB-ENSP_mappings:6ur8.B;PDB-ENSP_mappings:6ur8.C;PDB-ENSP_mappings:6ur8.E;PDB-ENSP_mappings:6usf.B;PDB-ENSP_mappings:6usf.C;PDB-ENSP_mappings:6usf.E;Pfam:PF02932;PANTHER:PTHR18945;PANTHER:PTHR18945:SF80;Superfamily:SSF90112;TIGRFAM:TIGR00860;Transmembrane_helices:TMhelix;CDD:cd19064","SOMATIC":"1","IMPACT":"MODERATE","VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","GENE_PHENO":"1","CONTEXT":"TAGCCATCCTT","tumor_bam_uuid":"07778240-7ff7-442d-bda7-41cd125e566f","normal_bam_uuid":"476724d7-6775-4121-bc23-5740ad8c77b6","case_id":"ae702159-5b6a-41dd-868c-7540f9e1131c","COSMIC":"COSM6121525","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"581","Hugo_Symbol":"PSENEN","Entrez_Gene_Id":55851,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr19","Start_Position":35746484,"End_Position":35746484,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"G","Tumor_Sample_Barcode":"TCGA-93-7347-01A-11D-2184-08","Matched_Norm_Sample_Barcode":"TCGA-93-7347-10A-01D-2184-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"98ed5f8c-bc0b-47ac-aee7-456fda144cb2","Matched_Norm_Sample_UUID":"4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713","HGVSc":"c.127C>G","HGVSp":"p.Leu43Val","HGVSp_Short":"p.L43V","Transcript_ID":"ENST00000222266","Exon_Number":"3/4","t_depth":176,"t_ref_count":156,"t_alt_count":19,"n_depth":201,"all_effects":"PSENEN,missense_variant,p.L43V,ENST00000587708,NM_172341.4&NM_001281532.3,c.127C>G,MODERATE,YES,tolerated(0.5),benign(0.007),1;PSENEN,missense_variant,p.L43V,ENST00000591949,,c.127C>G,MODERATE,,tolerated_low_confidence(0.28),benign(0.108),1;PSENEN,missense_variant,p.L43V,ENST00000222266,,c.127C>G,MODERATE,,tolerated(0.5),benign(0.007),1;IGFLR1,upstream_gene_variant,,ENST00000246532,NM_024660.4,,MODIFIER,YES,,,-1;U2AF1L4,upstream_gene_variant,,ENST00000292879,NM_001369824.2&NM_144987.4,,MODIFIER,,,,-1;LIN37,upstream_gene_variant,,ENST00000301159,NM_019104.3&NM_001369780.1,,MODIFIER,YES,,,1;U2AF1L4,upstream_gene_variant,,ENST00000378975,NM_001040425.3,,MODIFIER,,,,-1;U2AF1L4,upstream_gene_variant,,ENST00000412391,,,MODIFIER,YES,,,-1;IGFLR1,upstream_gene_variant,,ENST00000586140,,,MODIFIER,,,,-1;LIN37,upstream_gene_variant,,ENST00000587751,,,MODIFIER,,,,1;U2AF1L4,upstream_gene_variant,,ENST00000587886,,,MODIFIER,,,,-1;IGFLR1,upstream_gene_variant,,ENST00000588992,NM_001346003.2,,MODIFIER,,,,-1;IGFLR1,upstream_gene_variant,,ENST00000592537,,,MODIFIER,,,,-1;U2AF1L4,upstream_gene_variant,,ENST00000588100,,,MODIFIER,,,,-1;LIN37,upstream_gene_variant,,ENST00000591076,,,MODIFIER,,,,1;AD000671.1,missense_variant,p.L43V,ENST00000591613,,c.127C>G,MODERATE,YES,tolerated(0.5),benign(0.007),1;U2AF1L4,upstream_gene_variant,,ENST00000585554,,,MODIFIER,,,,-1;U2AF1L4,upstream_gene_variant,,ENST00000585771,,,MODIFIER,,,,-1;U2AF1L4,upstream_gene_variant,,ENST00000586476,,,MODIFIER,,,,-1;LIN37,upstream_gene_variant,,ENST00000587108,,,MODIFIER,,,,1;U2AF1L4,upstream_gene_variant,,ENST00000587987,,,MODIFIER,,,,-1;IGFLR1,upstream_gene_variant,,ENST00000588018,,,MODIFIER,,,,-1;U2AF1L4,upstream_gene_variant,,ENST00000588892,,,MODIFIER,,,,-1;U2AF1L4,upstream_gene_variant,,ENST00000588980,,,MODIFIER,,,,-1;IGFLR1,upstream_gene_variant,,ENST00000589175,,,MODIFIER,,,,-1;U2AF1L4,upstream_gene_variant,,ENST00000589429,,,MODIFIER,,,,-1;AD000671.2,upstream_gene_variant,,ENST00000589807,,,MODIFIER,YES,,,-1;U2AF1L4,upstream_gene_variant,,ENST00000590135,,,MODIFIER,,,,-1;U2AF1L4,upstream_gene_variant,,ENST00000590650,,,MODIFIER,,,,-1;LIN37,upstream_gene_variant,,ENST00000590706,,,MODIFIER,,,,1;U2AF1L4,upstream_gene_variant,,ENST00000591057,,,MODIFIER,,,,-1;U2AF1L4,upstream_gene_variant,,ENST00000591084,,,MODIFIER,,,,-1;U2AF1L4,upstream_gene_variant,,ENST00000591855,,,MODIFIER,,,,-1;LIN37,upstream_gene_variant,,ENST00000592871,,,MODIFIER,,,,1;U2AF1L4,upstream_gene_variant,,ENST00000592913,,,MODIFIER,,,,-1;U2AF1L4,upstream_gene_variant,,ENST00000594792,,,MODIFIER,,,,-1;LIN37,upstream_gene_variant,,ENST00000595455,,,MODIFIER,,,,1;U2AF1L4,upstream_gene_variant,,ENST00000600296,,,MODIFIER,,,,-1;U2AF1L4,upstream_gene_variant,,ENST00000601236,,,MODIFIER,,,,-1;AD000671.3,downstream_gene_variant,,ENST00000585365,,,MODIFIER,,,,-1;AD000671.3,downstream_gene_variant,,ENST00000591091,,,MODIFIER,YES,,,-1","Allele":"G","Gene":"ENSG00000205155","Feature":"ENST00000222266","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"267/603","CDS_position":"127/306","Protein_position":"43/101","Amino_acids":"L/V","Codons":"Ctt/Gtt","Existing_variation":"COSV53075341;COSV99495131","TRANSCRIPT_STRAND":1,"SYMBOL":"PSENEN","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:30100","BIOTYPE":"protein_coding","CCDS":"CCDS12474.1","ENSP":"ENSP00000222266","SWISSPROT":"Q9NZ42.163","UNIPARC":"UPI000006FFC1","APPRIS":"P1","SIFT":"tolerated(0.5)","PolyPhen":"benign(0.007)","EXON":"3/4","DOMAINS":"PDB-ENSP_mappings:5a63.D;PDB-ENSP_mappings:5fn2.D;PDB-ENSP_mappings:5fn3.D;PDB-ENSP_mappings:5fn4.D;PDB-ENSP_mappings:5fn5.D;PDB-ENSP_mappings:6idf.D;PDB-ENSP_mappings:6iyc.D;PANTHER:PTHR16318;Pfam:PF10251","SOMATIC":"1;1","IMPACT":"MODERATE","VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1;1","GENE_PHENO":"1","CONTEXT":"CCTTCCTTGTC","tumor_bam_uuid":"9449fbe9-53a2-4733-becd-e1200c15d534","normal_bam_uuid":"67ea4aa6-03ac-456d-b5c3-3ce2033f331b","case_id":"ef03654a-dcf1-41ff-a67e-4f3fbf9ba807","COSMIC":"COSM6150460","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"202","Hugo_Symbol":"OR4L1","Entrez_Gene_Id":122742,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr14","Start_Position":20060507,"End_Position":20060507,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-78-7155-01A-11D-2036-08","Matched_Norm_Sample_Barcode":"TCGA-78-7155-10A-01D-2036-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"cf7882fa-4343-4c32-8940-2fc85cfb4c6e","Matched_Norm_Sample_UUID":"14233f2d-dd7b-4330-a079-0f7158397e28","HGVSc":"c.463C>A","HGVSp":"p.His155Asn","HGVSp_Short":"p.H155N","Transcript_ID":"ENST00000315683","Exon_Number":"1/1","t_depth":98,"t_ref_count":14,"t_alt_count":84,"n_depth":125,"all_effects":"OR4L1,missense_variant,p.H155N,ENST00000315683,NM_001004717.1,c.463C>A,MODERATE,YES,deleterious(0),probably_damaging(0.997),1","Allele":"A","Gene":"ENSG00000176246","Feature":"ENST00000315683","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"463/939","CDS_position":"463/939","Protein_position":"155/312","Amino_acids":"H/N","Codons":"Cac/Aac","Existing_variation":"COSV59849877","TRANSCRIPT_STRAND":1,"SYMBOL":"OR4L1","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:15356","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS32029.1","ENSP":"ENSP00000319217","SWISSPROT":"Q8NH43.134","UNIPARC":"UPI0000041CE3","RefSeq":"NM_001004717.1","MANE":"NM_001004717.1","APPRIS":"P1","SIFT":"deleterious(0)","PolyPhen":"probably_damaging(0.997)","EXON":"1/1","DOMAINS":"Transmembrane_helices:TMhelix;PROSITE_profiles:PS50262;CDD:cd15226;PANTHER:PTHR26451;PANTHER:PTHR26451:SF221;Gene3D:1.20.1070.10;Pfam:PF13853;Superfamily:SSF81321","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","PHENO":"1","CONTEXT":"TTTTACACTCC","tumor_bam_uuid":"9b30db3c-976e-4bc8-9de8-6f786f1510ee","normal_bam_uuid":"56d63102-ab57-41ae-9908-d2c93e407d4d","case_id":"fc79086c-af9a-4c27-b074-f7050b6f3381","COSMIC":"COSM6140094","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"475","Hugo_Symbol":"ZFPM2","Entrez_Gene_Id":23414,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr8","Start_Position":105801928,"End_Position":105801928,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"G","Tumor_Sample_Barcode":"TCGA-05-4427-01A-21D-1855-08","Matched_Norm_Sample_Barcode":"TCGA-05-4427-10A-01D-1855-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"736e0134-8b1a-4ff1-9106-ca09c9812ef6","Matched_Norm_Sample_UUID":"486af110-e61e-4e67-b5fa-f0eef31227cb","HGVSc":"c.1846C>G","HGVSp":"p.Pro616Ala","HGVSp_Short":"p.P616A","Transcript_ID":"ENST00000407775","Exon_Number":"8/8","t_depth":122,"t_ref_count":111,"t_alt_count":10,"n_depth":126,"all_effects":"ZFPM2,missense_variant,p.P616A,ENST00000407775,NM_012082.4&NM_001362836.2,c.1846C>G,MODERATE,YES,tolerated(0.4),benign(0.001),1;ZFPM2,missense_variant,p.P484A,ENST00000520492,NM_001362837.2,c.1450C>G,MODERATE,,tolerated(0.41),benign(0.001),1;ZFPM2,missense_variant,p.P484A,ENST00000517361,,c.1450C>G,MODERATE,,tolerated(0.41),benign(0.001),1;ZFPM2,non_coding_transcript_exon_variant,,ENST00000522296,,n.1640C>G,MODIFIER,,,,1;ZFPM2-AS1,intron_variant,,ENST00000520078,,n.149-3486G>C,MODIFIER,,,,-1;ZFPM2-AS1,intron_variant,,ENST00000509144,,n.140-3486G>C,MODIFIER,,,,-1;ZFPM2-AS1,intron_variant,,ENST00000518932,,n.66-3486G>C,MODIFIER,,,,-1;ZFPM2-AS1,intron_variant,,ENST00000520433,,n.212-3486G>C,MODIFIER,,,,-1;ZFPM2-AS1,intron_variant,,ENST00000520594,,n.155-3486G>C,MODIFIER,,,,-1;ZFPM2-AS1,intron_variant,,ENST00000521622,,n.279-3486G>C,MODIFIER,,,,-1;ZFPM2-AS1,intron_variant,,ENST00000524045,,n.154-3486G>C,MODIFIER,YES,,,-1;ZFPM2-AS1,intron_variant,,ENST00000659633,,n.69-3486G>C,MODIFIER,,,,-1;ZFPM2-AS1,upstream_gene_variant,,ENST00000647695,,,MODIFIER,,,,-1","Allele":"G","Gene":"ENSG00000169946","Feature":"ENST00000407775","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"2350/4961","CDS_position":"1846/3456","Protein_position":"616/1151","Amino_acids":"P/A","Codons":"Cct/Gct","Existing_variation":"COSV65874379;COSV65875412","TRANSCRIPT_STRAND":1,"SYMBOL":"ZFPM2","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:16700","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS47908.1","ENSP":"ENSP00000384179","SWISSPROT":"Q8WW38.152","UNIPARC":"UPI000057A0B4","UNIPROT_ISOFORM":"Q8WW38-1","RefSeq":"NM_012082.4;NM_001362836.2","MANE":"NM_012082.4","APPRIS":"P1","SIFT":"tolerated(0.4)","PolyPhen":"benign(0.001)","EXON":"8/8","DOMAINS":"PANTHER:PTHR12958:SF5;PANTHER:PTHR12958","SOMATIC":"1;1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1;1","GENE_PHENO":"1","CONTEXT":"CTGATCCTGAG","tumor_bam_uuid":"db10f9f9-4375-4197-a905-692f64066021","normal_bam_uuid":"b3aca9b1-aee3-4a6c-b1b5-3216a736f741","case_id":"78a24c56-576c-4245-bb42-6603b3d19897","COSMIC":"COSM6112024","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2"}
{"X1":"435","Hugo_Symbol":"CCDC34","Entrez_Gene_Id":91057,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr11","Start_Position":27357468,"End_Position":27357468,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"A","Tumor_Seq_Allele1":"A","Tumor_Seq_Allele2":"T","Tumor_Sample_Barcode":"TCGA-55-8514-01A-11D-2393-08","Matched_Norm_Sample_Barcode":"TCGA-55-8514-10A-01D-2393-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"43ad090d-2803-4ba4-91bc-b9955910331b","Matched_Norm_Sample_UUID":"eaab87cf-7618-4ba5-8734-c370651c4dad","HGVSc":"c.433T>A","HGVSp":"p.Trp145Arg","HGVSp_Short":"p.W145R","Transcript_ID":"ENST00000328697","Exon_Number":"2/6","t_depth":148,"t_ref_count":110,"t_alt_count":38,"n_depth":106,"all_effects":"CCDC34,missense_variant,p.W145R,ENST00000317945,NM_080654.2,c.433T>A,MODERATE,,deleterious(0.02),probably_damaging(0.999),-1;CCDC34,missense_variant,p.W145R,ENST00000328697,NM_030771.2,c.433T>A,MODERATE,YES,deleterious(0.04),probably_damaging(1),-1","Allele":"T","Gene":"ENSG00000109881","Feature":"ENST00000328697","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"454/1452","CDS_position":"433/1122","Protein_position":"145/373","Amino_acids":"W/R","Codons":"Tgg/Agg","Existing_variation":"COSV100156711;COSV100156749","TRANSCRIPT_STRAND":-1,"SYMBOL":"CCDC34","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:25079","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS31448.1","ENSP":"ENSP00000330240","SWISSPROT":"Q96HJ3.112","UNIPARC":"UPI000050C095","UNIPROT_ISOFORM":"Q96HJ3-1","RefSeq":"NM_030771.2","MANE":"NM_030771.2","APPRIS":"P1","SIFT":"deleterious(0.04)","PolyPhen":"probably_damaging(1)","EXON":"2/6","DOMAINS":"PANTHER:PTHR23247;Pfam:PF13904","SOMATIC":"1;1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1;1","CONTEXT":"CTCCCATGGTG","tumor_bam_uuid":"f7ad6841-5192-45ab-bcf7-49fcd7d58bdc","normal_bam_uuid":"b62630f5-8b39-4533-9400-2866f110c6ed","case_id":"6845099a-b2c9-48d8-b856-9903d39bb92e","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"215","Hugo_Symbol":"ATXN7L2","Entrez_Gene_Id":127002,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr1","Start_Position":109487805,"End_Position":109487805,"Strand":"+","Variant_Classification":"Splice_Site","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"A","dbSNP_RS":"rs1288347363","Tumor_Sample_Barcode":"TCGA-67-3771-01A-01W-0928-08","Matched_Norm_Sample_Barcode":"TCGA-67-3771-10A-01D-1040-01","Mutation_Status":"Somatic","Tumor_Sample_UUID":"b850bfc1-7926-4bee-a0c4-e6e964765a6b","Matched_Norm_Sample_UUID":"24f1a1ea-733d-45b3-a51b-073807143f78","HGVSc":"c.700+1G>A","HGVSp_Short":"p.X234_splice","Transcript_ID":"ENST00000369870","t_depth":24,"t_ref_count":17,"t_alt_count":7,"n_depth":101,"all_effects":"ATXN7L2,splice_donor_variant,p.X234_splice,ENST00000369870,NM_001350174.1&NM_001350175.1&NM_153340.5&NM_001350177.2,c.700+1G>A,HIGH,YES,,,1;ATXN7L2,upstream_gene_variant,,ENST00000459635,,,MODIFIER,,,,1;ATXN7L2,upstream_gene_variant,,ENST00000604728,,,MODIFIER,,,,1;ATXN7L2,splice_donor_variant,,ENST00000463678,,c.*662+1G>A,HIGH,,,,1;ATXN7L2,splice_donor_variant,,ENST00000497545,,n.1563+1G>A,HIGH,,,,1;ATXN7L2,upstream_gene_variant,,ENST00000369869,,,MODIFIER,,,,1","Allele":"A","Gene":"ENSG00000162650","Feature":"ENST00000369870","Feature_type":"Transcript","One_Consequence":"splice_donor_variant","Consequence":"splice_donor_variant","Existing_variation":"rs1288347363;COSV63992122","TRANSCRIPT_STRAND":1,"SYMBOL":"ATXN7L2","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:28713","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS30794.1","ENSP":"ENSP00000358886","SWISSPROT":"Q5T6C5.102","UNIPARC":"UPI0000470BE5","RefSeq":"NM_001350174.1;NM_001350175.1;NM_153340.5;NM_001350177.2","APPRIS":"P1","INTRON":"5/10","gnomAD_AF":"4.394e-06","gnomAD_AFR_AF":"0","gnomAD_AMR_AF":"0","gnomAD_ASJ_AF":"0","gnomAD_EAS_AF":"5.796e-05","gnomAD_FIN_AF":"0","gnomAD_NFE_AF":"0","gnomAD_OTH_AF":"0","gnomAD_SAS_AF":"0","MAX_AF":"5.796e-05","MAX_AF_POPS":"gnomAD_EAS","SOMATIC":"0;1","IMPACT":"HIGH","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"0;1","CONTEXT":"GGCTCGTGAGT","tumor_bam_uuid":"02908bcd-ff6b-4611-a8b7-b1f7c18073a1","normal_bam_uuid":"930b209a-4ff6-4e76-a78d-fcba988e7330","case_id":"0df573ee-28f0-4244-b434-09e6ca59fbf0","GDC_FILTER":"NonExonic","COSMIC":"COSM527221","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"328","Hugo_Symbol":"VPS13C","Entrez_Gene_Id":54832,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr15","Start_Position":62041358,"End_Position":62041358,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"G","Tumor_Sample_Barcode":"TCGA-44-6775-01A-11D-1855-08","Matched_Norm_Sample_Barcode":"TCGA-44-6775-10A-01D-1855-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"7a70a44f-84f3-440a-b898-dc3a0eff748e","Matched_Norm_Sample_UUID":"a614b2ce-3d15-4aa0-8403-1427e7ccf847","HGVSc":"c.153G>C","HGVSp":"p.Leu51Phe","HGVSp_Short":"p.L51F","Transcript_ID":"ENST00000644861","Exon_Number":"3/85","t_depth":71,"t_ref_count":53,"t_alt_count":18,"n_depth":81,"all_effects":"VPS13C,missense_variant,p.L51F,ENST00000645819,NM_001018088.2,c.153G>C,MODERATE,,tolerated(0.11),benign(0.311),-1;VPS13C,missense_variant,p.L51F,ENST00000644861,NM_020821.3,c.153G>C,MODERATE,YES,tolerated(0.11),benign(0.439),-1;VPS13C,missense_variant,p.L51F,ENST00000249837,NM_017684.5,c.153G>C,MODERATE,,tolerated(0.11),possibly_damaging(0.479),-1;VPS13C,missense_variant,p.L51F,ENST00000395898,NM_018080.3,c.153G>C,MODERATE,,tolerated(0.11),benign(0.381),-1","Allele":"G","Gene":"ENSG00000129003","Feature":"ENST00000644861","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"226/13403","CDS_position":"153/11262","Protein_position":"51/3753","Amino_acids":"L/F","Codons":"ttG/ttC","Existing_variation":"COSV51425770","TRANSCRIPT_STRAND":-1,"SYMBOL":"VPS13C","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:23594","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS32257.1","ENSP":"ENSP00000493560","SWISSPROT":"Q709C8.130","UNIPARC":"UPI000023B7D3","UNIPROT_ISOFORM":"Q709C8-1","RefSeq":"NM_020821.3","MANE":"NM_020821.3","APPRIS":"A2","SIFT":"tolerated(0.11)","PolyPhen":"benign(0.439)","EXON":"3/85","DOMAINS":"Pfam:PF12624;PANTHER:PTHR16166;PANTHER:PTHR16166:SF69","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","PHENO":"1","GENE_PHENO":"1","CONTEXT":"ACATCCAATTC","tumor_bam_uuid":"9ff74f6c-9ff4-40df-9de9-0486c92a6a45","normal_bam_uuid":"6653374b-e8bb-4844-b53f-aaae62713ff5","case_id":"3c4ff061-d214-4d1c-8d2e-3034f207c252","COSMIC":"COSM6077558;COSM6077559","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"560","Hugo_Symbol":"SLC39A12","Entrez_Gene_Id":221074,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr10","Start_Position":17987600,"End_Position":17987600,"Strand":"+","Variant_Classification":"Silent","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-55-A493-01A-11D-A24D-08","Matched_Norm_Sample_Barcode":"TCGA-55-A493-10A-01D-A24F-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"45aab7cc-5e3c-4654-be1b-f37470879fd9","Matched_Norm_Sample_UUID":"dd15313f-59e4-4d25-953c-2c2dd1b1937e","HGVSc":"c.1218C>A","HGVSp":"p.Gly406=","HGVSp_Short":"p.G406=","Transcript_ID":"ENST00000377369","Exon_Number":"7/13","t_depth":99,"t_ref_count":88,"t_alt_count":10,"n_depth":135,"all_effects":"SLC39A12,synonymous_variant,p.G406=,ENST00000377371,NM_001282733.1,c.1218C>A,LOW,,,,1;SLC39A12,synonymous_variant,p.G406=,ENST00000377369,NM_001145195.2,c.1218C>A,LOW,YES,,,1;SLC39A12,synonymous_variant,p.G406=,ENST00000377374,NM_152725.3,c.1218C>A,LOW,,,,1;SLC39A12,synonymous_variant,p.G272=,ENST00000539911,NM_001282734.1,c.816C>A,LOW,,,,1","Allele":"A","Gene":"ENSG00000148482","Feature":"ENST00000377369","Feature_type":"Transcript","One_Consequence":"synonymous_variant","Consequence":"synonymous_variant","cDNA_position":"1412/2722","CDS_position":"1218/2076","Protein_position":"406/691","Amino_acids":"G","Codons":"ggC/ggA","Existing_variation":"COSV101069913","TRANSCRIPT_STRAND":1,"SYMBOL":"SLC39A12","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:20860","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS44362.1","ENSP":"ENSP00000366586","SWISSPROT":"Q504Y0.110","UNIPARC":"UPI00004044FC","UNIPROT_ISOFORM":"Q504Y0-1","RefSeq":"NM_001145195.2","MANE":"NM_001145195.2","APPRIS":"P4","EXON":"7/13","DOMAINS":"Pfam:PF02535;PANTHER:PTHR12191;PANTHER:PTHR12191:SF4;Transmembrane_helices:TMhelix","SOMATIC":"1","IMPACT":"LOW","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","CONTEXT":"GTGGGCTTGGC","tumor_bam_uuid":"58851a44-8554-47f6-93f8-2002c1bdc3ff","normal_bam_uuid":"4241b93e-732c-4c06-90ca-8c1a3ecdb6ed","case_id":"e43a2b72-35c6-4466-9007-ce96caf77ea8","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"458","Hugo_Symbol":"OR2M3","Entrez_Gene_Id":127062,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr1","Start_Position":248203739,"End_Position":248203739,"Strand":"+","Variant_Classification":"Silent","Variant_Type":"SNP","Reference_Allele":"T","Tumor_Seq_Allele1":"T","Tumor_Seq_Allele2":"A","dbSNP_RS":"novel","Tumor_Sample_Barcode":"TCGA-93-A4JQ-01A-11D-A24P-08","Matched_Norm_Sample_Barcode":"TCGA-93-A4JQ-10A-01D-A24P-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"2b0151f6-1b38-484f-a4fc-6543e8c355f2","Matched_Norm_Sample_UUID":"ec83babf-e878-4b15-b502-68b719a78795","HGVSc":"c.672T>A","HGVSp":"p.Ala224=","HGVSp_Short":"p.A224=","Transcript_ID":"ENST00000456743","Exon_Number":"1/1","t_depth":342,"t_ref_count":330,"t_alt_count":12,"n_depth":418,"all_effects":"OR2M3,synonymous_variant,p.A224=,ENST00000641626,,c.672T>A,LOW,YES,,,1;OR2M3,synonymous_variant,p.A224=,ENST00000456743,NM_001004689.1,c.672T>A,LOW,,,,1","Allele":"A","Gene":"ENSG00000228198","Feature":"ENST00000456743","Feature_type":"Transcript","One_Consequence":"synonymous_variant","Consequence":"synonymous_variant","cDNA_position":"710/1061","CDS_position":"672/939","Protein_position":"224/312","Amino_acids":"A","Codons":"gcT/gcA","TRANSCRIPT_STRAND":1,"SYMBOL":"OR2M3","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:8269","BIOTYPE":"protein_coding","CCDS":"CCDS31107.1","ENSP":"ENSP00000389625","SWISSPROT":"Q8NG83.136","TREMBL":"A0A126GV67.28","UNIPARC":"UPI000004B234","RefSeq":"NM_001004689.1","APPRIS":"P1","EXON":"1/1","DOMAINS":"Gene3D:1.20.1070.10;Pfam:PF13853;PROSITE_profiles:PS50262;PANTHER:PTHR26453;PANTHER:PTHR26453:SF639;SMART:SM01381;Superfamily:SSF81321;CDD:cd15421","IMPACT":"LOW","VARIANT_CLASS":"SNV","CONTEXT":"CTGGCTGTCAT","tumor_bam_uuid":"f470511a-2256-4594-85e2-981f80057cdb","normal_bam_uuid":"c035cbb2-aaad-44f2-9780-571a43a46bc6","case_id":"7093024b-cf56-4783-b973-b72573ed7f2b","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2"}
{"X1":"275","Hugo_Symbol":"CD300LD","Entrez_Gene_Id":100131439,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr17","Start_Position":74588701,"End_Position":74588701,"Strand":"+","Variant_Classification":"Silent","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"A","dbSNP_RS":"rs1568023862","Tumor_Sample_Barcode":"TCGA-NJ-A4YI-01A-11D-A25L-08","Matched_Norm_Sample_Barcode":"TCGA-NJ-A4YI-10A-01D-A25L-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"ec03a498-ed86-4fd5-85b5-0db69df0e0b5","Matched_Norm_Sample_UUID":"9dd6f104-86f9-4e33-bef4-d578f541c9ea","HGVSc":"c.189C>T","HGVSp":"p.Ile63=","HGVSp_Short":"p.I63=","Transcript_ID":"ENST00000375352","Exon_Number":"2/4","t_depth":288,"t_ref_count":163,"t_alt_count":125,"n_depth":215,"all_effects":"CD300LD,synonymous_variant,p.I63=,ENST00000375352,NM_001115152.2,c.189C>T,LOW,YES,,,-1;C17orf77,intron_variant,,ENST00000392620,NM_152460.2,n.73-1818G>A,MODIFIER,YES,,,1;C17orf77,intron_variant,,ENST00000524389,NM_001302809.1,n.237-1818G>A,MODIFIER,,,,1;C17orf77,upstream_gene_variant,,ENST00000328023,,,MODIFIER,,,,1","Allele":"A","Gene":"ENSG00000204345","Feature":"ENST00000375352","Feature_type":"Transcript","One_Consequence":"synonymous_variant","Consequence":"synonymous_variant","cDNA_position":"270/1303","CDS_position":"189/585","Protein_position":"63/194","Amino_acids":"I","Codons":"atC/atT","Existing_variation":"rs1568023862;COSV100032614","TRANSCRIPT_STRAND":-1,"SYMBOL":"CD300LD","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:16848","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS42379.1","ENSP":"ENSP00000364501","SWISSPROT":"Q6UXZ3.123","UNIPARC":"UPI00001D6916","RefSeq":"NM_001115152.2","MANE":"NM_001115152.2","APPRIS":"P1","EXON":"2/4","DOMAINS":"Gene3D:2.60.40.10;Pfam:PF07686;PROSITE_profiles:PS50835;PANTHER:PTHR11860;PANTHER:PTHR11860:SF53;SMART:SM00409;Superfamily:SSF48726;CDD:cd05716","gnomAD_non_cancer_AF":"6.76004992783419e-06","gnomAD_non_cancer_AFR_AF":"0","gnomAD_non_cancer_AMI_AF":"0","gnomAD_non_cancer_AMR_AF":"0","gnomAD_non_cancer_ASJ_AF":"0","gnomAD_non_cancer_EAS_AF":"0","gnomAD_non_cancer_FIN_AF":"0","gnomAD_non_cancer_MID_AF":"0","gnomAD_non_cancer_NFE_AF":"1.54301997099537e-05","gnomAD_non_cancer_OTH_AF":"0","gnomAD_non_cancer_SAS_AF":"0","SOMATIC":"0;1","IMPACT":"LOW","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"0;1","CONTEXT":"ACAAGGATGTT","tumor_bam_uuid":"0ee77f29-1caf-4583-a8d4-d62672e8b803","normal_bam_uuid":"266d4e02-fb33-44ed-9366-603c0911c8e0","case_id":"2c03141e-a0bd-4e8d-91e4-9744d139ccce","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"406","Hugo_Symbol":"ACOT7","Entrez_Gene_Id":11332,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr1","Start_Position":6339516,"End_Position":6339516,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"A","dbSNP_RS":"rs989978180","Tumor_Sample_Barcode":"TCGA-62-8395-01A-11D-2323-08","Matched_Norm_Sample_Barcode":"TCGA-62-8395-10A-01D-2323-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"ca997f5d-0e39-40d9-8aae-c06dab64b7c8","Matched_Norm_Sample_UUID":"dac8a0b8-e83f-4296-b141-63f45f4291f2","HGVSc":"c.365C>T","HGVSp":"p.Ala122Val","HGVSp_Short":"p.A122V","Transcript_ID":"ENST00000377855","Exon_Number":"3/9","t_depth":83,"t_ref_count":76,"t_alt_count":6,"n_depth":90,"all_effects":"ACOT7,missense_variant,p.A71V,ENST00000377842,NM_181866.3,c.212C>T,MODERATE,,deleterious(0.02),possibly_damaging(0.479),-1;ACOT7,missense_variant,p.A112V,ENST00000361521,NM_007274.4,c.335C>T,MODERATE,,tolerated(0.06),benign(0.044),-1;ACOT7,missense_variant,p.A112V,ENST00000545482,,c.335C>T,MODERATE,,tolerated(0.06),benign(0.044),-1;ACOT7,missense_variant,p.A122V,ENST00000377855,NM_181864.3,c.365C>T,MODERATE,YES,tolerated(0.05),possibly_damaging(0.59),-1;ACOT7,missense_variant,p.A92V,ENST00000377845,NM_181865.3,c.275C>T,MODERATE,,tolerated(0.06),benign(0.206),-1;ACOT7,missense_variant,p.A80V,ENST00000608083,,c.239C>T,MODERATE,,tolerated(0.07),benign(0.017),-1;ACOT7,missense_variant,p.A63V,ENST00000473466,,c.188C>T,MODERATE,,tolerated(0.07),possibly_damaging(0.59),-1;ACOT7,missense_variant,p.A80V,ENST00000418124,,c.239C>T,MODERATE,,tolerated(0.06),benign(0.023),-1;ACOT7,missense_variant,p.A80V,ENST00000377860,,c.239C>T,MODERATE,,tolerated(0.1),possibly_damaging(0.724),-1","Allele":"A","Gene":"ENSG00000097021","Feature":"ENST00000377855","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"512/1614","CDS_position":"365/1143","Protein_position":"122/380","Amino_acids":"A/V","Codons":"gCg/gTg","Existing_variation":"rs989978180;COSV64115612","TRANSCRIPT_STRAND":-1,"SYMBOL":"ACOT7","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:24157","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS65.1","ENSP":"ENSP00000367086","SWISSPROT":"O00154.185","UNIPARC":"UPI000012674F","UNIPROT_ISOFORM":"O00154-1","RefSeq":"NM_181864.3","APPRIS":"A2","SIFT":"tolerated(0.05)","PolyPhen":"possibly_damaging(0.59)","EXON":"3/9","DOMAINS":"PROSITE_profiles:PS51770;CDD:cd03442;PANTHER:PTHR11049:SF27;PANTHER:PTHR11049;Pfam:PF03061;Gene3D:3.10.129.10;Superfamily:SSF54637","gnomAD_non_cancer_AF":"1.35214004330919e-05","gnomAD_non_cancer_AFR_AF":"0","gnomAD_non_cancer_AMI_AF":"0","gnomAD_non_cancer_AMR_AF":"0","gnomAD_non_cancer_ASJ_AF":"0","gnomAD_non_cancer_EAS_AF":"0","gnomAD_non_cancer_FIN_AF":"0","gnomAD_non_cancer_MID_AF":"0","gnomAD_non_cancer_NFE_AF":"3.08603994199075e-05","gnomAD_non_cancer_OTH_AF":"0","gnomAD_non_cancer_SAS_AF":"0","gnomAD_non_cancer_MAX_AF_adj":"3.08603994199075e-05","gnomAD_non_cancer_MAX_AF_POPS_adj":"nfe","SOMATIC":"0;1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"0;1","CONTEXT":"CATGCGCCACC","tumor_bam_uuid":"8903a171-76ab-49be-b245-3273b247af48","normal_bam_uuid":"0c29d2b0-4d98-4c75-a1e9-bf04ac1df8af","case_id":"5c266025-e590-457c-af86-4c2dc9797267","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2"}
{"X1":"337","Hugo_Symbol":"AL592490.1","Entrez_Gene_Id":0,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr13","Start_Position":61412076,"End_Position":61412076,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"T","dbSNP_RS":"rs147088518","Tumor_Sample_Barcode":"TCGA-55-8506-01A-11D-2393-08","Matched_Norm_Sample_Barcode":"TCGA-55-8506-10A-01D-2393-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"30c689e3-563d-41f1-b08e-9322653e2eb2","Matched_Norm_Sample_UUID":"1ad5dca0-8616-4d2d-82b7-05098d7844d9","HGVSc":"c.2023G>A","HGVSp":"p.Ala675Thr","HGVSp_Short":"p.A675T","Transcript_ID":"ENST00000409186","Exon_Number":"5/5","t_depth":91,"t_ref_count":69,"t_alt_count":22,"n_depth":140,"all_effects":"AL592490.1,missense_variant,p.A675T,ENST00000409186,,c.2023G>A,MODERATE,YES,tolerated(1),possibly_damaging(0.866),-1;PCDH20,missense_variant,p.A675T,ENST00000409204,NM_022843.3,c.2023G>A,MODERATE,YES,tolerated(1),possibly_damaging(0.866),-1","Allele":"T","Gene":"ENSG00000197991","Feature":"ENST00000409186","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"4129/6347","CDS_position":"2023/2856","Protein_position":"675/951","Amino_acids":"A/T","Codons":"Gcc/Acc","Existing_variation":"rs147088518","TRANSCRIPT_STRAND":-1,"SYMBOL":"AL592490.1","SYMBOL_SOURCE":"Clone_based_ensembl_gene","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS9442.2","ENSP":"ENSP00000386653","UNIPARC":"UPI000007371F","APPRIS":"P1","SIFT":"tolerated(1)","PolyPhen":"possibly_damaging(0.866)","EXON":"5/5","DOMAINS":"Gene3D:2.60.40.60;Pfam:PF00028;PROSITE_profiles:PS50268;PANTHER:PTHR24028;PANTHER:PTHR24028:SF260;SMART:SM00112;Superfamily:SSF49313;CDD:cd11304","ESP_AA_AF":"0.000227","ESP_EA_AF":"0","gnomAD_AF":"7.96e-06","gnomAD_AFR_AF":"6.154e-05","gnomAD_AMR_AF":"0","gnomAD_ASJ_AF":"0","gnomAD_EAS_AF":"0","gnomAD_FIN_AF":"0","gnomAD_NFE_AF":"0","gnomAD_OTH_AF":"0","gnomAD_SAS_AF":"3.266e-05","MAX_AF":"0.000227","MAX_AF_POPS":"AA","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"CONTEXT":"GAGGGCGACCC","tumor_bam_uuid":"86d1af8e-0d02-4bab-8fe3-9242e4dbe387","normal_bam_uuid":"aad7c7fc-109b-48b4-9744-719cc29d528f","case_id":"3ed05070-6633-4de5-9f72-090f93aa2e4d","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"494","Hugo_Symbol":"LRRC66","Entrez_Gene_Id":339977,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr4","Start_Position":51995447,"End_Position":51995447,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"G","Tumor_Sample_Barcode":"TCGA-17-Z021-01A-01W-0746-08","Matched_Norm_Sample_Barcode":"TCGA-17-Z021-11A-01W-0746-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"9394b536-cd08-414b-86a3-c6491f967709","Matched_Norm_Sample_UUID":"a1ff951a-725c-47d8-b214-82737a73f2dd","HGVSc":"c.1575G>C","HGVSp":"p.Gln525His","HGVSp_Short":"p.Q525H","Transcript_ID":"ENST00000343457","Exon_Number":"4/4","t_depth":160,"t_ref_count":145,"t_alt_count":15,"n_depth":280,"all_effects":"LRRC66,missense_variant,p.Q525H,ENST00000343457,NM_001024611.3,c.1575G>C,MODERATE,YES,tolerated(0.15),possibly_damaging(0.737),-1","Allele":"G","Gene":"ENSG00000188993","Feature":"ENST00000343457","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"1582/3327","CDS_position":"1575/2643","Protein_position":"525/880","Amino_acids":"Q/H","Codons":"caG/caC","Existing_variation":"COSV58634093","TRANSCRIPT_STRAND":-1,"SYMBOL":"LRRC66","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:34299","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS43229.1","ENSP":"ENSP00000341944","SWISSPROT":"Q68CR7.121","UNIPARC":"UPI0000425C5B","RefSeq":"NM_001024611.3","APPRIS":"P1","SIFT":"tolerated(0.15)","PolyPhen":"possibly_damaging(0.737)","EXON":"4/4","DOMAINS":"PANTHER:PTHR24366;PANTHER:PTHR24366:SF118","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","CONTEXT":"TGGTCCTGCGC","tumor_bam_uuid":"956a7bca-cbe3-4ac9-81a9-0096e5da2eb5","normal_bam_uuid":"d6de1d61-ee0e-4929-b998-cefd01a4f8cc","case_id":"a56d2b48-375d-4193-91a9-f589c39523fb","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2"}
{"X1":"179","Hugo_Symbol":"COL24A1","Entrez_Gene_Id":255631,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr1","Start_Position":85841222,"End_Position":85841222,"Strand":"+","Variant_Classification":"Splice_Region","Variant_Type":"SNP","Reference_Allele":"T","Tumor_Seq_Allele1":"T","Tumor_Seq_Allele2":"A","dbSNP_RS":"rs752620036","Tumor_Sample_Barcode":"TCGA-86-8073-01A-11D-2238-08","Matched_Norm_Sample_Barcode":"TCGA-86-8073-10A-01D-2238-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"b7268ee3-2840-467c-9e11-8e269ccc60a8","Matched_Norm_Sample_UUID":"653e6401-123b-4136-b07b-26c50359235e","HGVSc":"c.3627A>T","HGVSp":"p.Pro1209=","HGVSp_Short":"p.P1209=","Transcript_ID":"ENST00000370571","Exon_Number":"42/60","t_depth":54,"t_ref_count":44,"t_alt_count":10,"n_depth":25,"all_effects":"COL24A1,splice_region_variant,p.P1209=,ENST00000370571,NM_152890.7&NM_001349955.1,c.3627A>T,LOW,YES,,,-1;COL24A1,splice_region_variant,,ENST00000426639,,c.*1077A>T,LOW,,,,-1","Allele":"A","Gene":"ENSG00000171502","Feature":"ENST00000370571","Feature_type":"Transcript","One_Consequence":"splice_region_variant","Consequence":"splice_region_variant;synonymous_variant","cDNA_position":"4003/6834","CDS_position":"3627/5145","Protein_position":"1209/1714","Amino_acids":"P","Codons":"ccA/ccT","Existing_variation":"rs752620036;COSV100993100;COSV65306281","TRANSCRIPT_STRAND":-1,"SYMBOL":"COL24A1","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:20821","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS41353.1","ENSP":"ENSP00000359603","SWISSPROT":"Q17RW2.126","UNIPARC":"UPI000013E81F","UNIPROT_ISOFORM":"Q17RW2-1","RefSeq":"NM_152890.7;NM_001349955.1","MANE":"NM_152890.7","APPRIS":"P1","EXON":"42/60","DOMAINS":"Low_complexity_(Seg):seg;PANTHER:PTHR24023;PANTHER:PTHR24023:SF977;Pfam:PF01391","gnomAD_AF":"4.221e-06","gnomAD_AFR_AF":"0","gnomAD_AMR_AF":"0","gnomAD_ASJ_AF":"0","gnomAD_EAS_AF":"0","gnomAD_FIN_AF":"0","gnomAD_NFE_AF":"0","gnomAD_OTH_AF":"0","gnomAD_SAS_AF":"3.589e-05","MAX_AF":"3.589e-05","MAX_AF_POPS":"gnomAD_SAS","SOMATIC":"0;1;1","IMPACT":"LOW","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"0;1;1","CONTEXT":"CCTACTGGTTC","tumor_bam_uuid":"f9aa0e56-bd51-42c1-8e42-ca452b9748ff","normal_bam_uuid":"035edb39-aa44-4b26-b409-3558f2903753","case_id":"cd902d08-215e-4bd0-88e4-4fd01ab43cbf","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"121","Hugo_Symbol":"PDP2","Entrez_Gene_Id":57546,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr16","Start_Position":66884573,"End_Position":66884573,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"A","dbSNP_RS":"rs376435687","Tumor_Sample_Barcode":"TCGA-97-8547-01A-11D-2393-08","Matched_Norm_Sample_Barcode":"TCGA-97-8547-10A-01D-2393-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"af407765-5f62-4e41-877d-43f2ee3b7b52","Matched_Norm_Sample_UUID":"9f7fa431-82bf-43de-9686-8a219762c5d2","HGVSc":"c.289G>A","HGVSp":"p.Asp97Asn","HGVSp_Short":"p.D97N","Transcript_ID":"ENST00000311765","Exon_Number":"2/2","t_depth":122,"t_ref_count":85,"t_alt_count":37,"n_depth":129,"all_effects":"PDP2,missense_variant,p.D97N,ENST00000311765,NM_001329931.2&NM_001329933.2&NM_001329930.2&NM_001329928.2&NM_001329929.2&NM_001329932.2&NM_020786.4&NM_001329934.2,c.289G>A,MODERATE,YES,tolerated(0.16),benign(0.003),1;PDP2,missense_variant,p.D97N,ENST00000566776,,c.289G>A,MODERATE,,tolerated(0.08),benign(0.003),1;PDP2,missense_variant,p.D97N,ENST00000568869,,c.289G>A,MODERATE,,tolerated(0.13),benign(0.003),1;PDP2,missense_variant,p.D97N,ENST00000561704,,c.289G>A,MODERATE,,tolerated(0.1),benign(0.003),1;PDP2,missense_variant,p.D97N,ENST00000566543,,c.289G>A,MODERATE,,tolerated(0.12),benign(0.003),1;PDP2,downstream_gene_variant,,ENST00000568398,,,MODIFIER,,,,1;PDP2,intron_variant,,ENST00000566805,,n.256+203G>A,MODIFIER,,,,1;PDP2,intron_variant,,ENST00000568720,,n.59+3933G>A,MODIFIER,,,,1;PDP2,upstream_gene_variant,,ENST00000561475,,,MODIFIER,,,,1","Allele":"A","Gene":"ENSG00000172840","Feature":"ENST00000311765","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"469/6997","CDS_position":"289/1590","Protein_position":"97/529","Amino_acids":"D/N","Codons":"Gac/Aac","Existing_variation":"rs376435687","TRANSCRIPT_STRAND":1,"SYMBOL":"PDP2","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:30263","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS10822.1","ENSP":"ENSP00000309548","SWISSPROT":"Q9P2J9.169","UNIPARC":"UPI0000044254","RefSeq":"NM_001329931.2;NM_001329933.2;NM_001329930.2;NM_001329928.2;NM_001329929.2;NM_001329932.2;NM_020786.4;NM_001329934.2","MANE":"NM_020786.4","APPRIS":"P1","SIFT":"tolerated(0.16)","PolyPhen":"benign(0.003)","EXON":"2/2","DOMAINS":"PANTHER:PTHR13832;PANTHER:PTHR13832:SF343;Gene3D:3.60.40.10;SMART:SM00332","ESP_AA_AF":"0","ESP_EA_AF":"0.0001163","MAX_AF":"0.0001163","MAX_AF_POPS":"EA","gnomAD_non_cancer_AF":"6.75858018439612e-06","gnomAD_non_cancer_AFR_AF":"0","gnomAD_non_cancer_AMI_AF":"0","gnomAD_non_cancer_AMR_AF":"0","gnomAD_non_cancer_ASJ_AF":"0","gnomAD_non_cancer_EAS_AF":"0","gnomAD_non_cancer_FIN_AF":"0","gnomAD_non_cancer_MID_AF":"0","gnomAD_non_cancer_NFE_AF":"0","gnomAD_non_cancer_OTH_AF":"0","gnomAD_non_cancer_SAS_AF":"0.00020824700186494","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"CONTEXT":"TTCTTGACCTT","tumor_bam_uuid":"0811f808-87c2-4d93-8673-d373f517c4b6","normal_bam_uuid":"cd1b4eef-95d3-4bb3-b84b-2839ec5d224c","case_id":"ac0d7a82-82cb-4aec-b859-e37375f3de8b","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"293","Hugo_Symbol":"ABCC9","Entrez_Gene_Id":10060,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr12","Start_Position":21915765,"End_Position":21915765,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"T","Tumor_Seq_Allele1":"T","Tumor_Seq_Allele2":"C","Tumor_Sample_Barcode":"TCGA-50-5066-01A-01D-1625-08","Matched_Norm_Sample_Barcode":"TCGA-50-5066-10A-01D-1625-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"f5a97315-1906-4774-980e-0879c6ad368e","Matched_Norm_Sample_UUID":"f64d6df7-fcd5-498a-96b3-854297069bac","HGVSc":"c.719A>G","HGVSp":"p.Lys240Arg","HGVSp_Short":"p.K240R","Transcript_ID":"ENST00000261201","Exon_Number":"5/38","t_depth":83,"t_ref_count":70,"t_alt_count":13,"n_depth":110,"all_effects":"ABCC9,missense_variant,p.K240R,ENST00000261200,NM_001377273.1&NM_020297.3,c.719A>G,MODERATE,YES,tolerated(0.21),benign(0.003),-1;ABCC9,missense_variant,p.K240R,ENST00000261201,NM_005691.3,c.719A>G,MODERATE,,tolerated(0.21),benign(0.012),-1;ABCC9,upstream_gene_variant,,ENST00000544039,NM_001377274.1,,MODIFIER,,,,-1","Allele":"C","Gene":"ENSG00000069431","Feature":"ENST00000261201","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"719/4650","CDS_position":"719/4650","Protein_position":"240/1549","Amino_acids":"K/R","Codons":"aAa/aGa","Existing_variation":"COSV53970002","TRANSCRIPT_STRAND":-1,"SYMBOL":"ABCC9","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:60","BIOTYPE":"protein_coding","CCDS":"CCDS8694.1","ENSP":"ENSP00000261201","SWISSPROT":"O60706.187","TREMBL":"A0A024RAV7.50","UNIPARC":"UPI000013D141","UNIPROT_ISOFORM":"O60706-1","RefSeq":"NM_005691.3","APPRIS":"A1","SIFT":"tolerated(0.21)","PolyPhen":"benign(0.012)","EXON":"5/38","DOMAINS":"PANTHER:PTHR24223;PANTHER:PTHR24223:SF173","SOMATIC":"1","IMPACT":"MODERATE","VARIANT_CLASS":"SNV","TSL":5,"PHENO":"1","GENE_PHENO":"1","CONTEXT":"GCTTTTTGTGA","tumor_bam_uuid":"852be94b-6f6a-499f-86fe-ea9df9709f88","normal_bam_uuid":"46bbcc75-79a7-4dcf-91a2-729de005564b","case_id":"3199cfe5-3be3-43cd-a36b-5cf2c7a9929f","COSMIC":"COSM6071745;COSM6071746","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"432","Hugo_Symbol":"CD1A","Entrez_Gene_Id":909,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr1","Start_Position":158257054,"End_Position":158257054,"Strand":"+","Variant_Classification":"Silent","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-55-7994-01A-11D-2184-08","Matched_Norm_Sample_Barcode":"TCGA-55-7994-10A-01D-2184-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"4c8b463c-8851-4b3b-bc57-327ea12d82d8","Matched_Norm_Sample_UUID":"cad56139-9883-4b4e-9b47-0ddf79030293","HGVSc":"c.873C>A","HGVSp":"p.Val291=","HGVSp_Short":"p.V291=","Transcript_ID":"ENST00000289429","Exon_Number":"4/6","t_depth":80,"t_ref_count":50,"t_alt_count":30,"n_depth":84,"all_effects":"CD1A,synonymous_variant,p.V291=,ENST00000289429,NM_001320652.2&NM_001763.3,c.873C>A,LOW,YES,,,1","Allele":"A","Gene":"ENSG00000158477","Feature":"ENST00000289429","Feature_type":"Transcript","One_Consequence":"synonymous_variant","Consequence":"synonymous_variant","cDNA_position":"1119/1809","CDS_position":"873/984","Protein_position":"291/327","Amino_acids":"V","Codons":"gtC/gtA","Existing_variation":"COSV56860713;COSV99192571","TRANSCRIPT_STRAND":1,"SYMBOL":"CD1A","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:1634","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS1174.1","ENSP":"ENSP00000289429","SWISSPROT":"P06126.187","UNIPARC":"UPI0000161A54","RefSeq":"NM_001320652.2;NM_001763.3","MANE":"NM_001763.3","APPRIS":"P1","EXON":"4/6","DOMAINS":"PDB-ENSP_mappings:1onq.A;PDB-ENSP_mappings:1onq.C;PDB-ENSP_mappings:1xz0.A;PDB-ENSP_mappings:1xz0.C;Gene3D:2.60.40.10;PDB-ENSP_mappings:4x6c.A;PDB-ENSP_mappings:4x6c.C;PDB-ENSP_mappings:4x6d.A;PDB-ENSP_mappings:4x6d.C;PDB-ENSP_mappings:4x6e.A;PDB-ENSP_mappings:4x6f.A;PDB-ENSP_mappings:5j1a.A;PDB-ENSP_mappings:6nux.A;PROSITE_profiles:PS50835;PANTHER:PTHR16675;PANTHER:PTHR16675:SF160;Superfamily:SSF48726;CDD:cd07698","SOMATIC":"1;1","IMPACT":"LOW","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1;1","CONTEXT":"ATCGTCCTCTA","tumor_bam_uuid":"52d3d796-0560-41f0-88d3-a7db827b155c","normal_bam_uuid":"8a26dec8-750d-4964-8874-d02647a449f0","case_id":"67dbe286-edb3-4d07-8f74-9e5254f01945","hotspot":"N","RNA_Support":"Unknown","callers":"muse;varscan2"}
{"X1":"179","Hugo_Symbol":"ENPP2","Entrez_Gene_Id":5168,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr8","Start_Position":119568206,"End_Position":119568206,"Strand":"+","Variant_Classification":"Silent","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"T","Tumor_Sample_Barcode":"TCGA-86-8073-01A-11D-2238-08","Matched_Norm_Sample_Barcode":"TCGA-86-8073-10A-01D-2238-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"b7268ee3-2840-467c-9e11-8e269ccc60a8","Matched_Norm_Sample_UUID":"653e6401-123b-4136-b07b-26c50359235e","HGVSc":"c.2100C>A","HGVSp":"p.Thr700=","HGVSp_Short":"p.T700=","Transcript_ID":"ENST00000075322","Exon_Number":"22/25","t_depth":256,"t_ref_count":222,"t_alt_count":34,"n_depth":145,"all_effects":"ENPP2,synonymous_variant,p.T721=,ENST00000427067,NM_001330600.2,c.2163C>A,LOW,,,,-1;ENPP2,synonymous_variant,p.T752=,ENST00000259486,NM_006209.5,c.2256C>A,LOW,YES,,,-1;ENPP2,synonymous_variant,p.T700=,ENST00000075322,NM_001040092.3,c.2100C>A,LOW,,,,-1;ENPP2,synonymous_variant,p.T725=,ENST00000522826,NM_001130863.3,c.2175C>A,LOW,,,,-1;ENPP2,synonymous_variant,p.T335=,ENST00000522167,,c.1005C>A,LOW,,,,-1;ENPP2,downstream_gene_variant,,ENST00000518109,,,MODIFIER,,,,-1;ENPP2,non_coding_transcript_exon_variant,,ENST00000523861,,n.2721C>A,MODIFIER,,,,-1","Allele":"T","Gene":"ENSG00000136960","Feature":"ENST00000075322","Feature_type":"Transcript","One_Consequence":"synonymous_variant","Consequence":"synonymous_variant","cDNA_position":"2159/3086","CDS_position":"2100/2592","Protein_position":"700/863","Amino_acids":"T","Codons":"acC/acA","Existing_variation":"COSV99307927","TRANSCRIPT_STRAND":-1,"SYMBOL":"ENPP2","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:3357","BIOTYPE":"protein_coding","CCDS":"CCDS34936.1","ENSP":"ENSP00000075322","SWISSPROT":"Q13822.183","UNIPARC":"UPI000013D05C","UNIPROT_ISOFORM":"Q13822-1","RefSeq":"NM_001040092.3","MANE":"NM_001040092.3","EXON":"22/25","DOMAINS":"PDB-ENSP_mappings:4zg6.A;PDB-ENSP_mappings:4zg6.B;PDB-ENSP_mappings:4zg7.A;PDB-ENSP_mappings:4zg9.A;PDB-ENSP_mappings:4zg9.B;PDB-ENSP_mappings:4zga.A;PDB-ENSP_mappings:5kxa.A;PDB-ENSP_mappings:5m7m.A;PDB-ENSP_mappings:5mhp.A;CDD:cd00091;Gene3D:3.40.570.10;Pfam:PF01223;SMART:SM00892;SMART:SM00477;Superfamily:SSF54060;PANTHER:PTHR10151;PANTHER:PTHR10151:SF21","SOMATIC":"1","IMPACT":"LOW","VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","CONTEXT":"ATATTGGTTAC","tumor_bam_uuid":"f9aa0e56-bd51-42c1-8e42-ca452b9748ff","normal_bam_uuid":"035edb39-aa44-4b26-b409-3558f2903753","case_id":"cd902d08-215e-4bd0-88e4-4fd01ab43cbf","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"189","Hugo_Symbol":"LPIN3","Entrez_Gene_Id":64900,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr20","Start_Position":41356031,"End_Position":41356031,"Strand":"+","Variant_Classification":"Silent","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-05-4410-01A-21D-1855-08","Matched_Norm_Sample_Barcode":"TCGA-05-4410-10A-01D-1855-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"f85d0d42-436b-4251-a7fd-7d0f5fddd397","Matched_Norm_Sample_UUID":"e76567fb-2172-446f-87d3-afc4d7ef2b76","HGVSc":"c.1800G>A","HGVSp":"p.Gln600=","HGVSp_Short":"p.Q600=","Transcript_ID":"ENST00000373257","Exon_Number":"14/20","t_depth":95,"t_ref_count":89,"t_alt_count":6,"n_depth":66,"all_effects":"LPIN3,synonymous_variant,p.Q600=,ENST00000373257,NM_022896.3,c.1800G>A,LOW,,,,1;LPIN3,synonymous_variant,p.Q601=,ENST00000632009,NM_001301860.2,c.1803G>A,LOW,YES,,,1;LPIN3,synonymous_variant,p.Q90=,ENST00000445975,,c.270G>A,LOW,,,,1;EMILIN3,downstream_gene_variant,,ENST00000332312,NM_052846.2,,MODIFIER,YES,,,-1;LPIN3,upstream_gene_variant,,ENST00000491528,,,MODIFIER,,,,1;LPIN3,upstream_gene_variant,,ENST00000496565,,,MODIFIER,,,,1","Allele":"A","Gene":"ENSG00000132793","Feature":"ENST00000373257","Feature_type":"Transcript","One_Consequence":"synonymous_variant","Consequence":"synonymous_variant","cDNA_position":"1990/4462","CDS_position":"1800/2556","Protein_position":"600/851","Amino_acids":"Q","Codons":"caG/caA","Existing_variation":"COSV60037448","TRANSCRIPT_STRAND":1,"SYMBOL":"LPIN3","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:14451","BIOTYPE":"protein_coding","ENSP":"ENSP00000362354","SWISSPROT":"Q9BQK8.135","UNIPARC":"UPI0000470AE3","UNIPROT_ISOFORM":"Q9BQK8-1","RefSeq":"NM_022896.3","MANE":"NM_022896.3","APPRIS":"A2","EXON":"14/20","DOMAINS":"Pfam:PF08235;PANTHER:PTHR12181;PANTHER:PTHR12181:SF62","SOMATIC":"1","IMPACT":"LOW","VARIANT_CLASS":"SNV","TSL":5,"PHENO":"1","CONTEXT":"GATCAGATCGT","tumor_bam_uuid":"6eb276cd-f2bb-4620-bcaa-86681e8f01c9","normal_bam_uuid":"bf59c091-609d-431f-8966-64eaea595038","case_id":"d28e465c-e553-4c53-8bb7-3d8199b9a8a5","COSMIC":"COSM6093100","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2"}
{"X1":"302","Hugo_Symbol":"TMEM231","Entrez_Gene_Id":79583,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr16","Start_Position":75542606,"End_Position":75542606,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"C","Tumor_Seq_Allele1":"C","Tumor_Seq_Allele2":"A","Tumor_Sample_Barcode":"TCGA-05-4382-01A-01D-1931-08","Matched_Norm_Sample_Barcode":"TCGA-05-4382-10A-01D-1265-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"43b8f335-bb32-45de-985a-85508048b237","Matched_Norm_Sample_UUID":"20e316a4-d1e4-44d2-881c-527e600203f0","HGVSc":"c.660G>T","HGVSp":"p.Arg220Ser","HGVSp_Short":"p.R220S","Transcript_ID":"ENST00000258173","Exon_Number":"5/7","t_depth":156,"t_ref_count":132,"t_alt_count":24,"n_depth":66,"all_effects":"TMEM231,missense_variant,p.R220S,ENST00000258173,NM_001077418.3,c.660G>T,MODERATE,,deleterious(0),probably_damaging(0.999),-1;TMEM231,missense_variant,p.R249S,ENST00000568377,NM_001077416.2,c.747G>T,MODERATE,YES,deleterious(0),probably_damaging(0.99),-1;TMEM231,missense_variant,p.R172S,ENST00000565067,,c.516G>T,MODERATE,,deleterious(0),probably_damaging(0.984),-1;TMEM231,non_coding_transcript_exon_variant,,ENST00000569294,,n.404G>T,MODIFIER,,,,-1;TMEM231,non_coding_transcript_exon_variant,,ENST00000564576,,n.423G>T,MODIFIER,,,,-1;AC009163.3,missense_variant,p.R52S,ENST00000460606,,c.156G>T,MODERATE,YES,deleterious(0),probably_damaging(0.999),-1;TMEM231,3_prime_UTR_variant,,ENST00000562410,,c.*462G>T,MODIFIER,,,,-1;TMEM231,3_prime_UTR_variant,,ENST00000570006,,c.*40G>T,MODIFIER,,,,-1;TMEM231,downstream_gene_variant,,ENST00000561809,,,MODIFIER,,,,-1;TMEM231,upstream_gene_variant,,ENST00000564318,,,MODIFIER,,,,-1;AC025287.1,non_coding_transcript_exon_variant,,ENST00000564489,,n.737G>T,MODIFIER,YES,,,-1","Allele":"A","Gene":"ENSG00000205084","Feature":"ENST00000258173","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"703/4247","CDS_position":"660/951","Protein_position":"220/316","Amino_acids":"R/S","Codons":"agG/agT","Existing_variation":"COSV99259702","TRANSCRIPT_STRAND":-1,"SYMBOL":"TMEM231","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:37234","BIOTYPE":"protein_coding","CCDS":"CCDS45530.1","ENSP":"ENSP00000258173","SWISSPROT":"Q9H6L2.141","UNIPARC":"UPI00000704D8","UNIPROT_ISOFORM":"Q9H6L2-1","RefSeq":"NM_001077418.3","MANE":"NM_001077418.3","APPRIS":"P1","SIFT":"deleterious(0)","PolyPhen":"probably_damaging(0.999)","EXON":"5/7","DOMAINS":"PANTHER:PTHR14605;Pfam:PF10149","SOMATIC":"1","IMPACT":"MODERATE","VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","GENE_PHENO":"1","CONTEXT":"CCGTTCCTCTC","tumor_bam_uuid":"060c15c0-25ca-4464-8aa3-364396b9b34c","normal_bam_uuid":"f0be1c9e-728c-4655-b792-96bfe1cd5344","case_id":"3434b91a-c05f-460f-a078-7b1bb6e7085d","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"366","Hugo_Symbol":"PCDHB14","Entrez_Gene_Id":56122,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr5","Start_Position":141225659,"End_Position":141225659,"Strand":"+","Variant_Classification":"Silent","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"A","dbSNP_RS":"rs1564002408","Tumor_Sample_Barcode":"TCGA-44-7669-01A-21D-2063-08","Matched_Norm_Sample_Barcode":"TCGA-44-7669-10A-01D-2063-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"9d19ad71-e908-4847-8b5f-c76c63216b53","Matched_Norm_Sample_UUID":"94563be5-dde7-4c55-bc6e-14f2a1243839","HGVSc":"c.2154G>A","HGVSp":"p.Arg718=","HGVSp_Short":"p.R718=","Transcript_ID":"ENST00000239449","Exon_Number":"1/1","t_depth":187,"t_ref_count":149,"t_alt_count":38,"n_depth":285,"all_effects":"PCDHB14,synonymous_variant,p.R718=,ENST00000239449,NM_018934.3,c.2154G>A,LOW,YES,,,1;PCDHB14,synonymous_variant,p.R565=,ENST00000624896,,c.1695G>A,LOW,,,,1;AC244517.10,intron_variant,,ENST00000624396,,c.35+2119G>A,MODIFIER,YES,,,1;AC244517.11,intron_variant,,ENST00000624192,,n.72+16014C>T,MODIFIER,,,,-1","Allele":"A","Gene":"ENSG00000120327","Feature":"ENST00000239449","Feature_type":"Transcript","One_Consequence":"synonymous_variant","Consequence":"synonymous_variant","cDNA_position":"2728/4828","CDS_position":"2154/2397","Protein_position":"718/798","Amino_acids":"R","Codons":"agG/agA","Existing_variation":"rs1564002408;COSV99505778","TRANSCRIPT_STRAND":1,"SYMBOL":"PCDHB14","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:8685","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS4256.1","ENSP":"ENSP00000239449","SWISSPROT":"Q9Y5E9.162","UNIPARC":"UPI00001273E7","UNIPROT_ISOFORM":"Q9Y5E9-1","RefSeq":"NM_018934.3","APPRIS":"P1","EXON":"1/1","DOMAINS":"Pfam:PF16492;PANTHER:PTHR24028;PANTHER:PTHR24028:SF81","SOMATIC":"0;1","IMPACT":"LOW","VARIANT_CLASS":"SNV","PHENO":"0;1","CONTEXT":"AGCAGGGCGGC","tumor_bam_uuid":"d24a6a7f-5a93-4c1b-bdfe-561d67f77de3","normal_bam_uuid":"89db580c-6dbe-4e42-8360-df6e84c7d134","case_id":"4b22ad71-c585-4077-ad3c-c6e026d0c7fa","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"65","Hugo_Symbol":"NR2E1","Entrez_Gene_Id":7101,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr6","Start_Position":108178231,"End_Position":108178231,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"T","Tumor_Seq_Allele1":"T","Tumor_Seq_Allele2":"C","Tumor_Sample_Barcode":"TCGA-55-7726-01A-11D-2167-08","Matched_Norm_Sample_Barcode":"TCGA-55-7726-10A-01D-2167-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"8928b562-7e58-4619-868f-5be53aeec89f","Matched_Norm_Sample_UUID":"5f0443ea-b942-439d-bd2e-f2a7b8e6b678","HGVSc":"c.632T>C","HGVSp":"p.Leu211Ser","HGVSp_Short":"p.L211S","Transcript_ID":"ENST00000368986","Exon_Number":"5/9","t_depth":78,"t_ref_count":67,"t_alt_count":11,"n_depth":54,"all_effects":"NR2E1,missense_variant,p.L211S,ENST00000368986,NM_003269.5,c.632T>C,MODERATE,,tolerated(0.08),benign(0.077),1;NR2E1,missense_variant,p.L248S,ENST00000368983,NM_001286102.1,c.743T>C,MODERATE,YES,deleterious(0.02),benign(0.156),1;NR2E1,downstream_gene_variant,,ENST00000426403,,,MODIFIER,,,,1;NR2E1,downstream_gene_variant,,ENST00000484978,,,MODIFIER,,,,1;AL078596.1,upstream_gene_variant,,ENST00000624856,,,MODIFIER,YES,,,1","Allele":"C","Gene":"ENSG00000112333","Feature":"ENST00000368986","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"1376/3244","CDS_position":"632/1158","Protein_position":"211/385","Amino_acids":"L/S","Codons":"tTg/tCg","Existing_variation":"COSV100934649","TRANSCRIPT_STRAND":1,"SYMBOL":"NR2E1","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:7973","BIOTYPE":"protein_coding","CCDS":"CCDS5063.1","ENSP":"ENSP00000357982","SWISSPROT":"Q9Y466.182","TREMBL":"B6ZGT9.106","UNIPARC":"UPI0000130478","UNIPROT_ISOFORM":"Q9Y466-1","RefSeq":"NM_003269.5","MANE":"NM_003269.5","APPRIS":"P1","SIFT":"tolerated(0.08)","PolyPhen":"benign(0.077)","EXON":"5/9","DOMAINS":"PDB-ENSP_mappings:4xaj.A;PDB-ENSP_mappings:4xaj.B;PDB-ENSP_mappings:4xaj.C;PDB-ENSP_mappings:4xaj.D;CDD:cd06950;Gene3D:1.10.565.10;Pfam:PF00104;SMART:SM00430;Superfamily:SSF48508;PROSITE_profiles:PS51843;PANTHER:PTHR24083:SF98;PANTHER:PTHR24083;Prints:PR00398","SOMATIC":"1","IMPACT":"MODERATE","VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","CONTEXT":"GTCTTTGCAAG","tumor_bam_uuid":"0a2b00fc-8700-4f1b-b763-497c830f237d","normal_bam_uuid":"b7c47496-9220-4673-9b76-8d017502635a","case_id":"923b37e4-fcf7-46a0-8cb2-9139711fec7b","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}
{"X1":"492","Hugo_Symbol":"HAPLN4","Entrez_Gene_Id":404037,"Center":"BI","NCBI_Build":"GRCh38","Chromosome":"chr19","Start_Position":19261012,"End_Position":19261012,"Strand":"+","Variant_Classification":"Missense_Mutation","Variant_Type":"SNP","Reference_Allele":"G","Tumor_Seq_Allele1":"G","Tumor_Seq_Allele2":"T","Tumor_Sample_Barcode":"TCGA-95-7948-01A-11D-2184-08","Matched_Norm_Sample_Barcode":"TCGA-95-7948-10A-01D-2184-08","Mutation_Status":"Somatic","Tumor_Sample_UUID":"ab3b50c5-0335-4685-acc2-eeadbf2a9c1b","Matched_Norm_Sample_UUID":"984543c0-0d4b-4b68-997e-a8e3a755414d","HGVSc":"c.285C>A","HGVSp":"p.Phe95Leu","HGVSp_Short":"p.F95L","Transcript_ID":"ENST00000291481","Exon_Number":"3/5","t_depth":89,"t_ref_count":70,"t_alt_count":19,"n_depth":121,"all_effects":"HAPLN4,missense_variant,p.F95L,ENST00000291481,NM_023002.3,c.285C>A,MODERATE,YES,tolerated(0.66),benign(0.115),-1;TM6SF2,downstream_gene_variant,,ENST00000389363,NM_001001524.3,,MODIFIER,YES,,,-1;AC138430.2,downstream_gene_variant,,ENST00000624068,,,MODIFIER,YES,,,1;AC138430.1,non_coding_transcript_exon_variant,,ENST00000586064,,n.1416C>A,MODIFIER,YES,,,-1;HAPLN4,non_coding_transcript_exon_variant,,ENST00000592862,,n.402C>A,MODIFIER,,,,-1;TM6SF2,downstream_gene_variant,,ENST00000431465,,,MODIFIER,,,,-1;TM6SF2,downstream_gene_variant,,ENST00000590431,,,MODIFIER,,,,-1;TM6SF2,downstream_gene_variant,,ENST00000591001,,,MODIFIER,,,,-1","Allele":"T","Gene":"ENSG00000187664","Feature":"ENST00000291481","Feature_type":"Transcript","One_Consequence":"missense_variant","Consequence":"missense_variant","cDNA_position":"357/4342","CDS_position":"285/1209","Protein_position":"95/402","Amino_acids":"F/L","Codons":"ttC/ttA","Existing_variation":"COSV52270517","TRANSCRIPT_STRAND":-1,"SYMBOL":"HAPLN4","SYMBOL_SOURCE":"HGNC","HGNC_ID":"HGNC:31357","BIOTYPE":"protein_coding","CANONICAL":"YES","CCDS":"CCDS12398.1","ENSP":"ENSP00000291481","SWISSPROT":"Q86UW8.139","UNIPARC":"UPI00000496C7","RefSeq":"NM_023002.3","MANE":"NM_023002.3","APPRIS":"P1","SIFT":"tolerated(0.66)","PolyPhen":"benign(0.115)","EXON":"3/5","DOMAINS":"PROSITE_profiles:PS50835;PANTHER:PTHR22804:SF11;PANTHER:PTHR22804;Gene3D:2.60.40.10;Pfam:PF07686;SMART:SM00406;SMART:SM00409;SMART:SM00408;Superfamily:SSF48726","SOMATIC":"1","IMPACT":"MODERATE","PICK":1,"VARIANT_CLASS":"SNV","TSL":1,"PHENO":"1","CONTEXT":"TCGGTGAAGGC","tumor_bam_uuid":"695a3d72-7a7e-4433-bef4-9dd9b9398c26","normal_bam_uuid":"96a3c372-1c24-4b6f-a6fd-f04f1eb0166e","case_id":"a52e99d6-a61a-439d-b0b1-ca7a0eabcb04","COSMIC":"COSM6150011","hotspot":"N","RNA_Support":"Unknown","callers":"muse;mutect2;varscan2"}