#version gdc-1.0.0 #annotation.spec gdc-1.0.0-aliquot-merged-masked #contigs chr1,chr2,chr3,chr4,chr5,chr6,chr7,chr8,chr9,chr10,chr11,chr12,chr13,chr14,chr15,chr16,chr17,chr18,chr19,chr20,chr21,chr22,chrX,chrY,chrM #sort.order BarcodesAndCoordinate #filedate 20190328 #normal.aliquot ee2e8e8d-ba25-4c4c-9d0b-87383c2e5e00 #tumor.aliquot 420d2978-45d2-4aad-b72c-db68d37a380c Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_Position End_Position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_File Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID HGVSc HGVSp HGVSp_Short Transcript_ID Exon_Number t_depth t_ref_count t_alt_count n_depth n_ref_count n_alt_count all_effects Allele Gene Feature Feature_type One_Consequence Consequence cDNA_position CDS_position Protein_position Amino_acids Codons Existing_variation DISTANCE TRANSCRIPT_STRAND SYMBOL SYMBOL_SOURCE HGNC_ID BIOTYPE CANONICAL CCDS ENSP SWISSPROT TREMBL UNIPARC RefSeq SIFT PolyPhen EXON INTRON DOMAINS GMAF AFR_MAF AMR_MAF ASN_MAF EAS_MAF EUR_MAF SAS_MAF AA_MAF EA_MAF CLIN_SIG SOMATIC PUBMED MOTIF_NAME MOTIF_POS HIGH_INF_POS MOTIF_SCORE_CHANGE IMPACT PICK VARIANT_CLASS TSL HGVS_OFFSET PHENO ExAC_AF ExAC_AF_Adj ExAC_AF_AFR ExAC_AF_AMR ExAC_AF_EAS ExAC_AF_FIN ExAC_AF_NFE ExAC_AF_OTH ExAC_AF_SAS nontcga_ExAC_AF nontcga_ExAC_AF_Adj nontcga_ExAC_AF_AFR nontcga_ExAC_AF_AMR nontcga_ExAC_AF_EAS nontcga_ExAC_AF_FIN nontcga_ExAC_AF_NFE nontcga_ExAC_AF_OTH nontcga_ExAC_AF_SAS GENE_PHENO CONTEXT tumor_bam_uuid normal_bam_uuid case_id GDC_FILTER COSMIC hotspot callers UROD 7389 TGen GRCh38 chr1 45012953 45012953 + Missense_Mutation SNP G G C novel MMRF_2214_1_BM_CD138pos_T1_KHS5U_L08691 MMRF_2214_1_PB_Whole_C3_KHS5U_L08690 Somatic 420d2978-45d2-4aad-b72c-db68d37a380c ee2e8e8d-ba25-4c4c-9d0b-87383c2e5e00 c.67G>C p.Ala23Pro p.A23P ENST00000246337 2/10 104 56 48 166 UROD,missense_variant,p.A23P,ENST00000246337,NM_000374.4,c.67G>C,MODERATE,YES,deleterious(0),probably_damaging(0.999),1;UROD,missense_variant,p.A17P,ENST00000428106,,c.47G>C,MODERATE,,deleterious(0),probably_damaging(0.986),1;UROD,missense_variant,p.A23P,ENST00000434478,,c.67G>C,MODERATE,,deleterious(0.02),probably_damaging(0.988),1;ZSWIM5,downstream_gene_variant,,ENST00000359600,NM_020883.1,,MODIFIER,YES,,,-1;HECTD3,upstream_gene_variant,,ENST00000372172,NM_024602.5,,MODIFIER,YES,,,-1;HECTD3,upstream_gene_variant,,ENST00000372168,,,MODIFIER,,,,-1;UROD,non_coding_transcript_exon_variant,,ENST00000494399,,n.131G>C,MODIFIER,,,,1;UROD,non_coding_transcript_exon_variant,,ENST00000469548,,n.263G>C,MODIFIER,,,,1;UROD,non_coding_transcript_exon_variant,,ENST00000486699,,n.168G>C,MODIFIER,,,,1;UROD,non_coding_transcript_exon_variant,,ENST00000463092,,n.148G>C,MODIFIER,,,,1;UROD,non_coding_transcript_exon_variant,,ENST00000462688,,n.118G>C,MODIFIER,,,,1;UROD,non_coding_transcript_exon_variant,,ENST00000491300,,n.167G>C,MODIFIER,,,,1;UROD,non_coding_transcript_exon_variant,,ENST00000490385,,n.65G>C,MODIFIER,,,,1;UROD,non_coding_transcript_exon_variant,,ENST00000478467,,n.150G>C,MODIFIER,,,,1;UROD,non_coding_transcript_exon_variant,,ENST00000460906,,n.65G>C,MODIFIER,,,,1;UROD,non_coding_transcript_exon_variant,,ENST00000496439,,n.46G>C,MODIFIER,,,,1;UROD,non_coding_transcript_exon_variant,,ENST00000491773,,n.221G>C,MODIFIER,,,,1;UROD,non_coding_transcript_exon_variant,,ENST00000460334,,n.75G>C,MODIFIER,,,,1;UROD,non_coding_transcript_exon_variant,,ENST00000473012,,n.19G>C,MODIFIER,,,,1;UROD,non_coding_transcript_exon_variant,,ENST00000461035,,n.171G>C,MODIFIER,,,,1;UROD,upstream_gene_variant,,ENST00000472254,,,MODIFIER,,,,1;UROD,upstream_gene_variant,,ENST00000465678,,,MODIFIER,,,,1;UROD,upstream_gene_variant,,ENST00000466193,,,MODIFIER,,,,1 C ENSG00000126088 ENST00000246337 Transcript missense_variant missense_variant 186/1300 67/1104 23/367 A/P Gcc/Ccc UROD HGNC HGNC:12591 protein_coding YES CCDS518.1 ENSP00000246337 P06132 UPI0000112E85 NM_000374.4 deleterious(0) probably_damaging(0.999) 2/10 Pfam_domain:PF01208;TIGRFAM_domain:TIGR01464;Superfamily_domains:SSF51726 MODERATE 1 SNV 1 GAGCAGCCTGG 90d37dff-736a-4cc5-b347-c3560391e123 c6902ad2-5f04-49b5-bfbe-35f0f1cb00fd 0ca48821-c238-4e18-a7aa-a650c3fb5e20 N muse;mutect2;somaticsniper;varscan2 FAF1 11124 TGen GRCh38 chr1 50452076 50452076 + Intron SNP C C A rs779003533 byFrequency MMRF_2214_1_BM_CD138pos_T1_KHS5U_L08691 MMRF_2214_1_PB_Whole_C3_KHS5U_L08690 Somatic 420d2978-45d2-4aad-b72c-db68d37a380c ee2e8e8d-ba25-4c4c-9d0b-87383c2e5e00 c.1870-10553G>T ENST00000396153 39 20 19 65 FAF1,intron_variant,,ENST00000396153,NM_007051.2,c.1870-10553G>T,MODIFIER,YES,,,-1;FAF1,intron_variant,,ENST00000371778,,c.1390-10553G>T,MODIFIER,,,,-1;FAF1,3_prime_UTR_variant,,ENST00000494400,,c.*10G>T,MODIFIER,,,,-1 A ENSG00000185104 ENST00000396153 Transcript intron_variant intron_variant -/6817 -/1953 -/650 rs779003533 FAF1 HGNC HGNC:3578 protein_coding YES CCDS554.1 ENSP00000379457 Q9UNN5 NM_007051.2 18/18 MODIFIER 1 SNV 1 1.756e-05 1.828e-05 0.0 0.0 0.0 0.0 3.304e-05 0.0 0.0 1.9728924576321345e-05 2.041733022989914e-05 0.0 0.0 0.0 0.0 3.912669222943892e-05 0.0 0.0 AAAAACCGTCT 90d37dff-736a-4cc5-b347-c3560391e123 c6902ad2-5f04-49b5-bfbe-35f0f1cb00fd 0ca48821-c238-4e18-a7aa-a650c3fb5e20 N mutect2;varscan2 DCST1 149095 TGen GRCh38 chr1 155041744 155041744 + Missense_Mutation SNP G G C novel MMRF_2214_1_BM_CD138pos_T1_KHS5U_L08691 MMRF_2214_1_PB_Whole_C3_KHS5U_L08690 Somatic 420d2978-45d2-4aad-b72c-db68d37a380c ee2e8e8d-ba25-4c4c-9d0b-87383c2e5e00 c.779G>C p.Arg260Pro p.R260P ENST00000295542 8/17 105 45 60 186 DCST1,missense_variant,p.R260P,ENST00000295542,NM_152494.3,c.779G>C,MODERATE,YES,deleterious(0.01),benign(0.422),1;DCST1,missense_variant,p.R260P,ENST00000368419,,c.779G>C,MODERATE,,deleterious(0.03),possibly_damaging(0.626),1;DCST1,missense_variant,p.R235P,ENST00000423025,NM_001143687.2,c.704G>C,MODERATE,,deleterious(0.01),benign(0.422),1;RP11-307C12.11,downstream_gene_variant,,ENST00000452962,,,MODIFIER,YES,,,-1;DCST1,missense_variant,p.R285P,ENST00000525273,,c.854G>C,MODERATE,,deleterious(0.01),possibly_damaging(0.752),1 C ENSG00000163357 ENST00000295542 Transcript missense_variant missense_variant 875/2279 779/2121 260/706 R/P cGt/cCt DCST1 HGNC HGNC:26539 protein_coding YES CCDS1083.1 ENSP00000295542 Q5T197 UPI000013E269 NM_152494.3 deleterious(0.01) benign(0.422) 8/17 MODERATE 1 SNV 2 CTGCCGTCGTT 90d37dff-736a-4cc5-b347-c3560391e123 c6902ad2-5f04-49b5-bfbe-35f0f1cb00fd 0ca48821-c238-4e18-a7aa-a650c3fb5e20 N muse;mutect2;somaticsniper;varscan2 KCNJ9 3765 TGen GRCh38 chr1 160084579 160084579 + Silent SNP C C T novel MMRF_2214_1_BM_CD138pos_T1_KHS5U_L08691 MMRF_2214_1_PB_Whole_C3_KHS5U_L08690 Somatic 420d2978-45d2-4aad-b72c-db68d37a380c ee2e8e8d-ba25-4c4c-9d0b-87383c2e5e00 c.549C>T p.= p.D183D ENST00000368088 2/3 47 23 24 57 KCNJ9,synonymous_variant,p.D183D,ENST00000368088,NM_004983.2,c.549C>T,LOW,YES,,,1;RP11-536C5.2,downstream_gene_variant,,ENST00000435580,,,MODIFIER,YES,,,1 T ENSG00000162728 ENST00000368088 Transcript synonymous_variant synonymous_variant 791/4170 549/1182 183/393 D gaC/gaT KCNJ9 HGNC HGNC:6270 protein_coding YES CCDS1194.1 ENSP00000357067 Q92806 UPI000013E1B3 NM_004983.2 2/3 Pfam_domain:PF01007;Superfamily_domains:SSF81296;PIRSF_domain:PIRSF005465 LOW 1 SNV 1 CGCGACGGGCG 90d37dff-736a-4cc5-b347-c3560391e123 c6902ad2-5f04-49b5-bfbe-35f0f1cb00fd 0ca48821-c238-4e18-a7aa-a650c3fb5e20 N muse;mutect2;somaticsniper;varscan2 XPR1 9213 TGen GRCh38 chr1 180806149 180806149 + Missense_Mutation SNP C C A novel MMRF_2214_1_BM_CD138pos_T1_KHS5U_L08691 MMRF_2214_1_PB_Whole_C3_KHS5U_L08690 Somatic 420d2978-45d2-4aad-b72c-db68d37a380c ee2e8e8d-ba25-4c4c-9d0b-87383c2e5e00 c.535C>A p.His179Asn p.H179N ENST00000367590 5/15 123 64 59 224 XPR1,missense_variant,p.H179N,ENST00000367590,NM_004736.3,c.535C>A,MODERATE,YES,tolerated(0.37),benign(0.003),1;XPR1,missense_variant,p.H179N,ENST00000367589,NM_001135669.1,c.535C>A,MODERATE,,tolerated(0.19),benign(0.056),1 A ENSG00000143324 ENST00000367590 Transcript missense_variant missense_variant 733/8474 535/2091 179/696 H/N Cac/Aac XPR1 HGNC HGNC:12827 protein_coding YES CCDS1340.1 ENSP00000356562 Q9UBH6 A0A024R911 UPI0000071111 NM_004736.3 tolerated(0.37) benign(0.003) 5/15 MODERATE 1 SNV 1 TGGCTCACGTA 90d37dff-736a-4cc5-b347-c3560391e123 c6902ad2-5f04-49b5-bfbe-35f0f1cb00fd 0ca48821-c238-4e18-a7aa-a650c3fb5e20 N muse;mutect2;somaticsniper;varscan2 NPL 80896 TGen GRCh38 chr1 182809298 182809298 + Intron SNP G G A novel MMRF_2214_1_BM_CD138pos_T1_KHS5U_L08691 MMRF_2214_1_PB_Whole_C3_KHS5U_L08690 Somatic 420d2978-45d2-4aad-b72c-db68d37a380c ee2e8e8d-ba25-4c4c-9d0b-87383c2e5e00 c.231-2858G>A ENST00000258317 25 12 13 34 NPL,intron_variant,,ENST00000367554,NM_001200050.1,c.173+2767G>A,MODIFIER,,,,1;NPL,intron_variant,,ENST00000258317,,c.231-2858G>A,MODIFIER,YES,,,1;NPL,intron_variant,,ENST00000614468,NM_001200052.1,c.231-2858G>A,MODIFIER,,,,1;NPL,intron_variant,,ENST00000367553,NM_001200056.1&NM_030769.2,c.231-2858G>A,MODIFIER,,,,1;NPL,intron_variant,,ENST00000367555,NM_001200051.1,c.231-2858G>A,MODIFIER,,,,1;NPL,intron_variant,,ENST00000367552,,c.231-2858G>A,MODIFIER,,,,1;NPL,non_coding_transcript_exon_variant,,ENST00000463899,,n.484G>A,MODIFIER,,,,1;NPL,intron_variant,,ENST00000488424,,n.815-2858G>A,MODIFIER,,,,1;NPL,intron_variant,,ENST00000460690,,n.770-2858G>A,MODIFIER,,,,1;NPL,intron_variant,,ENST00000479721,,n.418-2858G>A,MODIFIER,,,,1;NPL,downstream_gene_variant,,ENST00000471010,,,MODIFIER,,,,1 A ENSG00000135838 ENST00000258317 Transcript intron_variant intron_variant -/2461 -/963 -/320 NPL HGNC HGNC:16781 protein_coding YES CCDS1350.1 ENSP00000258317 Q9BXD5 UPI00000728AB 3/10 MODIFIER 1 SNV 1 CTTTGGGAGGC 90d37dff-736a-4cc5-b347-c3560391e123 c6902ad2-5f04-49b5-bfbe-35f0f1cb00fd 0ca48821-c238-4e18-a7aa-a650c3fb5e20 N muse;mutect2;somaticsniper;varscan2 SYT2 127833 TGen GRCh38 chr1 202596296 202596296 + 3'UTR SNP C C T rs113871158 MMRF_2214_1_BM_CD138pos_T1_KHS5U_L08691 MMRF_2214_1_PB_Whole_C3_KHS5U_L08690 Somatic 420d2978-45d2-4aad-b72c-db68d37a380c ee2e8e8d-ba25-4c4c-9d0b-87383c2e5e00 c.*461G>A ENST00000367267 9/9 25 16 8 30 SYT2,3_prime_UTR_variant,,ENST00000367267,NM_001136504.1,c.*461G>A,MODIFIER,YES,,,-1;SYT2,3_prime_UTR_variant,,ENST00000367268,NM_177402.4,c.*461G>A,MODIFIER,,,,-1;PPP1R12B,downstream_gene_variant,,ENST00000608999,NM_002481.3,,MODIFIER,YES,,,1 T ENSG00000143858 ENST00000367267 Transcript 3_prime_UTR_variant 3_prime_UTR_variant 1914/7614 -/1260 -/419 rs113871158 SYT2 HGNC HGNC:11510 protein_coding YES CCDS1427.1 ENSP00000356236 Q8N9I0 A0A024R9B3 UPI000006E8FC NM_001136504.1 9/9 MODIFIER SNV 2 ACACACACACA 90d37dff-736a-4cc5-b347-c3560391e123 c6902ad2-5f04-49b5-bfbe-35f0f1cb00fd 0ca48821-c238-4e18-a7aa-a650c3fb5e20 N muse;somaticsniper;varscan2 SERTAD4 56256 TGen GRCh38 chr1 210233985 210233985 + Intron SNP T T G novel MMRF_2214_1_BM_CD138pos_T1_KHS5U_L08691 MMRF_2214_1_PB_Whole_C3_KHS5U_L08690 Somatic 420d2978-45d2-4aad-b72c-db68d37a380c ee2e8e8d-ba25-4c4c-9d0b-87383c2e5e00 c.-18+974T>G ENST00000367012 54 18 12 76 SERTAD4,intron_variant,,ENST00000367012,NM_019605.3,c.-18+974T>G,MODIFIER,YES,,,1;SERTAD4-AS1,non_coding_transcript_exon_variant,,ENST00000437764,,n.60A>C,MODIFIER,YES,,,-1;SERTAD4-AS1,non_coding_transcript_exon_variant,,ENST00000480052,,n.63A>C,MODIFIER,,,,-1;SERTAD4-AS1,upstream_gene_variant,,ENST00000475406,,,MODIFIER,,,,-1;SERTAD4,upstream_gene_variant,,ENST00000490620,,,MODIFIER,,,,1;SERTAD4,upstream_gene_variant,,ENST00000482421,,,MODIFIER,,,,1;SERTAD4,upstream_gene_variant,,ENST00000483884,,,MODIFIER,,,,1 G ENSG00000082497 ENST00000367012 Transcript intron_variant intron_variant -/5219 -/1071 -/356 SERTAD4 HGNC HGNC:25236 protein_coding YES CCDS1494.1 ENSP00000355979 Q9NUC0 UPI0000070BBE NM_019605.3 1/3 MODIFIER 1 SNV 1 CTTGGTTTTTT 90d37dff-736a-4cc5-b347-c3560391e123 c6902ad2-5f04-49b5-bfbe-35f0f1cb00fd 0ca48821-c238-4e18-a7aa-a650c3fb5e20 N somaticsniper;varscan2 SERTAD4 56256 TGen GRCh38 chr1 210233986 210233986 + Intron SNP T T G novel MMRF_2214_1_BM_CD138pos_T1_KHS5U_L08691 MMRF_2214_1_PB_Whole_C3_KHS5U_L08690 Somatic 420d2978-45d2-4aad-b72c-db68d37a380c ee2e8e8d-ba25-4c4c-9d0b-87383c2e5e00 c.-18+975T>G ENST00000367012 73 53 16 102 SERTAD4,intron_variant,,ENST00000367012,NM_019605.3,c.-18+975T>G,MODIFIER,YES,,,1;SERTAD4-AS1,non_coding_transcript_exon_variant,,ENST00000437764,,n.59A>C,MODIFIER,YES,,,-1;SERTAD4-AS1,non_coding_transcript_exon_variant,,ENST00000480052,,n.62A>C,MODIFIER,,,,-1;SERTAD4-AS1,upstream_gene_variant,,ENST00000475406,,,MODIFIER,,,,-1;SERTAD4,upstream_gene_variant,,ENST00000490620,,,MODIFIER,,,,1;SERTAD4,upstream_gene_variant,,ENST00000482421,,,MODIFIER,,,,1;SERTAD4,upstream_gene_variant,,ENST00000483884,,,MODIFIER,,,,1 G ENSG00000082497 ENST00000367012 Transcript intron_variant intron_variant -/5219 -/1071 -/356 SERTAD4 HGNC HGNC:25236 protein_coding YES CCDS1494.1 ENSP00000355979 Q9NUC0 UPI0000070BBE NM_019605.3 1/3 MODIFIER 1 SNV 1 TTGGTTTTTTT 90d37dff-736a-4cc5-b347-c3560391e123 c6902ad2-5f04-49b5-bfbe-35f0f1cb00fd 0ca48821-c238-4e18-a7aa-a650c3fb5e20 N somaticsniper;varscan2 GNG4 2786 TGen GRCh38 chr1 235551314 235551314 + 3'UTR SNP C C T novel MMRF_2214_1_BM_CD138pos_T1_KHS5U_L08691 MMRF_2214_1_PB_Whole_C3_KHS5U_L08690 Somatic 420d2978-45d2-4aad-b72c-db68d37a380c ee2e8e8d-ba25-4c4c-9d0b-87383c2e5e00 c.*795G>A ENST00000366597 3/3 27 16 11 48 GNG4,3_prime_UTR_variant,,ENST00000391854,NM_001098722.1,c.*795G>A,MODIFIER,YES,,,-1;GNG4,3_prime_UTR_variant,,ENST00000450593,NM_001098721.1,c.*795G>A,MODIFIER,,,,-1;GNG4,3_prime_UTR_variant,,ENST00000366598,NM_004485.3,c.*795G>A,MODIFIER,,,,-1;GNG4,3_prime_UTR_variant,,ENST00000366597,,c.*795G>A,MODIFIER,,,,-1;GNG4,downstream_gene_variant,,ENST00000484517,,,MODIFIER,,,,-1 T ENSG00000168243 ENST00000366597 Transcript 3_prime_UTR_variant 3_prime_UTR_variant 1113/1595 -/228 -/75 GNG4 HGNC HGNC:4407 protein_coding CCDS1607.1 ENSP00000355556 P50150 B1APZ0 UPI000012B22C 3/3 MODIFIER SNV 1 CGAGGCGGGTG 90d37dff-736a-4cc5-b347-c3560391e123 c6902ad2-5f04-49b5-bfbe-35f0f1cb00fd 0ca48821-c238-4e18-a7aa-a650c3fb5e20 N muse;mutect2 MXD1 4084 TGen GRCh38 chr2 69941857 69941858 + 3'UTR DEL TA TA - rs5831989 by1000G;byCluster;byFrequency MMRF_2214_1_BM_CD138pos_T1_KHS5U_L08691 MMRF_2214_1_PB_Whole_C3_KHS5U_L08690 Somatic 420d2978-45d2-4aad-b72c-db68d37a380c ee2e8e8d-ba25-4c4c-9d0b-87383c2e5e00 c.*3579_*3580delTA ENST00000264444 6/6 28 24 4 34 MXD1,3_prime_UTR_variant,,ENST00000264444,NM_002357.3&NM_001202513.1,c.*3579_*3580delTA,MODIFIER,YES,,,1;MXD1,3_prime_UTR_variant,,ENST00000540449,NM_001202514.1,c.*3579_*3580delTA,MODIFIER,,,,1;MXD1,downstream_gene_variant,,ENST00000435990,,,MODIFIER,,,,1;MXD1,intron_variant,,ENST00000465446,,n.189-778_189-777delTA,MODIFIER,,,,1;MXD1,downstream_gene_variant,,ENST00000409442,,,MODIFIER,,,,1 - ENSG00000059728 ENST00000264444 Transcript 3_prime_UTR_variant 3_prime_UTR_variant 4499-4500/5587 -/666 -/221 rs5831989 MXD1 HGNC HGNC:6761 protein_coding YES CCDS1896.1 ENSP00000264444 Q05195 UPI0000035C7D NM_002357.3;NM_001202513.1 6/6 0.1166 0.1808 0.2709 0.1141 0.0089 0.0337 MODIFIER 1 deletion 1 6 AGTATCTATATAT 90d37dff-736a-4cc5-b347-c3560391e123 c6902ad2-5f04-49b5-bfbe-35f0f1cb00fd 0ca48821-c238-4e18-a7aa-a650c3fb5e20 N pindel;varscan2 USP39 10713 TGen GRCh38 chr2 85648790 85648790 + Silent SNP C C G novel MMRF_2214_1_BM_CD138pos_T1_KHS5U_L08691 MMRF_2214_1_PB_Whole_C3_KHS5U_L08690 Somatic 420d2978-45d2-4aad-b72c-db68d37a380c ee2e8e8d-ba25-4c4c-9d0b-87383c2e5e00 c.1680C>G p.= p.T560T ENST00000323701 13/13 48 31 17 99 USP39,synonymous_variant,p.T560T,ENST00000323701,NM_006590.3,c.1680C>G,LOW,YES,,,1;USP39,synonymous_variant,p.T482T,ENST00000613444,NM_001256727.1,c.1446C>G,LOW,,,,1;USP39,synonymous_variant,p.T457T,ENST00000450066,NM_001256728.1,c.1371C>G,LOW,,,,1;USP39,synonymous_variant,p.T560T,ENST00000409470,NM_001256725.1,c.1680C>G,LOW,,,,1;USP39,synonymous_variant,p.T531T,ENST00000409025,,c.1593C>G,LOW,,,,1;USP39,3_prime_UTR_variant,,ENST00000409766,NM_001256726.1,c.*77C>G,MODIFIER,,,,1;USP39,non_coding_transcript_exon_variant,,ENST00000459775,,n.1658C>G,MODIFIER,,,,1;USP39,non_coding_transcript_exon_variant,,ENST00000490193,,n.611C>G,MODIFIER,,,,1;USP39,non_coding_transcript_exon_variant,,ENST00000465514,,n.339C>G,MODIFIER,,,,1;USP39,downstream_gene_variant,,ENST00000496047,,,MODIFIER,,,,1;USP39,downstream_gene_variant,,ENST00000493829,,,MODIFIER,,,,1 G ENSG00000168883 ENST00000323701 Transcript synonymous_variant synonymous_variant 1690/2177 1680/1698 560/565 T acC/acG USP39 HGNC HGNC:20071 protein_coding YES CCDS33234.1 ENSP00000312981 Q53GS9 UPI000003771A NM_006590.3 13/13 LOW 1 SNV 1 GAAACCAACCA 90d37dff-736a-4cc5-b347-c3560391e123 c6902ad2-5f04-49b5-bfbe-35f0f1cb00fd 0ca48821-c238-4e18-a7aa-a650c3fb5e20 N muse;mutect2;somaticsniper;varscan2 IGKV4-1 28908 TGen GRCh38 chr2 88885941 88885941 + Missense_Mutation SNP T T G rs141709704 by1000G;byFrequency MMRF_2214_1_BM_CD138pos_T1_KHS5U_L08691 MMRF_2214_1_PB_Whole_C3_KHS5U_L08690 Somatic 420d2978-45d2-4aad-b72c-db68d37a380c ee2e8e8d-ba25-4c4c-9d0b-87383c2e5e00 c.151T>G p.Tyr51Asp p.Y51D ENST00000390243 2/2 44 0 44 150 IGKV4-1,missense_variant,p.Y51D,ENST00000390243,,c.151T>G,MODERATE,YES,tolerated(0.17),benign(0.003),1;IGKC,intron_variant,,ENST00000610638,,c.45-24385A>C,MODIFIER,,,,-1;IGKC,intron_variant,,ENST00000614252,,c.374-28258A>C,MODIFIER,,,,-1;IGKC,intron_variant,,ENST00000430694,,c.345-24683A>C,MODIFIER,,,,-1;IGKC,intron_variant,,ENST00000614656,,c.352-25019A>C,MODIFIER,YES,,,-1;IGKV1-8,intron_variant,,ENST00000377423,,c.348-24021A>C,MODIFIER,YES,,,-1;IGKV3-11,intron_variant,,ENST00000611170,,c.342-24018A>C,MODIFIER,YES,,,-1 G ENSG00000211598 ENST00000390243 Transcript missense_variant missense_variant 326/538 151/363 51/121 Y/D Tac/Gac rs141709704 IGKV4-1 HGNC HGNC:5834 IG_V_gene YES ENSP00000374778 P06312 UPI0000113B70 tolerated(0.17) benign(0.003) 2/2 Pfam_domain:PF07686;PROSITE_profiles:PS50835;SMART_domains:SM00409;SMART_domains:SM00406;Superfamily_domains:SSF48726 MODERATE 1 SNV 8.295e-05 8.414e-05 0.000105 8.817e-05 0.0001181 0.0 0.0001067 0.0 0.0 9.490187146490529e-05 9.644503597399841e-05 0.0001221001221001221 9.107468123861566e-05 0.00013007284079084288 0.0 0.0001314949092685126 0.0 0.0 TTTTATACAGC 90d37dff-736a-4cc5-b347-c3560391e123 c6902ad2-5f04-49b5-bfbe-35f0f1cb00fd 0ca48821-c238-4e18-a7aa-a650c3fb5e20 N muse;somaticsniper;varscan2 IGKV4-1 28908 TGen GRCh38 chr2 88886003 88886003 + Silent SNP G G A rs182045278 by1000G;byCluster;byFrequency MMRF_2214_1_BM_CD138pos_T1_KHS5U_L08691 MMRF_2214_1_PB_Whole_C3_KHS5U_L08690 Somatic 420d2978-45d2-4aad-b72c-db68d37a380c ee2e8e8d-ba25-4c4c-9d0b-87383c2e5e00 c.213G>A p.= p.K71K ENST00000390243 2/2 52 0 52 154 IGKV4-1,synonymous_variant,p.K71K,ENST00000390243,,c.213G>A,LOW,YES,,,1;IGKC,intron_variant,,ENST00000610638,,c.45-24447C>T,MODIFIER,,,,-1;IGKC,intron_variant,,ENST00000614252,,c.374-28320C>T,MODIFIER,,,,-1;IGKC,intron_variant,,ENST00000430694,,c.345-24745C>T,MODIFIER,,,,-1;IGKC,intron_variant,,ENST00000614656,,c.352-25081C>T,MODIFIER,YES,,,-1;IGKV1-8,intron_variant,,ENST00000377423,,c.348-24083C>T,MODIFIER,YES,,,-1;IGKV3-11,intron_variant,,ENST00000611170,,c.342-24080C>T,MODIFIER,YES,,,-1 A ENSG00000211598 ENST00000390243 Transcript synonymous_variant synonymous_variant 388/538 213/363 71/121 K aaG/aaA rs182045278 IGKV4-1 HGNC HGNC:5834 IG_V_gene YES ENSP00000374778 P06312 UPI0000113B70 2/2 Pfam_domain:PF07686;PROSITE_profiles:PS50835;SMART_domains:SM00409;SMART_domains:SM00406;Superfamily_domains:SSF48726 0.0 0.0004 LOW 1 SNV 0.0004233 0.0003539 0.0008466 0.0002653 0.0004742 0.0 0.0003811 0.0 0.0001217 0.0004843764839965809 0.00040569518768232137 0.0009854644000985464 0.00027412280701754384 0.0005224660397074191 0.0 0.00046974821495678314 0.0 0.00012250398137939484 CCTAAGCTGCT 90d37dff-736a-4cc5-b347-c3560391e123 c6902ad2-5f04-49b5-bfbe-35f0f1cb00fd 0ca48821-c238-4e18-a7aa-a650c3fb5e20 COSN23050136 N muse;somaticsniper;varscan2 IGKV4-1 28908 TGen GRCh38 chr2 88886007 88886007 + Missense_Mutation SNP C C A rs760776890 byFrequency MMRF_2214_1_BM_CD138pos_T1_KHS5U_L08691 MMRF_2214_1_PB_Whole_C3_KHS5U_L08690 Somatic 420d2978-45d2-4aad-b72c-db68d37a380c ee2e8e8d-ba25-4c4c-9d0b-87383c2e5e00 c.217C>A p.Leu73Ile p.L73I ENST00000390243 2/2 48 0 48 150 IGKV4-1,missense_variant,p.L73I,ENST00000390243,,c.217C>A,MODERATE,YES,deleterious(0.02),possibly_damaging(0.582),1;IGKC,intron_variant,,ENST00000610638,,c.45-24451G>T,MODIFIER,,,,-1;IGKC,intron_variant,,ENST00000614252,,c.374-28324G>T,MODIFIER,,,,-1;IGKC,intron_variant,,ENST00000430694,,c.345-24749G>T,MODIFIER,,,,-1;IGKC,intron_variant,,ENST00000614656,,c.352-25085G>T,MODIFIER,YES,,,-1;IGKV1-8,intron_variant,,ENST00000377423,,c.348-24087G>T,MODIFIER,YES,,,-1;IGKV3-11,intron_variant,,ENST00000611170,,c.342-24084G>T,MODIFIER,YES,,,-1 A ENSG00000211598 ENST00000390243 Transcript missense_variant missense_variant 392/538 217/363 73/121 L/I Ctc/Atc rs760776890 IGKV4-1 HGNC HGNC:5834 IG_V_gene YES ENSP00000374778 P06312 UPI0000113B70 deleterious(0.02) possibly_damaging(0.582) 2/2 Pfam_domain:PF07686;PROSITE_profiles:PS50835;SMART_domains:SM00409;SMART_domains:SM00406;Superfamily_domains:SSF48726 MODERATE 1 SNV 2.49e-05 2.525e-05 0.0003165 0.0 0.0 0.0 0.0 0.0 0.0 2.8494358117092816e-05 2.8938534552610255e-05 0.0003682789098944267 0.0 0.0 0.0 0.0 0.0 0.0 AGCTGCTCATT 90d37dff-736a-4cc5-b347-c3560391e123 c6902ad2-5f04-49b5-bfbe-35f0f1cb00fd 0ca48821-c238-4e18-a7aa-a650c3fb5e20 N muse;somaticsniper;varscan2 TFCP2L1 29842 TGen GRCh38 chr2 121231889 121231889 + Silent SNP G G T rs756414475 byFrequency MMRF_2214_1_BM_CD138pos_T1_KHS5U_L08691 MMRF_2214_1_PB_Whole_C3_KHS5U_L08690 Somatic 420d2978-45d2-4aad-b72c-db68d37a380c ee2e8e8d-ba25-4c4c-9d0b-87383c2e5e00 c.1278C>A p.= p.P426P ENST00000263707 13/15 99 52 47 130 TFCP2L1,synonymous_variant,p.P426P,ENST00000263707,NM_014553.2,c.1278C>A,LOW,YES,,,-1;TFCP2L1,non_coding_transcript_exon_variant,,ENST00000464621,,n.264C>A,MODIFIER,,,,-1 T ENSG00000115112 ENST00000263707 Transcript synonymous_variant synonymous_variant 1376/9292 1278/1440 426/479 P ccC/ccA rs756414475 TFCP2L1 HGNC HGNC:17925 protein_coding YES CCDS2134.1 ENSP00000263707 Q9NZI6 UPI0000072817 NM_014553.2 13/15 LOW 1 SNV 1 8.236e-06 8.273e-06 0.0 0.0 0.0 0.0001513 0.0 0.0 0.0 9.415309292910272e-06 9.462349312087206e-06 0.0 0.0 0.0 0.000151285930408472 0.0 0.0 0.0 TGCTGGGGGGA 90d37dff-736a-4cc5-b347-c3560391e123 c6902ad2-5f04-49b5-bfbe-35f0f1cb00fd 0ca48821-c238-4e18-a7aa-a650c3fb5e20 N muse;mutect2;somaticsniper;varscan2 TISP43 150527 TGen GRCh38 chr2 130581532 130581532 + 3'Flank SNP A A T novel MMRF_2214_1_BM_CD138pos_T1_KHS5U_L08691 MMRF_2214_1_PB_Whole_C3_KHS5U_L08690 Somatic 420d2978-45d2-4aad-b72c-db68d37a380c ee2e8e8d-ba25-4c4c-9d0b-87383c2e5e00 ENST00000409982 41 30 10 61 TISP43,3_prime_UTR_variant,,ENST00000623376,,c.*903A>T,MODIFIER,,,,1;TISP43,intron_variant,,ENST00000440359,,c.376-729A>T,MODIFIER,,,,1;TISP43,intron_variant,,ENST00000409793,,c.200-726A>T,MODIFIER,,,,1;TISP43,downstream_gene_variant,,ENST00000409982,,,MODIFIER,YES,,,1;AC140481.4,downstream_gene_variant,,ENST00000457169,,,MODIFIER,YES,,,-1;TISP43,intron_variant,,ENST00000419965,,n.318-729A>T,MODIFIER,,,,1;TISP43,intron_variant,,ENST00000414595,,n.133-726A>T,MODIFIER,,,,1 T ENSG00000183292 ENST00000409982 Transcript downstream_gene_variant downstream_gene_variant -/1039 -/483 -/160 4191 TISP43 EntrezGene protein_coding YES ENSP00000387081 B9A030 UPI000188179A MODIFIER 1 SNV 1 CCCCCATCCCT 90d37dff-736a-4cc5-b347-c3560391e123 c6902ad2-5f04-49b5-bfbe-35f0f1cb00fd 0ca48821-c238-4e18-a7aa-a650c3fb5e20 N muse;mutect2;varscan2 RBMS1 5937 TGen GRCh38 chr2 160493757 160493757 + 5'UTR SNP A A G novel MMRF_2214_1_BM_CD138pos_T1_KHS5U_L08691 MMRF_2214_1_PB_Whole_C3_KHS5U_L08690 Somatic 420d2978-45d2-4aad-b72c-db68d37a380c ee2e8e8d-ba25-4c4c-9d0b-87383c2e5e00 c.-394T>C ENST00000348849 1/14 52 26 26 86 RBMS1,5_prime_UTR_variant,,ENST00000348849,NM_002897.4&NM_016836.3,c.-394T>C,MODIFIER,YES,,,-1;RBMS1,upstream_gene_variant,,ENST00000474820,,,MODIFIER,,,,-1;RBMS1,upstream_gene_variant,,ENST00000491781,,,MODIFIER,,,,-1;RBMS1,upstream_gene_variant,,ENST00000477486,,,MODIFIER,,,,-1 G ENSG00000153250 ENST00000348849 Transcript 5_prime_UTR_variant 5_prime_UTR_variant 38/4273 -/1221 -/406 RBMS1 HGNC HGNC:9907 protein_coding YES CCDS2213.1 ENSP00000294904 P29558 UPI00000713D4 NM_002897.4;NM_016836.3 1/14 MODIFIER 1 SNV 1 TCAATACAAGT 90d37dff-736a-4cc5-b347-c3560391e123 c6902ad2-5f04-49b5-bfbe-35f0f1cb00fd 0ca48821-c238-4e18-a7aa-a650c3fb5e20 N muse;mutect2;somaticsniper;varscan2 GIGYF2 26058 TGen GRCh38 chr2 232817022 232817022 + Missense_Mutation SNP G G A MMRF_2214_1_BM_CD138pos_T1_KHS5U_L08691 MMRF_2214_1_PB_Whole_C3_KHS5U_L08690 Somatic 420d2978-45d2-4aad-b72c-db68d37a380c ee2e8e8d-ba25-4c4c-9d0b-87383c2e5e00 c.2360G>A p.Arg787Gln p.R787Q ENST00000373563 20/29 125 61 64 223 GIGYF2,missense_variant,p.R809Q,ENST00000629305,,c.2426G>A,MODERATE,,,unknown(0),1;GIGYF2,missense_variant,p.R787Q,ENST00000409547,NM_015575.3,c.2360G>A,MODERATE,,,unknown(0),1;GIGYF2,missense_variant,p.R809Q,ENST00000409480,,c.2426G>A,MODERATE,,,unknown(0),1;GIGYF2,missense_variant,p.R808Q,ENST00000409451,NM_001103147.1,c.2423G>A,MODERATE,YES,,unknown(0),1;GIGYF2,missense_variant,p.R787Q,ENST00000373563,NM_001103146.1,c.2360G>A,MODERATE,,,unknown(0),1;GIGYF2,missense_variant,p.R781Q,ENST00000409196,NM_001103148.1,c.2342G>A,MODERATE,,,unknown(0),1;GIGYF2,missense_variant,p.R781Q,ENST00000440945,,c.2342G>A,MODERATE,,deleterious(0.05),unknown(0),1;GIGYF2,downstream_gene_variant,,ENST00000423659,,,MODIFIER,,,,1;GIGYF2,non_coding_transcript_exon_variant,,ENST00000474312,,n.1395G>A,MODIFIER,,,,1;GIGYF2,downstream_gene_variant,,ENST00000482952,,,MODIFIER,,,,1 A ENSG00000204120 ENST00000373563 Transcript missense_variant missense_variant 2555/5847 2360/3900 787/1299 R/Q cGa/cAa GIGYF2 HGNC HGNC:11960 protein_coding CCDS33401.1 ENSP00000362664 Q6Y7W6 UPI00001BD8AE NM_001103146.1 unknown(0) 20/29 Low_complexity_(Seg):Seg;Coiled-coils_(Ncoils):ncoils;PROSITE_profiles:PS50323;PROSITE_profiles:PS50322;PROSITE_profiles:PS50313 MODERATE SNV 1 TGCCCGAAGGA 90d37dff-736a-4cc5-b347-c3560391e123 c6902ad2-5f04-49b5-bfbe-35f0f1cb00fd 0ca48821-c238-4e18-a7aa-a650c3fb5e20 COSM266585 N muse;mutect2;somaticsniper;varscan2 ATP2B2 491 TGen GRCh38 chr3 10402265 10402265 + Missense_Mutation SNP C C G novel MMRF_2214_1_BM_CD138pos_T1_KHS5U_L08691 MMRF_2214_1_PB_Whole_C3_KHS5U_L08690 Somatic 420d2978-45d2-4aad-b72c-db68d37a380c ee2e8e8d-ba25-4c4c-9d0b-87383c2e5e00 c.481G>C p.Val161Leu p.V161L ENST00000352432 3/22 340 242 98 364 ATP2B2,missense_variant,p.V161L,ENST00000397077,,c.481G>C,MODERATE,,deleterious(0),possibly_damaging(0.856),-1;ATP2B2,missense_variant,p.V161L,ENST00000360273,NM_001001331.2,c.481G>C,MODERATE,YES,deleterious(0),probably_damaging(0.996),-1;ATP2B2,missense_variant,p.V161L,ENST00000383800,NM_001683.3,c.481G>C,MODERATE,,deleterious(0),possibly_damaging(0.856),-1;ATP2B2,missense_variant,p.V161L,ENST00000352432,,c.481G>C,MODERATE,,deleterious(0),probably_damaging(0.996),-1;ATP2B2,missense_variant,p.V48L,ENST00000452124,,c.142G>C,MODERATE,,deleterious(0),probably_damaging(0.913),-1;ATP2B2,missense_variant,p.V161L,ENST00000460129,,c.481G>C,MODERATE,,deleterious(0),probably_damaging(0.976),-1;ATP2B2,non_coding_transcript_exon_variant,,ENST00000480680,,n.920G>C,MODIFIER,,,,-1 G ENSG00000157087 ENST00000352432 Transcript missense_variant missense_variant 551/8593 481/3732 161/1243 V/L Gtt/Ctt ATP2B2 HGNC HGNC:815 protein_coding CCDS33701.1 ENSP00000324172 Q01814 A0A024R2K6 UPI00001261EF deleterious(0) probably_damaging(0.996) 3/22 Pfam_domain:PF00122;Transmembrane_helices:Tmhmm;TIGRFAM_domain:TIGR01494;Superfamily_domains:SSF81665 MODERATE SNV 1 GATAACTGAGA 90d37dff-736a-4cc5-b347-c3560391e123 c6902ad2-5f04-49b5-bfbe-35f0f1cb00fd 0ca48821-c238-4e18-a7aa-a650c3fb5e20 N muse;mutect2;somaticsniper;varscan2 CCR5 1234 TGen GRCh38 chr3 46375666 46375666 + 3'UTR DEL G G - novel MMRF_2214_1_BM_CD138pos_T1_KHS5U_L08691 MMRF_2214_1_PB_Whole_C3_KHS5U_L08690 Somatic 420d2978-45d2-4aad-b72c-db68d37a380c ee2e8e8d-ba25-4c4c-9d0b-87383c2e5e00 c.*1712delG ENST00000292303 2/2 60 44 15 44 CCR5,3_prime_UTR_variant,,ENST00000292303,NM_001100168.1&NM_000579.3,c.*1712delG,MODIFIER,YES,,,1;CCR5,downstream_gene_variant,,ENST00000445772,,,MODIFIER,,,,1;RP11-24F11.2,intron_variant,,ENST00000451485,,n.392-4249delC,MODIFIER,YES,,,-1 - ENSG00000160791 ENST00000292303 Transcript 3_prime_UTR_variant 3_prime_UTR_variant 2910/3450 -/1059 -/352 CCR5 HGNC HGNC:1606 protein_coding YES CCDS2739.1 ENSP00000292303 P51681 Q38L21 UPI000000D955 NM_001100168.1;NM_000579.3 2/2 MODIFIER 1 deletion 1 7 GGGGGTGGGGGG 90d37dff-736a-4cc5-b347-c3560391e123 c6902ad2-5f04-49b5-bfbe-35f0f1cb00fd 0ca48821-c238-4e18-a7aa-a650c3fb5e20 N mutect2;varscan2 EPHA6 285220 TGen GRCh38 chr3 96814668 96814668 + Silent SNP G G A MMRF_2214_1_BM_CD138pos_T1_KHS5U_L08691 MMRF_2214_1_PB_Whole_C3_KHS5U_L08690 Somatic 420d2978-45d2-4aad-b72c-db68d37a380c ee2e8e8d-ba25-4c4c-9d0b-87383c2e5e00 c.45G>A p.= p.P15P ENST00000389672 1/18 34 31 3 27 EPHA6,synonymous_variant,p.P15P,ENST00000389672,NM_001080448.2,c.45G>A,LOW,YES,,,1;EPHA6,synonymous_variant,p.P15P,ENST00000470610,,c.45G>A,LOW,,,,1;EPHA6,upstream_gene_variant,,ENST00000506569,NM_001278301.1,,MODIFIER,,,,1 A ENSG00000080224 ENST00000389672 Transcript synonymous_variant synonymous_variant 83/3971 45/3393 15/1130 P ccG/ccA EPHA6 HGNC HGNC:19296 protein_coding YES CCDS46876.1 ENSP00000374323 A0A0B4J1T8 NM_001080448.2 1/18 Low_complexity_(Seg):Seg LOW 1 SNV 2 GCGCCGCAGGC 90d37dff-736a-4cc5-b347-c3560391e123 c6902ad2-5f04-49b5-bfbe-35f0f1cb00fd 0ca48821-c238-4e18-a7aa-a650c3fb5e20 COSM4120603 N muse;mutect2 HGD 3081 TGen GRCh38 chr3 120682249 120682249 + 5'UTR SNP G G A novel MMRF_2214_1_BM_CD138pos_T1_KHS5U_L08691 MMRF_2214_1_PB_Whole_C3_KHS5U_L08690 Somatic 420d2978-45d2-4aad-b72c-db68d37a380c ee2e8e8d-ba25-4c4c-9d0b-87383c2e5e00 c.-138C>T ENST00000283871 1/14 166 101 64 170 HGD,5_prime_UTR_variant,,ENST00000283871,NM_000187.3,c.-138C>T,MODIFIER,YES,,,-1;RABL3,downstream_gene_variant,,ENST00000273375,NM_173825.3,,MODIFIER,YES,,,-1;HGD,upstream_gene_variant,,ENST00000476082,,,MODIFIER,,,,-1;HGD,upstream_gene_variant,,ENST00000488183,,,MODIFIER,,,,-1;HGD,upstream_gene_variant,,ENST00000485313,,,MODIFIER,,,,-1;HGD,non_coding_transcript_exon_variant,,ENST00000480862,,n.21C>T,MODIFIER,,,,-1;HGD,upstream_gene_variant,,ENST00000466528,,,MODIFIER,,,,-1 A ENSG00000113924 ENST00000283871 Transcript 5_prime_UTR_variant 5_prime_UTR_variant 323/2005 -/1338 -/445 HGD HGNC HGNC:4892 protein_coding YES CCDS3000.1 ENSP00000283871 Q93099 UPI000020A025 NM_000187.3 1/14 MODIFIER 1 SNV 1 AGTGCGTCACT 90d37dff-736a-4cc5-b347-c3560391e123 c6902ad2-5f04-49b5-bfbe-35f0f1cb00fd 0ca48821-c238-4e18-a7aa-a650c3fb5e20 N muse;mutect2;somaticsniper;varscan2 RABL3 285282 TGen GRCh38 chr3 120698572 120698572 + Missense_Mutation SNP C C T novel MMRF_2214_1_BM_CD138pos_T1_KHS5U_L08691 MMRF_2214_1_PB_Whole_C3_KHS5U_L08690 Somatic 420d2978-45d2-4aad-b72c-db68d37a380c ee2e8e8d-ba25-4c4c-9d0b-87383c2e5e00 c.385G>A p.Asp129Asn p.D129N ENST00000273375 5/8 102 70 31 140 RABL3,missense_variant,p.D129N,ENST00000273375,NM_173825.3,c.385G>A,MODERATE,YES,tolerated(0.11),benign(0.245),-1;RABL3,missense_variant,p.D129N,ENST00000483733,,c.385G>A,MODERATE,,tolerated(0.19),benign(0.071),-1;RABL3,splice_region_variant,,ENST00000491398,,n.552G>A,LOW,,,,-1;RABL3,splice_region_variant,,ENST00000468192,,n.451G>A,LOW,,,,-1;RABL3,splice_region_variant,,ENST00000485161,,c.*93G>A,LOW,,,,-1;RABL3,intron_variant,,ENST00000473654,,c.384-52G>A,MODIFIER,,,,-1;RABL3,intron_variant,,ENST00000465022,,c.384-4348G>A,MODIFIER,,,,-1;RABL3,intron_variant,,ENST00000481015,,c.*92-4348G>A,MODIFIER,,,,-1 T ENSG00000144840 ENST00000273375 Transcript missense_variant missense_variant;splice_region_variant 415/3883 385/711 129/236 D/N Gat/Aat RABL3 HGNC HGNC:18072 protein_coding YES CCDS3001.1 ENSP00000273375 Q5HYI8 UPI000004C815 NM_173825.3 tolerated(0.11) benign(0.245) 5/8 Pfam_domain:PF00071;SMART_domains:SM00175;Superfamily_domains:SSF52540 MODERATE 1 SNV 1 ATAATCCCTGT 90d37dff-736a-4cc5-b347-c3560391e123 c6902ad2-5f04-49b5-bfbe-35f0f1cb00fd 0ca48821-c238-4e18-a7aa-a650c3fb5e20 N muse;mutect2;somaticsniper;varscan2 SIAH2 6478 TGen GRCh38 chr3 150763295 150763295 + 5'UTR SNP C C T novel MMRF_2214_1_BM_CD138pos_T1_KHS5U_L08691 MMRF_2214_1_PB_Whole_C3_KHS5U_L08690 Somatic 420d2978-45d2-4aad-b72c-db68d37a380c ee2e8e8d-ba25-4c4c-9d0b-87383c2e5e00 c.-446G>A ENST00000312960 1/2 17 11 6 24 SIAH2,5_prime_UTR_variant,,ENST00000312960,NM_005067.5,c.-446G>A,MODIFIER,YES,,,-1;SIAH2,intron_variant,,ENST00000482706,,c.-100+59G>A,MODIFIER,,,,-1;SIAH2-AS1,downstream_gene_variant,,ENST00000461943,,,MODIFIER,YES,,,1;SIAH2,non_coding_transcript_exon_variant,,ENST00000472885,,n.183G>A,MODIFIER,,,,-1 T ENSG00000181788 ENST00000312960 Transcript 5_prime_UTR_variant 5_prime_UTR_variant 83/2517 -/975 -/324 SIAH2 HGNC HGNC:10858 protein_coding YES CCDS3152.1 ENSP00000322457 O43255 UPI0000071280 NM_005067.5 1/2 MODIFIER 1 SNV 1 GGGGCCGCCTA 90d37dff-736a-4cc5-b347-c3560391e123 c6902ad2-5f04-49b5-bfbe-35f0f1cb00fd 0ca48821-c238-4e18-a7aa-a650c3fb5e20 N muse;mutect2 TACC3 10460 TGen GRCh38 chr4 1728027 1728027 + Missense_Mutation SNP G G A novel MMRF_2214_1_BM_CD138pos_T1_KHS5U_L08691 MMRF_2214_1_PB_Whole_C3_KHS5U_L08690 Somatic 420d2978-45d2-4aad-b72c-db68d37a380c ee2e8e8d-ba25-4c4c-9d0b-87383c2e5e00 c.625G>A p.Glu209Lys p.E209K ENST00000313288 4/16 196 98 98 318 TACC3,missense_variant,p.E209K,ENST00000313288,NM_006342.2,c.625G>A,MODERATE,YES,tolerated(0.62),benign(0.093),1;TACC3,missense_variant,p.E209K,ENST00000493975,,c.625G>A,MODERATE,,,,1;TACC3,missense_variant,p.E209K,ENST00000458173,,c.625G>A,MODERATE,,deleterious(0.04),benign(0.093),1;TACC3,intron_variant,,ENST00000612220,,c.306-2361G>A,MODIFIER,,,,1;TACC3,intron_variant,,ENST00000617535,,c.306-2859G>A,MODIFIER,,,,1;TACC3,intron_variant,,ENST00000485989,,c.306-2860G>A,MODIFIER,,,,1;TACC3,upstream_gene_variant,,ENST00000470136,,,MODIFIER,,,,1;TACC3,3_prime_UTR_variant,,ENST00000467746,,c.*459G>A,MODIFIER,,,,1;TACC3,non_coding_transcript_exon_variant,,ENST00000484651,,n.751G>A,MODIFIER,,,,1;TACC3,upstream_gene_variant,,ENST00000466077,,,MODIFIER,,,,1 A ENSG00000013810 ENST00000313288 Transcript missense_variant missense_variant 731/2781 625/2517 209/838 E/K Gag/Aag TACC3 HGNC HGNC:11524 protein_coding YES CCDS3352.1 ENSP00000326550 Q9Y6A5 UPI0000136869 NM_006342.2 tolerated(0.62) benign(0.093) 4/16 MODERATE 1 SNV 1 GGACAGAGTCC 90d37dff-736a-4cc5-b347-c3560391e123 c6902ad2-5f04-49b5-bfbe-35f0f1cb00fd 0ca48821-c238-4e18-a7aa-a650c3fb5e20 N muse;mutect2;somaticsniper;varscan2 TMEM33 55161 TGen GRCh38 chr4 41957145 41957145 + 3'UTR SNP G G A novel MMRF_2214_1_BM_CD138pos_T1_KHS5U_L08691 MMRF_2214_1_PB_Whole_C3_KHS5U_L08690 Somatic 420d2978-45d2-4aad-b72c-db68d37a380c ee2e8e8d-ba25-4c4c-9d0b-87383c2e5e00 c.*2946G>A ENST00000325094 7/8 36 21 14 74 TMEM33,3_prime_UTR_variant,,ENST00000504986,NM_018126.2,c.*2946G>A,MODIFIER,YES,,,1;TMEM33,3_prime_UTR_variant,,ENST00000325094,,c.*2946G>A,MODIFIER,,,,1;TMEM33,downstream_gene_variant,,ENST00000513702,,,MODIFIER,,,,1;TMEM33,downstream_gene_variant,,ENST00000508448,,,MODIFIER,,,,1;TMEM33,downstream_gene_variant,,ENST00000513558,,,MODIFIER,,,,1;TMEM33,downstream_gene_variant,,ENST00000264452,,,MODIFIER,,,,1 A ENSG00000109133 ENST00000325094 Transcript 3_prime_UTR_variant 3_prime_UTR_variant 4023/6221 -/744 -/247 TMEM33 HGNC HGNC:25541 protein_coding CCDS3464.1 ENSP00000441455 P57088 A0A024R9W7 UPI000004C095 7/8 MODIFIER SNV 1 TGGAAGCCTTA 90d37dff-736a-4cc5-b347-c3560391e123 c6902ad2-5f04-49b5-bfbe-35f0f1cb00fd 0ca48821-c238-4e18-a7aa-a650c3fb5e20 N muse;mutect2;somaticsniper;varscan2 CCDC158 339965 TGen GRCh38 chr4 76323382 76323382 + Missense_Mutation SNP G G A novel MMRF_2214_1_BM_CD138pos_T1_KHS5U_L08691 MMRF_2214_1_PB_Whole_C3_KHS5U_L08690 Somatic 420d2978-45d2-4aad-b72c-db68d37a380c ee2e8e8d-ba25-4c4c-9d0b-87383c2e5e00 c.3185C>T p.Thr1062Ile p.T1062I ENST00000388914 23/24 176 94 82 305 CCDC158,missense_variant,p.T1062I,ENST00000388914,NM_001042784.1,c.3185C>T,MODERATE,YES,deleterious(0),probably_damaging(0.994),-1;CCDC158,non_coding_transcript_exon_variant,,ENST00000504667,,n.3063C>T,MODIFIER,,,,-1 A ENSG00000163749 ENST00000388914 Transcript missense_variant missense_variant 3338/3663 3185/3342 1062/1113 T/I aCa/aTa CCDC158 HGNC HGNC:26374 protein_coding YES CCDS43242.1 ENSP00000373566 Q5M9N0 UPI00004DF23B NM_001042784.1 deleterious(0) probably_damaging(0.994) 23/24 MODERATE 1 SNV 5 TTCCTGTTGTT 90d37dff-736a-4cc5-b347-c3560391e123 c6902ad2-5f04-49b5-bfbe-35f0f1cb00fd 0ca48821-c238-4e18-a7aa-a650c3fb5e20 N muse;mutect2;somaticsniper;varscan2 CCSER1 401145 TGen GRCh38 chr4 90781698 90781698 + Intron SNP A A C novel MMRF_2214_1_BM_CD138pos_T1_KHS5U_L08691 MMRF_2214_1_PB_Whole_C3_KHS5U_L08690 Somatic 420d2978-45d2-4aad-b72c-db68d37a380c ee2e8e8d-ba25-4c4c-9d0b-87383c2e5e00 c.2011-34064A>C ENST00000509176 66 30 36 110 CCSER1,3_prime_UTR_variant,,ENST00000432775,NM_207491.2,c.*1233A>C,MODIFIER,,,,1;CCSER1,intron_variant,,ENST00000509176,NM_001145065.1,c.2011-34064A>C,MODIFIER,YES,,,1;CCSER1,intron_variant,,ENST00000503421,,c.70-34064A>C,MODIFIER,,,,1;CCSER1,downstream_gene_variant,,ENST00000504150,,,MODIFIER,,,,1;CCSER1,intron_variant,,ENST00000505073,,c.*110-34064A>C,MODIFIER,,,,1;CCSER1,intron_variant,,ENST00000509109,,c.70-34064A>C,MODIFIER,,,,1;CCSER1,intron_variant,,ENST00000513522,,c.287-34064A>C,MODIFIER,,,,1;CCSER1,downstream_gene_variant,,ENST00000510519,,,MODIFIER,,,,1 C ENSG00000184305 ENST00000509176 Transcript intron_variant intron_variant -/5847 -/2703 -/900 CCSER1 HGNC HGNC:29349 protein_coding YES CCDS47099.1 ENSP00000425040 Q9C0I3 UPI00005A6104 NM_001145065.1 7/10 MODIFIER 1 SNV 1 ATAAAAATATC 90d37dff-736a-4cc5-b347-c3560391e123 c6902ad2-5f04-49b5-bfbe-35f0f1cb00fd 0ca48821-c238-4e18-a7aa-a650c3fb5e20 N muse;mutect2;somaticsniper;varscan2 OTUD4 54726 TGen GRCh38 chr4 145155646 145155646 + Missense_Mutation SNP G G C novel MMRF_2214_1_BM_CD138pos_T1_KHS5U_L08691 MMRF_2214_1_PB_Whole_C3_KHS5U_L08690 Somatic 420d2978-45d2-4aad-b72c-db68d37a380c ee2e8e8d-ba25-4c4c-9d0b-87383c2e5e00 c.731C>G p.Ser244Cys p.S244C ENST00000447906 9/21 49 23 26 89 OTUD4,missense_variant,p.S179C,ENST00000454497,NM_001102653.1,c.536C>G,MODERATE,YES,deleterious(0),probably_damaging(0.917),-1;OTUD4,missense_variant,p.S244C,ENST00000447906,,c.731C>G,MODERATE,,deleterious(0),probably_damaging(0.917),-1;OTUD4,missense_variant,p.S178C,ENST00000514973,,c.533C>G,MODERATE,,deleterious(0),possibly_damaging(0.885),-1;OTUD4,downstream_gene_variant,,ENST00000509620,NM_017493.6,,MODIFIER,,,,-1;OTUD4,downstream_gene_variant,,ENST00000504501,,,MODIFIER,,,,-1;OTUD4,non_coding_transcript_exon_variant,,ENST00000455611,,n.635C>G,MODIFIER,,,,-1;OTUD4,downstream_gene_variant,,ENST00000505976,,,MODIFIER,,,,-1;OTUD4,downstream_gene_variant,,ENST00000509985,,,MODIFIER,,,,-1;OTUD4,upstream_gene_variant,,ENST00000509517,,,MODIFIER,,,,-1 C ENSG00000164164 ENST00000447906 Transcript missense_variant missense_variant 919/3829 731/3345 244/1114 S/C tCt/tGt OTUD4 HGNC HGNC:24949 protein_coding ENSP00000395487 Q01804 UPI0000E825C1 deleterious(0) probably_damaging(0.917) 9/21 MODERATE SNV 5 TTCTAGACAAA 90d37dff-736a-4cc5-b347-c3560391e123 c6902ad2-5f04-49b5-bfbe-35f0f1cb00fd 0ca48821-c238-4e18-a7aa-a650c3fb5e20 N muse;mutect2;somaticsniper;varscan2 SEMA5A 9037 TGen GRCh38 chr5 9202048 9202048 + Missense_Mutation SNP C C A novel MMRF_2214_1_BM_CD138pos_T1_KHS5U_L08691 MMRF_2214_1_PB_Whole_C3_KHS5U_L08690 Somatic 420d2978-45d2-4aad-b72c-db68d37a380c ee2e8e8d-ba25-4c4c-9d0b-87383c2e5e00 c.839G>T p.Arg280Leu p.R280L ENST00000382496 9/23 127 78 49 125 SEMA5A,missense_variant,p.R280L,ENST00000382496,NM_003966.2,c.839G>T,MODERATE,YES,tolerated(0.3),benign(0.047),-1;SEMA5A,downstream_gene_variant,,ENST00000513968,,,MODIFIER,,,,-1;SEMA5A,downstream_gene_variant,,ENST00000514923,,,MODIFIER,,,,-1 A ENSG00000112902 ENST00000382496 Transcript missense_variant missense_variant 1505/11762 839/3225 280/1074 R/L cGt/cTt SEMA5A HGNC HGNC:10736 protein_coding YES CCDS3875.1 ENSP00000371936 Q13591 X5DR95 UPI000004F25D NM_003966.2 tolerated(0.3) benign(0.047) 9/23 Pfam_domain:PF01403;PROSITE_profiles:PS51004;SMART_domains:SM00630;Superfamily_domains:SSF101912 MODERATE 1 SNV 1 CAGGACGGGAG 90d37dff-736a-4cc5-b347-c3560391e123 c6902ad2-5f04-49b5-bfbe-35f0f1cb00fd 0ca48821-c238-4e18-a7aa-a650c3fb5e20 N muse;mutect2;somaticsniper;varscan2 CCT5 22948 TGen GRCh38 chr5 10265745 10265745 + 3'UTR SNP G G A novel MMRF_2214_1_BM_CD138pos_T1_KHS5U_L08691 MMRF_2214_1_PB_Whole_C3_KHS5U_L08690 Somatic 420d2978-45d2-4aad-b72c-db68d37a380c ee2e8e8d-ba25-4c4c-9d0b-87383c2e5e00 c.*962G>A ENST00000280326 11/11 56 18 38 40 CCT5,3_prime_UTR_variant,,ENST00000280326,NM_012073.3,c.*962G>A,MODIFIER,YES,,,1;CCT5,downstream_gene_variant,,ENST00000515676,,,MODIFIER,,,,1;CCT5,downstream_gene_variant,,ENST00000506600,,,MODIFIER,,,,1;CCT5,downstream_gene_variant,,ENST00000503026,,,MODIFIER,,,,1;CCT5,downstream_gene_variant,,ENST00000515390,,,MODIFIER,,,,1;CTD-2256P15.5,downstream_gene_variant,,ENST00000607847,,,MODIFIER,YES,,,-1;CTD-2256P15.4,non_coding_transcript_exon_variant,,ENST00000606194,,n.1402C>T,MODIFIER,YES,,,-1;CCT5,downstream_gene_variant,,ENST00000423695,,,MODIFIER,,,,1;CCT5,downstream_gene_variant,,ENST00000511995,,,MODIFIER,,,,1;CCT5,downstream_gene_variant,,ENST00000512975,,,MODIFIER,,,,1;CCT5,downstream_gene_variant,,ENST00000509846,,,MODIFIER,,,,1 A ENSG00000150753 ENST00000280326 Transcript 3_prime_UTR_variant 3_prime_UTR_variant 3008/3675 -/1626 -/541 CCT5 HGNC HGNC:1618 protein_coding YES CCDS3877.1 ENSP00000280326 P48643 V9HW37 UPI0000001C34 NM_012073.3 11/11 MODIFIER 1 SNV 1 AGTCTGACCCC 90d37dff-736a-4cc5-b347-c3560391e123 c6902ad2-5f04-49b5-bfbe-35f0f1cb00fd 0ca48821-c238-4e18-a7aa-a650c3fb5e20 N muse;mutect2;somaticsniper;varscan2 MROH2B 133558 TGen GRCh38 chr5 41049385 41049385 + Missense_Mutation SNP C C A novel MMRF_2214_1_BM_CD138pos_T1_KHS5U_L08691 MMRF_2214_1_PB_Whole_C3_KHS5U_L08690 Somatic 420d2978-45d2-4aad-b72c-db68d37a380c ee2e8e8d-ba25-4c4c-9d0b-87383c2e5e00 c.1396G>T p.Ala466Ser p.A466S ENST00000399564 14/42 62 21 41 71 MROH2B,missense_variant,p.A466S,ENST00000399564,NM_173489.4,c.1396G>T,MODERATE,YES,deleterious(0.01),possibly_damaging(0.506),-1;MROH2B,missense_variant,p.A21S,ENST00000506092,,c.61G>T,MODERATE,,deleterious(0.01),possibly_damaging(0.506),-1;MROH2B,non_coding_transcript_exon_variant,,ENST00000515297,,n.784G>T,MODIFIER,,,,-1;MROH2B,non_coding_transcript_exon_variant,,ENST00000503890,,n.220G>T,MODIFIER,,,,-1;MROH2B,non_coding_transcript_exon_variant,,ENST00000508575,,n.1886G>T,MODIFIER,,,,-1 A ENSG00000171495 ENST00000399564 Transcript missense_variant missense_variant 1847/5239 1396/4758 466/1585 A/S Gct/Tct MROH2B HGNC HGNC:26857 protein_coding YES CCDS47202.1 ENSP00000382476 Q7Z745 UPI000020CA04 NM_173489.4 deleterious(0.01) possibly_damaging(0.506) 14/42 Superfamily_domains:SSF48371 MODERATE 1 SNV 1 CAGAGCTTCTG 90d37dff-736a-4cc5-b347-c3560391e123 c6902ad2-5f04-49b5-bfbe-35f0f1cb00fd 0ca48821-c238-4e18-a7aa-a650c3fb5e20 N somaticsniper;varscan2 ISL1 3670 TGen GRCh38 chr5 51394150 51394150 + 3'UTR SNP T T C novel MMRF_2214_1_BM_CD138pos_T1_KHS5U_L08691 MMRF_2214_1_PB_Whole_C3_KHS5U_L08690 Somatic 420d2978-45d2-4aad-b72c-db68d37a380c ee2e8e8d-ba25-4c4c-9d0b-87383c2e5e00 c.*540T>C ENST00000230658 6/6 70 43 26 91 ISL1,3_prime_UTR_variant,,ENST00000230658,NM_002202.2,c.*540T>C,MODIFIER,YES,,,1;ISL1,downstream_gene_variant,,ENST00000511384,,,MODIFIER,,,,1;ISL1,downstream_gene_variant,,ENST00000505475,,,MODIFIER,,,,1 C ENSG00000016082 ENST00000230658 Transcript 3_prime_UTR_variant 3_prime_UTR_variant 1871/2459 -/1050 -/349 ISL1 HGNC HGNC:6132 protein_coding YES CCDS43314.1 ENSP00000230658 P61371 UPI0000023E3A NM_002202.2 6/6 MODIFIER 1 SNV 1 AGGGGTTAATT 90d37dff-736a-4cc5-b347-c3560391e123 c6902ad2-5f04-49b5-bfbe-35f0f1cb00fd 0ca48821-c238-4e18-a7aa-a650c3fb5e20 N muse;mutect2;somaticsniper;varscan2 SH3PXD2B 285590 TGen GRCh38 chr5 172335363 172335363 + 3'UTR SNP G G A rs539299765 by1000G;byFrequency MMRF_2214_1_BM_CD138pos_T1_KHS5U_L08691 MMRF_2214_1_PB_Whole_C3_KHS5U_L08690 Somatic 420d2978-45d2-4aad-b72c-db68d37a380c ee2e8e8d-ba25-4c4c-9d0b-87383c2e5e00 c.*3006C>T ENST00000311601 13/13 111 76 35 121 SH3PXD2B,3_prime_UTR_variant,,ENST00000311601,NM_001017995.2,c.*3006C>T,MODIFIER,YES,,,-1;SH3PXD2B,intron_variant,,ENST00000519643,,c.1189-9983C>T,MODIFIER,,,,-1;SH3PXD2B,intron_variant,,ENST00000518522,,c.201-1594C>T,MODIFIER,,,,-1;SH3PXD2B,upstream_gene_variant,,ENST00000523651,,,MODIFIER,,,,-1 A ENSG00000174705 ENST00000311601 Transcript 3_prime_UTR_variant 3_prime_UTR_variant 5913/7777 -/2736 -/911 rs539299765 SH3PXD2B HGNC HGNC:29242 protein_coding YES CCDS34291.1 ENSP00000309714 A1X283 UPI000020C12E NM_001017995.2 13/13 0.0 0.0 0.0 0.0 0.0031 MODIFIER 1 SNV 1 TCCCTGGAAGC 90d37dff-736a-4cc5-b347-c3560391e123 c6902ad2-5f04-49b5-bfbe-35f0f1cb00fd 0ca48821-c238-4e18-a7aa-a650c3fb5e20 N muse;mutect2;somaticsniper;varscan2 CASC15 401237 TGen GRCh38 chr6 22146963 22146963 + 5'Flank SNP G G A rs562156523 by1000G;byFrequency MMRF_2214_1_BM_CD138pos_T1_KHS5U_L08691 MMRF_2214_1_PB_Whole_C3_KHS5U_L08690 Somatic 420d2978-45d2-4aad-b72c-db68d37a380c ee2e8e8d-ba25-4c4c-9d0b-87383c2e5e00 ENST00000605917 9 1 8 14 CASC15,non_coding_transcript_exon_variant,,ENST00000606197,,n.310G>A,MODIFIER,,,,1;NBAT1,intron_variant,,ENST00000566912,,n.154+77C>T,MODIFIER,YES,,,-1;CASC15,intron_variant,,ENST00000606851,,n.1392-27035G>A,MODIFIER,,,,1;CASC15,intron_variant,,ENST00000607048,,n.1139-27035G>A,MODIFIER,,,,1;CASC15,intron_variant,,ENST00000444265,,n.1061+36043G>A,MODIFIER,,,,1;CASC15,upstream_gene_variant,,ENST00000605917,,,MODIFIER,YES,,,1 A ENSG00000272168 ENST00000605917 Transcript upstream_gene_variant upstream_gene_variant -/4461 rs562156523 245 CASC15 HGNC HGNC:28245 lincRNA YES 0.0004 0.0015 0.0 0.0 0.0 0.0 MODIFIER SNV CGGCCGCGTGC 90d37dff-736a-4cc5-b347-c3560391e123 c6902ad2-5f04-49b5-bfbe-35f0f1cb00fd 0ca48821-c238-4e18-a7aa-a650c3fb5e20 N muse;somaticsniper;varscan2 RPS18 6222 TGen GRCh38 chr6 33272184 33272184 + Intron SNP G G A novel MMRF_2214_1_BM_CD138pos_T1_KHS5U_L08691 MMRF_2214_1_PB_Whole_C3_KHS5U_L08690 Somatic 420d2978-45d2-4aad-b72c-db68d37a380c ee2e8e8d-ba25-4c4c-9d0b-87383c2e5e00 c.3+62G>A ENST00000439602 252 146 106 292 RPS18,intron_variant,,ENST00000439602,NM_022551.2,c.3+62G>A,MODIFIER,YES,,,1;RPS18,intron_variant,,ENST00000474973,,c.-249+62G>A,MODIFIER,,,,1;VPS52,upstream_gene_variant,,ENST00000482399,,,MODIFIER,,,,-1;VPS52,upstream_gene_variant,,ENST00000445902,NM_001289175.1&NM_001289174.1&NM_022553.5,,MODIFIER,YES,,,-1;B3GALT4,upstream_gene_variant,,ENST00000451237,NM_003782.3,,MODIFIER,YES,,,1;RPS18,intron_variant,,ENST00000476222,,n.27+62G>A,MODIFIER,,,,1;VPS52,upstream_gene_variant,,ENST00000478934,,,MODIFIER,,,,-1;VPS52,upstream_gene_variant,,ENST00000464425,,,MODIFIER,,,,-1;VPS52,upstream_gene_variant,,ENST00000463486,,,MODIFIER,,,,-1;RPS18,non_coding_transcript_exon_variant,,ENST00000490191,,n.53G>A,MODIFIER,,,,1;RPS18,intron_variant,,ENST00000496813,,n.24+62G>A,MODIFIER,,,,1;RPS18,intron_variant,,ENST00000474626,,n.35+62G>A,MODIFIER,,,,1;RPS18,upstream_gene_variant,,ENST00000472218,,,MODIFIER,,,,1;VPS52,upstream_gene_variant,,ENST00000493379,,,MODIFIER,,,,-1;VPS52,upstream_gene_variant,,ENST00000495755,,,MODIFIER,,,,-1;RPS18,upstream_gene_variant,,ENST00000479802,,,MODIFIER,,,,1 A ENSG00000231500 ENST00000439602 Transcript intron_variant intron_variant -/613 -/459 -/152 RPS18 HGNC HGNC:10401 protein_coding YES CCDS4771.1 ENSP00000393241 P62269 UPI00000040B5 NM_022551.2 1/5 MODIFIER 1 SNV 1 CGGCTGTCAGG 90d37dff-736a-4cc5-b347-c3560391e123 c6902ad2-5f04-49b5-bfbe-35f0f1cb00fd 0ca48821-c238-4e18-a7aa-a650c3fb5e20 N muse;mutect2;somaticsniper;varscan2 TRDN 10345 TGen GRCh38 chr6 123217022 123217022 + 3'UTR SNP G G A novel MMRF_2214_1_BM_CD138pos_T1_KHS5U_L08691 MMRF_2214_1_PB_Whole_C3_KHS5U_L08690 Somatic 420d2978-45d2-4aad-b72c-db68d37a380c ee2e8e8d-ba25-4c4c-9d0b-87383c2e5e00 c.*1579C>T ENST00000334268 41/41 28 2 26 90 TRDN,3_prime_UTR_variant,,ENST00000334268,NM_006073.3,c.*1579C>T,MODIFIER,,,,-1 A ENSG00000186439 ENST00000334268 Transcript 3_prime_UTR_variant 3_prime_UTR_variant 4087/4770 -/2190 -/729 TRDN HGNC HGNC:12261 protein_coding ENSP00000333984 Q5SWK9 NM_006073.3 41/41 MODIFIER 1 SNV 5 GAAGGGGCTTT 90d37dff-736a-4cc5-b347-c3560391e123 c6902ad2-5f04-49b5-bfbe-35f0f1cb00fd 0ca48821-c238-4e18-a7aa-a650c3fb5e20 N muse;mutect2;somaticsniper;varscan2 NCOA7 135112 TGen GRCh38 chr6 125928231 125928231 + Nonsense_Mutation SNP G G T novel MMRF_2214_1_BM_CD138pos_T1_KHS5U_L08691 MMRF_2214_1_PB_Whole_C3_KHS5U_L08690 Somatic 420d2978-45d2-4aad-b72c-db68d37a380c ee2e8e8d-ba25-4c4c-9d0b-87383c2e5e00 c.2677G>T p.Glu893Ter p.E893* ENST00000368357 16/17 29 19 10 63 NCOA7,stop_gained,p.E893*,ENST00000392477,NM_001122842.2&NM_181782.4,c.2677G>T,HIGH,YES,,,1;NCOA7,stop_gained,p.E893*,ENST00000368357,NM_001199620.1&NM_001199619.1,c.2677G>T,HIGH,,,,1;NCOA7,stop_gained,p.E188*,ENST00000438495,NM_001199622.1,c.560G>T,HIGH,,,,1;NCOA7,stop_gained,p.E778*,ENST00000229634,NM_001199621.1,c.2332G>T,HIGH,,,,1;NCOA7,intron_variant,,ENST00000444128,,c.503-405G>T,MODIFIER,,,,1;NCOA7,downstream_gene_variant,,ENST00000433571,,,MODIFIER,,,,1 T ENSG00000111912 ENST00000368357 Transcript stop_gained stop_gained 3029/5521 2677/2829 893/942 E/* Gaa/Taa NCOA7 HGNC HGNC:21081 protein_coding CCDS5132.1 ENSP00000357341 Q8NI08 UPI00001AE66D NM_001199620.1;NM_001199619.1 16/17 Low_complexity_(Seg):Seg;Pfam_domain:PF07534;SMART_domains:SM00584 HIGH SNV 1 CTTTAGAACTT 90d37dff-736a-4cc5-b347-c3560391e123 c6902ad2-5f04-49b5-bfbe-35f0f1cb00fd 0ca48821-c238-4e18-a7aa-a650c3fb5e20 N muse;mutect2;somaticsniper;varscan2 PLG 5340 TGen GRCh38 chr6 160753082 160753082 + 3'UTR SNP C C T rs756939818 byFrequency MMRF_2214_1_BM_CD138pos_T1_KHS5U_L08691 MMRF_2214_1_PB_Whole_C3_KHS5U_L08690 Somatic 420d2978-45d2-4aad-b72c-db68d37a380c ee2e8e8d-ba25-4c4c-9d0b-87383c2e5e00 c.*21C>T ENST00000308192 19/19 96 66 30 285 PLG,3_prime_UTR_variant,,ENST00000308192,NM_000301.3,c.*21C>T,MODIFIER,YES,,,1;PLG,non_coding_transcript_exon_variant,,ENST00000461414,,n.428C>T,MODIFIER,,,,1;PLG,downstream_gene_variant,,ENST00000467466,,,MODIFIER,,,,1;RP1-81D8.5,downstream_gene_variant,,ENST00000612111,,,MODIFIER,YES,,,-1 T ENSG00000122194 ENST00000308192 Transcript 3_prime_UTR_variant 3_prime_UTR_variant 2517/2741 -/2433 -/810 rs756939818 PLG HGNC HGNC:9071 protein_coding YES CCDS5279.1 ENSP00000308938 P00747 UPI000000D8B8 NM_000301.3 19/19 MODIFIER 1 SNV 1 2.552e-05 3.999e-05 0.0 0.0 0.0 0.0 7.369e-05 0.0 0.0 2.9216984807167902e-05 4.955401387512388e-05 0.0 0.0 0.0 0.0 0.00010369141435089174 0.0 0.0 AGTGACGCACT 90d37dff-736a-4cc5-b347-c3560391e123 c6902ad2-5f04-49b5-bfbe-35f0f1cb00fd 0ca48821-c238-4e18-a7aa-a650c3fb5e20 N muse;mutect2;varscan2 IQCE 23288 TGen GRCh38 chr7 2590022 2590022 + Missense_Mutation SNP A A G rs776623235 MMRF_2214_1_BM_CD138pos_T1_KHS5U_L08691 MMRF_2214_1_PB_Whole_C3_KHS5U_L08690 Somatic 420d2978-45d2-4aad-b72c-db68d37a380c ee2e8e8d-ba25-4c4c-9d0b-87383c2e5e00 c.1160A>G p.Asn387Ser p.N387S ENST00000402050 14/22 54 32 21 93 IQCE,missense_variant,p.N387S,ENST00000402050,NM_152558.4,c.1160A>G,MODERATE,,tolerated(0.77),benign(0),1;IQCE,missense_variant,p.N322S,ENST00000623361,NM_001287502.1&NM_001287501.1,c.965A>G,MODERATE,,tolerated(0.77),benign(0),1;IQCE,missense_variant,p.N387S,ENST00000476665,NM_001287499.1,c.1160A>G,MODERATE,YES,tolerated(0.78),benign(0.001),1;IQCE,missense_variant,p.N371S,ENST00000611775,NM_001287500.1,c.1112A>G,MODERATE,,tolerated(0.78),benign(0.002),1;IQCE,missense_variant,p.N322S,ENST00000325979,,c.965A>G,MODERATE,,tolerated(0.77),benign(0),1;IQCE,missense_variant,p.N371S,ENST00000438376,,c.1112A>G,MODERATE,,tolerated(0.78),benign(0.001),1;IQCE,missense_variant,p.N336S,ENST00000404984,,c.1007A>G,MODERATE,,tolerated(0.77),benign(0),1;IQCE,downstream_gene_variant,,ENST00000427817,,,MODIFIER,,,,1;IQCE,3_prime_UTR_variant,,ENST00000325997,,c.*937A>G,MODIFIER,,,,1;IQCE,non_coding_transcript_exon_variant,,ENST00000470731,,n.1294A>G,MODIFIER,,,,1;IQCE,non_coding_transcript_exon_variant,,ENST00000490913,,n.118A>G,MODIFIER,,,,1 G ENSG00000106012 ENST00000402050 Transcript missense_variant missense_variant 1344/6844 1160/2088 387/695 N/S aAc/aGc rs776623235 IQCE HGNC HGNC:29171 protein_coding CCDS43542.1 ENSP00000385597 Q6IPM2 UPI000020E9EF NM_152558.4 tolerated(0.77) benign(0) 14/22 MODERATE SNV 1 8.264e-06 8.371e-06 0.0 0.0 0.0 0.0001512 0.0 0.0 0.0 9.450545296463605e-06 9.522358497752724e-06 0.0 0.0 0.0 0.00015119443604475356 0.0 0.0 0.0 CCGCAACAAGG 90d37dff-736a-4cc5-b347-c3560391e123 c6902ad2-5f04-49b5-bfbe-35f0f1cb00fd 0ca48821-c238-4e18-a7aa-a650c3fb5e20 N muse;mutect2;somaticsniper;varscan2 PTPRZ1 5803 TGen GRCh38 chr7 122061946 122061946 + 3'UTR SNP G G C novel MMRF_2214_1_BM_CD138pos_T1_KHS5U_L08691 MMRF_2214_1_PB_Whole_C3_KHS5U_L08690 Somatic 420d2978-45d2-4aad-b72c-db68d37a380c ee2e8e8d-ba25-4c4c-9d0b-87383c2e5e00 c.*726G>C ENST00000393386 30/30 43 22 21 92 PTPRZ1,3_prime_UTR_variant,,ENST00000393386,NM_001206838.1&NM_002851.2,c.*726G>C,MODIFIER,YES,,,1;PTPRZ1,downstream_gene_variant,,ENST00000449182,NM_001206839.1,,MODIFIER,,,,1;PTPRZ1,downstream_gene_variant,,ENST00000474500,,,MODIFIER,,,,1 C ENSG00000106278 ENST00000393386 Transcript 3_prime_UTR_variant 3_prime_UTR_variant 8085/8175 -/6948 -/2315 PTPRZ1 HGNC HGNC:9685 protein_coding YES CCDS34740.1 ENSP00000377047 P23471 UPI000020F9BB NM_001206838.1;NM_002851.2 30/30 MODIFIER 1 SNV 1 TGAAAGAAGTT 90d37dff-736a-4cc5-b347-c3560391e123 c6902ad2-5f04-49b5-bfbe-35f0f1cb00fd 0ca48821-c238-4e18-a7aa-a650c3fb5e20 N muse;mutect2;somaticsniper;varscan2 EPHA1 2041 TGen GRCh38 chr7 143401475 143401475 + Missense_Mutation SNP C C T rs45447297 by1000G;byCluster MMRF_2214_1_BM_CD138pos_T1_KHS5U_L08691 MMRF_2214_1_PB_Whole_C3_KHS5U_L08690 Somatic 420d2978-45d2-4aad-b72c-db68d37a380c ee2e8e8d-ba25-4c4c-9d0b-87383c2e5e00 c.281G>A p.Arg94His p.R94H ENST00000275815 3/18 66 38 28 121 EPHA1,missense_variant,p.R94H,ENST00000275815,NM_005232.4,c.281G>A,MODERATE,YES,deleterious(0.01),benign(0.068),-1;EPHA1,non_coding_transcript_exon_variant,,ENST00000488068,,n.281G>A,MODIFIER,,,,-1;EPHA1,non_coding_transcript_exon_variant,,ENST00000497891,,n.171G>A,MODIFIER,,,,-1;EPHA1,upstream_gene_variant,,ENST00000494989,,,MODIFIER,,,,-1;EPHA1,upstream_gene_variant,,ENST00000479459,,,MODIFIER,,,,-1 T ENSG00000146904 ENST00000275815 Transcript missense_variant missense_variant 368/3363 281/2931 94/976 R/H cGc/cAc rs45447297 EPHA1 HGNC HGNC:3385 protein_coding YES CCDS5884.1 ENSP00000275815 P21709 UPI000013DA82 NM_005232.4 deleterious(0.01) benign(0.068) 3/18 Pfam_domain:PF01404;SMART_domains:SM00615;Superfamily_domains:SSF49785;PIRSF_domain:PIRSF000666 0.0002 0.0 0.0 0.0 0.001 0.0 0.0 0.0005 MODERATE 1 SNV 1 9.06e-05 9.095e-05 0.0 0.0 0.0 0.0 0.0001657 0.0 0.0 9.415309292910272e-05 9.423116790109496e-05 0.0 0.0 0.0 0.0 0.00018416884599801097 0.0 0.0 GGACGCGGGAA 90d37dff-736a-4cc5-b347-c3560391e123 c6902ad2-5f04-49b5-bfbe-35f0f1cb00fd 0ca48821-c238-4e18-a7aa-a650c3fb5e20 N muse;mutect2;somaticsniper;varscan2 CRYGN 155051 TGen GRCh38 chr7 151438065 151438065 + Silent SNP G G A rs763283061 byFrequency MMRF_2214_1_BM_CD138pos_T1_KHS5U_L08691 MMRF_2214_1_PB_Whole_C3_KHS5U_L08690 Somatic 420d2978-45d2-4aad-b72c-db68d37a380c ee2e8e8d-ba25-4c4c-9d0b-87383c2e5e00 c.201C>T p.= p.G67G ENST00000337323 2/4 102 54 48 170 CRYGN,synonymous_variant,p.G67G,ENST00000337323,NM_144727.1,c.201C>T,LOW,YES,,,-1;CRYGN,synonymous_variant,p.G67G,ENST00000491928,,c.201C>T,LOW,,,,-1;MIR3907,upstream_gene_variant,,ENST00000579424,,,MODIFIER,YES,,,-1;RP4-555L14.4,intron_variant,,ENST00000465549,,n.271-766G>A,MODIFIER,YES,,,1;CRYGN,non_coding_transcript_exon_variant,,ENST00000476631,,n.649C>T,MODIFIER,,,,-1;CRYGN,upstream_gene_variant,,ENST00000462809,,,MODIFIER,,,,-1;CRYGN,upstream_gene_variant,,ENST00000478106,,,MODIFIER,,,,-1 A ENSG00000127377 ENST00000337323 Transcript synonymous_variant synonymous_variant 328/754 201/549 67/182 G ggC/ggT rs763283061 CRYGN HGNC HGNC:20458 protein_coding YES CCDS5926.1 ENSP00000338613 Q8WXF5 A0A090N8I5 UPI000006F59A NM_144727.1 2/4 Pfam_domain:PF00030;Prints_domain:PR01367;PROSITE_profiles:PS50915;SMART_domains:SM00247;Superfamily_domains:SSF49695 LOW 1 SNV 1 2.471e-05 2.48e-05 0.0 0.0 0.0 0.0 4.518e-05 0.0 0.0 2.8245927878730815e-05 2.8274679082392414e-05 0.0 0.0 0.0 0.0 5.526693931690063e-05 0.0 0.0 TAGTCGCCGTG 90d37dff-736a-4cc5-b347-c3560391e123 c6902ad2-5f04-49b5-bfbe-35f0f1cb00fd 0ca48821-c238-4e18-a7aa-a650c3fb5e20 COSM3262181 N muse;mutect2;somaticsniper;varscan2 VPS37A 137492 TGen GRCh38 chr8 17280078 17280078 + Missense_Mutation SNP A A C novel MMRF_2214_1_BM_CD138pos_T1_KHS5U_L08691 MMRF_2214_1_PB_Whole_C3_KHS5U_L08690 Somatic 420d2978-45d2-4aad-b72c-db68d37a380c ee2e8e8d-ba25-4c4c-9d0b-87383c2e5e00 c.764A>C p.Gln255Pro p.Q255P ENST00000324849 7/12 18 7 11 38 VPS37A,missense_variant,p.Q255P,ENST00000324849,NM_152415.2,c.764A>C,MODERATE,YES,tolerated(0.21),benign(0.001),1;VPS37A,missense_variant,p.Q230P,ENST00000521829,NM_001145152.1,c.689A>C,MODERATE,,tolerated(0.2),benign(0.008),1;VPS37A,missense_variant,p.Q28P,ENST00000521976,,c.83A>C,MODERATE,,tolerated(0.2),benign(0.001),1;VPS37A,3_prime_UTR_variant,,ENST00000425020,,c.*234A>C,MODIFIER,,,,1;VPS37A,3_prime_UTR_variant,,ENST00000520140,,c.*116A>C,MODIFIER,,,,1 C ENSG00000155975 ENST00000324849 Transcript missense_variant missense_variant 1438/4906 764/1194 255/397 Q/P cAg/cCg VPS37A HGNC HGNC:24928 protein_coding YES CCDS6001.1 ENSP00000318629 Q8NEZ2 UPI0000039EC3 NM_152415.2 tolerated(0.21) benign(0.001) 7/12 Pfam_domain:PF07200 MODERATE 1 SNV 1 AGAACAGTTTC 90d37dff-736a-4cc5-b347-c3560391e123 c6902ad2-5f04-49b5-bfbe-35f0f1cb00fd 0ca48821-c238-4e18-a7aa-a650c3fb5e20 N muse;mutect2;somaticsniper;varscan2 CRISPLD1 83690 TGen GRCh38 chr8 74986000 74986000 + Missense_Mutation SNP G G A MMRF_2214_1_BM_CD138pos_T1_KHS5U_L08691 MMRF_2214_1_PB_Whole_C3_KHS5U_L08690 Somatic 420d2978-45d2-4aad-b72c-db68d37a380c ee2e8e8d-ba25-4c4c-9d0b-87383c2e5e00 c.13G>A p.Ala5Thr p.A5T ENST00000262207 2/15 192 112 80 285 CRISPLD1,missense_variant,p.A5T,ENST00000262207,NM_031461.5,c.13G>A,MODERATE,YES,tolerated(0.28),benign(0.001),1;CRISPLD1,missense_variant,p.A5T,ENST00000520277,,c.13G>A,MODERATE,,tolerated(0.31),benign(0.001),1;CRISPLD1,non_coding_transcript_exon_variant,,ENST00000519798,,n.394G>A,MODIFIER,,,,1 A ENSG00000121005 ENST00000262207 Transcript missense_variant missense_variant 481/4287 13/1503 5/500 A/T Gcg/Acg CRISPLD1 HGNC HGNC:18206 protein_coding YES CCDS6219.1 ENSP00000262207 Q9H336 UPI00000422F5 NM_031461.5 tolerated(0.28) benign(0.001) 2/15 MODERATE 1 SNV 1 GTACCGCGCGG 90d37dff-736a-4cc5-b347-c3560391e123 c6902ad2-5f04-49b5-bfbe-35f0f1cb00fd 0ca48821-c238-4e18-a7aa-a650c3fb5e20 COSM1458227 N muse;mutect2;somaticsniper;varscan2 SLC7A13 157724 TGen GRCh38 chr8 86229821 86229821 + Missense_Mutation SNP C C T rs755181378 byFrequency MMRF_2214_1_BM_CD138pos_T1_KHS5U_L08691 MMRF_2214_1_PB_Whole_C3_KHS5U_L08690 Somatic 420d2978-45d2-4aad-b72c-db68d37a380c ee2e8e8d-ba25-4c4c-9d0b-87383c2e5e00 c.457G>A p.Val153Met p.V153M ENST00000297524 1/4 202 139 63 338 SLC7A13,missense_variant,p.V153M,ENST00000297524,NM_138817.2,c.457G>A,MODERATE,YES,tolerated(0.07),possibly_damaging(0.612),-1;SLC7A13,missense_variant,p.V153M,ENST00000419776,,c.457G>A,MODERATE,,deleterious(0.05),benign(0.231),-1;SLC7A13,intron_variant,,ENST00000520624,,n.241-6718G>A,MODIFIER,,,,-1 T ENSG00000164893 ENST00000297524 Transcript missense_variant missense_variant 561/1878 457/1413 153/470 V/M Gtg/Atg rs755181378 SLC7A13 HGNC HGNC:23092 protein_coding YES CCDS34917.1 ENSP00000297524 Q8TCU3 UPI000006DF39 NM_138817.2 tolerated(0.07) possibly_damaging(0.612) 1/4 Transmembrane_helices:Tmhmm;Pfam_domain:PF00324;PIRSF_domain:PIRSF006060 MODERATE 1 SNV 1 3.295e-05 3.297e-05 0.0 0.0 0.0 0.0 5.996e-05 0.0 0.0 3.766194636938837e-05 3.76889156898956e-05 0.0 0.0 0.0 0.0 7.362685907819172e-05 0.0 0.0 TTTCACACCAC 90d37dff-736a-4cc5-b347-c3560391e123 c6902ad2-5f04-49b5-bfbe-35f0f1cb00fd 0ca48821-c238-4e18-a7aa-a650c3fb5e20 N somaticsniper;varscan2 WNK2 65268 TGen GRCh38 chr9 93259303 93259303 + Missense_Mutation SNP A A G novel MMRF_2214_1_BM_CD138pos_T1_KHS5U_L08691 MMRF_2214_1_PB_Whole_C3_KHS5U_L08690 Somatic 420d2978-45d2-4aad-b72c-db68d37a380c ee2e8e8d-ba25-4c4c-9d0b-87383c2e5e00 c.2755A>G p.Met919Val p.M919V ENST00000297954 11/30 280 200 80 302 WNK2,missense_variant,p.M915V,ENST00000432730,,c.2742A>G,MODERATE,,,benign(0.399),1;WNK2,missense_variant,p.M919V,ENST00000297954,NM_001282394.1,c.2755A>G,MODERATE,YES,,benign(0.224),1;WNK2,missense_variant,p.M919V,ENST00000395477,NM_006648.3,c.2755A>G,MODERATE,,,benign(0.399),1;WNK2,missense_variant,p.M523V,ENST00000411624,,c.1565A>G,MODERATE,,,benign(0.399),1;WNK2,5_prime_UTR_variant,,ENST00000427277,,c.-2262A>G,MODIFIER,,,,1;WNK2,upstream_gene_variant,,ENST00000448251,,,MODIFIER,,,,1;WNK2,downstream_gene_variant,,ENST00000448039,,,MODIFIER,,,,1;WNK2,downstream_gene_variant,,ENST00000464625,,,MODIFIER,,,,1;WNK2,upstream_gene_variant,,ENST00000478583,,,MODIFIER,,,,1 G ENSG00000165238 ENST00000297954 Transcript missense_variant missense_variant 2755/7138 2755/6894 919/2297 M/V Atg/Gtg WNK2 HGNC HGNC:14542 protein_coding YES CCDS75858.1 ENSP00000297954 Q9Y3S1 UPI0000236D76 NM_001282394.1 benign(0.224) 11/30 PROSITE_profiles:PS50099 MODERATE 1 SNV 1 CACAGATGGCG 90d37dff-736a-4cc5-b347-c3560391e123 c6902ad2-5f04-49b5-bfbe-35f0f1cb00fd 0ca48821-c238-4e18-a7aa-a650c3fb5e20 N muse;somaticsniper;varscan2 CCDC180 100499483 TGen GRCh38 chr9 97314716 97314716 + Silent SNP C C A novel MMRF_2214_1_BM_CD138pos_T1_KHS5U_L08691 MMRF_2214_1_PB_Whole_C3_KHS5U_L08690 Somatic 420d2978-45d2-4aad-b72c-db68d37a380c ee2e8e8d-ba25-4c4c-9d0b-87383c2e5e00 c.819C>A p.= p.S273S ENST00000529487 7/37 158 100 58 194 CCDC180,synonymous_variant,p.S273S,ENST00000529487,NM_020893.2,c.819C>A,LOW,YES,,,1;RP11-23J9.4,non_coding_transcript_exon_variant,,ENST00000534123,,n.1972C>A,MODIFIER,YES,,,1;RP11-23J9.4,non_coding_transcript_exon_variant,,ENST00000375206,,n.2171C>A,MODIFIER,,,,1;RP11-23J9.4,non_coding_transcript_exon_variant,,ENST00000357054,,n.1972C>A,MODIFIER,,,,1;RP11-23J9.4,non_coding_transcript_exon_variant,,ENST00000529787,,n.1390C>A,MODIFIER,,,,1;RP11-23J9.4,non_coding_transcript_exon_variant,,ENST00000532526,,n.1532C>A,MODIFIER,,,,1;CCDC180,non_coding_transcript_exon_variant,,ENST00000460482,,n.1021C>A,MODIFIER,,,,1;CCDC180,non_coding_transcript_exon_variant,,ENST00000494917,,n.890C>A,MODIFIER,,,,1 A ENSG00000197816 ENST00000529487 Transcript synonymous_variant synonymous_variant 916/5242 819/5106 273/1701 S tcC/tcA CCDC180 HGNC HGNC:29303 protein_coding YES CCDS35077.2 ENSP00000434727 Q9P1Z9 UPI00016277C6 NM_020893.2 7/37 LOW 1 SNV 1 TTCTCCCGAAC 90d37dff-736a-4cc5-b347-c3560391e123 c6902ad2-5f04-49b5-bfbe-35f0f1cb00fd 0ca48821-c238-4e18-a7aa-a650c3fb5e20 N muse;mutect2;somaticsniper;varscan2 ZNF462 58499 TGen GRCh38 chr9 107012740 107012740 + 3'UTR SNP G G A novel MMRF_2214_1_BM_CD138pos_T1_KHS5U_L08691 MMRF_2214_1_PB_Whole_C3_KHS5U_L08690 Somatic 420d2978-45d2-4aad-b72c-db68d37a380c ee2e8e8d-ba25-4c4c-9d0b-87383c2e5e00 c.*1710G>A ENST00000277225 13/13 14 10 4 12 ZNF462,3_prime_UTR_variant,,ENST00000277225,NM_021224.4,c.*1710G>A,MODIFIER,YES,,,1;ZNF462,downstream_gene_variant,,ENST00000374686,,,MODIFIER,,,,1;ZNF462,downstream_gene_variant,,ENST00000441147,,,MODIFIER,,,,1;RP11-508N12.2,intron_variant,,ENST00000439901,,n.456-36086C>T,MODIFIER,YES,,,-1;ZNF462,downstream_gene_variant,,ENST00000483287,,,MODIFIER,,,,1 A ENSG00000148143 ENST00000277225 Transcript 3_prime_UTR_variant 3_prime_UTR_variant 9520/10414 -/7521 -/2506 ZNF462 HGNC HGNC:21684 protein_coding YES CCDS35096.1 ENSP00000277225 Q96JM2 UPI0000470106 NM_021224.4 13/13 MODIFIER 1 SNV 1 GGAAGGGTTGT 90d37dff-736a-4cc5-b347-c3560391e123 c6902ad2-5f04-49b5-bfbe-35f0f1cb00fd 0ca48821-c238-4e18-a7aa-a650c3fb5e20 N muse;mutect2 ASTN2 23245 TGen GRCh38 chr9 116612150 116612150 + Intron SNP G G A novel MMRF_2214_1_BM_CD138pos_T1_KHS5U_L08691 MMRF_2214_1_PB_Whole_C3_KHS5U_L08690 Somatic 420d2978-45d2-4aad-b72c-db68d37a380c ee2e8e8d-ba25-4c4c-9d0b-87383c2e5e00 c.3355+6174C>T ENST00000313400 24 13 11 28 ASTN2,3_prime_UTR_variant,,ENST00000358637,NM_001184735.1,c.*1382C>T,MODIFIER,,,,-1;ASTN2,intron_variant,,ENST00000313400,,c.3355+6174C>T,MODIFIER,,,,-1;ASTN2,intron_variant,,ENST00000361209,NM_014010.4,c.3202+6174C>T,MODIFIER,YES,,,-1;ASTN2,intron_variant,,ENST00000361477,NM_198187.3,c.511+6174C>T,MODIFIER,,,,-1;ASTN2,intron_variant,,ENST00000373986,,c.2524+6174C>T,MODIFIER,,,,-1;ASTN2,intron_variant,,ENST00000288520,NM_198186.3,c.658+6174C>T,MODIFIER,,,,-1;ASTN2,intron_variant,,ENST00000341734,NM_198188.2&NM_001184734.1,c.511+6174C>T,MODIFIER,,,,-1 A ENSG00000148219 ENST00000313400 Transcript intron_variant intron_variant -/4747 -/4020 -/1339 ASTN2 HGNC HGNC:17021 protein_coding ENSP00000314038 O75129 UPI0000359605 19/22 MODIFIER SNV 5 AAATAGAAGAT 90d37dff-736a-4cc5-b347-c3560391e123 c6902ad2-5f04-49b5-bfbe-35f0f1cb00fd 0ca48821-c238-4e18-a7aa-a650c3fb5e20 N muse;mutect2 ARHGAP22 58504 TGen GRCh38 chr10 48450760 48450760 + Missense_Mutation SNP C C T rs748738151 byCluster MMRF_2214_1_BM_CD138pos_T1_KHS5U_L08691 MMRF_2214_1_PB_Whole_C3_KHS5U_L08690 Somatic 420d2978-45d2-4aad-b72c-db68d37a380c ee2e8e8d-ba25-4c4c-9d0b-87383c2e5e00 c.1369G>A p.Gly457Ser p.G457S ENST00000249601 9/10 122 74 48 219 ARHGAP22,missense_variant,p.G457S,ENST00000249601,NM_021226.3,c.1369G>A,MODERATE,,tolerated(0.45),benign(0.036),-1;ARHGAP22,missense_variant,p.G463S,ENST00000435790,NM_001256025.2,c.1387G>A,MODERATE,,tolerated(0.43),benign(0.023),-1;ARHGAP22,missense_variant,p.G348S,ENST00000374172,,c.1042G>A,MODERATE,,tolerated(0.35),benign(0.036),-1;ARHGAP22,missense_variant,p.G473S,ENST00000417912,NM_001256024.1,c.1417G>A,MODERATE,YES,tolerated(0.42),benign(0.027),-1;ARHGAP22,missense_variant,p.G367S,ENST00000417247,NM_001256026.1,c.1099G>A,MODERATE,,tolerated(0.35),benign(0.044),-1;ARHGAP22,missense_variant,p.G298S,ENST00000374170,,c.892G>A,MODERATE,,tolerated(0.44),benign(0.181),-1;ARHGAP22,missense_variant,p.G290S,ENST00000477708,,c.868G>A,MODERATE,,tolerated(0.25),benign(0.401),-1;RP11-541M12.6,upstream_gene_variant,,ENST00000624848,,,MODIFIER,YES,,,-1;ARHGAP22,downstream_gene_variant,,ENST00000471013,,,MODIFIER,,,,-1;ARHGAP22,downstream_gene_variant,,ENST00000515523,,,MODIFIER,,,,-1;ARHGAP22,downstream_gene_variant,,ENST00000489984,,,MODIFIER,,,,-1;ARHGAP22,3_prime_UTR_variant,,ENST00000460425,,c.*549G>A,MODIFIER,,,,-1 T ENSG00000128805 ENST00000249601 Transcript missense_variant missense_variant 1666/2751 1369/2097 457/698 G/S Ggc/Agc rs748738151 ARHGAP22 HGNC HGNC:30320 protein_coding CCDS7227.1 ENSP00000249601 Q7Z5H3 UPI00001B2971 NM_021226.3 tolerated(0.45) benign(0.036) 9/10 PROSITE_profiles:PS50324 MODERATE SNV 1 8.379e-06 5.356e-05 0.0 0.0 0.0 0.0 0.0001116 0.0 0.0 9.533070220595245e-06 6.846501437765302e-05 0.0 0.0 0.0 0.0 0.00017041581458759374 0.0 0.0 CCCGCCGGAGG 90d37dff-736a-4cc5-b347-c3560391e123 c6902ad2-5f04-49b5-bfbe-35f0f1cb00fd 0ca48821-c238-4e18-a7aa-a650c3fb5e20 N muse;mutect2;somaticsniper;varscan2 DDX21 9188 TGen GRCh38 chr10 68983715 68983715 + 3'UTR SNP A A G novel MMRF_2214_1_BM_CD138pos_T1_KHS5U_L08691 MMRF_2214_1_PB_Whole_C3_KHS5U_L08690 Somatic 420d2978-45d2-4aad-b72c-db68d37a380c ee2e8e8d-ba25-4c4c-9d0b-87383c2e5e00 c.*903A>G ENST00000354185 15/15 15 9 6 24 DDX21,3_prime_UTR_variant,,ENST00000620315,NM_001256910.1,c.*903A>G,MODIFIER,,,,1;DDX21,3_prime_UTR_variant,,ENST00000354185,NM_004728.3,c.*903A>G,MODIFIER,YES,,,1 G ENSG00000165732 ENST00000354185 Transcript 3_prime_UTR_variant 3_prime_UTR_variant 3353/4711 -/2352 -/783 DDX21 HGNC HGNC:2744 protein_coding YES CCDS31211.1 ENSP00000346120 Q9NR30 UPI00001A92E8 NM_004728.3 15/15 MODIFIER 1 SNV 1 AAAAAAAAAAG 90d37dff-736a-4cc5-b347-c3560391e123 c6902ad2-5f04-49b5-bfbe-35f0f1cb00fd 0ca48821-c238-4e18-a7aa-a650c3fb5e20 N muse;somaticsniper;varscan2 DLG5 9231 TGen GRCh38 chr10 77856776 77856776 + Missense_Mutation SNP G G A rs141294188 byCluster MMRF_2214_1_BM_CD138pos_T1_KHS5U_L08691 MMRF_2214_1_PB_Whole_C3_KHS5U_L08690 Somatic 420d2978-45d2-4aad-b72c-db68d37a380c ee2e8e8d-ba25-4c4c-9d0b-87383c2e5e00 c.490C>T p.Arg164Cys p.R164C ENST00000372391 3/32 22 10 12 37 DLG5,missense_variant,p.R164C,ENST00000372391,NM_004747.3,c.490C>T,MODERATE,YES,deleterious(0),probably_damaging(0.999),-1;DLG5,missense_variant,p.R89C,ENST00000468332,,c.265C>T,MODERATE,,deleterious(0),probably_damaging(0.993),-1;DLG5,intron_variant,,ENST00000475613,,n.93+12323C>T,MODIFIER,,,,-1 A ENSG00000151208 ENST00000372391 Transcript missense_variant missense_variant 496/7415 490/5760 164/1919 R/C Cgc/Tgc rs141294188 DLG5 HGNC HGNC:2904 protein_coding YES CCDS7353.2 ENSP00000361467 Q8TDM6 UPI0000470041 NM_004747.3 deleterious(0) probably_damaging(0.999) 3/32 Coiled-coils_(Ncoils):ncoils;Pfam_domain:PF04822 0.0 0.0001 MODERATE 1 SNV 1 1.647e-05 1.658e-05 0.0 0.0 0.0 0.0 1.51e-05 0.0 6.08e-05 1.8830618585820544e-05 1.89118142103372e-05 0.0 0.0 0.0 0.0 1.848018923713779e-05 0.0 6.118453255017132e-05 CTTGCGGAGCT 90d37dff-736a-4cc5-b347-c3560391e123 c6902ad2-5f04-49b5-bfbe-35f0f1cb00fd 0ca48821-c238-4e18-a7aa-a650c3fb5e20 N muse;mutect2 BLOC1S2 282991 TGen GRCh38 chr10 100286107 100286107 + Silent SNP C C T novel MMRF_2214_1_BM_CD138pos_T1_KHS5U_L08691 MMRF_2214_1_PB_Whole_C3_KHS5U_L08690 Somatic 420d2978-45d2-4aad-b72c-db68d37a380c ee2e8e8d-ba25-4c4c-9d0b-87383c2e5e00 c.162G>A p.= p.G54G ENST00000370372 2/5 154 96 58 296 BLOC1S2,synonymous_variant,p.G11G,ENST00000614731,NM_001282438.1,c.33G>A,LOW,,,,-1;BLOC1S2,synonymous_variant,p.G11G,ENST00000441611,NM_001282437.1&NM_001001342.2,c.33G>A,LOW,,,,-1;BLOC1S2,synonymous_variant,p.G54G,ENST00000370372,NM_001282439.1&NM_173809.4,c.162G>A,LOW,YES,,,-1;BLOC1S2,synonymous_variant,p.G14G,ENST00000579542,,c.42G>A,LOW,,,,-1;PKD2L1,downstream_gene_variant,,ENST00000318222,NM_001253837.1&NM_016112.2,,MODIFIER,YES,,,-1;BLOC1S2,upstream_gene_variant,,ENST00000618916,NM_001282436.1,,MODIFIER,,,,-1;PKD2L1,downstream_gene_variant,,ENST00000465680,,,MODIFIER,,,,-1;BLOC1S2,non_coding_transcript_exon_variant,,ENST00000361832,,n.295G>A,MODIFIER,,,,-1;PKD2L1,downstream_gene_variant,,ENST00000528248,,,MODIFIER,,,,-1 T ENSG00000196072 ENST00000370372 Transcript synonymous_variant synonymous_variant 215/1249 162/429 54/142 G ggG/ggA BLOC1S2 HGNC HGNC:20984 protein_coding YES CCDS7490.1 ENSP00000359398 Q6QNY1 F1T0F0 UPI00000358DA NM_001282439.1;NM_173809.4 2/5 Pfam_domain:PF10046 LOW 1 SNV 1 AGTTCCCCAGT 90d37dff-736a-4cc5-b347-c3560391e123 c6902ad2-5f04-49b5-bfbe-35f0f1cb00fd 0ca48821-c238-4e18-a7aa-a650c3fb5e20 N muse;mutect2;somaticsniper;varscan2 FOXI2 399823 TGen GRCh38 chr10 127736753 127736753 + 5'Flank SNP C C T novel MMRF_2214_1_BM_CD138pos_T1_KHS5U_L08691 MMRF_2214_1_PB_Whole_C3_KHS5U_L08690 Somatic 420d2978-45d2-4aad-b72c-db68d37a380c ee2e8e8d-ba25-4c4c-9d0b-87383c2e5e00 ENST00000388920 93 59 34 153 FOXI2,upstream_gene_variant,,ENST00000388920,NM_207426.2,,MODIFIER,YES,,,1;RP11-288A5.2,non_coding_transcript_exon_variant,,ENST00000623953,,n.244G>A,MODIFIER,YES,,,-1 T ENSG00000186766 ENST00000388920 Transcript upstream_gene_variant upstream_gene_variant -/3217 -/957 -/318 482 FOXI2 HGNC HGNC:32448 protein_coding YES CCDS7655.2 ENSP00000373572 Q6ZQN5 UPI0000253B9D NM_207426.2 MODIFIER 1 SNV 1 CGAGTCCCGGG 90d37dff-736a-4cc5-b347-c3560391e123 c6902ad2-5f04-49b5-bfbe-35f0f1cb00fd 0ca48821-c238-4e18-a7aa-a650c3fb5e20 N muse;mutect2;somaticsniper;varscan2 CALY 50632 TGen GRCh38 chr10 133327543 133327543 + Intron SNP G G C novel MMRF_2214_1_BM_CD138pos_T1_KHS5U_L08691 MMRF_2214_1_PB_Whole_C3_KHS5U_L08690 Somatic 420d2978-45d2-4aad-b72c-db68d37a380c ee2e8e8d-ba25-4c4c-9d0b-87383c2e5e00 c.246+362C>G ENST00000252939 34 21 13 73 CALY,3_prime_UTR_variant,,ENST00000368555,,c.*131C>G,MODIFIER,,,,-1;CALY,intron_variant,,ENST00000252939,NM_015722.3,c.246+362C>G,MODIFIER,YES,,,-1;PRAP1,intron_variant,,ENST00000368554,,c.485+15702G>C,MODIFIER,,,,1;CALY,intron_variant,,ENST00000368558,,c.246+362C>G,MODIFIER,,,,-1;CALY,upstream_gene_variant,,ENST00000467611,,,MODIFIER,,,,-1;CALY,upstream_gene_variant,,ENST00000467433,,,MODIFIER,,,,-1 C ENSG00000130643 ENST00000252939 Transcript intron_variant intron_variant -/2271 -/654 -/217 CALY HGNC HGNC:17938 protein_coding YES CCDS7678.1 ENSP00000252939 Q9NYX4 UPI0000001C76 NM_015722.3 3/5 MODIFIER 1 SNV 1 GAGAAGATATT 90d37dff-736a-4cc5-b347-c3560391e123 c6902ad2-5f04-49b5-bfbe-35f0f1cb00fd 0ca48821-c238-4e18-a7aa-a650c3fb5e20 N muse;mutect2;somaticsniper;varscan2 RPL27A 6157 TGen GRCh38 chr11 8689385 8689385 + 3'UTR SNP A A G novel MMRF_2214_1_BM_CD138pos_T1_KHS5U_L08691 MMRF_2214_1_PB_Whole_C3_KHS5U_L08690 Somatic 420d2978-45d2-4aad-b72c-db68d37a380c ee2e8e8d-ba25-4c4c-9d0b-87383c2e5e00 c.*3579A>G ENST00000314138 5/5 88 54 34 77 RPL27A,3_prime_UTR_variant,,ENST00000314138,NM_000990.4,c.*3579A>G,MODIFIER,YES,,,1;ST5,downstream_gene_variant,,ENST00000534127,NM_005418.3,,MODIFIER,YES,,,-1;ST5,downstream_gene_variant,,ENST00000313726,NM_213618.1,,MODIFIER,,,,-1;ST5,downstream_gene_variant,,ENST00000357665,,,MODIFIER,,,,-1;ST5,downstream_gene_variant,,ENST00000530991,,,MODIFIER,,,,-1;ST5,downstream_gene_variant,,ENST00000526757,NM_139157.2,,MODIFIER,,,,-1;ST5,downstream_gene_variant,,ENST00000530438,,,MODIFIER,,,,-1;ST5,downstream_gene_variant,,ENST00000526099,,,MODIFIER,,,,-1;ST5,downstream_gene_variant,,ENST00000534278,,,MODIFIER,,,,-1;RPL27A,downstream_gene_variant,,ENST00000530022,,,MODIFIER,,,,1;RPL27A,downstream_gene_variant,,ENST00000531978,,,MODIFIER,,,,1;RPL27A,downstream_gene_variant,,ENST00000530913,,,MODIFIER,,,,1;RPL27A,downstream_gene_variant,,ENST00000524496,,,MODIFIER,,,,1;RPL27A,downstream_gene_variant,,ENST00000526562,,,MODIFIER,,,,1;RPL27A,downstream_gene_variant,,ENST00000532359,,,MODIFIER,,,,1;RPL27A,downstream_gene_variant,,ENST00000525981,,,MODIFIER,,,,1;SNORA45B,downstream_gene_variant,,ENST00000391305,,,MODIFIER,YES,,,1;AC091053.2,downstream_gene_variant,,ENST00000626835,,,MODIFIER,YES,,,1;RP11-152H18.3,upstream_gene_variant,,ENST00000529883,,,MODIFIER,YES,,,1;RPL27A,intron_variant,,ENST00000531102,,n.174+82A>G,MODIFIER,,,,1;ST5,downstream_gene_variant,,ENST00000527540,,,MODIFIER,,,,-1;ST5,downstream_gene_variant,,ENST00000532162,,,MODIFIER,,,,-1;RPL27A,downstream_gene_variant,,ENST00000534599,,,MODIFIER,,,,1;ST5,downstream_gene_variant,,ENST00000524513,,,MODIFIER,,,,-1;RPL27A,downstream_gene_variant,,ENST00000530585,,,MODIFIER,,,,1 G ENSG00000166441 ENST00000314138 Transcript 3_prime_UTR_variant 3_prime_UTR_variant 4429/4916 -/447 -/148 RPL27A HGNC HGNC:10329 protein_coding YES CCDS7790.1 ENSP00000346015 P46776 UPI0000161BF5 NM_000990.4 5/5 MODIFIER 1 SNV 1 GAAGAACATAA 90d37dff-736a-4cc5-b347-c3560391e123 c6902ad2-5f04-49b5-bfbe-35f0f1cb00fd 0ca48821-c238-4e18-a7aa-a650c3fb5e20 N muse;mutect2;somaticsniper;varscan2 WT1 7490 TGen GRCh38 chr11 32396310 32396310 + Missense_Mutation SNP T T G rs748864758 byFrequency MMRF_2214_1_BM_CD138pos_T1_KHS5U_L08691 MMRF_2214_1_PB_Whole_C3_KHS5U_L08690 Somatic 420d2978-45d2-4aad-b72c-db68d37a380c ee2e8e8d-ba25-4c4c-9d0b-87383c2e5e00 c.1196A>C p.Asn399Thr p.N399T ENST00000332351 7/10 254 174 80 310 WT1,missense_variant,p.N399T,ENST00000332351,NM_024426.4,c.1196A>C,MODERATE,YES,deleterious_low_confidence(0.02),possibly_damaging(0.684),-1;WT1,missense_variant,p.N382T,ENST00000452863,NM_000378.4,c.1145A>C,MODERATE,,deleterious_low_confidence(0.01),benign(0.28),-1;WT1,missense_variant,p.N187T,ENST00000379079,NM_001198551.1,c.560A>C,MODERATE,,deleterious(0.04),benign(0.071),-1;WT1,missense_variant,p.N170T,ENST00000530998,NM_001198552.1,c.509A>C,MODERATE,,tolerated(0.11),probably_damaging(0.972),-1;WT1,missense_variant,p.N399T,ENST00000448076,NM_024424.3,c.1196A>C,MODERATE,,deleterious_low_confidence(0.01),benign(0.237),-1;WT1,missense_variant,p.N8T,ENST00000526685,,c.23A>C,MODERATE,,tolerated_low_confidence(0.16),benign(0.072),-1;WT1,missense_variant,p.N90T,ENST00000527882,,c.267A>C,MODERATE,,deleterious(0.03),benign(0.079),-1;WT1,downstream_gene_variant,,ENST00000527775,,,MODIFIER,,,,-1;WT1,3_prime_UTR_variant,,ENST00000379077,,c.*395A>C,MODIFIER,,,,-1 G ENSG00000184937 ENST00000332351 Transcript missense_variant missense_variant 1481/3122 1196/1554 399/517 N/T aAt/aCt rs748864758 WT1 HGNC HGNC:12796 protein_coding YES CCDS7878.2 ENSP00000331327 J3KNN9 UPI0000D625D7 NM_024426.4 deleterious_low_confidence(0.02) possibly_damaging(0.684) 7/10 PROSITE_profiles:PS50157;SMART_domains:SM00355 MODERATE 1 SNV 1 8.236e-06 8.239e-06 0.0 0.0 0.0 0.0 1.499e-05 0.0 0.0 TCTTATTGCAG 90d37dff-736a-4cc5-b347-c3560391e123 c6902ad2-5f04-49b5-bfbe-35f0f1cb00fd 0ca48821-c238-4e18-a7aa-a650c3fb5e20 N muse;mutect2;somaticsniper;varscan2 DDB1 1642 TGen GRCh38 chr11 61299781 61299782 + 3'UTR DEL AT AT - rs796799077 MMRF_2214_1_BM_CD138pos_T1_KHS5U_L08691 MMRF_2214_1_PB_Whole_C3_KHS5U_L08690 Somatic 420d2978-45d2-4aad-b72c-db68d37a380c ee2e8e8d-ba25-4c4c-9d0b-87383c2e5e00 c.*354_*355delAT ENST00000301764 27/27 41 34 7 60 DDB1,3_prime_UTR_variant,,ENST00000301764,NM_001923.4,c.*354_*355delAT,MODIFIER,YES,,,-1;DDB1,3_prime_UTR_variant,,ENST00000451943,,c.*354_*355delAT,MODIFIER,,,,-1;VWCE,upstream_gene_variant,,ENST00000335613,NM_152718.2,,MODIFIER,YES,,,-1;DDB1,downstream_gene_variant,,ENST00000539332,,,MODIFIER,,,,-1;DDB1,downstream_gene_variant,,ENST00000538470,,,MODIFIER,,,,-1;DDB1,non_coding_transcript_exon_variant,,ENST00000545894,,n.2181_2182delAT,MODIFIER,,,,-1;DDB1,downstream_gene_variant,,ENST00000540166,,,MODIFIER,,,,-1;VWCE,upstream_gene_variant,,ENST00000301770,,,MODIFIER,,,,-1;VWCE,upstream_gene_variant,,ENST00000535599,,,MODIFIER,,,,-1;VWCE,upstream_gene_variant,,ENST00000538579,,,MODIFIER,,,,-1 - ENSG00000167986 ENST00000301764 Transcript 3_prime_UTR_variant 3_prime_UTR_variant 4175-4176/4506 -/3423 -/1140 rs796799077 DDB1 HGNC HGNC:2717 protein_coding YES CCDS31576.1 ENSP00000301764 Q16531 UPI0000000CB7 NM_001923.4 27/27 MODIFIER 1 deletion 1 ATACACATACACA 90d37dff-736a-4cc5-b347-c3560391e123 c6902ad2-5f04-49b5-bfbe-35f0f1cb00fd 0ca48821-c238-4e18-a7aa-a650c3fb5e20 N mutect2;varscan2 ROBO3 64221 TGen GRCh38 chr11 124876024 124876024 + Missense_Mutation SNP T T C novel MMRF_2214_1_BM_CD138pos_T1_KHS5U_L08691 MMRF_2214_1_PB_Whole_C3_KHS5U_L08690 Somatic 420d2978-45d2-4aad-b72c-db68d37a380c ee2e8e8d-ba25-4c4c-9d0b-87383c2e5e00 c.2492T>C p.Met831Thr p.M831T ENST00000397801 16/28 54 38 15 59 ROBO3,missense_variant,p.M831T,ENST00000397801,NM_022370.3,c.2492T>C,MODERATE,YES,tolerated(0.11),benign(0.001),1;ROBO3,missense_variant,p.M809T,ENST00000538940,,c.2426T>C,MODERATE,,tolerated(0.11),benign(0),1;ROBO3,upstream_gene_variant,,ENST00000543966,,,MODIFIER,,,,1;ROBO3,upstream_gene_variant,,ENST00000525482,,,MODIFIER,,,,1;ROBO3,upstream_gene_variant,,ENST00000528820,,,MODIFIER,,,,1;ROBO3,upstream_gene_variant,,ENST00000528144,,,MODIFIER,,,,1;ROBO3,upstream_gene_variant,,ENST00000531075,,,MODIFIER,,,,1;ROBO3,upstream_gene_variant,,ENST00000526551,,,MODIFIER,,,,1;ROBO3,upstream_gene_variant,,ENST00000532472,,,MODIFIER,,,,1;ROBO3,upstream_gene_variant,,ENST00000531545,,,MODIFIER,,,,1;ROBO3,upstream_gene_variant,,ENST00000527245,,,MODIFIER,,,,1;ROBO3,upstream_gene_variant,,ENST00000529658,,,MODIFIER,,,,1;ROBO3,upstream_gene_variant,,ENST00000525448,,,MODIFIER,,,,1;ROBO3,upstream_gene_variant,,ENST00000527196,,,MODIFIER,,,,1;ROBO3,upstream_gene_variant,,ENST00000534598,,,MODIFIER,,,,1;ROBO3,upstream_gene_variant,,ENST00000524971,,,MODIFIER,,,,1;ROBO3,upstream_gene_variant,,ENST00000525304,,,MODIFIER,,,,1;ROBO3,upstream_gene_variant,,ENST00000528068,,,MODIFIER,,,,1;ROBO3,upstream_gene_variant,,ENST00000531888,,,MODIFIER,,,,1;ROBO3,upstream_gene_variant,,ENST00000530647,,,MODIFIER,,,,1;ROBO3,upstream_gene_variant,,ENST00000531119,,,MODIFIER,,,,1 C ENSG00000154134 ENST00000397801 Transcript missense_variant missense_variant 2684/4569 2492/4161 831/1386 M/T aTg/aCg ROBO3 HGNC HGNC:13433 protein_coding YES CCDS44755.1 ENSP00000380903 Q96MS0 UPI000035AA82 NM_022370.3 tolerated(0.11) benign(0.001) 16/28 Pfam_domain:PF00041;PROSITE_profiles:PS50853;SMART_domains:SM00060;Superfamily_domains:SSF49265 MODERATE 1 SNV 1 CGCAATGCTCC 90d37dff-736a-4cc5-b347-c3560391e123 c6902ad2-5f04-49b5-bfbe-35f0f1cb00fd 0ca48821-c238-4e18-a7aa-a650c3fb5e20 N muse;mutect2;somaticsniper;varscan2 FAM118B 79607 TGen GRCh38 chr11 126250598 126250598 + Missense_Mutation SNP G G C novel MMRF_2214_1_BM_CD138pos_T1_KHS5U_L08691 MMRF_2214_1_PB_Whole_C3_KHS5U_L08690 Somatic 420d2978-45d2-4aad-b72c-db68d37a380c ee2e8e8d-ba25-4c4c-9d0b-87383c2e5e00 c.432G>C p.Gln144His p.Q144H ENST00000533050 5/9 176 114 62 236 FAM118B,missense_variant,p.Q144H,ENST00000533050,NM_024556.3,c.432G>C,MODERATE,YES,tolerated(0.63),benign(0.001),1;FAM118B,missense_variant,p.Q144H,ENST00000360194,,c.432G>C,MODERATE,,tolerated(0.61),benign(0.004),1;FAM118B,missense_variant,p.Q144H,ENST00000528985,,c.432G>C,MODERATE,,,,1;FAM118B,missense_variant,p.Q144H,ENST00000530043,,c.432G>C,MODERATE,,tolerated_low_confidence(0.56),benign(0.001),1;FAM118B,intron_variant,,ENST00000627851,,c.340-3707G>C,MODIFIER,,,,1;FAM118B,intron_variant,,ENST00000529731,,c.340-3707G>C,MODIFIER,,,,1;FAM118B,intron_variant,,ENST00000525338,,c.340-3707G>C,MODIFIER,,,,1;FAM118B,non_coding_transcript_exon_variant,,ENST00000525728,,n.480G>C,MODIFIER,,,,1 C ENSG00000197798 ENST00000533050 Transcript missense_variant missense_variant 925/2402 432/1056 144/351 Q/H caG/caC FAM118B HGNC HGNC:26110 protein_coding YES CCDS8470.1 ENSP00000433343 Q9BPY3 A0A024R3L8 UPI000004A026 NM_024556.3 tolerated(0.63) benign(0.001) 5/9 MODERATE 1 SNV 1 AAACAGCTACT 90d37dff-736a-4cc5-b347-c3560391e123 c6902ad2-5f04-49b5-bfbe-35f0f1cb00fd 0ca48821-c238-4e18-a7aa-a650c3fb5e20 N muse;mutect2;somaticsniper;varscan2 CACNA2D4 93589 TGen GRCh38 chr12 1884146 1884146 + Intron SNP C C T novel MMRF_2214_1_BM_CD138pos_T1_KHS5U_L08691 MMRF_2214_1_PB_Whole_C3_KHS5U_L08690 Somatic 420d2978-45d2-4aad-b72c-db68d37a380c ee2e8e8d-ba25-4c4c-9d0b-87383c2e5e00 c.1351+97G>A ENST00000382722 17 9 8 14 CACNA2D4,intron_variant,,ENST00000382722,NM_172364.4,c.1351+97G>A,MODIFIER,YES,,,-1;CACNA2D4,intron_variant,,ENST00000587995,,c.1351+97G>A,MODIFIER,,,,-1;CACNA2D4,intron_variant,,ENST00000586184,,c.1351+97G>A,MODIFIER,,,,-1;CACNA2D4,intron_variant,,ENST00000588077,,c.1159+97G>A,MODIFIER,,,,-1;CACNA2D4,intron_variant,,ENST00000585708,,c.1159+97G>A,MODIFIER,,,,-1;CACNA2D4,intron_variant,,ENST00000585732,,c.1020+622G>A,MODIFIER,,,,-1;CACNA2D4,non_coding_transcript_exon_variant,,ENST00000590880,,n.288G>A,MODIFIER,,,,-1;CACNA2D4,intron_variant,,ENST00000280663,,n.1544+97G>A,MODIFIER,,,,-1;CACNA2D4,intron_variant,,ENST00000444595,,c.1351+97G>A,MODIFIER,,,,-1 T ENSG00000151062 ENST00000382722 Transcript intron_variant intron_variant -/5475 -/3414 -/1137 CACNA2D4 HGNC HGNC:20202 protein_coding YES CCDS44785.1 ENSP00000372169 Q7Z3S7 NM_172364.4 12/37 MODIFIER 1 SNV 1 GGGGCCCATGG 90d37dff-736a-4cc5-b347-c3560391e123 c6902ad2-5f04-49b5-bfbe-35f0f1cb00fd 0ca48821-c238-4e18-a7aa-a650c3fb5e20 N muse;mutect2;somaticsniper;varscan2 KRAS 3845 TGen GRCh38 chr12 25245347 25245347 + Missense_Mutation SNP C C T rs112445441 byCluster MMRF_2214_1_BM_CD138pos_T1_KHS5U_L08691 MMRF_2214_1_PB_Whole_C3_KHS5U_L08690 Somatic 420d2978-45d2-4aad-b72c-db68d37a380c ee2e8e8d-ba25-4c4c-9d0b-87383c2e5e00 c.38G>A p.Gly13Asp p.G13D ENST00000256078 2/6 178 92 86 363 KRAS,missense_variant,p.G13D,ENST00000311936,NM_004985.3,c.38G>A,MODERATE,,deleterious(0.04),benign(0.266),-1;KRAS,missense_variant,p.G13D,ENST00000556131,,c.38G>A,MODERATE,,deleterious(0.04),benign(0.105),-1;KRAS,missense_variant,p.G13D,ENST00000256078,NM_033360.2,c.38G>A,MODERATE,YES,deleterious(0.04),possibly_damaging(0.506),-1;KRAS,missense_variant,p.G13D,ENST00000557334,,c.38G>A,MODERATE,,deleterious_low_confidence(0.03),unknown(0),-1 T ENSG00000133703 ENST00000256078 Transcript missense_variant missense_variant 102/1119 38/570 13/189 G/D gGc/gAc rs112445441 KRAS HGNC HGNC:6407 protein_coding YES CCDS8703.1 ENSP00000256078 P01116 L7RSL8 UPI0000133132 NM_033360.2 deleterious(0.04) possibly_damaging(0.506) 2/6 Low_complexity_(Seg):Seg;Pfam_domain:PF00071;Pfam_domain:PF08477;Pfam_domain:PF00025;Prints_domain:PR00449;TIGRFAM_domain:TIGR00231;SMART_domains:SM00173;SMART_domains:SM00175;SMART_domains:SM00174;SMART_domains:SM00176;Superfamily_domains:SSF52540 pathogenic 1 MODERATE 1 SNV 1 1 CTACGCCACCA 90d37dff-736a-4cc5-b347-c3560391e123 c6902ad2-5f04-49b5-bfbe-35f0f1cb00fd 0ca48821-c238-4e18-a7aa-a650c3fb5e20 COSM1140132;COSM532 Y muse;mutect2;somaticsniper;varscan2 KRT83 3889 TGen GRCh38 chr12 52319360 52319360 + Missense_Mutation SNP C C T rs139360978 by1000G;byCluster;byFrequency MMRF_2214_1_BM_CD138pos_T1_KHS5U_L08691 MMRF_2214_1_PB_Whole_C3_KHS5U_L08690 Somatic 420d2978-45d2-4aad-b72c-db68d37a380c ee2e8e8d-ba25-4c4c-9d0b-87383c2e5e00 c.389G>A p.Arg130His p.R130H ENST00000293670 2/9 30 20 10 49 KRT83,missense_variant,p.R130H,ENST00000293670,NM_002282.3,c.389G>A,MODERATE,YES,deleterious(0.02),benign(0.351),-1 T ENSG00000170523 ENST00000293670 Transcript missense_variant missense_variant 452/1875 389/1482 130/493 R/H cGc/cAc rs139360978 KRT83 HGNC HGNC:6460 protein_coding YES CCDS8823.1 ENSP00000293670 P78385 UPI0000070AF2 NM_002282.3 deleterious(0.02) benign(0.351) 2/9 Coiled-coils_(Ncoils):ncoils;Pfam_domain:PF00038 0.0004 0.0008 0.0 0.0 0.0 0.001 0.0009 0.0 MODERATE 1 SNV 1 9.884e-05 9.89e-05 0.0006736 8.642e-05 0.0 0.0 2.999e-05 0.0 0.0001212 8.473778363619245e-05 8.479207099922745e-05 0.0006626905235255136 0.0 0.0 0.0 1.8414849734826163e-05 0.0 0.000121921482565228 GGAAGCGCACC 90d37dff-736a-4cc5-b347-c3560391e123 c6902ad2-5f04-49b5-bfbe-35f0f1cb00fd 0ca48821-c238-4e18-a7aa-a650c3fb5e20 N muse;mutect2;somaticsniper;varscan2 KRT82 3888 TGen GRCh38 chr12 52400149 52400149 + Missense_Mutation SNP C C T novel MMRF_2214_1_BM_CD138pos_T1_KHS5U_L08691 MMRF_2214_1_PB_Whole_C3_KHS5U_L08690 Somatic 420d2978-45d2-4aad-b72c-db68d37a380c ee2e8e8d-ba25-4c4c-9d0b-87383c2e5e00 c.778G>A p.Glu260Lys p.E260K ENST00000257974 5/9 81 40 41 106 KRT82,missense_variant,p.E260K,ENST00000257974,NM_033033.3,c.778G>A,MODERATE,YES,deleterious(0),possibly_damaging(0.842),-1;RP3-416H24.4,intron_variant,,ENST00000547174,,n.147-1843C>T,MODIFIER,YES,,,1 T ENSG00000161850 ENST00000257974 Transcript missense_variant missense_variant;splice_region_variant 856/2664 778/1542 260/513 E/K Gag/Aag KRT82 HGNC HGNC:6459 protein_coding YES CCDS8826.1 ENSP00000257974 Q9NSB4 UPI000013CFA4 NM_033033.3 deleterious(0) possibly_damaging(0.842) 5/9 Pfam_domain:PF00038 MODERATE 1 SNV 1 GATCTCCTGGG 90d37dff-736a-4cc5-b347-c3560391e123 c6902ad2-5f04-49b5-bfbe-35f0f1cb00fd 0ca48821-c238-4e18-a7aa-a650c3fb5e20 N muse;mutect2;somaticsniper;varscan2 ITGA5 3678 TGen GRCh38 chr12 54396238 54396238 + 3'UTR SNP G G C novel MMRF_2214_1_BM_CD138pos_T1_KHS5U_L08691 MMRF_2214_1_PB_Whole_C3_KHS5U_L08690 Somatic 420d2978-45d2-4aad-b72c-db68d37a380c ee2e8e8d-ba25-4c4c-9d0b-87383c2e5e00 c.*55C>G ENST00000293379 30/30 28 13 14 44 ITGA5,3_prime_UTR_variant,,ENST00000293379,NM_002205.2,c.*55C>G,MODIFIER,YES,,,-1;ITGA5,3_prime_UTR_variant,,ENST00000547197,,c.*55C>G,MODIFIER,,,,-1;ZNF385A,upstream_gene_variant,,ENST00000338010,NM_001130967.1,,MODIFIER,YES,,,-1;ZNF385A,upstream_gene_variant,,ENST00000352268,NM_001130968.1&NM_001290001.1,,MODIFIER,,,,-1;ZNF385A,upstream_gene_variant,,ENST00000549962,,,MODIFIER,,,,-1;ZNF385A,upstream_gene_variant,,ENST00000550774,,,MODIFIER,,,,-1;RP11-753H16.3,intron_variant,,ENST00000550474,,n.48-31619G>C,MODIFIER,YES,,,1;RP11-753H16.5,intron_variant,,ENST00000552785,,n.106-11159G>C,MODIFIER,YES,,,1;ITGA5,non_coding_transcript_exon_variant,,ENST00000552564,,n.4019C>G,MODIFIER,,,,-1;ITGA5,non_coding_transcript_exon_variant,,ENST00000549601,,n.489C>G,MODIFIER,,,,-1;ITGA5,downstream_gene_variant,,ENST00000552387,,,MODIFIER,,,,-1;ITGA5,downstream_gene_variant,,ENST00000552431,,,MODIFIER,,,,-1 C ENSG00000161638 ENST00000293379 Transcript 3_prime_UTR_variant 3_prime_UTR_variant 3467/4444 -/3150 -/1049 ITGA5 HGNC HGNC:6141 protein_coding YES CCDS8880.1 ENSP00000293379 P08648 NM_002205.2 30/30 MODIFIER 1 SNV 1 CAGTAGAATGA 90d37dff-736a-4cc5-b347-c3560391e123 c6902ad2-5f04-49b5-bfbe-35f0f1cb00fd 0ca48821-c238-4e18-a7aa-a650c3fb5e20 N muse;mutect2;somaticsniper;varscan2 KERA 11081 TGen GRCh38 chr12 91055798 91055798 + Missense_Mutation SNP A A T novel MMRF_2214_1_BM_CD138pos_T1_KHS5U_L08691 MMRF_2214_1_PB_Whole_C3_KHS5U_L08690 Somatic 420d2978-45d2-4aad-b72c-db68d37a380c ee2e8e8d-ba25-4c4c-9d0b-87383c2e5e00 c.484T>A p.Phe162Ile p.F162I ENST00000266719 2/3 139 76 62 243 KERA,missense_variant,p.F162I,ENST00000266719,NM_007035.3,c.484T>A,MODERATE,YES,deleterious(0),probably_damaging(0.997),-1 T ENSG00000139330 ENST00000266719 Transcript missense_variant missense_variant 732/2162 484/1059 162/352 F/I Ttt/Att KERA HGNC HGNC:6309 protein_coding YES CCDS9037.1 ENSP00000266719 O60938 NM_007035.3 deleterious(0) probably_damaging(0.997) 2/3 Pfam_domain:PF00560;SMART_domains:SM00369;Superfamily_domains:SSF52058 MODERATE 1 SNV 1 GCTAAAGGTCC 90d37dff-736a-4cc5-b347-c3560391e123 c6902ad2-5f04-49b5-bfbe-35f0f1cb00fd 0ca48821-c238-4e18-a7aa-a650c3fb5e20 N muse;mutect2;somaticsniper;varscan2 DTX1 1840 TGen GRCh38 chr12 113094063 113094064 + Frame_Shift_Del DEL AA AA - novel MMRF_2214_1_BM_CD138pos_T1_KHS5U_L08691 MMRF_2214_1_PB_Whole_C3_KHS5U_L08690 Somatic 420d2978-45d2-4aad-b72c-db68d37a380c ee2e8e8d-ba25-4c4c-9d0b-87383c2e5e00 c.1191_1192delAA p.Arg398IlefsTer10 p.R398Ifs*10 ENST00000257600 5/9 70 45 25 106 DTX1,frameshift_variant,p.R398Ifs*10,ENST00000257600,NM_004416.2,c.1191_1192delAA,HIGH,YES,,,1;RASAL1,downstream_gene_variant,,ENST00000546530,NM_001193520.1,,MODIFIER,YES,,,-1;DTX1,non_coding_transcript_exon_variant,,ENST00000547974,,n.445_446delAA,MODIFIER,,,,1;DTX1,non_coding_transcript_exon_variant,,ENST00000553140,,n.237_238delAA,MODIFIER,,,,1;DTX1,upstream_gene_variant,,ENST00000547730,,,MODIFIER,,,,1 - ENSG00000135144 ENST00000257600 Transcript frameshift_variant frameshift_variant 1694-1695/3455 1191-1192/1863 397-398/620 RR/RX cgAAga/cgga DTX1 HGNC HGNC:3060 protein_coding YES CCDS9164.1 ENSP00000257600 Q86Y01 UPI000013CF71 NM_004416.2 5/9 Superfamily_domains:SSF57850 HIGH 1 deletion 1 GGTTCGAAGATAC 90d37dff-736a-4cc5-b347-c3560391e123 c6902ad2-5f04-49b5-bfbe-35f0f1cb00fd 0ca48821-c238-4e18-a7aa-a650c3fb5e20 N mutect2;pindel;varscan2 MPHOSPH8 54737 TGen GRCh38 chr13 19671931 19671931 + 3'UTR SNP G G C novel MMRF_2214_1_BM_CD138pos_T1_KHS5U_L08691 MMRF_2214_1_PB_Whole_C3_KHS5U_L08690 Somatic 420d2978-45d2-4aad-b72c-db68d37a380c ee2e8e8d-ba25-4c4c-9d0b-87383c2e5e00 c.*56G>C ENST00000361479 14/14 156 92 64 317 MPHOSPH8,3_prime_UTR_variant,,ENST00000361479,NM_017520.3,c.*56G>C,MODIFIER,YES,,,1;MPHOSPH8,3_prime_UTR_variant,,ENST00000449056,,c.*124G>C,MODIFIER,,,,1;RP11-523H24.3,upstream_gene_variant,,ENST00000423023,,,MODIFIER,YES,,,1;MPHOSPH8,non_coding_transcript_exon_variant,,ENST00000496525,,n.572G>C,MODIFIER,,,,1;PSPC1,downstream_gene_variant,,ENST00000497722,,,MODIFIER,,,,-1;PSPC1,downstream_gene_variant,,ENST00000492741,,,MODIFIER,,,,-1;PSPC1,downstream_gene_variant,,ENST00000471658,,,MODIFIER,,,,-1 C ENSG00000196199 ENST00000361479 Transcript 3_prime_UTR_variant 3_prime_UTR_variant 2707/4235 -/2583 -/860 MPHOSPH8 HGNC HGNC:29810 protein_coding YES CCDS9287.1 ENSP00000355388 Q99549 UPI0000051C18 NM_017520.3 14/14 MODIFIER 1 SNV 1 TCTTTGACAGC 90d37dff-736a-4cc5-b347-c3560391e123 c6902ad2-5f04-49b5-bfbe-35f0f1cb00fd 0ca48821-c238-4e18-a7aa-a650c3fb5e20 N muse;mutect2;somaticsniper;varscan2 MCF2L 23263 TGen GRCh38 chr13 113001816 113001816 + Intron SNP C C T novel MMRF_2214_1_BM_CD138pos_T1_KHS5U_L08691 MMRF_2214_1_PB_Whole_C3_KHS5U_L08690 Somatic 420d2978-45d2-4aad-b72c-db68d37a380c ee2e8e8d-ba25-4c4c-9d0b-87383c2e5e00 c.170-12947C>T ENST00000375608 21 10 11 35 MCF2L,5_prime_UTR_variant,,ENST00000375604,NM_024979.4,c.-95C>T,MODIFIER,,,,1;MCF2L,5_prime_UTR_variant,,ENST00000375597,,c.-95C>T,MODIFIER,,,,1;MCF2L,intron_variant,,ENST00000397030,,c.179-12947C>T,MODIFIER,,,,1;MCF2L,intron_variant,,ENST00000535094,NM_001112732.2,c.80-12947C>T,MODIFIER,YES,,,1;MCF2L,intron_variant,,ENST00000375608,,c.170-12947C>T,MODIFIER,,,,1;MCF2L,intron_variant,,ENST00000421756,,c.92-12947C>T,MODIFIER,,,,1;MCF2L,intron_variant,,ENST00000409954,,c.-9+391C>T,MODIFIER,,,,1;MCF2L,intron_variant,,ENST00000433807,,c.98-12947C>T,MODIFIER,,,,1;MCF2L,upstream_gene_variant,,ENST00000397024,,,MODIFIER,,,,1;MCF2L,non_coding_transcript_exon_variant,,ENST00000486210,,n.32C>T,MODIFIER,,,,1 T ENSG00000126217 ENST00000375608 Transcript intron_variant intron_variant -/3648 -/3414 -/1137 MCF2L HGNC HGNC:14576 protein_coding ENSP00000364758 O15068 UPI0000458952 2/29 MODIFIER SNV 5 CTTCGCGGCCA 90d37dff-736a-4cc5-b347-c3560391e123 c6902ad2-5f04-49b5-bfbe-35f0f1cb00fd 0ca48821-c238-4e18-a7aa-a650c3fb5e20 N muse;mutect2;somaticsniper;varscan2 EGLN3 112399 TGen GRCh38 chr14 33949419 33949419 + Intron SNP G G A novel MMRF_2214_1_BM_CD138pos_T1_KHS5U_L08691 MMRF_2214_1_PB_Whole_C3_KHS5U_L08690 Somatic 420d2978-45d2-4aad-b72c-db68d37a380c ee2e8e8d-ba25-4c4c-9d0b-87383c2e5e00 c.357+977C>T ENST00000250457 51 28 23 94 EGLN3,3_prime_UTR_variant,,ENST00000547327,,c.*887C>T,MODIFIER,,,,-1;EGLN3,intron_variant,,ENST00000250457,NM_022073.3,c.357+977C>T,MODIFIER,YES,,,-1;EGLN3,intron_variant,,ENST00000553215,,c.75+1259C>T,MODIFIER,,,,-1;EGLN3,intron_variant,,ENST00000487915,,c.4-18204C>T,MODIFIER,,,,-1 A ENSG00000129521 ENST00000250457 Transcript intron_variant intron_variant -/2709 -/720 -/239 EGLN3 HGNC HGNC:14661 protein_coding YES CCDS9646.1 ENSP00000250457 Q9H6Z9 UPI000004F8A8 NM_022073.3 1/4 MODIFIER 1 SNV 1 GCTTCGCTGTT 90d37dff-736a-4cc5-b347-c3560391e123 c6902ad2-5f04-49b5-bfbe-35f0f1cb00fd 0ca48821-c238-4e18-a7aa-a650c3fb5e20 N muse;mutect2;somaticsniper;varscan2 NKX2-1 7080 TGen GRCh38 chr14 36517323 36517323 + Silent SNP G G A rs566854717 by1000G MMRF_2214_1_BM_CD138pos_T1_KHS5U_L08691 MMRF_2214_1_PB_Whole_C3_KHS5U_L08690 Somatic 420d2978-45d2-4aad-b72c-db68d37a380c ee2e8e8d-ba25-4c4c-9d0b-87383c2e5e00 c.1071C>T p.= p.Y357Y ENST00000498187 2/2 61 30 30 104 NKX2-1,synonymous_variant,p.Y357Y,ENST00000518149,,c.1071C>T,LOW,,,,-1;NKX2-1,synonymous_variant,p.Y357Y,ENST00000498187,NM_003317.3,c.1071C>T,LOW,,,,-1;NKX2-1,synonymous_variant,p.Y387Y,ENST00000354822,NM_001079668.2,c.1161C>T,LOW,YES,,,-1;NKX2-1,synonymous_variant,p.Y357Y,ENST00000522719,,c.1071C>T,LOW,,,,-1;SFTA3,upstream_gene_variant,,ENST00000518529,NM_001101341.1,,MODIFIER,YES,,,-1;NKX2-1,downstream_gene_variant,,ENST00000546983,,,MODIFIER,,,,-1;NKX2-1-AS1,upstream_gene_variant,,ENST00000521292,,,MODIFIER,YES,,,1;RP11-896J10.3,intron_variant,,ENST00000521945,,n.54+2145C>T,MODIFIER,YES,,,-1;SFTA3,upstream_gene_variant,,ENST00000518987,,,MODIFIER,,,,-1;SFTA3,upstream_gene_variant,,ENST00000521114,,,MODIFIER,,,,-1;SFTA3,upstream_gene_variant,,ENST00000418548,,,MODIFIER,,,,-1;SFTA3,upstream_gene_variant,,ENST00000518446,,,MODIFIER,,,,-1;SFTA3,upstream_gene_variant,,ENST00000518002,,,MODIFIER,,,,-1;SFTA3,upstream_gene_variant,,ENST00000524122,,,MODIFIER,,,,-1 A ENSG00000136352 ENST00000498187 Transcript synonymous_variant synonymous_variant 1407/2338 1071/1116 357/371 Y taC/taT rs566854717 NKX2-1 HGNC HGNC:11825 protein_coding CCDS9659.1 ENSP00000429607 P43699 UPI000013778F NM_003317.3 2/2 0.0002 0.0008 0.0 0.0 0.0 0.0 LOW SNV 1 8.246e-06 1.018e-05 0.0001212 0.0 0.0 0.0 0.0 0.0 0.0 9.417614706547127e-06 1.1419696692855838e-05 0.0001372872048325096 0.0 0.0 0.0 0.0 0.0 0.0 GTGCCGTAGTC 90d37dff-736a-4cc5-b347-c3560391e123 c6902ad2-5f04-49b5-bfbe-35f0f1cb00fd 0ca48821-c238-4e18-a7aa-a650c3fb5e20 N muse;mutect2;somaticsniper;varscan2 JDP2 122953 TGen GRCh38 chr14 75471302 75471302 + 3'Flank SNP G G A rs529085288 by1000G MMRF_2214_1_BM_CD138pos_T1_KHS5U_L08691 MMRF_2214_1_PB_Whole_C3_KHS5U_L08690 Somatic 420d2978-45d2-4aad-b72c-db68d37a380c ee2e8e8d-ba25-4c4c-9d0b-87383c2e5e00 ENST00000419727 58 40 18 87 JDP2,3_prime_UTR_variant,,ENST00000435893,NM_130469.3,c.*1827G>A,MODIFIER,,,,1;JDP2,3_prime_UTR_variant,,ENST00000437176,NM_001135048.1,c.*1827G>A,MODIFIER,,,,1;JDP2,downstream_gene_variant,,ENST00000267569,NM_001135049.1,,MODIFIER,YES,,,1;JDP2,downstream_gene_variant,,ENST00000419727,NM_001135047.1,,MODIFIER,,,,1;JDP2,downstream_gene_variant,,ENST00000559060,,,MODIFIER,,,,1 A ENSG00000140044 ENST00000419727 Transcript downstream_gene_variant downstream_gene_variant -/972 -/492 -/163 rs529085288 1504 JDP2 HGNC HGNC:17546 protein_coding CCDS9842.1 ENSP00000415558 Q8WYK2 A0A024R6D7 UPI000006F3AE NM_001135047.1 0.0002 0.0 0.0014 0.0 0.0 0.0 MODIFIER SNV 2 GGGCCGGAGCA 90d37dff-736a-4cc5-b347-c3560391e123 c6902ad2-5f04-49b5-bfbe-35f0f1cb00fd 0ca48821-c238-4e18-a7aa-a650c3fb5e20 N muse;mutect2;somaticsniper;varscan2 DIO2 1734 TGen GRCh38 chr14 80199585 80199585 + 3'UTR SNP T T G novel MMRF_2214_1_BM_CD138pos_T1_KHS5U_L08691 MMRF_2214_1_PB_Whole_C3_KHS5U_L08690 Somatic 420d2978-45d2-4aad-b72c-db68d37a380c ee2e8e8d-ba25-4c4c-9d0b-87383c2e5e00 c.*3104A>C ENST00000438257 2/2 20 10 9 59 DIO2,3_prime_UTR_variant,,ENST00000557010,NM_000793.5,c.*3104A>C,MODIFIER,,,,-1;DIO2,3_prime_UTR_variant,,ENST00000422005,NM_001242502.1&NM_001242503.1,c.*3727A>C,MODIFIER,,,,-1;DIO2,3_prime_UTR_variant,,ENST00000438257,NM_013989.4,c.*3104A>C,MODIFIER,,,,-1;DIO2,downstream_gene_variant,,ENST00000555750,NM_001007023.3,,MODIFIER,YES,,,-1;DIO2,downstream_gene_variant,,ENST00000556811,,,MODIFIER,,,,-1;DIO2,downstream_gene_variant,,ENST00000557125,,,MODIFIER,,,,-1;DIO2,downstream_gene_variant,,ENST00000555844,,,MODIFIER,,,,-1 G ENSG00000211448 ENST00000438257 Transcript 3_prime_UTR_variant 3_prime_UTR_variant 4081/6136 -/822 -/273 DIO2 HGNC HGNC:2884 protein_coding CCDS45146.1 ENSP00000405854 Q92813 UPI0000161B1B NM_013989.4 2/2 MODIFIER SNV 1 GAAAATCATTG 90d37dff-736a-4cc5-b347-c3560391e123 c6902ad2-5f04-49b5-bfbe-35f0f1cb00fd 0ca48821-c238-4e18-a7aa-a650c3fb5e20 N muse;mutect2;somaticsniper;varscan2 CALM1 801 TGen GRCh38 chr14 90405966 90405966 + 3'UTR SNP T T C novel MMRF_2214_1_BM_CD138pos_T1_KHS5U_L08691 MMRF_2214_1_PB_Whole_C3_KHS5U_L08690 Somatic 420d2978-45d2-4aad-b72c-db68d37a380c ee2e8e8d-ba25-4c4c-9d0b-87383c2e5e00 c.*1249T>C ENST00000356978 6/6 54 22 31 79 CALM1,3_prime_UTR_variant,,ENST00000356978,NM_006888.4,c.*1249T>C,MODIFIER,YES,,,1;CALM1,downstream_gene_variant,,ENST00000626705,,,MODIFIER,,,,1;CALM1,downstream_gene_variant,,ENST00000447653,,,MODIFIER,,,,1;CALM1,downstream_gene_variant,,ENST00000544280,,,MODIFIER,,,,1;CALM1,downstream_gene_variant,,ENST00000553542,,,MODIFIER,,,,1;CALM1,downstream_gene_variant,,ENST00000557020,,,MODIFIER,,,,1;RP11-471B22.2,upstream_gene_variant,,ENST00000555853,,,MODIFIER,YES,,,-1;CALM1,downstream_gene_variant,,ENST00000553964,,,MODIFIER,,,,1;CALM1,downstream_gene_variant,,ENST00000553630,,,MODIFIER,,,,1;CALM1,downstream_gene_variant,,ENST00000556757,,,MODIFIER,,,,1;CALM1,downstream_gene_variant,,ENST00000553995,,,MODIFIER,,,,1;CALM1,downstream_gene_variant,,ENST00000555267,,,MODIFIER,,,,1;CALM1,downstream_gene_variant,,ENST00000554296,,,MODIFIER,,,,1;CALM1,downstream_gene_variant,,ENST00000556721,,,MODIFIER,,,,1;CALM1,downstream_gene_variant,,ENST00000553422,,,MODIFIER,,,,1 C ENSG00000198668 ENST00000356978 Transcript 3_prime_UTR_variant 3_prime_UTR_variant 1947/4242 -/450 -/149 CALM1 HGNC HGNC:1442 protein_coding YES CCDS9892.1 ENSP00000349467 P62158 B4DJ51 UPI00000000C1 NM_006888.4 6/6 MODIFIER 1 SNV 1 TCTTATGTAAC 90d37dff-736a-4cc5-b347-c3560391e123 c6902ad2-5f04-49b5-bfbe-35f0f1cb00fd 0ca48821-c238-4e18-a7aa-a650c3fb5e20 N muse;mutect2;somaticsniper;varscan2 DYNC1H1 1778 TGen GRCh38 chr14 102049539 102049539 + Missense_Mutation SNP A A T novel MMRF_2214_1_BM_CD138pos_T1_KHS5U_L08691 MMRF_2214_1_PB_Whole_C3_KHS5U_L08690 Somatic 420d2978-45d2-4aad-b72c-db68d37a380c ee2e8e8d-ba25-4c4c-9d0b-87383c2e5e00 c.13472A>T p.Asn4491Ile p.N4491I ENST00000360184 75/78 90 52 38 125 DYNC1H1,missense_variant,p.N4491I,ENST00000360184,NM_001376.4,c.13472A>T,MODERATE,YES,,benign(0.102),1;RP11-1017G21.4,intron_variant,,ENST00000557242,,n.328+2988T>A,MODIFIER,,,,-1;RP11-1017G21.4,intron_variant,,ENST00000553701,,n.346+906T>A,MODIFIER,,,,-1;DYNC1H1,non_coding_transcript_exon_variant,,ENST00000555062,,n.522A>T,MODIFIER,,,,1;DYNC1H1,downstream_gene_variant,,ENST00000556229,,,MODIFIER,,,,1 T ENSG00000197102 ENST00000360184 Transcript missense_variant missense_variant 13636/14333 13472/13941 4491/4646 N/I aAc/aTc DYNC1H1 HGNC HGNC:2961 protein_coding YES CCDS9966.1 ENSP00000348965 Q14204 UPI00001B515A NM_001376.4 benign(0.102) 75/78 Pfam_domain:PF03028 MODERATE 1 SNV 1 GCAGAACATCT 90d37dff-736a-4cc5-b347-c3560391e123 c6902ad2-5f04-49b5-bfbe-35f0f1cb00fd 0ca48821-c238-4e18-a7aa-a650c3fb5e20 N muse;mutect2;somaticsniper;varscan2 IGHV1-2 28474 TGen GRCh38 chr14 105986974 105986974 + Missense_Mutation SNP C C G novel MMRF_2214_1_BM_CD138pos_T1_KHS5U_L08691 MMRF_2214_1_PB_Whole_C3_KHS5U_L08690 Somatic 420d2978-45d2-4aad-b72c-db68d37a380c ee2e8e8d-ba25-4c4c-9d0b-87383c2e5e00 c.46G>C p.Gly16Arg p.G16R ENST00000390594 1/2 73 47 26 134 IGHV1-2,missense_variant,p.G16R,ENST00000390594,,c.46G>C,MODERATE,YES,deleterious(0.02),benign(0.365),-1;IGHM,intron_variant,,ENST00000613516,,c.376+69209G>C,MODIFIER,,,,-1;IGHG3,intron_variant,,ENST00000621473,,c.369+18103G>C,MODIFIER,,,,-1;IGHG1,intron_variant,,ENST00000618756,,c.390+18077G>C,MODIFIER,YES,,,-1;IGHG1,intron_variant,,ENST00000619212,,c.373+75155G>C,MODIFIER,,,,-1;IGHG1,intron_variant,,ENST00000615822,,c.352+75176G>C,MODIFIER,,,,-1;IGHG1,intron_variant,,ENST00000613152,,c.360+68561G>C,MODIFIER,,,,-1;IGHG3,intron_variant,,ENST00000616127,,c.382+50900G>C,MODIFIER,YES,,,-1;IGHG1,intron_variant,,ENST00000618145,,c.335+24966G>C,MODIFIER,,,,-1;IGHG1,intron_variant,,ENST00000612473,,c.47-86G>C,MODIFIER,,,,-1 G ENSG00000211934 ENST00000390594 Transcript missense_variant missense_variant;splice_region_variant 110/417 46/353 16/117 G/R Gga/Cga IGHV1-2 HGNC HGNC:5550 IG_V_gene YES ENSP00000375003 A0A087WSX2 UPI00034F2390 deleterious(0.02) benign(0.365) 1/2 Cleavage_site_(Signalp):Sigp MODERATE 1 SNV CTTACCTGTGG 90d37dff-736a-4cc5-b347-c3560391e123 c6902ad2-5f04-49b5-bfbe-35f0f1cb00fd 0ca48821-c238-4e18-a7aa-a650c3fb5e20 N muse;somaticsniper;varscan2 IGHV2-70 28454 TGen GRCh38 chr14 106723631 106723631 + Missense_Mutation SNP G G A novel MMRF_2214_1_BM_CD138pos_T1_KHS5U_L08691 MMRF_2214_1_PB_Whole_C3_KHS5U_L08690 Somatic 420d2978-45d2-4aad-b72c-db68d37a380c ee2e8e8d-ba25-4c4c-9d0b-87383c2e5e00 c.301C>T p.Leu101Phe p.L101F ENST00000390634 2/2 74 64 10 109 IGHV2-70,missense_variant,p.L101F,ENST00000390634,,c.301C>T,MODERATE,YES,deleterious(0.02),possibly_damaging(0.802),-1 A ENSG00000211974 ENST00000390634 Transcript missense_variant missense_variant 377/434 301/358 101/119 L/F Ctt/Ttt IGHV2-70 Clone_based_vega_gene HGNC:5577 IG_V_gene YES ENSP00000375043 UPI0002C6CE0B deleterious(0.02) possibly_damaging(0.802) 2/2 Pfam_domain:PF07686;PROSITE_profiles:PS50835;SMART_domains:SM00406;Superfamily_domains:SSF48726 MODERATE 1 SNV TGTAAGGACCA 90d37dff-736a-4cc5-b347-c3560391e123 c6902ad2-5f04-49b5-bfbe-35f0f1cb00fd 0ca48821-c238-4e18-a7aa-a650c3fb5e20 N muse;mutect2;varscan2 IGHV2-70 28454 TGen GRCh38 chr14 106723807 106723807 + Missense_Mutation SNP G G A MMRF_2214_1_BM_CD138pos_T1_KHS5U_L08691 MMRF_2214_1_PB_Whole_C3_KHS5U_L08690 Somatic 420d2978-45d2-4aad-b72c-db68d37a380c ee2e8e8d-ba25-4c4c-9d0b-87383c2e5e00 c.125C>T p.Thr42Ile p.T42I ENST00000390634 2/2 72 46 26 165 IGHV2-70,missense_variant,p.T42I,ENST00000390634,,c.125C>T,MODERATE,YES,deleterious(0),possibly_damaging(0.842),-1 A ENSG00000211974 ENST00000390634 Transcript missense_variant missense_variant 201/434 125/358 42/119 T/I aCc/aTc IGHV2-70 Clone_based_vega_gene HGNC:5577 IG_V_gene YES ENSP00000375043 UPI0002C6CE0B deleterious(0) possibly_damaging(0.842) 2/2 Pfam_domain:PF07686;PROSITE_profiles:PS50835;SMART_domains:SM00406;Superfamily_domains:SSF48726 MODERATE 1 SNV AGAAGGTGCAG 90d37dff-736a-4cc5-b347-c3560391e123 c6902ad2-5f04-49b5-bfbe-35f0f1cb00fd 0ca48821-c238-4e18-a7aa-a650c3fb5e20 COSN20088523;COSN23257928 N muse;mutect2;varscan2 IGHV2-70 28454 TGen GRCh38 chr14 106770633 106770633 + Missense_Mutation SNP A A T rs188731942 by1000G;byFrequency MMRF_2214_1_BM_CD138pos_T1_KHS5U_L08691 MMRF_2214_1_PB_Whole_C3_KHS5U_L08690 Somatic 420d2978-45d2-4aad-b72c-db68d37a380c ee2e8e8d-ba25-4c4c-9d0b-87383c2e5e00 c.302T>A p.Leu101His p.L101H ENST00000617374 2/2 42 30 10 68 IGHV2-70,missense_variant,p.L101H,ENST00000617374,28454,c.302T>A,MODERATE,YES,deleterious(0),probably_damaging(0.996),-1;IGHV3-71,downstream_gene_variant,,ENST00000523324,,,MODIFIER,YES,,,-1 T ENSG00000274576 ENST00000617374 Transcript missense_variant missense_variant 302/358 302/358 101/119 L/H cTt/cAt rs188731942 IGHV2-70 HGNC HGNC:5577 IG_V_gene YES ENSP00000485200 A0A0B4J2H3 UPI000011AAC1 28454 deleterious(0) probably_damaging(0.996) 2/2 Pfam_domain:PF07686;PROSITE_profiles:PS50835;SMART_domains:SM00406;Superfamily_domains:SSF48726 MODERATE 1 SNV 1.653e-05 1.656e-05 0.0 0.0 0.0 0.0 2.997e-05 0.0 0.0 1.8900376117484737e-05 1.8941187612463302e-05 0.0 0.0 0.0 0.0 3.6806654643159485e-05 0.0 0.0 TTGTAAGGACC 90d37dff-736a-4cc5-b347-c3560391e123 c6902ad2-5f04-49b5-bfbe-35f0f1cb00fd 0ca48821-c238-4e18-a7aa-a650c3fb5e20 N muse;varscan2 IGHV2-70 28454 TGen GRCh38 chr14 106770634 106770634 + Missense_Mutation SNP G G A rs557763852 byCluster;byFrequency MMRF_2214_1_BM_CD138pos_T1_KHS5U_L08691 MMRF_2214_1_PB_Whole_C3_KHS5U_L08690 Somatic 420d2978-45d2-4aad-b72c-db68d37a380c ee2e8e8d-ba25-4c4c-9d0b-87383c2e5e00 c.301C>T p.Leu101Phe p.L101F ENST00000617374 2/2 43 32 10 70 IGHV2-70,missense_variant,p.L101F,ENST00000617374,28454,c.301C>T,MODERATE,YES,deleterious(0.03),possibly_damaging(0.849),-1;IGHV3-71,downstream_gene_variant,,ENST00000523324,,,MODIFIER,YES,,,-1 A ENSG00000274576 ENST00000617374 Transcript missense_variant missense_variant 301/358 301/358 101/119 L/F Ctt/Ttt rs557763852 IGHV2-70 HGNC HGNC:5577 IG_V_gene YES ENSP00000485200 A0A0B4J2H3 UPI000011AAC1 28454 deleterious(0.03) possibly_damaging(0.849) 2/2 Pfam_domain:PF07686;PROSITE_profiles:PS50835;SMART_domains:SM00406;Superfamily_domains:SSF48726 MODERATE 1 SNV 7.438e-05 7.453e-05 0.0004078 0.0 0.000116 0.0 5.994e-05 0.0 0.0 8.505330006804264e-05 8.52434173138852e-05 0.0004720320981826764 0.0 0.00012751849018107625 0.0 7.36078907658901e-05 0.0 0.0 TGTAAGGACCA 90d37dff-736a-4cc5-b347-c3560391e123 c6902ad2-5f04-49b5-bfbe-35f0f1cb00fd 0ca48821-c238-4e18-a7aa-a650c3fb5e20 N muse;varscan2 IGHV2-70 28454 TGen GRCh38 chr14 106770644 106770644 + Silent SNP G G A rs55887414 by1000G;byCluster;byFrequency MMRF_2214_1_BM_CD138pos_T1_KHS5U_L08691 MMRF_2214_1_PB_Whole_C3_KHS5U_L08690 Somatic 420d2978-45d2-4aad-b72c-db68d37a380c ee2e8e8d-ba25-4c4c-9d0b-87383c2e5e00 c.291C>T p.= p.N97N ENST00000617374 2/2 48 24 24 87 IGHV2-70,synonymous_variant,p.N97N,ENST00000617374,28454,c.291C>T,LOW,YES,,,-1;IGHV3-71,downstream_gene_variant,,ENST00000523324,,,MODIFIER,YES,,,-1 A ENSG00000274576 ENST00000617374 Transcript synonymous_variant synonymous_variant 291/358 291/358 97/119 N aaC/aaT rs55887414 IGHV2-70 HGNC HGNC:5577 IG_V_gene YES ENSP00000485200 A0A0B4J2H3 UPI000011AAC1 28454 2/2 Pfam_domain:PF07686;PROSITE_profiles:PS50835;SMART_domains:SM00406;Superfamily_domains:SSF48726 0.0002 0.0005 LOW 1 SNV 0.0001818 0.0001739 0.0005099 0.0001728 0.000232 0.0 0.0001499 0.0 0.0001211 0.00020790413729233212 0.0001989389920424403 0.0005901794145420207 0.0001784121320249777 0.0002550369803621525 0.0 0.0001840739240879137 0.0 0.00012190661952944045 ACCTGGTTTTT 90d37dff-736a-4cc5-b347-c3560391e123 c6902ad2-5f04-49b5-bfbe-35f0f1cb00fd 0ca48821-c238-4e18-a7aa-a650c3fb5e20 N muse;varscan2 MIR5195 100847062 TGen GRCh38 chr14 106851324 106851324 + 5'Flank SNP C C G rs572738324 by1000G MMRF_2214_1_BM_CD138pos_T1_KHS5U_L08691 MMRF_2214_1_PB_Whole_C3_KHS5U_L08690 Somatic 420d2978-45d2-4aad-b72c-db68d37a380c ee2e8e8d-ba25-4c4c-9d0b-87383c2e5e00 ENST00000583555 120 72 48 204 MIR5195,upstream_gene_variant,,ENST00000583555,,,MODIFIER,YES,,,-1;IGHV5-78,non_coding_transcript_exon_variant,,ENST00000450948,,n.94G>C,MODIFIER,YES,,,-1 G ENSG00000265929 ENST00000583555 Transcript upstream_gene_variant upstream_gene_variant -/115 rs572738324 325 MIR5195 HGNC HGNC:43526 miRNA YES MODIFIER SNV 1.673e-05 5.623e-05 0.0 0.0 0.0 0.0 0.000109 0.0 0.0 1.9145718060155847e-05 7.047713017125943e-05 0.0 0.0 0.0 0.0 0.00015867978419549348 0.0 0.0 TAAAGCTGTAT 90d37dff-736a-4cc5-b347-c3560391e123 c6902ad2-5f04-49b5-bfbe-35f0f1cb00fd 0ca48821-c238-4e18-a7aa-a650c3fb5e20 N muse;mutect2;somaticsniper;varscan2 GREM1 26585 TGen GRCh38 chr15 32718611 32718611 + Intron SNP G G T novel MMRF_2214_1_BM_CD138pos_T1_KHS5U_L08691 MMRF_2214_1_PB_Whole_C3_KHS5U_L08690 Somatic 420d2978-45d2-4aad-b72c-db68d37a380c ee2e8e8d-ba25-4c4c-9d0b-87383c2e5e00 c.-2+450G>T ENST00000622074 74 56 18 51 GREM1,intron_variant,,ENST00000622074,NM_013372.6,c.-2+450G>T,MODIFIER,YES,,,1;GREM1,intron_variant,,ENST00000560830,NM_001191323.1,c.-2+450G>T,MODIFIER,,,,1;GREM1,intron_variant,,ENST00000560677,,c.-2+450G>T,MODIFIER,,,,1;RP11-758N13.1,non_coding_transcript_exon_variant,,ENST00000558441,,n.397C>A,MODIFIER,YES,,,-1;RP11-758N13.1,non_coding_transcript_exon_variant,,ENST00000560363,,n.244C>A,MODIFIER,,,,-1 T ENSG00000166923 ENST00000622074 Transcript intron_variant intron_variant -/14606 -/555 -/184 GREM1 HGNC HGNC:2001 protein_coding YES CCDS10029.1 ENSP00000478319 O60565 A6XAA7 UPI0000073D48 NM_013372.6 1/1 MODIFIER 1 SNV 1 GCCGCGCTGGG 90d37dff-736a-4cc5-b347-c3560391e123 c6902ad2-5f04-49b5-bfbe-35f0f1cb00fd 0ca48821-c238-4e18-a7aa-a650c3fb5e20 N muse;mutect2;somaticsniper;varscan2 LARP6 55323 TGen GRCh38 chr15 70832067 70832067 + Missense_Mutation SNP G G T novel MMRF_2214_1_BM_CD138pos_T1_KHS5U_L08691 MMRF_2214_1_PB_Whole_C3_KHS5U_L08690 Somatic 420d2978-45d2-4aad-b72c-db68d37a380c ee2e8e8d-ba25-4c4c-9d0b-87383c2e5e00 c.1461C>A p.Ser487Arg p.S487R ENST00000299213 3/3 218 183 35 162 LARP6,missense_variant,p.S487R,ENST00000299213,NM_018357.3,c.1461C>A,MODERATE,YES,tolerated_low_confidence(0.8),benign(0.001),-1;LARP6,downstream_gene_variant,,ENST00000559316,,,MODIFIER,,,,-1 T ENSG00000166173 ENST00000299213 Transcript missense_variant missense_variant 1532/4469 1461/1476 487/491 S/R agC/agA LARP6 HGNC HGNC:24012 protein_coding YES CCDS32281.1 ENSP00000299213 Q9BRS8 UPI0000073C63 NM_018357.3 tolerated_low_confidence(0.8) benign(0.001) 3/3 MODERATE 1 SNV 1 GCCCTGCTCCT 90d37dff-736a-4cc5-b347-c3560391e123 c6902ad2-5f04-49b5-bfbe-35f0f1cb00fd 0ca48821-c238-4e18-a7aa-a650c3fb5e20 N muse;mutect2;varscan2 IMP3 55272 TGen GRCh38 chr15 75640222 75640222 + 5'UTR SNP C C T novel MMRF_2214_1_BM_CD138pos_T1_KHS5U_L08691 MMRF_2214_1_PB_Whole_C3_KHS5U_L08690 Somatic 420d2978-45d2-4aad-b72c-db68d37a380c ee2e8e8d-ba25-4c4c-9d0b-87383c2e5e00 c.-54G>A ENST00000314852 2/2 75 61 14 66 IMP3,5_prime_UTR_variant,,ENST00000314852,,c.-54G>A,MODIFIER,YES,,,-1;IMP3,5_prime_UTR_variant,,ENST00000403490,NM_018285.3,c.-54G>A,MODIFIER,,,,-1;CTD-2026K11.4,non_coding_transcript_exon_variant,,ENST00000621523,,n.463C>T,MODIFIER,YES,,,1;CTD-2026K11.2,downstream_gene_variant,,ENST00000564683,,,MODIFIER,YES,,,1;CTD-2026K11.5,upstream_gene_variant,,ENST00000614810,,,MODIFIER,YES,,,1;IMP3,downstream_gene_variant,,ENST00000565349,,,MODIFIER,,,,-1 T ENSG00000177971 ENST00000314852 Transcript 5_prime_UTR_variant 5_prime_UTR_variant 891/2028 -/555 -/184 IMP3 HGNC HGNC:14497 protein_coding YES CCDS10282.1 ENSP00000326981 Q9NV31 UPI0000037BF5 2/2 MODIFIER 1 SNV 2 GCATCCGCGCG 90d37dff-736a-4cc5-b347-c3560391e123 c6902ad2-5f04-49b5-bfbe-35f0f1cb00fd 0ca48821-c238-4e18-a7aa-a650c3fb5e20 N muse;mutect2;somaticsniper;varscan2 ARNT2 9915 TGen GRCh38 chr15 80596011 80596011 + 3'UTR SNP C C A novel MMRF_2214_1_BM_CD138pos_T1_KHS5U_L08691 MMRF_2214_1_PB_Whole_C3_KHS5U_L08690 Somatic 420d2978-45d2-4aad-b72c-db68d37a380c ee2e8e8d-ba25-4c4c-9d0b-87383c2e5e00 c.*2313C>A ENST00000303329 19/19 105 84 21 74 ARNT2,3_prime_UTR_variant,,ENST00000533983,,c.*2313C>A,MODIFIER,,,,1;ARNT2,3_prime_UTR_variant,,ENST00000303329,NM_014862.3,c.*2313C>A,MODIFIER,YES,,,1;ARNT2,3_prime_UTR_variant,,ENST00000610490,,c.*2765C>A,MODIFIER,,,,1;ARNT2,intron_variant,,ENST00000622346,,c.2084-1184C>A,MODIFIER,,,,1;ARNT2,downstream_gene_variant,,ENST00000527771,,,MODIFIER,,,,1 A ENSG00000172379 ENST00000303329 Transcript 3_prime_UTR_variant 3_prime_UTR_variant 4632/6558 -/2154 -/717 ARNT2 HGNC HGNC:16876 protein_coding YES CCDS32307.1 ENSP00000307479 Q9HBZ2 X5DQN9 UPI00001FEA05 NM_014862.3 19/19 MODIFIER 1 SNV 1 TGCCTCTTCTG 90d37dff-736a-4cc5-b347-c3560391e123 c6902ad2-5f04-49b5-bfbe-35f0f1cb00fd 0ca48821-c238-4e18-a7aa-a650c3fb5e20 N muse;mutect2;somaticsniper;varscan2 UBE2I 7329 TGen GRCh38 chr16 1308807 1308807 + 5'Flank SNP G G T novel MMRF_2214_1_BM_CD138pos_T1_KHS5U_L08691 MMRF_2214_1_PB_Whole_C3_KHS5U_L08690 Somatic 420d2978-45d2-4aad-b72c-db68d37a380c ee2e8e8d-ba25-4c4c-9d0b-87383c2e5e00 ENST00000325437 32 18 14 28 UBE2I,upstream_gene_variant,,ENST00000355803,NM_194260.2,,MODIFIER,YES,,,1;UBE2I,upstream_gene_variant,,ENST00000397515,NM_194259.2,,MODIFIER,,,,1;UBE2I,upstream_gene_variant,,ENST00000397514,NM_003345.4,,MODIFIER,,,,1;UBE2I,upstream_gene_variant,,ENST00000325437,NM_194261.2,,MODIFIER,,,,1;UBE2I,upstream_gene_variant,,ENST00000406620,,,MODIFIER,,,,1;UBE2I,upstream_gene_variant,,ENST00000403747,,,MODIFIER,,,,1;UBE2I,upstream_gene_variant,,ENST00000566587,,,MODIFIER,,,,1;UBE2I,upstream_gene_variant,,ENST00000567074,,,MODIFIER,,,,1;UBE2I,upstream_gene_variant,,ENST00000567383,,,MODIFIER,,,,1;LA16c-358B7.4,non_coding_transcript_exon_variant,,ENST00000339021,,n.607C>A,MODIFIER,YES,,,-1;UBE2I,upstream_gene_variant,,ENST00000568288,,,MODIFIER,,,,1;UBE2I,upstream_gene_variant,,ENST00000562470,,,MODIFIER,,,,1;UBE2I,upstream_gene_variant,,ENST00000568209,,,MODIFIER,,,,1;UBE2I,upstream_gene_variant,,ENST00000473256,,,MODIFIER,,,,1;UBE2I,upstream_gene_variant,,ENST00000562482,,,MODIFIER,,,,1 T ENSG00000103275 ENST00000325437 Transcript upstream_gene_variant upstream_gene_variant -/2832 -/477 -/158 346 UBE2I HGNC HGNC:12485 protein_coding CCDS10433.1 ENSP00000324897 P63279 UPI00000010F8 NM_194261.2 MODIFIER SNV 3 CGGGAGAGCCC 90d37dff-736a-4cc5-b347-c3560391e123 c6902ad2-5f04-49b5-bfbe-35f0f1cb00fd 0ca48821-c238-4e18-a7aa-a650c3fb5e20 N muse;mutect2;somaticsniper;varscan2 SLC9A3R2 9351 TGen GRCh38 chr16 2029574 2029574 + Splice_Region SNP C C A novel MMRF_2214_1_BM_CD138pos_T1_KHS5U_L08691 MMRF_2214_1_PB_Whole_C3_KHS5U_L08690 Somatic 420d2978-45d2-4aad-b72c-db68d37a380c ee2e8e8d-ba25-4c4c-9d0b-87383c2e5e00 c.214-8C>A ENST00000424542 28 14 14 29 SLC9A3R2,splice_region_variant,,ENST00000424542,NM_001130012.2,c.214-8C>A,LOW,YES,,,1;SLC9A3R2,splice_region_variant,,ENST00000432365,NM_004785.5,c.214-8C>A,LOW,,,,1;SLC9A3R2,splice_region_variant,,ENST00000567504,,c.187-8C>A,LOW,,,,1;SLC9A3R2,5_prime_UTR_variant,,ENST00000563587,,c.-113C>A,MODIFIER,,,,1;SLC9A3R2,upstream_gene_variant,,ENST00000566198,NM_001252073.1&NM_001252076.1,,MODIFIER,,,,1;SLC9A3R2,upstream_gene_variant,,ENST00000565855,NM_001252075.1,,MODIFIER,,,,1;SLC9A3R2,upstream_gene_variant,,ENST00000561844,,,MODIFIER,,,,1;SLC9A3R2,upstream_gene_variant,,ENST00000565086,,,MODIFIER,,,,1 A ENSG00000065054 ENST00000424542 Transcript splice_region_variant splice_region_variant;intron_variant -/2194 -/1014 -/337 SLC9A3R2 HGNC HGNC:11076 protein_coding YES CCDS45382.1 ENSP00000408005 Q15599 UPI0000070578 NM_001130012.2 1/6 LOW 1 SNV 1 CCATTCGCCCC 90d37dff-736a-4cc5-b347-c3560391e123 c6902ad2-5f04-49b5-bfbe-35f0f1cb00fd 0ca48821-c238-4e18-a7aa-a650c3fb5e20 N muse;mutect2;somaticsniper;varscan2 KNOP1 400506 TGen GRCh38 chr16 19714267 19714267 + Missense_Mutation SNP G G A novel MMRF_2214_1_BM_CD138pos_T1_KHS5U_L08691 MMRF_2214_1_PB_Whole_C3_KHS5U_L08690 Somatic 420d2978-45d2-4aad-b72c-db68d37a380c ee2e8e8d-ba25-4c4c-9d0b-87383c2e5e00 c.769C>T p.Pro257Ser p.P257S ENST00000219837 2/5 78 33 44 129 KNOP1,missense_variant,p.P257S,ENST00000219837,NM_001012991.2,c.769C>T,MODERATE,YES,deleterious(0.05),probably_damaging(0.988),-1;KNOP1,missense_variant,p.P105S,ENST00000567367,,c.311C>T,MODERATE,,tolerated(0.07),probably_damaging(0.981),-1;IQCK,upstream_gene_variant,,ENST00000320394,NM_153208.1,,MODIFIER,YES,,,1;KNOP1,upstream_gene_variant,,ENST00000568230,,,MODIFIER,,,,-1;KNOP1,downstream_gene_variant,,ENST00000564480,,,MODIFIER,,,,-1;IQCK,upstream_gene_variant,,ENST00000564186,,,MODIFIER,,,,1;AC002550.5,intron_variant,,ENST00000565916,,n.782-519G>A,MODIFIER,YES,,,1;KNOP1,non_coding_transcript_exon_variant,,ENST00000565844,,n.849C>T,MODIFIER,,,,-1;IQCK,upstream_gene_variant,,ENST00000308214,,,MODIFIER,,,,1;IQCK,upstream_gene_variant,,ENST00000568300,,,MODIFIER,,,,1;IQCK,upstream_gene_variant,,ENST00000568126,,,MODIFIER,,,,1;IQCK,upstream_gene_variant,,ENST00000561839,,,MODIFIER,,,,1;IQCK,upstream_gene_variant,,ENST00000564955,,,MODIFIER,,,,1;IQCK,upstream_gene_variant,,ENST00000561935,,,MODIFIER,,,,1;IQCK,upstream_gene_variant,,ENST00000564515,,,MODIFIER,,,,1;IQCK,upstream_gene_variant,,ENST00000566312,,,MODIFIER,,,,1 A ENSG00000103550 ENST00000219837 Transcript missense_variant missense_variant 848/6432 769/1377 257/458 P/S Ccc/Tcc KNOP1 HGNC HGNC:34404 protein_coding YES CCDS42127.1 ENSP00000219837 Q1ED39 UPI00001982F5 NM_001012991.2 deleterious(0.05) probably_damaging(0.988) 2/5 PROSITE_profiles:PS50318 MODERATE 1 SNV 1 TATGGGGATGT 90d37dff-736a-4cc5-b347-c3560391e123 c6902ad2-5f04-49b5-bfbe-35f0f1cb00fd 0ca48821-c238-4e18-a7aa-a650c3fb5e20 N muse;mutect2;somaticsniper;varscan2 SBK1 388228 TGen GRCh38 chr16 28321220 28321220 + 3'UTR SNP C C T novel MMRF_2214_1_BM_CD138pos_T1_KHS5U_L08691 MMRF_2214_1_PB_Whole_C3_KHS5U_L08690 Somatic 420d2978-45d2-4aad-b72c-db68d37a380c ee2e8e8d-ba25-4c4c-9d0b-87383c2e5e00 c.*299C>T ENST00000341901 4/4 48 41 7 46 SBK1,3_prime_UTR_variant,,ENST00000341901,NM_001024401.2,c.*299C>T,MODIFIER,YES,,,1 T ENSG00000188322 ENST00000341901 Transcript 3_prime_UTR_variant 3_prime_UTR_variant 2363/4992 -/1275 -/424 SBK1 HGNC HGNC:17699 protein_coding YES CCDS32416.1 ENSP00000343248 Q52WX2 UPI0000047D05 NM_001024401.2 4/4 MODIFIER 1 SNV 1 ACACACACACA 90d37dff-736a-4cc5-b347-c3560391e123 c6902ad2-5f04-49b5-bfbe-35f0f1cb00fd 0ca48821-c238-4e18-a7aa-a650c3fb5e20 N mutect2;varscan2 IST1 9798 TGen GRCh38 chr16 71928850 71928850 + 3'UTR SNP C C G novel MMRF_2214_1_BM_CD138pos_T1_KHS5U_L08691 MMRF_2214_1_PB_Whole_C3_KHS5U_L08690 Somatic 420d2978-45d2-4aad-b72c-db68d37a380c ee2e8e8d-ba25-4c4c-9d0b-87383c2e5e00 c.*1037C>G ENST00000535424 10/10 140 60 79 267 IST1,3_prime_UTR_variant,,ENST00000378799,NM_001270975.1,c.*1037C>G,MODIFIER,,,,1;IST1,3_prime_UTR_variant,,ENST00000535424,NM_001270976.1,c.*1037C>G,MODIFIER,YES,,,1;IST1,3_prime_UTR_variant,,ENST00000606369,NM_001270979.1&NM_001270978.1,c.*1037C>G,MODIFIER,,,,1;IST1,3_prime_UTR_variant,,ENST00000329908,NM_014761.3,c.*1051C>G,MODIFIER,,,,1;IST1,3_prime_UTR_variant,,ENST00000378798,NM_001270977.1,c.*1037C>G,MODIFIER,,,,1;IST1,3_prime_UTR_variant,,ENST00000456820,,c.*1037C>G,MODIFIER,,,,1;PKD1L3,downstream_gene_variant,,ENST00000620267,NM_181536.1,,MODIFIER,YES,,,-1;IST1,downstream_gene_variant,,ENST00000541571,,,MODIFIER,,,,1;IST1,downstream_gene_variant,,ENST00000544564,,,MODIFIER,,,,1;IST1,downstream_gene_variant,,ENST00000538850,,,MODIFIER,,,,1;IST1,downstream_gene_variant,,ENST00000538565,,,MODIFIER,,,,1;IST1,3_prime_UTR_variant,,ENST00000439924,,c.*1548C>G,MODIFIER,,,,1;IST1,downstream_gene_variant,,ENST00000536027,,,MODIFIER,,,,1;IST1,downstream_gene_variant,,ENST00000541180,,,MODIFIER,,,,1 G ENSG00000182149 ENST00000535424 Transcript 3_prime_UTR_variant 3_prime_UTR_variant 2293/4082 -/1140 -/379 IST1 HGNC HGNC:28977 protein_coding YES CCDS59271.1 ENSP00000438399 P53990 UPI00001FF5EB NM_001270976.1 10/10 MODIFIER SNV 2 GTCATCCTTCC 90d37dff-736a-4cc5-b347-c3560391e123 c6902ad2-5f04-49b5-bfbe-35f0f1cb00fd 0ca48821-c238-4e18-a7aa-a650c3fb5e20 N muse;mutect2;somaticsniper;varscan2 TCF25 22980 TGen GRCh38 chr16 89906166 89906166 + Intron SNP G G C novel MMRF_2214_1_BM_CD138pos_T1_KHS5U_L08691 MMRF_2214_1_PB_Whole_C3_KHS5U_L08690 Somatic 420d2978-45d2-4aad-b72c-db68d37a380c ee2e8e8d-ba25-4c4c-9d0b-87383c2e5e00 c.1629-28G>C ENST00000263346 32 16 16 55 TCF25,intron_variant,,ENST00000263347,,c.924-28G>C,MODIFIER,,,,1;TCF25,intron_variant,,ENST00000263346,NM_014972.2,c.1629-28G>C,MODIFIER,YES,,,1;TCF25,intron_variant,,ENST00000562256,,c.1213-28G>C,MODIFIER,,,,1;TCF25,downstream_gene_variant,,ENST00000568409,,,MODIFIER,,,,1;TCF25,downstream_gene_variant,,ENST00000562193,,,MODIFIER,,,,1;TCF25,upstream_gene_variant,,ENST00000566283,,,MODIFIER,,,,1;TCF25,upstream_gene_variant,,ENST00000564957,,,MODIFIER,,,,1;TCF25,upstream_gene_variant,,ENST00000565860,,,MODIFIER,,,,1;RP11-566K11.7,non_coding_transcript_exon_variant,,ENST00000570217,,n.10G>C,MODIFIER,YES,,,1;TCF25,intron_variant,,ENST00000570116,,n.1433-28G>C,MODIFIER,,,,1;TCF25,intron_variant,,ENST00000563484,,n.89-28G>C,MODIFIER,,,,1;TCF25,upstream_gene_variant,,ENST00000567171,,,MODIFIER,,,,1 C ENSG00000141002 ENST00000263346 Transcript intron_variant intron_variant -/2233 -/2031 -/676 TCF25 HGNC HGNC:29181 protein_coding YES CCDS10987.1 ENSP00000263346 Q9BQ70 UPI000012A80B NM_014972.2 14/17 MODIFIER 1 SNV 1 TATCTGCTGTG 90d37dff-736a-4cc5-b347-c3560391e123 c6902ad2-5f04-49b5-bfbe-35f0f1cb00fd 0ca48821-c238-4e18-a7aa-a650c3fb5e20 N muse;mutect2;somaticsniper KDM6B 23135 TGen GRCh38 chr17 7846439 7846439 + Nonsense_Mutation SNP C C T MMRF_2214_1_BM_CD138pos_T1_KHS5U_L08691 MMRF_2214_1_PB_Whole_C3_KHS5U_L08690 Somatic 420d2978-45d2-4aad-b72c-db68d37a380c ee2e8e8d-ba25-4c4c-9d0b-87383c2e5e00 c.496C>T p.Arg166Ter p.R166* ENST00000448097 7/23 81 42 39 105 KDM6B,stop_gained,p.R166*,ENST00000254846,NM_001080424.1,c.496C>T,HIGH,YES,,,1;KDM6B,stop_gained,p.R166*,ENST00000448097,,c.496C>T,HIGH,,,,1;KDM6B,stop_gained,p.R166*,ENST00000570632,,c.496C>T,HIGH,,,,1;KDM6B,downstream_gene_variant,,ENST00000571047,,,MODIFIER,,,,1;KDM6B,downstream_gene_variant,,ENST00000575521,,,MODIFIER,,,,1 T ENSG00000132510 ENST00000448097 Transcript stop_gained stop_gained 827/5422 496/4932 166/1643 R/* Cga/Tga KDM6B HGNC HGNC:29012 protein_coding ENSP00000412513 O15054 UPI00001C1FC7 7/23 Superfamily_domains:SSF48452 HIGH SNV 5 AGCACCGAGCC 90d37dff-736a-4cc5-b347-c3560391e123 c6902ad2-5f04-49b5-bfbe-35f0f1cb00fd 0ca48821-c238-4e18-a7aa-a650c3fb5e20 COSM3378377 N muse;mutect2;somaticsniper;varscan2 USP43 124739 TGen GRCh38 chr17 9728622 9728622 + Missense_Mutation SNP G G A novel MMRF_2214_1_BM_CD138pos_T1_KHS5U_L08691 MMRF_2214_1_PB_Whole_C3_KHS5U_L08690 Somatic 420d2978-45d2-4aad-b72c-db68d37a380c ee2e8e8d-ba25-4c4c-9d0b-87383c2e5e00 c.3004G>A p.Val1002Met p.V1002M ENST00000285199 15/15 129 72 57 195 USP43,missense_variant,p.V1002M,ENST00000285199,NM_153210.4,c.3004G>A,MODERATE,YES,tolerated(0.31),benign(0.043),1;USP43,missense_variant,p.V997M,ENST00000570475,NM_001267576.1,c.2989G>A,MODERATE,,tolerated(0.31),benign(0.043),1;USP43,missense_variant,p.V789M,ENST00000574408,,c.2363G>A,MODERATE,,tolerated(0.3),benign(0.092),1;USP43,missense_variant,p.V527M,ENST00000573955,,c.1579G>A,MODERATE,,tolerated(0.16),possibly_damaging(0.619),1;USP43,non_coding_transcript_exon_variant,,ENST00000570827,,n.3145G>A,MODIFIER,,,,1 A ENSG00000154914 ENST00000285199 Transcript missense_variant missense_variant 3100/4169 3004/3372 1002/1123 V/M Gtg/Atg USP43 HGNC HGNC:20072 protein_coding YES CCDS45610.1 ENSP00000285199 Q70EL4 UPI0000047AFB NM_153210.4 tolerated(0.31) benign(0.043) 15/15 MODERATE 1 SNV 1 GGTCCGTGTTT 90d37dff-736a-4cc5-b347-c3560391e123 c6902ad2-5f04-49b5-bfbe-35f0f1cb00fd 0ca48821-c238-4e18-a7aa-a650c3fb5e20 N muse;mutect2;somaticsniper;varscan2 MYOCD 93649 TGen GRCh38 chr17 12763803 12763803 + 3'Flank SNP G G T novel MMRF_2214_1_BM_CD138pos_T1_KHS5U_L08691 MMRF_2214_1_PB_Whole_C3_KHS5U_L08690 Somatic 420d2978-45d2-4aad-b72c-db68d37a380c ee2e8e8d-ba25-4c4c-9d0b-87383c2e5e00 ENST00000343344 66 34 32 104 MYOCD,3_prime_UTR_variant,,ENST00000425538,NM_001146312.2,c.*159G>T,MODIFIER,YES,,,1;MYOCD,3_prime_UTR_variant,,ENST00000443061,,c.*159G>T,MODIFIER,,,,1;MYOCD,downstream_gene_variant,,ENST00000343344,NM_153604.3,,MODIFIER,,,,1;RP11-1090M7.1,intron_variant,,ENST00000584772,,n.101-85C>A,MODIFIER,YES,,,-1 T ENSG00000141052 ENST00000343344 Transcript downstream_gene_variant downstream_gene_variant -/2817 -/2817 -/938 159 MYOCD HGNC HGNC:16067 protein_coding CCDS11163.1 ENSP00000341835 Q8IZQ8 UPI0000062264 NM_153604.3 MODIFIER SNV 1 TTTTAGAAATA 90d37dff-736a-4cc5-b347-c3560391e123 c6902ad2-5f04-49b5-bfbe-35f0f1cb00fd 0ca48821-c238-4e18-a7aa-a650c3fb5e20 N muse;mutect2;somaticsniper;varscan2 ZNF286B 729288 TGen GRCh38 chr17 18672235 18672235 + Intron SNP C C T novel MMRF_2214_1_BM_CD138pos_T1_KHS5U_L08691 MMRF_2214_1_PB_Whole_C3_KHS5U_L08690 Somatic 420d2978-45d2-4aad-b72c-db68d37a380c ee2e8e8d-ba25-4c4c-9d0b-87383c2e5e00 c.217+730G>A ENST00000545289 73 41 32 139 ZNF286B,intron_variant,,ENST00000545289,NM_001145045.1,c.217+730G>A,MODIFIER,YES,,,-1;ZNF286B,intron_variant,,ENST00000285274,,c.126+8506G>A,MODIFIER,,,,-1;ZNF286B,downstream_gene_variant,,ENST00000580145,,,MODIFIER,,,,-1;ZNF286B,downstream_gene_variant,,ENST00000583002,,,MODIFIER,,,,-1;RP11-815I9.4,upstream_gene_variant,,ENST00000578214,,,MODIFIER,YES,,,-1;FOXO3B,non_coding_transcript_exon_variant,,ENST00000395675,,n.639G>A,MODIFIER,YES,,,-1 T ENSG00000249459 ENST00000545289 Transcript intron_variant intron_variant -/5328 -/1569 -/522 ZNF286B HGNC HGNC:33241 protein_coding YES CCDS58523.1 ENSP00000461413 P0CG31 UPI000192A2F2 NM_001145045.1 4/4 MODIFIER 1 SNV 5 AAGAGCTCTTG 90d37dff-736a-4cc5-b347-c3560391e123 c6902ad2-5f04-49b5-bfbe-35f0f1cb00fd 0ca48821-c238-4e18-a7aa-a650c3fb5e20 N muse;mutect2;varscan2 MLX 6945 TGen GRCh38 chr17 42571555 42571555 + Silent SNP G G A novel MMRF_2214_1_BM_CD138pos_T1_KHS5U_L08691 MMRF_2214_1_PB_Whole_C3_KHS5U_L08690 Somatic 420d2978-45d2-4aad-b72c-db68d37a380c ee2e8e8d-ba25-4c4c-9d0b-87383c2e5e00 c.849G>A p.= p.R283R ENST00000246912 8/8 29 0 29 139 MLX,synonymous_variant,p.R283R,ENST00000246912,NM_170607.2,c.849G>A,LOW,YES,,,1;MLX,synonymous_variant,p.R229R,ENST00000435881,NM_198204.1,c.687G>A,LOW,,,,1;MLX,synonymous_variant,p.R199R,ENST00000346833,NM_198205.1,c.597G>A,LOW,,,,1;PSMC3IP,downstream_gene_variant,,ENST00000393795,NM_001256016.1&NM_016556.3&NM_001256015.1,,MODIFIER,YES,,,-1;PSMC3IP,downstream_gene_variant,,ENST00000253789,NM_013290.6,,MODIFIER,,,,-1;PSMC3IP,downstream_gene_variant,,ENST00000587209,NM_001256014.1,,MODIFIER,,,,-1;MLX,downstream_gene_variant,,ENST00000591024,,,MODIFIER,,,,1;PSMC3IP,downstream_gene_variant,,ENST00000590760,,,MODIFIER,,,,-1;MLX,non_coding_transcript_exon_variant,,ENST00000590050,,n.853G>A,MODIFIER,,,,1;MLX,non_coding_transcript_exon_variant,,ENST00000588320,,n.1163G>A,MODIFIER,,,,1;MLX,non_coding_transcript_exon_variant,,ENST00000585403,,n.894G>A,MODIFIER,,,,1;PSMC3IP,downstream_gene_variant,,ENST00000589505,,,MODIFIER,,,,-1;PSMC3IP,downstream_gene_variant,,ENST00000590931,,,MODIFIER,,,,-1;PSMC3IP,downstream_gene_variant,,ENST00000588544,,,MODIFIER,,,,-1;MLX,downstream_gene_variant,,ENST00000586393,,,MODIFIER,,,,1;PSMC3IP,downstream_gene_variant,,ENST00000586337,,,MODIFIER,,,,-1;MLX,downstream_gene_variant,,ENST00000590084,,,MODIFIER,,,,1;MLX,downstream_gene_variant,,ENST00000592717,,,MODIFIER,,,,1;MLX,downstream_gene_variant,,ENST00000591195,,,MODIFIER,,,,1 A ENSG00000108788 ENST00000246912 Transcript synonymous_variant synonymous_variant 902/2586 849/897 283/298 R cgG/cgA MLX HGNC HGNC:11645 protein_coding YES CCDS11430.1 ENSP00000246912 Q9UH92 UPI000012F237 NM_170607.2 8/8 LOW 1 SNV 1 CTGCGGGAGAT 90d37dff-736a-4cc5-b347-c3560391e123 c6902ad2-5f04-49b5-bfbe-35f0f1cb00fd 0ca48821-c238-4e18-a7aa-a650c3fb5e20 N muse;somaticsniper;varscan2 GPATCH8 23131 TGen GRCh38 chr17 44424387 44424387 + Missense_Mutation SNP C C G novel MMRF_2214_1_BM_CD138pos_T1_KHS5U_L08691 MMRF_2214_1_PB_Whole_C3_KHS5U_L08690 Somatic 420d2978-45d2-4aad-b72c-db68d37a380c ee2e8e8d-ba25-4c4c-9d0b-87383c2e5e00 c.454G>C p.Asp152His p.D152H ENST00000591680 6/8 62 33 29 133 GPATCH8,missense_variant,p.D152H,ENST00000591680,NM_001002909.2,c.454G>C,MODERATE,YES,deleterious(0),probably_damaging(1),-1;GPATCH8,missense_variant,p.D127H,ENST00000585614,,c.379G>C,MODERATE,,deleterious(0),probably_damaging(1),-1;GPATCH8,non_coding_transcript_exon_variant,,ENST00000586265,,n.474G>C,MODIFIER,,,,-1;GPATCH8,3_prime_UTR_variant,,ENST00000587228,,c.*340G>C,MODIFIER,,,,-1;GPATCH8,3_prime_UTR_variant,,ENST00000590041,,c.*454G>C,MODIFIER,,,,-1;GPATCH8,non_coding_transcript_exon_variant,,ENST00000335500,,n.1770G>C,MODIFIER,,,,-1 G ENSG00000186566 ENST00000591680 Transcript missense_variant missense_variant 485/4692 454/4509 152/1502 D/H Gat/Cat GPATCH8 HGNC HGNC:29066 protein_coding YES CCDS32666.1 ENSP00000467556 Q9UKJ3 UPI0000237985 NM_001002909.2 deleterious(0) probably_damaging(1) 6/8 Pfam_domain:PF12171;PROSITE_profiles:PS50157;Superfamily_domains:SSF57667 MODERATE 1 SNV 2 GTTATCAAATT 90d37dff-736a-4cc5-b347-c3560391e123 c6902ad2-5f04-49b5-bfbe-35f0f1cb00fd 0ca48821-c238-4e18-a7aa-a650c3fb5e20 N muse;somaticsniper;varscan2 GPATCH8 23131 TGen GRCh38 chr17 44424483 44424483 + Missense_Mutation SNP C C A novel MMRF_2214_1_BM_CD138pos_T1_KHS5U_L08691 MMRF_2214_1_PB_Whole_C3_KHS5U_L08690 Somatic 420d2978-45d2-4aad-b72c-db68d37a380c ee2e8e8d-ba25-4c4c-9d0b-87383c2e5e00 c.358G>T p.Asp120Tyr p.D120Y ENST00000591680 6/8 64 34 30 104 GPATCH8,missense_variant,p.D120Y,ENST00000591680,NM_001002909.2,c.358G>T,MODERATE,YES,deleterious(0),probably_damaging(0.987),-1;GPATCH8,missense_variant,p.D95Y,ENST00000585614,,c.283G>T,MODERATE,,deleterious(0),possibly_damaging(0.709),-1;GPATCH8,non_coding_transcript_exon_variant,,ENST00000586265,,n.378G>T,MODIFIER,,,,-1;GPATCH8,3_prime_UTR_variant,,ENST00000587228,,c.*244G>T,MODIFIER,,,,-1;GPATCH8,3_prime_UTR_variant,,ENST00000590041,,c.*358G>T,MODIFIER,,,,-1;GPATCH8,non_coding_transcript_exon_variant,,ENST00000335500,,n.1674G>T,MODIFIER,,,,-1 A ENSG00000186566 ENST00000591680 Transcript missense_variant missense_variant 389/4692 358/4509 120/1502 D/Y Gac/Tac GPATCH8 HGNC HGNC:29066 protein_coding YES CCDS32666.1 ENSP00000467556 Q9UKJ3 UPI0000237985 NM_001002909.2 deleterious(0) probably_damaging(0.987) 6/8 Coiled-coils_(Ncoils):ncoils MODERATE 1 SNV 2 TTTGTCAACAT 90d37dff-736a-4cc5-b347-c3560391e123 c6902ad2-5f04-49b5-bfbe-35f0f1cb00fd 0ca48821-c238-4e18-a7aa-a650c3fb5e20 N muse;somaticsniper;varscan2 ANKRD40 91369 TGen GRCh38 chr17 50699883 50699883 + Missense_Mutation SNP T T A rs199734034 byCluster MMRF_2214_1_BM_CD138pos_T1_KHS5U_L08691 MMRF_2214_1_PB_Whole_C3_KHS5U_L08690 Somatic 420d2978-45d2-4aad-b72c-db68d37a380c ee2e8e8d-ba25-4c4c-9d0b-87383c2e5e00 c.294A>T p.Glu98Asp p.E98D ENST00000285243 3/5 60 36 24 79 ANKRD40,missense_variant,p.E98D,ENST00000285243,NM_052855.3,c.294A>T,MODERATE,YES,tolerated(0.32),benign(0.004),-1;ANKRD40,missense_variant,p.E20D,ENST00000513072,,c.60A>T,MODERATE,,tolerated(0.62),benign(0.004),-1;RP11-294J22.6,downstream_gene_variant,,ENST00000574246,,,MODIFIER,YES,,,1;Y_RNA,downstream_gene_variant,,ENST00000364470,,,MODIFIER,YES,,,1;ANKRD40,downstream_gene_variant,,ENST00000507114,,,MODIFIER,,,,-1 A ENSG00000154945 ENST00000285243 Transcript missense_variant missense_variant 564/4184 294/1107 98/368 E/D gaA/gaT rs199734034 ANKRD40 HGNC HGNC:28233 protein_coding YES CCDS11572.1 ENSP00000285243 Q6AI12 A8IK34 UPI000006F76F NM_052855.3 tolerated(0.32) benign(0.004) 3/5 Low_complexity_(Seg):Seg;Superfamily_domains:SSF48403 MODERATE 1 SNV 1 8.466e-06 1.172e-05 0.0 0.0 0.0 0.0 1.991e-05 0.0 0.0 TCATCTTCTTC 90d37dff-736a-4cc5-b347-c3560391e123 c6902ad2-5f04-49b5-bfbe-35f0f1cb00fd 0ca48821-c238-4e18-a7aa-a650c3fb5e20 COSM981306 N muse;mutect2;somaticsniper;varscan2 PARD6G 84552 TGen GRCh38 chr18 80202900 80202900 + Silent SNP G G A novel MMRF_2214_1_BM_CD138pos_T1_KHS5U_L08691 MMRF_2214_1_PB_Whole_C3_KHS5U_L08690 Somatic 420d2978-45d2-4aad-b72c-db68d37a380c ee2e8e8d-ba25-4c4c-9d0b-87383c2e5e00 c.105C>T p.= p.D35D ENST00000353265 2/3 46 22 24 74 PARD6G,synonymous_variant,p.D35D,ENST00000353265,NM_032510.3,c.105C>T,LOW,YES,,,-1;PARD6G,synonymous_variant,p.D35D,ENST00000470488,,c.105C>T,LOW,,,,-1;PARD6G,upstream_gene_variant,,ENST00000463384,,,MODIFIER,,,,-1;AC139100.3,non_coding_transcript_exon_variant,,ENST00000588950,,n.1943G>A,MODIFIER,YES,,,1 A ENSG00000178184 ENST00000353265 Transcript synonymous_variant synonymous_variant 303/3868 105/1131 35/376 D gaC/gaT PARD6G HGNC HGNC:16076 protein_coding YES CCDS12022.1 ENSP00000343144 Q9BYG4 NM_032510.3 2/3 Pfam_domain:PF00564;SMART_domains:SM00666;Superfamily_domains:SSF54277 LOW 1 SNV 1 TGACGGTCCAG 90d37dff-736a-4cc5-b347-c3560391e123 c6902ad2-5f04-49b5-bfbe-35f0f1cb00fd 0ca48821-c238-4e18-a7aa-a650c3fb5e20 N muse;mutect2;somaticsniper;varscan2 PTPRS 5802 TGen GRCh38 chr19 5229636 5229636 + Missense_Mutation SNP G G T novel MMRF_2214_1_BM_CD138pos_T1_KHS5U_L08691 MMRF_2214_1_PB_Whole_C3_KHS5U_L08690 Somatic 420d2978-45d2-4aad-b72c-db68d37a380c ee2e8e8d-ba25-4c4c-9d0b-87383c2e5e00 c.2204C>A p.Thr735Lys p.T735K ENST00000357368 15/38 20 9 11 26 PTPRS,missense_variant,p.T735K,ENST00000357368,NM_002850.3,c.2204C>A,MODERATE,YES,deleterious(0),benign(0.206),-1;PTPRS,missense_variant,p.T722K,ENST00000348075,NM_130854.2,c.2165C>A,MODERATE,,deleterious(0),benign(0.006),-1;PTPRS,missense_variant,p.T735K,ENST00000587303,,c.2204C>A,MODERATE,,deleterious(0),benign(0.206),-1;PTPRS,missense_variant,p.T722K,ENST00000588012,,c.2165C>A,MODERATE,,deleterious(0),benign(0.006),-1;PTPRS,intron_variant,,ENST00000353284,NM_130855.2,c.1823-7416C>A,MODIFIER,,,,-1;PTPRS,intron_variant,,ENST00000592099,NM_130853.2,c.1811-7416C>A,MODIFIER,,,,-1;PTPRS,intron_variant,,ENST00000262963,,c.1811-7416C>A,MODIFIER,,,,-1;PTPRS,intron_variant,,ENST00000588552,,n.2045-7416C>A,MODIFIER,,,,-1 T ENSG00000105426 ENST00000357368 Transcript missense_variant missense_variant 2438/7347 2204/5847 735/1948 T/K aCg/aAg PTPRS HGNC HGNC:9681 protein_coding YES CCDS45930.1 ENSP00000349932 Q13332 UPI000059D63E NM_002850.3 deleterious(0) benign(0.206) 15/38 Pfam_domain:PF00041;PROSITE_profiles:PS50853;SMART_domains:SM00060;Superfamily_domains:SSF49265 MODERATE 1 SNV 5 TGGCCGTGGCG 90d37dff-736a-4cc5-b347-c3560391e123 c6902ad2-5f04-49b5-bfbe-35f0f1cb00fd 0ca48821-c238-4e18-a7aa-a650c3fb5e20 N muse;mutect2;somaticsniper;varscan2 PTPRS 5802 TGen GRCh38 chr19 5244300 5244300 + Missense_Mutation SNP C C T novel MMRF_2214_1_BM_CD138pos_T1_KHS5U_L08691 MMRF_2214_1_PB_Whole_C3_KHS5U_L08690 Somatic 420d2978-45d2-4aad-b72c-db68d37a380c ee2e8e8d-ba25-4c4c-9d0b-87383c2e5e00 c.1171G>A p.Gly391Ser p.G391S ENST00000357368 11/38 90 49 40 91 PTPRS,missense_variant,p.G391S,ENST00000357368,NM_002850.3,c.1171G>A,MODERATE,YES,tolerated(0.07),probably_damaging(0.992),-1;PTPRS,missense_variant,p.G378S,ENST00000348075,NM_130854.2,c.1132G>A,MODERATE,,tolerated(0.07),probably_damaging(0.999),-1;PTPRS,missense_variant,p.G391S,ENST00000587303,,c.1171G>A,MODERATE,,tolerated(0.07),probably_damaging(0.992),-1;PTPRS,missense_variant,p.G382S,ENST00000353284,NM_130855.2,c.1144G>A,MODERATE,,tolerated(0.1),benign(0.181),-1;PTPRS,missense_variant,p.G378S,ENST00000588012,,c.1132G>A,MODERATE,,tolerated(0.07),probably_damaging(0.999),-1;PTPRS,missense_variant,p.G378S,ENST00000592099,NM_130853.2,c.1132G>A,MODERATE,,tolerated(0.1),benign(0.095),-1;PTPRS,missense_variant,p.G378S,ENST00000262963,,c.1132G>A,MODERATE,,tolerated(0.1),benign(0.138),-1;PTPRS,non_coding_transcript_exon_variant,,ENST00000588552,,n.1366G>A,MODIFIER,,,,-1 T ENSG00000105426 ENST00000357368 Transcript missense_variant missense_variant 1405/7347 1171/5847 391/1948 G/S Ggc/Agc PTPRS HGNC HGNC:9681 protein_coding YES CCDS45930.1 ENSP00000349932 Q13332 UPI000059D63E NM_002850.3 tolerated(0.07) probably_damaging(0.992) 11/38 Pfam_domain:PF00041;PROSITE_profiles:PS50853;SMART_domains:SM00060;Superfamily_domains:SSF49265 MODERATE 1 SNV 5 CAGGCCGCCGA 90d37dff-736a-4cc5-b347-c3560391e123 c6902ad2-5f04-49b5-bfbe-35f0f1cb00fd 0ca48821-c238-4e18-a7aa-a650c3fb5e20 N muse;mutect2;somaticsniper;varscan2 CYP4F3 4051 TGen GRCh38 chr19 15644007 15644007 + Intron SNP G G A rs765496128 byFrequency MMRF_2214_1_BM_CD138pos_T1_KHS5U_L08691 MMRF_2214_1_PB_Whole_C3_KHS5U_L08690 Somatic 420d2978-45d2-4aad-b72c-db68d37a380c ee2e8e8d-ba25-4c4c-9d0b-87383c2e5e00 c.199-1712G>A ENST00000221307 258 174 84 249 CYP4F3,missense_variant,p.R100H,ENST00000591058,NM_001199208.1,c.299G>A,MODERATE,,tolerated(0.55),benign(0.005),1;CYP4F3,missense_variant,p.R100H,ENST00000586182,NM_001199209.1,c.299G>A,MODERATE,,tolerated(0.55),benign(0.005),1;CYP4F3,missense_variant,p.R100H,ENST00000585846,,c.299G>A,MODERATE,,tolerated(0.55),benign(0.005),1;CYP4F3,intron_variant,,ENST00000221307,NM_000896.2,c.199-1712G>A,MODIFIER,YES,,,1;CYP4F3,intron_variant,,ENST00000620621,,c.344-3045G>A,MODIFIER,,,,1;CYP4F3,non_coding_transcript_exon_variant,,ENST00000592279,,n.349G>A,MODIFIER,,,,1;CYP4F3,intron_variant,,ENST00000587360,,c.198+2394G>A,MODIFIER,,,,1;CYP4F3,upstream_gene_variant,,ENST00000609670,,,MODIFIER,,,,1 A ENSG00000186529 ENST00000221307 Transcript intron_variant intron_variant -/5050 -/1563 -/520 rs765496128 CYP4F3 HGNC HGNC:2646 protein_coding YES CCDS12332.1 ENSP00000221307 Q08477 A0A024R7J8 UPI0000052BE3 NM_000896.2 2/12 MODIFIER 1 SNV 1 3.295e-05 3.453e-05 0.0003083 0.0 0.0001188 0.0 0.0 0.0 0.0 3.7670458826188506e-05 3.9357682619647354e-05 0.00035444234404536864 0.0 0.00012980269989615784 0.0 0.0 0.0 0.0 CATCCGTTTTT 90d37dff-736a-4cc5-b347-c3560391e123 c6902ad2-5f04-49b5-bfbe-35f0f1cb00fd 0ca48821-c238-4e18-a7aa-a650c3fb5e20 N muse;mutect2;somaticsniper;varscan2 CATSPERG 57828 TGen GRCh38 chr19 38367782 38367782 + Splice_Region SNP C C A novel MMRF_2214_1_BM_CD138pos_T1_KHS5U_L08691 MMRF_2214_1_PB_Whole_C3_KHS5U_L08690 Somatic 420d2978-45d2-4aad-b72c-db68d37a380c ee2e8e8d-ba25-4c4c-9d0b-87383c2e5e00 c.2930+6C>A ENST00000409235 79 52 27 47 CATSPERG,splice_region_variant,,ENST00000409235,NM_021185.4,c.2930+6C>A,LOW,YES,,,1;CATSPERG,splice_region_variant,,ENST00000410018,,c.2810+6C>A,LOW,,,,1;CATSPERG,splice_region_variant,,ENST00000471517,,c.*2539+6C>A,LOW,,,,1;CATSPERG,splice_region_variant,,ENST00000312265,,c.*1849+6C>A,LOW,,,,1;CATSPERG,splice_region_variant,,ENST00000412458,,c.*1849+6C>A,LOW,,,,1;CATSPERG,non_coding_transcript_exon_variant,,ENST00000492088,,n.2803C>A,MODIFIER,,,,1 A ENSG00000099338 ENST00000409235 Transcript splice_region_variant splice_region_variant;intron_variant -/3746 -/3480 -/1159 CATSPERG HGNC HGNC:25243 protein_coding YES CCDS12514.2 ENSP00000386962 Q6ZRH7 UPI000022A813 NM_021185.4 25/28 LOW 1 SNV 5 GTAATCCCCGT 90d37dff-736a-4cc5-b347-c3560391e123 c6902ad2-5f04-49b5-bfbe-35f0f1cb00fd 0ca48821-c238-4e18-a7aa-a650c3fb5e20 N muse;mutect2;somaticsniper;varscan2 SPTBN4 57731 TGen GRCh38 chr19 40557239 40557277 + In_Frame_Del DEL CTTCATAAGTTCTTCAGTGACGCCCGAGAGCTTCAGGGA CTTCATAAGTTCTTCAGTGACGCCCGAGAGCTTCAGGGA - novel MMRF_2214_1_BM_CD138pos_T1_KHS5U_L08691 MMRF_2214_1_PB_Whole_C3_KHS5U_L08690 Somatic 420d2978-45d2-4aad-b72c-db68d37a380c ee2e8e8d-ba25-4c4c-9d0b-87383c2e5e00 c.5507_5545delTTCATAAGTTCTTCAGTGACGCCCGAGAGCTTCAGGGAC p.Leu1836_Gly1848del p.L1836_G1848del ENST00000352632 26/36 112 98 14 140 SPTBN4,inframe_deletion,p.L1836_G1848del,ENST00000338932,,c.5507_5545delTTCATAAGTTCTTCAGTGACGCCCGAGAGCTTCAGGGAC,MODERATE,,,,1;SPTBN4,inframe_deletion,p.L1836_G1848del,ENST00000352632,,c.5507_5545delTTCATAAGTTCTTCAGTGACGCCCGAGAGCTTCAGGGAC,MODERATE,YES,,,1;SPTBN4,inframe_deletion,p.L1836_G1848del,ENST00000392025,,c.5507_5545delTTCATAAGTTCTTCAGTGACGCCCGAGAGCTTCAGGGAC,MODERATE,,,,1;SPTBN4,inframe_deletion,p.L1836_G1848del,ENST00000598249,NM_020971.2,c.5507_5545delTTCATAAGTTCTTCAGTGACGCCCGAGAGCTTCAGGGAC,MODERATE,,,,1;SPTBN4,inframe_deletion,p.L1836_G1848del,ENST00000595535,,c.5507_5545delTTCATAAGTTCTTCAGTGACGCCCGAGAGCTTCAGGGAC,MODERATE,,,,1;SPTBN4,inframe_deletion,p.L512_G524del,ENST00000392023,NM_025213.2,c.1535_1573delTTCATAAGTTCTTCAGTGACGCCCGAGAGCTTCAGGGAC,MODERATE,,,,1;SPTBN4,3_prime_UTR_variant,,ENST00000597389,,c.*1663_*1701delTTCATAAGTTCTTCAGTGACGCCCGAGAGCTTCAGGGAC,MODIFIER,,,,1;SPTBN4,downstream_gene_variant,,ENST00000596900,,,MODIFIER,,,,1 - ENSG00000160460 ENST00000352632 Transcript inframe_deletion inframe_deletion 5592-5630/8676 5506-5544/7695 1836-1848/2564 LHKFFSDARELQG/- CTTCATAAGTTCTTCAGTGACGCCCGAGAGCTTCAGGGA/- SPTBN4 HGNC HGNC:14896 protein_coding YES CCDS12559.1 ENSP00000263373 Q9H254 UPI0000135DBB 26/36 Pfam_domain:PF00435;SMART_domains:SM00150;PIRSF_domain:PIRSF002297 MODERATE 1 deletion 5 1 CGGGAGCTTCATAAGTTCTTCAGTGACGCCCGAGAGCTTCAGGGACAGAT 90d37dff-736a-4cc5-b347-c3560391e123 c6902ad2-5f04-49b5-bfbe-35f0f1cb00fd 0ca48821-c238-4e18-a7aa-a650c3fb5e20 N mutect2;pindel SRRM5 100170229 TGen GRCh38 chr19 43596678 43596678 + 5'UTR SNP G G A novel MMRF_2214_1_BM_CD138pos_T1_KHS5U_L08691 MMRF_2214_1_PB_Whole_C3_KHS5U_L08690 Somatic 420d2978-45d2-4aad-b72c-db68d37a380c ee2e8e8d-ba25-4c4c-9d0b-87383c2e5e00 c.-261G>A ENST00000607544 1/3 128 86 42 135 SRRM5,5_prime_UTR_variant,,ENST00000607544,,c.-261G>A,MODIFIER,YES,,,1;ZNF576,5_prime_UTR_variant,,ENST00000336564,NM_001145347.1,c.-81G>A,MODIFIER,YES,,,1;ZNF576,5_prime_UTR_variant,,ENST00000525771,,c.-431G>A,MODIFIER,,,,1;ZNF576,5_prime_UTR_variant,,ENST00000529930,,c.-78G>A,MODIFIER,,,,1;ZNF576,intron_variant,,ENST00000391965,NM_024327.2,c.-16+93G>A,MODIFIER,,,,1;ZNF576,intron_variant,,ENST00000533118,,c.-13+93G>A,MODIFIER,,,,1;ZNF576,intron_variant,,ENST00000528387,,c.-16+40G>A,MODIFIER,,,,1;IRGQ,upstream_gene_variant,,ENST00000422989,NM_001007561.2,,MODIFIER,YES,,,-1;IRGQ,upstream_gene_variant,,ENST00000602269,,,MODIFIER,,,,-1;IRGQ,upstream_gene_variant,,ENST00000598324,,,MODIFIER,,,,-1;L34079.2,upstream_gene_variant,,ENST00000594374,,,MODIFIER,YES,,,-1;IRGQ,upstream_gene_variant,,ENST00000601520,,,MODIFIER,,,,-1;ZNF576,non_coding_transcript_exon_variant,,ENST00000595041,,n.64G>A,MODIFIER,,,,1 A ENSG00000226763 ENST00000607544 Transcript 5_prime_UTR_variant 5_prime_UTR_variant 62/2698 -/2148 -/715 SRRM5 HGNC HGNC:37248 protein_coding YES CCDS46095.1 ENSP00000476253 B3KS81 UPI000059D73E 1/3 MODIFIER SNV 2 GCGGGGGCTCT 90d37dff-736a-4cc5-b347-c3560391e123 c6902ad2-5f04-49b5-bfbe-35f0f1cb00fd 0ca48821-c238-4e18-a7aa-a650c3fb5e20 N muse;mutect2;somaticsniper;varscan2 ZNF616 90317 TGen GRCh38 chr19 52116628 52116628 + Missense_Mutation SNP T T C novel MMRF_2214_1_BM_CD138pos_T1_KHS5U_L08691 MMRF_2214_1_PB_Whole_C3_KHS5U_L08690 Somatic 420d2978-45d2-4aad-b72c-db68d37a380c ee2e8e8d-ba25-4c4c-9d0b-87383c2e5e00 c.536A>G p.His179Arg p.H179R ENST00000600228 4/4 94 60 34 108 ZNF616,missense_variant,p.H179R,ENST00000600228,NM_178523.3,c.536A>G,MODERATE,YES,tolerated(0.38),benign(0.288),-1;ZNF616,3_prime_UTR_variant,,ENST00000330123,,c.*409A>G,MODIFIER,,,,-1;ZNF616,downstream_gene_variant,,ENST00000596290,,,MODIFIER,,,,-1 C ENSG00000204611 ENST00000600228 Transcript missense_variant missense_variant 798/4335 536/2346 179/781 H/R cAc/cGc ZNF616 HGNC HGNC:28062 protein_coding YES CCDS33090.1 ENSP00000471000 Q08AN1 UPI0000140D49 NM_178523.3 tolerated(0.38) benign(0.288) 4/4 MODERATE 1 SNV 1 TAATGTGTGGA 90d37dff-736a-4cc5-b347-c3560391e123 c6902ad2-5f04-49b5-bfbe-35f0f1cb00fd 0ca48821-c238-4e18-a7aa-a650c3fb5e20 N muse;mutect2;somaticsniper;varscan2 NLRP12 91662 TGen GRCh38 chr19 53810879 53810879 + Silent SNP C C T rs148038630 byCluster MMRF_2214_1_BM_CD138pos_T1_KHS5U_L08691 MMRF_2214_1_PB_Whole_C3_KHS5U_L08690 Somatic 420d2978-45d2-4aad-b72c-db68d37a380c ee2e8e8d-ba25-4c4c-9d0b-87383c2e5e00 c.780G>A p.= p.T260T ENST00000324134 3/10 224 153 70 279 NLRP12,synonymous_variant,p.T260T,ENST00000324134,NM_144687.3,c.780G>A,LOW,,,,-1;NLRP12,synonymous_variant,p.T260T,ENST00000391773,NM_001277126.1,c.780G>A,LOW,YES,,,-1;NLRP12,synonymous_variant,p.T260T,ENST00000345770,,c.780G>A,LOW,,,,-1;NLRP12,synonymous_variant,p.T260T,ENST00000391775,NM_001277129.1,c.780G>A,LOW,,,,-1;NLRP12,synonymous_variant,p.T260T,ENST00000391772,,c.780G>A,LOW,,,,-1;NLRP12,upstream_gene_variant,,ENST00000492915,,,MODIFIER,,,,-1 T ENSG00000142405 ENST00000324134 Transcript synonymous_variant synonymous_variant 949/3801 780/3186 260/1061 T acG/acA rs148038630 NLRP12 HGNC HGNC:22938 protein_coding CCDS12864.1 ENSP00000319377 P59046 NM_144687.3 3/10 Pfam_domain:PF05729;PROSITE_profiles:PS50837;Superfamily_domains:SSF52540 0.0 0.0001 LOW SNV 1 8.236e-06 8.256e-06 0.0 0.0 0.0 0.0 1.502e-05 0.0 0.0 9.415309292910272e-06 9.424360085950164e-06 0.0 0.0 0.0 0.0 1.84168845998011e-05 0.0 0.0 CATTCCGTGGC 90d37dff-736a-4cc5-b347-c3560391e123 c6902ad2-5f04-49b5-bfbe-35f0f1cb00fd 0ca48821-c238-4e18-a7aa-a650c3fb5e20 COSM4402215;COSM4402216 N muse;mutect2;somaticsniper;varscan2 FAM83D 81610 TGen GRCh38 chr20 38951858 38951858 + Missense_Mutation SNP T T G novel MMRF_2214_1_BM_CD138pos_T1_KHS5U_L08691 MMRF_2214_1_PB_Whole_C3_KHS5U_L08690 Somatic 420d2978-45d2-4aad-b72c-db68d37a380c ee2e8e8d-ba25-4c4c-9d0b-87383c2e5e00 c.1096T>G p.Ser366Ala p.S366A ENST00000619850 4/4 106 2 103 198 FAM83D,missense_variant,p.S396A,ENST00000619304,,c.1186T>G,MODERATE,YES,deleterious(0.05),benign(0.081),1;FAM83D,missense_variant,p.S396A,ENST00000217429,NM_030919.2,c.1186T>G,MODERATE,,deleterious(0.05),benign(0.081),1;FAM83D,missense_variant,p.S366A,ENST00000619850,,c.1096T>G,MODERATE,,deleterious(0.04),benign(0.011),1;RP4-616B8.5,upstream_gene_variant,,ENST00000620080,,,MODIFIER,YES,,,1 G ENSG00000101447 ENST00000619850 Transcript missense_variant missense_variant 1113/2361 1096/1758 366/585 S/A Tct/Gct FAM83D HGNC HGNC:16122 protein_coding ENSP00000481465 Q9H4H8 UPI0000128607 deleterious(0.04) benign(0.011) 4/4 MODERATE SNV 1 AGTCCTCTACT 90d37dff-736a-4cc5-b347-c3560391e123 c6902ad2-5f04-49b5-bfbe-35f0f1cb00fd 0ca48821-c238-4e18-a7aa-a650c3fb5e20 N muse;mutect2;somaticsniper;varscan2 KCNS1 3787 TGen GRCh38 chr20 45092939 45092939 + 3'UTR SNP A A G novel MMRF_2214_1_BM_CD138pos_T1_KHS5U_L08691 MMRF_2214_1_PB_Whole_C3_KHS5U_L08690 Somatic 420d2978-45d2-4aad-b72c-db68d37a380c ee2e8e8d-ba25-4c4c-9d0b-87383c2e5e00 c.*1931T>C ENST00000306117 5/5 30 0 30 48 KCNS1,3_prime_UTR_variant,,ENST00000306117,NM_002251.3,c.*1931T>C,MODIFIER,YES,,,-1;KCNS1,downstream_gene_variant,,ENST00000537075,,,MODIFIER,,,,-1 G ENSG00000124134 ENST00000306117 Transcript 3_prime_UTR_variant 3_prime_UTR_variant 3909/4538 -/1581 -/526 KCNS1 HGNC HGNC:6300 protein_coding YES CCDS13342.1 ENSP00000307694 Q96KK3 A2RUL8 UPI000012DCD1 NM_002251.3 5/5 MODIFIER 1 SNV 1 GCATTAGAGTC 90d37dff-736a-4cc5-b347-c3560391e123 c6902ad2-5f04-49b5-bfbe-35f0f1cb00fd 0ca48821-c238-4e18-a7aa-a650c3fb5e20 N muse;mutect2;somaticsniper;varscan2 MRGBP 55257 TGen GRCh38 chr20 62800205 62800205 + 3'UTR DEL A A - novel MMRF_2214_1_BM_CD138pos_T1_KHS5U_L08691 MMRF_2214_1_PB_Whole_C3_KHS5U_L08690 Somatic 420d2978-45d2-4aad-b72c-db68d37a380c ee2e8e8d-ba25-4c4c-9d0b-87383c2e5e00 c.*562delA ENST00000370487 5/5 54 46 7 81 MRGBP,3_prime_UTR_variant,,ENST00000370487,NM_018270.4,c.*562delA,MODIFIER,YES,,,1;OGFR,upstream_gene_variant,,ENST00000290291,NM_007346.2,,MODIFIER,YES,,,1;OGFR,upstream_gene_variant,,ENST00000621591,,,MODIFIER,,,,1;OGFR-AS1,downstream_gene_variant,,ENST00000431361,,,MODIFIER,YES,,,-1 - ENSG00000101189 ENST00000370487 Transcript 3_prime_UTR_variant 3_prime_UTR_variant 1248/2781 -/615 -/204 MRGBP HGNC HGNC:15866 protein_coding YES CCDS13503.1 ENSP00000359518 Q9NV56 UPI0000049FC0 NM_018270.4 5/5 MODIFIER 1 deletion 1 ACCCCCACCCAC 90d37dff-736a-4cc5-b347-c3560391e123 c6902ad2-5f04-49b5-bfbe-35f0f1cb00fd 0ca48821-c238-4e18-a7aa-a650c3fb5e20 N pindel;varscan2 COL20A1 57642 TGen GRCh38 chr20 63309378 63309378 + Missense_Mutation SNP C C T rs749535969 byFrequency MMRF_2214_1_BM_CD138pos_T1_KHS5U_L08691 MMRF_2214_1_PB_Whole_C3_KHS5U_L08690 Somatic 420d2978-45d2-4aad-b72c-db68d37a380c ee2e8e8d-ba25-4c4c-9d0b-87383c2e5e00 c.986C>T p.Pro329Leu p.P329L ENST00000358894 9/36 96 39 57 101 COL20A1,missense_variant,p.P336L,ENST00000422202,,c.1007C>T,MODERATE,,tolerated(0.17),benign(0.005),1;COL20A1,missense_variant,p.P329L,ENST00000358894,NM_020882.2,c.986C>T,MODERATE,YES,tolerated(0.17),benign(0.009),1;COL20A1,non_coding_transcript_exon_variant,,ENST00000479501,,n.1048C>T,MODIFIER,,,,1 T ENSG00000101203 ENST00000358894 Transcript missense_variant missense_variant 1086/4172 986/3855 329/1284 P/L cCg/cTg rs749535969 COL20A1 HGNC HGNC:14670 protein_coding YES CCDS46628.1 ENSP00000351767 Q9P218 UPI000051910D NM_020882.2 tolerated(0.17) benign(0.009) 9/36 Pfam_domain:PF00092;PROSITE_profiles:PS50234;SMART_domains:SM00327;Superfamily_domains:SSF53300 MODERATE 1 SNV 1 GTCCCCGCCGA 90d37dff-736a-4cc5-b347-c3560391e123 c6902ad2-5f04-49b5-bfbe-35f0f1cb00fd 0ca48821-c238-4e18-a7aa-a650c3fb5e20 COSM4294149;COSM4294150;COSM4294151 N muse;mutect2;somaticsniper;varscan2 MX2 4600 TGen GRCh38 chr21 41376901 41376901 + 5'UTR SNP C C A novel MMRF_2214_1_BM_CD138pos_T1_KHS5U_L08691 MMRF_2214_1_PB_Whole_C3_KHS5U_L08690 Somatic 420d2978-45d2-4aad-b72c-db68d37a380c ee2e8e8d-ba25-4c4c-9d0b-87383c2e5e00 c.-6C>A ENST00000330714 2/14 162 90 72 241 MX2,5_prime_UTR_variant,,ENST00000330714,NM_002463.1,c.-6C>A,MODIFIER,YES,,,1;MX2,5_prime_UTR_variant,,ENST00000416447,,c.-6C>A,MODIFIER,,,,1;MX2,5_prime_UTR_variant,,ENST00000435611,,c.-6C>A,MODIFIER,,,,1;MX2,5_prime_UTR_variant,,ENST00000418103,,c.-6C>A,MODIFIER,,,,1;MX2,5_prime_UTR_variant,,ENST00000436410,,c.-6C>A,MODIFIER,,,,1 A ENSG00000183486 ENST00000330714 Transcript 5_prime_UTR_variant 5_prime_UTR_variant 179/3042 -/2148 -/715 MX2 HGNC HGNC:7533 protein_coding YES CCDS13672.1 ENSP00000333657 P20592 UPI0000001C2D NM_002463.1 2/14 MODIFIER 1 SNV 1 GGAGACAGCAC 90d37dff-736a-4cc5-b347-c3560391e123 c6902ad2-5f04-49b5-bfbe-35f0f1cb00fd 0ca48821-c238-4e18-a7aa-a650c3fb5e20 N muse;mutect2;somaticsniper;varscan2 HORMAD2 150280 TGen GRCh38 chr22 30093971 30093971 + Missense_Mutation SNP T T G novel MMRF_2214_1_BM_CD138pos_T1_KHS5U_L08691 MMRF_2214_1_PB_Whole_C3_KHS5U_L08690 Somatic 420d2978-45d2-4aad-b72c-db68d37a380c ee2e8e8d-ba25-4c4c-9d0b-87383c2e5e00 c.19T>G p.Ser7Ala p.S7A ENST00000336726 2/11 254 127 127 473 HORMAD2,missense_variant,p.S7A,ENST00000336726,NM_152510.2,c.19T>G,MODERATE,YES,tolerated(0.6),benign(0.002),1;HORMAD2,missense_variant,p.S7A,ENST00000403975,,c.19T>G,MODERATE,,tolerated(0.6),benign(0.002),1;HORMAD2,missense_variant,p.S7A,ENST00000450612,,c.19T>G,MODERATE,,tolerated(0.85),benign(0.003),1;HORMAD2,non_coding_transcript_exon_variant,,ENST00000491605,,n.14T>G,MODIFIER,,,,1 G ENSG00000176635 ENST00000336726 Transcript missense_variant missense_variant 374/2187 19/924 7/307 S/A Tct/Gct HORMAD2 HGNC HGNC:28383 protein_coding YES CCDS46683.1 ENSP00000336984 Q8N7B1 UPI000006EB31 NM_152510.2 tolerated(0.6) benign(0.002) 2/11 MODERATE 1 SNV 1 AGCTTTCTCAC 90d37dff-736a-4cc5-b347-c3560391e123 c6902ad2-5f04-49b5-bfbe-35f0f1cb00fd 0ca48821-c238-4e18-a7aa-a650c3fb5e20 N muse;mutect2;somaticsniper;varscan2 LARGE 9215 TGen GRCh38 chr22 33274510 33274510 + Missense_Mutation SNP G G C novel MMRF_2214_1_BM_CD138pos_T1_KHS5U_L08691 MMRF_2214_1_PB_Whole_C3_KHS5U_L08690 Somatic 420d2978-45d2-4aad-b72c-db68d37a380c ee2e8e8d-ba25-4c4c-9d0b-87383c2e5e00 c.2188C>G p.Leu730Val p.L730V ENST00000354992 16/16 105 61 44 166 LARGE,missense_variant,p.L730V,ENST00000354992,NM_004737.4,c.2188C>G,MODERATE,YES,deleterious(0),probably_damaging(0.999),-1;LARGE,missense_variant,p.L730V,ENST00000397394,NM_133642.3,c.2188C>G,MODERATE,,deleterious(0),probably_damaging(0.999),-1;LARGE,missense_variant,p.L678V,ENST00000402320,,c.2032C>G,MODERATE,,deleterious(0),probably_damaging(0.998),-1;LARGE,intron_variant,,ENST00000608642,,c.761+29719C>G,MODIFIER,,,,-1;LARGE,intron_variant,,ENST00000610186,,c.908+8692C>G,MODIFIER,,,,-1;LARGE,intron_variant,,ENST00000609799,,c.482+41575C>G,MODIFIER,,,,-1 C ENSG00000133424 ENST00000354992 Transcript missense_variant missense_variant 2760/4409 2188/2271 730/756 L/V Ctc/Gtc LARGE HGNC HGNC:6511 protein_coding YES CCDS13912.1 ENSP00000347088 O95461 X5DR28 UPI000012E200 NM_004737.4 deleterious(0) probably_damaging(0.999) 16/16 MODERATE 1 SNV 1 CTTGAGGGTTT 90d37dff-736a-4cc5-b347-c3560391e123 c6902ad2-5f04-49b5-bfbe-35f0f1cb00fd 0ca48821-c238-4e18-a7aa-a650c3fb5e20 N muse;mutect2;somaticsniper;varscan2 TRIOBP 11078 TGen GRCh38 chr22 37726339 37726339 + Silent SNP C C T rs371220515 byCluster MMRF_2214_1_BM_CD138pos_T1_KHS5U_L08691 MMRF_2214_1_PB_Whole_C3_KHS5U_L08690 Somatic 420d2978-45d2-4aad-b72c-db68d37a380c ee2e8e8d-ba25-4c4c-9d0b-87383c2e5e00 c.3783C>T p.= p.T1261T ENST00000406386 7/24 135 62 73 150 TRIOBP,synonymous_variant,p.T1261T,ENST00000406386,NM_001039141.2,c.3783C>T,LOW,YES,,,1;RP1-37E16.12,3_prime_UTR_variant,,ENST00000455236,,c.*4119C>T,MODIFIER,YES,,,1;TRIOBP,3_prime_UTR_variant,,ENST00000344404,,c.*3266C>T,MODIFIER,,,,1;TRIOBP,non_coding_transcript_exon_variant,,ENST00000492485,,n.3717C>T,MODIFIER,,,,1 T ENSG00000100106 ENST00000406386 Transcript synonymous_variant synonymous_variant 4038/10129 3783/7098 1261/2365 T acC/acT rs371220515 TRIOBP HGNC HGNC:17009 protein_coding YES CCDS43015.1 ENSP00000384312 Q9H2D6 UPI000067CB88 NM_001039141.2 7/24 0.0003 0.0 LOW 1 SNV 5 8.295e-06 9.012e-06 0.0001192 0.0 0.0 0.0 0.0 0.0 0.0 9.482807669694844e-06 1.0171077523952887e-05 0.00013812154696132598 0.0 0.0 0.0 0.0 0.0 0.0 GAGACCAGGCA 90d37dff-736a-4cc5-b347-c3560391e123 c6902ad2-5f04-49b5-bfbe-35f0f1cb00fd 0ca48821-c238-4e18-a7aa-a650c3fb5e20 N muse;mutect2;somaticsniper;varscan2 PHF21B 112885 TGen GRCh38 chr22 44882473 44882473 + 3'UTR SNP G G A novel MMRF_2214_1_BM_CD138pos_T1_KHS5U_L08691 MMRF_2214_1_PB_Whole_C3_KHS5U_L08690 Somatic 420d2978-45d2-4aad-b72c-db68d37a380c ee2e8e8d-ba25-4c4c-9d0b-87383c2e5e00 c.*613C>T ENST00000313237 13/13 39 16 23 63 PHF21B,3_prime_UTR_variant,,ENST00000313237,NM_138415.4,c.*613C>T,MODIFIER,YES,,,-1;PHF21B,3_prime_UTR_variant,,ENST00000403565,NM_001284296.1,c.*613C>T,MODIFIER,,,,-1;PHF21B,3_prime_UTR_variant,,ENST00000396103,NM_001242450.1,c.*613C>T,MODIFIER,,,,-1;PHF21B,3_prime_UTR_variant,,ENST00000629843,NM_001135862.2,c.*613C>T,MODIFIER,,,,-1 A ENSG00000056487 ENST00000313237 Transcript 3_prime_UTR_variant 3_prime_UTR_variant 2360/3671 -/1596 -/531 PHF21B HGNC HGNC:25161 protein_coding YES CCDS14061.1 ENSP00000324403 Q96EK2 NM_138415.4 13/13 MODIFIER 1 SNV 1 AATTCGTAACC 90d37dff-736a-4cc5-b347-c3560391e123 c6902ad2-5f04-49b5-bfbe-35f0f1cb00fd 0ca48821-c238-4e18-a7aa-a650c3fb5e20 N muse;mutect2;somaticsniper;varscan2 TUBGCP6 85378 TGen GRCh38 chr22 50244370 50244370 + Silent SNP C C G novel MMRF_2214_1_BM_CD138pos_T1_KHS5U_L08691 MMRF_2214_1_PB_Whole_C3_KHS5U_L08690 Somatic 420d2978-45d2-4aad-b72c-db68d37a380c ee2e8e8d-ba25-4c4c-9d0b-87383c2e5e00 c.90G>C p.= p.R30R ENST00000248846 1/25 92 53 39 186 TUBGCP6,synonymous_variant,p.R30R,ENST00000439308,,c.90G>C,LOW,,,,-1;TUBGCP6,synonymous_variant,p.R30R,ENST00000248846,NM_020461.3,c.90G>C,LOW,YES,,,-1;HDAC10,downstream_gene_variant,,ENST00000216271,NM_032019.5,,MODIFIER,YES,,,-1;HDAC10,downstream_gene_variant,,ENST00000626012,,,MODIFIER,,,,-1;HDAC10,downstream_gene_variant,,ENST00000448072,,,MODIFIER,,,,-1;HDAC10,downstream_gene_variant,,ENST00000349505,NM_001159286.1,,MODIFIER,,,,-1;TUBGCP6,upstream_gene_variant,,ENST00000434349,,,MODIFIER,,,,-1;MAPK12,downstream_gene_variant,,ENST00000497036,,,MODIFIER,,,,-1;HDAC10,downstream_gene_variant,,ENST00000498366,,,MODIFIER,,,,-1;HDAC10,downstream_gene_variant,,ENST00000483222,,,MODIFIER,,,,-1;HDAC10,downstream_gene_variant,,ENST00000496909,,,MODIFIER,,,,-1;TUBGCP6,non_coding_transcript_exon_variant,,ENST00000498611,,n.623G>C,MODIFIER,,,,-1;HDAC10,downstream_gene_variant,,ENST00000415993,,,MODIFIER,,,,-1;HDAC10,downstream_gene_variant,,ENST00000454936,,,MODIFIER,,,,-1;HDAC10,downstream_gene_variant,,ENST00000477814,,,MODIFIER,,,,-1;HDAC10,downstream_gene_variant,,ENST00000429374,,,MODIFIER,,,,-1;HDAC10,downstream_gene_variant,,ENST00000475965,,,MODIFIER,,,,-1;HDAC10,downstream_gene_variant,,ENST00000470378,,,MODIFIER,,,,-1;HDAC10,downstream_gene_variant,,ENST00000497952,,,MODIFIER,,,,-1;HDAC10,downstream_gene_variant,,ENST00000471375,,,MODIFIER,,,,-1;HDAC10,downstream_gene_variant,,ENST00000496235,,,MODIFIER,,,,-1;HDAC10,downstream_gene_variant,,ENST00000476310,,,MODIFIER,,,,-1;HDAC10,downstream_gene_variant,,ENST00000488270,,,MODIFIER,,,,-1 G ENSG00000128159 ENST00000248846 Transcript synonymous_variant synonymous_variant 195/5612 90/5460 30/1819 R cgG/cgC TUBGCP6 HGNC HGNC:18127 protein_coding YES CCDS14087.1 ENSP00000248846 Q96RT7 UPI000013CC55 NM_020461.3 1/25 LOW 1 SNV 1 CTCTTCCGGTT 90d37dff-736a-4cc5-b347-c3560391e123 c6902ad2-5f04-49b5-bfbe-35f0f1cb00fd 0ca48821-c238-4e18-a7aa-a650c3fb5e20 N muse;mutect2;somaticsniper;varscan2 PIM2 11040 TGen GRCh38 chrX 48913835 48913837 + 3'UTR DEL AAC AAC - novel MMRF_2214_1_BM_CD138pos_T1_KHS5U_L08691 MMRF_2214_1_PB_Whole_C3_KHS5U_L08690 Somatic 420d2978-45d2-4aad-b72c-db68d37a380c ee2e8e8d-ba25-4c4c-9d0b-87383c2e5e00 c.*294_*296delGTT ENST00000376509 6/6 24 2 22 36 PIM2,3_prime_UTR_variant,,ENST00000376509,NM_006875.3,c.*294_*296delGTT,MODIFIER,YES,,,-1;SLC35A2,upstream_gene_variant,,ENST00000452555,NM_001282651.1,,MODIFIER,YES,,,-1;SLC35A2,upstream_gene_variant,,ENST00000616181,NM_001282650.1,,MODIFIER,,,,-1;SLC35A2,upstream_gene_variant,,ENST00000376521,NM_001042498.2,,MODIFIER,,,,-1;SLC35A2,upstream_gene_variant,,ENST00000413561,NM_001282649.1,,MODIFIER,,,,-1;SLC35A2,upstream_gene_variant,,ENST00000445167,NM_001032289.2,,MODIFIER,,,,-1;SLC35A2,upstream_gene_variant,,ENST00000247138,NM_005660.2,,MODIFIER,,,,-1;SLC35A2,upstream_gene_variant,,ENST00000376515,NM_001282648.1,,MODIFIER,,,,-1;PIM2,downstream_gene_variant,,ENST00000442430,,,MODIFIER,,,,-1;SLC35A2,upstream_gene_variant,,ENST00000446885,,,MODIFIER,,,,-1;SLC35A2,upstream_gene_variant,,ENST00000376529,NM_001282647.1,,MODIFIER,,,,-1;SLC35A2,upstream_gene_variant,,ENST00000376512,,,MODIFIER,,,,-1;PIM2,downstream_gene_variant,,ENST00000485431,,,MODIFIER,,,,-1 - ENSG00000102096 ENST00000376509 Transcript 3_prime_UTR_variant 3_prime_UTR_variant 1420-1422/2075 -/936 -/311 PIM2 HGNC HGNC:8987 protein_coding YES CCDS14312.1 ENSP00000365692 Q9P1W9 A0A024QYW7 UPI0000049044 NM_006875.3 6/6 MODIFIER 1 deletion 1 AATGGGAACAACTT 90d37dff-736a-4cc5-b347-c3560391e123 c6902ad2-5f04-49b5-bfbe-35f0f1cb00fd 0ca48821-c238-4e18-a7aa-a650c3fb5e20 N pindel;varscan2 ESX1 80712 TGen GRCh38 chrX 104250724 104250724 + Missense_Mutation SNP G G T novel MMRF_2214_1_BM_CD138pos_T1_KHS5U_L08691 MMRF_2214_1_PB_Whole_C3_KHS5U_L08690 Somatic 420d2978-45d2-4aad-b72c-db68d37a380c ee2e8e8d-ba25-4c4c-9d0b-87383c2e5e00 c.725C>A p.Pro242His p.P242H ENST00000372588 4/4 56 0 56 94 ESX1,missense_variant,p.P242H,ENST00000372588,NM_153448.3,c.725C>A,MODERATE,YES,deleterious(0),unknown(0),-1 T ENSG00000123576 ENST00000372588 Transcript missense_variant missense_variant 809/1495 725/1221 242/406 P/H cCt/cAt ESX1 HGNC HGNC:14865 protein_coding YES CCDS14516.1 ENSP00000361669 Q8N693 UPI0000073D09 NM_153448.3 deleterious(0) unknown(0) 4/4 Low_complexity_(Seg):Seg;PROSITE_profiles:PS50099 MODERATE 1 SNV 1 GTCTAGGTAGT 90d37dff-736a-4cc5-b347-c3560391e123 c6902ad2-5f04-49b5-bfbe-35f0f1cb00fd 0ca48821-c238-4e18-a7aa-a650c3fb5e20 N muse;mutect2;somaticsniper;varscan2 GPR101 83550 TGen GRCh38 chrX 137031361 137031361 + Missense_Mutation SNP G G A novel MMRF_2214_1_BM_CD138pos_T1_KHS5U_L08691 MMRF_2214_1_PB_Whole_C3_KHS5U_L08690 Somatic 420d2978-45d2-4aad-b72c-db68d37a380c ee2e8e8d-ba25-4c4c-9d0b-87383c2e5e00 c.314C>T p.Thr105Met p.T105M ENST00000298110 1/1 43 40 3 54 GPR101,missense_variant,p.T105M,ENST00000298110,NM_054021.1,c.314C>T,MODERATE,YES,deleterious(0.01),probably_damaging(0.991),-1 A ENSG00000165370 ENST00000298110 Transcript missense_variant missense_variant 314/1527 314/1527 105/508 T/M aCg/aTg GPR101 HGNC HGNC:14963 protein_coding YES CCDS14662.1 ENSP00000298110 Q96P66 UPI000003BCCD NM_054021.1 deleterious(0.01) probably_damaging(0.991) 1/1 Pfam_domain:PF00001;Pfam_domain:PF10320;Pfam_domain:PF10323;Transmembrane_helices:Tmhmm;PROSITE_profiles:PS50262;Superfamily_domains:SSF81321 MODERATE 1 SNV GGGCCGTGCAG 90d37dff-736a-4cc5-b347-c3560391e123 c6902ad2-5f04-49b5-bfbe-35f0f1cb00fd 0ca48821-c238-4e18-a7aa-a650c3fb5e20 N muse;mutect2 ZNF275 10838 TGen GRCh38 chrX 153347543 153347543 + Silent SNP C C T novel MMRF_2214_1_BM_CD138pos_T1_KHS5U_L08691 MMRF_2214_1_PB_Whole_C3_KHS5U_L08690 Somatic 420d2978-45d2-4aad-b72c-db68d37a380c ee2e8e8d-ba25-4c4c-9d0b-87383c2e5e00 c.858C>T p.= p.I286I ENST00000370251 4/5 52 0 52 92 ZNF275,synonymous_variant,p.I286I,ENST00000370251,NM_001080485.3,c.858C>T,LOW,YES,,,1;ZNF275,synonymous_variant,p.I233I,ENST00000370249,,c.699C>T,LOW,,,,1;ZNF275,upstream_gene_variant,,ENST00000438239,,,MODIFIER,,,,1 T ENSG00000063587 ENST00000370251 Transcript synonymous_variant synonymous_variant 1035/6320 858/990 286/329 I atC/atT ZNF275 HGNC HGNC:13069 protein_coding YES ENSP00000359271 A6NFS0 UPI000059DBB5 NM_001080485.3 4/5 PROSITE_profiles:PS50157;SMART_domains:SM00355;Superfamily_domains:SSF57667 LOW 1 SNV 2 CGCATCCACAG 90d37dff-736a-4cc5-b347-c3560391e123 c6902ad2-5f04-49b5-bfbe-35f0f1cb00fd 0ca48821-c238-4e18-a7aa-a650c3fb5e20 N mutect2;somaticsniper;varscan2