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 Consequence cDNA_position CDS_position Protein_position Amino_acids Codons Existing_variation ALLELE_NUM DISTANCE STRAND_VEP SYMBOL SYMBOL_SOURCE HGNC_ID BIOTYPE CANONICAL CCDS ENSP SWISSPROT TREMBL UNIPARC RefSeq SIFT PolyPhen EXON INTRON DOMAINS AF AFR_AF AMR_AF ASN_AF EAS_AF EUR_AF SAS_AF AA_AF EA_AF CLIN_SIG SOMATIC PUBMED MOTIF_NAME MOTIF_POS HIGH_INF_POS MOTIF_SCORE_CHANGE IMPACT PICK VARIANT_CLASS TSL HGVS_OFFSET PHENO MINIMISED GENE_PHENO FILTER flanking_bps vcf_id vcf_qual gnomAD_AF gnomAD_AFR_AF gnomAD_AMR_AF gnomAD_ASJ_AF gnomAD_EAS_AF gnomAD_FIN_AF gnomAD_NFE_AF gnomAD_OTH_AF gnomAD_SAS_AF vcf_pos KLHL17 339451 . GRCh38 chr1 964151 964151 + Silent SNP C C T rs373377524 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1489C>T p.Leu497= p.L497= ENST00000338591 10/12 NA NA NA NA NA NA KLHL17,synonymous_variant,p.Leu497=,ENST00000338591,NM_198317.3;KLHL17,synonymous_variant,p.Leu220=,ENST00000622660,;NOC2L,upstream_gene_variant,,ENST00000327044,NM_015658.4;PLEKHN1,upstream_gene_variant,,ENST00000379407,NM_001160184.2;PLEKHN1,upstream_gene_variant,,ENST00000379409,;PLEKHN1,upstream_gene_variant,,ENST00000379410,NM_001367552.1,NM_032129.3;NOC2L,upstream_gene_variant,,ENST00000487214,;KLHL17,3_prime_UTR_variant,,ENST00000466300,;KLHL17,non_coding_transcript_exon_variant,,ENST00000481067,;KLHL17,downstream_gene_variant,,ENST00000463212,;NOC2L,upstream_gene_variant,,ENST00000469563,; T ENSG00000187961 ENST00000338591 Transcript synonymous_variant 1599/2567 1489/1929 497/642 L Ctg/Ttg rs373377524,COSV100497980 1 NA 1 KLHL17 HGNC HGNC:24023 protein_coding YES CCDS30550.1 ENSP00000343930 Q6TDP4.136 UPI00001DFBF0 NM_198317.3 10/12 PDB-ENSP_mappings:6hrl.A,PDB-ENSP_mappings:6hrl.B,Gene3D:2.120.10.80,Pfam:PF01344,PANTHER:PTHR24412,PANTHER:PTHR24412:SF168,SMART:SM00612,Superfamily:SSF50965,PIRSF:PIRSF037037 2e-04 NA NA NA NA 0.001 NA NA 0.0001163 0,1 NA NA NA NA LOW 1 SNV 1 NA 0,1 NA NA . CCT . 4887.6 7.995e-06 NA 2.894e-05 NA NA NA 8.873e-06 NA NA 964151 KLHL17 339451 . GRCh38 chr1 965008 965008 + Frame_Shift_Del DEL G G - novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1751del p.Gly584ValfsTer100 p.G584Vfs*100 ENST00000338591 12/12 NA NA NA NA NA NA KLHL17,frameshift_variant,p.Gly584ValfsTer100,ENST00000338591,NM_198317.3;KLHL17,3_prime_UTR_variant,,ENST00000622660,;PLEKHN1,upstream_gene_variant,,ENST00000379407,NM_001160184.2;PLEKHN1,upstream_gene_variant,,ENST00000379409,;PLEKHN1,upstream_gene_variant,,ENST00000379410,NM_001367552.1,NM_032129.3;KLHL17,downstream_gene_variant,,ENST00000463212,;KLHL17,downstream_gene_variant,,ENST00000466300,;KLHL17,downstream_gene_variant,,ENST00000481067,; - ENSG00000187961 ENST00000338591 Transcript frameshift_variant 1856/2567 1746/1929 582/642 V/X gtG/gt 1 NA 1 KLHL17 HGNC HGNC:24023 protein_coding YES CCDS30550.1 ENSP00000343930 Q6TDP4.136 UPI00001DFBF0 NM_198317.3 12/12 PDB-ENSP_mappings:6hrl.A,PDB-ENSP_mappings:6hrl.B,Gene3D:2.120.10.80,Pfam:PF01344,PANTHER:PTHR24412,PANTHER:PTHR24412:SF168,SMART:SM00612,Superfamily:SSF50965,PIRSF:PIRSF037037 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 5 NA NA . GTGG . 5630.6 NA NA NA NA NA NA NA NA NA 965007 AGRN 375790 . GRCh38 chr1 1053926 1053926 + Missense_Mutation SNP G G A rs758968975 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.5825G>A p.Arg1942His p.R1942H ENST00000379370 34/36 NA NA NA NA NA NA AGRN,missense_variant,p.Arg1860His,ENST00000651234,;AGRN,missense_variant,p.Arg1837His,ENST00000652369,NM_001364727.2;AGRN,missense_variant,p.Arg1827His,ENST00000620552,NM_001305275.2;AGRN,missense_variant,p.Arg1942His,ENST00000379370,NM_198576.4;AL645608.5,upstream_gene_variant,,ENST00000418300,;AGRN,non_coding_transcript_exon_variant,,ENST00000461111,;AGRN,downstream_gene_variant,,ENST00000492947,; A ENSG00000188157 ENST00000379370 Transcript missense_variant 5878/7326 5825/6138 1942/2045 R/H cGt/cAt rs758968975 1 NA 1 AGRN HGNC HGNC:329 protein_coding YES CCDS30551.1 ENSP00000368678 O00468.192 UPI00001D7C8B NM_198576.4 tolerated(0.06) benign(0.115) 34/36 Gene3D:2.60.120.200,Pfam:PF00054,PROSITE_profiles:PS50025,PANTHER:PTHR10574,PANTHER:PTHR10574:SF288,SMART:SM00282,Superfamily:SSF49899,CDD:cd00110 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . CGT . 8909.6 2.976e-05 NA 0.0001209 NA NA NA NA 0.0001729 6.922e-05 1053926 MXRA8 54587 . GRCh38 chr1 1354851 1354851 + Silent SNP C C T rs779344525 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.780G>A p.Glu260= p.E260= ENST00000445648 5/10 NA NA NA NA NA NA MXRA8,synonymous_variant,p.Glu251=,ENST00000477278,NM_001282583.2;MXRA8,synonymous_variant,p.Glu260=,ENST00000309212,NM_001282582.1,NM_032348.4;MXRA8,synonymous_variant,p.Glu159=,ENST00000342753,NM_001282584.1;MXRA8,synonymous_variant,p.Glu260=,ENST00000445648,NM_001282585.1;MXRA8,non_coding_transcript_exon_variant,,ENST00000476718,;MXRA8,downstream_gene_variant,,ENST00000460473,;MXRA8,downstream_gene_variant,,ENST00000464351,;MXRA8,upstream_gene_variant,,ENST00000473097,;MXRA8,upstream_gene_variant,,ENST00000474033,;MXRA8,upstream_gene_variant,,ENST00000478517,;,regulatory_region_variant,,ENSR00000344595,; T ENSG00000162576 ENST00000445648 Transcript synonymous_variant 819/2001 780/1353 260/450 E gaG/gaA rs779344525 1 NA -1 MXRA8 HGNC HGNC:7542 protein_coding YES CCDS59951.1 ENSP00000399229 Q9BRK3.158 UPI0000470B85 NM_001282585.1 5/10 Gene3D:2.60.40.10,Pfam:PF07686,PROSITE_profiles:PS50835,PANTHER:PTHR44793,SMART:SM00406,SMART:SM00409,Superfamily:SSF48726 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 2 NA NA NA . GCT . 3970.6 8.268e-06 NA 2.921e-05 NA NA NA 9.327e-06 NA NA 1354851 CDK11B 984 . GRCh38 chr1 1636050 1636050 + Frame_Shift_Del DEL G G - novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2182del p.Leu728SerfsTer20 p.L728Sfs*20 ENST00000407249 19/20 NA NA NA NA NA NA CDK11B,frameshift_variant,p.Leu715SerfsTer20,ENST00000341832,NM_001291345.2,NM_033487.3,NM_033490.3,NM_033486.3;CDK11B,frameshift_variant,p.Leu728SerfsTer20,ENST00000407249,NM_001787.3;CDK11B,frameshift_variant,p.Leu681SerfsTer20,ENST00000340677,NM_033489.3;CDK11B,frameshift_variant,p.Leu718SerfsTer20,ENST00000629312,;CDK11B,frameshift_variant,p.Leu716SerfsTer20,ENST00000629289,;CDK11B,frameshift_variant,p.Leu705SerfsTer20,ENST00000626918,;MMP23B,downstream_gene_variant,,ENST00000356026,NM_006983.2;MMP23B,downstream_gene_variant,,ENST00000378675,;MMP23B,downstream_gene_variant,,ENST00000435358,;MMP23B,downstream_gene_variant,,ENST00000472264,;MMP23B,downstream_gene_variant,,ENST00000479814,;MMP23B,downstream_gene_variant,,ENST00000503792,;CDK11B,3_prime_UTR_variant,,ENST00000611150,;CDK11B,3_prime_UTR_variant,,ENST00000615951,;MMP23B,downstream_gene_variant,,ENST00000486400,;MMP23B,downstream_gene_variant,,ENST00000489782,;MMP23B,downstream_gene_variant,,ENST00000490017,;MMP23B,downstream_gene_variant,,ENST00000512731,; - ENSG00000248333 ENST00000407249 Transcript frameshift_variant 2294/2677 2182/2388 728/795 L/X Ctc/tc 1 NA -1 CDK11B HGNC HGNC:1729 protein_coding YES CCDS72683.1 ENSP00000464036 P21127.217 UPI0003EAF5FB NM_001787.3 19/20 PANTHER:PTHR24056:SF370,PANTHER:PTHR24056,Gene3D:1.10.510.10,Superfamily:SSF56112 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 NA NA NA . GAGG . 101.6 NA NA NA NA NA NA NA NA NA 1636049 CDK11A 984 . GRCh38 chr1 1704086 1704086 + Missense_Mutation SNP C C T rs574343699 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1756G>A p.Val586Met p.V586M ENST00000378633 16/20 NA NA NA NA NA NA CDK11A,missense_variant,p.Val583Met,ENST00000404249,NM_024011.4;CDK11A,missense_variant,p.Val549Met,ENST00000356200,;CDK11A,missense_variant,p.Val586Met,ENST00000378633,NM_001313896.2;CDK11A,missense_variant,p.Val582Met,ENST00000357760,NM_001313982.2;CDK11A,missense_variant,p.Val549Met,ENST00000378638,;CDK11A,missense_variant,p.Val573Met,ENST00000358779,NM_033529.4;AL031282.2,intron_variant,,ENST00000598846,;CDK11A,intron_variant,,ENST00000495016,;CDK11A,3_prime_UTR_variant,,ENST00000460465,;CDK11A,3_prime_UTR_variant,,ENST00000509982,;CDK11A,non_coding_transcript_exon_variant,,ENST00000356937,;CDK11A,non_coding_transcript_exon_variant,,ENST00000463652,;CDK11A,non_coding_transcript_exon_variant,,ENST00000478901,;CDK11A,non_coding_transcript_exon_variant,,ENST00000468800,;CDK11A,non_coding_transcript_exon_variant,,ENST00000491311,;CDK11A,intron_variant,,ENST00000468397,;CDK11A,downstream_gene_variant,,ENST00000464748,;CDK11A,downstream_gene_variant,,ENST00000474916,;CDK11A,downstream_gene_variant,,ENST00000489300,;CDK11A,downstream_gene_variant,,ENST00000492390,;MMP23A,downstream_gene_variant,,ENST00000234610,; T ENSG00000008128 ENST00000378633 Transcript missense_variant 1836/2458 1756/2352 586/783 V/M Gtg/Atg rs574343699 1 NA -1 CDK11A HGNC HGNC:1730 protein_coding YES CCDS81253.1 ENSP00000367900 Q9UQ88.192 UPI00003664B8 NM_001313896.2 deleterious(0) probably_damaging(0.997) 16/20 Gene3D:1.10.510.10,Pfam:PF00069,PROSITE_profiles:PS50011,PANTHER:PTHR24056,PANTHER:PTHR24056:SF370,SMART:SM00220,Superfamily:SSF56112,CDD:cd07843 2e-04 8e-04 NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . ACG . 10972.6 1.25e-05 NA NA NA NA NA 2.77e-05 NA NA 1704086 NADK 65220 . GRCh38 chr1 1752908 1752909 + In_Frame_Ins INS - - CCTCCTCCT rs71578334 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1763_1771dup p.Glu588_Glu590dup p.E588_E590dup ENST00000378625 14/14 NA NA NA NA NA NA NADK,inframe_insertion,p.Glu588_Glu590dup,ENST00000378625,NM_001198994.2;NADK,inframe_insertion,p.Glu443_Glu445dup,ENST00000341426,NM_023018.5;NADK,inframe_insertion,p.Glu443_Glu445dup,ENST00000341991,NM_001353641.2,NM_001198993.2;NADK,inframe_insertion,p.Glu411_Glu413dup,ENST00000342348,NM_001353642.2,NM_001198995.1;NADK,downstream_gene_variant,,ENST00000469045,;NADK,downstream_gene_variant,,ENST00000492768,;NADK,downstream_gene_variant,,ENST00000460602,;NADK,downstream_gene_variant,,ENST00000477235,;NADK,downstream_gene_variant,,ENST00000480499,;NADK,downstream_gene_variant,,ENST00000489538,;NADK,downstream_gene_variant,,ENST00000492845,;NADK,downstream_gene_variant,,ENST00000497186,;NADK,downstream_gene_variant,,ENST00000497615,;NADK,downstream_gene_variant,,ENST00000497747,;NADK,downstream_gene_variant,,ENST00000498806,;,regulatory_region_variant,,ENSR00000344712,; CCTCCTCCT ENSG00000008130 ENST00000378625 Transcript inframe_insertion 1976-1977/3653 1771-1772/1776 591/591 G/EEEG ggc/gAGGAGGAGGgc rs71578334 1 NA -1 NADK HGNC HGNC:29831 protein_coding YES CCDS55562.1 ENSP00000367890 O95544.170 UPI000013CBEB NM_001198994.2 14/14 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 insertion 1 NA NA NA . GCC . 1929.64 0.0001351 NA 0.0001697 NA NA NA 0.0001848 NA 0.0002484 1752908 CFAP74 85452 . GRCh38 chr1 1985446 1985446 + Missense_Mutation SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.440C>T p.Ala147Val p.A147V ENST00000493964 6/38 NA NA NA NA NA NA CFAP74,missense_variant,p.Ala147Val,ENST00000493964,NM_001304360.2;CFAP74,downstream_gene_variant,,ENST00000378590,;CFAP74,non_coding_transcript_exon_variant,,ENST00000270720,;CFAP74,non_coding_transcript_exon_variant,,ENST00000468610,;CFAP74,non_coding_transcript_exon_variant,,ENST00000378592,; A ENSG00000142609 ENST00000493964 Transcript missense_variant 596/5247 440/4755 147/1584 A/V gCa/gTa 1 NA -1 CFAP74 HGNC HGNC:29368 protein_coding YES ENSP00000417061 Q9C0B2.110 UPI0004620AE2 NM_001304360.2 tolerated(0.11) benign(0.001) 6/38 PANTHER:PTHR22538 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . TGC . 1710.6 NA NA NA NA NA NA NA NA NA 1985446 MEGF6 1953 . GRCh38 chr1 3501865 3501865 + Frame_Shift_Del DEL C C - rs755877822 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2245del p.Ala749ProfsTer223 p.A749Pfs*223 ENST00000356575 18/37 NA NA NA NA NA NA MEGF6,frameshift_variant,p.Ala749ProfsTer223,ENST00000356575,NM_001409.4;MEGF6,frameshift_variant,p.Ala644ProfsTer223,ENST00000294599,;MEGF6,frameshift_variant,p.Ala756ProfsTer223,ENST00000485002,;,regulatory_region_variant,,ENSR00000345218,;,regulatory_region_variant,,ENSR00000918782,; - ENSG00000162591 ENST00000356575 Transcript frameshift_variant 2485/7443 2245/4626 749/1541 A/X Gcc/cc rs755877822 1 NA -1 MEGF6 HGNC HGNC:3232 protein_coding YES CCDS41237.1 ENSP00000348982 O75095.153 UPI0000DACACB NM_001409.4 18/37 Gene3D:2.170.300.10,PROSITE_profiles:PS50026,PANTHER:PTHR24035,PANTHER:PTHR24035:SF106,SMART:SM00180,SMART:SM00181 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 NA NA NA . GGCC . 1336.6 9.359e-05 6.858e-05 0.0002521 0.0001059 5.918e-05 NA 7.533e-05 NA 0.0001018 3501864 RPL22 6146 . GRCh38 chr1 6197725 6197725 + Frame_Shift_Del DEL T T - rs759765382 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.44del p.Lys15ArgfsTer5 p.K15Rfs*5 ENST00000234875 2/4 NA NA NA NA NA NA RPL22,frameshift_variant,p.Lys15ArgfsTer5,ENST00000234875,NM_000983.4;RPL22,5_prime_UTR_variant,,ENST00000465335,;RPL22,5_prime_UTR_variant,,ENST00000497965,;RPL22,5_prime_UTR_variant,,ENST00000462296,;RPL22,5_prime_UTR_variant,,ENST00000471204,;RPL22,5_prime_UTR_variant,,ENST00000465387,;AL031847.1,5_prime_UTR_variant,,ENST00000484532,;RPL22,non_coding_transcript_exon_variant,,ENST00000480661,;,regulatory_region_variant,,ENSR00000000615,; - ENSG00000116251 ENST00000234875 Transcript frameshift_variant 66/2061 44/387 15/128 K/X aAg/ag rs759765382,COSV52379423 1 NA -1 RPL22 HGNC HGNC:10315 protein_coding YES CCDS58.1 ENSP00000346088 P35268.194 UPI000015A487 NM_000983.4 2/4 PDB-ENSP_mappings:4ug0.LU,PDB-ENSP_mappings:4v6x.CU,PDB-ENSP_mappings:5aj0.AU,PDB-ENSP_mappings:5lks.LU,PDB-ENSP_mappings:5t2c.O,PDB-ENSP_mappings:6ek0.LU,PDB-ENSP_mappings:6ip5.2O,PDB-ENSP_mappings:6ip6.2O,PDB-ENSP_mappings:6ip8.2O,PDB-ENSP_mappings:6y0g.LU,PDB-ENSP_mappings:6y2l.LU,PDB-ENSP_mappings:6y57.LU,PANTHER:PTHR10064,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA HIGH 1 deletion 1 NA 0,1 NA 1 . TCTT . 4891.64 2.012e-05 NA NA NA 5.525e-05 NA 3.547e-05 NA NA 6197724 PER3 8863 . GRCh38 chr1 7829950 7829950 + Frame_Shift_Del DEL A A - rs1464727908 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3003del p.Gly1002AspfsTer5 p.G1002Dfs*5 ENST00000613533 19/22 NA NA NA NA NA NA PER3,frameshift_variant,p.Gly1002AspfsTer5,ENST00000613533,NM_001289862.2;PER3,frameshift_variant,p.Gly1002AspfsTer5,ENST00000377532,NM_001377275.1;PER3,frameshift_variant,p.Gly1001AspfsTer5,ENST00000614998,NM_001289861.2,NM_001289863.3,NM_001289864.3;PER3,frameshift_variant,p.Gly993AspfsTer5,ENST00000361923,NM_016831.4,NM_001377276.1;Z98884.1,upstream_gene_variant,,ENST00000451646,; - ENSG00000049246 ENST00000613533 Transcript frameshift_variant 3267/6318 3003/3633 1001/1210 T/X acA/ac rs1464727908 1 NA 1 PER3 HGNC HGNC:8847 protein_coding YES CCDS72695.1 ENSP00000482093 P56645.175 UPI00003664CA NM_001289862.2 19/22 PANTHER:PTHR11269,PANTHER:PTHR11269:SF13,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH NA deletion 5 NA NA 1 . ACAG . 165.6 8.677e-06 0.000135 NA NA NA NA NA NA NA 7829949 KIF1B 23095 . GRCh38 chr1 10334629 10334629 + Missense_Mutation SNP G G A rs1452348803 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3034G>A p.Ala1012Thr p.A1012T ENST00000377081 27/48 NA NA NA NA NA NA KIF1B,missense_variant,p.Ala1012Thr,ENST00000676179,NM_001365951.3;KIF1B,missense_variant,p.Ala1012Thr,ENST00000377086,NM_001365952.1;KIF1B,missense_variant,p.Ala1012Thr,ENST00000377081,;KIF1B,missense_variant,p.Ala998Thr,ENST00000620295,;KIF1B,missense_variant,p.Ala986Thr,ENST00000622724,;KIF1B,missense_variant,p.Ala966Thr,ENST00000263934,NM_015074.3; A ENSG00000054523 ENST00000377081 Transcript missense_variant 3113/8746 3034/5472 1012/1823 A/T Gcc/Acc rs1452348803 1 NA 1 KIF1B HGNC HGNC:16636 protein_coding YES ENSP00000366284 O60333.212 UPI000051912B deleterious(0.01) probably_damaging(0.998) 27/48 PANTHER:PTHR24115,PANTHER:PTHR24115:SF328 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . GGC . 5948.6 3.979e-06 NA NA NA NA NA 8.801e-06 NA NA 10334629 EXOSC10 5394 . GRCh38 chr1 11099753 11099753 + Missense_Mutation SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.79C>T p.Pro27Ser p.P27S ENST00000376936 1/25 NA NA NA NA NA NA EXOSC10,missense_variant,p.Pro27Ser,ENST00000376936,NM_001001998.3;EXOSC10,missense_variant,p.Pro27Ser,ENST00000304457,NM_002685.4;EXOSC10-AS1,non_coding_transcript_exon_variant,,ENST00000447600,;EXOSC10-AS1,non_coding_transcript_exon_variant,,ENST00000435388,;EXOSC10,missense_variant,p.Pro27Ser,ENST00000460196,;,regulatory_region_variant,,ENSR00000001378,; A ENSG00000171824 ENST00000376936 Transcript missense_variant 117/2796 79/2658 27/885 P/S Cca/Tca 1 NA -1 EXOSC10 HGNC HGNC:9138 protein_coding YES CCDS30584.1 ENSP00000366135 Q01780.211 UPI0000001C90 NM_001001998.3 deleterious(0.01) possibly_damaging(0.625) 1/25 PDB-ENSP_mappings:6d6q.J,PDB-ENSP_mappings:6d6r.J,PANTHER:PTHR12124,PANTHER:PTHR12124:SF47 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . GGC . 1277.6 NA NA NA NA NA NA NA NA NA 11099753 KIAA2013 90231 . GRCh38 chr1 11925931 11925931 + Missense_Mutation SNP C C T rs746068029 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.307G>A p.Ala103Thr p.A103T ENST00000376576 1/2 NA NA NA NA NA NA KIAA2013,missense_variant,p.Ala103Thr,ENST00000376572,NM_138346.3;KIAA2013,missense_variant,p.Ala103Thr,ENST00000376576,;KIAA2013,missense_variant,p.Ala103Thr,ENST00000616327,;,regulatory_region_variant,,ENSR00000001461,; T ENSG00000116685 ENST00000376576 Transcript missense_variant 498/2539 307/2004 103/667 A/T Gct/Act rs746068029 1 NA -1 KIAA2013 HGNC HGNC:28513 protein_coding YES ENSP00000365760 Q8IYS2.121 UPI0000470A2D tolerated(0.51) benign(0.025) 1/2 PANTHER:PTHR31386,Pfam:PF10222 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 2 NA NA NA . GCC . 461.6 NA NA NA NA NA NA NA NA NA 11925931 MFN2 9927 . GRCh38 chr1 11992679 11992679 + Frame_Shift_Del DEL T T - rs777012596 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.306del p.Phe102LeufsTer11 p.F102Lfs*11 ENST00000675298 4/19 NA NA NA NA NA NA MFN2,frameshift_variant,p.Phe102LeufsTer11,ENST00000675231,;MFN2,frameshift_variant,p.Phe102LeufsTer11,ENST00000675817,;MFN2,frameshift_variant,p.Phe102LeufsTer11,ENST00000674548,;MFN2,frameshift_variant,p.Phe102LeufsTer11,ENST00000675053,;MFN2,frameshift_variant,p.Phe102LeufsTer11,ENST00000674910,;MFN2,frameshift_variant,p.Phe102LeufsTer11,ENST00000444836,NM_001127660.1;MFN2,frameshift_variant,p.Phe102LeufsTer11,ENST00000676293,;MFN2,frameshift_variant,p.Phe102LeufsTer11,ENST00000674817,;MFN2,frameshift_variant,p.Phe102LeufsTer11,ENST00000675919,;MFN2,frameshift_variant,p.Phe102LeufsTer11,ENST00000675113,;MFN2,frameshift_variant,p.Phe102LeufsTer11,ENST00000235329,NM_014874.4;MFN2,frameshift_variant,p.Phe102LeufsTer11,ENST00000675298,;MFN2,intron_variant,,ENST00000674658,;MFN2,downstream_gene_variant,,ENST00000412236,;MFN2,downstream_gene_variant,,ENST00000675530,;MFN2,downstream_gene_variant,,ENST00000675781,;MFN2,downstream_gene_variant,,ENST00000676369,;MFN2,non_coding_transcript_exon_variant,,ENST00000675483,;MFN2,downstream_gene_variant,,ENST00000484391,;MFN2,downstream_gene_variant,,ENST00000490079,;MFN2,frameshift_variant,p.Phe102LeufsTer11,ENST00000675987,;MFN2,frameshift_variant,p.Phe102LeufsTer11,ENST00000676426,;MFN2,3_prime_UTR_variant,,ENST00000675512,;MFN2,non_coding_transcript_exon_variant,,ENST00000675959,;MFN2,non_coding_transcript_exon_variant,,ENST00000675872,;MFN2,non_coding_transcript_exon_variant,,ENST00000675194,;MFN2,non_coding_transcript_exon_variant,,ENST00000674706,;MFN2,downstream_gene_variant,,ENST00000497302,;MFN2,upstream_gene_variant,,ENST00000675374,; - ENSG00000116688 ENST00000675298 Transcript frameshift_variant 725/3584 300/2427 100/808 A/X gcT/gc rs777012596 1 NA 1 MFN2 HGNC HGNC:16877 protein_coding YES ENSP00000501839 4/19 PROSITE_profiles:PS51718,CDD:cd09912,PANTHER:PTHR10465,PANTHER:PTHR10465:SF1,Pfam:PF00350,Gene3D:3.40.50.300,Superfamily:SSF52540 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion NA 6 NA 1 . GCTT . 3717.6 NA NA NA NA NA NA NA NA NA 11992678 VPS13D 55187 . GRCh38 chr1 12299261 12299261 + Silent SNP C C T rs143808117 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.6093C>T p.Pro2031= p.P2031= ENST00000620676 25/70 NA NA NA NA NA NA VPS13D,synonymous_variant,p.Pro2031=,ENST00000620676,NM_015378.4;VPS13D,synonymous_variant,p.Pro2031=,ENST00000613099,NM_018156.4;VPS13D,synonymous_variant,p.Pro854=,ENST00000011700,;VPS13D,synonymous_variant,p.Pro254=,ENST00000646917,;VPS13D,upstream_gene_variant,,ENST00000460333,;,regulatory_region_variant,,ENSR00000919868,; T ENSG00000048707 ENST00000620676 Transcript synonymous_variant 6260/16357 6093/13167 2031/4388 P ccC/ccT rs143808117 1 NA 1 VPS13D HGNC HGNC:23595 protein_coding YES CCDS30588.1 ENSP00000478104 Q5THJ4.129 UPI0000451CA9 NM_015378.4 25/70 PANTHER:PTHR16166,PANTHER:PTHR16166:SF93 NA NA NA NA NA NA NA 0.000227 NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . CCG . 1324.6 1.593e-05 6.155e-05 2.902e-05 NA 5.445e-05 NA NA NA 3.274e-05 12299261 VPS13D 55187 . GRCh38 chr1 12311822 12311822 + Missense_Mutation SNP A A G novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.6832A>G p.Ser2278Gly p.S2278G ENST00000620676 29/70 NA NA NA NA NA NA VPS13D,missense_variant,p.Ser2278Gly,ENST00000620676,NM_015378.4;VPS13D,missense_variant,p.Ser2278Gly,ENST00000613099,NM_018156.4;VPS13D,missense_variant,p.Ser1101Gly,ENST00000011700,;VPS13D,non_coding_transcript_exon_variant,,ENST00000487188,;VPS13D,missense_variant,p.Ser501Gly,ENST00000646917,;VPS13D,non_coding_transcript_exon_variant,,ENST00000460333,; G ENSG00000048707 ENST00000620676 Transcript missense_variant 6999/16357 6832/13167 2278/4388 S/G Agt/Ggt 1 NA 1 VPS13D HGNC HGNC:23595 protein_coding YES CCDS30588.1 ENSP00000478104 Q5THJ4.129 UPI0000451CA9 NM_015378.4 deleterious(0) possibly_damaging(0.859) 29/70 PANTHER:PTHR16166,PANTHER:PTHR16166:SF93 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . GAG . 1862.6 NA NA NA NA NA NA NA NA NA 12311822 C1orf158 93190 . GRCh38 chr1 12755770 12755770 + Missense_Mutation SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.182G>A p.Arg61Lys p.R61K ENST00000614859 2/4 NA NA NA NA NA NA C1orf158,missense_variant,p.Arg61Lys,ENST00000614859,NM_152290.4;C1orf158,intron_variant,,ENST00000376210,NM_001330361.2;C1orf158,downstream_gene_variant,,ENST00000474179,; A ENSG00000157330 ENST00000614859 Transcript missense_variant 413/3564 182/585 61/194 R/K aGa/aAa 1 NA 1 C1orf158 HGNC HGNC:28567 protein_coding YES CCDS147.1 ENSP00000477802 Q8N1D5.106 UPI000006E055 NM_152290.4 tolerated(0.9) benign(0.026) 2/4 PANTHER:PTHR31180 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . AGA . 853.6 NA NA NA NA NA NA NA NA NA 12755770 PRAMEF12 390999 . GRCh38 chr1 12775635 12775635 + Missense_Mutation SNP T T C novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.380T>C p.Leu127Pro p.L127P ENST00000357726 2/3 NA NA NA NA NA NA PRAMEF12,missense_variant,p.Leu127Pro,ENST00000357726,NM_001080830.5; C ENSG00000116726 ENST00000357726 Transcript missense_variant 1510/2889 380/1452 127/483 L/P cTg/cCg 1 NA 1 PRAMEF12 HGNC HGNC:22125 protein_coding YES CCDS41254.1 ENSP00000350358 O95522.125 UPI0000EE6E0A NM_001080830.5 tolerated(0.26) benign(0.029) 2/3 PANTHER:PTHR14224,PANTHER:PTHR14224:SF84,PIRSF:PIRSF038286 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 2 NA NA NA . CTG . 3974.6 NA NA NA NA NA NA NA NA NA 12775635 PRAMEF11 0 . GRCh38 chr1 12825431 12825431 + Silent SNP T T G rs1736831 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.948A>C p.Leu316= p.L316= ENST00000619922 4/4 NA NA NA NA NA NA PRAMEF11,synonymous_variant,p.Leu316=,ENST00000619922,NM_001146344.3;LINC01784,upstream_gene_variant,,ENST00000438401,; G ENSG00000239810 ENST00000619922 Transcript synonymous_variant 1019/1845 948/1437 316/478 L ctA/ctC rs1736831 1 NA -1 PRAMEF11 HGNC HGNC:14086 protein_coding YES CCDS53268.2 ENSP00000480027 O60813.129 UPI0003EAF149 NM_001146344.3 4/4 Gene3D:3.80.10.10,PIRSF:PIRSF038286,PANTHER:PTHR14224,PANTHER:PTHR14224:SF19,Superfamily:SSF52047 NA 0.8101 0.6499 NA 0.3105 0.5447 0.682 NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . ATA . 1327.6 NA NA NA NA NA NA NA NA NA 12825431 PRAMEF11 0 . GRCh38 chr1 12827720 12827720 + Missense_Mutation SNP T T G rs2486717 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.404A>C p.Lys135Thr p.K135T ENST00000619922 3/4 NA NA NA NA NA NA PRAMEF11,missense_variant,p.Lys135Thr,ENST00000619922,NM_001146344.3;LINC01784,upstream_gene_variant,,ENST00000438401,; G ENSG00000239810 ENST00000619922 Transcript missense_variant 475/1845 404/1437 135/478 K/T aAa/aCa rs2486717 1 NA -1 PRAMEF11 HGNC HGNC:14086 protein_coding YES CCDS53268.2 ENSP00000480027 O60813.129 UPI0003EAF149 NM_001146344.3 tolerated(0.41) benign(0.204) 3/4 PIRSF:PIRSF038286,PANTHER:PTHR14224,PANTHER:PTHR14224:SF19 NA 1 1 NA 0.9921 1 0.9959 NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . TTT . 34510.03 NA NA NA NA NA NA NA NA NA 12827720 PRAMEF10 343071 . GRCh38 chr1 12893335 12893335 + Missense_Mutation SNP T T G rs2637920 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1006A>C p.Asn336His p.N336H ENST00000235347 4/4 NA NA NA NA NA NA PRAMEF10,missense_variant,p.Asn336His,ENST00000235347,NM_001039361.4; G ENSG00000187545 ENST00000235347 Transcript missense_variant 1086/1525 1006/1425 336/474 N/H Aat/Cat rs2637920 1 NA -1 PRAMEF10 HGNC HGNC:27997 protein_coding YES CCDS41255.1 ENSP00000235347 O60809.139 UPI000442CF00 NM_001039361.4 tolerated(0.05) benign(0.023) 4/4 Superfamily:SSF52047,PIRSF:PIRSF038286,PANTHER:PTHR14224,PANTHER:PTHR14224:SF28 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . TTG . 12786.6 NA NA NA NA NA NA NA NA NA 12893335 PRAMEF10 343071 . GRCh38 chr1 12894694 12894694 + Nonsense_Mutation SNP C C T rs2260233 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.758G>A p.Trp253Ter p.W253* ENST00000235347 3/4 NA NA NA NA NA NA PRAMEF10,stop_gained,p.Trp253Ter,ENST00000235347,NM_001039361.4; T ENSG00000187545 ENST00000235347 Transcript stop_gained 838/1525 758/1425 253/474 W/* tGg/tAg rs2260233 1 NA -1 PRAMEF10 HGNC HGNC:27997 protein_coding YES CCDS41255.1 ENSP00000235347 O60809.139 UPI000442CF00 NM_001039361.4 3/4 Superfamily:SSF52047,PIRSF:PIRSF038286,PANTHER:PTHR14224,PANTHER:PTHR14224:SF28 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 SNV 1 NA NA NA . CCA . 106.6 4.019e-06 NA NA NA NA NA 8.864e-06 NA NA 12894694 PRAMEF10 343071 . GRCh38 chr1 12895136 12895136 + Silent SNP T T G rs3888718 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.316A>C p.Arg106= p.R106= ENST00000235347 3/4 NA NA NA NA NA NA PRAMEF10,synonymous_variant,p.Arg106=,ENST00000235347,NM_001039361.4; G ENSG00000187545 ENST00000235347 Transcript synonymous_variant 396/1525 316/1425 106/474 R Agg/Cgg rs3888718 1 NA -1 PRAMEF10 HGNC HGNC:27997 protein_coding YES CCDS41255.1 ENSP00000235347 O60809.139 UPI000442CF00 NM_001039361.4 3/4 PIRSF:PIRSF038286,PANTHER:PTHR14224,PANTHER:PTHR14224:SF28 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . CTC . 6975.6 NA NA NA NA NA NA NA NA NA 12895136 PRAMEF10 343071 . GRCh38 chr1 12895156 12895156 + Missense_Mutation SNP T T A rs3121398 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.296A>T p.Lys99Ile p.K99I ENST00000235347 3/4 NA NA NA NA NA NA PRAMEF10,missense_variant,p.Lys99Ile,ENST00000235347,NM_001039361.4; A ENSG00000187545 ENST00000235347 Transcript missense_variant 376/1525 296/1425 99/474 K/I aAa/aTa rs3121398 1 NA -1 PRAMEF10 HGNC HGNC:27997 protein_coding YES CCDS41255.1 ENSP00000235347 O60809.139 UPI000442CF00 NM_001039361.4 deleterious(0) probably_damaging(0.983) 3/4 PIRSF:PIRSF038286,PANTHER:PTHR14224,PANTHER:PTHR14224:SF28 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . TTT . 5365.6 1.902e-05 NA 3.648e-05 NA NA NA 2.091e-05 0.0001962 NA 12895156 PRAMEF7 441871 . GRCh38 chr1 12920307 12920307 + Missense_Mutation SNP T T C rs1832597 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1319T>C p.Leu440Pro p.L440P ENST00000616979 4/4 NA NA NA NA NA NA PRAMEF7,missense_variant,p.Leu440Pro,ENST00000616979,NM_001012277.4;PRAMEF7,missense_variant,p.Leu440Pro,ENST00000330881,;RNU6-1072P,upstream_gene_variant,,ENST00000384703,; C ENSG00000204510 ENST00000616979 Transcript missense_variant 1417/1592 1319/1425 440/474 L/P cTg/cCg rs1832597 1 NA 1 PRAMEF7 HGNC HGNC:28415 protein_coding YES CCDS30593.1 ENSP00000484237 Q5VXH5.120 UPI000058F1DF NM_001012277.4 deleterious(0.01) benign(0.162) 4/4 PANTHER:PTHR14224:SF30,PANTHER:PTHR14224,PIRSF:PIRSF038286 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . CTG . 4504.6 NA NA NA NA NA NA NA NA NA 12920307 PRAMEF9 0 . GRCh38 chr1 13175322 13175322 + Silent SNP G G T rs879181951 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.42G>T p.Leu14= p.L14= ENST00000415919 2/4 NA NA NA NA NA NA PRAMEF9,synonymous_variant,p.Leu14=,ENST00000415919,NM_001010890.2; T ENSG00000204505 ENST00000415919 Transcript synonymous_variant 136/1863 42/1437 14/478 L ctG/ctT rs879181951 1 NA 1 PRAMEF9 HGNC HGNC:27996 protein_coding YES CCDS76108.1 ENSP00000485258 A0A096LNW4.39 UPI000442D019 NM_001010890.2 2/4 PANTHER:PTHR14224,PANTHER:PTHR14224:SF19,PIRSF:PIRSF038286 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . TGG . 987.03 NA NA NA NA NA NA NA NA NA 13175322 PRAMEF9 0 . GRCh38 chr1 13175352 13175352 + Silent SNP C C T rs2933094 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.72C>T p.Ala24= p.A24= ENST00000415919 2/4 NA NA NA NA NA NA PRAMEF9,synonymous_variant,p.Ala24=,ENST00000415919,NM_001010890.2; T ENSG00000204505 ENST00000415919 Transcript synonymous_variant 166/1863 72/1437 24/478 A gcC/gcT rs2933094 1 NA 1 PRAMEF9 HGNC HGNC:27996 protein_coding YES CCDS76108.1 ENSP00000485258 A0A096LNW4.39 UPI000442D019 NM_001010890.2 2/4 PANTHER:PTHR14224,PANTHER:PTHR14224:SF19,PIRSF:PIRSF038286 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . CCT . 1292.03 NA NA NA NA NA NA NA NA NA 13175352 PRAMEF9 0 . GRCh38 chr1 13176324 13176324 + Missense_Mutation SNP C C G rs1355578841 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.377C>G p.Ser126Cys p.S126C ENST00000415919 3/4 NA NA NA NA NA NA PRAMEF9,missense_variant,p.Ser126Cys,ENST00000415919,NM_001010890.2; G ENSG00000204505 ENST00000415919 Transcript missense_variant 471/1863 377/1437 126/478 S/C tCc/tGc rs1355578841 1 NA 1 PRAMEF9 HGNC HGNC:27996 protein_coding YES CCDS76108.1 ENSP00000485258 A0A096LNW4.39 UPI000442D019 NM_001010890.2 tolerated(1) benign(0) 3/4 PANTHER:PTHR14224,PANTHER:PTHR14224:SF19,PIRSF:PIRSF038286 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . TCC . 1246.03 NA NA NA NA NA NA NA NA NA 13176324 PRAMEF9 0 . GRCh38 chr1 13176384 13176384 + Missense_Mutation SNP A A G rs1339853792 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.437A>G p.Gln146Arg p.Q146R ENST00000415919 3/4 NA NA NA NA NA NA PRAMEF9,missense_variant,p.Gln146Arg,ENST00000415919,NM_001010890.2; G ENSG00000204505 ENST00000415919 Transcript missense_variant 531/1863 437/1437 146/478 Q/R cAg/cGg rs1339853792 1 NA 1 PRAMEF9 HGNC HGNC:27996 protein_coding YES CCDS76108.1 ENSP00000485258 A0A096LNW4.39 UPI000442D019 NM_001010890.2 tolerated(0.47) benign(0.007) 3/4 PANTHER:PTHR14224,PANTHER:PTHR14224:SF19,PIRSF:PIRSF038286 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CAG . 608.03 NA NA NA NA NA NA NA NA NA 13176384 PRAMEF9 0 . GRCh38 chr1 13178750 13178750 + Missense_Mutation SNP C C T rs1263798891 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1055C>T p.Ala352Val p.A352V ENST00000415919 4/4 NA NA NA NA NA NA PRAMEF9,missense_variant,p.Ala352Val,ENST00000415919,NM_001010890.2; T ENSG00000204505 ENST00000415919 Transcript missense_variant 1149/1863 1055/1437 352/478 A/V gCc/gTc rs1263798891 1 NA 1 PRAMEF9 HGNC HGNC:27996 protein_coding YES CCDS76108.1 ENSP00000485258 A0A096LNW4.39 UPI000442D019 NM_001010890.2 deleterious(0.02) possibly_damaging(0.499) 4/4 PANTHER:PTHR14224,PANTHER:PTHR14224:SF19,Gene3D:3.80.10.10,PIRSF:PIRSF038286,Superfamily:SSF52047 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . GCC . 1415.03 NA NA NA NA NA NA NA NA NA 13178750 PRAMEF9 0 . GRCh38 chr1 13178764 13178764 + Silent SNP T T C rs1466382608 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1069T>C p.Leu357= p.L357= ENST00000415919 4/4 NA NA NA NA NA NA PRAMEF9,synonymous_variant,p.Leu357=,ENST00000415919,NM_001010890.2; C ENSG00000204505 ENST00000415919 Transcript synonymous_variant 1163/1863 1069/1437 357/478 L Ttg/Ctg rs1466382608 1 NA 1 PRAMEF9 HGNC HGNC:27996 protein_coding YES CCDS76108.1 ENSP00000485258 A0A096LNW4.39 UPI000442D019 NM_001010890.2 4/4 PANTHER:PTHR14224,PANTHER:PTHR14224:SF19,Gene3D:3.80.10.10,PIRSF:PIRSF038286,Superfamily:SSF52047 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . CTT . 1649.03 NA NA NA NA NA NA NA NA NA 13178764 PRAMEF9 0 . GRCh38 chr1 13178805 13178805 + Silent SNP C C T rs1266607628 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1110C>T p.Asn370= p.N370= ENST00000415919 4/4 NA NA NA NA NA NA PRAMEF9,synonymous_variant,p.Asn370=,ENST00000415919,NM_001010890.2; T ENSG00000204505 ENST00000415919 Transcript synonymous_variant 1204/1863 1110/1437 370/478 N aaC/aaT rs1266607628 1 NA 1 PRAMEF9 HGNC HGNC:27996 protein_coding YES CCDS76108.1 ENSP00000485258 A0A096LNW4.39 UPI000442D019 NM_001010890.2 4/4 PANTHER:PTHR14224,PANTHER:PTHR14224:SF19,Gene3D:3.80.10.10,PIRSF:PIRSF038286,Superfamily:SSF52047 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . ACG . 2666.03 NA NA NA NA NA NA NA NA NA 13178805 PRAMEF9 0 . GRCh38 chr1 13178835 13178835 + Missense_Mutation SNP T T G rs1211386606 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1140T>G p.Phe380Leu p.F380L ENST00000415919 4/4 NA NA NA NA NA NA PRAMEF9,missense_variant,p.Phe380Leu,ENST00000415919,NM_001010890.2; G ENSG00000204505 ENST00000415919 Transcript missense_variant 1234/1863 1140/1437 380/478 F/L ttT/ttG rs1211386606 1 NA 1 PRAMEF9 HGNC HGNC:27996 protein_coding YES CCDS76108.1 ENSP00000485258 A0A096LNW4.39 UPI000442D019 NM_001010890.2 tolerated(0.22) benign(0.009) 4/4 PANTHER:PTHR14224,PANTHER:PTHR14224:SF19,Gene3D:3.80.10.10,PIRSF:PIRSF038286,Superfamily:SSF52047 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . TTG . 3706.03 NA NA NA NA NA NA NA NA NA 13178835 PRAMEF18 0 . GRCh38 chr1 13223363 13223363 + Missense_Mutation SNP G G A rs78574397 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1409C>T p.Ser470Phe p.S470F ENST00000624297 3/3 NA NA NA NA NA NA PRAMEF18,missense_variant,p.Ser470Phe,ENST00000624297,NM_001099850.2;,regulatory_region_variant,,ENSR00000250311,; A ENSG00000279804 ENST00000624297 Transcript missense_variant 1409/2067 1409/1440 470/479 S/F tCc/tTc rs78574397 1 NA -1 PRAMEF18 HGNC HGNC:30693 protein_coding YES CCDS41258.2 ENSP00000485473 Q5VWM3.103 UPI0004423C16 NM_001099850.2 tolerated(0.75) benign(0) 3/3 PIRSF:PIRSF038286,PANTHER:PTHR14224,PANTHER:PTHR14224:SF79 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . GGA . 613.03 NA NA NA NA NA NA NA NA NA 13223363 PRAMEF18 0 . GRCh38 chr1 13223492 13223492 + Missense_Mutation SNP A A G rs55667172 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1280T>C p.Leu427Ser p.L427S ENST00000624297 3/3 NA NA NA NA NA NA PRAMEF18,missense_variant,p.Leu427Ser,ENST00000624297,NM_001099850.2;,regulatory_region_variant,,ENSR00000250311,; G ENSG00000279804 ENST00000624297 Transcript missense_variant 1280/2067 1280/1440 427/479 L/S tTg/tCg rs55667172 1 NA -1 PRAMEF18 HGNC HGNC:30693 protein_coding YES CCDS41258.2 ENSP00000485473 Q5VWM3.103 UPI0004423C16 NM_001099850.2 tolerated(0.83) benign(0) 3/3 PIRSF:PIRSF038286,PANTHER:PTHR14224,PANTHER:PTHR14224:SF79 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CAA . 2531.03 NA NA NA NA NA NA NA NA NA 13223492 PRAMEF18 0 . GRCh38 chr1 13223511 13223511 + Missense_Mutation SNP T T C rs28609879 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1261A>G p.Asn421Asp p.N421D ENST00000624297 3/3 NA NA NA NA NA NA PRAMEF18,missense_variant,p.Asn421Asp,ENST00000624297,NM_001099850.2;,regulatory_region_variant,,ENSR00000250311,; C ENSG00000279804 ENST00000624297 Transcript missense_variant 1261/2067 1261/1440 421/479 N/D Aac/Gac rs28609879 1 NA -1 PRAMEF18 HGNC HGNC:30693 protein_coding YES CCDS41258.2 ENSP00000485473 Q5VWM3.103 UPI0004423C16 NM_001099850.2 tolerated(0.31) benign(0.005) 3/3 Gene3D:3.80.10.10,PIRSF:PIRSF038286,PANTHER:PTHR14224,PANTHER:PTHR14224:SF79 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . TTG . 2551.03 NA NA NA NA NA NA NA NA NA 13223511 PRAMEF18 0 . GRCh38 chr1 13223512 13223512 + Silent SNP G G A rs28393762 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1260C>T p.Asp420= p.D420= ENST00000624297 3/3 NA NA NA NA NA NA PRAMEF18,synonymous_variant,p.Asp420=,ENST00000624297,NM_001099850.2;,regulatory_region_variant,,ENSR00000250311,; A ENSG00000279804 ENST00000624297 Transcript synonymous_variant 1260/2067 1260/1440 420/479 D gaC/gaT rs28393762 1 NA -1 PRAMEF18 HGNC HGNC:30693 protein_coding YES CCDS41258.2 ENSP00000485473 Q5VWM3.103 UPI0004423C16 NM_001099850.2 3/3 Gene3D:3.80.10.10,PIRSF:PIRSF038286,PANTHER:PTHR14224,PANTHER:PTHR14224:SF79 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . TGT . 2551.03 NA NA NA NA NA NA NA NA NA 13223512 PRAMEF18 0 . GRCh38 chr1 13223649 13223649 + Missense_Mutation SNP G G A rs56088861 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1123C>T p.Arg375Cys p.R375C ENST00000624297 3/3 NA NA NA NA NA NA PRAMEF18,missense_variant,p.Arg375Cys,ENST00000624297,NM_001099850.2; A ENSG00000279804 ENST00000624297 Transcript missense_variant 1123/2067 1123/1440 375/479 R/C Cgc/Tgc rs56088861 1 NA -1 PRAMEF18 HGNC HGNC:30693 protein_coding YES CCDS41258.2 ENSP00000485473 Q5VWM3.103 UPI0004423C16 NM_001099850.2 tolerated(0.13) benign(0.102) 3/3 Gene3D:3.80.10.10,PIRSF:PIRSF038286,PANTHER:PTHR14224,PANTHER:PTHR14224:SF79,Superfamily:SSF52047 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CGG . 107.1 NA NA NA NA NA NA NA NA NA 13223649 PRAMEF18 0 . GRCh38 chr1 13223685 13223685 + Missense_Mutation SNP A A C rs56276757 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1087T>G p.Tyr363Asp p.Y363D ENST00000624297 3/3 NA NA NA NA NA NA PRAMEF18,missense_variant,p.Tyr363Asp,ENST00000624297,NM_001099850.2; C ENSG00000279804 ENST00000624297 Transcript missense_variant 1087/2067 1087/1440 363/479 Y/D Tac/Gac rs56276757 1 NA -1 PRAMEF18 HGNC HGNC:30693 protein_coding YES CCDS41258.2 ENSP00000485473 Q5VWM3.103 UPI0004423C16 NM_001099850.2 tolerated(1) benign(0) 3/3 Gene3D:3.80.10.10,PIRSF:PIRSF038286,PANTHER:PTHR14224,PANTHER:PTHR14224:SF79,Superfamily:SSF52047 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . TAC . 166.1 NA NA NA NA NA NA NA NA NA 13223685 PRAMEF18 0 . GRCh38 chr1 13223688 13223688 + Missense_Mutation SNP C C G rs28687701 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1084G>C p.Gly362Arg p.G362R ENST00000624297 3/3 NA NA NA NA NA NA PRAMEF18,missense_variant,p.Gly362Arg,ENST00000624297,NM_001099850.2; G ENSG00000279804 ENST00000624297 Transcript missense_variant 1084/2067 1084/1440 362/479 G/R Ggg/Cgg rs28687701 1 NA -1 PRAMEF18 HGNC HGNC:30693 protein_coding YES CCDS41258.2 ENSP00000485473 Q5VWM3.103 UPI0004423C16 NM_001099850.2 tolerated(0.57) benign(0) 3/3 Gene3D:3.80.10.10,PIRSF:PIRSF038286,PANTHER:PTHR14224,PANTHER:PTHR14224:SF79,Superfamily:SSF52047 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CCA . 166.1 NA NA NA NA NA NA NA NA NA 13223688 PRAMEF18 0 . GRCh38 chr1 13223849 13223849 + Missense_Mutation SNP T T A rs56101354 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.923A>T p.Glu308Val p.E308V ENST00000624297 3/3 NA NA NA NA NA NA PRAMEF18,missense_variant,p.Glu308Val,ENST00000624297,NM_001099850.2; A ENSG00000279804 ENST00000624297 Transcript missense_variant 923/2067 923/1440 308/479 E/V gAg/gTg rs56101354 1 NA -1 PRAMEF18 HGNC HGNC:30693 protein_coding YES CCDS41258.2 ENSP00000485473 Q5VWM3.103 UPI0004423C16 NM_001099850.2 deleterious(0.03) benign(0.145) 3/3 Gene3D:3.80.10.10,PIRSF:PIRSF038286,PANTHER:PTHR14224,PANTHER:PTHR14224:SF79,Superfamily:SSF52047 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CTC . 121.8 NA NA NA NA NA NA NA NA NA 13223849 PRAMEF18 0 . GRCh38 chr1 13223853 13223853 + Missense_Mutation SNP C C T rs2884673 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.919G>A p.Glu307Lys p.E307K ENST00000624297 3/3 NA NA NA NA NA NA PRAMEF18,missense_variant,p.Glu307Lys,ENST00000624297,NM_001099850.2; T ENSG00000279804 ENST00000624297 Transcript missense_variant 919/2067 919/1440 307/479 E/K Gaa/Aaa rs2884673 1 NA -1 PRAMEF18 HGNC HGNC:30693 protein_coding YES CCDS41258.2 ENSP00000485473 Q5VWM3.103 UPI0004423C16 NM_001099850.2 deleterious(0.01) benign(0.048) 3/3 Gene3D:3.80.10.10,PIRSF:PIRSF038286,PANTHER:PTHR14224,PANTHER:PTHR14224:SF79,Superfamily:SSF52047 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . TCT . 121.8 NA NA NA NA NA NA NA NA NA 13223853 PRAMEF18 0 . GRCh38 chr1 13223890 13223890 + Silent SNP C C T rs56066665 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.882G>A p.Pro294= p.P294= ENST00000624297 3/3 NA NA NA NA NA NA PRAMEF18,synonymous_variant,p.Pro294=,ENST00000624297,NM_001099850.2; T ENSG00000279804 ENST00000624297 Transcript synonymous_variant 882/2067 882/1440 294/479 P ccG/ccA rs56066665 1 NA -1 PRAMEF18 HGNC HGNC:30693 protein_coding YES CCDS41258.2 ENSP00000485473 Q5VWM3.103 UPI0004423C16 NM_001099850.2 3/3 Gene3D:3.80.10.10,PIRSF:PIRSF038286,PANTHER:PTHR14224,PANTHER:PTHR14224:SF79,Superfamily:SSF52047 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . ACG . 102.8 NA NA NA NA NA NA NA NA NA 13223890 PRAMEF18 0 . GRCh38 chr1 13225044 13225044 + Missense_Mutation SNP C C G rs879235545 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.677G>C p.Arg226Pro p.R226P ENST00000624297 2/3 NA NA NA NA NA NA PRAMEF18,missense_variant,p.Arg226Pro,ENST00000624297,NM_001099850.2; G ENSG00000279804 ENST00000624297 Transcript missense_variant 677/2067 677/1440 226/479 R/P cGt/cCt rs879235545 1 NA -1 PRAMEF18 HGNC HGNC:30693 protein_coding YES CCDS41258.2 ENSP00000485473 Q5VWM3.103 UPI0004423C16 NM_001099850.2 tolerated(1) benign(0) 2/3 Gene3D:3.80.10.10,PIRSF:PIRSF038286,PANTHER:PTHR14224,PANTHER:PTHR14224:SF79,Superfamily:SSF52047 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . ACG . 2119.6 NA NA NA NA NA NA NA NA NA 13225044 PRAMEF18 0 . GRCh38 chr1 13225208 13225208 + Silent SNP C C G rs1553188582 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.513G>C p.Val171= p.V171= ENST00000624297 2/3 NA NA NA NA NA NA PRAMEF18,synonymous_variant,p.Val171=,ENST00000624297,NM_001099850.2; G ENSG00000279804 ENST00000624297 Transcript synonymous_variant 513/2067 513/1440 171/479 V gtG/gtC rs1553188582 1 NA -1 PRAMEF18 HGNC HGNC:30693 protein_coding YES CCDS41258.2 ENSP00000485473 Q5VWM3.103 UPI0004423C16 NM_001099850.2 2/3 PIRSF:PIRSF038286,PANTHER:PTHR14224,PANTHER:PTHR14224:SF79 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . GCA . 18646.6 NA NA NA NA NA NA NA NA NA 13225208 PRAMEF18 0 . GRCh38 chr1 13225325 13225325 + Silent SNP T T C rs61780077 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.396A>G p.Arg132= p.R132= ENST00000624297 2/3 NA NA NA NA NA NA PRAMEF18,synonymous_variant,p.Arg132=,ENST00000624297,NM_001099850.2; C ENSG00000279804 ENST00000624297 Transcript synonymous_variant 396/2067 396/1440 132/479 R agA/agG rs61780077 1 NA -1 PRAMEF18 HGNC HGNC:30693 protein_coding YES CCDS41258.2 ENSP00000485473 Q5VWM3.103 UPI0004423C16 NM_001099850.2 2/3 PIRSF:PIRSF038286,PANTHER:PTHR14224,PANTHER:PTHR14224:SF79 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . GTC . 10727.6 NA NA NA NA NA NA NA NA NA 13225325 PRAMEF18 0 . GRCh38 chr1 13225408 13225408 + Missense_Mutation SNP T T A rs71279237 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.313A>T p.Met105Leu p.M105L ENST00000624297 2/3 NA NA NA NA NA NA PRAMEF18,missense_variant,p.Met105Leu,ENST00000624297,NM_001099850.2; A ENSG00000279804 ENST00000624297 Transcript missense_variant 313/2067 313/1440 105/479 M/L Atg/Ttg rs71279237 1 NA -1 PRAMEF18 HGNC HGNC:30693 protein_coding YES CCDS41258.2 ENSP00000485473 Q5VWM3.103 UPI0004423C16 NM_001099850.2 tolerated(1) benign(0) 2/3 PIRSF:PIRSF038286,PANTHER:PTHR14224,PANTHER:PTHR14224:SF79 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . ATT . 3937.6 NA NA NA NA NA NA NA NA NA 13225408 PRAMEF18 0 . GRCh38 chr1 13225429 13225429 + Missense_Mutation SNP A A G rs1314428920 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.292T>C p.Trp98Arg p.W98R ENST00000624297 2/3 NA NA NA NA NA NA PRAMEF18,missense_variant,p.Trp98Arg,ENST00000624297,NM_001099850.2; G ENSG00000279804 ENST00000624297 Transcript missense_variant 292/2067 292/1440 98/479 W/R Tgg/Cgg rs1314428920 1 NA -1 PRAMEF18 HGNC HGNC:30693 protein_coding YES CCDS41258.2 ENSP00000485473 Q5VWM3.103 UPI0004423C16 NM_001099850.2 deleterious(0.05) benign(0.154) 2/3 PIRSF:PIRSF038286,PANTHER:PTHR14224,PANTHER:PTHR14224:SF79 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CAC . 1233.6 NA NA NA NA NA NA NA NA NA 13225429 PRAMEF18 0 . GRCh38 chr1 13226025 13226025 + Silent SNP G G A rs878934156 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.82C>T p.Leu28= p.L28= ENST00000624297 1/3 NA NA NA NA NA NA PRAMEF18,synonymous_variant,p.Leu28=,ENST00000624297,NM_001099850.2; A ENSG00000279804 ENST00000624297 Transcript synonymous_variant 82/2067 82/1440 28/479 L Ctg/Ttg rs878934156 1 NA -1 PRAMEF18 HGNC HGNC:30693 protein_coding YES CCDS41258.2 ENSP00000485473 Q5VWM3.103 UPI0004423C16 NM_001099850.2 1/3 PIRSF:PIRSF038286,PANTHER:PTHR14224,PANTHER:PTHR14224:SF79 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . AGG . 18193.6 NA NA NA NA NA NA NA NA NA 13226025 PRAMEF18 0 . GRCh38 chr1 13226028 13226028 + Missense_Mutation SNP C C T rs879015760 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.79G>A p.Val27Ile p.V27I ENST00000624297 1/3 NA NA NA NA NA NA PRAMEF18,missense_variant,p.Val27Ile,ENST00000624297,NM_001099850.2; T ENSG00000279804 ENST00000624297 Transcript missense_variant 79/2067 79/1440 27/479 V/I Gtc/Atc rs879015760 1 NA -1 PRAMEF18 HGNC HGNC:30693 protein_coding YES CCDS41258.2 ENSP00000485473 Q5VWM3.103 UPI0004423C16 NM_001099850.2 tolerated(0.08) benign(0) 1/3 PIRSF:PIRSF038286,PANTHER:PTHR14224,PANTHER:PTHR14224:SF79 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . ACG . 18284.6 NA NA NA NA NA NA NA NA NA 13226028 PRAMEF18 0 . GRCh38 chr1 13226052 13226052 + Missense_Mutation SNP T T C rs1435146586 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.55A>G p.Arg19Gly p.R19G ENST00000624297 1/3 NA NA NA NA NA NA PRAMEF18,missense_variant,p.Arg19Gly,ENST00000624297,NM_001099850.2; C ENSG00000279804 ENST00000624297 Transcript missense_variant 55/2067 55/1440 19/479 R/G Agg/Ggg rs1435146586 1 NA -1 PRAMEF18 HGNC HGNC:30693 protein_coding YES CCDS41258.2 ENSP00000485473 Q5VWM3.103 UPI0004423C16 NM_001099850.2 deleterious(0.03) benign(0.213) 1/3 PIRSF:PIRSF038286,PANTHER:PTHR14224,PANTHER:PTHR14224:SF79 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CTC . 10162.6 NA NA NA NA NA NA NA NA NA 13226052 PRAMEF18 0 . GRCh38 chr1 13226098 13226098 + Missense_Mutation SNP G G T rs1325396426 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.9C>A p.Phe3Leu p.F3L ENST00000624297 1/3 NA NA NA NA NA NA PRAMEF18,missense_variant,p.Phe3Leu,ENST00000624297,NM_001099850.2; T ENSG00000279804 ENST00000624297 Transcript missense_variant 9/2067 9/1440 3/479 F/L ttC/ttA rs1325396426 1 NA -1 PRAMEF18 HGNC HGNC:30693 protein_coding YES CCDS41258.2 ENSP00000485473 Q5VWM3.103 UPI0004423C16 NM_001099850.2 tolerated(0.74) benign(0) 1/3 PIRSF:PIRSF038286,PANTHER:PTHR14224,PANTHER:PTHR14224:SF79 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . GGA . 10435.6 NA NA NA NA NA NA NA NA NA 13226098 PRAMEF18 0 . GRCh38 chr1 13226100 13226100 + Missense_Mutation SNP A A G rs1315638222 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.7T>C p.Phe3Leu p.F3L ENST00000624297 1/3 NA NA NA NA NA NA PRAMEF18,missense_variant,p.Phe3Leu,ENST00000624297,NM_001099850.2; G ENSG00000279804 ENST00000624297 Transcript missense_variant 7/2067 7/1440 3/479 F/L Ttc/Ctc rs1315638222 1 NA -1 PRAMEF18 HGNC HGNC:30693 protein_coding YES CCDS41258.2 ENSP00000485473 Q5VWM3.103 UPI0004423C16 NM_001099850.2 tolerated(0.74) benign(0) 1/3 PIRSF:PIRSF038286,PANTHER:PTHR14224,PANTHER:PTHR14224:SF79 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . AAG . 10448.6 NA NA NA NA NA NA NA NA NA 13226100 PRAMEF8 391002 . GRCh38 chr1 13281372 13281372 + Silent SNP C C T rs1245172335 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1424G>A p.Ter475= p.*475= ENST00000357367 4/4 NA NA NA NA NA NA PRAMEF8,stop_retained_variant,p.Ter475=,ENST00000357367,NM_001012276.3;PRAMEF8,stop_retained_variant,p.Ter475=,ENST00000621519,;PRAMEF8,stop_retained_variant,p.Ter475=,ENST00000614831,;RNU6-771P,upstream_gene_variant,,ENST00000384780,; T ENSG00000182330 ENST00000357367 Transcript stop_retained_variant 1507/1844 1424/1425 475/474 * tGa/tAa rs1245172335 1 NA -1 PRAMEF8 HGNC HGNC:24074 protein_coding YES CCDS72709.1 ENSP00000349931 Q5VWM4.119 UPI000191706C NM_001012276.3 4/4 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . TCA . 57.6 NA NA NA NA NA NA NA NA NA 13281372 PRAMEF8 391002 . GRCh38 chr1 13281482 13281482 + Missense_Mutation SNP G G C rs1553170456 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1314C>G p.Asn438Lys p.N438K ENST00000357367 4/4 NA NA NA NA NA NA PRAMEF8,missense_variant,p.Asn438Lys,ENST00000357367,NM_001012276.3;PRAMEF8,missense_variant,p.Asn438Lys,ENST00000621519,;PRAMEF8,missense_variant,p.Asn438Lys,ENST00000614831,;RNU6-771P,upstream_gene_variant,,ENST00000384780,; C ENSG00000182330 ENST00000357367 Transcript missense_variant 1397/1844 1314/1425 438/474 N/K aaC/aaG rs1553170456 1 NA -1 PRAMEF8 HGNC HGNC:24074 protein_coding YES CCDS72709.1 ENSP00000349931 Q5VWM4.119 UPI000191706C NM_001012276.3 tolerated(0.64) benign(0) 4/4 PIRSF:PIRSF038286,PANTHER:PTHR14224,PANTHER:PTHR14224:SF30 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . TGT . 170.6 NA NA NA NA NA NA NA NA NA 13281482 PRAMEF8 391002 . GRCh38 chr1 13281530 13281530 + Silent SNP T T A rs1553170447 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1266A>T p.Gly422= p.G422= ENST00000357367 4/4 NA NA NA NA NA NA PRAMEF8,synonymous_variant,p.Gly422=,ENST00000357367,NM_001012276.3;PRAMEF8,synonymous_variant,p.Gly422=,ENST00000621519,;PRAMEF8,synonymous_variant,p.Gly422=,ENST00000614831,;RNU6-771P,upstream_gene_variant,,ENST00000384780,; A ENSG00000182330 ENST00000357367 Transcript synonymous_variant 1349/1844 1266/1425 422/474 G ggA/ggT rs1553170447 1 NA -1 PRAMEF8 HGNC HGNC:24074 protein_coding YES CCDS72709.1 ENSP00000349931 Q5VWM4.119 UPI000191706C NM_001012276.3 4/4 PIRSF:PIRSF038286,PANTHER:PTHR14224,PANTHER:PTHR14224:SF30 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . CTC . 195.98 NA NA NA NA NA NA NA NA NA 13281530 PRAMEF8 391002 . GRCh38 chr1 13281806 13281806 + Silent SNP C C T rs1891607 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.990G>A p.Thr330= p.T330= ENST00000357367 4/4 NA NA NA NA NA NA PRAMEF8,synonymous_variant,p.Thr330=,ENST00000357367,NM_001012276.3;PRAMEF8,synonymous_variant,p.Thr330=,ENST00000621519,;PRAMEF8,synonymous_variant,p.Thr330=,ENST00000614831,;RNU6-771P,upstream_gene_variant,,ENST00000384780,; T ENSG00000182330 ENST00000357367 Transcript synonymous_variant 1073/1844 990/1425 330/474 T acG/acA rs1891607 1 NA -1 PRAMEF8 HGNC HGNC:24074 protein_coding YES CCDS72709.1 ENSP00000349931 Q5VWM4.119 UPI000191706C NM_001012276.3 4/4 Gene3D:3.80.10.10,PIRSF:PIRSF038286,PANTHER:PTHR14224,PANTHER:PTHR14224:SF30,Superfamily:SSF52047 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . GCG . 6037.6 NA NA NA NA NA NA NA NA NA 13281806 PRAMEF33 0 . GRCh38 chr1 13306141 13306141 + Missense_Mutation SNP C C A rs1273107118 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.187C>A p.Arg63Ser p.R63S ENST00000437300 2/4 NA NA NA NA NA NA PRAMEF33,missense_variant,p.Arg63Ser,ENST00000437300,NM_001291381.1; A ENSG00000237700 ENST00000437300 Transcript missense_variant 260/1518 187/1425 63/474 R/S Cgc/Agc rs1273107118 1 NA 1 PRAMEF33 HGNC HGNC:49193 protein_coding YES CCDS85928.1 ENSP00000492439 A0A0G2JMD5.32 UPI000442CEFE NM_001291381.1 tolerated(0.57) benign(0.208) 2/4 PIRSF:PIRSF038286,PANTHER:PTHR14224,PANTHER:PTHR14224:SF28 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CCG . 829.6 NA NA NA NA NA NA NA NA NA 13306141 PRAMEF33 0 . GRCh38 chr1 13306172 13306172 + Missense_Mutation SNP C C T rs2637888 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.218C>T p.Pro73Leu p.P73L ENST00000437300 2/4 NA NA NA NA NA NA PRAMEF33,missense_variant,p.Pro73Leu,ENST00000437300,NM_001291381.1; T ENSG00000237700 ENST00000437300 Transcript missense_variant 291/1518 218/1425 73/474 P/L cCt/cTt rs2637888 1 NA 1 PRAMEF33 HGNC HGNC:49193 protein_coding YES CCDS85928.1 ENSP00000492439 A0A0G2JMD5.32 UPI000442CEFE NM_001291381.1 tolerated(0.16) possibly_damaging(0.499) 2/4 PIRSF:PIRSF038286,PANTHER:PTHR14224,PANTHER:PTHR14224:SF28 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CCT . 954.6 NA NA NA NA NA NA NA NA NA 13306172 PRAMEF33 0 . GRCh38 chr1 13306667 13306667 + Missense_Mutation SNP A A G rs1428094803 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.317A>G p.Gln106Arg p.Q106R ENST00000437300 3/4 NA NA NA NA NA NA PRAMEF33,missense_variant,p.Gln106Arg,ENST00000437300,NM_001291381.1; G ENSG00000237700 ENST00000437300 Transcript missense_variant 390/1518 317/1425 106/474 Q/R cAg/cGg rs1428094803 1 NA 1 PRAMEF33 HGNC HGNC:49193 protein_coding YES CCDS85928.1 ENSP00000492439 A0A0G2JMD5.32 UPI000442CEFE NM_001291381.1 tolerated(1) benign(0) 3/4 PIRSF:PIRSF038286,PANTHER:PTHR14224,PANTHER:PTHR14224:SF28 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CAG . 5077.03 NA NA NA NA NA NA NA NA NA 13306667 PRAMEF33 0 . GRCh38 chr1 13307108 13307108 + Nonsense_Mutation SNP G G A rs1343154326 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.758G>A p.Trp253Ter p.W253* ENST00000437300 3/4 NA NA NA NA NA NA PRAMEF33,stop_gained,p.Trp253Ter,ENST00000437300,NM_001291381.1; A ENSG00000237700 ENST00000437300 Transcript stop_gained 831/1518 758/1425 253/474 W/* tGg/tAg rs1343154326 1 NA 1 PRAMEF33 HGNC HGNC:49193 protein_coding YES CCDS85928.1 ENSP00000492439 A0A0G2JMD5.32 UPI000442CEFE NM_001291381.1 3/4 PIRSF:PIRSF038286,PANTHER:PTHR14224,PANTHER:PTHR14224:SF28,Superfamily:SSF52047 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 SNV 1 NA NA NA . TGG . 415.6 NA NA NA NA NA NA NA NA NA 13307108 PRAMEF33 0 . GRCh38 chr1 13308468 13308468 + Missense_Mutation SNP A A C rs1553168311 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1006A>C p.Asn336His p.N336H ENST00000437300 4/4 NA NA NA NA NA NA PRAMEF33,missense_variant,p.Asn336His,ENST00000437300,NM_001291381.1; C ENSG00000237700 ENST00000437300 Transcript missense_variant 1079/1518 1006/1425 336/474 N/H Aat/Cat rs1553168311 1 NA 1 PRAMEF33 HGNC HGNC:49193 protein_coding YES CCDS85928.1 ENSP00000492439 A0A0G2JMD5.32 UPI000442CEFE NM_001291381.1 deleterious(0.05) benign(0.005) 4/4 PIRSF:PIRSF038286,PANTHER:PTHR14224,PANTHER:PTHR14224:SF28,Superfamily:SSF52047 NA 0.798 0.8804 NA 0.9474 0.9235 0.9223 NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CAA . 296 NA NA NA NA NA NA NA NA NA 13308468 PRAMEF33 0 . GRCh38 chr1 13308474 13308474 + Missense_Mutation SNP C C G rs1553168305 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1012C>G p.Gln338Glu p.Q338E ENST00000437300 4/4 NA NA NA NA NA NA PRAMEF33,missense_variant,p.Gln338Glu,ENST00000437300,NM_001291381.1; G ENSG00000237700 ENST00000437300 Transcript missense_variant 1085/1518 1012/1425 338/474 Q/E Cag/Gag rs1553168305 1 NA 1 PRAMEF33 HGNC HGNC:49193 protein_coding YES CCDS85928.1 ENSP00000492439 A0A0G2JMD5.32 UPI000442CEFE NM_001291381.1 tolerated(1) benign(0) 4/4 PIRSF:PIRSF038286,PANTHER:PTHR14224,PANTHER:PTHR14224:SF28,Superfamily:SSF52047 NA 0.8207 0.8602 NA 0.8393 0.8797 0.8425 NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . TCA . 206.92 NA NA NA NA NA NA NA NA NA 13308474 PRAMEF15 653619 . GRCh38 chr1 13318452 13318452 + Silent SNP A A G rs1553166967 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.45A>G p.Ala15= p.A15= ENST00000376152 2/4 NA NA NA NA NA NA PRAMEF15,synonymous_variant,p.Ala15=,ENST00000376152,NM_001098376.3; G ENSG00000204501 ENST00000376152 Transcript synonymous_variant 139/1865 45/1437 15/478 A gcA/gcG rs1553166967 1 NA 1 PRAMEF15 HGNC HGNC:26764 protein_coding YES CCDS44059.1 ENSP00000365322 Q5VWM5.129 UPI0000199BA7 NM_001098376.3 2/4 PIRSF:PIRSF038286,PANTHER:PTHR14224,PANTHER:PTHR14224:SF19 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . CAG . 661.6 NA NA NA NA NA NA NA NA NA 13318452 PRAMEF19 645414 . GRCh38 chr1 13369246 13369246 + Missense_Mutation SNP T T C rs1286207864 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1261A>G p.Asn421Asp p.N421D ENST00000376101 3/3 NA NA NA NA NA NA PRAMEF19,missense_variant,p.Asn421Asp,ENST00000376101,NM_001099790.3;,regulatory_region_variant,,ENSR00000250327,; C ENSG00000204480 ENST00000376101 Transcript missense_variant 1261/1440 1261/1440 421/479 N/D Aac/Gac rs1286207864,COSV101069383 1 NA -1 PRAMEF19 HGNC HGNC:24908 protein_coding YES ENSP00000365269 Q5SWL8.111 UPI000443411D NM_001099790.3 tolerated(0.34) benign(0.003) 3/3 PANTHER:PTHR14224:SF76,PANTHER:PTHR14224,Gene3D:3.80.10.10,PIRSF:PIRSF038286 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 5 NA 0,1 NA NA . TTG . 2052.6 2.67e-05 NA 4.068e-05 NA 7.641e-05 0.0001343 NA NA NA 13369246 PRAMEF19 645414 . GRCh38 chr1 13369384 13369384 + Missense_Mutation SNP G G A rs780798639 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1123C>T p.Arg375Cys p.R375C ENST00000376101 3/3 NA NA NA NA NA NA PRAMEF19,missense_variant,p.Arg375Cys,ENST00000376101,NM_001099790.3;,regulatory_region_variant,,ENSR00000250327,; A ENSG00000204480 ENST00000376101 Transcript missense_variant 1123/1440 1123/1440 375/479 R/C Cgc/Tgc rs780798639 1 NA -1 PRAMEF19 HGNC HGNC:24908 protein_coding YES ENSP00000365269 Q5SWL8.111 UPI000443411D NM_001099790.3 tolerated(0.13) benign(0.015) 3/3 PANTHER:PTHR14224:SF76,PANTHER:PTHR14224,Gene3D:3.80.10.10,PIRSF:PIRSF038286,Superfamily:SSF52047 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . CGG . 2105.6 3.986e-06 6.192e-05 NA NA NA NA NA NA NA 13369384 PRAMEF19 645414 . GRCh38 chr1 13369423 13369423 + Missense_Mutation SNP C C G rs1327551446 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1084G>C p.Gly362Arg p.G362R ENST00000376101 3/3 NA NA NA NA NA NA PRAMEF19,missense_variant,p.Gly362Arg,ENST00000376101,NM_001099790.3; G ENSG00000204480 ENST00000376101 Transcript missense_variant 1084/1440 1084/1440 362/479 G/R Ggg/Cgg rs1327551446 1 NA -1 PRAMEF19 HGNC HGNC:24908 protein_coding YES ENSP00000365269 Q5SWL8.111 UPI000443411D NM_001099790.3 tolerated(0.55) benign(0) 3/3 PANTHER:PTHR14224:SF76,PANTHER:PTHR14224,Gene3D:3.80.10.10,PIRSF:PIRSF038286,Superfamily:SSF52047 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . CCA . 1946.6 NA NA NA NA NA NA NA NA NA 13369423 PRAMEF19 645414 . GRCh38 chr1 13371119 13371119 + Silent SNP T T C rs2743968 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.396A>G p.Arg132= p.R132= ENST00000376101 2/3 NA NA NA NA NA NA PRAMEF19,synonymous_variant,p.Arg132=,ENST00000376101,NM_001099790.3; C ENSG00000204480 ENST00000376101 Transcript synonymous_variant 396/1440 396/1440 132/479 R agA/agG rs2743968,COSV65819406 1 NA -1 PRAMEF19 HGNC HGNC:24908 protein_coding YES ENSP00000365269 Q5SWL8.111 UPI000443411D NM_001099790.3 2/3 PANTHER:PTHR14224:SF76,PANTHER:PTHR14224,PIRSF:PIRSF038286 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA LOW 1 SNV 5 NA 0,1 NA NA . GTC . 1444.6 NA NA NA NA NA NA NA NA NA 13371119 PRAMEF19 645414 . GRCh38 chr1 13371202 13371202 + Missense_Mutation SNP T T A rs2743967 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.313A>T p.Met105Leu p.M105L ENST00000376101 2/3 NA NA NA NA NA NA PRAMEF19,missense_variant,p.Met105Leu,ENST00000376101,NM_001099790.3; A ENSG00000204480 ENST00000376101 Transcript missense_variant 313/1440 313/1440 105/479 M/L Atg/Ttg rs2743967 1 NA -1 PRAMEF19 HGNC HGNC:24908 protein_coding YES ENSP00000365269 Q5SWL8.111 UPI000443411D NM_001099790.3 tolerated(1) benign(0) 2/3 PANTHER:PTHR14224:SF76,PANTHER:PTHR14224,PIRSF:PIRSF038286 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . ATT . 3322.6 NA NA NA NA NA NA NA NA NA 13371202 PRAMEF19 645414 . GRCh38 chr1 13371223 13371223 + Missense_Mutation SNP A A G rs879250200 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.292T>C p.Trp98Arg p.W98R ENST00000376101 2/3 NA NA NA NA NA NA PRAMEF19,missense_variant,p.Trp98Arg,ENST00000376101,NM_001099790.3; G ENSG00000204480 ENST00000376101 Transcript missense_variant 292/1440 292/1440 98/479 W/R Tgg/Cgg rs879250200 1 NA -1 PRAMEF19 HGNC HGNC:24908 protein_coding YES ENSP00000365269 Q5SWL8.111 UPI000443411D NM_001099790.3 deleterious(0.05) benign(0.149) 2/3 PANTHER:PTHR14224:SF76,PANTHER:PTHR14224,PIRSF:PIRSF038286 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . CAC . 515.6 NA NA NA NA NA NA NA NA NA 13371223 PRAMEF19 645414 . GRCh38 chr1 13371759 13371759 + Missense_Mutation SNP A A G rs1175110892 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.142T>C p.Cys48Arg p.C48R ENST00000376101 1/3 NA NA NA NA NA NA PRAMEF19,missense_variant,p.Cys48Arg,ENST00000376101,NM_001099790.3; G ENSG00000204480 ENST00000376101 Transcript missense_variant 142/1440 142/1440 48/479 C/R Tgc/Cgc rs1175110892 1 NA -1 PRAMEF19 HGNC HGNC:24908 protein_coding YES ENSP00000365269 Q5SWL8.111 UPI000443411D NM_001099790.3 tolerated(0.83) benign(0) 1/3 PANTHER:PTHR14224:SF76,PANTHER:PTHR14224,PIRSF:PIRSF038286 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . CAT . 8762.03 NA NA NA NA NA NA NA NA NA 13371759 PRAMEF17 391004 . GRCh38 chr1 13390443 13390443 + Missense_Mutation SNP T T A rs1811632 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.390T>A p.Ser130Arg p.S130R ENST00000376098 2/3 NA NA NA NA NA NA PRAMEF17,missense_variant,p.Ser130Arg,ENST00000376098,NM_001099851.3; A ENSG00000204479 ENST00000376098 Transcript missense_variant 416/1578 390/1425 130/474 S/R agT/agA rs1811632 1 NA 1 PRAMEF17 HGNC HGNC:29485 protein_coding YES CCDS41264.1 ENSP00000365266 Q5VTA0.103 UPI0000458AD3 NM_001099851.3 tolerated(0.51) probably_damaging(0.999) 2/3 PANTHER:PTHR14224:SF2,PANTHER:PTHR14224,PIRSF:PIRSF038286 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . GTA . 6416.6 NA NA NA NA NA NA NA NA NA 13390443 PRAMEF20 645425 . GRCh38 chr1 13416600 13416600 + Silent SNP C C T rs3103692 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.246C>T p.Leu82= p.L82= ENST00000602960 1/3 NA NA NA NA NA NA PRAMEF20,synonymous_variant,p.Leu82=,ENST00000602960,NM_001099852.2; T ENSG00000204478 ENST00000602960 Transcript synonymous_variant 250/1502 246/1428 82/475 L ctC/ctT rs3103692 1 NA 1 PRAMEF20 HGNC HGNC:25224 protein_coding YES CCDS41265.1 ENSP00000473584 Q5VT98.123 UPI0004423C14 NM_001099852.2 1/3 PIRSF:PIRSF038286,PANTHER:PTHR14224,PANTHER:PTHR14224:SF19 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . TCG . 3092.6 NA NA NA NA NA NA NA NA NA 13416600 PRAMEF20 645425 . GRCh38 chr1 13421192 13421192 + Silent SNP C C T rs34262621 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1362C>T p.Thr454= p.T454= ENST00000602960 3/3 NA NA NA NA NA NA PRAMEF20,synonymous_variant,p.Thr454=,ENST00000602960,NM_001099852.2; T ENSG00000204478 ENST00000602960 Transcript synonymous_variant 1366/1502 1362/1428 454/475 T acC/acT rs34262621,COSV57080825,COSV57081085 1 NA 1 PRAMEF20 HGNC HGNC:25224 protein_coding YES CCDS41265.1 ENSP00000473584 Q5VT98.123 UPI0004423C14 NM_001099852.2 3/3 PIRSF:PIRSF038286,PANTHER:PTHR14224,PANTHER:PTHR14224:SF19 NA NA NA NA NA NA NA NA NA 0,1,1 NA NA NA NA LOW 1 SNV 5 NA 0,1,1 NA NA . CCG . 4953.6 NA NA NA NA NA NA NA NA NA 13421192 NBPF1 55672 . GRCh38 chr1 16567289 16567289 + Missense_Mutation SNP C C A rs759122011 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2729G>T p.Cys910Phe p.C910F ENST00000430580 25/29 NA NA NA NA NA NA NBPF1,missense_variant,p.Cys910Phe,ENST00000430580,NM_017940.6;NBPF1,missense_variant,p.Cys910Phe,ENST00000432949,;NBPF1,3_prime_UTR_variant,,ENST00000392963,;,regulatory_region_variant,,ENSR00000348638,;,TF_binding_site_variant,,ENSM00459595649,; A ENSG00000219481 ENST00000430580 Transcript missense_variant 3617/5932 2729/3420 910/1139 C/F tGt/tTt rs759122011,COSV55328777 1 NA -1 NBPF1 HGNC HGNC:26088 protein_coding YES ENSP00000474456 Q3BBV0.103 UPI0000E04FDF NM_017940.6 tolerated(0.31) benign(0.003) 25/29 PROSITE_profiles:PS51316,PANTHER:PTHR14199,PANTHER:PTHR14199:SF35,Pfam:PF06758,SMART:SM01148 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 5 NA 0,1 NA NA . ACA . 95.6 0.0001283 NA 5.8e-05 9.974e-05 NA 4.666e-05 0.0001869 0.0003287 0.0001646 16567289 UBXN10 127733 . GRCh38 chr1 20191193 20191193 + Missense_Mutation SNP T T G novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.632T>G p.Phe211Cys p.F211C ENST00000375099 2/2 NA NA NA NA NA NA UBXN10,missense_variant,p.Phe211Cys,ENST00000375099,NM_152376.5;PLA2G2C,upstream_gene_variant,,ENST00000679259,NM_001316722.3,NM_001367969.2;PLA2G2C,upstream_gene_variant,,ENST00000442226,; G ENSG00000162543 ENST00000375099 Transcript missense_variant 705/5562 632/843 211/280 F/C tTt/tGt 1 NA 1 UBXN10 HGNC HGNC:26354 protein_coding YES CCDS205.1 ENSP00000364240 Q96LJ8.115 UPI000000DBEB NM_152376.5 deleterious(0) probably_damaging(0.999) 2/2 PROSITE_profiles:PS50033,CDD:cd17076,PANTHER:PTHR23322,PANTHER:PTHR23322:SF28,Pfam:PF00789,Gene3D:3.10.20.90,SMART:SM00166,Superfamily:SSF54236 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . TTT . 2446.6 NA NA NA NA NA NA NA NA NA 20191193 FAM43B 163933 . GRCh38 chr1 20553901 20553901 + Missense_Mutation SNP C C G novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.928C>G p.Pro310Ala p.P310A ENST00000332947 1/1 NA NA NA NA NA NA FAM43B,missense_variant,p.Pro310Ala,ENST00000332947,NM_207334.3; G ENSG00000183114 ENST00000332947 Transcript missense_variant 1329/2448 928/990 310/329 P/A Ccg/Gcg 1 NA 1 FAM43B HGNC HGNC:31791 protein_coding YES CCDS209.1 ENSP00000331397 Q6ZT52.116 UPI00001C0D42 NM_207334.3 tolerated_low_confidence(0.33) benign(0.182) 1/1 Low_complexity_(Seg):seg,MobiDB_lite:mobidb-lite,PANTHER:PTHR11232:SF34,PANTHER:PTHR11232 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV NA NA NA NA . GCC . 570.6 NA NA NA NA NA NA NA NA NA 20553901 KIF17 57576 . GRCh38 chr1 20671976 20671976 + Missense_Mutation SNP A A G novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2684T>C p.Ile895Thr p.I895T ENST00000247986 12/15 NA NA NA NA NA NA KIF17,missense_variant,p.Ile895Thr,ENST00000247986,NM_020816.4;KIF17,missense_variant,p.Ile895Thr,ENST00000400463,NM_001122819.3;KIF17,missense_variant,p.Ile795Thr,ENST00000375044,NM_001287212.2;KIF17,non_coding_transcript_exon_variant,,ENST00000490034,;KIF17,non_coding_transcript_exon_variant,,ENST00000477167,;KIF17,non_coding_transcript_exon_variant,,ENST00000462858,;KIF17,non_coding_transcript_exon_variant,,ENST00000498225,;KIF17,downstream_gene_variant,,ENST00000463389,; G ENSG00000117245 ENST00000247986 Transcript missense_variant 2995/3969 2684/3090 895/1029 I/T aTc/aCc 1 NA -1 KIF17 HGNC HGNC:19167 protein_coding YES CCDS213.1 ENSP00000247986 Q9P2E2.164 UPI0000185F1A NM_020816.4 deleterious(0) benign(0.417) 12/15 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . GAT . 2777.6 NA NA NA NA NA NA NA NA NA 20671976 KIF17 57576 . GRCh38 chr1 20717604 20717604 + Missense_Mutation SNP C C T rs1426654302 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.103G>A p.Ala35Thr p.A35T ENST00000247986 1/15 NA NA NA NA NA NA KIF17,missense_variant,p.Ala35Thr,ENST00000247986,NM_020816.4;KIF17,missense_variant,p.Ala35Thr,ENST00000400463,NM_001122819.3;SH2D5,downstream_gene_variant,,ENST00000375031,NM_001103160.2;KIF17,upstream_gene_variant,,ENST00000375044,NM_001287212.2;SH2D5,downstream_gene_variant,,ENST00000444387,NM_001103161.2;SH2D5,downstream_gene_variant,,ENST00000460804,;,regulatory_region_variant,,ENSR00000002652,;,TF_binding_site_variant,,ENSM00195443021,; T ENSG00000117245 ENST00000247986 Transcript missense_variant 414/3969 103/3090 35/1029 A/T Gcc/Acc rs1426654302 1 NA -1 KIF17 HGNC HGNC:19167 protein_coding YES CCDS213.1 ENSP00000247986 Q9P2E2.164 UPI0000185F1A NM_020816.4 deleterious(0.01) benign(0.09) 1/15 Gene3D:3.40.850.10,Pfam:PF00225,PROSITE_profiles:PS50067,PANTHER:PTHR24115,PANTHER:PTHR24115:SF744,SMART:SM00129,Superfamily:SSF52540 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . GCG . 4520.6 NA NA NA NA NA NA NA NA NA 20717604 USP48 84196 . GRCh38 chr1 21706893 21706894 + Frame_Shift_Del DEL AA AA - rs112985732 NA HCI-EC-23 NORMAL AA AA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1974_1975del p.Ser659GlnfsTer9 p.S659Qfs*9 ENST00000529637 16/27 NA NA NA NA NA NA USP48,frameshift_variant,p.Ser659GlnfsTer9,ENST00000529637,;USP48,intron_variant,,ENST00000308271,NM_001350164.2,NM_001350166.2,NM_001350167.2,NM_001350168.2,NM_032236.8;USP48,intron_variant,,ENST00000374732,;USP48,intron_variant,,ENST00000400301,NM_001330394.2;USP48,upstream_gene_variant,,ENST00000464577,;,regulatory_region_variant,,ENSR00000920991,; - ENSG00000090686 ENST00000529637 Transcript frameshift_variant 2008-2009/3228 1974-1975/3144 658-659/1047 FS/FX ttTTcc/ttcc rs112985732 1 NA -1 USP48 HGNC HGNC:18533 protein_coding YES ENSP00000431949 Q86UV5.163 UPI000189A7F4 16/27 PROSITE_profiles:PS51283,PANTHER:PTHR24006,PANTHER:PTHR24006:SF722 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 NA NA NA . GGAAA . 986.03 0.0003243 0.0002564 0.0002073 0.0002678 0.0003752 0.0003908 0.0003643 0.0004545 0.0002006 21706892 C1QA 712 . GRCh38 chr1 22638888 22638888 + Silent SNP T T C rs766456234 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.219T>C p.Pro73= p.P73= ENST00000374642 3/3 NA NA NA NA NA NA C1QA,synonymous_variant,p.Pro73=,ENST00000374642,NM_001347465.2,NM_015991.4;C1QA,synonymous_variant,p.Pro73=,ENST00000402322,NM_001347466.1;C1QA,synonymous_variant,p.Pro73=,ENST00000438241,;C1QC,upstream_gene_variant,,ENST00000374637,NM_001347619.2;C1QC,upstream_gene_variant,,ENST00000374639,NM_001114101.3;C1QC,upstream_gene_variant,,ENST00000374640,NM_172369.5,NM_001347620.2;,regulatory_region_variant,,ENSR00000350353,; C ENSG00000173372 ENST00000374642 Transcript synonymous_variant 301/1091 219/738 73/245 P ccT/ccC rs766456234 1 NA 1 C1QA HGNC HGNC:1241 protein_coding YES CCDS226.1 ENSP00000363773 P02745.212 A0A024RAG6.45 UPI00000012E3 NM_001347465.2,NM_015991.4 3/3 PANTHER:PTHR15427:SF26,PANTHER:PTHR15427,Pfam:PF01391 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . CTG . 3262.6 1.889e-05 NA 0.0001296 NA NA NA NA NA NA 22638888 LYPLA2 11313 . GRCh38 chr1 23794121 23794121 + Silent SNP G G A rs1375211802 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.354G>A p.Leu118= p.L118= ENST00000374514 7/10 NA NA NA NA NA NA LYPLA2,synonymous_variant,p.Leu118=,ENST00000374514,NM_007260.3;LYPLA2,synonymous_variant,p.Leu51=,ENST00000374501,;LYPLA2,synonymous_variant,p.Leu118=,ENST00000374502,;LYPLA2,synonymous_variant,p.Leu118=,ENST00000374503,;LYPLA2,synonymous_variant,p.Leu95=,ENST00000420982,;LYPLA2,intron_variant,,ENST00000374505,;GALE,downstream_gene_variant,,ENST00000374497,NM_000403.4;GALE,downstream_gene_variant,,ENST00000418277,;LYPLA2,downstream_gene_variant,,ENST00000421070,;GALE,downstream_gene_variant,,ENST00000425913,;GALE,downstream_gene_variant,,ENST00000429356,;GALE,downstream_gene_variant,,ENST00000445705,;GALE,downstream_gene_variant,,ENST00000456977,;GALE,downstream_gene_variant,,ENST00000617979,NM_001008216.2,NM_001127621.2;LYPLA2,non_coding_transcript_exon_variant,,ENST00000495365,;LYPLA2,non_coding_transcript_exon_variant,,ENST00000472213,;LYPLA2,non_coding_transcript_exon_variant,,ENST00000492577,;GALE,downstream_gene_variant,,ENST00000459934,;GALE,downstream_gene_variant,,ENST00000466250,;GALE,downstream_gene_variant,,ENST00000467070,;GALE,downstream_gene_variant,,ENST00000467493,;GALE,downstream_gene_variant,,ENST00000469556,;GALE,downstream_gene_variant,,ENST00000470383,;GALE,downstream_gene_variant,,ENST00000470949,;GALE,downstream_gene_variant,,ENST00000481736,;GALE,downstream_gene_variant,,ENST00000486382,; A ENSG00000011009 ENST00000374514 Transcript synonymous_variant 486/1635 354/696 118/231 L ctG/ctA rs1375211802 1 NA 1 LYPLA2 HGNC HGNC:6738 protein_coding YES CCDS241.1 ENSP00000363638 O95372.157 A0A140VJC9.27 UPI0000073F0B NM_007260.3 7/10 Gene3D:3.40.50.1820,PDB-ENSP_mappings:5syn.A,PDB-ENSP_mappings:5syn.B,PDB-ENSP_mappings:5syn.C,PDB-ENSP_mappings:5syn.D,PDB-ENSP_mappings:6bje.A,PDB-ENSP_mappings:6bje.B,Pfam:PF02230,PANTHER:PTHR10655,PANTHER:PTHR10655:SF13,Superfamily:SSF53474 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . TGG . 186.6 4.014e-06 NA NA NA NA NA 8.884e-06 NA NA 23794121 MACO1 55219 . GRCh38 chr1 25448884 25448884 + Frame_Shift_Del DEL T T - rs752439249 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.306del p.Phe102LeufsTer47 p.F102Lfs*47 ENST00000374343 3/11 NA NA NA NA NA NA MACO1,frameshift_variant,p.Phe102LeufsTer47,ENST00000374343,NM_018202.6;MACO1,frameshift_variant,p.Phe102LeufsTer47,ENST00000399766,NM_001282564.1;MACO1,upstream_gene_variant,,ENST00000470035,;MACO1,frameshift_variant,p.Phe102LeufsTer47,ENST00000647928,; - ENSG00000204178 ENST00000374343 Transcript frameshift_variant 501/3940 299/1995 100/664 L/X cTt/ct rs752439249 1 NA 1 MACO1 HGNC HGNC:25572 protein_coding YES CCDS30638.1 ENSP00000363463 Q8N5G2.131 UPI000004A074 NM_018202.6 3/11 PANTHER:PTHR47464:SF3,PANTHER:PTHR47464,Pfam:PF09726 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 7 NA NA . GCTT . 2808.6 1.646e-05 NA 6.151e-05 NA NA NA 9.03e-06 NA 3.42e-05 25448883 MAN1C1 57134 . GRCh38 chr1 25778213 25778213 + Missense_Mutation SNP G G A rs769693980 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1366G>A p.Gly456Arg p.G456R ENST00000374332 9/12 NA NA NA NA NA NA MAN1C1,missense_variant,p.Gly248Arg,ENST00000611903,;MAN1C1,missense_variant,p.Gly456Arg,ENST00000374332,NM_020379.3,NM_001289010.1;MAN1C1,missense_variant,p.Gly276Arg,ENST00000263979,;MAN1C1,missense_variant,p.Gly227Arg,ENST00000374329,;MAN1C1,non_coding_transcript_exon_variant,,ENST00000475314,;MAN1C1,non_coding_transcript_exon_variant,,ENST00000496532,;MAN1C1,upstream_gene_variant,,ENST00000487493,; A ENSG00000117643 ENST00000374332 Transcript missense_variant 1696/4641 1366/1893 456/630 G/R Ggg/Agg rs769693980,COSV56043923 1 NA 1 MAN1C1 HGNC HGNC:19080 protein_coding YES CCDS265.1 ENSP00000363452 Q9NR34.159 UPI000012EABD NM_020379.3,NM_001289010.1 deleterious(0) probably_damaging(0.999) 9/12 Gene3D:1.50.10.10,Pfam:PF01532,Prints:PR00747,PANTHER:PTHR11742,PANTHER:PTHR11742:SF28,Superfamily:SSF48225 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 1 NA 0,1 NA NA . CGG . 6798.6 2.389e-05 NA NA NA NA NA 4.404e-05 NA 3.267e-05 25778213 MTFR1L 56181 . GRCh38 chr1 25829650 25829650 + Missense_Mutation SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.593C>T p.Pro198Leu p.P198L ENST00000374301 6/7 NA NA NA NA NA NA MTFR1L,missense_variant,p.Pro198Leu,ENST00000374301,NM_019557.5;MTFR1L,missense_variant,p.Pro198Leu,ENST00000374300,NM_001099626.1;MTFR1L,missense_variant,p.Pro198Leu,ENST00000374303,NM_001099625.2;MTFR1L,missense_variant,p.Pro186Leu,ENST00000374307,;MTFR1L,missense_variant,p.Pro101Leu,ENST00000524618,;MTFR1L,missense_variant,p.Pro101Leu,ENST00000472643,;MTFR1L,synonymous_variant,p.Leu162=,ENST00000466284,;MTFR1L,synonymous_variant,p.Leu162=,ENST00000474295,NM_001099627.1;MTFR1L,intron_variant,,ENST00000526894,;AUNIP,downstream_gene_variant,,ENST00000374298,NM_024037.3;MTFR1L,downstream_gene_variant,,ENST00000424294,;MTFR1L,downstream_gene_variant,,ENST00000488327,;MTFR1L,downstream_gene_variant,,ENST00000525713,;MTFR1L,downstream_gene_variant,,ENST00000526158,;MTFR1L,downstream_gene_variant,,ENST00000529116,;MTFR1L,downstream_gene_variant,,ENST00000533762,;AUNIP,downstream_gene_variant,,ENST00000538789,NM_001287490.1;AL020996.3,downstream_gene_variant,,ENST00000606617,;MTFR1L,non_coding_transcript_exon_variant,,ENST00000469815,;MTFR1L,non_coding_transcript_exon_variant,,ENST00000531361,;AUNIP,downstream_gene_variant,,ENST00000481602,;MTFR1L,3_prime_UTR_variant,,ENST00000464008,;MTFR1L,non_coding_transcript_exon_variant,,ENST00000497956,;MTFR1L,downstream_gene_variant,,ENST00000478284,;MTFR1L,downstream_gene_variant,,ENST00000528624,;MTFR1L,downstream_gene_variant,,ENST00000530599,; T ENSG00000117640 ENST00000374301 Transcript missense_variant 901/2099 593/879 198/292 P/L cCt/cTt 1 NA 1 MTFR1L HGNC HGNC:28836 protein_coding YES CCDS41284.1 ENSP00000363419 Q9H019.131 A0A0S2Z5H6.21 UPI000006D344 NM_019557.5 tolerated(0.44) possibly_damaging(0.903) 6/7 Pfam:PF05308,PANTHER:PTHR14215,PANTHER:PTHR14215:SF3,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CCT . 5116.6 NA NA NA NA NA NA NA NA NA 25829650 ARID1A 8289 . GRCh38 chr1 26697378 26697378 + Silent SNP C C G NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.975C>G p.Ala325= p.A325= ENST00000324856 1/20 NA NA NA NA NA NA ARID1A,synonymous_variant,p.Ala325=,ENST00000324856,NM_006015.6;ARID1A,synonymous_variant,p.Ala325=,ENST00000457599,NM_139135.4;ARID1A,intron_variant,,ENST00000430799,;ARID1A,intron_variant,,ENST00000637465,;AL512408.1,upstream_gene_variant,,ENST00000569378,;,regulatory_region_variant,,ENSR00000250867,; G ENSG00000117713 ENST00000324856 Transcript synonymous_variant 1364/8595 975/6858 325/2285 A gcC/gcG COSV61370896 1 NA 1 ARID1A HGNC HGNC:11110 protein_coding YES CCDS285.1 ENSP00000320485 O14497.203 UPI0000167B91 NM_006015.6 1/20 PDB-ENSP_mappings:6lth.L,PANTHER:PTHR12656,PANTHER:PTHR12656:SF12,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA 1 NA NA NA NA LOW 1 SNV 1 NA 1 NA 1 . CCG . 57.6 NA NA NA NA NA NA NA NA NA 26697378 ARID1A 8289 . GRCh38 chr1 26731368 26731368 + Missense_Mutation SNP T T C rs1478740282 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1567T>C p.Ser523Pro p.S523P ENST00000324856 3/20 NA NA NA NA NA NA ARID1A,missense_variant,p.Ser523Pro,ENST00000324856,NM_006015.6;ARID1A,missense_variant,p.Ser142Pro,ENST00000636219,;ARID1A,missense_variant,p.Ser140Pro,ENST00000430799,;ARID1A,missense_variant,p.Ser140Pro,ENST00000374152,;ARID1A,missense_variant,p.Ser523Pro,ENST00000457599,NM_139135.4;ARID1A,missense_variant,p.Ser140Pro,ENST00000615191,;ARID1A,missense_variant,p.Ser140Pro,ENST00000637465,;ARID1A,downstream_gene_variant,,ENST00000524572,; C ENSG00000117713 ENST00000324856 Transcript missense_variant 1956/8595 1567/6858 523/2285 S/P Tcc/Ccc rs1478740282,COSV61383813 1 NA 1 ARID1A HGNC HGNC:11110 protein_coding YES CCDS285.1 ENSP00000320485 O14497.203 UPI0000167B91 NM_006015.6 tolerated_low_confidence(0.1) benign(0.001) 3/20 PDB-ENSP_mappings:6lth.L,PANTHER:PTHR12656,PANTHER:PTHR12656:SF12,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 1 NA 0,1 NA 1 . ATC . 1854.6 3.98e-06 NA NA NA NA 4.633e-05 NA NA NA 26731368 ARID1A 8289 . GRCh38 chr1 26762297 26762297 + Frame_Shift_Del DEL G G - NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2402del p.Gly801ValfsTer32 p.G801Vfs*32 ENST00000324856 7/20 NA NA NA NA NA NA ARID1A,frameshift_variant,p.Gly801ValfsTer32,ENST00000324856,NM_006015.6;ARID1A,frameshift_variant,p.Gly420ValfsTer32,ENST00000636219,;ARID1A,frameshift_variant,p.Gly418ValfsTer32,ENST00000430799,;ARID1A,frameshift_variant,p.Gly418ValfsTer32,ENST00000374152,;ARID1A,frameshift_variant,p.Gly801ValfsTer32,ENST00000457599,NM_139135.4;ARID1A,frameshift_variant,p.Gly418ValfsTer32,ENST00000615191,;ARID1A,non_coding_transcript_exon_variant,,ENST00000636958,;ARID1A,upstream_gene_variant,,ENST00000430291,;ARID1A,upstream_gene_variant,,ENST00000636422,; - ENSG00000117713 ENST00000324856 Transcript frameshift_variant 2786/8595 2397/6858 799/2285 Q/X caG/ca COSV61388445 1 NA 1 ARID1A HGNC HGNC:11110 protein_coding YES CCDS285.1 ENSP00000320485 O14497.203 UPI0000167B91 NM_006015.6 7/20 PDB-ENSP_mappings:6lth.L,PANTHER:PTHR12656,PANTHER:PTHR12656:SF12,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA 1 NA NA NA NA HIGH 1 deletion 1 5 1 NA 1 . CAGG . 3355.6 NA NA NA NA NA NA NA NA NA 26762296 ARID1A 8289 . GRCh38 chr1 26780106 26780106 + Nonsense_Mutation SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.6208C>T p.Gln2070Ter p.Q2070* ENST00000324856 20/20 NA NA NA NA NA NA ARID1A,stop_gained,p.Gln2070Ter,ENST00000324856,NM_006015.6;ARID1A,stop_gained,p.Gln1688Ter,ENST00000636219,;ARID1A,stop_gained,p.Gln1686Ter,ENST00000430799,;ARID1A,stop_gained,p.Gln1687Ter,ENST00000374152,;ARID1A,stop_gained,p.Gln1853Ter,ENST00000457599,NM_139135.4;ARID1A,3_prime_UTR_variant,,ENST00000466382,;ARID1A,3_prime_UTR_variant,,ENST00000532781,;ARID1A,non_coding_transcript_exon_variant,,ENST00000637788,; T ENSG00000117713 ENST00000324856 Transcript stop_gained 6597/8595 6208/6858 2070/2285 Q/* Cag/Tag 1 NA 1 ARID1A HGNC HGNC:11110 protein_coding YES CCDS285.1 ENSP00000320485 O14497.203 UPI0000167B91 NM_006015.6 20/20 Gene3D:1.25.10.10,PDB-ENSP_mappings:6lth.L,PDB-ENSP_mappings:6ltj.L,Pfam:PF12031,PANTHER:PTHR12656,PANTHER:PTHR12656:SF12 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 SNV 1 NA NA 1 . GCA . 5452.6 NA NA NA NA NA NA NA NA NA 26780106 WDTC1 23038 . GRCh38 chr1 27294617 27294617 + Frame_Shift_Del DEL G G - rs747972901 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.868del p.Glu290AsnfsTer8 p.E290Nfs*8 ENST00000319394 9/16 NA NA NA NA NA NA WDTC1,frameshift_variant,p.Glu290AsnfsTer8,ENST00000319394,NM_001276252.2;WDTC1,frameshift_variant,p.Glu290AsnfsTer8,ENST00000361771,NM_015023.5;WDTC1,frameshift_variant,p.Glu290AsnfsTer8,ENST00000447062,;WDTC1,non_coding_transcript_exon_variant,,ENST00000491239,; - ENSG00000142784 ENST00000319394 Transcript frameshift_variant 1280/4706 861/2034 287/677 M/X atG/at rs747972901,COSV60089251 1 NA 1 WDTC1 HGNC HGNC:29175 protein_coding YES CCDS60044.1 ENSP00000317971 Q8N5D0.167 UPI000004814E NM_001276252.2 9/16 PANTHER:PTHR15574,PANTHER:PTHR15574:SF40,Superfamily:SSF50978 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA HIGH 1 deletion 1 7 0,1 NA NA . ATGG . 7186.06 NA NA NA NA NA NA NA NA NA 27294616 RAB42 115273 . GRCh38 chr1 28592620 28592625 + In_Frame_Del DEL CCGGAG CCGGAG - novel NA HCI-EC-23 NORMAL CCGGAG CCGGAG NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.117_122del p.Glu44_Pro45del p.E44_P45del ENST00000465518 1/2 NA NA NA NA NA NA RAB42,inframe_deletion,p.Glu44_Pro45del,ENST00000465518,NM_001193532.2;RAB42,intron_variant,,ENST00000373826,NM_152304.3;TAF12,intron_variant,,ENST00000471683,;,regulatory_region_variant,,ENSR00000003888,; - ENSG00000188060 ENST00000465518 Transcript inframe_deletion 126-131/857 109-114/657 37-38/218 PE/- CCGGAG/- 1 NA 1 RAB42 HGNC HGNC:28702 protein_coding YES CCDS85943.1 ENSP00000491546 Q8N4Z0.140 UPI0001DD37FF NM_001193532.2 1/2 Low_complexity_(Seg):seg,PROSITE_profiles:PS51419,PANTHER:PTHR24073:SF476,PANTHER:PTHR24073,Pfam:PF00071,TIGRFAM:TIGR00231,Gene3D:3.40.50.300,SMART:SM00175,SMART:SM00176,SMART:SM00174,SMART:SM00173,Superfamily:SSF52540 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 deletion 2 8 NA NA . CCCCGGAGC . 780.6 NA NA NA NA NA NA NA NA NA 28592619 TMEM39B 55116 . GRCh38 chr1 32077193 32077193 + Silent SNP T T C rs1012050500 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.465T>C p.Phe155= p.F155= ENST00000336294 5/9 NA NA NA NA NA NA TMEM39B,synonymous_variant,p.Phe155=,ENST00000336294,NM_001319677.1,NM_018056.4,NM_001319678.2,NM_001319679.2;TMEM39B,synonymous_variant,p.Phe127=,ENST00000438825,;AL445248.1,upstream_gene_variant,,ENST00000366152,;TMEM39B,non_coding_transcript_exon_variant,,ENST00000487305,;TMEM39B,non_coding_transcript_exon_variant,,ENST00000476968,;TMEM39B,non_coding_transcript_exon_variant,,ENST00000468135,;TMEM39B,non_coding_transcript_exon_variant,,ENST00000472503,;TMEM39B,non_coding_transcript_exon_variant,,ENST00000498613,;TMEM39B,non_coding_transcript_exon_variant,,ENST00000466321,;TMEM39B,intron_variant,,ENST00000441402,; C ENSG00000121775 ENST00000336294 Transcript synonymous_variant 574/1778 465/1479 155/492 F ttT/ttC rs1012050500 1 NA 1 TMEM39B HGNC HGNC:25510 protein_coding YES CCDS351.2 ENSP00000338165 Q9GZU3.131 UPI0000037B9F NM_001319677.1,NM_018056.4,NM_001319678.2,NM_001319679.2 5/9 Pfam:PF10271,PANTHER:PTHR12995,PANTHER:PTHR12995:SF2,Transmembrane_helices:TMhelix NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . TTC . 70.6 3.977e-06 6.152e-05 NA NA NA NA NA NA NA 32077193 TMEM39B 55116 . GRCh38 chr1 32077217 32077217 + Silent SNP T T C novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.489T>C p.Thr163= p.T163= ENST00000336294 5/9 NA NA NA NA NA NA TMEM39B,synonymous_variant,p.Thr163=,ENST00000336294,NM_001319677.1,NM_018056.4,NM_001319678.2,NM_001319679.2;TMEM39B,synonymous_variant,p.Thr135=,ENST00000438825,;AL445248.1,upstream_gene_variant,,ENST00000366152,;TMEM39B,non_coding_transcript_exon_variant,,ENST00000487305,;TMEM39B,non_coding_transcript_exon_variant,,ENST00000476968,;TMEM39B,non_coding_transcript_exon_variant,,ENST00000468135,;TMEM39B,non_coding_transcript_exon_variant,,ENST00000472503,;TMEM39B,non_coding_transcript_exon_variant,,ENST00000498613,;TMEM39B,non_coding_transcript_exon_variant,,ENST00000466321,;TMEM39B,intron_variant,,ENST00000441402,; C ENSG00000121775 ENST00000336294 Transcript synonymous_variant 598/1778 489/1479 163/492 T acT/acC 1 NA 1 TMEM39B HGNC HGNC:25510 protein_coding YES CCDS351.2 ENSP00000338165 Q9GZU3.131 UPI0000037B9F NM_001319677.1,NM_018056.4,NM_001319678.2,NM_001319679.2 5/9 Pfam:PF10271,PANTHER:PTHR12995,PANTHER:PTHR12995:SF2,Transmembrane_helices:TMhelix NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . CTC . 57.6 NA NA NA NA NA NA NA NA NA 32077217 RNF19B 127544 . GRCh38 chr1 32964501 32964501 + Missense_Mutation SNP T T G rs113840389 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.185A>C p.Gln62Pro p.Q62P ENST00000373456 1/9 NA NA NA NA NA NA RNF19B,missense_variant,p.Gln62Pro,ENST00000235150,NM_001300826.2;RNF19B,missense_variant,p.Gln62Pro,ENST00000356990,NM_001127361.3;RNF19B,missense_variant,p.Gln62Pro,ENST00000373456,NM_153341.4;,regulatory_region_variant,,ENSR00000004437,; G ENSG00000116514 ENST00000373456 Transcript missense_variant 185/2560 185/2199 62/732 Q/P cAg/cCg rs113840389 1 NA -1 RNF19B HGNC HGNC:26886 protein_coding YES CCDS372.2 ENSP00000362555 Q6ZMZ0.151 UPI00015D777B NM_153341.4 tolerated_low_confidence(0.28) benign(0) 1/9 Low_complexity_(Seg):seg,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite,PANTHER:PTHR11685,PANTHER:PTHR11685:SF109 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CTG . 356.02 NA NA NA NA NA NA NA NA NA 32964501 AK2 204 . GRCh38 chr1 33013271 33013271 + Silent SNP G G A rs746330303 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.630C>T p.Ile210= p.I210= ENST00000672715 6/6 NA NA NA NA NA NA AK2,synonymous_variant,p.Ile210=,ENST00000672715,NM_001625.4,NM_001319140.1;AK2,synonymous_variant,p.Ile168=,ENST00000354858,;AK2,synonymous_variant,p.Ile210=,ENST00000373449,NM_001199199.2,NM_013411.5,NM_001319139.2;AK2,synonymous_variant,p.Ile168=,ENST00000548033,NM_001319142.2;AK2,synonymous_variant,p.Ile210=,ENST00000467905,NM_001319141.2;AK2,3_prime_UTR_variant,,ENST00000629371,;AK2,3_prime_UTR_variant,,ENST00000480134,NM_001319143.1;AK2,downstream_gene_variant,,ENST00000673291,;AL020995.1,intron_variant,,ENST00000427524,;AK2,non_coding_transcript_exon_variant,,ENST00000491241,;AK2,3_prime_UTR_variant,,ENST00000550338,;AK2,non_coding_transcript_exon_variant,,ENST00000672308,;AK2,downstream_gene_variant,,ENST00000466029,;AK2,downstream_gene_variant,,ENST00000469238,;AK2,upstream_gene_variant,,ENST00000482191,; A ENSG00000004455 ENST00000672715 Transcript synonymous_variant 685/5970 630/720 210/239 I atC/atT rs746330303,COSV61467572 1 NA -1 AK2 HGNC HGNC:362 protein_coding YES CCDS374.1 ENSP00000499935 P54819.203 A0A140VK93.24 UPI000016781E NM_001625.4,NM_001319140.1 6/6 HAMAP:MF_00235,HAMAP:MF_03168,CDD:cd01428,PANTHER:PTHR23359,PANTHER:PTHR23359:SF170,Gene3D:3.40.50.300,TIGRFAM:TIGR01351,Superfamily:SSF52540 NA NA NA NA NA NA NA NA NA likely_benign 0,1 NA NA NA NA LOW NA SNV NA NA 1,1 NA 1 . CGA . 152.6 1.996e-05 NA NA NA NA 0.000185 8.831e-06 NA NA 33013271 AK2 204 . GRCh38 chr1 33013277 33013277 + Silent SNP G G A rs779366586 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.624C>T p.Ser208= p.S208= ENST00000672715 6/6 NA NA NA NA NA NA AK2,synonymous_variant,p.Ser208=,ENST00000672715,NM_001625.4,NM_001319140.1;AK2,synonymous_variant,p.Ser166=,ENST00000354858,;AK2,synonymous_variant,p.Ser208=,ENST00000373449,NM_001199199.2,NM_013411.5,NM_001319139.2;AK2,synonymous_variant,p.Ser166=,ENST00000548033,NM_001319142.2;AK2,synonymous_variant,p.Ser208=,ENST00000467905,NM_001319141.2;AK2,3_prime_UTR_variant,,ENST00000629371,;AK2,3_prime_UTR_variant,,ENST00000480134,NM_001319143.1;AK2,downstream_gene_variant,,ENST00000673291,;AL020995.1,intron_variant,,ENST00000427524,;AK2,non_coding_transcript_exon_variant,,ENST00000491241,;AK2,3_prime_UTR_variant,,ENST00000550338,;AK2,non_coding_transcript_exon_variant,,ENST00000672308,;AK2,downstream_gene_variant,,ENST00000466029,;AK2,downstream_gene_variant,,ENST00000469238,;AK2,upstream_gene_variant,,ENST00000482191,; A ENSG00000004455 ENST00000672715 Transcript synonymous_variant 679/5970 624/720 208/239 S tcC/tcT rs779366586 1 NA -1 AK2 HGNC HGNC:362 protein_coding YES CCDS374.1 ENSP00000499935 P54819.203 A0A140VK93.24 UPI000016781E NM_001625.4,NM_001319140.1 6/6 HAMAP:MF_00235,HAMAP:MF_03168,CDD:cd01428,PANTHER:PTHR23359,PANTHER:PTHR23359:SF170,Gene3D:3.40.50.300,TIGRFAM:TIGR01351,Superfamily:SSF52540 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW NA SNV NA NA NA 1 . CGG . 101.6 1.597e-05 6.289e-05 2.892e-05 NA NA NA 8.829e-06 0.0001633 NA 33013277 AK2 204 . GRCh38 chr1 33013287 33013287 + Missense_Mutation SNP C C T rs202182972 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.614G>A p.Gly205Glu p.G205E ENST00000672715 6/6 NA NA NA NA NA NA AK2,missense_variant,p.Gly205Glu,ENST00000672715,NM_001625.4,NM_001319140.1;AK2,missense_variant,p.Gly163Glu,ENST00000354858,;AK2,missense_variant,p.Gly205Glu,ENST00000373449,NM_001199199.2,NM_013411.5,NM_001319139.2;AK2,missense_variant,p.Gly163Glu,ENST00000548033,NM_001319142.2;AK2,missense_variant,p.Gly205Glu,ENST00000467905,NM_001319141.2;AK2,3_prime_UTR_variant,,ENST00000629371,;AK2,3_prime_UTR_variant,,ENST00000480134,NM_001319143.1;AK2,downstream_gene_variant,,ENST00000673291,;AL020995.1,intron_variant,,ENST00000427524,;AK2,non_coding_transcript_exon_variant,,ENST00000491241,;AK2,3_prime_UTR_variant,,ENST00000550338,;AK2,non_coding_transcript_exon_variant,,ENST00000672308,;AK2,downstream_gene_variant,,ENST00000466029,;AK2,downstream_gene_variant,,ENST00000469238,;AK2,upstream_gene_variant,,ENST00000482191,; T ENSG00000004455 ENST00000672715 Transcript missense_variant 669/5970 614/720 205/239 G/E gGg/gAg rs202182972 1 NA -1 AK2 HGNC HGNC:362 protein_coding YES CCDS374.1 ENSP00000499935 P54819.203 A0A140VK93.24 UPI000016781E NM_001625.4,NM_001319140.1 deleterious(0.02) possibly_damaging(0.905) 6/6 HAMAP:MF_00235,HAMAP:MF_03168,CDD:cd01428,PANTHER:PTHR23359,PANTHER:PTHR23359:SF170,Pfam:PF00406,Gene3D:3.40.50.300,TIGRFAM:TIGR01351,Superfamily:SSF52540,Prints:PR00094 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE NA SNV NA NA NA 1 . CCC . 92.6 1.2e-05 NA 5.79e-05 NA NA NA 8.846e-06 NA NA 33013287 CSMD2 114784 . GRCh38 chr1 33605318 33605318 + Missense_Mutation SNP T T C novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.6496A>G p.Asn2166Asp p.N2166D ENST00000373381 42/71 NA NA NA NA NA NA CSMD2,missense_variant,p.Asn2166Asp,ENST00000373381,NM_001281956.2;CSMD2,missense_variant,p.Asn2126Asp,ENST00000619121,;CSMD2,missense_variant,p.Asn2168Asp,ENST00000373388,NM_052896.4;CSMD2,missense_variant,p.Asn1039Asp,ENST00000373380,;CSMD2,missense_variant,p.Asn265Asp,ENST00000373377,;CSMD2,upstream_gene_variant,,ENST00000489419,;CSMD2,missense_variant,p.Asn2168Asp,ENST00000241312,; C ENSG00000121904 ENST00000373381 Transcript missense_variant 6673/13698 6496/10896 2166/3631 N/D Aac/Gac 1 NA -1 CSMD2 HGNC HGNC:19290 protein_coding YES CCDS60082.1 ENSP00000362479 Q7Z408.146 UPI0000578D0B NM_001281956.2 tolerated(0.06) benign(0.044) 42/71 Gene3D:2.10.70.10,Pfam:PF00084,PROSITE_profiles:PS50923,PANTHER:PTHR45656,PANTHER:PTHR45656:SF6,SMART:SM00032,Superfamily:SSF57535,CDD:cd00033 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . TTG . 3197.6 NA NA NA NA NA NA NA NA NA 33605318 CSMD2 114784 . GRCh38 chr1 33714738 33714738 + Silent SNP T T C NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3255A>G p.Pro1085= p.P1085= ENST00000373381 21/71 NA NA NA NA NA NA CSMD2,synonymous_variant,p.Pro1085=,ENST00000373381,NM_001281956.2;CSMD2,synonymous_variant,p.Pro1045=,ENST00000619121,;CSMD2,synonymous_variant,p.Pro1045=,ENST00000373388,NM_052896.4;CSMD2,synonymous_variant,p.Pro1045=,ENST00000241312,; C ENSG00000121904 ENST00000373381 Transcript synonymous_variant 3432/13698 3255/10896 1085/3631 P ccA/ccG COSV53947500 1 NA -1 CSMD2 HGNC HGNC:19290 protein_coding YES CCDS60082.1 ENSP00000362479 Q7Z408.146 UPI0000578D0B NM_001281956.2 21/71 Gene3D:2.10.70.10,Pfam:PF00084,PROSITE_profiles:PS50923,PANTHER:PTHR45656,PANTHER:PTHR45656:SF6,SMART:SM00032,Superfamily:SSF57535,CDD:cd00033 NA NA NA NA NA NA NA NA NA 1 NA NA NA NA LOW 1 SNV 1 NA 1 NA NA . CTG . 4328.6 NA NA NA NA NA NA NA NA NA 33714738 DLGAP3 58512 . GRCh38 chr1 34900245 34900245 + Missense_Mutation SNP G G T novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1136C>A p.Pro379His p.P379H ENST00000373347 4/12 NA NA NA NA NA NA DLGAP3,missense_variant,p.Pro379His,ENST00000373347,NM_001080418.3;DLGAP3,missense_variant,p.Pro379His,ENST00000235180,;DLGAP3,downstream_gene_variant,,ENST00000495979,; T ENSG00000116544 ENST00000373347 Transcript missense_variant 1470/3921 1136/2940 379/979 P/H cCc/cAc 1 NA -1 DLGAP3 HGNC HGNC:30368 protein_coding YES CCDS30670.1 ENSP00000362444 O95886.136 UPI00003D4D81 NM_001080418.3 deleterious(0) possibly_damaging(0.647) 4/12 PANTHER:PTHR12353,PANTHER:PTHR12353:SF4 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . GGG . 1530.6 NA NA NA NA NA NA NA NA NA 34900245 AGO4 192670 . GRCh38 chr1 35834168 35834168 + Missense_Mutation SNP G G T NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1558G>T p.Val520Leu p.V520L ENST00000373210 12/18 NA NA NA NA NA NA AGO4,missense_variant,p.Val520Leu,ENST00000373210,NM_017629.4;,regulatory_region_variant,,ENSR00000004713,; T ENSG00000134698 ENST00000373210 Transcript missense_variant 1959/7272 1558/2586 520/861 V/L Gta/Tta COSV100942793 1 NA 1 AGO4 HGNC HGNC:18424 protein_coding YES CCDS397.1 ENSP00000362306 Q9HCK5.150 UPI00001684D9 NM_017629.4 tolerated(0.35) benign(0.011) 12/18 PDB-ENSP_mappings:6oon.A,HAMAP:MF_03033,PROSITE_profiles:PS50822,CDD:cd04657,PANTHER:PTHR22891,PANTHER:PTHR22891:SF26,Gene3D:3.40.50.2300,Pfam:PF02171,SMART:SM00950,Superfamily:SSF53098 NA NA NA NA NA NA NA NA NA 1 NA NA NA NA MODERATE 1 SNV 1 NA 1 NA NA . AGT . 2500.6 NA NA NA NA NA NA NA NA NA 35834168 AGO3 192669 . GRCh38 chr1 35973501 35973501 + Silent SNP T T A novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.648T>A p.Leu216= p.L216= ENST00000373191 5/19 NA NA NA NA NA NA AGO3,synonymous_variant,p.Leu216=,ENST00000373191,NM_024852.4;AGO3,synonymous_variant,p.Leu216=,ENST00000324350,;AGO3,synonymous_variant,p.Leu216=,ENST00000397828,;AGO3,intron_variant,,ENST00000246314,NM_177422.3;AGO3,3_prime_UTR_variant,,ENST00000634486,;AGO3,non_coding_transcript_exon_variant,,ENST00000491443,; A ENSG00000126070 ENST00000373191 Transcript synonymous_variant 970/19660 648/2583 216/860 L ctT/ctA 1 NA 1 AGO3 HGNC HGNC:18421 protein_coding YES CCDS399.1 ENSP00000362287 Q9H9G7.148 UPI0000141361 NM_024852.4 5/19 PDB-ENSP_mappings:5vm9.A,PDB-ENSP_mappings:5vm9.C,SMART:SM01163,Pfam:PF08699,PANTHER:PTHR22891:SF3,PANTHER:PTHR22891,HAMAP:MF_03032 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 2 NA NA NA . TTA . 42.6 NA NA NA NA NA NA NA NA NA 35973501 AGO3 192669 . GRCh38 chr1 35973507 35973507 + Silent SNP C C T rs772943203 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.654C>T p.Ile218= p.I218= ENST00000373191 5/19 NA NA NA NA NA NA AGO3,synonymous_variant,p.Ile218=,ENST00000373191,NM_024852.4;AGO3,synonymous_variant,p.Ile218=,ENST00000324350,;AGO3,synonymous_variant,p.Ile218=,ENST00000397828,;AGO3,intron_variant,,ENST00000246314,NM_177422.3;AGO3,3_prime_UTR_variant,,ENST00000634486,;AGO3,non_coding_transcript_exon_variant,,ENST00000491443,; T ENSG00000126070 ENST00000373191 Transcript synonymous_variant 976/19660 654/2583 218/860 I atC/atT rs772943203,COSV55791396 1 NA 1 AGO3 HGNC HGNC:18421 protein_coding YES CCDS399.1 ENSP00000362287 Q9H9G7.148 UPI0000141361 NM_024852.4 5/19 PDB-ENSP_mappings:5vm9.A,PDB-ENSP_mappings:5vm9.C,SMART:SM01163,Pfam:PF08699,PANTHER:PTHR22891:SF3,PANTHER:PTHR22891,HAMAP:MF_03032 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA LOW 1 SNV 2 NA 0,1 NA NA . TCG . 60.6 2.921e-05 0.000129 NA NA NA NA 3.653e-05 NA 3.462e-05 35973507 MACF1 23499 . GRCh38 chr1 39315538 39315538 + Missense_Mutation SNP T T C novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3407T>C p.Leu1136Ser p.L1136S ENST00000567887 27/101 NA NA NA NA NA NA MACF1,missense_variant,p.Leu1099Ser,ENST00000564288,;MACF1,missense_variant,p.Leu1136Ser,ENST00000567887,;MACF1,missense_variant,p.Leu1104Ser,ENST00000372915,;MACF1,missense_variant,p.Leu1104Ser,ENST00000361689,NM_012090.5;MACF1,missense_variant,p.Leu1053Ser,ENST00000671089,;MACF1,missense_variant,p.Leu238Ser,ENST00000372925,;MACF1,missense_variant,p.Leu1048Ser,ENST00000672812,;MACF1,missense_variant,p.Leu1253Ser,ENST00000530262,;MACF1,missense_variant,p.Leu1062Ser,ENST00000524432,;MACF1,missense_variant,p.Leu637Ser,ENST00000673706,;MACF1,non_coding_transcript_exon_variant,,ENST00000476350,;MACF1,3_prime_UTR_variant,,ENST00000496804,; C ENSG00000127603 ENST00000567887 Transcript missense_variant 3564/24319 3407/22779 1136/7592 L/S tTg/tCg 1 NA 1 MACF1 HGNC HGNC:13664 protein_coding YES ENSP00000455823 H3BQK9.71 UPI0002467515 deleterious(0) probably_damaging(0.998) 27/101 Gene3D:1.20.58.1940,PANTHER:PTHR23169,PANTHER:PTHR23169:SF24 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA 1 . TTG . 198.6 NA NA NA NA NA NA NA NA NA 39315538 PABPC4 8761 . GRCh38 chr1 39565136 39565136 + Silent SNP C C A NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1215G>T p.Ala405= p.A405= ENST00000372858 8/16 NA NA NA NA NA NA PABPC4,synonymous_variant,p.Ala405=,ENST00000372858,NM_001135653.2;PABPC4,synonymous_variant,p.Ala405=,ENST00000372857,NM_003819.4;PABPC4,synonymous_variant,p.Ala405=,ENST00000372856,NM_001135654.2;PABPC4,synonymous_variant,p.Ala405=,ENST00000372862,;PABPC4,synonymous_variant,p.Ala359=,ENST00000677006,;PABPC4,synonymous_variant,p.Ala380=,ENST00000677609,;PABPC4,synonymous_variant,p.Ala334=,ENST00000678625,;PABPC4,synonymous_variant,p.Ala307=,ENST00000421687,;PABPC4,synonymous_variant,p.Ala115=,ENST00000676859,;PABPC4,synonymous_variant,p.Ala131=,ENST00000527718,;PABPC4,upstream_gene_variant,,ENST00000437136,;PABPC4,downstream_gene_variant,,ENST00000474378,;PABPC4,upstream_gene_variant,,ENST00000530186,;PABPC4-AS1,non_coding_transcript_exon_variant,,ENST00000415255,;PABPC4-AS1,non_coding_transcript_exon_variant,,ENST00000650144,;SNORA55,downstream_gene_variant,,ENST00000364587,;PABPC4,downstream_gene_variant,,ENST00000529216,;PABPC4,coding_sequence_variant,p.Ter1=,ENST00000678469,;PABPC4,3_prime_UTR_variant,,ENST00000470443,;PABPC4,non_coding_transcript_exon_variant,,ENST00000677548,;PABPC4,non_coding_transcript_exon_variant,,ENST00000678894,;PABPC4,non_coding_transcript_exon_variant,,ENST00000678980,;PABPC4,non_coding_transcript_exon_variant,,ENST00000676863,;PABPC4,non_coding_transcript_exon_variant,,ENST00000677244,;PABPC4,non_coding_transcript_exon_variant,,ENST00000679246,;PABPC4,non_coding_transcript_exon_variant,,ENST00000678287,;PABPC4,non_coding_transcript_exon_variant,,ENST00000676523,;PABPC4,non_coding_transcript_exon_variant,,ENST00000677860,;PABPC4,non_coding_transcript_exon_variant,,ENST00000525045,;PABPC4,non_coding_transcript_exon_variant,,ENST00000525669,;PABPC4,non_coding_transcript_exon_variant,,ENST00000483770,;PABPC4,upstream_gene_variant,,ENST00000461578,;PABPC4,upstream_gene_variant,,ENST00000468476,;PABPC4,upstream_gene_variant,,ENST00000477556,;PABPC4,upstream_gene_variant,,ENST00000482028,;PABPC4,upstream_gene_variant,,ENST00000484555,;PABPC4,upstream_gene_variant,,ENST00000492468,;PABPC4,downstream_gene_variant,,ENST00000492519,;PABPC4,downstream_gene_variant,,ENST00000513632,;PABPC4,downstream_gene_variant,,ENST00000525751,;PABPC4,downstream_gene_variant,,ENST00000677644,;PABPC4,upstream_gene_variant,,ENST00000677708,;PABPC4,upstream_gene_variant,,ENST00000678028,; A ENSG00000090621 ENST00000372858 Transcript synonymous_variant 2054/3142 1215/1983 405/660 A gcG/gcT COSV100790875 1 NA -1 PABPC4 HGNC HGNC:8557 protein_coding YES CCDS44115.1 ENSP00000361949 Q13310.203 UPI00002057C5 NM_001135653.2 8/16 PANTHER:PTHR24012,PANTHER:PTHR24012:SF409,TIGRFAM:TIGR01628 NA NA NA NA NA NA NA NA NA 1 NA NA NA NA LOW 1 SNV 1 NA 1 NA NA . CCG . 34.6 NA NA NA NA NA NA NA NA NA 39565136 EXO5 64789 . GRCh38 chr1 40515034 40515034 + Missense_Mutation SNP A A G novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.490A>G p.Arg164Gly p.R164G ENST00000372703 2/2 NA NA NA NA NA NA EXO5,missense_variant,p.Arg164Gly,ENST00000372703,NM_001346946.1,NM_001346955.1,NM_001346954.1,NM_001346956.1,NM_001346948.1;EXO5,missense_variant,p.Arg164Gly,ENST00000296380,NM_001346951.1,NM_001346952.1,NM_022774.2;EXO5,missense_variant,p.Arg164Gly,ENST00000358527,NM_001346953.1,NM_001346947.1,NM_001346950.1,NM_001346949.1;EXO5,missense_variant,p.Arg164Gly,ENST00000443729,;EXO5,missense_variant,p.Arg164Gly,ENST00000420209,;EXO5,missense_variant,p.Arg164Gly,ENST00000419161,;EXO5,missense_variant,p.Arg164Gly,ENST00000418186,;EXO5,downstream_gene_variant,,ENST00000415550,;EXO5,downstream_gene_variant,,ENST00000432259,;AL603839.1,non_coding_transcript_exon_variant,,ENST00000453437,;AL603839.2,downstream_gene_variant,,ENST00000437060,;EXO5,downstream_gene_variant,,ENST00000471429,; G ENSG00000164002 ENST00000372703 Transcript missense_variant 1564/2567 490/1122 164/373 R/G Aga/Gga 1 NA 1 EXO5 HGNC HGNC:26115 protein_coding YES CCDS453.1 ENSP00000361788 Q9H790.119 UPI00000722CF NM_001346946.1,NM_001346955.1,NM_001346954.1,NM_001346956.1,NM_001346948.1 deleterious(0) probably_damaging(0.998) 2/2 PANTHER:PTHR14464:SF4,PANTHER:PTHR14464,Pfam:PF09810 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 2 NA NA NA . CAG . 3117.6 NA NA NA NA NA NA NA NA NA 40515034 FOXO6 100132074 . GRCh38 chr1 41382200 41382201 + Splice_Site INS - - GCCCGCGCCGGGACGCCCGCCTACTTCGGCGGCTGCAAGGGCGGCGCCTACGGCGGGGGCGGGGGCTTCGGGCCGCCGGCGATGGGCGCTCTGCGCCGTCTGCCCATGCAGACCATCCAGGAGAACAAGCAGGCCAGCTTCGTGCCGGCCGCGGCGCCCTTCCGCCCTGGGGCGCTGCCCGCGCTGCTGCCGCCGCCGCC novel NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1007_1008insGGGACGCCCGCCTACTTCGGCGGCTGCAAGGGCGGCGCCTACGGCGGGGGCGGGGGCTTCGGGCCGCCGGCGATGGGCGCTCTGCGCCGTCTGCCCATGCAGACCATCCAGGAGAACAAGCAGGCCAGCTTCGTGCCGGCCGCGGCGCCCTTCCGCCCTGGGGCGCTGCCCGCGCTGCTGCCGCCGCCGCCGCCCGCGCC p.Arg337GlyfsTer106 p.X336_splice ENST00000641094 NA NA NA NA NA NA FOXO6,splice_acceptor_variant,p.Arg337GlyfsTer106,ENST00000641094,NM_001291281.3;FOXO6,non_coding_transcript_exon_variant,,ENST00000372591,; GCCCGCGCCGGGACGCCCGCCTACTTCGGCGGCTGCAAGGGCGGCGCCTACGGCGGGGGCGGGGGCTTCGGGCCGCCGGCGATGGGCGCTCTGCGCCGTCTGCCCATGCAGACCATCCAGGAGAACAAGCAGGCCAGCTTCGTGCCGGCCGCGGCGCCCTTCCGCCCTGGGGCGCTGCCCGCGCTGCTGCCGCCGCCGCC ENSG00000204060 ENST00000641094 Transcript splice_acceptor_variant,frameshift_variant 999-1000/1476 999-1000/1476 333-334/492 -/ARAGTPAYFGGCKGGAYGGGGGFGPPAMGALRRLPMQTIQENKQASFVPAAAPFRPGALPALLPPPX -/GCCCGCGCCGGGACGCCCGCCTACTTCGGCGGCTGCAAGGGCGGCGCCTACGGCGGGGGCGGGGGCTTCGGGCCGCCGGCGATGGGCGCTCTGCGCCGTCTGCCCATGCAGACCATCCAGGAGAACAAGCAGGCCAGCTTCGTGCCGGCCGCGGCGCCCTTCCGCCCTGGGGCGCTGCCCGCGCTGCTGCCGCCGCCGCC 1 NA 1 FOXO6 HGNC HGNC:24814 protein_coding YES ENSP00000493184 A8MYZ6.101 UPI00015E0BB0 NM_001291281.3 Low_complexity_(Seg):seg,PANTHER:PTHR45767,PANTHER:PTHR45767,PANTHER:PTHR45767:SF5,PANTHER:PTHR45767:SF5 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 insertion NA 9 NA NA . GGG . 1347.06 NA NA NA NA NA NA NA NA NA 41382200 YBX1 4904 . GRCh38 chr1 42700889 42700889 + Silent SNP C C A novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.999C>A p.Arg333= p.R333= ENST00000436427 6/7 NA NA NA NA NA NA YBX1,synonymous_variant,p.Arg283=,ENST00000321358,NM_004559.5;YBX1,synonymous_variant,p.Arg333=,ENST00000436427,;YBX1,downstream_gene_variant,,ENST00000332220,;YBX1,downstream_gene_variant,,ENST00000467957,; A ENSG00000065978 ENST00000436427 Transcript synonymous_variant 998/1524 999/1125 333/374 R cgC/cgA 1 NA 1 YBX1 HGNC HGNC:8014 protein_coding YES ENSP00000389639 H0Y449.66 UPI000059CFB8 6/7 Low_complexity_(Seg):seg,MobiDB_lite:mobidb-lite,PANTHER:PTHR11544,PANTHER:PTHR11544:SF120 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . GCA . 53.6 NA NA NA NA NA NA NA NA NA 42700889 SZT2 23334 . GRCh38 chr1 43439670 43439670 + Frame_Shift_Del DEL C C - rs753888420 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.6948del p.Ser2317ProfsTer17 p.S2317Pfs*17 ENST00000634258 50/72 NA NA NA NA NA NA SZT2,frameshift_variant,p.Ser2317ProfsTer17,ENST00000634258,NM_001365999.1;SZT2,frameshift_variant,p.Ser2260ProfsTer17,ENST00000562955,NM_015284.4;SZT2,non_coding_transcript_exon_variant,,ENST00000649403,;SZT2,downstream_gene_variant,,ENST00000470897,;SZT2,downstream_gene_variant,,ENST00000471177,;SZT2,non_coding_transcript_exon_variant,,ENST00000648058,;SZT2,upstream_gene_variant,,ENST00000638263,;SZT2,downstream_gene_variant,,ENST00000639197,; - ENSG00000198198 ENST00000634258 Transcript frameshift_variant 7013/14136 6943/10299 2315/3432 P/X Ccc/cc rs753888420 1 NA 1 SZT2 HGNC HGNC:29040 protein_coding YES ENSP00000489255 Q5T011.129 UPI0001E24F45 NM_001365999.1 50/72 PANTHER:PTHR14918,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 5 5 NA 1 . GGCC . 5823.6 4.02e-06 NA NA NA NA NA 8.899e-06 NA NA 43439669 SZT2 23334 . GRCh38 chr1 43440512 43440512 + Frame_Shift_Del DEL C C - NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.7274del p.Pro2425LeufsTer9 p.P2425Lfs*9 ENST00000634258 52/72 NA NA NA NA NA NA SZT2,frameshift_variant,p.Pro2425LeufsTer9,ENST00000634258,NM_001365999.1;SZT2,frameshift_variant,p.Pro2368LeufsTer9,ENST00000562955,NM_015284.4;SZT2,non_coding_transcript_exon_variant,,ENST00000649403,;SZT2,downstream_gene_variant,,ENST00000470897,;SZT2,downstream_gene_variant,,ENST00000471177,;SZT2,non_coding_transcript_exon_variant,,ENST00000648058,;SZT2,upstream_gene_variant,,ENST00000460536,;SZT2,upstream_gene_variant,,ENST00000638263,;SZT2,downstream_gene_variant,,ENST00000639197,; - ENSG00000198198 ENST00000634258 Transcript frameshift_variant 7340/14136 7270/10299 2424/3432 P/X Ccc/cc COSV65175105 1 NA 1 SZT2 HGNC HGNC:29040 protein_coding YES ENSP00000489255 Q5T011.129 UPI0001E24F45 NM_001365999.1 52/72 PANTHER:PTHR14918,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA 1 NA NA NA NA HIGH 1 deletion 5 4 1 NA 1 . TTCC . 3790.6 NA NA NA NA NA NA NA NA NA 43440511 PTPRF 5792 . GRCh38 chr1 43606877 43606877 + Missense_Mutation SNP C C G novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3766C>G p.Gln1256Glu p.Q1256E ENST00000359947 21/34 NA NA NA NA NA NA PTPRF,missense_variant,p.Gln1256Glu,ENST00000359947,NM_001329138.1,NM_001329137.1,NM_001329139.1,NM_002840.5;PTPRF,missense_variant,p.Gln1247Glu,ENST00000438120,NM_130440.3,NM_001329140.1;PTPRF,missense_variant,p.Gln902Glu,ENST00000429895,;PTPRF,missense_variant,p.Gln670Glu,ENST00000414879,;PTPRF,missense_variant,p.Gln317Glu,ENST00000372407,;PTPRF,missense_variant,p.Gln629Glu,ENST00000412568,;PTPRF,non_coding_transcript_exon_variant,,ENST00000496447,;PTPRF,downstream_gene_variant,,ENST00000463041,;,regulatory_region_variant,,ENSR00000923409,; G ENSG00000142949 ENST00000359947 Transcript missense_variant 4099/7720 3766/5724 1256/1907 Q/E Cag/Gag 1 NA 1 PTPRF HGNC HGNC:9670 protein_coding YES CCDS489.2 ENSP00000353030 P10586.230 UPI0000470154 NM_001329138.1,NM_001329137.1,NM_001329139.1,NM_002840.5 tolerated(0.81) benign(0.142) 21/34 PANTHER:PTHR19134,PANTHER:PTHR19134:SF203 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . GCA . 1803.6 NA NA NA NA NA NA NA NA NA 43606877 KLF18 0 . GRCh38 chr1 44139048 44139049 + In_Frame_Ins INS - - CTGGTTACCAGTGGAGGTCATCATATTCTGCCCCCCGTAGAGGGC rs368966417 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2583_2584insGCCCTCTACGGGGGGCAGAATATGATGACCTCCACTGGTAACCAG p.Gln861_Asn862insAlaLeuTyrGlyGlyGlnAsnMetMetThrSerThrGlyAsnGln p.Q861_N862insALYGGQNMMTSTGNQ ENST00000634670 1/2 NA NA NA NA NA NA KLF18,inframe_insertion,p.Gln861_Asn862insAlaLeuTyrGlyGlyGlnAsnMetMetThrSerThrGlyAsnGln,ENST00000634670,NM_001358438.1;KLF17,downstream_gene_variant,,ENST00000372299,NM_173484.4; CTGGTTACCAGTGGAGGTCATCATATTCTGCCCCCCGTAGAGGGC ENSG00000283039 ENST00000634670 Transcript inframe_insertion 2583-2584/3159 2583-2584/3159 861-862/1052 -/ALYGGQNMMTSTGNQ -/GCCCTCTACGGGGGGCAGAATATGATGACCTCCACTGGTAACCAG rs368966417 1 NA -1 KLF18 HGNC HGNC:51793 protein_coding YES CCDS85967.1 ENSP00000489024 A0A0U1RQI7.24 UPI0005D01F2D NM_001358438.1 1/2 PANTHER:PTHR23235,PANTHER:PTHR23235,PANTHER:PTHR23235:SF85,PANTHER:PTHR23235:SF85 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE NA insertion 5 NA NA NA . TTC . 43221.06 NA NA NA NA NA NA NA NA NA 44139048 KLF18 0 . GRCh38 chr1 44139384 44139425 + In_Frame_Del DEL TCTGGTTACCAGTGGAGGTCATCATCTGCCCCCAGTAGAGGG TCTGGTTACCAGTGGAGGTCATCATCTGCCCCCAGTAGAGGG - rs1557736983 NA HCI-EC-23 NORMAL TCTGGTTACCAGTGGAGGTCATCATCTGCCCCCAGTAGAGGG TCTGGTTACCAGTGGAGGTCATCATCTGCCCCCAGTAGAGGG NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2207_2248del p.Thr736_Gln749del p.T736_Q749del ENST00000634670 1/2 NA NA NA NA NA NA KLF18,inframe_deletion,p.Thr736_Gln749del,ENST00000634670,NM_001358438.1;KLF17,downstream_gene_variant,,ENST00000372299,NM_173484.4; - ENSG00000283039 ENST00000634670 Transcript inframe_deletion 2207-2248/3159 2207-2248/3159 736-750/1052 TLYWGQMMTSTGNQN/N aCCCTCTACTGGGGGCAGATGATGACCTCCACTGGTAACCAGAac/aac rs1557736983 1 NA -1 KLF18 HGNC HGNC:51793 protein_coding YES CCDS85967.1 ENSP00000489024 A0A0U1RQI7.24 UPI0005D01F2D NM_001358438.1 1/2 PANTHER:PTHR23235,PANTHER:PTHR23235:SF85 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE NA deletion 5 NA NA NA . GTTCTGGTTACCAGTGGAGGTCATCATCTGCCCCCAGTAGAGGGT . 9357.6 NA NA NA NA NA NA NA NA NA 44139383 KLF18 0 . GRCh38 chr1 44140351 44140351 + Silent SNP T T C rs79714745 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1281A>G p.Gln427= p.Q427= ENST00000634670 1/2 NA NA NA NA NA NA KLF18,synonymous_variant,p.Gln427=,ENST00000634670,NM_001358438.1; C ENSG00000283039 ENST00000634670 Transcript synonymous_variant 1281/3159 1281/3159 427/1052 Q caA/caG rs79714745 1 NA -1 KLF18 HGNC HGNC:51793 protein_coding YES CCDS85967.1 ENSP00000489024 A0A0U1RQI7.24 UPI0005D01F2D NM_001358438.1 1/2 PANTHER:PTHR23235,PANTHER:PTHR23235:SF85 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . CTT . 404.6 NA NA NA NA NA NA NA NA NA 44140351 KLF18 0 . GRCh38 chr1 44140893 44140893 + Missense_Mutation SNP A A G rs2022028 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.739T>C p.Phe247Leu p.F247L ENST00000634670 1/2 NA NA NA NA NA NA KLF18,missense_variant,p.Phe247Leu,ENST00000634670,NM_001358438.1; G ENSG00000283039 ENST00000634670 Transcript missense_variant 739/3159 739/3159 247/1052 F/L Ttc/Ctc rs2022028 1 NA -1 KLF18 HGNC HGNC:51793 protein_coding YES CCDS85967.1 ENSP00000489024 A0A0U1RQI7.24 UPI0005D01F2D NM_001358438.1 tolerated(1) benign(0) 1/2 PANTHER:PTHR23235,PANTHER:PTHR23235:SF85 NA 0.8986 0.745 NA 0.5784 0.6024 0.7444 NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . AAG . 52882.03 NA NA NA NA NA NA NA NA NA 44140893 MAST2 23139 . GRCh38 chr1 46028887 46028887 + Frame_Shift_Del DEL T T - novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2178del p.Phe726LeufsTer12 p.F726Lfs*12 ENST00000361297 18/29 NA NA NA NA NA NA MAST2,frameshift_variant,p.Phe726LeufsTer12,ENST00000361297,NM_001324320.1,NM_015112.3,NM_001319245.1;MAST2,frameshift_variant,p.Phe583LeufsTer12,ENST00000674079,NM_001324321.1;MAST2,frameshift_variant,p.Phe364LeufsTer12,ENST00000372009,;MAST2,frameshift_variant,p.Phe611LeufsTer12,ENST00000372008,;MAST2,downstream_gene_variant,,ENST00000467367,;MAST2,upstream_gene_variant,,ENST00000477968,;MAST2,upstream_gene_variant,,ENST00000492813,; - ENSG00000086015 ENST00000361297 Transcript frameshift_variant 2456/5737 2172/5397 724/1798 P/X ccT/cc 1 NA 1 MAST2 HGNC HGNC:19035 protein_coding YES CCDS41326.1 ENSP00000354671 Q6P0Q8.157 UPI0000458AEB NM_001324320.1,NM_015112.3,NM_001319245.1 18/29 Gene3D:1.10.510.10,Gene3D:3.30.200.20,Pfam:PF00069,PROSITE_profiles:PS50011,PANTHER:PTHR24356,PANTHER:PTHR24356:SF136,SMART:SM00220,Superfamily:SSF56112,CDD:cd05609 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 6 NA NA . CCTT . 3863.6 NA NA NA NA NA NA NA NA NA 46028886 MAST2 23139 . GRCh38 chr1 46028921 46028921 + Nonsense_Mutation SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2206C>T p.Gln736Ter p.Q736* ENST00000361297 18/29 NA NA NA NA NA NA MAST2,stop_gained,p.Gln736Ter,ENST00000361297,NM_001324320.1,NM_015112.3,NM_001319245.1;MAST2,stop_gained,p.Gln593Ter,ENST00000674079,NM_001324321.1;MAST2,stop_gained,p.Gln374Ter,ENST00000372009,;MAST2,stop_gained,p.Gln621Ter,ENST00000372008,;MAST2,downstream_gene_variant,,ENST00000467367,;MAST2,upstream_gene_variant,,ENST00000477968,;MAST2,upstream_gene_variant,,ENST00000492813,; T ENSG00000086015 ENST00000361297 Transcript stop_gained 2490/5737 2206/5397 736/1798 Q/* Cag/Tag 1 NA 1 MAST2 HGNC HGNC:19035 protein_coding YES CCDS41326.1 ENSP00000354671 Q6P0Q8.157 UPI0000458AEB NM_001324320.1,NM_015112.3,NM_001319245.1 18/29 Gene3D:1.10.510.10,Gene3D:3.30.200.20,Pfam:PF00069,PROSITE_profiles:PS50011,PANTHER:PTHR24356,PANTHER:PTHR24356:SF136,SMART:SM00220,Superfamily:SSF56112,CDD:cd05609 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 SNV 1 NA NA NA . GCA . 2956.6 NA NA NA NA NA NA NA NA NA 46028921 LRRC41 10489 . GRCh38 chr1 46286293 46286293 + Silent SNP C C A novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.564G>T p.Leu188= p.L188= ENST00000617190 4/10 NA NA NA NA NA NA LRRC41,synonymous_variant,p.Leu188=,ENST00000617190,;LRRC41,synonymous_variant,p.Leu188=,ENST00000343304,NM_006369.4;LRRC41,synonymous_variant,p.Leu166=,ENST00000615587,;LRRC41,upstream_gene_variant,,ENST00000617760,;LRRC41,synonymous_variant,p.Leu78=,ENST00000472710,;LRRC41,synonymous_variant,p.Leu166=,ENST00000498402,;,regulatory_region_variant,,ENSR00000356364,;,regulatory_region_variant,,ENSR00000356365,;,TF_binding_site_variant,,ENSM00194796259,; A ENSG00000132128 ENST00000617190 Transcript synonymous_variant 850/4128 564/2439 188/812 L ctG/ctT 1 NA -1 LRRC41 HGNC HGNC:16917 protein_coding YES CCDS533.1 ENSP00000477792 Q15345.176 UPI0000225CC7 4/10 PANTHER:PTHR15354 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . CCA . 5383.6 NA NA NA NA NA NA NA NA NA 46286293 TTC39A 22996 . GRCh38 chr1 51312134 51312134 + Missense_Mutation SNP C C T rs1557724507 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.343G>A p.Gly115Ser p.G115S ENST00000447632 4/18 NA NA NA NA NA NA TTC39A,missense_variant,p.Gly111Ser,ENST00000262676,;TTC39A,missense_variant,p.Gly115Ser,ENST00000447632,NM_001297665.1;TTC39A,missense_variant,p.Gly118Ser,ENST00000413473,NM_001144832.2;TTC39A,missense_variant,p.Gly87Ser,ENST00000262675,NM_001297663.1,NM_001297664.1;TTC39A,missense_variant,p.Gly115Ser,ENST00000371750,NM_001080494.3;TTC39A,missense_variant,p.Gly114Ser,ENST00000371747,NM_001297662.2;TTC39A,missense_variant,p.Gly114Ser,ENST00000439482,;TTC39A,missense_variant,p.Gly87Ser,ENST00000411642,;TTC39A,missense_variant,p.Gly87Ser,ENST00000422925,;TTC39A,missense_variant,p.Gly87Ser,ENST00000380849,;TTC39A,missense_variant,p.Gly142Ser,ENST00000527205,;TTC39A,missense_variant,p.Gly118Ser,ENST00000401051,;TTC39A,missense_variant,p.Gly87Ser,ENST00000532836,; T ENSG00000085831 ENST00000447632 Transcript missense_variant 392/2790 343/1842 115/613 G/S Ggc/Agc rs1557724507,COSV52962035 1 NA -1 TTC39A HGNC HGNC:18657 protein_coding YES CCDS72790.1 ENSP00000393952 Q5SRH9.134 UPI000046FE6B NM_001297665.1 tolerated(0.08) benign(0.015) 4/18 Pfam:PF10300,PANTHER:PTHR31859,PANTHER:PTHR31859:SF3 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 1 NA 0,1 NA NA . CCC . 3366.6 NA NA NA NA NA NA NA NA NA 51312134 EPS15 2060 . GRCh38 chr1 51421853 51421853 + Frame_Shift_Del DEL T T - novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1046del p.Lys349ArgfsTer77 p.K349Rfs*77 ENST00000371733 13/25 NA NA NA NA NA NA EPS15,frameshift_variant,p.Lys349ArgfsTer77,ENST00000371733,NM_001981.3;EPS15,frameshift_variant,p.Lys349ArgfsTer89,ENST00000371730,;EPS15,non_coding_transcript_exon_variant,,ENST00000493793,;,regulatory_region_variant,,ENSR00000357338,; - ENSG00000085832 ENST00000371733 Transcript frameshift_variant 1081/5163 1046/2691 349/896 K/X aAg/ag 1 NA -1 EPS15 HGNC HGNC:3419 protein_coding YES CCDS557.1 ENSP00000360798 P42566.215 UPI0000161B29 NM_001981.3 13/25 Coiled-coils_(Ncoils):Coil,PANTHER:PTHR11216,PANTHER:PTHR11216:SF54,Superfamily:SSF90257 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 NA NA 1 . TCTT . 2339.6 NA NA NA NA NA NA NA NA NA 51421852 TXNDC12 51060 . GRCh38 chr1 52024542 52024542 + Missense_Mutation SNP T T C novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.323A>G p.Asp108Gly p.D108G ENST00000371626 5/7 NA NA NA NA NA NA TXNDC12,missense_variant,p.Asp108Gly,ENST00000371626,NM_015913.4;TXNDC12,non_coding_transcript_exon_variant,,ENST00000471493,;TXNDC12,upstream_gene_variant,,ENST00000469458,;AL445685.3,3_prime_UTR_variant,,ENST00000648686,;TXNDC12,3_prime_UTR_variant,,ENST00000472624,; C ENSG00000117862 ENST00000371626 Transcript missense_variant 418/1416 323/519 108/172 D/G gAc/gGc 1 NA -1 TXNDC12 HGNC HGNC:24626 protein_coding YES CCDS561.1 ENSP00000360688 O95881.173 UPI000003B0AC NM_015913.4 deleterious(0) probably_damaging(1) 5/7 PDB-ENSP_mappings:1sen.A,PDB-ENSP_mappings:2k8v.A,PROSITE_profiles:PS51352,CDD:cd02959,PANTHER:PTHR15337:SF10,PANTHER:PTHR15337,Gene3D:3.40.30.10,Pfam:PF13899,Superfamily:SSF52833 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . GTC . 2444.6 NA NA NA NA NA NA NA NA NA 52024542 ZFYVE9 9372 . GRCh38 chr1 52278538 52278538 + Missense_Mutation SNP G G C novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2793G>C p.Gln931His p.Q931H ENST00000371591 10/20 NA NA NA NA NA NA ZFYVE9,missense_variant,p.Gln931His,ENST00000371591,;ZFYVE9,missense_variant,p.Gln931His,ENST00000287727,NM_004799.3;ZFYVE9,missense_variant,p.Gln872His,ENST00000357206,NM_007324.4; C ENSG00000157077 ENST00000371591 Transcript missense_variant 3308/7243 2793/4278 931/1425 Q/H caG/caC 1 NA 1 ZFYVE9 HGNC HGNC:6775 protein_coding YES CCDS563.1 ENSP00000360647 O95405.183 UPI0000001620 tolerated(0.05) probably_damaging(0.959) 10/20 PDB-ENSP_mappings:4bkw.A,PANTHER:PTHR46319,PANTHER:PTHR46319:SF2,PIRSF:PIRSF037289 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . AGT . 814.6 NA NA NA NA NA NA NA NA NA 52278538 TUT4 23318 . GRCh38 chr1 52425394 52425394 + Missense_Mutation SNP G G C rs372417888 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4825C>G p.Gln1609Glu p.Q1609E ENST00000257177 29/30 NA NA NA NA NA NA TUT4,missense_variant,p.Gln1608Glu,ENST00000371544,NM_015269.2;TUT4,missense_variant,p.Gln1609Glu,ENST00000257177,NM_001009881.3;TUT4,missense_variant,p.Gln115Glu,ENST00000494469,;TUT4,missense_variant,p.Gln111Glu,ENST00000528457,;TUT4,missense_variant,p.Gln62Glu,ENST00000471623,;PRPF38A,downstream_gene_variant,,ENST00000257181,NM_032864.4;TUT4,missense_variant,p.Gln72Glu,ENST00000527941,;TUT4,non_coding_transcript_exon_variant,,ENST00000466440,; C ENSG00000134744 ENST00000257177 Transcript missense_variant 5080/5853 4825/4938 1609/1645 Q/E Cag/Gag rs372417888 1 NA -1 TUT4 HGNC HGNC:28981 protein_coding YES CCDS30715.1 ENSP00000257177 A0A0C4DFM7.37 UPI00001D7D0C NM_001009881.3 deleterious_low_confidence(0) probably_damaging(1) 29/30 NA NA NA NA NA NA NA NA 0.0001163 NA NA NA NA MODERATE 1 SNV 1 NA NA NA . TGA . 2324.6 1.592e-05 NA NA NA NA NA 2.639e-05 0.000163 NA 52425394 GLIS1 148979 . GRCh38 chr1 53600105 53600105 + Missense_Mutation SNP C C T rs12723437 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.433G>A p.Asp145Asn p.D145N ENST00000628545 2/10 NA NA NA NA NA NA GLIS1,missense_variant,p.Asp145Asn,ENST00000628545,NM_001367484.1;GLIS1,5_prime_UTR_variant,,ENST00000312233,NM_147193.2;,regulatory_region_variant,,ENSR00000924478,; T ENSG00000174332 ENST00000628545 Transcript missense_variant 475/2807 433/2388 145/795 D/N Gac/Aac rs12723437 1 NA -1 GLIS1 HGNC HGNC:29525 protein_coding YES ENSP00000486112 A0A0D9SEX9.33 UPI000387B771 NM_001367484.1 tolerated_low_confidence(0.69) benign(0) 2/10 PANTHER:PTHR45718,PANTHER:PTHR45718:SF3 NA 0.3283 0.8775 NA 0.5764 0.9831 0.9213 NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . TCA . 11488.03 NA NA NA NA NA NA NA NA NA 53600105 GLIS1 148979 . GRCh38 chr1 53600158 53600158 + Missense_Mutation SNP G G T rs12723875 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.380C>A p.Pro127Gln p.P127Q ENST00000628545 2/10 NA NA NA NA NA NA GLIS1,missense_variant,p.Pro127Gln,ENST00000628545,NM_001367484.1;GLIS1,5_prime_UTR_variant,,ENST00000312233,NM_147193.2;,regulatory_region_variant,,ENSR00000924478,; T ENSG00000174332 ENST00000628545 Transcript missense_variant 422/2807 380/2388 127/795 P/Q cCg/cAg rs12723875 1 NA -1 GLIS1 HGNC HGNC:29525 protein_coding YES ENSP00000486112 A0A0D9SEX9.33 UPI000387B771 NM_001367484.1 tolerated_low_confidence(0.06) probably_damaging(0.95) 2/10 PANTHER:PTHR45718,PANTHER:PTHR45718:SF3 NA 0.3283 0.8775 NA 0.5764 0.9831 0.9213 NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . CGG . 11314.03 NA NA NA NA NA NA NA NA NA 53600158 MROH7 374977 . GRCh38 chr1 54679893 54679893 + Splice_Region SNP C C T rs758553862 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2229C>T p.Ile743= p.I743= ENST00000421030 13/24 NA NA NA NA NA NA MROH7,splice_region_variant,p.Ile743=,ENST00000421030,NM_001039464.4;MROH7,splice_region_variant,p.Ile743=,ENST00000339553,;MROH7,splice_region_variant,p.Ile743=,ENST00000395690,;MROH7,splice_region_variant,p.Ile311=,ENST00000409996,NM_001291332.1;MROH7-TTC4,splice_region_variant,,ENST00000425300,;MROH7-TTC4,splice_region_variant,p.Ile743=,ENST00000414150,;MROH7-TTC4,splice_region_variant,,ENST00000606515,;MROH7,splice_region_variant,,ENST00000422659,;MROH7,splice_region_variant,,ENST00000438846,;MROH7,splice_region_variant,,ENST00000440217,;MROH7,intron_variant,,ENST00000413188,;MROH7,intron_variant,,ENST00000440047,; T ENSG00000184313 ENST00000421030 Transcript splice_region_variant,synonymous_variant 2521/4343 2229/3972 743/1323 I atC/atT rs758553862 1 NA 1 MROH7 HGNC HGNC:24802 protein_coding YES CCDS41342.2 ENSP00000396622 Q68CQ1.136 UPI000198C4E2 NM_001039464.4 13/24 PANTHER:PTHR23120,PANTHER:PTHR23120:SF17,Superfamily:SSF48371 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 2 NA NA NA . TCC . 1544.6 3.249e-05 NA NA NA NA NA 7.1e-05 NA NA 54679893 FYB2 199920 . GRCh38 chr1 56726526 56726526 + Frame_Shift_Del DEL T T - novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1851del p.Glu618ArgfsTer24 p.E618Rfs*24 ENST00000343433 16/20 NA NA NA NA NA NA FYB2,frameshift_variant,p.Glu618ArgfsTer24,ENST00000343433,NM_001004303.5;FYB2,non_coding_transcript_exon_variant,,ENST00000493000,;FYB2,downstream_gene_variant,,ENST00000484327,;FYB2,downstream_gene_variant,,ENST00000371240,; - ENSG00000187889 ENST00000343433 Transcript frameshift_variant 1965/3183 1851/2187 617/728 K/X aaA/aa 1 NA -1 FYB2 HGNC HGNC:27295 protein_coding YES CCDS30729.1 ENSP00000345972 Q5VWT5.122 UPI000022AE5B NM_001004303.5 16/20 PANTHER:PTHR16830,PANTHER:PTHR16830:SF1 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 NA NA NA . TCTT . 1857.6 NA NA NA NA NA NA NA NA NA 56726525 JUN 3725 . GRCh38 chr1 58782789 58782789 + Frame_Shift_Del DEL G G - novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.282del p.Thr95ProfsTer9 p.T95Pfs*9 ENST00000371222 1/1 NA NA NA NA NA NA JUN,frameshift_variant,p.Thr95ProfsTer9,ENST00000371222,NM_002228.4;LINC01135,upstream_gene_variant,,ENST00000419531,;LINC01135,upstream_gene_variant,,ENST00000649834,;LINC01135,upstream_gene_variant,,ENST00000653297,;LINC01135,upstream_gene_variant,,ENST00000663144,;LINC01135,upstream_gene_variant,,ENST00000669294,;JUN,frameshift_variant,p.Thr95ProfsTer9,ENST00000678696,;,regulatory_region_variant,,ENSR00000007152,; - ENSG00000177606 ENST00000371222 Transcript frameshift_variant 1259/3257 282/996 94/331 P/X ccC/cc 1 NA -1 JUN HGNC HGNC:6204 protein_coding YES CCDS610.1 ENSP00000360266 P05412.249 UPI000000D908 NM_002228.4 1/1 Pfam:PF03957,PANTHER:PTHR11462:SF8,PANTHER:PTHR11462 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH NA deletion NA NA NA 1 . GTGG . 960.6 NA NA NA NA NA NA NA NA NA 58782788 EFCAB7 84455 . GRCh38 chr1 63568341 63568341 + Frame_Shift_Del DEL A A - novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1533del p.Lys511AsnfsTer34 p.K511Nfs*34 ENST00000371088 12/14 NA NA NA NA NA NA EFCAB7,frameshift_variant,p.Lys511AsnfsTer34,ENST00000371088,NM_032437.4;EFCAB7,non_coding_transcript_exon_variant,,ENST00000461039,;EFCAB7,non_coding_transcript_exon_variant,,ENST00000460678,;ITGB3BP,intron_variant,,ENST00000478138,; - ENSG00000203965 ENST00000371088 Transcript frameshift_variant 1640/2178 1529/1890 510/629 E/X gAa/ga 1 NA 1 EFCAB7 HGNC HGNC:29379 protein_coding YES CCDS30737.1 ENSP00000360129 A8K855.102 UPI000006EAB2 NM_032437.4 12/14 PANTHER:PTHR23064:SF22,PANTHER:PTHR23064 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 4 NA NA . AGAA . 1333.6 NA NA NA NA NA NA NA NA NA 63568340 JAK1 3716 . GRCh38 chr1 64841314 64841314 + Frame_Shift_Del DEL T T - novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2580del p.Lys860AsnfsTer16 p.K860Nfs*16 ENST00000672434 21/27 NA NA NA NA NA NA JAK1,frameshift_variant,p.Lys860AsnfsTer16,ENST00000672434,NM_001321854.2,NM_001321853.2;JAK1,frameshift_variant,p.Lys860AsnfsTer16,ENST00000342505,NM_001321857.2,NM_002227.4;JAK1,frameshift_variant,p.Lys860AsnfsTer16,ENST00000672247,NM_001321855.2;JAK1,frameshift_variant,p.Lys860AsnfsTer16,ENST00000671954,NM_001321852.2;JAK1,frameshift_variant,p.Lys860AsnfsTer16,ENST00000671929,;JAK1,frameshift_variant,p.Lys816AsnfsTer16,ENST00000673254,;JAK1,frameshift_variant,p.Lys858AsnfsTer16,ENST00000673046,;JAK1,frameshift_variant,p.Lys860AsnfsTer16,ENST00000672179,NM_001321856.1,NM_001320923.1;JAK1,frameshift_variant,p.Lys699AsnfsTer16,ENST00000673246,;JAK1,frameshift_variant,p.Lys174AsnfsTer16,ENST00000672574,;JAK1,non_coding_transcript_exon_variant,,ENST00000465376,;JAK1,3_prime_UTR_variant,,ENST00000673220,;JAK1,3_prime_UTR_variant,,ENST00000671746,;JAK1,non_coding_transcript_exon_variant,,ENST00000673314,;JAK1,downstream_gene_variant,,ENST00000471473,;JAK1,upstream_gene_variant,,ENST00000481702,; - ENSG00000162434 ENST00000672434 Transcript frameshift_variant 3045/5247 2580/3465 860/1154 K/X aaA/aa 1 NA -1 JAK1 HGNC HGNC:6190 protein_coding YES CCDS41346.1 ENSP00000499900 P23458.218 UPI0000054C7D NM_001321854.2,NM_001321853.2 21/27 Gene3D:1.10.510.10,PIRSF:PIRSF000636,PANTHER:PTHR45807,PANTHER:PTHR45807:SF5 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion NA NA NA 1 . GGTT . 1382.6 NA NA NA NA NA NA NA NA NA 64841313 JAK1 3716 . GRCh38 chr1 64873427 64873428 + Frame_Shift_Ins INS - - T novel NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.425dup p.Ile143AspfsTer9 p.I143Dfs*9 ENST00000672434 7/27 NA NA NA NA NA NA JAK1,frameshift_variant,p.Ile143AspfsTer9,ENST00000672434,NM_001321854.2,NM_001321853.2;JAK1,frameshift_variant,p.Ile143AspfsTer9,ENST00000342505,NM_001321857.2,NM_002227.4;JAK1,frameshift_variant,p.Ile143AspfsTer9,ENST00000672247,NM_001321855.2;JAK1,frameshift_variant,p.Ile143AspfsTer9,ENST00000671954,NM_001321852.2;JAK1,frameshift_variant,p.Ile143AspfsTer9,ENST00000671929,;JAK1,frameshift_variant,p.Ile143AspfsTer9,ENST00000673254,;JAK1,frameshift_variant,p.Ile143AspfsTer9,ENST00000673046,;JAK1,frameshift_variant,p.Ile143AspfsTer9,ENST00000672179,NM_001321856.1,NM_001320923.1;JAK1,frameshift_variant,p.Ile25AspfsTer9,ENST00000673246,;JAK1,frameshift_variant,p.Ile143AspfsTer9,ENST00000673502,;JAK1,frameshift_variant,p.Ile143AspfsTer9,ENST00000672751,;JAK1,downstream_gene_variant,,ENST00000672099,;JAK1,upstream_gene_variant,,ENST00000672903,;JAK1,3_prime_UTR_variant,,ENST00000673220,;JAK1,3_prime_UTR_variant,,ENST00000671746,;JAK1,non_coding_transcript_exon_variant,,ENST00000673314,; T ENSG00000162434 ENST00000672434 Transcript frameshift_variant 890-891/5247 425-426/3465 142/1154 K/KX aag/aaAg 1 NA -1 JAK1 HGNC HGNC:6190 protein_coding YES CCDS41346.1 ENSP00000499900 P23458.218 UPI0000054C7D NM_001321854.2,NM_001321853.2 7/27 PIRSF:PIRSF000636,SMART:SM00295,PROSITE_profiles:PS50057,PANTHER:PTHR45807,PANTHER:PTHR45807:SF5 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 insertion NA NA NA 1 . TCT . 839.64 NA NA NA NA NA NA NA NA NA 64873427 LRRC7 57554 . GRCh38 chr1 70039350 70039350 + Frame_Shift_Del DEL C C - novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3530del p.Pro1177GlnfsTer22 p.P1177Qfs*22 ENST00000651989 21/27 NA NA NA NA NA NA LRRC7,frameshift_variant,p.Pro1177GlnfsTer22,ENST00000651989,NM_001370785.2,NM_001366838.3,NM_001350216.2;LRRC7,frameshift_variant,p.Pro1144GlnfsTer22,ENST00000310961,NM_001330635.3,NM_001366839.3,NM_001366841.1;LRRC7,frameshift_variant,p.Pro423GlnfsTer22,ENST00000415775,;LRRC7,non_coding_transcript_exon_variant,,ENST00000651217,; - ENSG00000033122 ENST00000651989 Transcript frameshift_variant 4244/27923 3526/4728 1176/1575 P/X Ccc/cc 1 NA 1 LRRC7 HGNC HGNC:18531 protein_coding YES ENSP00000498937 A0A494C1A4.7 UPI000387AE46 NM_001370785.2,NM_001366838.3,NM_001350216.2 21/27 PANTHER:PTHR23119,PANTHER:PTHR23119:SF48 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion NA 4 NA NA . TGCC . 5326.6 NA NA NA NA NA NA NA NA NA 70039349 CLCA4 22802 . GRCh38 chr1 86579440 86579440 + Missense_Mutation SNP G G T NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2209G>T p.Gly737Cys p.G737C ENST00000370563 13/14 NA NA NA NA NA NA CLCA4,missense_variant,p.Gly737Cys,ENST00000370563,NM_012128.4;CLCA4-AS1,intron_variant,,ENST00000456587,;CLCA4-AS1,intron_variant,,ENST00000650379,; T ENSG00000016602 ENST00000370563 Transcript missense_variant 2251/3211 2209/2760 737/919 G/C Ggt/Tgt COSV65283388 1 NA 1 CLCA4 HGNC HGNC:2018 protein_coding YES CCDS41355.1 ENSP00000359594 Q14CN2.123 UPI00000389E8 NM_012128.4 deleterious(0) probably_damaging(0.995) 13/14 PANTHER:PTHR10579:SF2,PANTHER:PTHR10579,TIGRFAM:TIGR00868 NA NA NA NA NA NA NA NA NA 1 NA NA NA NA MODERATE 1 SNV 1 NA 1 NA 1 . AGG . 3093.6 NA NA NA NA NA NA NA NA NA 86579440 CLCA4 22802 . GRCh38 chr1 86580266 86580266 + Missense_Mutation SNP G G C rs759448427 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2681G>C p.Gly894Ala p.G894A ENST00000370563 14/14 NA NA NA NA NA NA CLCA4,missense_variant,p.Gly894Ala,ENST00000370563,NM_012128.4;CLCA4-AS1,intron_variant,,ENST00000456587,;CLCA4-AS1,intron_variant,,ENST00000650379,; C ENSG00000016602 ENST00000370563 Transcript missense_variant 2723/3211 2681/2760 894/919 G/A gGa/gCa rs759448427 1 NA 1 CLCA4 HGNC HGNC:2018 protein_coding YES CCDS41355.1 ENSP00000359594 Q14CN2.123 UPI00000389E8 NM_012128.4 tolerated(0.06) benign(0.009) 14/14 Transmembrane_helices:TMhelix,PANTHER:PTHR10579:SF2,PANTHER:PTHR10579 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . GGA . 2759.6 NA NA NA NA NA NA NA NA NA 86580266 LRRC8D 55144 . GRCh38 chr1 89935096 89935096 + Silent SNP C C T rs1454438061 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2028C>T p.Ile676= p.I676= ENST00000337338 3/3 NA NA NA NA NA NA LRRC8D,synonymous_variant,p.Ile676=,ENST00000337338,NM_001134479.2;LRRC8D,synonymous_variant,p.Ile676=,ENST00000394593,NM_018103.5;LRRC8D,downstream_gene_variant,,ENST00000414841,;LRRC8D,downstream_gene_variant,,ENST00000441269,;LRRC8D,downstream_gene_variant,,ENST00000525774,;LRRC8D,downstream_gene_variant,,ENST00000527156,;LRRC8D,downstream_gene_variant,,ENST00000532201,;AL391497.1,upstream_gene_variant,,ENST00000608671,;AC093423.3,downstream_gene_variant,,ENST00000370453,; T ENSG00000171492 ENST00000337338 Transcript synonymous_variant 2435/3950 2028/2577 676/858 I atC/atT rs1454438061 1 NA 1 LRRC8D HGNC HGNC:16992 protein_coding YES CCDS726.1 ENSP00000338887 Q7L1W4.151 UPI00001BBFBA NM_001134479.2 3/3 PROSITE_profiles:PS51450,PANTHER:PTHR45752,PANTHER:PTHR45752:SF11,Gene3D:3.80.10.10,SMART:SM00369,SMART:SM00365,Superfamily:SSF52058 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 2 NA NA NA . TCA . 3336.6 3.982e-06 NA NA NA NA NA NA NA 3.267e-05 89935096 TGFBR3 7049 . GRCh38 chr1 91729882 91729882 + Silent SNP C C G novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.660G>C p.Gly220= p.G220= ENST00000212355 6/17 NA NA NA NA NA NA TGFBR3,synonymous_variant,p.Gly220=,ENST00000212355,NM_003243.5;TGFBR3,synonymous_variant,p.Gly220=,ENST00000370399,NM_001195684.1;TGFBR3,synonymous_variant,p.Gly220=,ENST00000525962,;TGFBR3,synonymous_variant,p.Gly220=,ENST00000465892,NM_001195683.2;TGFBR3,non_coding_transcript_exon_variant,,ENST00000468996,;TGFBR3,3_prime_UTR_variant,,ENST00000533089,;TGFBR3,3_prime_UTR_variant,,ENST00000532540,;TGFBR3,upstream_gene_variant,,ENST00000529608,;,regulatory_region_variant,,ENSR00000009760,; G ENSG00000069702 ENST00000212355 Transcript synonymous_variant 1047/6339 660/2556 220/851 G ggG/ggC 1 NA -1 TGFBR3 HGNC HGNC:11774 protein_coding YES CCDS30770.1 ENSP00000212355 Q03167.175 UPI000049D997 NM_003243.5 6/17 PANTHER:PTHR14002:SF7,PANTHER:PTHR14002 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . ACC . 643.6 NA NA NA NA NA NA NA NA NA 91729882 ARHGAP29 9411 . GRCh38 chr1 94179953 94179954 + Frame_Shift_Del DEL GG GG - novel NA HCI-EC-23 NORMAL GG GG NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2251_2252del p.Pro751ArgfsTer24 p.P751Rfs*24 ENST00000260526 20/23 NA NA NA NA NA NA ARHGAP29,frameshift_variant,p.Pro751ArgfsTer24,ENST00000260526,NM_001328665.2,NM_001328664.2,NM_001328667.2,NM_001328666.2,NM_004815.4;ARHGAP29,non_coding_transcript_exon_variant,,ENST00000482481,;ARHGAP29,frameshift_variant,p.Pro751ArgfsTer24,ENST00000552844,; - ENSG00000137962 ENST00000260526 Transcript frameshift_variant 2453-2454/8952 2251-2252/3786 751/1261 P/X CCa/a 1 NA -1 ARHGAP29 HGNC HGNC:30207 protein_coding YES CCDS748.1 ENSP00000260526 Q52LW3.137 UPI000013D0E4 NM_001328665.2,NM_001328664.2,NM_001328667.2,NM_001328666.2,NM_004815.4 20/23 PROSITE_profiles:PS50238,CDD:cd04409,PANTHER:PTHR15228,PANTHER:PTHR15228:SF7,Pfam:PF00620,Gene3D:1.10.555.10,SMART:SM00324,Superfamily:SSF48350 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 NA NA 1 . CTGGG . 64.6 NA NA NA NA NA NA NA NA NA 94179952 PLPPR5 163404 . GRCh38 chr1 99004592 99004592 + Missense_Mutation SNP G G A rs1228426357 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.80C>T p.Ala27Val p.A27V ENST00000672681 1/7 NA NA NA NA NA NA PLPPR5,missense_variant,p.Ala27Val,ENST00000672681,;PLPPR5,missense_variant,p.Ala27Val,ENST00000370188,NM_001010861.3;PLPPR5,missense_variant,p.Ala27Val,ENST00000263177,NM_001037317.2;AL445433.2,non_coding_transcript_exon_variant,,ENST00000425113,;AL445433.2,non_coding_transcript_exon_variant,,ENST00000658279,;AL445433.2,non_coding_transcript_exon_variant,,ENST00000660510,;AL445433.2,non_coding_transcript_exon_variant,,ENST00000662973,;AL445433.2,non_coding_transcript_exon_variant,,ENST00000647692,;PLPPR5,upstream_gene_variant,,ENST00000534652,;,regulatory_region_variant,,ENSR00000010508,;AL445433.1,upstream_gene_variant,,ENST00000457507,; A ENSG00000117598 ENST00000672681 Transcript missense_variant 441/4267 80/1140 27/379 A/V gCg/gTg rs1228426357,COSV54170206 1 NA -1 PLPPR5 HGNC HGNC:31703 protein_coding YES ENSP00000500930 A0A5F9ZI76.3 UPI001236C58A tolerated(0.21) possibly_damaging(0.895) 1/7 PANTHER:PTHR10165:SF17,PANTHER:PTHR10165,Transmembrane_helices:TMhelix NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE NA SNV NA NA 0,1 NA NA . CGC . 3540.6 NA NA NA NA NA NA NA NA NA 99004592 MFSD14A 64645 . GRCh38 chr1 100068514 100068514 + Missense_Mutation SNP C C G rs200151977 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.747C>G p.Ile249Met p.I249M ENST00000370152 7/12 NA NA NA NA NA NA MFSD14A,missense_variant,p.Ile249Met,ENST00000370152,NM_033055.3;AC118553.2,missense_variant,p.Ile472Met,ENST00000638792,;AC118553.2,missense_variant,p.Ile472Met,ENST00000639037,;AC093019.2,intron_variant,,ENST00000432294,;AC118553.2,3_prime_UTR_variant,,ENST00000639171,;AC118553.2,3_prime_UTR_variant,,ENST00000640357,;AC118553.2,3_prime_UTR_variant,,ENST00000638968,;AC118553.2,3_prime_UTR_variant,,ENST00000640238,;AC118553.2,3_prime_UTR_variant,,ENST00000639040,;AC118553.2,3_prime_UTR_variant,,ENST00000638779,; G ENSG00000156875 ENST00000370152 Transcript missense_variant 885/2779 747/1473 249/490 I/M atC/atG rs200151977 1 NA 1 MFSD14A HGNC HGNC:23363 protein_coding YES CCDS763.1 ENSP00000359171 Q96MC6.132 UPI0000049F99 NM_033055.3 deleterious(0.04) possibly_damaging(0.506) 7/12 Transmembrane_helices:TMhelix,PROSITE_profiles:PS50850,CDD:cd17387,PANTHER:PTHR23504:SF77,PANTHER:PTHR23504,Pfam:PF07690,Gene3D:1.20.1250.20,Superfamily:SSF103473 2e-04 NA NA NA NA 0.001 NA NA 0.0005814 NA NA NA NA MODERATE 1 SNV 1 NA NA NA . TCT . 2255.6 7.557e-05 6.152e-05 0.0002025 NA NA NA 9.672e-05 NA NA 100068514 S1PR1 1901 . GRCh38 chr1 101239747 101239747 + Missense_Mutation SNP C C T rs1419184073 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.763C>T p.Leu255Phe p.L255F ENST00000305352 2/2 NA NA NA NA NA NA S1PR1,missense_variant,p.Leu255Phe,ENST00000305352,NM_001320730.1,NM_001400.5;S1PR1,missense_variant,p.Leu255Phe,ENST00000475289,;S1PR1,missense_variant,p.Leu255Phe,ENST00000649383,;S1PR1,missense_variant,p.Leu255Phe,ENST00000648480,;S1PR1,downstream_gene_variant,,ENST00000475821,;AL109741.1,upstream_gene_variant,,ENST00000432195,;S1PR1,intron_variant,,ENST00000561748,;,regulatory_region_variant,,ENSR00000010731,;,regulatory_region_variant,,ENSR00000367012,; T ENSG00000170989 ENST00000305352 Transcript missense_variant 1007/2778 763/1149 255/382 L/F Ctc/Ttc rs1419184073,COSV59514811 1 NA 1 S1PR1 HGNC HGNC:3165 protein_coding YES CCDS777.1 ENSP00000305416 P21453.197 UPI0000050421 NM_001320730.1,NM_001400.5 deleterious(0.01) probably_damaging(1) 2/2 PDB-ENSP_mappings:3v2w.A,PDB-ENSP_mappings:3v2y.A,Transmembrane_helices:TMhelix,CDD:cd15346,Pfam:PF00001,Gene3D:1.20.1070.10,SMART:SM01381,Superfamily:SSF81321,PROSITE_profiles:PS50262,PANTHER:PTHR22750,PANTHER:PTHR22750:SF16,Prints:PR00237 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 1 NA 0,1 NA NA . GCT . 3730.6 NA NA NA NA NA NA NA NA NA 101239747 AMY2B 648740 . GRCh38 chr1 103572147 103572147 + Missense_Mutation SNP C C A novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.206C>A p.Pro69His p.P69H ENST00000361355 4/12 NA NA NA NA NA NA AMY2B,missense_variant,p.Pro69His,ENST00000361355,NM_020978.4;AMY2B,missense_variant,p.Pro69His,ENST00000610648,;AMY2B,missense_variant,p.Pro69His,ENST00000453959,;AMY2B,missense_variant,p.Pro69His,ENST00000435302,;AMY2B,non_coding_transcript_exon_variant,,ENST00000491397,;AMY2B,upstream_gene_variant,,ENST00000462971,;AMY2B,missense_variant,p.Pro69His,ENST00000477657,;ACTG1P4,downstream_gene_variant,,ENST00000425123,; A ENSG00000240038 ENST00000361355 Transcript missense_variant 822/2181 206/1536 69/511 P/H cCt/cAt 1 NA 1 AMY2B HGNC HGNC:478 protein_coding YES CCDS782.1 ENSP00000354610 P19961.190 UPI0000000CB1 NM_020978.4 deleterious(0.02) probably_damaging(0.994) 4/12 CDD:cd11317,PANTHER:PTHR43447:SF23,PANTHER:PTHR43447,Gene3D:3.20.20.80,SMART:SM00642,Superfamily:SSF51445 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CCT . 994.6 NA NA NA NA NA NA NA NA NA 103572147 FNDC7 163479 . GRCh38 chr1 108727891 108727891 + Missense_Mutation SNP G G A rs202035625 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1195G>A p.Glu399Lys p.E399K ENST00000370017 7/13 NA NA NA NA NA NA FNDC7,missense_variant,p.Glu399Lys,ENST00000370017,NM_001144937.3;FNDC7,missense_variant,p.Glu175Lys,ENST00000445274,; A ENSG00000143107 ENST00000370017 Transcript missense_variant 1221/3090 1195/2202 399/733 E/K Gaa/Aaa rs202035625,COSV99601002 1 NA 1 FNDC7 HGNC HGNC:26668 protein_coding YES CCDS44185.1 ENSP00000359034 Q5VTL7.120 UPI000187497A NM_001144937.3 deleterious(0.01) possibly_damaging(0.819) 7/13 PROSITE_profiles:PS50853,CDD:cd00063,PANTHER:PTHR47135,Gene3D:2.60.40.10,SMART:SM00060,Superfamily:SSF49265 NA NA NA NA NA NA NA 0.000227 0.0001163 0,1 NA NA NA NA MODERATE 1 SNV 5 NA 0,1 NA NA . CGA . 2330.6 0.000171 6.152e-05 5.782e-05 9.921e-05 NA NA 0.0002637 NA 0.000294 108727891 WDR47 22911 . GRCh38 chr1 109017519 109017519 + Frame_Shift_Del DEL T T - rs1557951659 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.241del p.Arg81GlyfsTer7 p.R81Gfs*7 ENST00000400794 3/15 NA NA NA NA NA NA WDR47,frameshift_variant,p.Arg81GlyfsTer7,ENST00000369965,NM_014969.5;WDR47,frameshift_variant,p.Arg81GlyfsTer7,ENST00000369962,NM_001142551.2;WDR47,frameshift_variant,p.Arg81GlyfsTer7,ENST00000400794,NM_001142550.1;WDR47,frameshift_variant,p.Arg8GlyfsTer7,ENST00000529074,;WDR47,frameshift_variant,p.Arg81GlyfsTer7,ENST00000528747,;WDR47,frameshift_variant,p.Arg81GlyfsTer7,ENST00000530772,;WDR47,intron_variant,,ENST00000357672,;WDR47,intron_variant,,ENST00000361054,;WDR47,intron_variant,,ENST00000531337,; - ENSG00000085433 ENST00000400794 Transcript frameshift_variant,splice_region_variant 375/4134 241/2784 81/927 R/X Agg/gg rs1557951659,COSV63058584 1 NA -1 WDR47 HGNC HGNC:29141 protein_coding YES CCDS44186.1 ENSP00000383599 O94967.162 UPI0001639B05 NM_001142550.1 3/15 PROSITE_profiles:PS50897,PANTHER:PTHR19863:SF5,PANTHER:PTHR19863,SMART:SM00668 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA HIGH 1 deletion 1 NA 0,1 NA NA . CCTT . 557.6 NA NA NA NA NA NA NA NA NA 109017518 CELSR2 1952 . GRCh38 chr1 109250164 109250164 + Silent SNP C C T rs1335086523 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.85C>T p.Leu29= p.L29= ENST00000271332 1/34 NA NA NA NA NA NA CELSR2,synonymous_variant,p.Leu29=,ENST00000271332,NM_001408.3;,regulatory_region_variant,,ENSR00000011052,; T ENSG00000143126 ENST00000271332 Transcript synonymous_variant 626/11015 85/8772 29/2923 L Cta/Tta rs1335086523 1 NA 1 CELSR2 HGNC HGNC:3231 protein_coding YES CCDS796.1 ENSP00000271332 Q9HCU4.180 UPI00000015B6 NM_001408.3 1/34 Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . ACT . 1504.6 NA NA NA NA NA NA NA NA NA 109250164 CELSR2 1952 . GRCh38 chr1 109251756 109251756 + Silent SNP A A T novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1677A>T p.Thr559= p.T559= ENST00000271332 1/34 NA NA NA NA NA NA CELSR2,synonymous_variant,p.Thr559=,ENST00000271332,NM_001408.3; T ENSG00000143126 ENST00000271332 Transcript synonymous_variant 2218/11015 1677/8772 559/2923 T acA/acT 1 NA 1 CELSR2 HGNC HGNC:3231 protein_coding YES CCDS796.1 ENSP00000271332 Q9HCU4.180 UPI00000015B6 NM_001408.3 1/34 CDD:cd11304,Gene3D:2.60.40.60,Pfam:PF00028,SMART:SM00112,Superfamily:SSF49313,PROSITE_profiles:PS50268,PANTHER:PTHR24026:SF32,PANTHER:PTHR24026 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . CAG . 5896.6 NA NA NA NA NA NA NA NA NA 109251756 SORT1 6272 . GRCh38 chr1 109317881 109317881 + Missense_Mutation SNP C C T rs1239877805 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2113G>A p.Gly705Arg p.G705R ENST00000256637 16/20 NA NA NA NA NA NA SORT1,missense_variant,p.Gly568Arg,ENST00000538502,NM_001205228.1;SORT1,missense_variant,p.Gly705Arg,ENST00000256637,NM_002959.7;SORT1,upstream_gene_variant,,ENST00000485149,; T ENSG00000134243 ENST00000256637 Transcript missense_variant 2139/6990 2113/2496 705/831 G/R Gga/Aga rs1239877805 1 NA -1 SORT1 HGNC HGNC:11186 protein_coding YES CCDS798.1 ENSP00000256637 Q99523.197 UPI0000074182 NM_002959.7 deleterious(0) probably_damaging(1) 16/20 PDB-ENSP_mappings:3f6k.A,PDB-ENSP_mappings:4msl.A,PDB-ENSP_mappings:4n7e.A,PDB-ENSP_mappings:4po7.A,PDB-ENSP_mappings:5mrh.A,PDB-ENSP_mappings:5mri.A,PDB-ENSP_mappings:6eho.A,PANTHER:PTHR12106:SF41,PANTHER:PTHR12106,Gene3D:2.10.70.90,Pfam:PF15901,SMART:SM00602 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . CCG . 2231.6 NA NA NA NA NA NA NA NA NA 109317881 CEPT1 10390 . GRCh38 chr1 111161214 111161214 + Frame_Shift_Del DEL T T - novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.553del p.Cys185ValfsTer26 p.C185Vfs*26 ENST00000545121 4/9 NA NA NA NA NA NA CEPT1,frameshift_variant,p.Cys185ValfsTer26,ENST00000545121,NM_001007794.2;CEPT1,frameshift_variant,p.Cys185ValfsTer26,ENST00000357172,NM_001330743.2,NM_006090.5;CEPT1,frameshift_variant,p.Cys185ValfsTer26,ENST00000615636,;CEPT1,non_coding_transcript_exon_variant,,ENST00000478042,;CEPT1,non_coding_transcript_exon_variant,,ENST00000498239,;CEPT1,non_coding_transcript_exon_variant,,ENST00000460443,;CEPT1,downstream_gene_variant,,ENST00000476865,;CEPT1,downstream_gene_variant,,ENST00000480324,; - ENSG00000134255 ENST00000545121 Transcript frameshift_variant 755/2251 547/1251 183/416 F/X Ttt/tt 1 NA 1 CEPT1 HGNC HGNC:24289 protein_coding YES CCDS830.1 ENSP00000441980 Q9Y6K0.156 A1PL14.3 UPI0000062325 NM_001007794.2 4/9 Transmembrane_helices:TMhelix,PANTHER:PTHR10414,PANTHER:PTHR10414:SF27,PIRSF:PIRSF015665,Gene3D:1.20.120.1760 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 6 NA NA . TGTT . 2539.6 NA NA NA NA NA NA NA NA NA 111161213 WDR77 79084 . GRCh38 chr1 111448782 111448782 + Silent SNP G G T novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.138C>A p.Ala46= p.A46= ENST00000235090 2/10 NA NA NA NA NA NA WDR77,synonymous_variant,p.Ala46=,ENST00000235090,NM_001317064.1,NM_001317062.1,NM_001317063.2,NM_024102.4;ATP5PB,upstream_gene_variant,,ENST00000369722,NM_001688.5;WDR77,upstream_gene_variant,,ENST00000449340,;ATP5PB,upstream_gene_variant,,ENST00000483994,;Y_RNA,downstream_gene_variant,,ENST00000363020,;WDR77,non_coding_transcript_exon_variant,,ENST00000459665,;ATP5PB,upstream_gene_variant,,ENST00000369721,;ATP5PB,upstream_gene_variant,,ENST00000464154,;ATP5PB,upstream_gene_variant,,ENST00000468818,;ATP5PB,upstream_gene_variant,,ENST00000493119,;WDR77,upstream_gene_variant,,ENST00000497278,;,regulatory_region_variant,,ENSR00000011365,; T ENSG00000116455 ENST00000235090 Transcript synonymous_variant 225/2456 138/1029 46/342 A gcC/gcA 1 NA -1 WDR77 HGNC HGNC:29652 protein_coding YES CCDS835.1 ENSP00000235090 Q9BQA1.175 A0A024R0H7.43 UPI0000047AC6 NM_001317064.1,NM_001317062.1,NM_001317063.2,NM_024102.4 2/10 PDB-ENSP_mappings:4gqb.B,PDB-ENSP_mappings:4x60.B,PDB-ENSP_mappings:4x61.B,PDB-ENSP_mappings:4x63.B,PDB-ENSP_mappings:5c9z.B,PDB-ENSP_mappings:5emj.B,PDB-ENSP_mappings:5emk.B,PDB-ENSP_mappings:5eml.B,PDB-ENSP_mappings:5emm.B,PDB-ENSP_mappings:5fa5.B,PDB-ENSP_mappings:6ckc.B,PDB-ENSP_mappings:6k1s.B,PDB-ENSP_mappings:6rll.B,Gene3D:2.130.10.10,PANTHER:PTHR19924:SF28,PANTHER:PTHR19924,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . AGG . 2214.6 NA NA NA NA NA NA NA NA NA 111448782 PPM1J 333926 . GRCh38 chr1 112712744 112712744 + Missense_Mutation SNP C C T rs1434626270 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.729G>A p.Met243Ile p.M243I ENST00000309276 3/10 NA NA NA NA NA NA PPM1J,missense_variant,p.Met37Ile,ENST00000464951,;PPM1J,missense_variant,p.Met243Ile,ENST00000309276,NM_005167.5;AL603832.3,upstream_gene_variant,,ENST00000605933,;AL603832.3,upstream_gene_variant,,ENST00000606505,;AL603832.2,upstream_gene_variant,,ENST00000566195,;AL603832.3,upstream_gene_variant,,ENST00000471038,;PPM1J,missense_variant,p.Met228Ile,ENST00000471106,;PPM1J,splice_region_variant,,ENST00000482367,;PPM1J,downstream_gene_variant,,ENST00000486709,;AL603832.3,upstream_gene_variant,,ENST00000606954,;AL603832.3,upstream_gene_variant,,ENST00000607158,; T ENSG00000155367 ENST00000309276 Transcript missense_variant,splice_region_variant 905/1863 729/1518 243/505 M/I atG/atA rs1434626270,COSV58552237 1 NA -1 PPM1J HGNC HGNC:20785 protein_coding YES CCDS855.2 ENSP00000308926 Q5JR12.115 UPI000013EE69 NM_005167.5 deleterious(0.01) probably_damaging(0.992) 3/10 PROSITE_profiles:PS51746,CDD:cd00143,PANTHER:PTHR13832,PANTHER:PTHR13832:SF305,Pfam:PF00481,SMART:SM00332,Superfamily:SSF81606 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 1 NA 0,1 NA NA . CCA . 2421.6 NA NA NA NA NA NA NA NA NA 112712744 NGF 4803 . GRCh38 chr1 115286271 115286271 + Frame_Shift_Del DEL A A - novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.525del p.Phe175LeufsTer37 p.F175Lfs*37 ENST00000676038 4/4 NA NA NA NA NA NA NGF,frameshift_variant,p.Phe175LeufsTer37,ENST00000676038,;NGF,frameshift_variant,p.Phe175LeufsTer37,ENST00000369512,NM_002506.3;NGF,frameshift_variant,p.Phe175LeufsTer37,ENST00000675637,;NGF-AS1,intron_variant,,ENST00000425449,;AL049825.1,upstream_gene_variant,,ENST00000649888,; - ENSG00000134259 ENST00000676038 Transcript frameshift_variant 801/1155 525/726 175/241 F/X ttT/tt 1 NA -1 NGF HGNC HGNC:7808 protein_coding YES CCDS882.1 ENSP00000502380 UPI0000039B11 4/4 PROSITE_profiles:PS50270,PANTHER:PTHR11589,PANTHER:PTHR11589:SF10,PIRSF:PIRSF001789,Gene3D:2.10.90.10,Pfam:PF00243,SMART:SM00140,Superfamily:SSF57501,Prints:PR00268 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH NA deletion NA NA NA 1 . TCAA . 3304.6 NA NA NA NA NA NA NA NA NA 115286270 HSD3B2 3284 . GRCh38 chr1 119422020 119422020 + Frame_Shift_Del DEL A A - novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.524del p.Asn175MetfsTer10 p.N175Mfs*10 ENST00000543831 4/4 NA NA NA NA NA NA HSD3B2,frameshift_variant,p.Asn175MetfsTer10,ENST00000543831,NM_001166120.1;HSD3B2,frameshift_variant,p.Asn175MetfsTer10,ENST00000369416,NM_000198.4;HSD3B2,frameshift_variant,p.Asn175MetfsTer10,ENST00000433745,;HSD3B2,non_coding_transcript_exon_variant,,ENST00000448448,;HSD3B2,downstream_gene_variant,,ENST00000443865,;HSD3B2,downstream_gene_variant,,ENST00000471656,; - ENSG00000203859 ENST00000543831 Transcript frameshift_variant 768/1783 519/1119 173/372 L/X ctA/ct 1 NA 1 HSD3B2 HGNC HGNC:5218 protein_coding YES CCDS902.1 ENSP00000445122 P26439.207 A0A024R0F9.48 UPI0000001C6C NM_001166120.1 4/4 CDD:cd09811,PANTHER:PTHR10366,PANTHER:PTHR10366:SF378,Pfam:PF01073,Gene3D:3.40.50.720,Superfamily:SSF51735 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 3 5 NA 1 . CTAA . 2538.6 NA NA NA NA NA NA NA NA NA 119422019 ZNF697 90874 . GRCh38 chr1 119623615 119623615 + Missense_Mutation SNP G G C rs1448049228 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.728C>G p.Ala243Gly p.A243G ENST00000421812 3/3 NA NA NA NA NA NA ZNF697,missense_variant,p.Ala243Gly,ENST00000421812,NM_001080470.2; C ENSG00000143067 ENST00000421812 Transcript missense_variant 1341/5579 728/1638 243/545 A/G gCg/gGg rs1448049228 1 NA -1 ZNF697 HGNC HGNC:32034 protein_coding YES CCDS44202.1 ENSP00000396857 Q5TEC3.126 UPI0000DD78D7 NM_001080470.2 tolerated(1) benign(0.001) 3/3 Low_complexity_(Seg):seg,PANTHER:PTHR23226,PANTHER:PTHR23226:SF207 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 3 NA NA NA . CGC . 34.6 5.906e-05 NA 0.000178 NA NA NA NA NA 0.0001563 119623615 ZNF697 90874 . GRCh38 chr1 119623618 119623618 + Missense_Mutation SNP A A C rs1190863117 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.725T>G p.Val242Gly p.V242G ENST00000421812 3/3 NA NA NA NA NA NA ZNF697,missense_variant,p.Val242Gly,ENST00000421812,NM_001080470.2; C ENSG00000143067 ENST00000421812 Transcript missense_variant 1338/5579 725/1638 242/545 V/G gTg/gGg rs1190863117 1 NA -1 ZNF697 HGNC HGNC:32034 protein_coding YES CCDS44202.1 ENSP00000396857 Q5TEC3.126 UPI0000DD78D7 NM_001080470.2 tolerated(0.37) benign(0) 3/3 Low_complexity_(Seg):seg,PANTHER:PTHR23226,PANTHER:PTHR23226:SF207 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 3 NA NA NA . CAC . 34.6 NA NA NA NA NA NA NA NA NA 119623618 NBPF26 0 . GRCh38 chr1 120793448 120793448 + Missense_Mutation SNP A A T rs1387085969 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.703A>T p.Thr235Ser p.T235S ENST00000620612 4/30 NA NA NA NA NA NA NBPF26,missense_variant,p.Thr235Ser,ENST00000620612,;NBPF26,missense_variant,p.Thr179Ser,ENST00000651062,;NOTCH2NLR,missense_variant,p.Thr235Ser,ENST00000624419,;NBPF26,5_prime_UTR_variant,,ENST00000652763,;,regulatory_region_variant,,ENSR00000012511,; T ENSG00000273136 ENST00000620612 Transcript missense_variant 932/4602 703/4347 235/1448 T/S Acc/Tcc rs1387085969 1 NA 1 NBPF26 HGNC HGNC:49571 protein_coding YES ENSP00000481542 A0A087WY62.42 UPI0007E52D3F deleterious_low_confidence(0) unknown(0) 4/30 PROSITE_profiles:PS50026,Gene3D:2.10.25.10,SMART:SM00181 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . CAC . 7847.6 NA NA NA NA NA NA NA NA NA 120793448 NBPF26 0 . GRCh38 chr1 120805654 120805654 + Missense_Mutation SNP G G C rs1334818792 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.850G>C p.Glu284Gln p.E284Q ENST00000620612 5/30 NA NA NA NA NA NA NBPF26,missense_variant,p.Glu22Gln,ENST00000652444,NM_001351372.1;NBPF26,missense_variant,p.Glu284Gln,ENST00000620612,;NBPF26,missense_variant,p.Glu22Gln,ENST00000617913,;NBPF26,missense_variant,p.Glu22Gln,ENST00000611287,;NBPF26,missense_variant,p.Glu22Gln,ENST00000615145,;NBPF26,missense_variant,p.Glu22Gln,ENST00000611702,;NBPF26,missense_variant,p.Glu22Gln,ENST00000652763,;NBPF26,5_prime_UTR_variant,,ENST00000619748,;NBPF26,intron_variant,,ENST00000615219,;NBPF26,intron_variant,,ENST00000651062,;,regulatory_region_variant,,ENSR00000253960,;,regulatory_region_variant,,ENSR00000930090,; C ENSG00000273136 ENST00000620612 Transcript missense_variant 1079/4602 850/4347 284/1448 E/Q Gag/Cag rs1334818792 1 NA 1 NBPF26 HGNC HGNC:49571 protein_coding YES ENSP00000481542 A0A087WY62.42 UPI0007E52D3F tolerated(0.8) possibly_damaging(0.89) 5/30 PANTHER:PTHR14199,PANTHER:PTHR14199:SF35 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . CGA . 5143.6 NA NA NA NA NA NA NA NA NA 120805654 NBPF26 0 . GRCh38 chr1 120808586 120808586 + Missense_Mutation SNP C C T rs1553270477 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1106C>T p.Thr369Met p.T369M ENST00000620612 7/30 NA NA NA NA NA NA NBPF26,missense_variant,p.Thr107Met,ENST00000652444,NM_001351372.1;NBPF26,missense_variant,p.Thr369Met,ENST00000620612,;NBPF26,missense_variant,p.Thr107Met,ENST00000617913,;NBPF26,missense_variant,p.Thr107Met,ENST00000611287,;NBPF26,missense_variant,p.Thr72Met,ENST00000615145,;NBPF26,missense_variant,p.Thr243Met,ENST00000651062,;NBPF26,missense_variant,p.Thr107Met,ENST00000611702,;NBPF26,5_prime_UTR_variant,,ENST00000619748,;NBPF26,intron_variant,,ENST00000615219,;NBPF26,downstream_gene_variant,,ENST00000652763,; T ENSG00000273136 ENST00000620612 Transcript missense_variant 1335/4602 1106/4347 369/1448 T/M aCg/aTg rs1553270477 1 NA 1 NBPF26 HGNC HGNC:49571 protein_coding YES ENSP00000481542 A0A087WY62.42 UPI0007E52D3F deleterious(0) probably_damaging(0.982) 7/30 Coiled-coils_(Ncoils):Coil,PANTHER:PTHR14199,PANTHER:PTHR14199:SF35 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . ACG . 221.6 NA NA NA NA NA NA NA NA NA 120808586 NBPF26 0 . GRCh38 chr1 120809853 120809853 + Missense_Mutation SNP A A C rs1349857272 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1322A>C p.Asp441Ala p.D441A ENST00000620612 8/30 NA NA NA NA NA NA NBPF26,missense_variant,p.Asp179Ala,ENST00000652444,NM_001351372.1;NBPF26,missense_variant,p.Asp441Ala,ENST00000620612,;NBPF26,missense_variant,p.Asp179Ala,ENST00000617913,;NBPF26,missense_variant,p.Asp179Ala,ENST00000611287,;NBPF26,missense_variant,p.Asp144Ala,ENST00000615145,;NBPF26,missense_variant,p.Asp315Ala,ENST00000651062,;NBPF26,missense_variant,p.Asp179Ala,ENST00000611702,;NBPF26,5_prime_UTR_variant,,ENST00000619748,;NBPF26,intron_variant,,ENST00000615219,;NBPF26,upstream_gene_variant,,ENST00000609741,;NBPF26,downstream_gene_variant,,ENST00000652763,;,regulatory_region_variant,,ENSR00000012517,; C ENSG00000273136 ENST00000620612 Transcript missense_variant 1551/4602 1322/4347 441/1448 D/A gAt/gCt rs1349857272 1 NA 1 NBPF26 HGNC HGNC:49571 protein_coding YES ENSP00000481542 A0A087WY62.42 UPI0007E52D3F tolerated(0.83) benign(0.003) 8/30 Low_complexity_(Seg):seg,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite,PROSITE_profiles:PS51316,PANTHER:PTHR14199,PANTHER:PTHR14199:SF35,Pfam:PF06758 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . GAT . 1215.6 NA NA NA NA NA NA NA NA NA 120809853 NBPF26 0 . GRCh38 chr1 120809863 120809863 + Silent SNP A A G rs1553270737 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1332A>G p.Val444= p.V444= ENST00000620612 8/30 NA NA NA NA NA NA NBPF26,synonymous_variant,p.Val182=,ENST00000652444,NM_001351372.1;NBPF26,synonymous_variant,p.Val444=,ENST00000620612,;NBPF26,synonymous_variant,p.Val182=,ENST00000617913,;NBPF26,synonymous_variant,p.Val182=,ENST00000611287,;NBPF26,synonymous_variant,p.Val147=,ENST00000615145,;NBPF26,synonymous_variant,p.Val318=,ENST00000651062,;NBPF26,synonymous_variant,p.Val182=,ENST00000611702,;NBPF26,5_prime_UTR_variant,,ENST00000619748,;NBPF26,intron_variant,,ENST00000615219,;NBPF26,upstream_gene_variant,,ENST00000609741,;NBPF26,downstream_gene_variant,,ENST00000652763,;,regulatory_region_variant,,ENSR00000012517,; G ENSG00000273136 ENST00000620612 Transcript synonymous_variant 1561/4602 1332/4347 444/1448 V gtA/gtG rs1553270737 1 NA 1 NBPF26 HGNC HGNC:49571 protein_coding YES ENSP00000481542 A0A087WY62.42 UPI0007E52D3F 8/30 Low_complexity_(Seg):seg,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite,PROSITE_profiles:PS51316,PANTHER:PTHR14199,PANTHER:PTHR14199:SF35,Pfam:PF06758,SMART:SM01148 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . TAC . 1185.6 NA NA NA NA NA NA NA NA NA 120809863 NBPF26 0 . GRCh38 chr1 120809865 120809865 + Missense_Mutation SNP T T G rs1159820458 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1334T>G p.Leu445Arg p.L445R ENST00000620612 8/30 NA NA NA NA NA NA NBPF26,missense_variant,p.Leu183Arg,ENST00000652444,NM_001351372.1;NBPF26,missense_variant,p.Leu445Arg,ENST00000620612,;NBPF26,missense_variant,p.Leu183Arg,ENST00000617913,;NBPF26,missense_variant,p.Leu183Arg,ENST00000611287,;NBPF26,missense_variant,p.Leu148Arg,ENST00000615145,;NBPF26,missense_variant,p.Leu319Arg,ENST00000651062,;NBPF26,missense_variant,p.Leu183Arg,ENST00000611702,;NBPF26,5_prime_UTR_variant,,ENST00000619748,;NBPF26,intron_variant,,ENST00000615219,;NBPF26,upstream_gene_variant,,ENST00000609741,;NBPF26,downstream_gene_variant,,ENST00000652763,;,regulatory_region_variant,,ENSR00000012517,; G ENSG00000273136 ENST00000620612 Transcript missense_variant 1563/4602 1334/4347 445/1448 L/R cTg/cGg rs1159820458 1 NA 1 NBPF26 HGNC HGNC:49571 protein_coding YES ENSP00000481542 A0A087WY62.42 UPI0007E52D3F tolerated(0.4) benign(0.177) 8/30 Low_complexity_(Seg):seg,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite,PROSITE_profiles:PS51316,PANTHER:PTHR14199,PANTHER:PTHR14199:SF35,Pfam:PF06758,SMART:SM01148 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . CTG . 1200.6 NA NA NA NA NA NA NA NA NA 120809865 NBPF26 0 . GRCh38 chr1 120809867 120809867 + Missense_Mutation SNP G G A rs1183412097 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1336G>A p.Glu446Lys p.E446K ENST00000620612 8/30 NA NA NA NA NA NA NBPF26,missense_variant,p.Glu184Lys,ENST00000652444,NM_001351372.1;NBPF26,missense_variant,p.Glu446Lys,ENST00000620612,;NBPF26,missense_variant,p.Glu184Lys,ENST00000617913,;NBPF26,missense_variant,p.Glu184Lys,ENST00000611287,;NBPF26,missense_variant,p.Glu149Lys,ENST00000615145,;NBPF26,missense_variant,p.Glu320Lys,ENST00000651062,;NBPF26,missense_variant,p.Glu184Lys,ENST00000611702,;NBPF26,5_prime_UTR_variant,,ENST00000619748,;NBPF26,intron_variant,,ENST00000615219,;NBPF26,upstream_gene_variant,,ENST00000609741,;NBPF26,downstream_gene_variant,,ENST00000652763,;,regulatory_region_variant,,ENSR00000012517,; A ENSG00000273136 ENST00000620612 Transcript missense_variant 1565/4602 1336/4347 446/1448 E/K Gaa/Aaa rs1183412097 1 NA 1 NBPF26 HGNC HGNC:49571 protein_coding YES ENSP00000481542 A0A087WY62.42 UPI0007E52D3F tolerated(0.3) benign(0.161) 8/30 Low_complexity_(Seg):seg,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite,PROSITE_profiles:PS51316,PANTHER:PTHR14199,PANTHER:PTHR14199:SF35,Pfam:PF06758,SMART:SM01148 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . GGA . 1101.6 NA NA NA NA NA NA NA NA NA 120809867 NBPF26 0 . GRCh38 chr1 120810372 120810372 + Missense_Mutation SNP A A G rs1553270812 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1378A>G p.Lys460Glu p.K460E ENST00000620612 9/30 NA NA NA NA NA NA NBPF26,missense_variant,p.Lys198Glu,ENST00000652444,NM_001351372.1;NBPF26,missense_variant,p.Lys460Glu,ENST00000620612,;NBPF26,missense_variant,p.Lys198Glu,ENST00000617913,;NBPF26,missense_variant,p.Lys198Glu,ENST00000611287,;NBPF26,missense_variant,p.Lys163Glu,ENST00000615145,;NBPF26,missense_variant,p.Lys334Glu,ENST00000651062,;NBPF26,5_prime_UTR_variant,,ENST00000619748,;NBPF26,intron_variant,,ENST00000611702,;NBPF26,intron_variant,,ENST00000615219,;NBPF26,upstream_gene_variant,,ENST00000609741,;NBPF26,downstream_gene_variant,,ENST00000652763,; G ENSG00000273136 ENST00000620612 Transcript missense_variant 1607/4602 1378/4347 460/1448 K/E Aaa/Gaa rs1553270812 1 NA 1 NBPF26 HGNC HGNC:49571 protein_coding YES ENSP00000481542 A0A087WY62.42 UPI0007E52D3F tolerated(1) benign(0.022) 9/30 MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite,PROSITE_profiles:PS51316,PANTHER:PTHR14199,PANTHER:PTHR14199:SF35,Pfam:PF06758,SMART:SM01148 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . CAA . 1154.6 NA NA NA NA NA NA NA NA NA 120810372 NBPF26 0 . GRCh38 chr1 120816714 120816714 + Missense_Mutation SNP G G C rs1239734533 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2258G>C p.Cys753Ser p.C753S ENST00000620612 14/30 NA NA NA NA NA NA NBPF26,missense_variant,p.Cys491Ser,ENST00000652444,NM_001351372.1;NBPF26,missense_variant,p.Cys753Ser,ENST00000620612,;NBPF26,missense_variant,p.Cys151Ser,ENST00000609741,;NBPF26,missense_variant,p.Cys151Ser,ENST00000619748,;NBPF26,missense_variant,p.Cys491Ser,ENST00000617913,;NBPF26,missense_variant,p.Cys491Ser,ENST00000611287,;NBPF26,missense_variant,p.Cys456Ser,ENST00000615145,;NBPF26,missense_variant,p.Cys627Ser,ENST00000651062,;NBPF26,missense_variant,p.Cys220Ser,ENST00000615219,;NBPF26,missense_variant,p.Cys220Ser,ENST00000611702,; C ENSG00000273136 ENST00000620612 Transcript missense_variant 2487/4602 2258/4347 753/1448 C/S tGc/tCc rs1239734533 1 NA 1 NBPF26 HGNC HGNC:49571 protein_coding YES ENSP00000481542 A0A087WY62.42 UPI0007E52D3F tolerated(1) benign(0.007) 14/30 PROSITE_profiles:PS51316,PANTHER:PTHR14199,PANTHER:PTHR14199:SF35,Pfam:PF06758,SMART:SM01148 NA NA NA NA NA NA NA 0.08966 0.1864 NA NA NA NA MODERATE 1 SNV 5 NA NA NA . TGC . 2656.6 NA NA NA NA NA NA NA NA NA 120816714 NBPF26 0 . GRCh38 chr1 120822137 120822137 + Silent SNP C C A novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2457C>A p.Pro819= p.P819= ENST00000620612 16/30 NA NA NA NA NA NA NBPF26,synonymous_variant,p.Pro557=,ENST00000652444,NM_001351372.1;NBPF26,synonymous_variant,p.Pro819=,ENST00000620612,;NBPF26,synonymous_variant,p.Pro217=,ENST00000609741,;NBPF26,synonymous_variant,p.Pro217=,ENST00000619748,;NBPF26,synonymous_variant,p.Pro557=,ENST00000617913,;NBPF26,synonymous_variant,p.Pro557=,ENST00000611287,;NBPF26,synonymous_variant,p.Pro693=,ENST00000651062,;NBPF26,synonymous_variant,p.Pro286=,ENST00000611702,;NBPF26,intron_variant,,ENST00000615145,;NBPF26,intron_variant,,ENST00000615219,; A ENSG00000273136 ENST00000620612 Transcript synonymous_variant 2686/4602 2457/4347 819/1448 P ccC/ccA 1 NA 1 NBPF26 HGNC HGNC:49571 protein_coding YES ENSP00000481542 A0A087WY62.42 UPI0007E52D3F 16/30 Low_complexity_(Seg):seg,MobiDB_lite:mobidb-lite,PROSITE_profiles:PS51316,PANTHER:PTHR14199,PANTHER:PTHR14199:SF35,Pfam:PF06758,SMART:SM01148 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . CCC . 2262.6 NA NA NA NA NA NA NA NA NA 120822137 NBPF26 0 . GRCh38 chr1 120822191 120822191 + Silent SNP A A G rs1418103463 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2511A>G p.Leu837= p.L837= ENST00000620612 16/30 NA NA NA NA NA NA NBPF26,synonymous_variant,p.Leu575=,ENST00000652444,NM_001351372.1;NBPF26,synonymous_variant,p.Leu837=,ENST00000620612,;NBPF26,synonymous_variant,p.Leu235=,ENST00000609741,;NBPF26,synonymous_variant,p.Leu235=,ENST00000619748,;NBPF26,synonymous_variant,p.Leu575=,ENST00000617913,;NBPF26,synonymous_variant,p.Leu575=,ENST00000611287,;NBPF26,synonymous_variant,p.Leu304=,ENST00000611702,;NBPF26,intron_variant,,ENST00000615145,;NBPF26,intron_variant,,ENST00000615219,;NBPF26,intron_variant,,ENST00000651062,; G ENSG00000273136 ENST00000620612 Transcript synonymous_variant 2740/4602 2511/4347 837/1448 L ttA/ttG rs1418103463 1 NA 1 NBPF26 HGNC HGNC:49571 protein_coding YES ENSP00000481542 A0A087WY62.42 UPI0007E52D3F 16/30 PROSITE_profiles:PS51316,PANTHER:PTHR14199,PANTHER:PTHR14199:SF35,Pfam:PF06758,SMART:SM01148 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . TAG . 1533.6 NA NA NA NA NA NA NA NA NA 120822191 NBPF26 0 . GRCh38 chr1 120824137 120824137 + Missense_Mutation SNP G G A rs1553272495 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2803G>A p.Asp935Asn p.D935N ENST00000620612 18/30 NA NA NA NA NA NA NBPF26,missense_variant,p.Asp673Asn,ENST00000652444,NM_001351372.1;NBPF26,missense_variant,p.Asp935Asn,ENST00000620612,;NBPF26,missense_variant,p.Asp333Asn,ENST00000609741,;NBPF26,missense_variant,p.Asp333Asn,ENST00000619748,;NBPF26,missense_variant,p.Asp673Asn,ENST00000617913,;NBPF26,intron_variant,,ENST00000611287,;NBPF26,intron_variant,,ENST00000611702,;NBPF26,intron_variant,,ENST00000615145,;NBPF26,intron_variant,,ENST00000615219,;NBPF26,intron_variant,,ENST00000651062,; A ENSG00000273136 ENST00000620612 Transcript missense_variant 3032/4602 2803/4347 935/1448 D/N Gac/Aac rs1553272495 1 NA 1 NBPF26 HGNC HGNC:49571 protein_coding YES ENSP00000481542 A0A087WY62.42 UPI0007E52D3F tolerated(0.08) possibly_damaging(0.55) 18/30 PROSITE_profiles:PS51316,PANTHER:PTHR14199,PANTHER:PTHR14199:SF35,SMART:SM01148 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . TGA . 490.6 NA NA NA NA NA NA NA NA NA 120824137 NBPF26 0 . GRCh38 chr1 120833632 120833632 + Missense_Mutation SNP G G A rs1158166114 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3401G>A p.Gly1134Glu p.G1134E ENST00000620612 24/30 NA NA NA NA NA NA NBPF26,missense_variant,p.Gly872Glu,ENST00000652444,NM_001351372.1;NBPF26,missense_variant,p.Gly1134Glu,ENST00000620612,;NBPF26,missense_variant,p.Gly532Glu,ENST00000609741,;NBPF26,missense_variant,p.Gly727Glu,ENST00000651062,;NBPF26,3_prime_UTR_variant,,ENST00000615145,;NBPF26,3_prime_UTR_variant,,ENST00000615219,;NBPF26,intron_variant,,ENST00000611287,;NBPF26,intron_variant,,ENST00000611702,;NBPF26,intron_variant,,ENST00000617913,;NBPF26,intron_variant,,ENST00000619748,; A ENSG00000273136 ENST00000620612 Transcript missense_variant 3630/4602 3401/4347 1134/1448 G/E gGg/gAg rs1158166114 1 NA 1 NBPF26 HGNC HGNC:49571 protein_coding YES ENSP00000481542 A0A087WY62.42 UPI0007E52D3F tolerated(1) unknown(0) 24/30 PROSITE_profiles:PS51316,PANTHER:PTHR14199,PANTHER:PTHR14199,PANTHER:PTHR14199:SF35,PANTHER:PTHR14199:SF35,Pfam:PF06758,SMART:SM01148 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . GGG . 2403.6 NA NA NA NA NA NA NA NA NA 120833632 NBPF15 284565 . GRCh38 chr1 144424808 144424808 + Silent SNP C C T rs200574565 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1545G>A p.Leu515= p.L515= ENST00000577412 19/21 NA NA NA NA NA NA NBPF15,synonymous_variant,p.Leu515=,ENST00000577412,NM_001170755.2;NBPF15,synonymous_variant,p.Leu515=,ENST00000488031,;NBPF15,synonymous_variant,p.Leu515=,ENST00000581897,NM_173638.4;NBPF15,downstream_gene_variant,,ENST00000584793,; T ENSG00000266338 ENST00000577412 Transcript synonymous_variant 2612/4707 1545/2013 515/670 L ctG/ctA rs200574565 1 NA -1 NBPF15 HGNC HGNC:28791 protein_coding YES CCDS72852.1 ENSP00000462600 Q8N660.126 UPI000013D89F NM_001170755.2 19/21 PROSITE_profiles:PS51316,PANTHER:PTHR14199:SF35,PANTHER:PTHR14199:SF35,PANTHER:PTHR14199,PANTHER:PTHR14199,Pfam:PF06758,SMART:SM01148 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . CCA . 1106.6 4.858e-05 0.0003309 NA NA NA NA NA NA NA 144424808 NBPF15 284565 . GRCh38 chr1 144426381 144426381 + Silent SNP C C T rs372610539 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1335G>A p.Ser445= p.S445= ENST00000577412 17/21 NA NA NA NA NA NA NBPF15,synonymous_variant,p.Ser445=,ENST00000577412,NM_001170755.2;NBPF15,synonymous_variant,p.Ser445=,ENST00000488031,;NBPF15,synonymous_variant,p.Ser445=,ENST00000581897,NM_173638.4;NBPF15,non_coding_transcript_exon_variant,,ENST00000584793,; T ENSG00000266338 ENST00000577412 Transcript synonymous_variant 2402/4707 1335/2013 445/670 S tcG/tcA rs372610539 1 NA -1 NBPF15 HGNC HGNC:28791 protein_coding YES CCDS72852.1 ENSP00000462600 Q8N660.126 UPI000013D89F NM_001170755.2 17/21 PROSITE_profiles:PS51316,PANTHER:PTHR14199:SF35,PANTHER:PTHR14199,Pfam:PF06758,SMART:SM01148 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . TCG . 7641.6 NA NA NA NA NA NA NA NA NA 144426381 NBPF20 728841 . GRCh38 chr1 145310812 145310812 + Silent SNP C C T rs1421359710 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.13731G>A p.Leu4577= p.L4577= ENST00000369373 114/138 NA NA NA NA NA NA NBPF20,synonymous_variant,p.Leu4577=,ENST00000369373,;NBPF20,synonymous_variant,p.Leu4232=,ENST00000392971,NM_001278267.1;NBPF20,synonymous_variant,p.Leu678=,ENST00000622803,;NBPF20,intron_variant,,ENST00000594479,;NBPF20,intron_variant,,ENST00000620821,; T ENSG00000162825 ENST00000369373 Transcript synonymous_variant 13924/18760 13731/16941 4577/5646 L ctG/ctA rs1421359710 1 NA -1 NBPF20 HGNC HGNC:32000 protein_coding YES ENSP00000358380 H7BY70.44 UPI0004620AF1 114/138 PROSITE_profiles:PS51316,PANTHER:PTHR14199,PANTHER:PTHR14199:SF35,Pfam:PF06758,SMART:SM01148 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . CCA . 202.6 NA NA NA NA NA NA NA NA NA 145310812 NBPF20 728841 . GRCh38 chr1 145402267 145402267 + Silent SNP A A G rs9441240 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.393T>C p.Leu131= p.L131= ENST00000369373 4/138 NA NA NA NA NA NA NBPF20,synonymous_variant,p.Leu131=,ENST00000369373,;NBPF20,synonymous_variant,p.Leu62=,ENST00000622803,;NBPF20,synonymous_variant,p.Leu62=,ENST00000594479,;NBPF20,synonymous_variant,p.Leu131=,ENST00000620821,;NBPF20,5_prime_UTR_variant,,ENST00000392971,NM_001278267.1; G ENSG00000162825 ENST00000369373 Transcript synonymous_variant 586/18760 393/16941 131/5646 L ctT/ctC rs9441240 1 NA -1 NBPF20 HGNC HGNC:32000 protein_coding YES ENSP00000358380 H7BY70.44 UPI0004620AF1 4/138 PANTHER:PTHR14199,PANTHER:PTHR14199:SF35 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . TAA . 6455.6 NA NA NA NA NA NA NA NA NA 145402267 NBPF20 728841 . GRCh38 chr1 145402359 145402359 + Missense_Mutation SNP C C A rs1326166781 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.301G>T p.Ala101Ser p.A101S ENST00000369373 4/138 NA NA NA NA NA NA NBPF20,missense_variant,p.Ala101Ser,ENST00000369373,;NBPF20,missense_variant,p.Ala32Ser,ENST00000622803,;NBPF20,missense_variant,p.Ala32Ser,ENST00000594479,;NBPF20,missense_variant,p.Ala101Ser,ENST00000620821,;NBPF20,5_prime_UTR_variant,,ENST00000392971,NM_001278267.1;,regulatory_region_variant,,ENSR00000930356,; A ENSG00000162825 ENST00000369373 Transcript missense_variant 494/18760 301/16941 101/5646 A/S Gct/Tct rs1326166781 1 NA -1 NBPF20 HGNC HGNC:32000 protein_coding YES ENSP00000358380 H7BY70.44 UPI0004620AF1 tolerated(1) benign(0) 4/138 Coiled-coils_(Ncoils):Coil,PANTHER:PTHR14199,PANTHER:PTHR14199:SF35 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . GCG . 7372.6 NA NA NA NA NA NA NA NA NA 145402359 NBPF20 728841 . GRCh38 chr1 145405180 145405180 + Missense_Mutation SNP G G C rs868978406 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.93C>G p.Asn31Lys p.N31K ENST00000369373 2/138 NA NA NA NA NA NA NBPF20,missense_variant,p.Asn31Lys,ENST00000369373,;NBPF20,missense_variant,p.Asn31Lys,ENST00000620821,;NBPF20,5_prime_UTR_variant,,ENST00000392971,NM_001278267.1;NBPF20,upstream_gene_variant,,ENST00000594479,;NBPF20,upstream_gene_variant,,ENST00000622803,;,regulatory_region_variant,,ENSR00000371359,;,regulatory_region_variant,,ENSR00000930357,;PFN1P3,upstream_gene_variant,,ENST00000443612,; C ENSG00000162825 ENST00000369373 Transcript missense_variant 286/18760 93/16941 31/5646 N/K aaC/aaG rs868978406 1 NA -1 NBPF20 HGNC HGNC:32000 protein_coding YES ENSP00000358380 H7BY70.44 UPI0004620AF1 tolerated(1) benign(0) 2/138 PANTHER:PTHR14199,PANTHER:PTHR14199:SF35 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . TGT . 4288.6 2.412e-05 NA NA NA NA NA 4.44e-05 0.0001652 NA 145405180 NBPF20 728841 . GRCh38 chr1 145405199 145405199 + Missense_Mutation SNP C C T rs376281416 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.74G>A p.Arg25His p.R25H ENST00000369373 2/138 NA NA NA NA NA NA NBPF20,missense_variant,p.Arg25His,ENST00000369373,;NBPF20,missense_variant,p.Arg25His,ENST00000620821,;NBPF20,5_prime_UTR_variant,,ENST00000392971,NM_001278267.1;NBPF20,upstream_gene_variant,,ENST00000594479,;NBPF20,upstream_gene_variant,,ENST00000622803,;,regulatory_region_variant,,ENSR00000371359,;,regulatory_region_variant,,ENSR00000930357,;PFN1P3,upstream_gene_variant,,ENST00000443612,;,TF_binding_site_variant,,ENSM00000027199,; T ENSG00000162825 ENST00000369373 Transcript missense_variant 267/18760 74/16941 25/5646 R/H cGc/cAc rs376281416 1 NA -1 NBPF20 HGNC HGNC:32000 protein_coding YES ENSP00000358380 H7BY70.44 UPI0004620AF1 deleterious(0.03) benign(0.074) 2/138 PANTHER:PTHR14199,PANTHER:PTHR14199:SF35 4e-04 NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . GCG . 1151.6 6.453e-05 6.781e-05 0.0001158 NA 0.0002732 NA 1.782e-05 NA 0.0001308 145405199 NBPF10 25832 . GRCh38 chr1 146069569 146069569 + Missense_Mutation SNP C C T rs374175846 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.10784G>A p.Arg3595His p.R3595H ENST00000583866 86/90 NA NA NA NA NA NA NBPF10,missense_variant,p.Arg3595His,ENST00000583866,NM_001039703.6,NM_001302371.3;NBPF10,missense_variant,p.Arg1039His,ENST00000617010,; T ENSG00000271425 ENST00000583866 Transcript missense_variant 10819/13030 10784/11388 3595/3795 R/H cGt/cAt rs374175846 1 NA -1 NBPF10 HGNC HGNC:31992 protein_coding YES CCDS76206.1 ENSP00000463957 A0A075B762.37 UPI00051EF319 NM_001039703.6,NM_001302371.3 tolerated(1) benign(0) 86/90 PROSITE_profiles:PS51316,PANTHER:PTHR14199:SF35,PANTHER:PTHR14199,Pfam:PF06758,SMART:SM01148 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . ACG . 8325.6 NA NA NA NA NA NA NA NA NA 146069569 NBPF10 25832 . GRCh38 chr1 146083758 146083758 + Missense_Mutation SNP C C T rs1467007762 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.8593G>A p.Gly2865Ser p.G2865S ENST00000583866 68/90 NA NA NA NA NA NA NBPF10,missense_variant,p.Gly2865Ser,ENST00000583866,NM_001039703.6,NM_001302371.3;NBPF10,missense_variant,p.Gly240Ser,ENST00000617010,; T ENSG00000271425 ENST00000583866 Transcript missense_variant 8628/13030 8593/11388 2865/3795 G/S Ggc/Agc rs1467007762 1 NA -1 NBPF10 HGNC HGNC:31992 protein_coding YES CCDS76206.1 ENSP00000463957 A0A075B762.37 UPI00051EF319 NM_001039703.6,NM_001302371.3 tolerated(1) probably_damaging(0.999) 68/90 PROSITE_profiles:PS51316,PANTHER:PTHR14199:SF35,PANTHER:PTHR14199,Pfam:PF06758,SMART:SM01148 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . CCA . 88.6 NA NA NA NA NA NA NA NA NA 146083758 NBPF10 25832 . GRCh38 chr1 146093289 146093289 + Missense_Mutation SNP T T G rs200641759 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.7043A>C p.Tyr2348Ser p.Y2348S ENST00000583866 56/90 NA NA NA NA NA NA NBPF10,missense_variant,p.Tyr2348Ser,ENST00000583866,NM_001039703.6,NM_001302371.3;NBPF10,5_prime_UTR_variant,,ENST00000617010,; G ENSG00000271425 ENST00000583866 Transcript missense_variant 7078/13030 7043/11388 2348/3795 Y/S tAt/tCt rs200641759 1 NA -1 NBPF10 HGNC HGNC:31992 protein_coding YES CCDS76206.1 ENSP00000463957 A0A075B762.37 UPI00051EF319 NM_001039703.6,NM_001302371.3 deleterious(0.04) possibly_damaging(0.607) 56/90 PROSITE_profiles:PS51316,PANTHER:PTHR14199:SF35,PANTHER:PTHR14199,Pfam:PF06758,SMART:SM01148 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . ATA . 159.6 NA NA NA NA NA NA NA NA NA 146093289 NBPF10 25832 . GRCh38 chr1 146121510 146121510 + Missense_Mutation SNP A A C rs1367385036 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2746T>G p.Phe916Val p.F916V ENST00000583866 20/90 NA NA NA NA NA NA NBPF10,missense_variant,p.Phe916Val,ENST00000583866,NM_001039703.6,NM_001302371.3;NBPF10,missense_variant,p.Phe672Val,ENST00000612520,;NBPF10,5_prime_UTR_variant,,ENST00000617010,; C ENSG00000271425 ENST00000583866 Transcript missense_variant 2781/13030 2746/11388 916/3795 F/V Ttt/Gtt rs1367385036 1 NA -1 NBPF10 HGNC HGNC:31992 protein_coding YES CCDS76206.1 ENSP00000463957 A0A075B762.37 UPI00051EF319 NM_001039703.6,NM_001302371.3 tolerated(0.16) benign(0.001) 20/90 PROSITE_profiles:PS51316,PANTHER:PTHR14199:SF35,PANTHER:PTHR14199,SMART:SM01148 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . AAA . 57.6 NA NA NA NA NA NA NA NA NA 146121510 NBPF10 25832 . GRCh38 chr1 146128197 146128197 + Missense_Mutation SNP A A T novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1723T>A p.Leu575Met p.L575M ENST00000583866 12/90 NA NA NA NA NA NA NBPF10,missense_variant,p.Leu575Met,ENST00000583866,NM_001039703.6,NM_001302371.3;NBPF10,missense_variant,p.Leu575Met,ENST00000612520,;NBPF10,5_prime_UTR_variant,,ENST00000617010,; T ENSG00000271425 ENST00000583866 Transcript missense_variant 1758/13030 1723/11388 575/3795 L/M Ttg/Atg 1 NA -1 NBPF10 HGNC HGNC:31992 protein_coding YES CCDS76206.1 ENSP00000463957 A0A075B762.37 UPI00051EF319 NM_001039703.6,NM_001302371.3 tolerated(0.08) benign(0.01) 12/90 PROSITE_profiles:PS51316,PANTHER:PTHR14199:SF35,PANTHER:PTHR14199,Pfam:PF06758,SMART:SM01148 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . AAC . 890.6 NA NA NA NA NA NA NA NA NA 146128197 NBPF12 0 . GRCh38 chr1 146974762 146974762 + Missense_Mutation SNP C C A rs1553887102 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1825C>A p.Leu609Ile p.L609I ENST00000617931 17/36 NA NA NA NA NA NA NBPF12,missense_variant,p.Leu609Ile,ENST00000617931,;NBPF12,missense_variant,p.Leu609Ile,ENST00000617844,NM_001278141.1;NBPF12,missense_variant,p.Leu609Ile,ENST00000611443,;NBPF12,missense_variant,p.Leu338Ile,ENST00000617614,;NBPF12,missense_variant,p.Leu338Ile,ENST00000613714,;NBPF12,intron_variant,,ENST00000439206,;NBPF12,intron_variant,,ENST00000579935,;NBPF12,intron_variant,,ENST00000617864,; A ENSG00000268043 ENST00000617931 Transcript missense_variant 2885/7061 1825/4374 609/1457 L/I Cta/Ata rs1553887102 1 NA 1 NBPF12 HGNC HGNC:24297 protein_coding YES CCDS72881.1 ENSP00000478609 Q5TAG4.95 UPI00032968BC tolerated(1) benign(0.001) 17/36 PANTHER:PTHR14199,PANTHER:PTHR14199:SF35 NA 0.8631 0.8026 NA 1 0.6461 0.91 NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . CCT . 230.6 NA NA NA NA NA NA NA NA NA 146974762 NBPF12 0 . GRCh38 chr1 146991176 146991176 + Missense_Mutation SNP T T G rs200504525 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3687T>G p.Cys1229Trp p.C1229W ENST00000617931 32/36 NA NA NA NA NA NA NBPF12,missense_variant,p.Cys1229Trp,ENST00000617931,;NBPF12,missense_variant,p.Cys1229Trp,ENST00000617844,NM_001278141.1;NBPF12,missense_variant,p.Cys883Trp,ENST00000579935,;NBPF12,intron_variant,,ENST00000439206,;NBPF12,intron_variant,,ENST00000611443,;NBPF12,intron_variant,,ENST00000613714,;NBPF12,intron_variant,,ENST00000617614,;NBPF12,intron_variant,,ENST00000617864,; G ENSG00000268043 ENST00000617931 Transcript missense_variant 4747/7061 3687/4374 1229/1457 C/W tgT/tgG rs200504525 1 NA 1 NBPF12 HGNC HGNC:24297 protein_coding YES CCDS72881.1 ENSP00000478609 Q5TAG4.95 UPI00032968BC tolerated(0.08) possibly_damaging(0.833) 32/36 PROSITE_profiles:PS51316,PANTHER:PTHR14199,PANTHER:PTHR14199:SF35,Pfam:PF06758,SMART:SM01148 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . GTT . 3607.6 NA NA NA NA NA NA NA NA NA 146991176 NBPF11 728912 . GRCh38 chr1 148123948 148123948 + Missense_Mutation SNP G G A rs1209593044 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.398C>T p.Pro133Leu p.P133L ENST00000615281 7/24 NA NA NA NA NA NA NBPF11,missense_variant,p.Pro133Leu,ENST00000615281,NM_183372.6;NBPF11,missense_variant,p.Pro133Leu,ENST00000614015,NM_001101663.4;NBPF11,missense_variant,p.Pro98Leu,ENST00000614785,;NBPF11,missense_variant,p.Pro58Leu,ENST00000613531,;NBPF11,missense_variant,p.Pro58Leu,ENST00000614506,; A ENSG00000263956 ENST00000615281 Transcript missense_variant 1549/5494 398/2598 133/865 P/L cCg/cTg rs1209593044 1 NA -1 NBPF11 HGNC HGNC:31993 protein_coding YES CCDS41381.2 ENSP00000477509 Q86T75.120 UPI0000198783 NM_183372.6 tolerated(0.4) benign(0) 7/24 PANTHER:PTHR14199:SF35,PANTHER:PTHR14199 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CGG . 1041.6 NA NA NA NA NA NA NA NA NA 148123948 NBPF11 728912 . GRCh38 chr1 148125000 148125000 + Missense_Mutation SNP C C G rs78214734 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.177G>C p.Lys59Asn p.K59N ENST00000615281 6/24 NA NA NA NA NA NA NBPF11,missense_variant,p.Lys59Asn,ENST00000615281,NM_183372.6;NBPF11,missense_variant,p.Lys59Asn,ENST00000614015,NM_001101663.4;NBPF11,intron_variant,,ENST00000613531,;NBPF11,intron_variant,,ENST00000614785,;NBPF11,intron_variant,,ENST00000614506,;PFN1P4,upstream_gene_variant,,ENST00000450970,; G ENSG00000263956 ENST00000615281 Transcript missense_variant,splice_region_variant 1328/5494 177/2598 59/865 K/N aaG/aaC rs78214734,COSV65043573 1 NA -1 NBPF11 HGNC HGNC:31993 protein_coding YES CCDS41381.2 ENSP00000477509 Q86T75.120 UPI0000198783 NM_183372.6 tolerated(0.09) benign(0.005) 6/24 PANTHER:PTHR14199:SF35,PANTHER:PTHR14199 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 1 NA 0,1 NA NA . ACT . 1503.6 NA NA NA NA NA NA NA NA NA 148125000 NBPF14 400818 . GRCh38 chr1 148567001 148567001 + Missense_Mutation SNP T T A rs1443396976 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3493A>T p.Ile1165Phe p.I1165F ENST00000619423 28/71 NA NA NA NA NA NA NBPF14,missense_variant,p.Ile1165Phe,ENST00000619423,NM_015383.2;NBPF14,missense_variant,p.Ile996Phe,ENST00000614999,;NBPF14,intron_variant,,ENST00000581201,;NBPF14,intron_variant,,ENST00000611826,;NBPF14,intron_variant,,ENST00000614329,;NBPF14,intron_variant,,ENST00000616120,;NBPF14,intron_variant,,ENST00000620240,;NBPF14,intron_variant,,ENST00000621066,;NBPF14,intron_variant,,ENST00000621070,; A ENSG00000270629 ENST00000619423 Transcript missense_variant,splice_region_variant 3685/10779 3493/8967 1165/2988 I/F Att/Ttt rs1443396976 1 NA -1 NBPF14 HGNC HGNC:25232 protein_coding YES ENSP00000479693 A0A087WVU4.34 UPI000387D10E NM_015383.2 tolerated(0.07) benign(0.249) 28/71 PROSITE_profiles:PS51316,PANTHER:PTHR14199,PANTHER:PTHR14199:SF35 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . ATT . 130.61 NA NA NA NA NA NA NA NA NA 148567001 PDE4DIP 9659 . GRCh38 chr1 149029906 149029906 + Silent SNP G G A rs3851872 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.7341G>A p.Glu2447= p.E2447= ENST00000585156 45/47 NA NA NA NA NA NA PDE4DIP,synonymous_variant,p.Glu2447=,ENST00000585156,NM_001377392.1,NM_001350521.3;PDE4DIP,synonymous_variant,p.Glu2311=,ENST00000369356,NM_001198834.4;PDE4DIP,synonymous_variant,p.Glu2396=,ENST00000524974,;PDE4DIP,synonymous_variant,p.Glu2311=,ENST00000369354,NM_014644.6,NM_001350520.1;PDE4DIP,synonymous_variant,p.Glu2205=,ENST00000618462,NM_001350522.2,NM_001377393.1,NM_001198832.3,NM_001350523.2;PDE4DIP,downstream_gene_variant,,ENST00000530130,;AC239802.2,upstream_gene_variant,,ENST00000532137,;PDE4DIP,non_coding_transcript_exon_variant,,ENST00000525630,;PDE4DIP,upstream_gene_variant,,ENST00000460027,;PDE4DIP,upstream_gene_variant,,ENST00000526182,;PDE4DIP,downstream_gene_variant,,ENST00000526664,;PDE4DIP,3_prime_UTR_variant,,ENST00000530062,;PDE4DIP,non_coding_transcript_exon_variant,,ENST00000533768,;PDE4DIP,upstream_gene_variant,,ENST00000464924,;PDE4DIP,downstream_gene_variant,,ENST00000534367,;PDE4DIP,downstream_gene_variant,,ENST00000534466,; A ENSG00000178104 ENST00000585156 Transcript synonymous_variant 7361/8439 7341/7449 2447/2482 E gaG/gaA rs3851872 1 NA 1 PDE4DIP HGNC HGNC:15580 protein_coding YES ENSP00000462316 A0A075B749.42 UPI000387B001 NM_001377392.1,NM_001350521.3 45/47 PANTHER:PTHR46501:SF2,PANTHER:PTHR46501 NA NA NA NA NA NA NA NA NA 28522829 NA NA NA NA LOW NA SNV 5 NA NA 1 . AGC . 6886.03 NA NA NA NA NA NA NA NA NA 149029906 PDE4DIP 9659 . GRCh38 chr1 149029915 149029915 + Silent SNP C C T rs833192 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.7350C>T p.Ile2450= p.I2450= ENST00000585156 45/47 NA NA NA NA NA NA PDE4DIP,synonymous_variant,p.Ile2450=,ENST00000585156,NM_001377392.1,NM_001350521.3;PDE4DIP,synonymous_variant,p.Ile2314=,ENST00000369356,NM_001198834.4;PDE4DIP,synonymous_variant,p.Ile2399=,ENST00000524974,;PDE4DIP,synonymous_variant,p.Ile2314=,ENST00000369354,NM_014644.6,NM_001350520.1;PDE4DIP,synonymous_variant,p.Ile2208=,ENST00000618462,NM_001350522.2,NM_001377393.1,NM_001198832.3,NM_001350523.2;PDE4DIP,downstream_gene_variant,,ENST00000530130,;AC239802.2,upstream_gene_variant,,ENST00000532137,;PDE4DIP,non_coding_transcript_exon_variant,,ENST00000525630,;PDE4DIP,upstream_gene_variant,,ENST00000460027,;PDE4DIP,upstream_gene_variant,,ENST00000526182,;PDE4DIP,downstream_gene_variant,,ENST00000526664,;PDE4DIP,3_prime_UTR_variant,,ENST00000530062,;PDE4DIP,non_coding_transcript_exon_variant,,ENST00000533768,;PDE4DIP,upstream_gene_variant,,ENST00000464924,;PDE4DIP,downstream_gene_variant,,ENST00000534367,;PDE4DIP,downstream_gene_variant,,ENST00000534466,; T ENSG00000178104 ENST00000585156 Transcript synonymous_variant 7370/8439 7350/7449 2450/2482 I atC/atT rs833192 1 NA 1 PDE4DIP HGNC HGNC:15580 protein_coding YES ENSP00000462316 A0A075B749.42 UPI000387B001 NM_001377392.1,NM_001350521.3 45/47 PANTHER:PTHR46501:SF2,PANTHER:PTHR46501 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW NA SNV 5 NA NA 1 . TCG . 6384.03 NA NA NA NA NA NA NA NA NA 149029915 NBPF9 400818 . GRCh38 chr1 149058931 149058931 + Missense_Mutation SNP C C A rs678781 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2752G>T p.Val918Leu p.V918L ENST00000615421 25/29 NA NA NA NA NA NA NBPF9,missense_variant,p.Val918Leu,ENST00000615421,;NBPF9,missense_variant,p.Val788Leu,ENST00000621645,;NBPF9,missense_variant,p.Val918Leu,ENST00000584027,NM_001277444.1;NBPF9,missense_variant,p.Val749Leu,ENST00000613969,;NBPF9,missense_variant,p.Val674Leu,ENST00000621074,;NBPF9,3_prime_UTR_variant,,ENST00000483630,;NBPF9,intron_variant,,ENST00000610300,;NBPF9,intron_variant,,ENST00000613595,NM_001037675.3;NBPF9,downstream_gene_variant,,ENST00000611593,; A ENSG00000269713 ENST00000615421 Transcript missense_variant 3622/5835 2752/3336 918/1111 V/L Gtg/Ttg rs678781 1 NA -1 NBPF9 HGNC HGNC:31991 protein_coding YES CCDS72896.1 ENSP00000477979 P0DPF3.16 UPI000292EE30 deleterious(0.04) benign(0) 25/29 PROSITE_profiles:PS51316,PANTHER:PTHR14199,PANTHER:PTHR14199:SF35,SMART:SM01148 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . ACG . 275.6 NA NA NA NA NA NA NA NA NA 149058931 NBPF9 400818 . GRCh38 chr1 149063750 149063750 + Missense_Mutation SNP C C A rs781934932 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1909G>T p.Asp637Tyr p.D637Y ENST00000615421 19/29 NA NA NA NA NA NA NBPF9,missense_variant,p.Asp637Tyr,ENST00000615421,;NBPF9,missense_variant,p.Asp507Tyr,ENST00000621645,;NBPF9,missense_variant,p.Asp637Tyr,ENST00000584027,NM_001277444.1;NBPF9,missense_variant,p.Asp637Tyr,ENST00000613969,;NBPF9,missense_variant,p.Asp637Tyr,ENST00000613595,NM_001037675.3;NBPF9,missense_variant,p.Asp637Tyr,ENST00000610300,;NBPF9,3_prime_UTR_variant,,ENST00000483630,;NBPF9,intron_variant,,ENST00000621074,;NBPF9,non_coding_transcript_exon_variant,,ENST00000611593,; A ENSG00000269713 ENST00000615421 Transcript missense_variant 2779/5835 1909/3336 637/1111 D/Y Gat/Tat rs781934932 1 NA -1 NBPF9 HGNC HGNC:31991 protein_coding YES CCDS72896.1 ENSP00000477979 P0DPF3.16 UPI000292EE30 deleterious(0) benign(0.202) 19/29 PROSITE_profiles:PS51316,PANTHER:PTHR14199,PANTHER:PTHR14199:SF35,Pfam:PF06758,SMART:SM01148 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . TCC . 2798.6 NA NA NA NA NA NA NA NA NA 149063750 NBPF9 400818 . GRCh38 chr1 149071659 149071659 + Missense_Mutation SNP C C T rs320825 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1324G>A p.Asp442Asn p.D442N ENST00000615421 14/29 NA NA NA NA NA NA NBPF9,missense_variant,p.Asp442Asn,ENST00000615421,;NBPF9,missense_variant,p.Asp442Asn,ENST00000584027,NM_001277444.1;NBPF9,missense_variant,p.Asp442Asn,ENST00000613969,;NBPF9,missense_variant,p.Asp442Asn,ENST00000613595,NM_001037675.3;NBPF9,missense_variant,p.Asp442Asn,ENST00000621074,;NBPF9,missense_variant,p.Asp442Asn,ENST00000610300,;NBPF9,missense_variant,p.Asp171Asn,ENST00000483630,;NBPF9,intron_variant,,ENST00000621645,; T ENSG00000269713 ENST00000615421 Transcript missense_variant 2194/5835 1324/3336 442/1111 D/N Gat/Aat rs320825 1 NA -1 NBPF9 HGNC HGNC:31991 protein_coding YES CCDS72896.1 ENSP00000477979 P0DPF3.16 UPI000292EE30 tolerated(0.06) benign(0.092) 14/29 PROSITE_profiles:PS51316,PANTHER:PTHR14199,PANTHER:PTHR14199:SF35 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . TCG . 3119.6 NA NA NA NA NA NA NA NA NA 149071659 NBPF9 400818 . GRCh38 chr1 149080073 149080073 + Silent SNP C C G rs374488746 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.258G>C p.Leu86= p.L86= ENST00000615421 7/29 NA NA NA NA NA NA NBPF9,synonymous_variant,p.Leu86=,ENST00000615421,;NBPF9,synonymous_variant,p.Leu86=,ENST00000621645,;NBPF9,synonymous_variant,p.Leu86=,ENST00000584027,NM_001277444.1;NBPF9,synonymous_variant,p.Leu86=,ENST00000613969,;NBPF9,synonymous_variant,p.Leu86=,ENST00000613595,NM_001037675.3;NBPF9,synonymous_variant,p.Leu86=,ENST00000621074,;NBPF9,synonymous_variant,p.Leu86=,ENST00000610300,;NBPF9,upstream_gene_variant,,ENST00000483630,; G ENSG00000269713 ENST00000615421 Transcript synonymous_variant 1128/5835 258/3336 86/1111 L ctG/ctC rs374488746 1 NA -1 NBPF9 HGNC HGNC:31991 protein_coding YES CCDS72896.1 ENSP00000477979 P0DPF3.16 UPI000292EE30 7/29 Coiled-coils_(Ncoils):Coil,PANTHER:PTHR14199,PANTHER:PTHR14199:SF35 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . TCA . 790.6 NA NA NA NA NA NA NA NA NA 149080073 NBPF9 400818 . GRCh38 chr1 149080102 149080102 + Missense_Mutation SNP A A G rs1318140413 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.229T>C p.Phe77Leu p.F77L ENST00000615421 7/29 NA NA NA NA NA NA NBPF9,missense_variant,p.Phe77Leu,ENST00000615421,;NBPF9,missense_variant,p.Phe77Leu,ENST00000621645,;NBPF9,missense_variant,p.Phe77Leu,ENST00000584027,NM_001277444.1;NBPF9,missense_variant,p.Phe77Leu,ENST00000613969,;NBPF9,missense_variant,p.Phe77Leu,ENST00000613595,NM_001037675.3;NBPF9,missense_variant,p.Phe77Leu,ENST00000621074,;NBPF9,missense_variant,p.Phe77Leu,ENST00000610300,;NBPF9,upstream_gene_variant,,ENST00000483630,; G ENSG00000269713 ENST00000615421 Transcript missense_variant 1099/5835 229/3336 77/1111 F/L Ttc/Ctc rs1318140413 1 NA -1 NBPF9 HGNC HGNC:31991 protein_coding YES CCDS72896.1 ENSP00000477979 P0DPF3.16 UPI000292EE30 tolerated(0.18) probably_damaging(0.919) 7/29 Coiled-coils_(Ncoils):Coil,PANTHER:PTHR14199,PANTHER:PTHR14199:SF35 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . AAC . 2741.6 NA NA NA NA NA NA NA NA NA 149080102 ADAMTSL4 54507 . GRCh38 chr1 150553102 150553102 + Missense_Mutation SNP C C A novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.283C>A p.Leu95Ile p.L95I ENST00000369039 5/20 NA NA NA NA NA NA ADAMTSL4,missense_variant,p.Leu95Ile,ENST00000369039,NM_001288608.2;ADAMTSL4,missense_variant,p.Leu95Ile,ENST00000271643,NM_019032.6,NM_001378596.1;ADAMTSL4,missense_variant,p.Leu95Ile,ENST00000369038,;ADAMTSL4,missense_variant,p.Leu95Ile,ENST00000674043,;ADAMTSL4,missense_variant,p.Leu95Ile,ENST00000674058,NM_001288607.2;ADAMTSL4,missense_variant,p.Leu95Ile,ENST00000369041,NM_025008.5;ADAMTSL4-AS2,intron_variant,,ENST00000442435,;MIR4257,downstream_gene_variant,,ENST00000581735,;ADAMTSL4,downstream_gene_variant,,ENST00000483335,;,regulatory_region_variant,,ENSR00000372413,; A ENSG00000143382 ENST00000369039 Transcript missense_variant 572/4319 283/3294 95/1097 L/I Ctc/Atc 1 NA 1 ADAMTSL4 HGNC HGNC:19706 protein_coding YES CCDS72908.1 ENSP00000358035 Q6UY14.152 UPI0001AE7902 NM_001288608.2 tolerated(0.29) benign(0.087) 5/20 Low_complexity_(Seg):seg,PROSITE_profiles:PS50092,PANTHER:PTHR13723,PANTHER:PTHR13723:SF144,Gene3D:2.20.100.10,SMART:SM00209 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA 1 . CCT . 1586.6 NA NA NA NA NA NA NA NA NA 150553102 ARNT 405 . GRCh38 chr1 150839608 150839608 + Missense_Mutation SNP C C G novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.319G>C p.Ala107Pro p.A107P ENST00000358595 6/22 NA NA NA NA NA NA ARNT,missense_variant,p.Ala107Pro,ENST00000358595,NM_001668.4;ARNT,missense_variant,p.Ala107Pro,ENST00000354396,NM_001286036.2;ARNT,missense_variant,p.Ala98Pro,ENST00000515192,NM_001350226.2,NM_001350225.2,NM_001286035.2,NM_001350224.2;ARNT,missense_variant,p.Ala92Pro,ENST00000505755,NM_001197325.2,NM_178427.3;ARNT,non_coding_transcript_exon_variant,,ENST00000497108,;ARNT,upstream_gene_variant,,ENST00000468970,;ARNT,missense_variant,p.Ala107Pro,ENST00000471844,;ARNT,3_prime_UTR_variant,,ENST00000504358,;ARNT,non_coding_transcript_exon_variant,,ENST00000505979,;ARNT,upstream_gene_variant,,ENST00000512296,; G ENSG00000143437 ENST00000358595 Transcript missense_variant 351/4710 319/2370 107/789 A/P Gcc/Ccc 1 NA -1 ARNT HGNC HGNC:700 protein_coding YES CCDS970.1 ENSP00000351407 P27540.216 UPI0000030984 NM_001668.4 deleterious(0.01) probably_damaging(1) 6/22 PDB-ENSP_mappings:5nj8.B,PDB-ENSP_mappings:5nj8.D,PDB-ENSP_mappings:5v0l.A,PROSITE_profiles:PS50888,CDD:cd00083,PANTHER:PTHR23042:SF50,PANTHER:PTHR23042,Gene3D:4.10.280.10,Pfam:PF00010,SMART:SM00353,Superfamily:SSF47459,Prints:PR00785 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . GCT . 2504.6 NA NA NA NA NA NA NA NA NA 150839608 ZNF687 57592 . GRCh38 chr1 151289852 151289852 + Frame_Shift_Del DEL C C - rs749403447 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2815del p.Arg939ValfsTer10 p.R939Vfs*10 ENST00000324048 7/10 NA NA NA NA NA NA ZNF687,frameshift_variant,p.Arg939ValfsTer10,ENST00000324048,NM_001304763.2;ZNF687,frameshift_variant,p.Arg939ValfsTer10,ENST00000336715,NM_001304764.2,NM_020832.3;ZNF687,frameshift_variant,p.Arg542ValfsTer10,ENST00000426871,;PI4KB,downstream_gene_variant,,ENST00000368872,NM_001198773.3;PI4KB,downstream_gene_variant,,ENST00000368873,NM_001369623.1,NM_001369626.1,NM_001369629.2,NM_001330721.2;PI4KB,downstream_gene_variant,,ENST00000368874,NM_001369624.1,NM_001198774.2;PI4KB,downstream_gene_variant,,ENST00000368875,NM_001369625.1,NM_001369628.1,NM_002651.4;ZNF687,upstream_gene_variant,,ENST00000436614,;ZNF687,downstream_gene_variant,,ENST00000443959,;PI4KB,downstream_gene_variant,,ENST00000446339,;PI4KB,downstream_gene_variant,,ENST00000455060,;PI4KB,downstream_gene_variant,,ENST00000489889,;PI4KB,downstream_gene_variant,,ENST00000529142,NM_001198775.3;ZNF687,3_prime_UTR_variant,,ENST00000449313,;ZNF687,downstream_gene_variant,,ENST00000459919,; - ENSG00000143373 ENST00000324048 Transcript frameshift_variant 3779/5378 2809/3714 937/1237 P/X Ccc/cc rs749403447 1 NA 1 ZNF687 HGNC HGNC:29277 protein_coding YES CCDS992.1 ENSP00000319829 Q8N1G0.164 UPI00000721F7 NM_001304763.2 7/10 PANTHER:PTHR47222,PANTHER:PTHR47222:SF2,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 6 NA 1 . AGCC . 7306.6 NA NA NA NA NA NA NA NA NA 151289851 POGZ 23126 . GRCh38 chr1 151405814 151405814 + Missense_Mutation SNP C C T rs1250162850 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3221G>A p.Arg1074His p.R1074H ENST00000271715 19/19 NA NA NA NA NA NA POGZ,missense_variant,p.Arg1074His,ENST00000271715,NM_015100.4;POGZ,missense_variant,p.Arg1021His,ENST00000392723,NM_207171.2;POGZ,missense_variant,p.Arg979His,ENST00000368863,NM_145796.4;POGZ,missense_variant,p.Arg1065His,ENST00000409503,NM_001194937.2;POGZ,missense_variant,p.Arg1012His,ENST00000531094,NM_001194938.2;POGZ,missense_variant,p.Arg1030His,ENST00000491586,;PSMB4,downstream_gene_variant,,ENST00000290541,NM_002796.3;POGZ,downstream_gene_variant,,ENST00000529669,;POGZ,non_coding_transcript_exon_variant,,ENST00000358476,;PSMB4,downstream_gene_variant,,ENST00000466425,;PSMB4,downstream_gene_variant,,ENST00000474100,;PSMB4,downstream_gene_variant,,ENST00000476467,;POGZ,downstream_gene_variant,,ENST00000492528,;PSMB4,downstream_gene_variant,,ENST00000493673,;PSMB4,downstream_gene_variant,,ENST00000495288,;PSMB4,downstream_gene_variant,,ENST00000495805,;POGZ,downstream_gene_variant,,ENST00000497787,; T ENSG00000143442 ENST00000271715 Transcript missense_variant 3565/6655 3221/4233 1074/1410 R/H cGt/cAt rs1250162850 1 NA -1 POGZ HGNC HGNC:18801 protein_coding YES CCDS997.1 ENSP00000271715 Q7Z3K3.178 UPI000035895F NM_015100.4 tolerated(0.16) benign(0.254) 19/19 Gene3D:1.10.10.60,Pfam:PF03221,PROSITE_profiles:PS51253,PANTHER:PTHR24403,PANTHER:PTHR24403:SF59,SMART:SM00674,Superfamily:SSF46689 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . ACG . 793.6 3.978e-06 NA NA NA NA NA 8.796e-06 NA NA 151405814 TCHH 7062 . GRCh38 chr1 152111699 152111700 + In_Frame_Ins INS - - TGCTGCTCGCGCCTCTCC rs752560318 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1500_1517dup p.Glu501_Gln506dup p.E501_Q506dup ENST00000614923 3/3 NA NA NA NA NA NA TCHH,inframe_insertion,p.Glu501_Gln506dup,ENST00000614923,NM_007113.3;TCHH,inframe_insertion,p.Glu501_Gln506dup,ENST00000368804,; TGCTGCTCGCGCCTCTCC ENSG00000159450 ENST00000614923 Transcript inframe_insertion 1612-1613/6995 1517-1518/5832 506/1943 Q/QERREQQ caa/caGGAGAGGCGCGAGCAGCAa rs752560318,COSV64272566 1 NA -1 TCHH HGNC HGNC:11791 protein_coding YES CCDS41396.1 ENSP00000480484 Q07283.169 UPI0000458A5E NM_007113.3 3/3 Coiled-coils_(Ncoils):Coil,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 insertion 5 NA 0,1 NA 1 . GTT . 2482.64 NA NA NA NA NA NA NA NA NA 152111699 FLG 2312 . GRCh38 chr1 152306712 152306712 + Missense_Mutation SNP C C T rs376489552 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.8174G>A p.Arg2725His p.R2725H ENST00000368799 3/3 NA NA NA NA NA NA FLG,missense_variant,p.Arg2725His,ENST00000368799,NM_002016.2;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;FLG-AS1,intron_variant,,ENST00000630125,;FLG-AS1,intron_variant,,ENST00000653548,;FLG-AS1,intron_variant,,ENST00000655109,;FLG-AS1,intron_variant,,ENST00000659844,;FLG-AS1,intron_variant,,ENST00000664213,;FLG-AS1,intron_variant,,ENST00000666686,;FLG-AS1,intron_variant,,ENST00000669062,;FLG-AS1,intron_variant,,ENST00000669830,; T ENSG00000143631 ENST00000368799 Transcript missense_variant 8246/12793 8174/12186 2725/4061 R/H cGt/cAt rs376489552 1 NA -1 FLG HGNC HGNC:3748 protein_coding YES CCDS30860.1 ENSP00000357789 P20930.178 UPI0000470CB3 NM_002016.2 tolerated(0.87) benign(0) 3/3 PANTHER:PTHR22571,PANTHER:PTHR22571:SF48,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA 0.0002387 0.0001187 NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . ACG . 409.6 0.0001282 7.663e-05 5.828e-05 NA 5.51e-05 NA 0.0002393 0.0001686 NA 152306712 FLG 2312 . GRCh38 chr1 152313003 152313003 + Missense_Mutation SNP T T C novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1883A>G p.Gln628Arg p.Q628R ENST00000368799 3/3 NA NA NA NA NA NA FLG,missense_variant,p.Gln628Arg,ENST00000368799,NM_002016.2;FLG-AS1,non_coding_transcript_exon_variant,,ENST00000665223,;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;FLG-AS1,intron_variant,,ENST00000630125,;FLG-AS1,intron_variant,,ENST00000653548,;FLG-AS1,intron_variant,,ENST00000655109,;FLG-AS1,intron_variant,,ENST00000659844,;FLG-AS1,intron_variant,,ENST00000664213,;FLG-AS1,intron_variant,,ENST00000666686,;FLG-AS1,intron_variant,,ENST00000669062,;FLG-AS1,intron_variant,,ENST00000669830,;FLG-AS1,upstream_gene_variant,,ENST00000392688,; C ENSG00000143631 ENST00000368799 Transcript missense_variant 1955/12793 1883/12186 628/4061 Q/R cAg/cGg 1 NA -1 FLG HGNC HGNC:3748 protein_coding YES CCDS30860.1 ENSP00000357789 P20930.178 UPI0000470CB3 NM_002016.2 deleterious(0) possibly_damaging(0.81) 3/3 Pfam:PF03516,PANTHER:PTHR22571,PANTHER:PTHR22571:SF48,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . CTG . 10982.6 NA NA NA NA NA NA NA NA NA 152313003 LCE4A 199834 . GRCh38 chr1 152709204 152709205 + In_Frame_Ins INS - - AGCTCTGGGGGCTGCTGT rs6143428 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.143_144insCTGTAGCTCTGGGGGCTG p.Cys48_Gly49insCysSerSerGlyGlyCys p.C48_G49insCSSGGC ENST00000368777 2/2 NA NA NA NA NA NA LCE4A,inframe_insertion,p.Cys48_Gly49insCysSerSerGlyGlyCys,ENST00000368777,NM_178356.3; AGCTCTGGGGGCTGCTGT ENSG00000187170 ENST00000368777 Transcript inframe_insertion 385-386/672 129-130/300 43-44/99 -/SSGGCC -/AGCTCTGGGGGCTGCTGT rs6143428 1 NA 1 LCE4A HGNC HGNC:16613 protein_coding YES CCDS1022.1 ENSP00000357766 Q5TA78.96 UPI0000192763 NM_178356.3 2/2 Pfam:PF14672,PANTHER:PTHR23263,PANTHER:PTHR23263:SF25,Low_complexity_(Seg):seg NA 0.9758 0.853 NA 0.6855 0.7177 0.7301 NA NA NA NA NA NA MODERATE 1 insertion 2 14 NA NA . CCA . 7644.06 NA NA NA NA NA NA NA NA NA 152709204 LCE1F 353137 . GRCh38 chr1 152776532 152776533 + In_Frame_Ins INS - - CAGCTCTGGGGGCTGCTG rs766160595 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.174_191dup p.Cys59_Gly64dup p.C59_G64dup ENST00000334371 1/1 NA NA NA NA NA NA LCE1F,inframe_insertion,p.Cys59_Gly64dup,ENST00000334371,NM_178354.2; CAGCTCTGGGGGCTGCTG ENSG00000240386 ENST00000334371 Transcript inframe_insertion 161-162/357 161-162/357 54/118 S/SSSGGCC tcc/tcCAGCTCTGGGGGCTGCTGc rs766160595 1 NA 1 LCE1F HGNC HGNC:29467 protein_coding YES CCDS1023.1 ENSP00000334187 Q5T754.90 UPI0000192764 NM_178354.2 1/1 Pfam:PF14672,PANTHER:PTHR23263,PANTHER:PTHR23263:SF119,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 insertion NA 30 NA NA . TCC . 2347.64 NA NA NA NA NA NA NA NA NA 152776532 LCE1F 353137 . GRCh38 chr1 152776551 152776551 + Silent SNP C C T rs201223178 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.180C>T p.Cys60= p.C60= ENST00000334371 1/1 NA NA NA NA NA NA LCE1F,synonymous_variant,p.Cys60=,ENST00000334371,NM_178354.2; T ENSG00000240386 ENST00000334371 Transcript synonymous_variant 180/357 180/357 60/118 C tgC/tgT rs201223178 1 NA 1 LCE1F HGNC HGNC:29467 protein_coding YES CCDS1023.1 ENSP00000334187 Q5T754.90 UPI0000192764 NM_178354.2 1/1 Pfam:PF14672,Pfam:PF14672,PANTHER:PTHR23263,PANTHER:PTHR23263:SF119,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV NA NA NA NA . GCA . 220.6 NA NA NA NA NA NA NA NA NA 152776551 LCE1F 353137 . GRCh38 chr1 152776563 152776563 + Silent SNP T T C rs202038292 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.192T>C p.Gly64= p.G64= ENST00000334371 1/1 NA NA NA NA NA NA LCE1F,synonymous_variant,p.Gly64=,ENST00000334371,NM_178354.2; C ENSG00000240386 ENST00000334371 Transcript synonymous_variant 192/357 192/357 64/118 G ggT/ggC rs202038292 1 NA 1 LCE1F HGNC HGNC:29467 protein_coding YES CCDS1023.1 ENSP00000334187 Q5T754.90 UPI0000192764 NM_178354.2 1/1 Pfam:PF14672,PANTHER:PTHR23263,PANTHER:PTHR23263:SF119,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV NA NA NA NA . GTG . 172.6 NA NA NA NA NA NA NA NA NA 152776563 LCE1F 353137 . GRCh38 chr1 152776564 152776564 + Missense_Mutation SNP G G T rs200171226 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.193G>T p.Gly65Cys p.G65C ENST00000334371 1/1 NA NA NA NA NA NA LCE1F,missense_variant,p.Gly65Cys,ENST00000334371,NM_178354.2; T ENSG00000240386 ENST00000334371 Transcript missense_variant 193/357 193/357 65/118 G/C Ggt/Tgt rs200171226,COSV57668856 1 NA 1 LCE1F HGNC HGNC:29467 protein_coding YES CCDS1023.1 ENSP00000334187 Q5T754.90 UPI0000192764 NM_178354.2 tolerated_low_confidence(0.12) benign(0.09) 1/1 Pfam:PF14672,PANTHER:PTHR23263,PANTHER:PTHR23263:SF119,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV NA NA 0,1 NA NA . TGG . 165.6 NA NA NA NA NA NA NA NA NA 152776564 LCE1F 353137 . GRCh38 chr1 152776569 152776569 + Silent SNP C C T rs200906005 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.198C>T p.Gly66= p.G66= ENST00000334371 1/1 NA NA NA NA NA NA LCE1F,synonymous_variant,p.Gly66=,ENST00000334371,NM_178354.2; T ENSG00000240386 ENST00000334371 Transcript synonymous_variant 198/357 198/357 66/118 G ggC/ggT rs200906005,COSV57669284 1 NA 1 LCE1F HGNC HGNC:29467 protein_coding YES CCDS1023.1 ENSP00000334187 Q5T754.90 UPI0000192764 NM_178354.2 1/1 Pfam:PF14672,PANTHER:PTHR23263,PANTHER:PTHR23263:SF119,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA LOW 1 SNV NA NA 0,1 NA NA . GCT . 135.6 NA NA NA NA NA NA NA NA NA 152776569 SPRR2D 6703 . GRCh38 chr1 153040141 153040141 + Missense_Mutation SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.206C>T p.Pro69Leu p.P69L ENST00000368757 2/2 NA NA NA NA NA NA SPRR2D,missense_variant,p.Pro69Leu,ENST00000368757,;SPRR2D,missense_variant,p.Pro69Leu,ENST00000368756,;SPRR2D,missense_variant,p.Pro69Leu,ENST00000368758,;SPRR2D,missense_variant,p.Pro69Leu,ENST00000360379,NM_006945.5,NM_001382248.1; A ENSG00000163216 ENST00000368757 Transcript missense_variant 487/800 206/219 69/72 P/L cCc/cTc 1 NA -1 SPRR2D HGNC HGNC:11264 protein_coding YES CCDS30864.1 ENSP00000357746 P22532.139 UPI000006FE18 deleterious_low_confidence(0) probably_damaging(0.924) 2/2 Pfam:PF14820,PANTHER:PTHR23263,PANTHER:PTHR23263:SF120,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 3 NA NA NA . GGG . 3570.6 NA NA NA NA NA NA NA NA NA 153040141 DENND4B 9909 . GRCh38 chr1 153930964 153930964 + Missense_Mutation SNP A A G rs200600366 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4097T>C p.Val1366Ala p.V1366A ENST00000361217 25/28 NA NA NA NA NA NA DENND4B,missense_variant,p.Val1366Ala,ENST00000361217,NM_014856.3,NM_001367466.1;DENND4B,downstream_gene_variant,,ENST00000368646,;AL358472.5,intron_variant,,ENST00000641267,;AL358472.5,intron_variant,,ENST00000641448,;DENND4B,non_coding_transcript_exon_variant,,ENST00000474386,;DENND4B,non_coding_transcript_exon_variant,,ENST00000480340,;DENND4B,non_coding_transcript_exon_variant,,ENST00000492898,;DENND4B,downstream_gene_variant,,ENST00000462423,;DENND4B,downstream_gene_variant,,ENST00000477746,;DENND4B,downstream_gene_variant,,ENST00000531748,; G ENSG00000198837 ENST00000361217 Transcript missense_variant 4538/5728 4097/4491 1366/1496 V/A gTg/gCg rs200600366 1 NA -1 DENND4B HGNC HGNC:29044 protein_coding YES CCDS44228.1 ENSP00000354597 O75064.139 UPI000047EA3E NM_014856.3,NM_001367466.1 deleterious(0.03) benign(0.003) 25/28 PANTHER:PTHR12296,PANTHER:PTHR12296:SF18 2e-04 NA NA NA NA 0.001 NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CAC . 2017.6 1.626e-05 NA NA NA NA NA 3.584e-05 NA NA 153930964 DENND4B 9909 . GRCh38 chr1 153940949 153940949 + Silent SNP C C T rs747516721 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1281G>A p.Ser427= p.S427= ENST00000361217 9/28 NA NA NA NA NA NA DENND4B,synonymous_variant,p.Ser427=,ENST00000361217,NM_014856.3,NM_001367466.1;DENND4B,synonymous_variant,p.Ser438=,ENST00000368646,;DENND4B,downstream_gene_variant,,ENST00000472932,;DENND4B,non_coding_transcript_exon_variant,,ENST00000494683,;DENND4B,downstream_gene_variant,,ENST00000464048,;DENND4B,upstream_gene_variant,,ENST00000477746,;DENND4B,downstream_gene_variant,,ENST00000483561,;DENND4B,upstream_gene_variant,,ENST00000485359,; T ENSG00000198837 ENST00000361217 Transcript synonymous_variant 1722/5728 1281/4491 427/1496 S tcG/tcA rs747516721 1 NA -1 DENND4B HGNC HGNC:29044 protein_coding YES CCDS44228.1 ENSP00000354597 O75064.139 UPI000047EA3E NM_014856.3,NM_001367466.1 9/28 Gene3D:3.40.50.11500,Pfam:PF02141,PROSITE_profiles:PS50211,PANTHER:PTHR12296,PANTHER:PTHR12296:SF18,SMART:SM00799 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . GCG . 1889.6 8.819e-06 NA NA NA NA NA NA NA 7.164e-05 153940949 CHRNB2 1141 . GRCh38 chr1 154571856 154571856 + Missense_Mutation SNP G G A rs927693883 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1039G>A p.Ala347Thr p.A347T ENST00000637900 5/6 NA NA NA NA NA NA CHRNB2,missense_variant,p.Ala345Thr,ENST00000368476,NM_000748.3;CHRNB2,missense_variant,p.Ala347Thr,ENST00000637900,;AL592078.2,upstream_gene_variant,,ENST00000659429,;AL592078.2,upstream_gene_variant,,ENST00000664303,;AL592078.2,upstream_gene_variant,,ENST00000666466,;CHRNB2,upstream_gene_variant,,ENST00000635876,;CHRNB2,missense_variant,p.Ala345Thr,ENST00000636034,;CHRNB2,downstream_gene_variant,,ENST00000636695,; A ENSG00000160716 ENST00000637900 Transcript missense_variant 1249/2390 1039/1515 347/504 A/T Gcg/Acg rs927693883 1 NA 1 CHRNB2 HGNC HGNC:1962 protein_coding YES ENSP00000490474 A0A1B0GVD7.19 UPI0007E52D04 tolerated(0.43) benign(0) 5/6 Gene3D:1.20.58.390,Pfam:PF02932,PANTHER:PTHR18945,PANTHER:PTHR18945:SF80,Superfamily:SSF90112,TIGRFAM:TIGR00860 NA NA NA NA NA NA NA NA NA uncertain_significance NA NA NA NA MODERATE 1 SNV 5 NA 1 NA 1 . CGC . 4390.6 NA NA NA NA NA NA NA NA NA 154571856 KCNN3 3782 . GRCh38 chr1 154869723 154869724 + In_Frame_Ins INS - - GCTGCTGCT rs3831942 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.233_241dup p.Gln78_Gln80dup p.Q78_Q80dup ENST00000618040 1/9 NA NA NA NA NA NA KCNN3,inframe_insertion,p.Gln78_Gln80dup,ENST00000618040,NM_001204087.1,NM_001365837.1;KCNN3,inframe_insertion,p.Gln78_Gln80dup,ENST00000271915,NM_002249.6;KCNN3,upstream_gene_variant,,ENST00000358505,NM_001365838.1;,regulatory_region_variant,,ENSR00000931249,; GCTGCTGCT ENSG00000143603 ENST00000618040 Transcript inframe_insertion 555-556/13057 241-242/2241 81/746 P/QQQP cca/cAGCAGCAGCca rs3831942,COSV55211916,COSV55212596,COSV55220080,COSV55220088 1 NA -1 KCNN3 HGNC HGNC:6292 protein_coding YES CCDS72928.1 ENSP00000481848 A0A087WYJ0.46 UPI0001F936D2 NM_001204087.1,NM_001365837.1 1/9 PANTHER:PTHR10153,PANTHER:PTHR10153:SF40,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA 0,1,1,1,1 24033266 NA NA NA NA MODERATE 1 insertion 5 NA 1,1,1,1,1 NA 1 . TGG . 5076.1 NA NA NA NA NA NA NA NA NA 154869723 MUC1 4582 . GRCh38 chr1 155188227 155188227 + Missense_Mutation SNP T T A novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3185A>T p.Asn1062Ile p.N1062I ENST00000611571 6/11 NA NA NA NA NA NA MUC1,missense_variant,p.Asn1062Ile,ENST00000611571,NM_001371720.1;MUC1,missense_variant,p.Asn284Ile,ENST00000612778,NM_001204286.1;MUC1,missense_variant,p.Asn275Ile,ENST00000620103,NM_001204285.2;MUC1,missense_variant,p.Asn82Ile,ENST00000457295,;MUC1,missense_variant,p.Asn42Ile,ENST00000462317,;MUC1,missense_variant,p.Asn82Ile,ENST00000614519,;MUC1,missense_variant,p.Asn64Ile,ENST00000368392,NM_001204288.2,NM_001018016.3;MUC1,missense_variant,p.Asn64Ile,ENST00000615517,NM_001204295.1;MUC1,missense_variant,p.Asn73Ile,ENST00000368393,NM_001204293.2;MUC1,missense_variant,p.Asn73Ile,ENST00000337604,NM_002456.6,NM_001204287.2;MUC1,missense_variant,p.Asn55Ile,ENST00000368390,NM_001018017.3;MUC1,missense_variant,p.Asn55Ile,ENST00000471283,NM_001044393.3;MUC1,missense_variant,p.Asn73Ile,ENST00000368389,NM_001204297.2;MUC1,missense_variant,p.Asn64Ile,ENST00000368396,NM_001044391.3,NM_001044392.3;MUC1,intron_variant,,ENST00000338684,NM_001204291.1,NM_001204289.2;MUC1,intron_variant,,ENST00000342482,;MUC1,intron_variant,,ENST00000343256,NM_001044390.3,NM_001204296.2;MUC1,intron_variant,,ENST00000368398,NM_001204294.2;MUC1,intron_variant,,ENST00000438413,NM_001204290.2;MUC1,intron_variant,,ENST00000462215,;MUC1,intron_variant,,ENST00000610359,NM_001204292.1;MUC1,intron_variant,,ENST00000611577,;TRIM46,downstream_gene_variant,,ENST00000334634,NM_025058.5;TRIM46,downstream_gene_variant,,ENST00000368382,NM_001256599.2;TRIM46,downstream_gene_variant,,ENST00000392451,;AL713999.2,upstream_gene_variant,,ENST00000473363,;MUC1,upstream_gene_variant,,ENST00000485118,;TRIM46,downstream_gene_variant,,ENST00000545012,NM_001282378.1;TRIM46,downstream_gene_variant,,ENST00000611379,NM_001256601.1;MUC1,downstream_gene_variant,,ENST00000466913,;TRIM46,downstream_gene_variant,,ENST00000468878,;MUC1,missense_variant,p.Asn55Ile,ENST00000498431,;MUC1,intron_variant,,ENST00000467134,;MUC1,intron_variant,,ENST00000610468,;MUC1,upstream_gene_variant,,ENST00000468978,;MUC1,downstream_gene_variant,,ENST00000620770,; A ENSG00000185499 ENST00000611571 Transcript missense_variant 3257/4170 3185/3789 1062/1262 N/I aAt/aTt 1 NA -1 MUC1 HGNC HGNC:7508 protein_coding YES ENSP00000480333 A0A087WWM1.35 UPI0004E4CBB7 NM_001371720.1 deleterious(0) probably_damaging(0.991) 6/11 Gene3D:3.30.70.960,Pfam:PF01390,PROSITE_profiles:PS50024,PANTHER:PTHR10006,SMART:SM00200,Superfamily:SSF82671 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE NA SNV 5 NA NA 1 . ATT . 3623.6 NA NA NA NA NA NA NA NA NA 155188227 FDPS 2224 . GRCh38 chr1 155318192 155318192 + Silent SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.585C>T p.Ile195= p.I195= ENST00000356657 6/11 NA NA NA NA NA NA FDPS,synonymous_variant,p.Ile195=,ENST00000356657,NM_001135821.2;FDPS,synonymous_variant,p.Ile195=,ENST00000368356,NM_002004.4;FDPS,synonymous_variant,p.Ile129=,ENST00000447866,;FDPS,synonymous_variant,p.Ile129=,ENST00000612683,NM_001378425.1,NM_001378424.1;FDPS,synonymous_variant,p.Ile24=,ENST00000611010,NM_001242825.1;FDPS,synonymous_variant,p.Ile129=,ENST00000467076,NM_001242824.2,NM_001135822.2;FDPS,synonymous_variant,p.Ile195=,ENST00000491013,;RUSC1,upstream_gene_variant,,ENST00000368352,NM_001105203.2;RUSC1,upstream_gene_variant,,ENST00000368354,NM_001105204.2;FDPS,downstream_gene_variant,,ENST00000465559,;RUSC1-AS1,non_coding_transcript_exon_variant,,ENST00000543656,;RUSC1-AS1,intron_variant,,ENST00000443642,;RUSC1-AS1,intron_variant,,ENST00000446880,;RUSC1-AS1,downstream_gene_variant,,ENST00000450199,;FDPS,non_coding_transcript_exon_variant,,ENST00000468479,;FDPS,non_coding_transcript_exon_variant,,ENST00000470171,;FDPS,non_coding_transcript_exon_variant,,ENST00000477057,;FDPS,non_coding_transcript_exon_variant,,ENST00000492244,;FDPS,3_prime_UTR_variant,,ENST00000474345,;FDPS,non_coding_transcript_exon_variant,,ENST00000461507,;FDPS,non_coding_transcript_exon_variant,,ENST00000489003,;FDPS,non_coding_transcript_exon_variant,,ENST00000495308,;FDPS,non_coding_transcript_exon_variant,,ENST00000471117,;FDPS,non_coding_transcript_exon_variant,,ENST00000492887,;RUSC1,upstream_gene_variant,,ENST00000467820,;FDPS,upstream_gene_variant,,ENST00000489324,;FDPS,upstream_gene_variant,,ENST00000490140,; T ENSG00000160752 ENST00000356657 Transcript synonymous_variant 747/1478 585/1260 195/419 I atC/atT 1 NA 1 FDPS HGNC HGNC:3631 protein_coding YES CCDS1110.1 ENSP00000349078 P14324.220 UPI000006E4F7 NM_001135821.2 6/11 Gene3D:1.10.600.10,PDB-ENSP_mappings:1yq7.A,PDB-ENSP_mappings:1yv5.A,PDB-ENSP_mappings:1zw5.A,PDB-ENSP_mappings:2f7m.F,PDB-ENSP_mappings:2f89.F,PDB-ENSP_mappings:2f8c.F,PDB-ENSP_mappings:2f8z.F,PDB-ENSP_mappings:2f92.F,PDB-ENSP_mappings:2f94.F,PDB-ENSP_mappings:2f9k.F,PDB-ENSP_mappings:2opm.A,PDB-ENSP_mappings:2opn.A,PDB-ENSP_mappings:2qis.A,PDB-ENSP_mappings:2rah.A,PDB-ENSP_mappings:2vf6.A,PDB-ENSP_mappings:3b7l.A,PDB-ENSP_mappings:3cp6.A,PDB-ENSP_mappings:3n1v.F,PDB-ENSP_mappings:3n1w.F,PDB-ENSP_mappings:3n3l.F,PDB-ENSP_mappings:3n45.F,PDB-ENSP_mappings:3n46.F,PDB-ENSP_mappings:3n49.F,PDB-ENSP_mappings:3n5h.F,PDB-ENSP_mappings:3n5j.F,PDB-ENSP_mappings:3n6k.F,PDB-ENSP_mappings:3rye.A,PDB-ENSP_mappings:3s4j.A,PDB-ENSP_mappings:4dem.F,PDB-ENSP_mappings:4ga3.A,PDB-ENSP_mappings:4h5c.F,PDB-ENSP_mappings:4h5d.F,PDB-ENSP_mappings:4h5e.F,PDB-ENSP_mappings:4jvj.F,PDB-ENSP_mappings:4kfa.A,PDB-ENSP_mappings:4kpd.A,PDB-ENSP_mappings:4kpj.A,PDB-ENSP_mappings:4kq5.A,PDB-ENSP_mappings:4kqs.A,PDB-ENSP_mappings:4kqu.A,PDB-ENSP_mappings:4l2x.F,PDB-ENSP_mappings:4lfv.F,PDB-ENSP_mappings:4lpg.F,PDB-ENSP_mappings:4lph.F,PDB-ENSP_mappings:4n1z.F,PDB-ENSP_mappings:4n9u.A,PDB-ENSP_mappings:4nfi.F,PDB-ENSP_mappings:4nfj.F,PDB-ENSP_mappings:4nfk.F,PDB-ENSP_mappings:4ng6.A,PDB-ENSP_mappings:4nke.A,PDB-ENSP_mappings:4nkf.A,PDB-ENSP_mappings:4nua.A,PDB-ENSP_mappings:4ogu.A,PDB-ENSP_mappings:4p0v.A,PDB-ENSP_mappings:4p0w.A,PDB-ENSP_mappings:4p0x.A,PDB-ENSP_mappings:4pvx.F,PDB-ENSP_mappings:4pvy.F,PDB-ENSP_mappings:4q23.A,PDB-ENSP_mappings:4qpf.A,PDB-ENSP_mappings:4qxs.F,PDB-ENSP_mappings:4rxa.A,PDB-ENSP_mappings:4xqr.F,PDB-ENSP_mappings:4xqs.F,PDB-ENSP_mappings:4xqt.F,PDB-ENSP_mappings:5cg5.A,PDB-ENSP_mappings:5cg6.A,PDB-ENSP_mappings:5dgm.F,PDB-ENSP_mappings:5dgn.F,PDB-ENSP_mappings:5dgs.F,PDB-ENSP_mappings:5diq.F,PDB-ENSP_mappings:5djp.F,PDB-ENSP_mappings:5djr.F,PDB-ENSP_mappings:5djv.F,PDB-ENSP_mappings:5ja0.F,PDB-ENSP_mappings:5juz.F,PDB-ENSP_mappings:5jv0.F,PDB-ENSP_mappings:5jv1.F,PDB-ENSP_mappings:5jv2.F,PDB-ENSP_mappings:5ksx.F,PDB-ENSP_mappings:5ygi.A,PDB-ENSP_mappings:6n7y.F,PDB-ENSP_mappings:6n7z.F,PDB-ENSP_mappings:6n82.F,PDB-ENSP_mappings:6n83.F,PDB-ENSP_mappings:6oag.F,PDB-ENSP_mappings:6oah.F,Pfam:PF00348,PANTHER:PTHR15591,PANTHER:PTHR15591:SF15,SFLD:SFLDG01017,SFLD:SFLDS00005,Superfamily:SSF48576,CDD:cd00685 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . TCA . 3942.6 NA NA NA NA NA NA NA NA NA 155318192 GON4L 54856 . GRCh38 chr1 155813734 155813734 + Frame_Shift_Del DEL G G - novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1352del p.Pro451LeufsTer19 p.P451Lfs*19 ENST00000368331 10/32 NA NA NA NA NA NA GON4L,frameshift_variant,p.Pro451LeufsTer19,ENST00000368331,NM_001282860.2;GON4L,frameshift_variant,p.Pro451LeufsTer19,ENST00000615926,NM_001282856.1;GON4L,frameshift_variant,p.Pro451LeufsTer19,ENST00000437809,;GON4L,frameshift_variant,p.Pro451LeufsTer19,ENST00000271883,NM_001282858.2;GON4L,frameshift_variant,p.Pro451LeufsTer19,ENST00000620426,;GON4L,frameshift_variant,p.Pro451LeufsTer19,ENST00000361040,NM_032292.6,NM_001282861.2;GON4L,frameshift_variant,p.Pro451LeufsTer19,ENST00000622608,;GON4L,non_coding_transcript_exon_variant,,ENST00000471341,;GON4L,non_coding_transcript_exon_variant,,ENST00000467009,; - ENSG00000116580 ENST00000368331 Transcript frameshift_variant 1527/7823 1352/6726 451/2241 P/X cCt/ct 1 NA -1 GON4L HGNC HGNC:25973 protein_coding YES CCDS60296.1 ENSP00000357315 Q3T8J9.138 UPI0000351551 NM_001282860.2 10/32 PANTHER:PTHR16088,PANTHER:PTHR16088:SF11,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 NA NA 1 . GAGG . 3303.6 NA NA NA NA NA NA NA NA NA 155813733 GON4L 54856 . GRCh38 chr1 155813783 155813783 + Missense_Mutation SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1303G>A p.Ala435Thr p.A435T ENST00000368331 10/32 NA NA NA NA NA NA GON4L,missense_variant,p.Ala435Thr,ENST00000368331,NM_001282860.2;GON4L,missense_variant,p.Ala435Thr,ENST00000615926,NM_001282856.1;GON4L,missense_variant,p.Ala435Thr,ENST00000437809,;GON4L,missense_variant,p.Ala435Thr,ENST00000271883,NM_001282858.2;GON4L,missense_variant,p.Ala435Thr,ENST00000620426,;GON4L,missense_variant,p.Ala435Thr,ENST00000361040,NM_032292.6,NM_001282861.2;GON4L,missense_variant,p.Ala435Thr,ENST00000622608,;GON4L,non_coding_transcript_exon_variant,,ENST00000471341,;GON4L,non_coding_transcript_exon_variant,,ENST00000467009,; T ENSG00000116580 ENST00000368331 Transcript missense_variant 1478/7823 1303/6726 435/2241 A/T Gcc/Acc 1 NA -1 GON4L HGNC HGNC:25973 protein_coding YES CCDS60296.1 ENSP00000357315 Q3T8J9.138 UPI0000351551 NM_001282860.2 tolerated(0.18) benign(0.03) 10/32 PANTHER:PTHR16088,PANTHER:PTHR16088:SF11,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . GCT . 2802.6 NA NA NA NA NA NA NA NA NA 155813783 RXFP4 339403 . GRCh38 chr1 155942766 155942766 + Missense_Mutation SNP G G A rs761985012 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1057G>A p.Ala353Thr p.A353T ENST00000368318 1/1 NA NA NA NA NA NA RXFP4,missense_variant,p.Ala353Thr,ENST00000368318,NM_181885.3;ARHGEF2,downstream_gene_variant,,ENST00000313695,NM_001350112.1,NM_001350110.1,NM_004723.3,NM_001350111.1;ARHGEF2,downstream_gene_variant,,ENST00000361247,NM_001162383.2;ARHGEF2,downstream_gene_variant,,ENST00000368315,;ARHGEF2,downstream_gene_variant,,ENST00000462460,;ARHGEF2,downstream_gene_variant,,ENST00000470541,;ARHGEF2,downstream_gene_variant,,ENST00000673475,;ARHGEF2,downstream_gene_variant,,ENST00000477754,;,regulatory_region_variant,,ENSR00000373787,; A ENSG00000173080 ENST00000368318 Transcript missense_variant 1129/1450 1057/1125 353/374 A/T Gca/Aca rs761985012,COSV58143598 1 NA 1 RXFP4 HGNC HGNC:14666 protein_coding YES CCDS1124.1 ENSP00000357301 Q8TDU9.156 UPI0000048F6E NM_181885.3 tolerated(0.18) benign(0.012) 1/1 PANTHER:PTHR24230,PANTHER:PTHR24230:SF32 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV NA NA 0,1 NA NA . CGC . 2892.6 4.565e-06 NA NA NA NA NA NA NA 3.715e-05 155942766 MEF2D 4209 . GRCh38 chr1 156479713 156479713 + Silent SNP G G A rs572015737 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.480C>T p.Ser160= p.S160= ENST00000348159 5/12 NA NA NA NA NA NA MEF2D,synonymous_variant,p.Ser160=,ENST00000348159,NM_005920.4;MEF2D,synonymous_variant,p.Ser159=,ENST00000464356,;MEF2D,synonymous_variant,p.Ser160=,ENST00000360595,NM_001271629.2;MEF2D,intron_variant,,ENST00000368240,;MEF2D,downstream_gene_variant,,ENST00000489057,;Y_RNA,downstream_gene_variant,,ENST00000383924,;MEF2D,non_coding_transcript_exon_variant,,ENST00000493077,;MEF2D,intron_variant,,ENST00000475587,; A ENSG00000116604 ENST00000348159 Transcript synonymous_variant 908/5912 480/1566 160/521 S agC/agT rs572015737,COSV100560104 1 NA -1 MEF2D HGNC HGNC:6997 protein_coding YES CCDS1143.1 ENSP00000271555 Q14814.189 UPI000012EEB6 NM_005920.4 5/12 PANTHER:PTHR11945,PANTHER:PTHR11945:SF23,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA LOW 1 SNV 1 NA 0,1 NA NA . CGC . 8545.6 0.0001151 NA NA NA 8.834e-05 6.504e-05 0.0002147 0.0002267 8.78e-05 156479713 NES 10763 . GRCh38 chr1 156673012 156673012 + Frame_Shift_Del DEL G G - rs759081520 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1176del p.Thr393HisfsTer9 p.T393Hfs*9 ENST00000368223 4/4 NA NA NA NA NA NA NES,frameshift_variant,p.Thr393HisfsTer9,ENST00000368223,NM_006617.2; - ENSG00000132688 ENST00000368223 Transcript frameshift_variant 1319/5568 1176/4866 392/1621 P/X ccC/cc rs759081520 1 NA -1 NES HGNC HGNC:7756 protein_coding YES CCDS1151.1 ENSP00000357206 P48681.164 UPI0000213DC0 NM_006617.2 4/4 PANTHER:PTHR47051,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 NA NA NA . GTGG . 2037.6 1.21e-05 NA NA NA NA NA 1.787e-05 NA 3.303e-05 156673011 MRPL24 79590 . GRCh38 chr1 156738652 156738653 + Frame_Shift_Ins INS - - G rs760797871 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.52dup p.His18ProfsTer34 p.H18Pfs*34 ENST00000361531 2/6 NA NA NA NA NA NA MRPL24,frameshift_variant,p.His18ProfsTer34,ENST00000434558,;MRPL24,frameshift_variant,p.His18ProfsTer34,ENST00000361531,NM_024540.4,NM_145729.3;MRPL24,frameshift_variant,p.His18ProfsTer34,ENST00000368211,;MRPL24,frameshift_variant,p.His18ProfsTer34,ENST00000412846,;MRPL24,frameshift_variant,p.His18ProfsTer34,ENST00000420938,;HDGF,downstream_gene_variant,,ENST00000357325,NM_004494.3;HDGF,downstream_gene_variant,,ENST00000368206,NM_001126050.2,NM_001319186.2;HDGF,downstream_gene_variant,,ENST00000368209,NM_001126051.1;RRNAD1,downstream_gene_variant,,ENST00000368216,NM_015997.4;RRNAD1,downstream_gene_variant,,ENST00000368218,NM_001142560.2;RRNAD1,downstream_gene_variant,,ENST00000476229,;RRNAD1,downstream_gene_variant,,ENST00000519086,;RRNAD1,downstream_gene_variant,,ENST00000522237,;HDGF,downstream_gene_variant,,ENST00000537739,NM_001319187.1,NM_001319188.1;RRNAD1,downstream_gene_variant,,ENST00000462397,;HDGF,downstream_gene_variant,,ENST00000465180,;HDGF,downstream_gene_variant,,ENST00000477306,;MRPL24,upstream_gene_variant,,ENST00000478899,;RRNAD1,downstream_gene_variant,,ENST00000481920,;HDGF,downstream_gene_variant,,ENST00000482651,;RRNAD1,downstream_gene_variant,,ENST00000497515,; G ENSG00000143314 ENST00000361531 Transcript frameshift_variant 189-190/883 52-53/651 18/216 H/PX cat/cCat rs760797871 1 NA -1 MRPL24 HGNC HGNC:14037 protein_coding YES CCDS1155.1 ENSP00000354525 Q96A35.150 UPI0000071B7D NM_024540.4,NM_145729.3 2/6 PDB-ENSP_mappings:3j7y.V,PDB-ENSP_mappings:3j9m.V,PDB-ENSP_mappings:5ool.V,PDB-ENSP_mappings:5oom.V,PDB-ENSP_mappings:6nu2.V,PDB-ENSP_mappings:6nu3.V NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 insertion 1 NA NA NA . ATG . 717.64 6.734e-05 0.0001273 0.0001989 NA NA 4.686e-05 9.16e-06 NA 0.0002099 156738652 CD5L 922 . GRCh38 chr1 157836154 157836154 + Splice_Region SNP C C T rs143489369 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.57G>A p.Ala19= p.A19= ENST00000368174 3/6 NA NA NA NA NA NA CD5L,splice_region_variant,p.Ala19=,ENST00000368174,NM_001347698.2,NM_005894.3;CD5L,splice_region_variant,,ENST00000484609,; T ENSG00000073754 ENST00000368174 Transcript splice_region_variant,synonymous_variant 164/2204 57/1044 19/347 A gcG/gcA rs143489369 1 NA -1 CD5L HGNC HGNC:1690 protein_coding YES CCDS1171.1 ENSP00000357156 O43866.154 UPI000012738C NM_001347698.2,NM_005894.3 3/6 PANTHER:PTHR19331,PANTHER:PTHR19331:SF452 NA NA NA NA NA NA NA NA 0.0001163 NA NA NA NA LOW 1 SNV 1 NA NA NA . ACG . 251.6 4.92e-05 NA 2.922e-05 NA 0.0001091 NA 6.426e-05 0.0001681 3.343e-05 157836154 CD1C 911 . GRCh38 chr1 158292843 158292843 + Silent SNP T T C NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.858T>C p.Ser286= p.S286= ENST00000368170 4/6 NA NA NA NA NA NA CD1C,synonymous_variant,p.Ser286=,ENST00000368170,NM_001765.3;CD1C,synonymous_variant,p.Ser221=,ENST00000443761,; C ENSG00000158481 ENST00000368170 Transcript synonymous_variant 1000/2442 858/1002 286/333 S agT/agC COSV63807892 1 NA 1 CD1C HGNC HGNC:1636 protein_coding YES CCDS1175.1 ENSP00000357152 P29017.178 UPI000013DF78 NM_001765.3 4/6 Gene3D:2.60.40.10,PDB-ENSP_mappings:6c09.A,PDB-ENSP_mappings:6c15.A,Pfam:PF07654,PROSITE_profiles:PS50835,PANTHER:PTHR16675,PANTHER:PTHR16675:SF155,SMART:SM00407,Superfamily:SSF48726,CDD:cd07698 NA NA NA NA NA NA NA NA NA 1 NA NA NA NA LOW 1 SNV 1 NA 1 NA NA . GTC . 989.6 NA NA NA NA NA NA NA NA NA 158292843 CD1B 910 . GRCh38 chr1 158330834 158330834 + Missense_Mutation SNP C C T rs752275251 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.290G>A p.Arg97Gln p.R97Q ENST00000368168 2/6 NA NA NA NA NA NA CD1B,missense_variant,p.Arg97Gln,ENST00000368168,NM_001764.3;CD1B,missense_variant,p.Arg65Gln,ENST00000451207,; T ENSG00000158485 ENST00000368168 Transcript missense_variant 398/1391 290/1002 97/333 R/Q cGa/cAa rs752275251,COSV63804991 1 NA -1 CD1B HGNC HGNC:1635 protein_coding YES CCDS1176.1 ENSP00000357150 P29016.184 UPI0000127333 NM_001764.3 tolerated(0.8) benign(0.001) 2/6 PDB-ENSP_mappings:1gzp.A,PDB-ENSP_mappings:1gzq.A,PDB-ENSP_mappings:1uqs.A,PDB-ENSP_mappings:2h26.A,Gene3D:3.30.500.10,PDB-ENSP_mappings:3t8x.A,PDB-ENSP_mappings:3t8x.C,PDB-ENSP_mappings:5l2j.A,PDB-ENSP_mappings:5l2k.A,PDB-ENSP_mappings:5wke.A,PDB-ENSP_mappings:5wkg.A,PDB-ENSP_mappings:5wki.A,PDB-ENSP_mappings:5wl1.A,PDB-ENSP_mappings:6cug.A,PDB-ENSP_mappings:6d64.A,Pfam:PF16497,PANTHER:PTHR16675,PANTHER:PTHR16675:SF130,Superfamily:SSF54452 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 1 NA 0,1 NA NA . TCG . 1453.6 2.391e-05 NA NA NA NA NA 5.292e-05 NA NA 158330834 OR10T2 128360 . GRCh38 chr1 158398856 158398856 + Missense_Mutation SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.611G>A p.Ser204Asn p.S204N ENST00000334438 1/1 NA NA NA NA NA NA OR10T2,missense_variant,p.Ser204Asn,ENST00000334438,NM_001004475.1; T ENSG00000186306 ENST00000334438 Transcript missense_variant 611/945 611/945 204/314 S/N aGc/aAc 1 NA -1 OR10T2 HGNC HGNC:14816 protein_coding YES CCDS30895.1 ENSP00000334115 Q8NGX3.141 A0A126GV74.32 UPI000003F220 NM_001004475.1 deleterious(0.01) probably_damaging(0.911) 1/1 Gene3D:1.20.1070.10,Pfam:PF13853,Prints:PR00237,PROSITE_profiles:PS50262,PANTHER:PTHR26453,PANTHER:PTHR26453:SF622,Superfamily:SSF81321,Transmembrane_helices:TMhelix,CDD:cd15225 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV NA NA NA NA . GCT . 2425.6 NA NA NA NA NA NA NA NA NA 158398856 OR6P1 128366 . GRCh38 chr1 158563509 158563509 + Frame_Shift_Del DEL A A - rs201077183 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.96del p.Phe32LeufsTer6 p.F32Lfs*6 ENST00000641540 3/3 NA NA NA NA NA NA OR6P1,frameshift_variant,p.Phe32LeufsTer6,ENST00000641540,;OR6P1,frameshift_variant,p.Phe32LeufsTer6,ENST00000334632,NM_001160325.1;,regulatory_region_variant,,ENSR00000931749,; - ENSG00000186440 ENST00000641540 Transcript frameshift_variant 352/3255 96/954 32/317 F/X ttT/tt rs201077183 1 NA -1 OR6P1 HGNC HGNC:15036 protein_coding YES CCDS53391.1 ENSP00000492936 Q8NGX9.136 A0A126GV72.33 UPI000004B1FF 3/3 Gene3D:1.20.1070.10,Pfam:PF13853,Prints:PR00237,PANTHER:PTHR26453,PANTHER:PTHR26453:SF73,Superfamily:SSF81321,Transmembrane_helices:TMhelix,Low_complexity_(Seg):seg NA NA NA NA NA NA NA 0.006742 0.003296 NA NA NA NA HIGH 1 deletion NA NA NA NA . GCAA . 1051.64 2.122e-05 NA NA 0.000124 NA NA 1.804e-05 NA 4.882e-05 158563508 MNDA 4332 . GRCh38 chr1 158847739 158847739 + Missense_Mutation SNP C C A novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.999C>A p.His333Gln p.H333Q ENST00000368141 6/7 NA NA NA NA NA NA MNDA,missense_variant,p.His333Gln,ENST00000368141,NM_002432.3;MNDA,missense_variant,p.His39Gln,ENST00000438394,; A ENSG00000163563 ENST00000368141 Transcript missense_variant 1226/1716 999/1224 333/407 H/Q caC/caA 1 NA 1 MNDA HGNC HGNC:7183 protein_coding YES CCDS1177.1 ENSP00000357123 P41218.166 Q5VUU6.123 UPI0000001609 NM_002432.3 deleterious(0.02) benign(0.194) 6/7 Gene3D:2.40.50.140,Pfam:PF02760,PROSITE_profiles:PS50834,PANTHER:PTHR12200,PANTHER:PTHR12200:SF25,Superfamily:SSF159141 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . ACA . 202.6 NA NA NA NA NA NA NA NA NA 158847739 IGSF9 57549 . GRCh38 chr1 159943056 159943056 + Frame_Shift_Del DEL G G - rs753928344 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.154del p.Leu52CysfsTer79 p.L52Cfs*79 ENST00000368094 3/21 NA NA NA NA NA NA IGSF9,frameshift_variant,p.Leu52CysfsTer79,ENST00000368094,NM_001135050.2;IGSF9,frameshift_variant,p.Leu52CysfsTer79,ENST00000361509,NM_020789.4;IGSF9,frameshift_variant,p.Leu52CysfsTer79,ENST00000611023,;IGSF9,non_coding_transcript_exon_variant,,ENST00000476102,;,regulatory_region_variant,,ENSR00000014476,; - ENSG00000085552 ENST00000368094 Transcript frameshift_variant 369/4059 154/3540 52/1179 L/X Ctg/tg rs753928344 1 NA -1 IGSF9 HGNC HGNC:18132 protein_coding YES CCDS44254.1 ENSP00000357073 Q9P2J2.154 UPI000004A10B NM_001135050.2 3/21 Gene3D:2.60.40.10,PROSITE_profiles:PS50835,PANTHER:PTHR44170,PANTHER:PTHR44170:SF19,SMART:SM00408,SMART:SM00409,Superfamily:SSF48726,CDD:cd00096 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 NA NA NA . CAGG . 3106.6 1.632e-05 NA 2.952e-05 NA NA NA 2.735e-05 NA NA 159943055 KCNJ9 3765 . GRCh38 chr1 160087733 160087733 + Silent SNP G G T rs1186016944 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1098G>T p.Ala366= p.A366= ENST00000368088 3/3 NA NA NA NA NA NA KCNJ9,synonymous_variant,p.Ala366=,ENST00000368088,NM_004983.3;IGSF8,downstream_gene_variant,,ENST00000314485,NM_052868.6,NM_001320247.2;IGSF8,downstream_gene_variant,,ENST00000368086,;IGSF8,downstream_gene_variant,,ENST00000614243,NM_001206665.2; T ENSG00000162728 ENST00000368088 Transcript synonymous_variant 1372/4202 1098/1182 366/393 A gcG/gcT rs1186016944 1 NA 1 KCNJ9 HGNC HGNC:6270 protein_coding YES CCDS1194.1 ENSP00000357067 Q92806.172 UPI000013E1B3 NM_004983.3 3/3 PIRSF:PIRSF005465,PANTHER:PTHR11767,PANTHER:PTHR11767:SF17,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . CGG . 37.6 NA NA NA NA NA NA NA NA NA 160087733 KCNJ9 3765 . GRCh38 chr1 160087745 160087745 + Silent SNP G G A rs767689956 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1110G>A p.Ala370= p.A370= ENST00000368088 3/3 NA NA NA NA NA NA KCNJ9,synonymous_variant,p.Ala370=,ENST00000368088,NM_004983.3;IGSF8,downstream_gene_variant,,ENST00000314485,NM_052868.6,NM_001320247.2;IGSF8,downstream_gene_variant,,ENST00000368086,;IGSF8,downstream_gene_variant,,ENST00000614243,NM_001206665.2; A ENSG00000162728 ENST00000368088 Transcript synonymous_variant 1384/4202 1110/1182 370/393 A gcG/gcA rs767689956 1 NA 1 KCNJ9 HGNC HGNC:6270 protein_coding YES CCDS1194.1 ENSP00000357067 Q92806.172 UPI000013E1B3 NM_004983.3 3/3 PIRSF:PIRSF005465,PANTHER:PTHR11767,PANTHER:PTHR11767:SF17,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . CGG . 76.6 NA NA NA NA NA NA NA NA NA 160087745 KCNJ9 3765 . GRCh38 chr1 160087750 160087750 + Missense_Mutation SNP G G C novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1115G>C p.Gly372Ala p.G372A ENST00000368088 3/3 NA NA NA NA NA NA KCNJ9,missense_variant,p.Gly372Ala,ENST00000368088,NM_004983.3;IGSF8,downstream_gene_variant,,ENST00000314485,NM_052868.6,NM_001320247.2;IGSF8,downstream_gene_variant,,ENST00000368086,;IGSF8,downstream_gene_variant,,ENST00000614243,NM_001206665.2; C ENSG00000162728 ENST00000368088 Transcript missense_variant 1389/4202 1115/1182 372/393 G/A gGg/gCg 1 NA 1 KCNJ9 HGNC HGNC:6270 protein_coding YES CCDS1194.1 ENSP00000357067 Q92806.172 UPI000013E1B3 NM_004983.3 tolerated(0.41) benign(0) 3/3 PIRSF:PIRSF005465,PANTHER:PTHR11767,PANTHER:PTHR11767:SF17,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . GGG . 31.6 NA NA NA NA NA NA NA NA NA 160087750 NHLH1 4807 . GRCh38 chr1 160371110 160371110 + Missense_Mutation SNP C C A novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.379C>A p.Leu127Met p.L127M ENST00000302101 2/2 NA NA NA NA NA NA NHLH1,missense_variant,p.Leu127Met,ENST00000302101,NM_005598.4; A ENSG00000171786 ENST00000302101 Transcript missense_variant 821/2557 379/402 127/133 L/M Ctg/Atg 1 NA 1 NHLH1 HGNC HGNC:7817 protein_coding YES CCDS1204.1 ENSP00000302189 Q02575.164 Q5T203.135 UPI000012C5FE NM_005598.4 deleterious(0) probably_damaging(0.967) 2/2 Gene3D:4.10.280.10,Pfam:PF00010,PROSITE_profiles:PS50888,PANTHER:PTHR13864,PANTHER:PTHR13864:SF20,SMART:SM00353,Superfamily:SSF47459,CDD:cd00083 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CCT . 1597.6 NA NA NA NA NA NA NA NA NA 160371110 SLAMF1 6504 . GRCh38 chr1 160619810 160619811 + Frame_Shift_Ins INS - - T rs751442558 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.912dup p.Ala305SerfsTer? p.A305Sfs*? ENST00000538290 6/8 NA NA NA NA NA NA SLAMF1,frameshift_variant,p.Ser277LysfsTer19,ENST00000302035,NM_003037.4;SLAMF1,frameshift_variant,p.Ala305SerfsTer?,ENST00000538290,NM_001330754.1;SLAMF1,intron_variant,,ENST00000235739,; T ENSG00000117090 ENST00000538290 Transcript frameshift_variant 925-926/1087 912-913/1074 304-305/357 -/X -/A rs751442558 1 NA -1 SLAMF1 HGNC HGNC:10903 protein_coding YES CCDS81389.1 ENSP00000438406 Q13291.188 UPI0003E1547F NM_001330754.1 6/8 PANTHER:PTHR12080,PANTHER:PTHR12080:SF49 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 insertion 1 NA NA NA . GCT . 1319.64 2.431e-05 NA NA NA NA NA 4.468e-05 0.0001673 NA 160619810 USP21 27005 . GRCh38 chr1 161162625 161162625 + Silent SNP T T C novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.792T>C p.Asp264= p.D264= ENST00000368002 6/14 NA NA NA NA NA NA USP21,synonymous_variant,p.Asp264=,ENST00000368002,NM_001014443.3;USP21,synonymous_variant,p.Asp264=,ENST00000289865,NM_001319847.2,NM_012475.5;USP21,synonymous_variant,p.Asp264=,ENST00000368001,NM_001319848.2;PPOX,upstream_gene_variant,,ENST00000352210,NM_000309.5;PPOX,upstream_gene_variant,,ENST00000367999,NM_001350128.2,NM_001122764.3,NM_001365398.1;UFC1,downstream_gene_variant,,ENST00000368003,NM_016406.4;PPOX,upstream_gene_variant,,ENST00000462866,;USP21,downstream_gene_variant,,ENST00000479344,;USP21,downstream_gene_variant,,ENST00000492950,;PPOX,upstream_gene_variant,,ENST00000497522,;PPOX,upstream_gene_variant,,ENST00000535223,;PPOX,upstream_gene_variant,,ENST00000544598,;PPOX,upstream_gene_variant,,ENST00000652103,NM_001350130.2,NM_001350129.2,NM_001350131.2,NM_001365400.1,NM_001365401.1;PPOX,upstream_gene_variant,,ENST00000652182,NM_001365399.1;PPOX,upstream_gene_variant,,ENST00000652729,;AL590714.1,upstream_gene_variant,,ENST00000420498,;UFC1,downstream_gene_variant,,ENST00000467540,;UFC1,downstream_gene_variant,,ENST00000473766,;UFC1,downstream_gene_variant,,ENST00000483191,;USP21,3_prime_UTR_variant,,ENST00000486299,;USP21,non_coding_transcript_exon_variant,,ENST00000487163,;USP21,non_coding_transcript_exon_variant,,ENST00000482385,;PPOX,upstream_gene_variant,,ENST00000468968,;PPOX,upstream_gene_variant,,ENST00000470607,;PPOX,upstream_gene_variant,,ENST00000479246,;USP21,upstream_gene_variant,,ENST00000485277,;PPOX,upstream_gene_variant,,ENST00000490768,;USP21,upstream_gene_variant,,ENST00000493054,;PPOX,upstream_gene_variant,,ENST00000495483,;PPOX,upstream_gene_variant,,ENST00000539753,;PPOX,upstream_gene_variant,,ENST00000650741,;PPOX,upstream_gene_variant,,ENST00000651150,;PPOX,upstream_gene_variant,,ENST00000652297,;PPOX,upstream_gene_variant,,ENST00000652473,; C ENSG00000143258 ENST00000368002 Transcript synonymous_variant 1133/2315 792/1698 264/565 D gaT/gaC 1 NA 1 USP21 HGNC HGNC:12620 protein_coding YES CCDS30920.1 ENSP00000356981 Q9UK80.185 UPI00001379FD NM_001014443.3 6/14 PDB-ENSP_mappings:2y5b.A,PDB-ENSP_mappings:2y5b.E,Gene3D:3.90.70.10,PDB-ENSP_mappings:3i3t.A,PDB-ENSP_mappings:3i3t.C,PDB-ENSP_mappings:3i3t.E,PDB-ENSP_mappings:3i3t.G,PDB-ENSP_mappings:3mtn.A,PDB-ENSP_mappings:3mtn.C,Pfam:PF00443,PROSITE_profiles:PS50235,PANTHER:PTHR21646,PANTHER:PTHR21646:SF6,Superfamily:SSF54001,CDD:cd02674 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . ATG . 2074.6 NA NA NA NA NA NA NA NA NA 161162625 FCRLB 127943 . GRCh38 chr1 161726856 161726856 + Missense_Mutation SNP T T C rs1440791786 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.728T>C p.Val243Ala p.V243A ENST00000367948 7/8 NA NA NA NA NA NA FCRLB,missense_variant,p.Val243Ala,ENST00000367948,NM_001002901.3,NM_001320241.1;FCRLB,missense_variant,p.Cys195Arg,ENST00000367946,NM_001288829.1;FCRLB,missense_variant,p.Cys188Arg,ENST00000367945,NM_001288830.1;FCRLB,synonymous_variant,p.Gly208=,ENST00000336830,NM_001288831.1;FCRLB,synonymous_variant,p.Gly201=,ENST00000367944,NM_001288832.1;FCRLB,non_coding_transcript_exon_variant,,ENST00000495397,;,regulatory_region_variant,,ENSR00000014733,; C ENSG00000162746 ENST00000367948 Transcript missense_variant 943/1977 728/1281 243/426 V/A gTg/gCg rs1440791786 1 NA 1 FCRLB HGNC HGNC:26431 protein_coding YES CCDS30927.1 ENSP00000356925 Q6BAA4.135 UPI00003FF782 NM_001002901.3,NM_001320241.1 tolerated(0.06) possibly_damaging(0.482) 7/8 Gene3D:2.60.40.10,PANTHER:PTHR11481,PANTHER:PTHR11481:SF64 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . GTG . 4476.6 NA NA NA NA NA NA NA NA NA 161726856 RXRG 6258 . GRCh38 chr1 165409600 165409600 + Missense_Mutation SNP C C T rs757609630 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1004G>A p.Arg335Gln p.R335Q ENST00000359842 7/10 NA NA NA NA NA NA RXRG,missense_variant,p.Arg212Gln,ENST00000619224,NM_001256570.1,NM_001256571.2;RXRG,missense_variant,p.Arg335Gln,ENST00000359842,NM_006917.5;RXRG,downstream_gene_variant,,ENST00000470566,; T ENSG00000143171 ENST00000359842 Transcript missense_variant 1237/1966 1004/1392 335/463 R/Q cGg/cAg rs757609630 1 NA -1 RXRG HGNC HGNC:10479 protein_coding YES CCDS1248.1 ENSP00000352900 P48443.198 F1D8Q7.86 UPI000004989F NM_006917.5 deleterious(0.01) probably_damaging(0.994) 7/10 Gene3D:1.10.565.10,PDB-ENSP_mappings:2gl8.A,PDB-ENSP_mappings:2gl8.B,PDB-ENSP_mappings:2gl8.C,PDB-ENSP_mappings:2gl8.D,Pfam:PF00104,Prints:PR00545,PROSITE_profiles:PS51843,PANTHER:PTHR24083,PANTHER:PTHR24083:SF100,SMART:SM00430,Superfamily:SSF48508,CDD:cd06943 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CCG . 2395.6 9.251e-06 NA NA NA NA NA 9.909e-06 NA 4.079e-05 165409600 RXRG 6258 . GRCh38 chr1 165419996 165419996 + Missense_Mutation SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.316G>A p.Val106Ile p.V106I ENST00000359842 3/10 NA NA NA NA NA NA RXRG,missense_variant,p.Val106Ile,ENST00000359842,NM_006917.5;RXRG,5_prime_UTR_variant,,ENST00000619224,NM_001256570.1,NM_001256571.2;RXRG,non_coding_transcript_exon_variant,,ENST00000470566,; T ENSG00000143171 ENST00000359842 Transcript missense_variant 549/1966 316/1392 106/463 V/I Gtc/Atc 1 NA -1 RXRG HGNC HGNC:10479 protein_coding YES CCDS1248.1 ENSP00000352900 P48443.198 F1D8Q7.86 UPI000004989F NM_006917.5 tolerated(0.12) benign(0.015) 3/10 Pfam:PF11825,PANTHER:PTHR24083,PANTHER:PTHR24083:SF100,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . ACA . 2642.6 NA NA NA NA NA NA NA NA NA 165419996 ILDR2 387597 . GRCh38 chr1 166920884 166920884 + Silent SNP C C T rs1286603222 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1707G>A p.Ser569= p.S569= ENST00000271417 9/10 NA NA NA NA NA NA ILDR2,synonymous_variant,p.Ser569=,ENST00000271417,NM_199351.3;ILDR2,synonymous_variant,p.Ser550=,ENST00000529071,;ILDR2,synonymous_variant,p.Ser510=,ENST00000528703,;ILDR2,synonymous_variant,p.Ser461=,ENST00000526687,;ILDR2,synonymous_variant,p.Ser442=,ENST00000525740,;ILDR2,intron_variant,,ENST00000469934,;ILDR2,intron_variant,,ENST00000529387,;ILDR2,upstream_gene_variant,,ENST00000614979,; T ENSG00000143195 ENST00000271417 Transcript synonymous_variant 1979/13360 1707/1920 569/639 S tcG/tcA rs1286603222 1 NA -1 ILDR2 HGNC HGNC:18131 protein_coding YES CCDS1256.1 ENSP00000271417 Q71H61.128 UPI00002317DF NM_199351.3 9/10 PANTHER:PTHR15923,PANTHER:PTHR15923:SF0,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . GCG . 2281.6 1.082e-05 NA NA NA NA NA NA NA 5.582e-05 166920884 NME7 29922 . GRCh38 chr1 169310040 169310040 + Missense_Mutation SNP C C T rs1265420654 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.319G>A p.Gly107Arg p.G107R ENST00000367811 4/12 NA NA NA NA NA NA NME7,missense_variant,p.Gly71Arg,ENST00000472647,NM_197972.2;NME7,missense_variant,p.Gly107Arg,ENST00000367811,NM_013330.5;Z99758.1,upstream_gene_variant,,ENST00000432081,;NME7,non_coding_transcript_exon_variant,,ENST00000469474,;NME7,non_coding_transcript_exon_variant,,ENST00000491225,;NME7,non_coding_transcript_exon_variant,,ENST00000480478,;NME7,non_coding_transcript_exon_variant,,ENST00000485609,;NME7,non_coding_transcript_exon_variant,,ENST00000483228,;NME7,missense_variant,p.Gly107Arg,ENST00000525440,;NME7,missense_variant,p.Gly107Arg,ENST00000528517,;NME7,non_coding_transcript_exon_variant,,ENST00000524967,;NME7,non_coding_transcript_exon_variant,,ENST00000527460,;,regulatory_region_variant,,ENSR00000376781,; T ENSG00000143156 ENST00000367811 Transcript missense_variant 406/1472 319/1131 107/376 G/R Gga/Aga rs1265420654 1 NA -1 NME7 HGNC HGNC:20461 protein_coding YES CCDS1277.1 ENSP00000356785 Q9Y5B8.173 UPI000012FE8C NM_013330.5 deleterious(0) probably_damaging(1) 4/12 Gene3D:3.30.70.141,Pfam:PF00334,PIRSF:PIRSF036503,PANTHER:PTHR43109,PANTHER:PTHR43109:SF2,SMART:SM00562,Superfamily:SSF54919,CDD:cd04415 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . CCA . 810.6 4.042e-06 NA 2.989e-05 NA NA NA NA NA NA 169310040 SLC19A2 10560 . GRCh38 chr1 169477305 169477305 + Silent SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.657C>T p.His219= p.H219= ENST00000236137 2/6 NA NA NA NA NA NA SLC19A2,synonymous_variant,p.His219=,ENST00000236137,NM_006996.3;SLC19A2,synonymous_variant,p.His219=,ENST00000646596,;SLC19A2,intron_variant,,ENST00000367804,NM_001319667.1;AL021068.1,upstream_gene_variant,,ENST00000452472,; A ENSG00000117479 ENST00000236137 Transcript synonymous_variant 835/3612 657/1494 219/497 H caC/caT 1 NA -1 SLC19A2 HGNC HGNC:10938 protein_coding YES CCDS1280.1 ENSP00000236137 O60779.179 A0A024R928.41 UPI0000036177 NM_006996.3 2/6 Pfam:PF01770,PIRSF:PIRSF028739,PIRSF:PIRSF500794,PANTHER:PTHR10686,PANTHER:PTHR10686:SF19,Superfamily:SSF103473 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . TGT . 18203.6 NA NA NA NA NA NA NA NA NA 169477305 SELL 6402 . GRCh38 chr1 169701582 169701582 + Nonsense_Mutation SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1098G>A p.Trp366Ter p.W366* ENST00000650983 7/9 NA NA NA NA NA NA SELL,stop_gained,p.Trp366Ter,ENST00000650983,;SELL,stop_gained,p.Trp353Ter,ENST00000236147,NM_000655.5;SELL,intron_variant,,ENST00000497295,;C1orf112,intron_variant,,ENST00000498289,;SELL,downstream_gene_variant,,ENST00000460650,;SELL,downstream_gene_variant,,ENST00000479657,;SELL,non_coding_transcript_exon_variant,,ENST00000463108,;SELL,downstream_gene_variant,,ENST00000466340,; T ENSG00000188404 ENST00000650983 Transcript stop_gained 1263/2442 1098/1158 366/385 W/* tgG/tgA 1 NA -1 SELL HGNC HGNC:10720 protein_coding YES CCDS53427.1 ENSP00000498227 P14151.220 UPI000007083D 7/9 PIRSF:PIRSF002421,PANTHER:PTHR19325,PANTHER:PTHR19325:SF496,Transmembrane_helices:TMhelix NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 SNV NA NA NA NA . GCC . 1260.6 NA NA NA NA NA NA NA NA NA 169701582 KIFAP3 22920 . GRCh38 chr1 170046750 170046750 + Missense_Mutation SNP T T C novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.281A>G p.Tyr94Cys p.Y94C ENST00000361580 3/20 NA NA NA NA NA NA KIFAP3,missense_variant,p.Tyr54Cys,ENST00000367765,NM_001204517.1;KIFAP3,missense_variant,p.Tyr94Cys,ENST00000361580,NM_014970.4,NM_001375830.1,NM_001375831.1;KIFAP3,missense_variant,p.Tyr50Cys,ENST00000367767,NM_001204516.1;KIFAP3,5_prime_UTR_variant,,ENST00000538366,NM_001204514.1;KIFAP3,non_coding_transcript_exon_variant,,ENST00000490550,; C ENSG00000075945 ENST00000361580 Transcript missense_variant 509/2954 281/2379 94/792 Y/C tAc/tGc 1 NA -1 KIFAP3 HGNC HGNC:17060 protein_coding YES CCDS1288.1 ENSP00000354560 Q92845.170 UPI000006CD6C NM_014970.4,NM_001375830.1,NM_001375831.1 deleterious(0) possibly_damaging(0.819) 3/20 Pfam:PF05804,PANTHER:PTHR15605,SMART:SM01297 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . GTA . 2378.6 NA NA NA NA NA NA NA NA NA 170046750 CENPL 91687 . GRCh38 chr1 173807323 173807323 + Frame_Shift_Del DEL A A - novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.364del p.Ser122LeufsTer4 p.S122Lfs*4 ENST00000356198 4/7 NA NA NA NA NA NA CENPL,frameshift_variant,p.Ser122LeufsTer4,ENST00000356198,NM_001127181.2;CENPL,frameshift_variant,p.Ser122LeufsTer4,ENST00000345664,NM_001171182.1;CENPL,frameshift_variant,p.Ser122LeufsTer4,ENST00000367710,NM_033319.3;Y_RNA,upstream_gene_variant,,ENST00000516548,;CENPL,non_coding_transcript_exon_variant,,ENST00000496683,;CENPL,non_coding_transcript_exon_variant,,ENST00000460816,;CENPL,non_coding_transcript_exon_variant,,ENST00000479159,;CENPL,intron_variant,,ENST00000484920,;CENPL,downstream_gene_variant,,ENST00000493233,; - ENSG00000120334 ENST00000356198 Transcript frameshift_variant 650/2357 364/1173 122/390 S/X Tct/ct 1 NA -1 CENPL HGNC HGNC:17879 protein_coding YES CCDS44277.1 ENSP00000348527 Q8N0S6.128 UPI000006ED4D NM_001127181.2 4/7 PANTHER:PTHR31740 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 NA NA NA . AGAA . 1562.6 NA NA NA NA NA NA NA NA NA 173807322 DARS2 55157 . GRCh38 chr1 173833472 173833472 + Missense_Mutation SNP A A C novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.589A>C p.Met197Leu p.M197L ENST00000649689 6/17 NA NA NA NA NA NA DARS2,missense_variant,p.Met197Leu,ENST00000649067,;DARS2,missense_variant,p.Met197Leu,ENST00000649689,NM_018122.5;DARS2,missense_variant,p.Met197Leu,ENST00000647645,;DARS2,missense_variant,p.Met197Leu,ENST00000648807,NM_001365212.1;DARS2,missense_variant,p.Met197Leu,ENST00000648960,;DARS2,missense_variant,p.Met197Leu,ENST00000648458,NM_001365213.2;DARS2,missense_variant,p.Met16Leu,ENST00000649106,;DARS2,3_prime_UTR_variant,,ENST00000648271,;DARS2,3_prime_UTR_variant,,ENST00000647730,;DARS2,3_prime_UTR_variant,,ENST00000471476,;DARS2,3_prime_UTR_variant,,ENST00000647788,;DARS2,non_coding_transcript_exon_variant,,ENST00000650297,;DARS2,downstream_gene_variant,,ENST00000648055,; C ENSG00000117593 ENST00000649689 Transcript missense_variant 1146/3336 589/1938 197/645 M/L Atg/Ctg 1 NA 1 DARS2 HGNC HGNC:25538 protein_coding YES CCDS1311.1 ENSP00000497569 Q6PI48.161 UPI00001C1D5B NM_018122.5 tolerated(0.05) benign(0.078) 6/17 Gene3D:3.30.930.10,HAMAP:MF_00044,Pfam:PF00152,PROSITE_profiles:PS50862,PANTHER:PTHR22594,PANTHER:PTHR22594:SF5,Superfamily:SSF55681,TIGRFAM:TIGR00459,CDD:cd00777 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV NA NA NA 1 . AAT . 229.6 NA NA NA NA NA NA NA NA NA 173833472 RC3H1 149041 . GRCh38 chr1 173992895 173992895 + Missense_Mutation SNP A A T novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.91T>A p.Leu31Met p.L31M ENST00000367696 2/20 NA NA NA NA NA NA RC3H1,missense_variant,p.Leu31Met,ENST00000367696,NM_172071.4;RC3H1,missense_variant,p.Leu31Met,ENST00000258349,NM_001300850.1;RC3H1,missense_variant,p.Leu31Met,ENST00000367694,NM_001300852.1,NM_001300851.1; T ENSG00000135870 ENST00000367696 Transcript missense_variant 503/11451 91/3402 31/1133 L/M Ttg/Atg 1 NA -1 RC3H1 HGNC HGNC:29434 protein_coding YES CCDS30940.1 ENSP00000356669 Q5TC82.139 UPI00001D7DA8 NM_172071.4 deleterious(0) probably_damaging(1) 2/20 Gene3D:3.30.40.10,Pfam:PF13445,PROSITE_profiles:PS50089,PANTHER:PTHR13139,PANTHER:PTHR13139:SF6,SMART:SM00184,Superfamily:SSF57850,CDD:cd16638 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . AAA . 979.6 NA NA NA NA NA NA NA NA NA 173992895 TNR 7143 . GRCh38 chr1 175363815 175363815 + Frame_Shift_Del DEL G G - rs1557886412 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2600del p.Pro867GlnfsTer9 p.P867Qfs*9 ENST00000367674 13/23 NA NA NA NA NA NA TNR,frameshift_variant,p.Pro867GlnfsTer9,ENST00000367674,NM_001328635.2,NM_003285.3;TNR,frameshift_variant,p.Pro867GlnfsTer9,ENST00000263525,; - ENSG00000116147 ENST00000367674 Transcript frameshift_variant 3134/12774 2600/4077 867/1358 P/X cCa/ca rs1557886412 1 NA -1 TNR HGNC HGNC:11953 protein_coding YES CCDS1318.1 ENSP00000356646 Q92752.175 UPI000013D41C NM_001328635.2,NM_003285.3 13/23 Gene3D:2.60.40.10,Pfam:PF00041,PROSITE_profiles:PS50853,PANTHER:PTHR19143,PANTHER:PTHR19143:SF254,SMART:SM00060,Superfamily:SSF49265,CDD:cd00063 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 5 NA NA NA . TTGG . 489.6 NA NA NA NA NA NA NA NA NA 175363814 TNR 7143 . GRCh38 chr1 175393827 175393827 + Missense_Mutation SNP G G A NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1309C>T p.Pro437Ser p.P437S ENST00000367674 6/23 NA NA NA NA NA NA TNR,missense_variant,p.Pro437Ser,ENST00000367674,NM_001328635.2,NM_003285.3;TNR,missense_variant,p.Pro437Ser,ENST00000263525,;TNR,missense_variant,p.Pro162Ser,ENST00000422274,; A ENSG00000116147 ENST00000367674 Transcript missense_variant 1843/12774 1309/4077 437/1358 P/S Ccc/Tcc COSV54890024 1 NA -1 TNR HGNC HGNC:11953 protein_coding YES CCDS1318.1 ENSP00000356646 Q92752.175 UPI000013D41C NM_001328635.2,NM_003285.3 deleterious(0.05) probably_damaging(1) 6/23 Gene3D:2.60.40.10,Pfam:PF00041,PROSITE_profiles:PS50853,PANTHER:PTHR19143,PANTHER:PTHR19143:SF254,SMART:SM00060,Superfamily:SSF49265,CDD:cd00063 NA NA NA NA NA NA NA NA NA 1 NA NA NA NA MODERATE 1 SNV 5 NA 1 NA NA . GGC . 941.6 NA NA NA NA NA NA NA NA NA 175393827 COP1 64326 . GRCh38 chr1 176184665 176184665 + Silent SNP T T C novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.435A>G p.Glu145= p.E145= ENST00000367669 2/20 NA NA NA NA NA NA COP1,synonymous_variant,p.Glu145=,ENST00000367669,NM_001286644.1,NM_022457.7;COP1,synonymous_variant,p.Glu145=,ENST00000308769,NM_001001740.3;COP1,synonymous_variant,p.Glu4=,ENST00000498306,;COP1,upstream_gene_variant,,ENST00000367666,;COP1,synonymous_variant,p.Glu50=,ENST00000367667,;COP1,synonymous_variant,p.Glu145=,ENST00000474194,;COP1,synonymous_variant,p.Glu4=,ENST00000491600,;COP1,3_prime_UTR_variant,,ENST00000649803,; C ENSG00000143207 ENST00000367669 Transcript synonymous_variant 743/2826 435/2196 145/731 E gaA/gaG 1 NA -1 COP1 HGNC HGNC:17440 protein_coding YES CCDS30944.1 ENSP00000356641 Q8NHY2.169 UPI0000061E51 NM_001286644.1,NM_022457.7 2/20 Gene3D:3.30.40.10,Pfam:PF13923,PROSITE_profiles:PS50089,PANTHER:PTHR44080,PANTHER:PTHR44080:SF1,SMART:SM00184,Superfamily:SSF57850,CDD:cd16504 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . CTT . 45.6 NA NA NA NA NA NA NA NA NA 176184665 COP1 64326 . GRCh38 chr1 176184668 176184668 + Silent SNP T T C novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.432A>G p.Glu144= p.E144= ENST00000367669 2/20 NA NA NA NA NA NA COP1,synonymous_variant,p.Glu144=,ENST00000367669,NM_001286644.1,NM_022457.7;COP1,synonymous_variant,p.Glu144=,ENST00000308769,NM_001001740.3;COP1,synonymous_variant,p.Glu3=,ENST00000498306,;COP1,upstream_gene_variant,,ENST00000367666,;COP1,synonymous_variant,p.Glu49=,ENST00000367667,;COP1,synonymous_variant,p.Glu144=,ENST00000474194,;COP1,synonymous_variant,p.Glu3=,ENST00000491600,;COP1,3_prime_UTR_variant,,ENST00000649803,; C ENSG00000143207 ENST00000367669 Transcript synonymous_variant 740/2826 432/2196 144/731 E gaA/gaG 1 NA -1 COP1 HGNC HGNC:17440 protein_coding YES CCDS30944.1 ENSP00000356641 Q8NHY2.169 UPI0000061E51 NM_001286644.1,NM_022457.7 2/20 Gene3D:3.30.40.10,Pfam:PF13923,PROSITE_profiles:PS50089,PANTHER:PTHR44080,PANTHER:PTHR44080:SF1,SMART:SM00184,Superfamily:SSF57850,CDD:cd16504 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . CTT . 45.6 NA NA NA NA NA NA NA NA NA 176184668 BRINP2 57795 . GRCh38 chr1 177281066 177281066 + Silent SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1890C>T p.Thr630= p.T630= ENST00000361539 8/8 NA NA NA NA NA NA BRINP2,synonymous_variant,p.Thr630=,ENST00000361539,NM_021165.4;BRINP2,non_coding_transcript_exon_variant,,ENST00000478325,; T ENSG00000198797 ENST00000361539 Transcript synonymous_variant 2741/4097 1890/2352 630/783 T acC/acT 1 NA 1 BRINP2 HGNC HGNC:13746 protein_coding YES CCDS1320.1 ENSP00000354481 Q9C0B6.121 UPI000006DF55 NM_021165.4 8/8 Pfam:PF19052,PANTHER:PTHR15564,PANTHER:PTHR15564:SF8 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . CCT . 2490.6 NA NA NA NA NA NA NA NA NA 177281066 RASAL2 9462 . GRCh38 chr1 178442906 178442906 + Frame_Shift_Del DEL A A - rs771909008 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1166del p.Lys389ArgfsTer7 p.K389Rfs*7 ENST00000367649 8/18 NA NA NA NA NA NA RASAL2,frameshift_variant,p.Lys241ArgfsTer7,ENST00000462775,NM_004841.5;RASAL2,frameshift_variant,p.Lys389ArgfsTer7,ENST00000367649,NM_170692.4; - ENSG00000075391 ENST00000367649 Transcript frameshift_variant 1548/9843 1159/3843 387/1280 K/X Aaa/aa rs771909008 1 NA 1 RASAL2 HGNC HGNC:9874 protein_coding YES CCDS1321.2 ENSP00000356621 Q9UJF2.167 UPI00019B254F NM_170692.4 8/18 Gene3D:2.60.40.150,Pfam:PF00168,PANTHER:PTHR10194,PANTHER:PTHR10194:SF52,SMART:SM00239,Superfamily:SSF49562,CDD:cd04013,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 7 NA NA . AGAA . 3570.6 NA NA NA NA NA NA NA NA NA 178442905 ANGPTL1 9068 . GRCh38 chr1 178852695 178852695 + Missense_Mutation SNP C C A novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1276G>T p.Asp426Tyr p.D426Y ENST00000234816 5/6 NA NA NA NA NA NA ANGPTL1,missense_variant,p.Asp426Tyr,ENST00000234816,NM_004673.4;ANGPTL1,missense_variant,p.Asp426Tyr,ENST00000367629,NM_001376763.1;RALGPS2,intron_variant,,ENST00000324778,;RALGPS2,intron_variant,,ENST00000367634,NM_001286247.1;RALGPS2,intron_variant,,ENST00000367635,NM_152663.5;RALGPS2,intron_variant,,ENST00000495034,; A ENSG00000116194 ENST00000234816 Transcript missense_variant 1749/3543 1276/1476 426/491 D/Y Gat/Tat 1 NA -1 ANGPTL1 HGNC HGNC:489 protein_coding YES CCDS1327.1 ENSP00000234816 O95841.143 UPI000004C64E NM_004673.4 deleterious(0) probably_damaging(1) 5/6 Gene3D:3.90.215.20,Pfam:PF00147,PROSITE_profiles:PS51406,PANTHER:PTHR19143,PANTHER:PTHR19143:SF25,SMART:SM00186,Superfamily:SSF56496,CDD:cd00087 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . TCT . 1157.6 NA NA NA NA NA NA NA NA NA 178852695 QSOX1 5768 . GRCh38 chr1 180175978 180175978 + Silent SNP C C T rs145919632 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.460C>T p.Leu154= p.L154= ENST00000367602 4/12 NA NA NA NA NA NA QSOX1,synonymous_variant,p.Leu154=,ENST00000367602,NM_002826.5;QSOX1,synonymous_variant,p.Leu154=,ENST00000367600,NM_001004128.2;QSOX1,intron_variant,,ENST00000392029,;,regulatory_region_variant,,ENSR00000016520,; T ENSG00000116260 ENST00000367602 Transcript synonymous_variant 499/9276 460/2244 154/747 L Ctg/Ttg rs145919632 1 NA 1 QSOX1 HGNC HGNC:9756 protein_coding YES CCDS1337.1 ENSP00000356574 O00391.175 UPI000004C63C NM_002826.5 4/12 Gene3D:3.40.30.10,PDB-ENSP_mappings:3q6o.A,PDB-ENSP_mappings:4ij3.A,PROSITE_profiles:PS51352,PANTHER:PTHR22897,PANTHER:PTHR22897:SF6 NA NA NA NA NA NA NA NA 0.000814 NA NA NA NA LOW 1 SNV 1 NA NA NA . CCT . 1254.6 0.0001082 NA 3.121e-05 NA NA NA 0.0002199 0.000176 NA 180175978 RGSL1 353299 . GRCh38 chr1 182540388 182540388 + Missense_Mutation SNP T T C rs1395907586 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2636T>C p.Ile879Thr p.I879T ENST00000294854 15/22 NA NA NA NA NA NA RGSL1,missense_variant,p.Ile879Thr,ENST00000294854,NM_001366934.1,NM_001137669.2;RGSL1,non_coding_transcript_exon_variant,,ENST00000456971,;RGSL1,missense_variant,p.Ile914Thr,ENST00000443996,;RGSL1,3_prime_UTR_variant,,ENST00000648414,;RGSL1,3_prime_UTR_variant,,ENST00000415960,;RGSL1,non_coding_transcript_exon_variant,,ENST00000436031,; C ENSG00000121446 ENST00000294854 Transcript missense_variant 2656/3735 2636/3231 879/1076 I/T aTc/aCc rs1395907586 1 NA 1 RGSL1 HGNC HGNC:18636 protein_coding YES CCDS58049.1 ENSP00000457748 A5PLK6.91 UPI000156571A NM_001366934.1,NM_001137669.2 deleterious(0) benign(0.122) 15/22 PANTHER:PTHR47079 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . ATC . 745.6 NA NA NA NA NA NA NA NA NA 182540388 RNASEL 6041 . GRCh38 chr1 182586266 182586266 + Missense_Mutation SNP C C T rs779087511 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.541G>A p.Val181Ile p.V181I ENST00000367559 2/7 NA NA NA NA NA NA RNASEL,missense_variant,p.Val181Ile,ENST00000367559,NM_021133.4;RNASEL,missense_variant,p.Val181Ile,ENST00000539397,; T ENSG00000135828 ENST00000367559 Transcript missense_variant 795/4238 541/2226 181/741 V/I Gta/Ata rs779087511 1 NA -1 RNASEL HGNC HGNC:10050 protein_coding YES CCDS1347.1 ENSP00000356530 Q05823.192 UPI000005339F NM_021133.4 tolerated(0.45) benign(0.007) 2/7 Gene3D:1.25.40.20,PDB-ENSP_mappings:1wdy.A,PDB-ENSP_mappings:4g8k.A,PDB-ENSP_mappings:4g8k.B,PDB-ENSP_mappings:4g8l.A,PDB-ENSP_mappings:4g8l.B,PDB-ENSP_mappings:4g8l.C,PDB-ENSP_mappings:4g8l.D,PDB-ENSP_mappings:4oau.C,PDB-ENSP_mappings:4oav.B,PDB-ENSP_mappings:4oav.D,Pfam:PF13857,Prints:PR01415,PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,PANTHER:PTHR24141,SMART:SM00248,Superfamily:SSF48403 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . ACG . 3256.6 1.194e-05 NA NA NA NA NA 2.641e-05 NA NA 182586266 RO60 6738 . GRCh38 chr1 193084604 193084607 + Frame_Shift_Del DEL TTGT TTGT - novel NA HCI-EC-23 NORMAL TTGT TTGT NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1494_1497del p.Cys499GlufsTer2 p.C499Efs*2 ENST00000400968 9/9 NA NA NA NA NA NA RO60,frameshift_variant,p.Cys499GlufsTer2,ENST00000400968,NM_001173524.2;RO60,frameshift_variant,p.Cys224GlufsTer2,ENST00000432079,NM_001331020.2;RO60,frameshift_variant,p.Cys499GlufsTer2,ENST00000367446,NM_004600.5;RO60,frameshift_variant,p.Cys499GlufsTer2,ENST00000367443,NM_001173525.1;RO60,frameshift_variant,p.Cys499GlufsTer2,ENST00000367445,NM_001042370.2;RO60,frameshift_variant,p.Cys499GlufsTer2,ENST00000367444,NM_001042369.2;RO60,frameshift_variant,p.Cys499GlufsTer2,ENST00000367441,;RO60,non_coding_transcript_exon_variant,,ENST00000460715,; - ENSG00000116747 ENST00000400968 Transcript frameshift_variant 1676-1679/8291 1490-1493/1617 497-498/538 IV/X aTTGTt/at 1 NA 1 RO60 HGNC HGNC:11313 protein_coding YES CCDS1379.1 ENSP00000383752 P10155.195 A0A024R983.47 UPI0000072E7F NM_001173524.2 9/9 Gene3D:3.40.50.410,PANTHER:PTHR14202,PANTHER:PTHR14202:SF0,Superfamily:SSF53300 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 4 NA NA . GATTGTT . 4638.6 NA NA NA NA NA NA NA NA NA 193084603 PTPRC 5788 . GRCh38 chr1 198735169 198735169 + Missense_Mutation SNP C C T rs200672643 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2320C>T p.Arg774Trp p.R774W ENST00000442510 23/33 NA NA NA NA NA NA PTPRC,missense_variant,p.Arg774Trp,ENST00000442510,NM_002838.5;PTPRC,missense_variant,p.Arg613Trp,ENST00000348564,NM_080921.3;PTPRC,missense_variant,p.Arg708Trp,ENST00000367367,;PTPRC,downstream_gene_variant,,ENST00000530727,;PTPRC,missense_variant,p.Arg726Trp,ENST00000529828,; T ENSG00000081237 ENST00000442510 Transcript missense_variant 2461/5357 2320/3921 774/1306 R/W Cgg/Tgg rs200672643 1 NA 1 PTPRC HGNC HGNC:9666 protein_coding YES CCDS1397.2 ENSP00000411355 P08575.228 UPI000046FDB4 NM_002838.5 deleterious(0.01) probably_damaging(0.967) 23/33 PDB-ENSP_mappings:1ygr.A,PDB-ENSP_mappings:1ygr.B,PDB-ENSP_mappings:1ygu.A,PDB-ENSP_mappings:1ygu.B,Gene3D:3.90.190.10,Pfam:PF00102,PIRSF:PIRSF002004,PROSITE_profiles:PS50055,PANTHER:PTHR19134,PANTHER:PTHR19134:SF284,SMART:SM00194,Superfamily:SSF52799,CDD:cd14557 NA NA NA NA NA NA NA NA 0.0001163 uncertain_significance NA NA NA NA MODERATE 1 SNV 1 NA 1 NA 1 . TCG . 284.6 2.008e-05 NA 5.838e-05 NA 5.536e-05 NA 1.78e-05 NA NA 198735169 ZNF281 23528 . GRCh38 chr1 200409431 200409431 + Frame_Shift_Del DEL G G - rs751889036 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.275del p.Pro92LeufsTer7 p.P92Lfs*7 ENST00000294740 2/2 NA NA NA NA NA NA ZNF281,frameshift_variant,p.Pro92LeufsTer7,ENST00000294740,;ZNF281,frameshift_variant,p.Pro92LeufsTer7,ENST00000367353,NM_012482.5,NM_001281293.2;ZNF281,frameshift_variant,p.Pro56LeufsTer7,ENST00000367352,NM_001281294.2;AC104461.1,intron_variant,,ENST00000637430,;AC104461.1,upstream_gene_variant,,ENST00000634596,;AC104461.1,upstream_gene_variant,,ENST00000635220,;AC104461.1,upstream_gene_variant,,ENST00000647823,;AC104461.1,upstream_gene_variant,,ENST00000654000,;AC104461.1,upstream_gene_variant,,ENST00000659976,;AC104461.1,upstream_gene_variant,,ENST00000660351,;,regulatory_region_variant,,ENSR00000017949,; - ENSG00000162702 ENST00000294740 Transcript frameshift_variant 400/4891 275/2688 92/895 P/X cCt/ct rs751889036 1 NA -1 ZNF281 HGNC HGNC:13075 protein_coding YES CCDS1402.1 ENSP00000294740 Q9Y2X9.180 UPI000013C345 2/2 PANTHER:PTHR24404,PANTHER:PTHR24404:SF56,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA 0.006657 0.0116 NA NA NA NA HIGH 1 deletion 1 NA NA NA . GAGG . 1615.6 6.241e-05 NA 5.393e-05 NA NA 8.409e-05 9.639e-05 0.0003171 NA 200409430 CAMSAP2 23271 . GRCh38 chr1 200850089 200850090 + Frame_Shift_Ins INS - - A novel NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3359dup p.Asn1120LysfsTer3 p.N1120Kfs*3 ENST00000236925 12/18 NA NA NA NA NA NA CAMSAP2,frameshift_variant,p.Asn1109LysfsTer3,ENST00000358823,NM_203459.3;CAMSAP2,frameshift_variant,p.Asn1120LysfsTer3,ENST00000236925,NM_001297707.2;CAMSAP2,frameshift_variant,p.Asn1093LysfsTer3,ENST00000413307,NM_001297708.2;CAMSAP2,intron_variant,,ENST00000447701,; A ENSG00000118200 ENST00000236925 Transcript frameshift_variant 3402-3403/7161 3353-3354/4470 1118/1489 P/PX cca/ccAa 1 NA 1 CAMSAP2 HGNC HGNC:29188 protein_coding YES CCDS72998.1 ENSP00000236925 Q08AD1.125 UPI0000160246 NM_001297707.2 12/18 PANTHER:PTHR21595,PANTHER:PTHR21595:SF1,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 insertion 1 6 NA NA . CCA . 2392.64 NA NA NA NA NA NA NA NA NA 200850089 IPO9 55705 . GRCh38 chr1 201872937 201872937 + Missense_Mutation SNP C C T rs781370525 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2686C>T p.Arg896Cys p.R896C ENST00000361565 20/24 NA NA NA NA NA NA IPO9,missense_variant,p.Arg896Cys,ENST00000361565,NM_018085.5;IPO9,upstream_gene_variant,,ENST00000456707,; T ENSG00000198700 ENST00000361565 Transcript missense_variant 2739/11416 2686/3126 896/1041 R/C Cgc/Tgc rs781370525,COSV64233918 1 NA 1 IPO9 HGNC HGNC:19425 protein_coding YES CCDS1415.1 ENSP00000354742 Q96P70.169 UPI000007304B NM_018085.5 deleterious(0.01) benign(0.068) 20/24 PDB-ENSP_mappings:6n1z.A,PDB-ENSP_mappings:6n1z.D,PANTHER:PTHR10997,PANTHER:PTHR10997:SF9,Superfamily:SSF48371 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 1 NA 0,1 NA NA . CCG . 2278.6 1.598e-05 NA 5.831e-05 NA 0.000109 NA NA NA NA 201872937 PPFIA4 8497 . GRCh38 chr1 203075651 203075651 + Silent SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3405C>T p.Gly1135= p.G1135= ENST00000367240 28/29 NA NA NA NA NA NA PPFIA4,synonymous_variant,p.Gly1135=,ENST00000367240,NM_001304331.2,NM_001304332.2;PPFIA4,synonymous_variant,p.Gly641=,ENST00000295706,;PPFIA4,synonymous_variant,p.Gly1134=,ENST00000447715,;PPFIA4,synonymous_variant,p.Gly650=,ENST00000272198,;PPFIA4,synonymous_variant,p.Gly641=,ENST00000599966,;PPFIA4,synonymous_variant,p.Gly902=,ENST00000600426,;PPFIA4,upstream_gene_variant,,ENST00000594572,;PPFIA4,non_coding_transcript_exon_variant,,ENST00000486360,;,regulatory_region_variant,,ENSR00000383328,; T ENSG00000143847 ENST00000367240 Transcript synonymous_variant 3932/6434 3405/3561 1135/1186 G ggC/ggT 1 NA 1 PPFIA4 HGNC HGNC:9248 protein_coding YES ENSP00000356209 B1APN9.94 UPI0001881B39 NM_001304331.2,NM_001304332.2 28/29 PANTHER:PTHR12587,PANTHER:PTHR12587:SF5 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . GCG . 2600.6 NA NA NA NA NA NA NA NA NA 203075651 MYBPH 4608 . GRCh38 chr1 203172033 203172033 + Frame_Shift_Del DEL G G - novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.516del p.Lys173ArgfsTer48 p.K173Rfs*48 ENST00000255416 4/11 NA NA NA NA NA NA MYBPH,frameshift_variant,p.Lys173ArgfsTer48,ENST00000255416,NM_004997.3;MYBPH,frameshift_variant,p.Lys173ArgfsTer48,ENST00000621380,;ADORA1,downstream_gene_variant,,ENST00000309502,;ADORA1,downstream_gene_variant,,ENST00000337894,NM_000674.3;ADORA1,downstream_gene_variant,,ENST00000367236,NM_001048230.2;,regulatory_region_variant,,ENSR00000256240,; - ENSG00000133055 ENST00000255416 Transcript frameshift_variant 587/1818 516/1434 172/477 P/X ccC/cc 1 NA -1 MYBPH HGNC HGNC:7552 protein_coding YES CCDS30975.1 ENSP00000255416 Q13203.164 UPI000000DA7B NM_004997.3 4/11 Gene3D:2.60.40.10,PROSITE_profiles:PS50835,PANTHER:PTHR13817,PANTHER:PTHR13817:SF49,Superfamily:SSF49265 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 NA NA NA . TTGG . 3147.6 NA NA NA NA NA NA NA NA NA 203172032 CHI3L1 1116 . GRCh38 chr1 203183652 203183652 + Missense_Mutation SNP T T C NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.454A>G p.Thr152Ala p.T152A ENST00000255409 5/10 NA NA NA NA NA NA CHI3L1,missense_variant,p.Thr152Ala,ENST00000255409,NM_001276.4;CHI3L1,upstream_gene_variant,,ENST00000404436,;CHI3L1,upstream_gene_variant,,ENST00000472064,;CHI3L1,upstream_gene_variant,,ENST00000473185,;CHI3L1,upstream_gene_variant,,ENST00000478742,; C ENSG00000133048 ENST00000255409 Transcript missense_variant 535/1747 454/1152 152/383 T/A Acc/Gcc COSV55138346 1 NA -1 CHI3L1 HGNC HGNC:1932 protein_coding YES CCDS1435.1 ENSP00000255409 P36222.187 A0A024R969.40 UPI0000072E4F NM_001276.4 tolerated(0.59) benign(0.001) 5/10 PDB-ENSP_mappings:1hjv.A,PDB-ENSP_mappings:1hjv.B,PDB-ENSP_mappings:1hjv.C,PDB-ENSP_mappings:1hjv.D,PDB-ENSP_mappings:1hjw.A,PDB-ENSP_mappings:1hjw.B,PDB-ENSP_mappings:1hjx.A,PDB-ENSP_mappings:1hjx.B,PDB-ENSP_mappings:1hjx.C,PDB-ENSP_mappings:1hjx.D,PDB-ENSP_mappings:1nwr.A,PDB-ENSP_mappings:1nwr.B,PDB-ENSP_mappings:1nwr.C,PDB-ENSP_mappings:1nwr.D,PDB-ENSP_mappings:1nws.A,PDB-ENSP_mappings:1nws.B,PDB-ENSP_mappings:1nws.C,PDB-ENSP_mappings:1nws.D,PDB-ENSP_mappings:1nwt.A,PDB-ENSP_mappings:1nwt.B,PDB-ENSP_mappings:1nwt.C,PDB-ENSP_mappings:1nwt.D,PDB-ENSP_mappings:1nwu.A,PDB-ENSP_mappings:1nwu.B,PDB-ENSP_mappings:1nwu.C,PDB-ENSP_mappings:1nwu.D,Gene3D:3.20.20.80,Pfam:PF00704,PANTHER:PTHR11177,PANTHER:PTHR11177:SF202,SMART:SM00636,Superfamily:SSF51445,CDD:cd02872 NA NA NA NA NA NA NA NA NA 1 NA NA NA NA MODERATE 1 SNV 1 NA 1 NA 1 . GTG . 547.6 NA NA NA NA NA NA NA NA NA 203183652 CHIT1 1118 . GRCh38 chr1 203217822 203217823 + Nonsense_Mutation INS - - AGACCATGGCCCCGCCCAGTCCCT rs3831317 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1049_1072dup p.Val357_Trp358insTer p.V357_W358ins* ENST00000367229 10/11 NA NA NA NA NA NA CHIT1,stop_gained,p.Val357_Trp358insTer,ENST00000367229,NM_003465.3;CHIT1,stop_gained,p.Val338_Trp339insTer,ENST00000255427,NM_001256125.2;CHIT1,non_coding_transcript_exon_variant,,ENST00000484834,;CHIT1,non_coding_transcript_exon_variant,,ENST00000479483,;CHIT1,downstream_gene_variant,,ENST00000506427,;CHIT1,stop_gained,p.Val357_Trp358insTer,ENST00000491855,;CHIT1,3_prime_UTR_variant,,ENST00000503786,; AGACCATGGCCCCGCCCAGTCCCT ENSG00000133063 ENST00000367229 Transcript stop_gained 1109-1110/2248 1072-1073/1401 358/466 W/*GLGGAMVW tgg/tAGGGACTGGGCGGGGCCATGGTCTgg rs3831317 1 NA -1 CHIT1 HGNC HGNC:1936 protein_coding YES CCDS1436.1 ENSP00000356198 Q13231.191 UPI00000399C1 NM_003465.3 10/11 PDB-ENSP_mappings:1guv.A,PDB-ENSP_mappings:1hki.A,PDB-ENSP_mappings:1hkj.A,PDB-ENSP_mappings:1hkk.A,PDB-ENSP_mappings:1hkm.A,PDB-ENSP_mappings:1lg1.A,PDB-ENSP_mappings:1lg2.A,PDB-ENSP_mappings:1lq0.A,PDB-ENSP_mappings:1waw.A,PDB-ENSP_mappings:1wb0.A,Gene3D:3.20.20.80,PDB-ENSP_mappings:4wjx.A,PDB-ENSP_mappings:4wk9.A,PDB-ENSP_mappings:4wka.A,PDB-ENSP_mappings:4wkf.A,PDB-ENSP_mappings:4wkh.A,PDB-ENSP_mappings:5hbf.A,PDB-ENSP_mappings:5hbf.B,PDB-ENSP_mappings:5nr8.A,PDB-ENSP_mappings:5nra.A,PDB-ENSP_mappings:5nrf.A,PDB-ENSP_mappings:6jjr.A,PDB-ENSP_mappings:6jk6.A,Pfam:PF00704,PANTHER:PTHR11177,PANTHER:PTHR11177:SF248,SMART:SM00636,Superfamily:SSF51445,CDD:cd02872 NA 0.0242 0.2983 NA 0.5704 0.1839 0.4591 NA NA benign,likely_benign 26931462,20226308,20538957,26332238,26372680,25967229,19644363,18845328,31892365 NA NA NA NA HIGH 1 insertion 1 NA 1 NA 1 . CCA . 1924.64 NA NA NA NA NA NA NA NA NA 203217822 KISS1 3814 . GRCh38 chr1 204190765 204190765 + Missense_Mutation SNP G G T novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.136C>A p.Pro46Thr p.P46T ENST00000625357 2/3 NA NA NA NA NA NA KISS1,missense_variant,p.Pro46Thr,ENST00000367194,NM_002256.4;KISS1,missense_variant,p.Pro46Thr,ENST00000625357,;REN,upstream_gene_variant,,ENST00000638118,;,regulatory_region_variant,,ENSR00000383667,; T ENSG00000170498 ENST00000625357 Transcript missense_variant 136/435 136/435 46/144 P/T Ccc/Acc 1 NA -1 KISS1 HGNC HGNC:6341 protein_coding YES ENSP00000485957 A0A0D9SES6.27 UPI00004562DF tolerated(0.16) possibly_damaging(0.463) 2/3 PANTHER:PTHR16955,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA 1 . GGG . 961.6 NA NA NA NA NA NA NA NA NA 204190765 PLEKHA6 22874 . GRCh38 chr1 204259283 204259283 + Frame_Shift_Del DEL C C - novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.982del p.Val328TyrfsTer172 p.V328Yfs*172 ENST00000637508 8/27 NA NA NA NA NA NA PLEKHA6,frameshift_variant,p.Val328TyrfsTer172,ENST00000272203,NM_014935.5;PLEKHA6,frameshift_variant,p.Val328TyrfsTer172,ENST00000637508,;PLEKHA6,frameshift_variant,p.Val348TyrfsTer172,ENST00000414478,;PLEKHA6,frameshift_variant,p.Val370TyrfsTer?,ENST00000672625,;PLEKHA6,downstream_gene_variant,,ENST00000485632,; - ENSG00000143850 ENST00000637508 Transcript frameshift_variant 1135/5704 982/3519 328/1172 V/X Gta/ta 1 NA -1 PLEKHA6 HGNC HGNC:17053 protein_coding YES ENSP00000490182 A0A1B0GUN5.22 UPI0007E52BE1 8/27 PANTHER:PTHR12752,PANTHER:PTHR12752:SF5 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 5 NA NA NA . TACC . 3116.6 NA NA NA NA NA NA NA NA NA 204259282 PIK3C2B 5287 . GRCh38 chr1 204433380 204433380 + Missense_Mutation SNP T T C novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3889A>G p.Lys1297Glu p.K1297E ENST00000367187 27/34 NA NA NA NA NA NA PIK3C2B,missense_variant,p.Lys1297Glu,ENST00000367187,NM_001377334.1,NM_002646.4;PIK3C2B,missense_variant,p.Lys1269Glu,ENST00000424712,NM_001377335.1;AL606489.1,intron_variant,,ENST00000443515,;PIK3C2B,upstream_gene_variant,,ENST00000462752,; C ENSG00000133056 ENST00000367187 Transcript missense_variant 4446/7686 3889/4905 1297/1634 K/E Aag/Gag 1 NA -1 PIK3C2B HGNC HGNC:8972 protein_coding YES CCDS1446.1 ENSP00000356155 O00750.204 A2RUF7.134 UPI00002056D1 NM_001377334.1,NM_002646.4 deleterious(0) probably_damaging(0.985) 27/34 Gene3D:1.10.1070.11,PROSITE_profiles:PS50290,PANTHER:PTHR10048,PANTHER:PTHR10048:SF30,SMART:SM00146,Superfamily:SSF56112,CDD:cd00895 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . TTG . 3805.6 NA NA NA NA NA NA NA NA NA 204433380 NFASC 23114 . GRCh38 chr1 204954905 204954905 + Frame_Shift_Del DEL C C - novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.494del p.Pro165ArgfsTer12 p.P165Rfs*12 ENST00000339876 7/30 NA NA NA NA NA NA NFASC,frameshift_variant,p.Pro165ArgfsTer12,ENST00000339876,NM_001378329.1,NM_001005388.3;NFASC,frameshift_variant,p.Pro165ArgfsTer12,ENST00000401399,;NFASC,frameshift_variant,p.Pro159ArgfsTer12,ENST00000539706,NM_001160332.2;NFASC,frameshift_variant,p.Pro159ArgfsTer12,ENST00000360049,NM_015090.4,NM_001365986.1;NFASC,frameshift_variant,p.Pro159ArgfsTer12,ENST00000404076,;NFASC,frameshift_variant,p.Pro159ArgfsTer12,ENST00000404907,;NFASC,frameshift_variant,p.Pro135ArgfsTer12,ENST00000430393,NM_001160331.1;NFASC,frameshift_variant,p.Pro135ArgfsTer12,ENST00000367173,;NFASC,frameshift_variant,p.Pro159ArgfsTer12,ENST00000513543,;NFASC,frameshift_variant,p.Pro165ArgfsTer12,ENST00000403080,NM_001005389.2,NM_001378330.1,NM_001160333.2,NM_001378331.1;NFASC,downstream_gene_variant,,ENST00000505079,;NFASC,non_coding_transcript_exon_variant,,ENST00000404977,;NFASC,upstream_gene_variant,,ENST00000504149,;NFASC,frameshift_variant,p.Pro165ArgfsTer12,ENST00000504476,;NFASC,non_coding_transcript_exon_variant,,ENST00000514644,;NFASC,upstream_gene_variant,,ENST00000512826,; - ENSG00000163531 ENST00000339876 Transcript frameshift_variant 817/10333 489/3723 163/1240 N/X aaC/aa 1 NA 1 NFASC HGNC HGNC:29866 protein_coding YES CCDS53460.1 ENSP00000344786 O94856.181 UPI0000237208 NM_001378329.1,NM_001005388.3 7/30 Gene3D:2.60.40.10,Pfam:PF00047,PROSITE_profiles:PS50835,PANTHER:PTHR44170,PANTHER:PTHR44170:SF12,SMART:SM00408,SMART:SM00409,Superfamily:SSF48726 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 5 5 NA 1 . AACC . 2331.6 NA NA NA NA NA NA NA NA NA 204954904 RBBP5 5929 . GRCh38 chr1 205105087 205105087 + Silent SNP A A G novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.300T>C p.Cys100= p.C100= ENST00000264515 4/14 NA NA NA NA NA NA RBBP5,synonymous_variant,p.Cys100=,ENST00000264515,NM_001193273.2,NM_005057.4;RBBP5,synonymous_variant,p.Cys100=,ENST00000367164,NM_001193272.2;RBBP5,non_coding_transcript_exon_variant,,ENST00000484379,; G ENSG00000117222 ENST00000264515 Transcript synonymous_variant 405/4367 300/1617 100/538 C tgT/tgC 1 NA -1 RBBP5 HGNC HGNC:9888 protein_coding YES CCDS30983.1 ENSP00000264515 Q15291.187 A0A024R9B5.43 UPI00001A9CA5 NM_001193273.2,NM_005057.4 4/14 Gene3D:2.130.10.10,PDB-ENSP_mappings:6kiu.N,PDB-ENSP_mappings:6kiv.N,PDB-ENSP_mappings:6kiw.N,PDB-ENSP_mappings:6kix.N,PDB-ENSP_mappings:6kiz.N,PDB-ENSP_mappings:6km7.A,PDB-ENSP_mappings:6km7.B,PDB-ENSP_mappings:6pwv.A,PDB-ENSP_mappings:6pww.A,PDB-ENSP_mappings:6pwx.A,PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,PANTHER:PTHR44040,Superfamily:SSF117289 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . CAC . 117.6 NA NA NA NA NA NA NA NA NA 205105087 RBBP5 5929 . GRCh38 chr1 205105093 205105093 + Silent SNP G G T novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.294C>A p.Gly98= p.G98= ENST00000264515 4/14 NA NA NA NA NA NA RBBP5,synonymous_variant,p.Gly98=,ENST00000264515,NM_001193273.2,NM_005057.4;RBBP5,synonymous_variant,p.Gly98=,ENST00000367164,NM_001193272.2;RBBP5,non_coding_transcript_exon_variant,,ENST00000484379,; T ENSG00000117222 ENST00000264515 Transcript synonymous_variant 399/4367 294/1617 98/538 G ggC/ggA 1 NA -1 RBBP5 HGNC HGNC:9888 protein_coding YES CCDS30983.1 ENSP00000264515 Q15291.187 A0A024R9B5.43 UPI00001A9CA5 NM_001193273.2,NM_005057.4 4/14 Gene3D:2.130.10.10,PDB-ENSP_mappings:6kiu.N,PDB-ENSP_mappings:6kiv.N,PDB-ENSP_mappings:6kiw.N,PDB-ENSP_mappings:6kix.N,PDB-ENSP_mappings:6kiz.N,PDB-ENSP_mappings:6km7.A,PDB-ENSP_mappings:6km7.B,PDB-ENSP_mappings:6pwv.A,PDB-ENSP_mappings:6pww.A,PDB-ENSP_mappings:6pwx.A,PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,PANTHER:PTHR44040,Superfamily:SSF117289 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . CGC . 114.6 NA NA NA NA NA NA NA NA NA 205105093 KLHDC8A 55220 . GRCh38 chr1 205338555 205338555 + Missense_Mutation SNP G G A rs376907601 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.799C>T p.Arg267Trp p.R267W ENST00000367156 8/9 NA NA NA NA NA NA KLHDC8A,missense_variant,p.Arg267Trp,ENST00000367156,NM_001271863.1;KLHDC8A,missense_variant,p.Arg267Trp,ENST00000367155,NM_018203.3;KLHDC8A,missense_variant,p.Arg267Trp,ENST00000539253,NM_001271864.1,NM_001271865.1;KLHDC8A,missense_variant,p.Arg133Trp,ENST00000460687,;KLHDC8A,missense_variant,p.Arg133Trp,ENST00000606181,;KLHDC8A,downstream_gene_variant,,ENST00000491471,;KLHDC8A,downstream_gene_variant,,ENST00000606887,;KLHDC8A,downstream_gene_variant,,ENST00000607173,;KLHDC8A,downstream_gene_variant,,ENST00000607826,; A ENSG00000162873 ENST00000367156 Transcript missense_variant 1616/3177 799/1053 267/350 R/W Cgg/Tgg rs376907601 1 NA -1 KLHDC8A HGNC HGNC:25573 protein_coding YES CCDS30985.1 ENSP00000356124 Q8IYD2.127 A0A024R981.44 UPI00000728EF NM_001271863.1 deleterious(0) probably_damaging(0.972) 8/9 Gene3D:2.120.10.80,Pfam:PF01344,PANTHER:PTHR46260,PANTHER:PTHR46260:SF1,Superfamily:SSF50965 NA NA NA NA NA NA NA NA 0.0001163 NA NA NA NA MODERATE 1 SNV 2 NA NA NA . CGC . 2847.6 1.591e-05 NA NA NA 0.0001087 NA 1.758e-05 NA NA 205338555 RASSF5 83593 . GRCh38 chr1 206507876 206507876 + Missense_Mutation SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.274C>T p.Arg92Trp p.R92W ENST00000579436 1/6 NA NA NA NA NA NA RASSF5,missense_variant,p.Arg92Trp,ENST00000581503,;RASSF5,missense_variant,p.Arg92Trp,ENST00000579436,NM_182663.4;RASSF5,missense_variant,p.Arg92Trp,ENST00000580449,NM_182664.4;AC244034.2,downstream_gene_variant,,ENST00000562504,;,regulatory_region_variant,,ENSR00000018986,; T ENSG00000266094 ENST00000579436 Transcript missense_variant 346/3799 274/1257 92/418 R/W Cgg/Tgg 1 NA 1 RASSF5 HGNC HGNC:17609 protein_coding YES CCDS30998.1 ENSP00000462099 Q8WWW0.161 UPI0000072CF5 NM_182663.4 deleterious(0) probably_damaging(0.985) 1/6 PANTHER:PTHR22738,PANTHER:PTHR22738:SF9,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . GCG . 766.6 NA NA NA NA NA NA NA NA NA 206507876 SERTAD4 56256 . GRCh38 chr1 210241789 210241789 + Nonsense_Mutation SNP C C T rs1337545576 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.523C>T p.Arg175Ter p.R175* ENST00000367012 4/4 NA NA NA NA NA NA SERTAD4,stop_gained,p.Arg175Ter,ENST00000367012,NM_001354173.2,NM_019605.5,NM_001375428.1;SERTAD4,non_coding_transcript_exon_variant,,ENST00000490620,;SERTAD4,intron_variant,,ENST00000482421,;SERTAD4,intron_variant,,ENST00000483884,; T ENSG00000082497 ENST00000367012 Transcript stop_gained 756/5222 523/1071 175/356 R/* Cga/Tga rs1337545576 1 NA 1 SERTAD4 HGNC HGNC:25236 protein_coding YES CCDS1494.1 ENSP00000355979 Q9NUC0.119 UPI0000070BBE NM_001354173.2,NM_019605.5,NM_001375428.1 4/4 PANTHER:PTHR14272 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 SNV 1 NA NA NA . ACG . 4941.6 NA NA NA NA NA NA NA NA NA 210241789 PPP2R5A 5525 . GRCh38 chr1 212329169 212329169 + Silent SNP T T C novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.216T>C p.Cys72= p.C72= ENST00000261461 2/13 NA NA NA NA NA NA PPP2R5A,synonymous_variant,p.Cys72=,ENST00000261461,NM_006243.4;PPP2R5A,synonymous_variant,p.Cys15=,ENST00000537030,NM_001199756.2;AL360091.3,intron_variant,,ENST00000442146,;PPP2R5A,non_coding_transcript_exon_variant,,ENST00000498129,;PPP2R5A,non_coding_transcript_exon_variant,,ENST00000479259,; C ENSG00000066027 ENST00000261461 Transcript synonymous_variant 917/3245 216/1461 72/486 C tgT/tgC 1 NA 1 PPP2R5A HGNC HGNC:9309 protein_coding YES CCDS1503.1 ENSP00000261461 Q15172.187 UPI0000124E90 NM_006243.4 2/13 Gene3D:1.25.10.10,PDB-ENSP_mappings:6nts.B,Pfam:PF01603,PIRSF:PIRSF028043,PANTHER:PTHR10257,PANTHER:PTHR10257:SF6,Superfamily:SSF48371 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . GTC . 99.6 NA NA NA NA NA NA NA NA NA 212329169 PPP2R5A 5525 . GRCh38 chr1 212329176 212329176 + Silent SNP T T C novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.223T>C p.Leu75= p.L75= ENST00000261461 2/13 NA NA NA NA NA NA PPP2R5A,synonymous_variant,p.Leu75=,ENST00000261461,NM_006243.4;PPP2R5A,synonymous_variant,p.Leu18=,ENST00000537030,NM_001199756.2;AL360091.3,intron_variant,,ENST00000442146,;PPP2R5A,non_coding_transcript_exon_variant,,ENST00000498129,;PPP2R5A,non_coding_transcript_exon_variant,,ENST00000479259,; C ENSG00000066027 ENST00000261461 Transcript synonymous_variant 924/3245 223/1461 75/486 L Ttg/Ctg 1 NA 1 PPP2R5A HGNC HGNC:9309 protein_coding YES CCDS1503.1 ENSP00000261461 Q15172.187 UPI0000124E90 NM_006243.4 2/13 Gene3D:1.25.10.10,PDB-ENSP_mappings:6nts.B,Pfam:PF01603,PIRSF:PIRSF028043,PANTHER:PTHR10257,PANTHER:PTHR10257:SF6,Superfamily:SSF48371 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . GTT . 129.6 NA NA NA NA NA NA NA NA NA 212329176 PPP2R5A 5525 . GRCh38 chr1 212329178 212329178 + Silent SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.225G>A p.Leu75= p.L75= ENST00000261461 2/13 NA NA NA NA NA NA PPP2R5A,synonymous_variant,p.Leu75=,ENST00000261461,NM_006243.4;PPP2R5A,synonymous_variant,p.Leu18=,ENST00000537030,NM_001199756.2;AL360091.3,intron_variant,,ENST00000442146,;PPP2R5A,non_coding_transcript_exon_variant,,ENST00000498129,;PPP2R5A,non_coding_transcript_exon_variant,,ENST00000479259,; A ENSG00000066027 ENST00000261461 Transcript synonymous_variant 926/3245 225/1461 75/486 L ttG/ttA 1 NA 1 PPP2R5A HGNC HGNC:9309 protein_coding YES CCDS1503.1 ENSP00000261461 Q15172.187 UPI0000124E90 NM_006243.4 2/13 Gene3D:1.25.10.10,PDB-ENSP_mappings:6nts.B,Pfam:PF01603,PIRSF:PIRSF028043,PANTHER:PTHR10257,PANTHER:PTHR10257:SF6,Superfamily:SSF48371 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . TGC . 108.6 NA NA NA NA NA NA NA NA NA 212329178 PPP2R5A 5525 . GRCh38 chr1 212329181 212329181 + Silent SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.228G>A p.Gln76= p.Q76= ENST00000261461 2/13 NA NA NA NA NA NA PPP2R5A,synonymous_variant,p.Gln76=,ENST00000261461,NM_006243.4;PPP2R5A,synonymous_variant,p.Gln19=,ENST00000537030,NM_001199756.2;AL360091.3,intron_variant,,ENST00000442146,;PPP2R5A,non_coding_transcript_exon_variant,,ENST00000498129,;PPP2R5A,non_coding_transcript_exon_variant,,ENST00000479259,; A ENSG00000066027 ENST00000261461 Transcript synonymous_variant 929/3245 228/1461 76/486 Q caG/caA 1 NA 1 PPP2R5A HGNC HGNC:9309 protein_coding YES CCDS1503.1 ENSP00000261461 Q15172.187 UPI0000124E90 NM_006243.4 2/13 Gene3D:1.25.10.10,PDB-ENSP_mappings:6nts.B,Pfam:PF01603,PIRSF:PIRSF028043,PANTHER:PTHR10257,PANTHER:PTHR10257:SF6,Superfamily:SSF48371 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . AGC . 102.6 NA NA NA NA NA NA NA NA NA 212329181 PPP2R5A 5525 . GRCh38 chr1 212329187 212329187 + Silent SNP T T C novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.234T>C p.Cys78= p.C78= ENST00000261461 2/13 NA NA NA NA NA NA PPP2R5A,synonymous_variant,p.Cys78=,ENST00000261461,NM_006243.4;PPP2R5A,synonymous_variant,p.Cys21=,ENST00000537030,NM_001199756.2;AL360091.3,intron_variant,,ENST00000442146,;PPP2R5A,non_coding_transcript_exon_variant,,ENST00000498129,;PPP2R5A,non_coding_transcript_exon_variant,,ENST00000479259,; C ENSG00000066027 ENST00000261461 Transcript synonymous_variant 935/3245 234/1461 78/486 C tgT/tgC 1 NA 1 PPP2R5A HGNC HGNC:9309 protein_coding YES CCDS1503.1 ENSP00000261461 Q15172.187 UPI0000124E90 NM_006243.4 2/13 Gene3D:1.25.10.10,PDB-ENSP_mappings:6nts.B,Pfam:PF01603,PIRSF:PIRSF028043,PANTHER:PTHR10257,PANTHER:PTHR10257:SF6,Superfamily:SSF48371 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . GTT . 84.6 NA NA NA NA NA NA NA NA NA 212329187 PPP2R5A 5525 . GRCh38 chr1 212329191 212329191 + Missense_Mutation SNP A A G rs754844288 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.238A>G p.Ile80Val p.I80V ENST00000261461 2/13 NA NA NA NA NA NA PPP2R5A,missense_variant,p.Ile80Val,ENST00000261461,NM_006243.4;PPP2R5A,missense_variant,p.Ile23Val,ENST00000537030,NM_001199756.2;AL360091.3,intron_variant,,ENST00000442146,;PPP2R5A,non_coding_transcript_exon_variant,,ENST00000498129,;PPP2R5A,non_coding_transcript_exon_variant,,ENST00000479259,; G ENSG00000066027 ENST00000261461 Transcript missense_variant 939/3245 238/1461 80/486 I/V Ata/Gta rs754844288,COSV54816395 1 NA 1 PPP2R5A HGNC HGNC:9309 protein_coding YES CCDS1503.1 ENSP00000261461 Q15172.187 UPI0000124E90 NM_006243.4 tolerated(1) benign(0.001) 2/13 Gene3D:1.25.10.10,PDB-ENSP_mappings:6nts.B,Pfam:PF01603,PIRSF:PIRSF028043,PANTHER:PTHR10257,PANTHER:PTHR10257:SF6,Superfamily:SSF48371 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 1 NA 0,1 NA NA . TAT . 87.6 3.999e-06 NA NA NA NA 4.623e-05 NA NA NA 212329191 RPS6KC1 26750 . GRCh38 chr1 213077703 213077703 + Missense_Mutation SNP T T C novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.149T>C p.Val50Ala p.V50A ENST00000366960 3/15 NA NA NA NA NA NA RPS6KC1,missense_variant,p.Val50Ala,ENST00000366960,NM_001349646.1,NM_001349647.1,NM_012424.6;RPS6KC1,missense_variant,p.Val38Ala,ENST00000366959,NM_001136138.3;RPS6KC1,5_prime_UTR_variant,,ENST00000543470,NM_001287219.2;RPS6KC1,5_prime_UTR_variant,,ENST00000614059,NM_001349660.1,NM_001349654.1,NM_001287218.2,NM_001349659.1,NM_001349662.1,NM_001349661.1;RPS6KC1,5_prime_UTR_variant,,ENST00000615329,NM_001349669.1,NM_001349666.1,NM_001349664.1,NM_001349671.1,NM_001349668.1,NM_001287220.2,NM_001349670.1,NM_001349663.1,NM_001349667.1,NM_001349672.1,NM_001349665.1;RPS6KC1,intron_variant,,ENST00000543354,NM_001349651.1,NM_001349650.1,NM_001349649.1,NM_001349658.1,NM_001349648.1,NM_001349652.1,NM_001349653.1,NM_001349657.1,NM_001287221.2;RPS6KC1,non_coding_transcript_exon_variant,,ENST00000490299,; C ENSG00000136643 ENST00000366960 Transcript missense_variant 313/5505 149/3201 50/1066 V/A gTa/gCa 1 NA 1 RPS6KC1 HGNC HGNC:10439 protein_coding YES CCDS1513.1 ENSP00000355927 Q96S38.161 UPI0000071B8C NM_001349646.1,NM_001349647.1,NM_012424.6 tolerated(0.07) benign(0.429) 3/15 Gene3D:3.30.1520.10,Pfam:PF00787,PROSITE_profiles:PS50195,PANTHER:PTHR15508,PANTHER:PTHR15508:SF2,SMART:SM00312,Superfamily:SSF64268,CDD:cd07287 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . GTA . 948.6 NA NA NA NA NA NA NA NA NA 213077703 USH2A 7399 . GRCh38 chr1 215878926 215878926 + Frame_Shift_Del DEL C C - NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.8396del p.Gly2799ValfsTer31 p.G2799Vfs*31 ENST00000674083 42/73 NA NA NA NA NA NA USH2A,frameshift_variant,p.Gly2799ValfsTer31,ENST00000674083,;USH2A,frameshift_variant,p.Gly2799ValfsTer31,ENST00000307340,NM_206933.4; - ENSG00000042781 ENST00000674083 Transcript frameshift_variant 8835/19010 8396/15681 2799/5226 G/X gGt/gt COSV100237517 1 NA -1 USH2A HGNC HGNC:12601 protein_coding YES ENSP00000501296 UPI00006E226D 42/73 Gene3D:2.60.40.10,Pfam:PF00041,PROSITE_profiles:PS50853,PANTHER:PTHR10574,PANTHER:PTHR10574:SF274,SMART:SM00060,Superfamily:SSF49265,CDD:cd00063 NA NA NA NA NA NA NA NA NA 1 NA NA NA NA HIGH 1 deletion NA NA 1 NA 1 . TACC . 2781.6 NA NA NA NA NA NA NA NA NA 215878925 C1orf115 79762 . GRCh38 chr1 220690663 220690663 + Silent SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.261C>T p.Ser87= p.S87= ENST00000294889 1/2 NA NA NA NA NA NA C1orf115,synonymous_variant,p.Ser87=,ENST00000294889,NM_024709.5;,regulatory_region_variant,,ENSR00000020401,; T ENSG00000162817 ENST00000294889 Transcript synonymous_variant 301/2891 261/429 87/142 S agC/agT 1 NA 1 C1orf115 HGNC HGNC:25873 protein_coding YES CCDS1524.1 ENSP00000294889 Q9H7X2.110 UPI0000073CC0 NM_024709.5 1/2 Pfam:PF15828,PANTHER:PTHR14680 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . GCG . 393.6 NA NA NA NA NA NA NA NA NA 220690663 CAPN2 824 . GRCh38 chr1 223747134 223747134 + Frame_Shift_Del DEL A A - novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.702del p.Gly235AlafsTer25 p.G235Afs*25 ENST00000295006 5/21 NA NA NA NA NA NA CAPN2,frameshift_variant,p.Gly235AlafsTer25,ENST00000295006,NM_001748.5;CAPN2,frameshift_variant,p.Gly157AlafsTer25,ENST00000433674,NM_001146068.1;CAPN2,downstream_gene_variant,,ENST00000434648,;CAPN2,non_coding_transcript_exon_variant,,ENST00000483579,;CAPN2,upstream_gene_variant,,ENST00000480581,; - ENSG00000162909 ENST00000295006 Transcript frameshift_variant 800/3366 698/2103 233/700 Q/X cAa/ca 1 NA 1 CAPN2 HGNC HGNC:1479 protein_coding YES CCDS31035.1 ENSP00000295006 P17655.231 UPI000059D0B9 NM_001748.5 5/21 PDB-ENSP_mappings:1kfu.L,PDB-ENSP_mappings:1kfx.L,PDB-ENSP_mappings:2nqa.A,Gene3D:3.90.70.10,Pfam:PF00648,PROSITE_profiles:PS50203,PANTHER:PTHR10183,PANTHER:PTHR10183:SF268,SMART:SM00230,Superfamily:SSF54001,CDD:cd00044 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 4 NA NA . GCAA . 3382.6 NA NA NA NA NA NA NA NA NA 223747133 TP53BP2 7159 . GRCh38 chr1 223802287 223802287 + Missense_Mutation SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1054G>A p.Ala352Thr p.A352T ENST00000343537 9/18 NA NA NA NA NA NA TP53BP2,missense_variant,p.Ala223Thr,ENST00000391878,NM_005426.2;TP53BP2,missense_variant,p.Ala352Thr,ENST00000343537,NM_001031685.3;TP53BP2,intron_variant,,ENST00000494100,;TP53BP2,non_coding_transcript_exon_variant,,ENST00000498843,;TP53BP2,non_coding_transcript_exon_variant,,ENST00000481128,;TP53BP2,non_coding_transcript_exon_variant,,ENST00000489310,;TP53BP2,downstream_gene_variant,,ENST00000473135,;TP53BP2,downstream_gene_variant,,ENST00000496282,;TP53BP2,non_coding_transcript_exon_variant,,ENST00000490896,;TP53BP2,downstream_gene_variant,,ENST00000464172,;TP53BP2,upstream_gene_variant,,ENST00000464656,;TP53BP2,upstream_gene_variant,,ENST00000483398,; T ENSG00000143514 ENST00000343537 Transcript missense_variant 1321/4632 1054/3405 352/1134 A/T Gca/Aca 1 NA -1 TP53BP2 HGNC HGNC:12000 protein_coding YES CCDS44319.1 ENSP00000341957 Q13625.206 UPI0000D4B5F2 NM_001031685.3 deleterious(0) probably_damaging(0.996) 9/18 PANTHER:PTHR24131,PANTHER:PTHR24131:SF8 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . GCA . 4029.6 NA NA NA NA NA NA NA NA NA 223802287 ITPKB 3707 . GRCh38 chr1 226634731 226634731 + Silent SNP C C T rs758191243 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2781G>A p.Ser927= p.S927= ENST00000429204 8/8 NA NA NA NA NA NA ITPKB,synonymous_variant,p.Ser927=,ENST00000429204,NM_002221.3;ITPKB,synonymous_variant,p.Ser927=,ENST00000272117,;,regulatory_region_variant,,ENSR00000257037,; T ENSG00000143772 ENST00000429204 Transcript synonymous_variant 3121/6162 2781/2841 927/946 S tcG/tcA rs758191243,COSV99683478 1 NA -1 ITPKB HGNC HGNC:6179 protein_coding YES CCDS1555.1 ENSP00000411152 P27987.180 UPI000013D92B NM_002221.3 8/8 Gene3D:1.10.510.50,Pfam:PF03770,PANTHER:PTHR12400,PANTHER:PTHR12400:SF4,Superfamily:SSF56104 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA LOW 1 SNV 5 NA 0,1 NA NA . CCG . 3302.6 2.791e-05 NA 2.897e-05 NA NA 4.642e-05 4.41e-05 NA NA 226634731 OBSCN 84033 . GRCh38 chr1 228288689 228288689 + Silent SNP G G A rs568828036 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.11427G>A p.Thr3809= p.T3809= ENST00000570156 43/116 NA NA NA NA NA NA OBSCN,synonymous_variant,p.Thr3809=,ENST00000570156,NM_001271223.2;OBSCN,synonymous_variant,p.Thr3380=,ENST00000662438,;OBSCN,synonymous_variant,p.Thr3380=,ENST00000422127,NM_001098623.2;OBSCN,synonymous_variant,p.Thr3380=,ENST00000636476,;OBSCN,synonymous_variant,p.Thr3380=,ENST00000284548,NM_052843.4;OBSCN,downstream_gene_variant,,ENST00000366704,;OBSCN,downstream_gene_variant,,ENST00000366706,;OBSCN,upstream_gene_variant,,ENST00000483539,;OBSCN,downstream_gene_variant,,ENST00000668943,; A ENSG00000154358 ENST00000570156 Transcript synonymous_variant 11587/27013 11427/26772 3809/8923 T acG/acA rs568828036 1 NA 1 OBSCN HGNC HGNC:15719 protein_coding YES CCDS59204.1 ENSP00000455507 A6NGQ3.117 UPI00027FCDB5 NM_001271223.2 43/116 Gene3D:2.60.40.10,Pfam:PF07679,PROSITE_profiles:PS50835,PANTHER:PTHR44888,PANTHER:PTHR44888:SF2,SMART:SM00408,SMART:SM00409,Superfamily:SSF48726,CDD:cd00096 2e-04 NA NA NA NA 0.001 NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . CGC . 8539.6 1.605e-05 NA NA NA NA NA 1.77e-05 0.0001652 3.268e-05 228288689 OBSCN 84033 . GRCh38 chr1 228315974 228315974 + Silent SNP G G A rs1309581017 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.16011G>A p.Val5337= p.V5337= ENST00000570156 61/116 NA NA NA NA NA NA OBSCN,synonymous_variant,p.Val5337=,ENST00000570156,NM_001271223.2;OBSCN,synonymous_variant,p.Val4895=,ENST00000662438,;OBSCN,synonymous_variant,p.Val4380=,ENST00000422127,NM_001098623.2;OBSCN,synonymous_variant,p.Val4380=,ENST00000636476,;OBSCN,synonymous_variant,p.Val4380=,ENST00000284548,NM_052843.4;OBSCN,synonymous_variant,p.Val248=,ENST00000660857,;,regulatory_region_variant,,ENSR00000938294,;,TF_binding_site_variant,,ENSM00055967450,;,TF_binding_site_variant,,ENSM00056256780,;,TF_binding_site_variant,,ENSM00524721500,; A ENSG00000154358 ENST00000570156 Transcript synonymous_variant 16171/27013 16011/26772 5337/8923 V gtG/gtA rs1309581017 1 NA 1 OBSCN HGNC HGNC:15719 protein_coding YES CCDS59204.1 ENSP00000455507 A6NGQ3.117 UPI00027FCDB5 NM_001271223.2 61/116 Gene3D:2.60.40.10,PANTHER:PTHR44888,PANTHER:PTHR44888:SF2,SMART:SM00409,Superfamily:SSF48726 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . TGC . 6022.6 4.422e-06 NA NA NA 5.969e-05 NA NA NA NA 228315974 TRIM11 81559 . GRCh38 chr1 228395175 228395175 + Frame_Shift_Del DEL C C - novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.937del p.Asp313ThrfsTer51 p.D313Tfs*51 ENST00000284551 6/6 NA NA NA NA NA NA TRIM11,frameshift_variant,p.Asp188ThrfsTer51,ENST00000493030,;TRIM11,frameshift_variant,p.Asp313ThrfsTer51,ENST00000284551,NM_145214.3;TRIM11,frameshift_variant,p.Asp112ThrfsTer51,ENST00000602582,;TRIM11,downstream_gene_variant,,ENST00000366699,;TRIM11,downstream_gene_variant,,ENST00000602308,;AL670729.1,intron_variant,,ENST00000602963,;MIR6742,downstream_gene_variant,,ENST00000622338,;TRIM11,downstream_gene_variant,,ENST00000475775,; - ENSG00000154370 ENST00000284551 Transcript frameshift_variant 1211/2710 937/1407 313/468 D/X Gac/ac 1 NA -1 TRIM11 HGNC HGNC:16281 protein_coding YES CCDS31048.1 ENSP00000284551 Q96F44.181 UPI000005340A NM_145214.3 6/6 Gene3D:2.60.120.920,Pfam:PF13765,Prints:PR01407,PROSITE_profiles:PS50188,PANTHER:PTHR24103,PANTHER:PTHR24103:SF560,SMART:SM00589,Superfamily:SSF49899,CDD:cd15811 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 NA NA NA . GTCC . 1389.6 NA NA NA NA NA NA NA NA NA 228395174 H2AW 92815 . GRCh38 chr1 228457473 228457473 + Silent SNP T T C rs761793820 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.345A>G p.Val115= p.V115= ENST00000366695 1/1 NA NA NA NA NA NA H2AW,synonymous_variant,p.Val115=,ENST00000366695,NM_033445.3;H2BU1,upstream_gene_variant,,ENST00000620438,NM_175055.3;MIR4666A,upstream_gene_variant,,ENST00000580160,;,regulatory_region_variant,,ENSR00000021310,; C ENSG00000181218 ENST00000366695 Transcript synonymous_variant 401/895 345/393 115/130 V gtA/gtG rs761793820,COSV64209514 1 NA -1 H2AW HGNC HGNC:20507 protein_coding YES CCDS1573.1 ENSP00000355656 Q7L7L0.145 UPI0000073CEF NM_033445.3 1/1 Gene3D:1.10.20.10,Pfam:PF16211,Prints:PR00620,PANTHER:PTHR23430,PANTHER:PTHR23430:SF220,SMART:SM00414,Superfamily:SSF47113,CDD:cd00074 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA LOW 1 SNV NA NA 0,1 NA NA . GTA . 329.6 NA NA NA NA NA NA NA NA NA 228457473 H2AW 92815 . GRCh38 chr1 228457500 228457500 + Silent SNP A A G rs758423488 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.318T>C p.Gly106= p.G106= ENST00000366695 1/1 NA NA NA NA NA NA H2AW,synonymous_variant,p.Gly106=,ENST00000366695,NM_033445.3;H2BU1,upstream_gene_variant,,ENST00000620438,NM_175055.3;MIR4666A,upstream_gene_variant,,ENST00000580160,;,regulatory_region_variant,,ENSR00000021310,; G ENSG00000181218 ENST00000366695 Transcript synonymous_variant 374/895 318/393 106/130 G ggT/ggC rs758423488,COSV64209520 1 NA -1 H2AW HGNC HGNC:20507 protein_coding YES CCDS1573.1 ENSP00000355656 Q7L7L0.145 UPI0000073CEF NM_033445.3 1/1 Gene3D:1.10.20.10,Pfam:PF16211,Prints:PR00620,PANTHER:PTHR23430,PANTHER:PTHR23430:SF220,SMART:SM00414,Superfamily:SSF47113,CDD:cd00074 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA LOW 1 SNV NA NA 0,1 NA NA . CAC . 1080.6 3.979e-06 NA NA NA NA NA NA NA 3.267e-05 228457500 H2AW 92815 . GRCh38 chr1 228457605 228457605 + Silent SNP C C G rs781420655 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.213G>C p.Ala71= p.A71= ENST00000366695 1/1 NA NA NA NA NA NA H2AW,synonymous_variant,p.Ala71=,ENST00000366695,NM_033445.3;H2BU1,upstream_gene_variant,,ENST00000620438,NM_175055.3;MIR4666A,upstream_gene_variant,,ENST00000580160,;,regulatory_region_variant,,ENSR00000021310,; G ENSG00000181218 ENST00000366695 Transcript synonymous_variant 269/895 213/393 71/130 A gcG/gcC rs781420655,COSV64209524 1 NA -1 H2AW HGNC HGNC:20507 protein_coding YES CCDS1573.1 ENSP00000355656 Q7L7L0.145 UPI0000073CEF NM_033445.3 1/1 Gene3D:1.10.20.10,Pfam:PF00125,Prints:PR00620,PANTHER:PTHR23430,PANTHER:PTHR23430:SF220,SMART:SM00414,Superfamily:SSF47113,CDD:cd00074 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA LOW 1 SNV NA NA 0,1 NA NA . GCG . 1938.6 NA NA NA NA NA NA NA NA NA 228457605 H2AW 92815 . GRCh38 chr1 228457617 228457617 + Silent SNP G G C rs141124282 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.201C>G p.Ala67= p.A67= ENST00000366695 1/1 NA NA NA NA NA NA H2AW,synonymous_variant,p.Ala67=,ENST00000366695,NM_033445.3;H2BU1,upstream_gene_variant,,ENST00000620438,NM_175055.3;MIR4666A,upstream_gene_variant,,ENST00000580160,;,regulatory_region_variant,,ENSR00000021310,; C ENSG00000181218 ENST00000366695 Transcript synonymous_variant 257/895 201/393 67/130 A gcC/gcG rs141124282 1 NA -1 H2AW HGNC HGNC:20507 protein_coding YES CCDS1573.1 ENSP00000355656 Q7L7L0.145 UPI0000073CEF NM_033445.3 1/1 Gene3D:1.10.20.10,Pfam:PF00125,Prints:PR00620,PANTHER:PTHR23430,PANTHER:PTHR23430:SF220,SMART:SM00414,Superfamily:SSF47113,CDD:cd00074 NA NA NA NA NA NA NA NA 0.0001163 NA NA NA NA LOW 1 SNV NA NA NA NA . CGG . 1113.6 7.964e-06 NA NA NA NA NA 1.762e-05 NA NA 228457617 H2AW 92815 . GRCh38 chr1 228457620 228457620 + Silent SNP A A C rs779759320 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.198T>G p.Leu66= p.L66= ENST00000366695 1/1 NA NA NA NA NA NA H2AW,synonymous_variant,p.Leu66=,ENST00000366695,NM_033445.3;H2BU1,upstream_gene_variant,,ENST00000620438,NM_175055.3;MIR4666A,upstream_gene_variant,,ENST00000580160,;,regulatory_region_variant,,ENSR00000021310,; C ENSG00000181218 ENST00000366695 Transcript synonymous_variant 254/895 198/393 66/130 L ctT/ctG rs779759320,COSV64209984 1 NA -1 H2AW HGNC HGNC:20507 protein_coding YES CCDS1573.1 ENSP00000355656 Q7L7L0.145 UPI0000073CEF NM_033445.3 1/1 Gene3D:1.10.20.10,Pfam:PF00125,Prints:PR00620,PANTHER:PTHR23430,PANTHER:PTHR23430:SF220,SMART:SM00414,Superfamily:SSF47113,CDD:cd00074 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA LOW 1 SNV NA NA 0,1 NA NA . CAA . 1214.6 NA NA NA NA NA NA NA NA NA 228457620 ACTA1 58 . GRCh38 chr1 229432686 229432686 + Silent SNP G G T rs41271479 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.324C>A p.Thr108= p.T108= ENST00000366684 3/7 NA NA NA NA NA NA ACTA1,synonymous_variant,p.Thr108=,ENST00000366684,NM_001100.4;ACTA1,synonymous_variant,p.Thr108=,ENST00000366683,;,regulatory_region_variant,,ENSR00000938431,; T ENSG00000143632 ENST00000366684 Transcript synonymous_variant 427/1491 324/1134 108/377 T acC/acA rs41271479 1 NA -1 ACTA1 HGNC HGNC:129 protein_coding YES CCDS1578.1 ENSP00000355645 P68133.170 UPI0000000860 NM_001100.4 3/7 Gene3D:3.30.420.40,Pfam:PF00022,PROSITE_patterns:PS01132,PANTHER:PTHR11937,PANTHER:PTHR11937:SF416,SMART:SM00268,Superfamily:SSF53067,CDD:cd00012 NA NA NA NA NA NA NA NA 0.0002326 likely_benign NA NA NA NA LOW 1 SNV 1 NA 1 NA 1 . CGG . 10903.6 9.547e-05 NA NA NA NA NA 0.0002111 NA NA 229432686 NUP133 55746 . GRCh38 chr1 229508215 229508215 + Missense_Mutation SNP C C T rs755873839 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.35G>A p.Gly12Asp p.G12D ENST00000261396 1/26 NA NA NA NA NA NA NUP133,missense_variant,p.Gly12Asp,ENST00000261396,NM_018230.3;AL121990.1,upstream_gene_variant,,ENST00000417605,;NUP133,non_coding_transcript_exon_variant,,ENST00000366678,;,regulatory_region_variant,,ENSR00000021486,;,TF_binding_site_variant,,ENSM00526119729,;,TF_binding_site_variant,,ENSM00205960243,;,TF_binding_site_variant,,ENSM00207149420,; T ENSG00000069248 ENST00000261396 Transcript missense_variant 127/5208 35/3471 12/1156 G/D gGt/gAt rs755873839 1 NA -1 NUP133 HGNC HGNC:18016 protein_coding YES CCDS1579.1 ENSP00000261396 Q8WUM0.180 UPI000013D17A NM_018230.3 deleterious(0.01) benign(0.444) 1/26 PDB-ENSP_mappings:5a9q.3,PDB-ENSP_mappings:5a9q.C,PDB-ENSP_mappings:5a9q.L,PDB-ENSP_mappings:5a9q.U,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . ACC . 1121.6 NA NA NA NA NA NA NA NA NA 229508215 URB2 9816 . GRCh38 chr1 229635439 229635439 + Missense_Mutation SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.826G>A p.Ala276Thr p.A276T ENST00000258243 4/10 NA NA NA NA NA NA URB2,missense_variant,p.Ala276Thr,ENST00000258243,NM_001314021.1,NM_014777.4; A ENSG00000135763 ENST00000258243 Transcript missense_variant 949/5601 826/4575 276/1524 A/T Gct/Act 1 NA 1 URB2 HGNC HGNC:28967 protein_coding YES CCDS31052.1 ENSP00000258243 Q14146.142 UPI000013CFBD NM_001314021.1,NM_014777.4 tolerated(0.69) benign(0.001) 4/10 PANTHER:PTHR15682 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . GGC . 7054.6 NA NA NA NA NA NA NA NA NA 229635439 URB2 9816 . GRCh38 chr1 229659277 229659277 + Nonsense_Mutation SNP G G T novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4555G>T p.Glu1519Ter p.E1519* ENST00000258243 10/10 NA NA NA NA NA NA URB2,stop_gained,p.Glu1519Ter,ENST00000258243,NM_001314021.1,NM_014777.4;URB2,downstream_gene_variant,,ENST00000434387,; T ENSG00000135763 ENST00000258243 Transcript stop_gained 4678/5601 4555/4575 1519/1524 E/* Gag/Tag 1 NA 1 URB2 HGNC HGNC:28967 protein_coding YES CCDS31052.1 ENSP00000258243 Q14146.142 UPI000013CFBD NM_001314021.1,NM_014777.4 10/10 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 SNV 1 NA NA NA . AGA . 1526.6 NA NA NA NA NA NA NA NA NA 229659277 AGT 183 . GRCh38 chr1 230703308 230703309 + Frame_Shift_Ins INS - - A rs387906578 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1290dup p.Glu431Ter p.E431* ENST00000366667 5/5 NA NA NA NA NA NA AGT,frameshift_variant,p.Glu431Ter,ENST00000366667,NM_001382817.1,NM_000029.4;,regulatory_region_variant,,ENSR00000389801,;,TF_binding_site_variant,,ENSM00195227895,; A ENSG00000135744 ENST00000366667 Transcript frameshift_variant 1330-1331/2116 1290-1291/1458 430-431/485 -/X -/T rs387906578 1 NA -1 AGT HGNC HGNC:333 protein_coding YES CCDS1585.1 ENSP00000355627 P01019.232 B0ZBE2.115 UPI0000125B13 NM_001382817.1,NM_000029.4 5/5 Gene3D:2.30.39.10,PDB-ENSP_mappings:2wxw.A,PDB-ENSP_mappings:2x0b.B,PDB-ENSP_mappings:2x0b.D,PDB-ENSP_mappings:2x0b.F,PDB-ENSP_mappings:2x0b.H,Gene3D:3.30.497.10,PDB-ENSP_mappings:5m3x.A,PDB-ENSP_mappings:5m3x.B,PDB-ENSP_mappings:5m3y.A,PDB-ENSP_mappings:6i3f.A,PDB-ENSP_mappings:6i3i.A,Pfam:PF00079,PANTHER:PTHR11461,PANTHER:PTHR11461:SF13,SMART:SM00093,Superfamily:SSF56574,CDD:cd02054 NA NA NA NA NA NA NA NA NA pathogenic 17036344 NA NA NA NA HIGH 1 insertion 1 NA 1 NA 1 . TCA . 2674.64 1.997e-05 NA 8.679e-05 NA NA NA 8.864e-06 0.0001631 NA 230703308 AGT 183 . GRCh38 chr1 230704223 230704223 + Frame_Shift_Del DEL T T - novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1239del p.Lys413AsnfsTer2 p.K413Nfs*2 ENST00000366667 4/5 NA NA NA NA NA NA AGT,frameshift_variant,p.Lys413AsnfsTer2,ENST00000366667,NM_001382817.1,NM_000029.4; - ENSG00000135744 ENST00000366667 Transcript frameshift_variant 1279/2116 1239/1458 413/485 K/X aaA/aa 1 NA -1 AGT HGNC HGNC:333 protein_coding YES CCDS1585.1 ENSP00000355627 P01019.232 B0ZBE2.115 UPI0000125B13 NM_001382817.1,NM_000029.4 4/5 Gene3D:2.30.39.10,PDB-ENSP_mappings:2wxw.A,PDB-ENSP_mappings:2x0b.B,PDB-ENSP_mappings:2x0b.D,PDB-ENSP_mappings:2x0b.F,PDB-ENSP_mappings:2x0b.H,Gene3D:3.30.497.10,PDB-ENSP_mappings:5m3x.A,PDB-ENSP_mappings:5m3x.B,PDB-ENSP_mappings:5m3y.A,PDB-ENSP_mappings:6i3f.A,PDB-ENSP_mappings:6i3i.A,Pfam:PF00079,PANTHER:PTHR11461,PANTHER:PTHR11461:SF13,SMART:SM00093,Superfamily:SSF56574,CDD:cd02054 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 NA NA 1 . AATT . 1899.6 NA NA NA NA NA NA NA NA NA 230704222 SIPA1L2 57568 . GRCh38 chr1 232461113 232461113 + Missense_Mutation SNP C C T rs764860690 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2869G>A p.Gly957Arg p.G957R ENST00000676213 9/23 NA NA NA NA NA NA SIPA1L2,missense_variant,p.Gly957Arg,ENST00000674749,;SIPA1L2,missense_variant,p.Gly957Arg,ENST00000674635,NM_020808.5;SIPA1L2,missense_variant,p.Gly957Arg,ENST00000675407,;SIPA1L2,missense_variant,p.Gly957Arg,ENST00000676213,;SIPA1L2,missense_variant,p.Gly957Arg,ENST00000366630,;SIPA1L2,missense_variant,p.Gly957Arg,ENST00000675685,NM_001377488.1;SIPA1L2,missense_variant,p.Gly957Arg,ENST00000262861,;SIPA1L2,missense_variant,p.Gly31Arg,ENST00000308942,;SIPA1L2,3_prime_UTR_variant,,ENST00000674801,; T ENSG00000116991 ENST00000676213 Transcript missense_variant 3225/6815 2869/5322 957/1773 G/R Ggg/Agg rs764860690,COSV53383844 1 NA -1 SIPA1L2 HGNC HGNC:23800 protein_coding YES ENSP00000501897 deleterious(0) probably_damaging(0.982) 9/23 Gene3D:2.30.42.10,Pfam:PF00595,PROSITE_profiles:PS50106,PANTHER:PTHR15711,PANTHER:PTHR15711:SF7,Superfamily:SSF50156,CDD:cd00992 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV NA NA 0,1 NA NA . CCG . 1677.6 8.014e-06 NA NA NA NA NA 8.828e-06 NA 3.268e-05 232461113 PCNX2 80003 . GRCh38 chr1 232986495 232986495 + Missense_Mutation SNP A A G novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.5837T>C p.Leu1946Pro p.L1946P ENST00000258229 33/34 NA NA NA NA NA NA PCNX2,missense_variant,p.Leu1946Pro,ENST00000258229,NM_014801.4;PCNX2,missense_variant,p.Leu598Pro,ENST00000344698,;NTPCR,downstream_gene_variant,,ENST00000366628,NM_001329452.2,NM_032324.3,NM_001329453.2;PCNX2,upstream_gene_variant,,ENST00000462762,;PCNX2,upstream_gene_variant,,ENST00000496675,;PCNX2,3_prime_UTR_variant,,ENST00000462233,; G ENSG00000135749 ENST00000258229 Transcript missense_variant 6084/7530 5837/6414 1946/2137 L/P cTa/cCa 1 NA -1 PCNX2 HGNC HGNC:8736 protein_coding YES CCDS44335.1 ENSP00000258229 A6NKB5.102 UPI0000F58F23 NM_014801.4 tolerated(0.08) possibly_damaging(0.564) 33/34 PANTHER:PTHR12372,PANTHER:PTHR12372:SF5,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . TAG . 3900.6 NA NA NA NA NA NA NA NA NA 232986495 SLC35F3 148641 . GRCh38 chr1 233905617 233905617 + Missense_Mutation SNP G G A NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.142G>A p.Glu48Lys p.E48K ENST00000366618 2/8 NA NA NA NA NA NA SLC35F3,missense_variant,p.Glu48Lys,ENST00000366618,NM_173508.4;AL713868.1,non_coding_transcript_exon_variant,,ENST00000654531,;,regulatory_region_variant,,ENSR00000022029,; A ENSG00000183780 ENST00000366618 Transcript missense_variant 544/3143 142/1473 48/490 E/K Gag/Aag COSV100785313 1 NA 1 SLC35F3 HGNC HGNC:23616 protein_coding YES CCDS1600.1 ENSP00000355577 Q8IY50.109 UPI000006DD13 NM_173508.4 tolerated_low_confidence(0.12) probably_damaging(0.988) 2/8 PANTHER:PTHR19346,PANTHER:PTHR19346:SF3 NA NA NA NA NA NA NA NA NA 1 NA NA NA NA MODERATE 1 SNV 2 NA 1 NA NA . CGA . 3345.6 NA NA NA NA NA NA NA NA NA 233905617 IRF2BP2 359948 . GRCh38 chr1 234608784 234608784 + Silent SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.711G>A p.Arg237= p.R237= ENST00000366609 1/2 NA NA NA NA NA NA IRF2BP2,synonymous_variant,p.Arg237=,ENST00000366609,NM_182972.2;IRF2BP2,synonymous_variant,p.Arg237=,ENST00000366610,NM_001077397.1;AL160408.2,intron_variant,,ENST00000436039,;IRF2BP2,upstream_gene_variant,,ENST00000491430,;,regulatory_region_variant,,ENSR00000257385,; T ENSG00000168264 ENST00000366609 Transcript synonymous_variant 742/4663 711/1764 237/587 R cgG/cgA 1 NA -1 IRF2BP2 HGNC HGNC:21729 protein_coding YES CCDS1602.1 ENSP00000355568 Q7Z5L9.136 UPI000004FA32 NM_182972.2 1/2 PANTHER:PTHR10816,PANTHER:PTHR10816:SF18,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . GCC . 955.6 NA NA NA NA NA NA NA NA NA 234608784 LGALS8 3964 . GRCh38 chr1 236544808 236544808 + Missense_Mutation SNP C C T rs769554222 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.823C>T p.Arg275Cys p.R275C ENST00000526589 13/14 NA NA NA NA NA NA LGALS8,missense_variant,p.Arg275Cys,ENST00000526589,;LGALS8,missense_variant,p.Arg275Cys,ENST00000450372,NM_006499.4;LGALS8,missense_variant,p.Arg216Cys,ENST00000416919,;LGALS8,missense_variant,p.Arg233Cys,ENST00000366584,NM_201543.3,NM_201544.4;LGALS8,missense_variant,p.Arg233Cys,ENST00000341872,;LGALS8,missense_variant,p.Arg206Cys,ENST00000323938,;LGALS8,missense_variant,p.Arg233Cys,ENST00000526634,;LGALS8,missense_variant,p.Arg275Cys,ENST00000352231,NM_201545.2;LGALS8,missense_variant,p.Arg275Cys,ENST00000527974,;LGALS8,missense_variant,p.Arg216Cys,ENST00000525042,;LGALS8,missense_variant,p.Arg174Cys,ENST00000238181,;HEATR1,downstream_gene_variant,,ENST00000366582,NM_018072.6;LGALS8,downstream_gene_variant,,ENST00000406509,;LGALS8,downstream_gene_variant,,ENST00000430527,;LGALS8,downstream_gene_variant,,ENST00000454943,;AL359921.1,intron_variant,,ENST00000433131,;LGALS8,non_coding_transcript_exon_variant,,ENST00000489586,;LGALS8,non_coding_transcript_exon_variant,,ENST00000528259,;LGALS8,non_coding_transcript_exon_variant,,ENST00000525789,;LGALS8,non_coding_transcript_exon_variant,,ENST00000532640,;LGALS8,downstream_gene_variant,,ENST00000366583,;LGALS8,downstream_gene_variant,,ENST00000434231,;LGALS8,downstream_gene_variant,,ENST00000442397,;LGALS8,downstream_gene_variant,,ENST00000526652,;LGALS8,downstream_gene_variant,,ENST00000528782,;LGALS8,downstream_gene_variant,,ENST00000529796,; T ENSG00000116977 ENST00000526589 Transcript missense_variant 1343/6420 823/1080 275/359 R/C Cgc/Tgc rs769554222 1 NA 1 LGALS8 HGNC HGNC:6569 protein_coding YES CCDS1611.1 ENSP00000435460 O00214.190 UPI0000169CE4 deleterious(0.03) possibly_damaging(0.567) 13/14 Gene3D:2.60.120.200,Pfam:PF00337,PROSITE_profiles:PS51304,PANTHER:PTHR11346,PANTHER:PTHR11346:SF22,SMART:SM00276,SMART:SM00908,Superfamily:SSF49899,CDD:cd00070 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE NA SNV 5 NA NA NA . ACG . 4069.6 3.582e-05 6.153e-05 NA NA 5.437e-05 0.0001387 3.52e-05 NA NA 236544808 BECN2 0 . GRCh38 chr1 241958238 241958238 + Missense_Mutation SNP G G A rs56335758 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.472G>A p.Glu158Lys p.E158K ENST00000419583 1/1 NA NA NA NA NA NA BECN2,missense_variant,p.Glu158Lys,ENST00000419583,NM_001290693.1;,regulatory_region_variant,,ENSR00000392094,;,regulatory_region_variant,,ENSR00000392095,; A ENSG00000196289 ENST00000419583 Transcript missense_variant 472/1296 472/1296 158/431 E/K Gag/Aag rs56335758,COSV104420475 1 NA 1 BECN2 HGNC HGNC:38606 protein_coding YES CCDS81433.1 ENSP00000488361 A8MW95.76 UPI00006C0318 NM_001290693.1 tolerated(0.21) benign(0.278) 1/1 PDB-ENSP_mappings:5k7b.A,PDB-ENSP_mappings:5k7b.B,PDB-ENSP_mappings:5k7b.C,PDB-ENSP_mappings:5k7b.D,PDB-ENSP_mappings:5k9l.A,PDB-ENSP_mappings:5k9l.B,PDB-ENSP_mappings:5k9l.C,PDB-ENSP_mappings:5k9l.D,Coiled-coils_(Ncoils):Coil,Pfam:PF17675,PANTHER:PTHR12768,PANTHER:PTHR12768:SF5,Low_complexity_(Seg):seg 0.2941 0.2844 0.3228 NA 0.2242 0.3777 0.273 NA NA benign 0,1 NA NA NA NA MODERATE 1 SNV NA NA 1,1 NA NA . CGA . 2013.6 NA NA NA NA NA NA NA NA NA 241958238 CNST 163882 . GRCh38 chr1 246591878 246591878 + Frame_Shift_Del DEL A A - novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.322del p.Ile108PhefsTer29 p.I108Ffs*29 ENST00000366513 2/11 NA NA NA NA NA NA CNST,frameshift_variant,p.Ile108PhefsTer29,ENST00000366513,NM_152609.3;CNST,frameshift_variant,p.Ile108PhefsTer29,ENST00000366512,NM_001139459.1;CNST,frameshift_variant,p.Ile108PhefsTer?,ENST00000366511,;CNST,non_coding_transcript_exon_variant,,ENST00000483271,;,regulatory_region_variant,,ENSR00000393078,;,TF_binding_site_variant,,ENSM00152234555,; - ENSG00000162852 ENST00000366513 Transcript frameshift_variant 575/5127 316/2178 106/725 K/X Aaa/aa 1 NA 1 CNST HGNC HGNC:26486 protein_coding YES CCDS1628.1 ENSP00000355470 Q6PJW8.126 UPI000013E1DF NM_152609.3 2/11 PANTHER:PTHR28581,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 6 NA NA . ACAA . 1025.6 NA NA NA NA NA NA NA NA NA 246591877 OR11L1 391189 . GRCh38 chr1 247841430 247841430 + Missense_Mutation SNP C C T rs767035986 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.467G>A p.Gly156Asp p.G156D ENST00000355784 1/1 NA NA NA NA NA NA OR11L1,missense_variant,p.Gly156Asp,ENST00000355784,NM_001001959.1; T ENSG00000197591 ENST00000355784 Transcript missense_variant 467/969 467/969 156/322 G/D gGc/gAc rs767035986 1 NA -1 OR11L1 HGNC HGNC:14998 protein_coding YES CCDS31098.1 ENSP00000348033 Q8NGX0.139 UPI0000061EBC NM_001001959.1 tolerated(0.18) possibly_damaging(0.648) 1/1 Gene3D:1.20.1070.10,Pfam:PF13853,PROSITE_profiles:PS50262,PANTHER:PTHR26452,PANTHER:PTHR26452:SF701,Superfamily:SSF81321,Transmembrane_helices:TMhelix,CDD:cd13954 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV NA NA NA NA . GCC . 3880.6 3.978e-06 NA NA NA NA NA 8.797e-06 NA NA 247841430 OR2T29 343563 . GRCh38 chr1 248559455 248559455 + Missense_Mutation SNP T T A rs776458271 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.37A>T p.Arg13Trp p.R13W ENST00000641069 2/2 NA NA NA NA NA NA OR2T29,missense_variant,p.Arg13Trp,ENST00000641069,;OR2T29,missense_variant,p.Arg13Trp,ENST00000328570,NM_001004694.2;AC098483.1,intron_variant,,ENST00000438623,;AC098483.1,upstream_gene_variant,,ENST00000436515,;AC098483.1,upstream_gene_variant,,ENST00000666951,; A ENSG00000182783 ENST00000641069 Transcript missense_variant 94/2637 37/948 13/315 R/W Agg/Tgg rs776458271,COSV60771553 1 NA -1 OR2T29 HGNC HGNC:31253 protein_coding YES CCDS55695.1 ENSP00000492895 Q8NH02.140 UPI000004F23C tolerated(0.25) benign(0) 2/2 PANTHER:PTHR26453,PANTHER:PTHR26453:SF316,Superfamily:SSF81321 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV NA NA 0,1 NA NA . CTT . 960.6 2.006e-05 NA 2.939e-05 NA NA 0.0001889 NA NA NA 248559455 OR2T29 343563 . GRCh38 chr1 248559466 248559466 + Missense_Mutation SNP T T C rs764893066 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.26A>G p.Asn9Ser p.N9S ENST00000641069 2/2 NA NA NA NA NA NA OR2T29,missense_variant,p.Asn9Ser,ENST00000641069,;OR2T29,missense_variant,p.Asn9Ser,ENST00000328570,NM_001004694.2;AC098483.1,intron_variant,,ENST00000438623,;AC098483.1,upstream_gene_variant,,ENST00000436515,;AC098483.1,upstream_gene_variant,,ENST00000666951,; C ENSG00000182783 ENST00000641069 Transcript missense_variant 83/2637 26/948 9/315 N/S aAc/aGc rs764893066,COSV60771564 1 NA -1 OR2T29 HGNC HGNC:31253 protein_coding YES CCDS55695.1 ENSP00000492895 Q8NH02.140 UPI000004F23C deleterious(0.02) benign(0.033) 2/2 PANTHER:PTHR26453,PANTHER:PTHR26453:SF316,Superfamily:SSF81321 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV NA NA 0,1 NA NA . GTT . 786.6 8.004e-06 NA NA NA NA 9.393e-05 NA NA NA 248559466 OR2T29 343563 . GRCh38 chr1 248559487 248559487 + Missense_Mutation SNP G G T rs1266832853 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.5C>A p.Ala2Asp p.A2D ENST00000641069 2/2 NA NA NA NA NA NA OR2T29,missense_variant,p.Ala2Asp,ENST00000641069,;OR2T29,missense_variant,p.Ala2Asp,ENST00000328570,NM_001004694.2;AC098483.1,intron_variant,,ENST00000438623,;AC098483.1,upstream_gene_variant,,ENST00000436515,;AC098483.1,upstream_gene_variant,,ENST00000666951,; T ENSG00000182783 ENST00000641069 Transcript missense_variant 62/2637 5/948 2/315 A/D gCc/gAc rs1266832853,COSV60771474 1 NA -1 OR2T29 HGNC HGNC:31253 protein_coding YES CCDS55695.1 ENSP00000492895 Q8NH02.140 UPI000004F23C tolerated_low_confidence(1) benign(0) 2/2 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV NA NA 0,1 NA NA . GGC . 537.6 1.6e-05 NA NA NA NA 9.341e-05 1.765e-05 NA NA 248559487 CR589904.2 0 . GRCh38 chr1 248745207 248745207 + Missense_Mutation SNP T T C rs62652287 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.134A>G p.His45Arg p.H45R ENST00000651827 2/5 NA NA NA NA NA NA CR589904.2,missense_variant,p.His45Arg,ENST00000651827,;LYPD8,missense_variant,p.His137Arg,ENST00000590317,NM_001291283.1,NM_001085474.2;CR589904.2,missense_variant,p.His25Arg,ENST00000566597,;,regulatory_region_variant,,ENSR00000940123,; C ENSG00000286015 ENST00000651827 Transcript missense_variant 134/1449 134/327 45/108 H/R cAt/cGt rs62652287 1 NA -1 CR589904.2 Clone_based_ensembl_gene protein_coding YES ENSP00000498451 A0A494C0A1.3 UPI00108E3CB8 tolerated_low_confidence(0.54) benign(0) 2/5 PANTHER:PTHR20914,PANTHER:PTHR20914:SF2 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE NA SNV NA NA NA NA . ATG . 6802.03 NA NA NA NA NA NA NA NA NA 248745207 MYT1L 23040 . GRCh38 chr2 1922321 1922321 + Missense_Mutation SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1448G>A p.Ser483Asn p.S483N ENST00000644820 10/26 NA NA NA NA NA NA MYT1L,missense_variant,p.Ser483Asn,ENST00000648928,NM_001329847.2;MYT1L,missense_variant,p.Ser483Asn,ENST00000648339,;MYT1L,missense_variant,p.Ser483Asn,ENST00000648318,NM_001329852.2;MYT1L,missense_variant,p.Ser483Asn,ENST00000644820,;MYT1L,missense_variant,p.Ser483Asn,ENST00000649663,NM_001329851.2;MYT1L,missense_variant,p.Ser483Asn,ENST00000647738,NM_001303052.2;MYT1L,missense_variant,p.Ser483Asn,ENST00000650485,;MYT1L,missense_variant,p.Ser483Asn,ENST00000399161,NM_015025.4;MYT1L,missense_variant,p.Ser482Asn,ENST00000650560,;MYT1L,missense_variant,p.Ser483Asn,ENST00000649207,NM_001329848.1;MYT1L,missense_variant,p.Ser483Asn,ENST00000428368,NM_001329844.2;MYT1L,missense_variant,p.Ser483Asn,ENST00000648316,;MYT1L,missense_variant,p.Ser483Asn,ENST00000647694,NM_001329845.1;MYT1L,missense_variant,p.Ser462Asn,ENST00000647618,;MYT1L,missense_variant,p.Ser483Asn,ENST00000647755,NM_001329846.2;MYT1L,missense_variant,p.Ser84Asn,ENST00000648931,;MYT1L,missense_variant,p.Ser483Asn,ENST00000648665,NM_001329849.2;MYT1L,missense_variant,p.Ser222Asn,ENST00000648753,;MYT1L,missense_variant,p.Ser483Asn,ENST00000649810,;MYT1L,missense_variant,p.Ser315Asn,ENST00000648430,;MYT1L,missense_variant,p.Ser66Asn,ENST00000470954,;MYT1L,missense_variant,p.Ser483Asn,ENST00000649641,;MYT1L,missense_variant,p.Ser217Asn,ENST00000648943,;MYT1L,intron_variant,,ENST00000648627,;MYT1L,intron_variant,,ENST00000648933,;MYT1L,intron_variant,,ENST00000649709,;MYT1L,intron_variant,,ENST00000650399,;MYT1L,downstream_gene_variant,,ENST00000649313,;MYT1L,upstream_gene_variant,,ENST00000649840,;MYT1L,missense_variant,p.Ser84Asn,ENST00000647687,;MYT1L,missense_variant,p.Ser137Asn,ENST00000602387,;MYT1L,3_prime_UTR_variant,,ENST00000650081,; T ENSG00000186487 ENST00000644820 Transcript missense_variant 2350/7269 1448/3624 483/1207 S/N aGt/aAt 1 NA -1 MYT1L HGNC HGNC:7623 protein_coding YES ENSP00000496210 A0A2R8YF72.15 UPI0003EAF271 tolerated(0.5) benign(0.007) 10/26 PANTHER:PTHR10816,PANTHER:PTHR10816:SF11,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV NA NA NA 1 . ACT . 2696.6 NA NA NA NA NA NA NA NA NA 1922321 MBOAT2 129642 . GRCh38 chr2 8958507 8958507 + Frame_Shift_Del DEL A A - novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.211del p.Cys71AlafsTer20 p.C71Afs*20 ENST00000305997 2/13 NA NA NA NA NA NA MBOAT2,frameshift_variant,p.Cys71AlafsTer20,ENST00000305997,NM_001321266.2,NM_001321265.2,NM_138799.4,NM_001321267.2;MBOAT2,intron_variant,,ENST00000462696,;MBOAT2,non_coding_transcript_exon_variant,,ENST00000486484,;MBOAT2,non_coding_transcript_exon_variant,,ENST00000474341,;MBOAT2,non_coding_transcript_exon_variant,,ENST00000460786,;MBOAT2,intron_variant,,ENST00000477073,;,regulatory_region_variant,,ENSR00001027342,; - ENSG00000143797 ENST00000305997 Transcript frameshift_variant 281/7622 211/1563 71/520 C/X Tgc/gc 1 NA -1 MBOAT2 HGNC HGNC:25193 protein_coding YES CCDS1660.1 ENSP00000302177 Q6ZWT7.113 UPI0000231CFB NM_001321266.2,NM_001321265.2,NM_138799.4,NM_001321267.2 2/13 Transmembrane_helices:TMhelix,PANTHER:PTHR13906:SF7,PANTHER:PTHR13906,Pfam:PF03062 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 NA NA NA . GCAA . 2189.6 NA NA NA NA NA NA NA NA NA 8958506 ASAP2 8853 . GRCh38 chr2 9379036 9379036 + Missense_Mutation SNP G G A rs757978691 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1925G>A p.Arg642Gln p.R642Q ENST00000281419 19/28 NA NA NA NA NA NA ASAP2,missense_variant,p.Arg642Gln,ENST00000281419,NM_003887.3;ASAP2,missense_variant,p.Arg642Gln,ENST00000315273,NM_001135191.1;,regulatory_region_variant,,ENSR00000112580,; A ENSG00000151693 ENST00000281419 Transcript missense_variant 2218/5665 1925/3021 642/1006 R/Q cGg/cAg rs757978691 1 NA 1 ASAP2 HGNC HGNC:2721 protein_coding YES CCDS1661.1 ENSP00000281419 O43150.189 UPI0000073459 NM_003887.3 deleterious(0) probably_damaging(0.927) 19/28 PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,PANTHER:PTHR45854:SF4,PANTHER:PTHR45854,Gene3D:1.25.40.20,Pfam:PF12796,SMART:SM00248,Superfamily:SSF48403 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CGG . 2922.6 9.083e-06 NA NA NA NA NA 9.89e-06 NA 3.843e-05 9379036 LPIN1 23175 . GRCh38 chr2 11804452 11804452 + Silent SNP C C T rs372109726 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2190C>T p.Asn730= p.N730= ENST00000449576 17/22 NA NA NA NA NA NA LPIN1,synonymous_variant,p.Asn687=,ENST00000396097,;LPIN1,synonymous_variant,p.Asn651=,ENST00000425416,NM_001261427.2;LPIN1,synonymous_variant,p.Asn681=,ENST00000674199,NM_001349204.2,NM_001349202.2,NM_001349206.2,NM_001349203.2,NM_001349205.1;LPIN1,synonymous_variant,p.Asn645=,ENST00000256720,NM_001349200.2,NM_001349199.2,NM_001349201.2,NM_145693.4;LPIN1,synonymous_variant,p.Asn730=,ENST00000449576,NM_001261428.3,NM_001349208.2,NM_001349207.2;LPIN1,synonymous_variant,p.Asn172=,ENST00000454151,;LPIN1,non_coding_transcript_exon_variant,,ENST00000404113,;LPIN1,stop_gained,p.Arg686Ter,ENST00000396099,;LPIN1,non_coding_transcript_exon_variant,,ENST00000487346,; T ENSG00000134324 ENST00000449576 Transcript synonymous_variant 2243/3077 2190/2928 730/975 N aaC/aaT rs372109726 1 NA 1 LPIN1 HGNC HGNC:13345 protein_coding YES CCDS58699.1 ENSP00000397908 Q14693.170 UPI0002064F62 NM_001261428.3,NM_001349208.2,NM_001349207.2 17/22 Pfam:PF08235,PANTHER:PTHR12181,PANTHER:PTHR12181:SF10 4e-04 8e-04 NA NA NA NA 0.001 0.000227 0.0002326 NA NA NA NA LOW 1 SNV 2 NA NA 1 . ACG . 3597.6 5.17e-05 0.000123 2.891e-05 0.0002977 NA 4.619e-05 3.517e-05 NA 6.533e-05 11804452 NT5C1B 93034 . GRCh38 chr2 18584805 18584805 + Silent SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.612G>A p.Arg204= p.R204= ENST00000359846 5/10 NA NA NA NA NA NA NT5C1B,synonymous_variant,p.Arg144=,ENST00000304081,NM_033253.4;NT5C1B,synonymous_variant,p.Arg204=,ENST00000359846,NM_001199086.2,NM_001002006.3,NM_001199088.2,NM_001199087.2;NT5C1B-RDH14,synonymous_variant,p.Arg204=,ENST00000532967,NM_001199104.1;NT5C1B-RDH14,synonymous_variant,p.Arg146=,ENST00000444297,NM_001199103.1;NT5C1B,downstream_gene_variant,,ENST00000416783,;NT5C1B,upstream_gene_variant,,ENST00000418427,;RNU6-1215P,upstream_gene_variant,,ENST00000384441,;NT5C1B,downstream_gene_variant,,ENST00000460052,;NT5C1B,missense_variant,p.Gly122Asp,ENST00000406971,;NT5C1B,non_coding_transcript_exon_variant,,ENST00000490687,; T ENSG00000185013 ENST00000359846 Transcript synonymous_variant 690/2475 612/1833 204/610 R cgG/cgA 1 NA -1 NT5C1B HGNC HGNC:17818 protein_coding YES CCDS33150.1 ENSP00000352904 Q96P26.143 A0A140VJC7.23 UPI000035B1B0 NM_001199086.2,NM_001002006.3,NM_001199088.2,NM_001199087.2 5/10 MobiDB_lite:mobidb-lite,PANTHER:PTHR31367,PANTHER:PTHR31367:SF0 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . GCC . 1977.6 NA NA NA NA NA NA NA NA NA 18584805 OSR1 130497 . GRCh38 chr2 19353426 19353426 + Missense_Mutation SNP G G A rs1476174107 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.380C>T p.Thr127Met p.T127M ENST00000272223 2/3 NA NA NA NA NA NA OSR1,missense_variant,p.Thr127Met,ENST00000272223,NM_145260.3;MIR4757,downstream_gene_variant,,ENST00000584244,;OSR1,downstream_gene_variant,,ENST00000498844,;OSR1,non_coding_transcript_exon_variant,,ENST00000487581,;,regulatory_region_variant,,ENSR00000598776,; A ENSG00000143867 ENST00000272223 Transcript missense_variant 695/1906 380/801 127/266 T/M aCg/aTg rs1476174107,COSV55345546 1 NA -1 OSR1 HGNC HGNC:8111 protein_coding YES CCDS1694.1 ENSP00000272223 Q8TAX0.150 UPI000006EA6A NM_145260.3 deleterious(0) probably_damaging(0.997) 2/3 PANTHER:PTHR14196,PANTHER:PTHR14196:SF5 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 1 NA 0,1 NA NA . CGT . 7077.6 NA NA NA NA NA NA NA NA NA 19353426 APOB 338 . GRCh38 chr2 21010646 21010646 + Frame_Shift_Del DEL A A - novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.6222del p.Phe2074LeufsTer16 p.F2074Lfs*16 ENST00000233242 26/29 NA NA NA NA NA NA APOB,frameshift_variant,p.Phe2074LeufsTer16,ENST00000233242,NM_000384.3;APOB,downstream_gene_variant,,ENST00000673739,;APOB,downstream_gene_variant,,ENST00000673882,; - ENSG00000084674 ENST00000233242 Transcript frameshift_variant 6350/14121 6222/13692 2074/4563 F/X ttT/tt 1 NA -1 APOB HGNC HGNC:603 protein_coding YES CCDS1703.1 ENSP00000233242 P04114.234 UPI0004620B75 NM_000384.3 26/29 PANTHER:PTHR13769,PANTHER:PTHR13769:SF1 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 NA NA 1 . TCAA . 16899.6 NA NA NA NA NA NA NA NA NA 21010645 APOB 338 . GRCh38 chr2 21043533 21043533 + Missense_Mutation SNP T T G novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.101A>C p.Asn34Thr p.N34T ENST00000233242 2/29 NA NA NA NA NA NA APOB,missense_variant,p.Asn34Thr,ENST00000233242,NM_000384.3;APOB,missense_variant,p.Asn34Thr,ENST00000399256,;APOB,upstream_gene_variant,,ENST00000673739,;APOB,upstream_gene_variant,,ENST00000673882,;,regulatory_region_variant,,ENSR00000290041,;,regulatory_region_variant,,ENSR00000599178,; G ENSG00000084674 ENST00000233242 Transcript missense_variant 229/14121 101/13692 34/4563 N/T aAt/aCt 1 NA -1 APOB HGNC HGNC:603 protein_coding YES CCDS1703.1 ENSP00000233242 P04114.234 UPI0004620B75 NM_000384.3 tolerated(0.09) benign(0.178) 2/29 PANTHER:PTHR13769,PANTHER:PTHR13769:SF1 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . ATT . 2232.6 NA NA NA NA NA NA NA NA NA 21043533 WDCP 80304 . GRCh38 chr2 24030988 24030988 + Missense_Mutation SNP G G A NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2111C>T p.Ala704Val p.A704V ENST00000295148 4/4 NA NA NA NA NA NA WDCP,missense_variant,p.Ala704Val,ENST00000295148,NM_025203.3;WDCP,3_prime_UTR_variant,,ENST00000406895,NM_001142319.1;MFSD2B,downstream_gene_variant,,ENST00000338315,NM_001346880.2;MFSD2B,downstream_gene_variant,,ENST00000669179,;MFSD2B,intron_variant,,ENST00000453731,;MFSD2B,downstream_gene_variant,,ENST00000469562,; A ENSG00000163026 ENST00000295148 Transcript missense_variant 2207/3848 2111/2166 704/721 A/V gCt/gTt COSV54593163 1 NA -1 WDCP HGNC HGNC:26157 protein_coding YES CCDS1705.1 ENSP00000295148 Q9H6R7.136 UPI0000070788 NM_025203.3 tolerated(0.05) benign(0.009) 4/4 NA NA NA NA NA NA NA NA NA 1 NA NA NA NA MODERATE 1 SNV 2 NA 1 NA 1 . AGC . 510.6 NA NA NA NA NA NA NA NA NA 24030988 ADCY3 109 . GRCh38 chr2 24834847 24834847 + Silent SNP G G A rs779327434 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1752C>T p.His584= p.H584= ENST00000405392 9/21 NA NA NA NA NA NA ADCY3,synonymous_variant,p.His584=,ENST00000260600,NM_001377129.1,NM_004036.5,NM_001377128.1,NM_001377132.1,NM_001377131.1;ADCY3,synonymous_variant,p.His584=,ENST00000405392,NM_001377130.1,NM_001320613.2;ADCY3,synonymous_variant,p.His277=,ENST00000606682,;ADCY3,downstream_gene_variant,,ENST00000427849,;ADCY3,downstream_gene_variant,,ENST00000435135,;ADCY3,upstream_gene_variant,,ENST00000455323,;ADCY3,upstream_gene_variant,,ENST00000450524,;ADCY3,downstream_gene_variant,,ENST00000454027,; A ENSG00000138031 ENST00000405392 Transcript synonymous_variant 1951/4397 1752/3438 584/1145 H caC/caT rs779327434 1 NA -1 ADCY3 HGNC HGNC:234 protein_coding YES CCDS82424.1 ENSP00000384484 A0A0A0MSC1.46 UPI000387D86B NM_001377130.1,NM_001320613.2 9/21 PIRSF:PIRSF039050,PANTHER:PTHR45627,PANTHER:PTHR45627:SF21,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . CGT . 2791.6 1.597e-05 6.187e-05 NA NA NA NA 1.768e-05 NA 3.269e-05 24834847 EFR3B 22979 . GRCh38 chr2 25141409 25141409 + Missense_Mutation SNP A A G novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1898A>G p.Glu633Gly p.E633G ENST00000403714 17/23 NA NA NA NA NA NA EFR3B,missense_variant,p.Glu633Gly,ENST00000403714,NM_014971.2;EFR3B,missense_variant,p.Glu633Gly,ENST00000401432,;EFR3B,missense_variant,p.Glu598Gly,ENST00000402191,NM_001319099.1;EFR3B,missense_variant,p.Glu485Gly,ENST00000405108,;EFR3B,missense_variant,p.Glu468Gly,ENST00000264719,;,regulatory_region_variant,,ENSR00000600008,; G ENSG00000084710 ENST00000403714 Transcript missense_variant 2135/7486 1898/2454 633/817 E/G gAg/gGg 1 NA 1 EFR3B HGNC HGNC:29155 protein_coding YES CCDS46231.1 ENSP00000384081 Q9Y2G0.126 UPI0000208069 NM_014971.2 tolerated(0.05) probably_damaging(0.913) 17/23 PANTHER:PTHR12444:SF4,PANTHER:PTHR12444 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . GAG . 3087.6 NA NA NA NA NA NA NA NA NA 25141409 DNMT3A 1788 . GRCh38 chr2 25247727 25247727 + Missense_Mutation SNP C C A novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.878G>T p.Gly293Val p.G293V ENST00000264709 8/23 NA NA NA NA NA NA DNMT3A,missense_variant,p.Gly293Val,ENST00000264709,NM_175629.2;DNMT3A,missense_variant,p.Gly293Val,ENST00000321117,NM_022552.5;DNMT3A,missense_variant,p.Gly104Val,ENST00000380746,NM_153759.3;DNMT3A,missense_variant,p.Gly70Val,ENST00000402667,NM_001320893.1,NM_001375819.1;DNMT3A,non_coding_transcript_exon_variant,,ENST00000496570,;DNMT3A,non_coding_transcript_exon_variant,,ENST00000470983,;DNMT3A,upstream_gene_variant,,ENST00000461228,;DNMT3A,upstream_gene_variant,,ENST00000474887,;DNMT3A,upstream_gene_variant,,ENST00000482935,;DNMT3A,upstream_gene_variant,,ENST00000491288,;DNMT3A,missense_variant,p.Gly293Val,ENST00000380756,;DNMT3A,non_coding_transcript_exon_variant,,ENST00000474807,;DNMT3A,upstream_gene_variant,,ENST00000484184,; A ENSG00000119772 ENST00000264709 Transcript missense_variant 1216/9501 878/2739 293/912 G/V gGg/gTg 1 NA -1 DNMT3A HGNC HGNC:2978 protein_coding YES CCDS33157.1 ENSP00000264709 Q9Y6K1.183 UPI000000DA70 NM_175629.2 deleterious(0) probably_damaging(0.999) 8/23 PDB-ENSP_mappings:3llr.A,PDB-ENSP_mappings:3llr.B,PDB-ENSP_mappings:3llr.C,PDB-ENSP_mappings:3llr.D,PDB-ENSP_mappings:3llr.E,Superfamily:SSF63748,SMART:SM00293,Gene3D:2.30.30.140,Pfam:PF00855,PANTHER:PTHR23068,PANTHER:PTHR23068:SF10,CDD:cd05835,PROSITE_profiles:PS50812 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . CCC . 1648.6 NA NA NA NA NA NA NA NA NA 25247727 OTOF 9381 . GRCh38 chr2 26464039 26464039 + Silent SNP G G A rs765616249 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.5028C>T p.Arg1676= p.R1676= ENST00000272371 40/47 NA NA NA NA NA NA OTOF,synonymous_variant,p.Arg1676=,ENST00000272371,NM_194248.3;OTOF,synonymous_variant,p.Arg1676=,ENST00000403946,NM_001287489.2;OTOF,synonymous_variant,p.Arg929=,ENST00000402415,NM_194322.3;OTOF,synonymous_variant,p.Arg909=,ENST00000338581,NM_004802.4;OTOF,synonymous_variant,p.Arg909=,ENST00000339598,NM_194323.3;OTOF,non_coding_transcript_exon_variant,,ENST00000464574,;,regulatory_region_variant,,ENSR00000114290,; A ENSG00000115155 ENST00000272371 Transcript synonymous_variant 5213/7214 5028/5994 1676/1997 R cgC/cgT rs765616249,COSV55501001 1 NA -1 OTOF HGNC HGNC:8515 protein_coding YES CCDS1725.1 ENSP00000272371 Q9HC10.177 UPI000013D94D NM_194248.3 40/47 PANTHER:PTHR12546,PANTHER:PTHR12546:SF32 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA LOW 1 SNV 1 NA 0,1 NA 1 . CGC . 4693.6 3.189e-05 NA 8.675e-05 NA NA NA 4.413e-05 NA NA 26464039 MAPRE3 22924 . GRCh38 chr2 27026292 27026292 + Frame_Shift_Del DEL C C - novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.794del p.Pro265LeufsTer25 p.P265Lfs*25 ENST00000233121 7/7 NA NA NA NA NA NA MAPRE3,frameshift_variant,p.Pro265LeufsTer25,ENST00000233121,NM_012326.4,NM_001303050.2;MAPRE3,frameshift_variant,p.Pro250LeufsTer25,ENST00000405074,;MAPRE3,frameshift_variant,p.Pro250LeufsTer25,ENST00000648289,;MAPRE3,frameshift_variant,p.Pro250LeufsTer?,ENST00000402218,;MAPRE3,downstream_gene_variant,,ENST00000458529,;MAPRE3,downstream_gene_variant,,ENST00000491354,;MAPRE3,downstream_gene_variant,,ENST00000474367,;MAPRE3,downstream_gene_variant,,ENST00000475633,;MAPRE3,downstream_gene_variant,,ENST00000481222,;MAPRE3,downstream_gene_variant,,ENST00000494788,; - ENSG00000084764 ENST00000233121 Transcript frameshift_variant 963/1890 790/846 264/281 P/X Ccc/cc 1 NA 1 MAPRE3 HGNC HGNC:6892 protein_coding YES CCDS1731.1 ENSP00000233121 Q9UPY8.186 UPI000012EB1C NM_012326.4,NM_001303050.2 7/7 PDB-ENSP_mappings:3tq7.B,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite,PROSITE_profiles:PS51230,PANTHER:PTHR10623,PANTHER:PTHR10623:SF10 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 4 NA NA . CACC . 3051.6 NA NA NA NA NA NA NA NA NA 27026291 EMILIN1 11117 . GRCh38 chr2 27080941 27080942 + Frame_Shift_Ins INS - - G novel NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.506dup p.Glu170ArgfsTer57 p.E170Rfs*57 ENST00000380320 3/8 NA NA NA NA NA NA EMILIN1,frameshift_variant,p.Glu170ArgfsTer57,ENST00000380320,NM_007046.4;EMILIN1,upstream_gene_variant,,ENST00000433140,;,regulatory_region_variant,,ENSR00000114375,;,regulatory_region_variant,,ENSR00000600533,; G ENSG00000138080 ENST00000380320 Transcript frameshift_variant 951-952/3890 500-501/3051 167/1016 L/LX ctg/ctGg 1 NA 1 EMILIN1 HGNC HGNC:19880 protein_coding YES CCDS1733.1 ENSP00000369677 Q9Y6C2.177 UPI0000073B0E NM_007046.4 3/8 Low_complexity_(Seg):seg,MobiDB_lite:mobidb-lite,PANTHER:PTHR15427:SF1,PANTHER:PTHR15427 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 insertion 1 6 NA 1 . CTG . 3674.64 NA NA NA NA NA NA NA NA NA 27080941 DNAJC5G 285126 . GRCh38 chr2 27276756 27276756 + Missense_Mutation SNP C C T rs142361760 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.28C>T p.Arg10Trp p.R10W ENST00000296097 3/7 NA NA NA NA NA NA DNAJC5G,missense_variant,p.Arg10Trp,ENST00000296097,NM_173650.3;DNAJC5G,missense_variant,p.Arg10Trp,ENST00000402462,NM_001303127.2;DNAJC5G,missense_variant,p.Arg10Trp,ENST00000404433,;DNAJC5G,missense_variant,p.Arg10Trp,ENST00000406962,NM_001303128.2;DNAJC5G,missense_variant,p.Arg10Trp,ENST00000420191,;SLC30A3,upstream_gene_variant,,ENST00000424577,;SLC30A3,upstream_gene_variant,,ENST00000426569,;SLC30A3,upstream_gene_variant,,ENST00000426924,;DNAJC5G,upstream_gene_variant,,ENST00000460358,; T ENSG00000163793 ENST00000296097 Transcript missense_variant 434/2065 28/570 10/189 R/W Cgg/Tgg rs142361760 1 NA 1 DNAJC5G HGNC HGNC:24844 protein_coding YES CCDS1744.1 ENSP00000296097 Q8N7S2.130 UPI0000070AD2 NM_173650.3 deleterious(0) benign(0.028) 3/7 Gene3D:1.10.287.110,PANTHER:PTHR44027,PANTHER:PTHR44027:SF2 NA NA NA NA NA NA NA 0.000227 NA NA NA NA NA MODERATE 1 SNV 2 NA NA NA . CCG . 1380.6 2.387e-05 0.0002461 2.891e-05 NA NA NA 8.794e-06 NA NA 27276756 C2orf16 84226 . GRCh38 chr2 27580281 27580281 + Missense_Mutation SNP C C A NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.13921C>A p.Arg4641Ser p.R4641S ENST00000447166 5/5 NA NA NA NA NA NA C2orf16,missense_variant,p.Arg4641Ser,ENST00000447166,;C2orf16,missense_variant,p.Arg1237Ser,ENST00000408964,NM_032266.3;ZNF512,upstream_gene_variant,,ENST00000355467,NM_032434.4;ZNF512,upstream_gene_variant,,ENST00000379717,;ZNF512,upstream_gene_variant,,ENST00000413371,NM_001271318.1,NM_001271289.1;ZNF512,upstream_gene_variant,,ENST00000416005,NM_001271286.1;ZNF512,upstream_gene_variant,,ENST00000556601,NM_001271287.1,NM_001271288.1;AC074091.2,upstream_gene_variant,,ENST00000505973,;ZNF512,upstream_gene_variant,,ENST00000494548,;ZNF512,upstream_gene_variant,,ENST00000461705,; A ENSG00000221843 ENST00000447166 Transcript missense_variant 13962/16401 13921/16167 4641/5388 R/S Cgc/Agc COSV62674411 1 NA 1 C2orf16 HGNC HGNC:25275 protein_coding YES ENSP00000403181 C9JG08.46 UPI00097BA78F tolerated(0.34) benign(0.001) 5/5 PANTHER:PTHR33888,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA 1 NA NA NA NA MODERATE NA SNV 3 NA 1 NA NA . ACG . 1667.6 NA NA NA NA NA NA NA NA NA 27580281 C2orf16 84226 . GRCh38 chr2 27581420 27581421 + Frame_Shift_Ins INS - - C novel NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.15066dup p.Glu5023ArgfsTer9 p.E5023Rfs*9 ENST00000447166 5/5 NA NA NA NA NA NA C2orf16,frameshift_variant,p.Glu5023ArgfsTer9,ENST00000447166,;C2orf16,frameshift_variant,p.Glu1619ArgfsTer9,ENST00000408964,NM_032266.3;ZNF512,upstream_gene_variant,,ENST00000355467,NM_032434.4;ZNF512,upstream_gene_variant,,ENST00000379717,;ZNF512,upstream_gene_variant,,ENST00000413371,NM_001271318.1,NM_001271289.1;ZNF512,upstream_gene_variant,,ENST00000416005,NM_001271286.1;ZNF512,upstream_gene_variant,,ENST00000556601,NM_001271287.1,NM_001271288.1;AC074091.2,upstream_gene_variant,,ENST00000505973,;ZNF512,upstream_gene_variant,,ENST00000494548,;ZNF512,upstream_gene_variant,,ENST00000461705,; C ENSG00000221843 ENST00000447166 Transcript frameshift_variant 15101-15102/16401 15060-15061/16167 5020-5021/5388 -/X -/C 1 NA 1 C2orf16 HGNC HGNC:25275 protein_coding YES ENSP00000403181 C9JG08.46 UPI00097BA78F 5/5 PANTHER:PTHR33888,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH NA insertion 3 6 NA NA . GTC . 3943.64 NA NA NA NA NA NA NA NA NA 27581420 MRPL33 9553 . GRCh38 chr2 27774498 27774498 + Frame_Shift_Del DEL A A - novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.120del p.Lys40AsnfsTer2 p.K40Nfs*2 ENST00000296102 3/4 NA NA NA NA NA NA MRPL33,frameshift_variant,p.Lys40AsnfsTer2,ENST00000296102,NM_004891.4;MRPL33,intron_variant,,ENST00000379666,NM_145330.2;MRPL33,non_coding_transcript_exon_variant,,ENST00000476552,;MRPL33,intron_variant,,ENST00000483992,;MRPL33,intron_variant,,ENST00000448427,;MRPL33,downstream_gene_variant,,ENST00000472192,; - ENSG00000243147 ENST00000296102 Transcript frameshift_variant 175/508 116/198 39/65 E/X gAa/ga 1 NA 1 MRPL33 HGNC HGNC:14487 protein_coding YES CCDS1761.1 ENSP00000296102 O75394.144 UPI0000073FDD NM_004891.4 3/4 PDB-ENSP_mappings:3j7y.1,PDB-ENSP_mappings:3j9m.1,PDB-ENSP_mappings:5ool.1,PDB-ENSP_mappings:5oom.1,PDB-ENSP_mappings:6nu2.1,PDB-ENSP_mappings:6nu3.1,PANTHER:PTHR47037,Gene3D:2.20.28.120,TIGRFAM:TIGR01023,Pfam:PF00471,Superfamily:SSF57829 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 4 NA NA . GGAA . 2018.6 NA NA NA NA NA NA NA NA NA 27774497 CAPN14 440854 . GRCh38 chr2 31200467 31200467 + Missense_Mutation SNP C C T NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.710G>A p.Cys237Tyr p.C237Y ENST00000403897 6/22 NA NA NA NA NA NA CAPN14,missense_variant,p.Cys237Tyr,ENST00000403897,NM_001321270.1,NM_001145122.2;CAPN14,3_prime_UTR_variant,,ENST00000398824,; T ENSG00000214711 ENST00000403897 Transcript missense_variant 822/3792 710/2055 237/684 C/Y tGc/tAc COSV67289658 1 NA -1 CAPN14 HGNC HGNC:16664 protein_coding YES CCDS46254.1 ENSP00000385247 A8MX76.103 UPI000173A463 NM_001321270.1,NM_001145122.2 deleterious(0.01) probably_damaging(1) 6/22 CDD:cd00044,Pfam:PF00648,Gene3D:3.90.70.10,SMART:SM00230,Superfamily:SSF54001,PROSITE_profiles:PS50203,PANTHER:PTHR10183:SF302,PANTHER:PTHR10183 NA NA NA NA NA NA NA NA NA 1 NA NA NA NA MODERATE 1 SNV 2 NA 1 NA NA . GCA . 2889.6 NA NA NA NA NA NA NA NA NA 31200467 BIRC6 57448 . GRCh38 chr2 32499664 32499664 + Silent SNP G G A rs751536369 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.8586G>A p.Ser2862= p.S2862= ENST00000421745 46/74 NA NA NA NA NA NA BIRC6,synonymous_variant,p.Ser2862=,ENST00000421745,NM_016252.3,NM_001378125.1;BIRC6,synonymous_variant,p.Ser2791=,ENST00000648282,;BIRC6,upstream_gene_variant,,ENST00000497023,; A ENSG00000115760 ENST00000421745 Transcript synonymous_variant 8720/15703 8586/14574 2862/4857 S tcG/tcA rs751536369,COSV70195287 1 NA 1 BIRC6 HGNC HGNC:13516 protein_coding YES CCDS33175.2 ENSP00000393596 Q9NR09.180 UPI000159689D NM_016252.3,NM_001378125.1 46/74 PANTHER:PTHR46116,PANTHER:PTHR46116:SF4 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA LOW 1 SNV 1 NA 0,1 NA 1 . CGG . 3168.6 1.195e-05 NA NA NA NA NA 8.822e-06 NA 6.533e-05 32499664 VIT 5212 . GRCh38 chr2 36758980 36758980 + Frame_Shift_Del DEL A A - novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.425del p.Lys142ArgfsTer3 p.K142Rfs*3 ENST00000379242 6/16 NA NA NA NA NA NA VIT,frameshift_variant,p.Lys142ArgfsTer3,ENST00000379242,NM_053276.4,NM_001328661.2;VIT,frameshift_variant,p.Lys142ArgfsTer3,ENST00000389975,NM_001177969.1;VIT,frameshift_variant,p.Lys142ArgfsTer3,ENST00000379241,NM_001177971.2;VIT,frameshift_variant,p.Lys120ArgfsTer3,ENST00000404084,;VIT,frameshift_variant,p.Lys142ArgfsTer3,ENST00000401530,NM_001177970.2;VIT,frameshift_variant,p.Lys142ArgfsTer3,ENST00000457137,NM_001177972.2;VIT,5_prime_UTR_variant,,ENST00000497382,; - ENSG00000205221 ENST00000379242 Transcript frameshift_variant 723/2810 421/2082 141/693 K/X Aaa/aa 1 NA 1 VIT HGNC HGNC:12697 protein_coding YES CCDS33180.1 ENSP00000368544 Q6UXI7.114 UPI000006E0F8 NM_053276.4,NM_001328661.2 6/16 PANTHER:PTHR24020,PANTHER:PTHR24020:SF23 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 2 4 NA NA . CCAA . 54.6 NA NA NA NA NA NA NA NA NA 36758979 CDC42EP3 10602 . GRCh38 chr2 37646486 37646486 + Silent SNP C C T rs7560028 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.102G>A p.Pro34= p.P34= ENST00000611976 2/2 NA NA NA NA NA NA CDC42EP3,synonymous_variant,p.Pro34=,ENST00000611976,NM_001270436.2;CDC42EP3,synonymous_variant,p.Pro34=,ENST00000295324,NM_001371569.1,NM_001270438.2,NM_001270437.2,NM_001371570.1,NM_006449.5;CDC42EP3,synonymous_variant,p.Pro34=,ENST00000457889,;CDC42EP3,synonymous_variant,p.Pro34=,ENST00000453555,;CDC42EP3,downstream_gene_variant,,ENST00000422687,;AC006369.1,intron_variant,,ENST00000419425,; T ENSG00000163171 ENST00000611976 Transcript synonymous_variant 520/5124 102/765 34/254 P ccG/ccA rs7560028,COSV54874996 1 NA -1 CDC42EP3 HGNC HGNC:16943 protein_coding YES CCDS1791.1 ENSP00000480549 Q9UKI2.145 UPI0000073D2A NM_001270436.2 2/2 PROSITE_profiles:PS50108,PANTHER:PTHR15344:SF3,PANTHER:PTHR15344,Pfam:PF00786,SMART:SM00285 4e-04 NA NA NA 0.002 NA NA NA NA 0,1 NA NA NA NA LOW 1 SNV 3 NA 0,1 NA NA . GCG . 2080.6 6.376e-05 6.152e-05 2.898e-05 NA 0.0003267 NA 5.287e-05 NA 6.541e-05 37646486 DHX57 90957 . GRCh38 chr2 38861780 38861780 + Silent SNP C C A novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.630G>T p.Val210= p.V210= ENST00000457308 5/24 NA NA NA NA NA NA DHX57,synonymous_variant,p.Val210=,ENST00000457308,NM_001329963.1,NM_198963.3;DHX57,downstream_gene_variant,,ENST00000619207,;AC018693.1,intron_variant,,ENST00000442829,;DHX57,non_coding_transcript_exon_variant,,ENST00000479345,;DHX57,upstream_gene_variant,,ENST00000492042,;DHX57,synonymous_variant,p.Val108=,ENST00000620517,;DHX57,non_coding_transcript_exon_variant,,ENST00000622155,;DHX57,non_coding_transcript_exon_variant,,ENST00000474104,; A ENSG00000163214 ENST00000457308 Transcript synonymous_variant 784/4885 630/4161 210/1386 V gtG/gtT 1 NA -1 DHX57 HGNC HGNC:20086 protein_coding YES CCDS1800.1 ENSP00000405111 Q6P158.160 UPI0000231C8C NM_001329963.1,NM_198963.3 5/24 PROSITE_profiles:PS50030,CDD:cd14317,Superfamily:SSF46934 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . CCA . 1967.6 NA NA NA NA NA NA NA NA NA 38861780 SOS1 6654 . GRCh38 chr2 38987473 38987473 + Missense_Mutation SNP C C A novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3510G>T p.Lys1170Asn p.K1170N ENST00000402219 22/23 NA NA NA NA NA NA SOS1,missense_variant,p.Lys1170Asn,ENST00000402219,NM_001382394.1,NM_005633.4;SOS1,missense_variant,p.Lys1155Asn,ENST00000395038,NM_001382395.1;SOS1-IT1,downstream_gene_variant,,ENST00000594472,;SOS1,splice_region_variant,,ENST00000469581,; A ENSG00000115904 ENST00000402219 Transcript missense_variant,splice_region_variant 4139/8906 3510/4002 1170/1333 K/N aaG/aaT 1 NA -1 SOS1 HGNC HGNC:11187 protein_coding YES CCDS1802.1 ENSP00000384675 Q07889.223 UPI0000135CF0 NM_001382394.1,NM_005633.4 deleterious(0.03) possibly_damaging(0.521) 22/23 MobiDB_lite:mobidb-lite,PANTHER:PTHR23113,PANTHER:PTHR23113:SF168 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . CCT . 1831.6 NA NA NA NA NA NA NA NA NA 38987473 SLC8A1 6546 . GRCh38 chr2 40428562 40428562 + Silent SNP T T C rs1316191339 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1719A>G p.Pro573= p.P573= ENST00000403092 2/11 NA NA NA NA NA NA SLC8A1,synonymous_variant,p.Pro573=,ENST00000406785,NM_001351494.2,NM_001351486.2;SLC8A1,synonymous_variant,p.Pro573=,ENST00000403092,NM_001372263.1;SLC8A1,synonymous_variant,p.Pro573=,ENST00000405901,NM_001351490.2,NM_001351483.2,NM_001351491.2,NM_001351487.2,NM_001351484.2,NM_001351492.2,NM_001351488.2,NM_001351489.2,NM_001351485.2,NM_001112800.2;SLC8A1,synonymous_variant,p.Pro573=,ENST00000402441,NM_001112802.2;SLC8A1,synonymous_variant,p.Pro573=,ENST00000405269,;SLC8A1,synonymous_variant,p.Pro573=,ENST00000332839,NM_021097.4;SLC8A1,synonymous_variant,p.Pro573=,ENST00000408028,NM_001351493.2,NM_001112801.3,NM_001252624.2;SLC8A1,synonymous_variant,p.Pro573=,ENST00000406391,;SLC8A1,downstream_gene_variant,,ENST00000417271,;SLC8A1,downstream_gene_variant,,ENST00000448531,;SLC8A1,downstream_gene_variant,,ENST00000455476,;SLC8A1,synonymous_variant,p.Pro570=,ENST00000407929,; C ENSG00000183023 ENST00000403092 Transcript synonymous_variant 1753/3178 1719/2922 573/973 P ccA/ccG rs1316191339 1 NA -1 SLC8A1 HGNC HGNC:11068 protein_coding YES CCDS1806.1 ENSP00000384763 P32418.193 UPI000012FC46 NM_001372263.1 2/11 PANTHER:PTHR11878,PANTHER:PTHR11878:SF6,TIGRFAM:TIGR00845,Pfam:PF03160,SMART:SM00237,Superfamily:SSF141072 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . ATG . 2404.6 NA NA NA NA NA NA NA NA NA 40428562 PPM1B 5495 . GRCh38 chr2 44218513 44218513 + Silent SNP G G T rs746019679 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1110G>T p.Leu370= p.L370= ENST00000282412 5/6 NA NA NA NA NA NA PPM1B,synonymous_variant,p.Leu370=,ENST00000378551,NM_177968.4;PPM1B,synonymous_variant,p.Leu370=,ENST00000409432,NM_001033557.3;PPM1B,synonymous_variant,p.Leu370=,ENST00000282412,NM_002706.6;PPM1B,synonymous_variant,p.Leu370=,ENST00000419807,;PPM1B,synonymous_variant,p.Leu83=,ENST00000345249,NM_177969.3;PPM1B,synonymous_variant,p.Leu295=,ENST00000409473,;PPM1B,non_coding_transcript_exon_variant,,ENST00000378540,;PPM1B,non_coding_transcript_exon_variant,,ENST00000459690,;PPM1B,non_coding_transcript_exon_variant,,ENST00000487286,;AC013717.1,synonymous_variant,p.Leu370=,ENST00000649044,;PPM1B,non_coding_transcript_exon_variant,,ENST00000488866,; T ENSG00000138032 ENST00000282412 Transcript synonymous_variant 1524/2608 1110/1440 370/479 L ctG/ctT rs746019679 1 NA 1 PPM1B HGNC HGNC:9276 protein_coding YES CCDS1817.1 ENSP00000282412 O75688.200 UPI0000130FE7 NM_002706.6 5/6 Gene3D:1.10.10.430,Superfamily:SSF81601 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . TGA . 60.6 4.391e-06 NA NA NA NA NA 9.278e-06 NA NA 44218513 SIX3 6496 . GRCh38 chr2 44942500 44942501 + Frame_Shift_Del DEL GC GC - rs753473749 NA HCI-EC-23 NORMAL GC GC NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.406_407del p.Ala136ArgfsTer17 p.A136Rfs*17 ENST00000260653 1/2 NA NA NA NA NA NA SIX3,frameshift_variant,p.Ala136ArgfsTer17,ENST00000260653,NM_005413.4;SIX3-AS1,upstream_gene_variant,,ENST00000419364,;LINC01833,upstream_gene_variant,,ENST00000437916,;LINC01833,upstream_gene_variant,,ENST00000444871,;SIX3-AS1,upstream_gene_variant,,ENST00000456467,;AC012354.4,downstream_gene_variant,,ENST00000611000,;AC012354.3,downstream_gene_variant,,ENST00000620790,;AC012354.6,downstream_gene_variant,,ENST00000621512,;,regulatory_region_variant,,ENSR00000604345,; - ENSG00000138083 ENST00000260653 Transcript frameshift_variant 799-800/2713 396-397/999 132-133/332 LR/LX ctGCgc/ctgc rs753473749 1 NA 1 SIX3 HGNC HGNC:10889 protein_coding YES CCDS1821.1 ENSP00000260653 O95343.167 UPI00001359C4 NM_005413.4 1/2 PANTHER:PTHR10390:SF31,PANTHER:PTHR10390,Pfam:PF16878 NA NA NA NA NA NA NA 0.02083 0.01708 NA NA NA NA HIGH 1 deletion 1 10 1 NA 1 . CTGCG . 9812.6 3.063e-05 7.229e-05 2.95e-05 NA NA 8.876e-05 3.76e-05 NA NA 44942499 TMEM247 0 . GRCh38 chr2 46480669 46480670 + In_Frame_Ins INS - - AGCGGCAGCACGAGGTGGTGATGGAGCAGCTGCAGCGGG rs879814156 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.419_457dup p.Arg140_Gln152dup p.R140_Q152dup ENST00000434431 2/3 NA NA NA NA NA NA TMEM247,inframe_insertion,p.Arg140_Gln152dup,ENST00000434431,NM_001145051.2;AC016912.2,intron_variant,,ENST00000432241,;AC016912.1,intron_variant,,ENST00000517716,; AGCGGCAGCACGAGGTGGTGATGGAGCAGCTGCAGCGGG ENSG00000284701 ENST00000434431 Transcript inframe_insertion 403-404/680 382-383/659 128/219 Q/QRQHEVVMEQLQRE cag/cAGCGGCAGCACGAGGTGGTGATGGAGCAGCTGCAGCGGGag rs879814156 1 NA 1 TMEM247 HGNC HGNC:42967 protein_coding YES CCDS56117.1 ENSP00000388684 A6NEH6.83 UPI0000366EF8 NM_001145051.2 2/3 Coiled-coils_(Ncoils):Coil,PANTHER:PTHR36691,Pfam:PF15444 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE NA insertion 5 75 NA NA . GCA . 5588.06 NA NA NA NA NA NA NA NA NA 46480669 MCFD2 90411 . GRCh38 chr2 46907916 46907916 + Missense_Mutation SNP G G A rs754442571 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.203C>T p.Ser68Leu p.S68L ENST00000409105 4/5 NA NA NA NA NA NA MCFD2,missense_variant,p.Ser68Leu,ENST00000409105,;MCFD2,missense_variant,p.Ser49Leu,ENST00000444761,NM_001171511.2;MCFD2,missense_variant,p.Ser68Leu,ENST00000319466,NM_139279.6;MCFD2,missense_variant,p.Ser68Leu,ENST00000649435,;MCFD2,missense_variant,p.Ser16Leu,ENST00000409913,NM_001171509.3;MCFD2,missense_variant,p.Ser16Leu,ENST00000409800,NM_001171510.3;MCFD2,missense_variant,p.Ser68Leu,ENST00000409207,NM_001171508.2;MCFD2,missense_variant,p.Ser68Leu,ENST00000409973,NM_001171506.2;MCFD2,missense_variant,p.Ser16Leu,ENST00000409147,;MCFD2,missense_variant,p.Ser68Leu,ENST00000409218,NM_001171507.2;MCFD2,missense_variant,p.Ser68Leu,ENST00000412438,;MCFD2,missense_variant,p.Ser35Leu,ENST00000434262,;MCFD2,downstream_gene_variant,,ENST00000417180,;AC016722.2,non_coding_transcript_exon_variant,,ENST00000429761,;MCFD2,intron_variant,,ENST00000470873,;MCFD2,intron_variant,,ENST00000493804,;MCFD2,non_coding_transcript_exon_variant,,ENST00000477791,;MCFD2,non_coding_transcript_exon_variant,,ENST00000479225,;MCFD2,downstream_gene_variant,,ENST00000487121,; A ENSG00000180398 ENST00000409105 Transcript missense_variant 383/4210 203/441 68/146 S/L tCg/tTg rs754442571,COSV60177970 1 NA -1 MCFD2 HGNC HGNC:18451 protein_coding YES CCDS33192.1 ENSP00000386651 Q8NI22.154 UPI000005275E deleterious(0.01) probably_damaging(0.93) 4/5 PDB-ENSP_mappings:2vrg.A,PDB-ENSP_mappings:3a4u.B,PDB-ENSP_mappings:3lcp.C,PDB-ENSP_mappings:3lcp.D,PDB-ENSP_mappings:3wht.B,PDB-ENSP_mappings:3whu.B,PDB-ENSP_mappings:3wnx.B,PDB-ENSP_mappings:4ygb.B,PDB-ENSP_mappings:4ygb.D,PDB-ENSP_mappings:4ygc.B,PDB-ENSP_mappings:4ygc.D,PDB-ENSP_mappings:4ygc.F,PDB-ENSP_mappings:4ygc.H,PDB-ENSP_mappings:4ygd.B,PDB-ENSP_mappings:4ygd.D,PDB-ENSP_mappings:4ygd.F,PDB-ENSP_mappings:4ygd.H,PDB-ENSP_mappings:4yge.B,PDB-ENSP_mappings:4yge.D,PDB-ENSP_mappings:4yge.F,PROSITE_profiles:PS50222,PANTHER:PTHR23104,PANTHER:PTHR23104:SF10,Superfamily:SSF47473 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE NA SNV 5 NA 0,1 NA 1 . CGA . 2029.6 7.953e-06 NA NA NA NA NA 1.758e-05 NA NA 46907916 MSH2 4436 . GRCh38 chr2 47414421 47414430 + Splice_Region DEL AAAAAAAAAA AAAAAAAAAA - rs11309117 NA HCI-EC-23 NORMAL AAAAAAAAAA AAAAAAAAAA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.942+3_942+12del ENST00000233146 NA NA NA NA NA NA MSH2,splice_region_variant,,ENST00000233146,NM_000251.3;MSH2,splice_region_variant,,ENST00000406134,;MSH2,splice_region_variant,,ENST00000543555,NM_001258281.1;MSH2,splice_region_variant,,ENST00000645506,;MSH2,splice_region_variant,,ENST00000644092,;MSH2,splice_region_variant,,ENST00000645339,;MSH2,splice_region_variant,,ENST00000646415,; - ENSG00000095002 ENST00000233146 Transcript splice_region_variant,intron_variant rs11309117 1 NA 1 MSH2 HGNC HGNC:7325 protein_coding YES CCDS1834.1 ENSP00000233146 P43246.227 UPI00000405F6 NM_000251.3 5/15 NA NA NA NA NA NA NA NA NA uncertain_significance,benign,likely_benign NA NA NA NA LOW 1 sequence_alteration 1 NA 1 NA 1 . GTAAAAAAAAAAA . 530.1 NA NA NA NA NA NA NA NA NA 47414420 MSH6 2956 . GRCh38 chr2 47803500 47803501 + Frame_Shift_Ins INS - - C rs267608078 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3261dup p.Phe1088LeufsTer5 p.F1088Lfs*5 ENST00000234420 5/10 NA NA NA NA NA NA MSH6,frameshift_variant,p.Phe989LeufsTer5,ENST00000652107,;MSH6,frameshift_variant,p.Phe56LeufsTer5,ENST00000622629,;MSH6,frameshift_variant,p.Phe1088LeufsTer5,ENST00000234420,NM_000179.3;MSH6,frameshift_variant,p.Phe786LeufsTer5,ENST00000614496,NM_001281493.1;MSH6,frameshift_variant,p.Phe786LeufsTer5,ENST00000538136,NM_001281494.1;MSH6,frameshift_variant,p.Phe989LeufsTer5,ENST00000673637,;MSH6,frameshift_variant,p.Phe958LeufsTer5,ENST00000540021,NM_001281492.1;FBXO11,intron_variant,,ENST00000405808,;FBXO11,downstream_gene_variant,,ENST00000402508,NM_001374325.1,NM_025133.4;FBXO11,downstream_gene_variant,,ENST00000403359,NM_001190274.2;MSH6,downstream_gene_variant,,ENST00000411819,;MSH6,downstream_gene_variant,,ENST00000455383,;MSH6,downstream_gene_variant,,ENST00000616033,;MSH6,downstream_gene_variant,,ENST00000673922,;MSH6,3_prime_UTR_variant,,ENST00000445503,;FBXO11,intron_variant,,ENST00000434234,;MSH6,downstream_gene_variant,,ENST00000456246,;FBXO11,downstream_gene_variant,,ENST00000465204,; C ENSG00000116062 ENST00000234420 Transcript frameshift_variant 3342-3343/4265 3253-3254/4083 1085/1360 T/TX acc/aCcc rs267608078 1 NA 1 MSH6 HGNC HGNC:7329 protein_coding YES CCDS1836.1 ENSP00000234420 P52701.231 UPI00000405F8 NM_000179.3 5/10 PDB-ENSP_mappings:2o8b.B,PDB-ENSP_mappings:2o8c.B,PDB-ENSP_mappings:2o8d.B,PDB-ENSP_mappings:2o8e.B,PDB-ENSP_mappings:2o8f.B,Superfamily:SSF52540,SMART:SM00533,Gene3D:3.40.50.300,PIRSF:PIRSF037677,PANTHER:PTHR11361,PANTHER:PTHR11361:SF34 NA NA NA NA NA NA NA 0.005157 0.001575 pathogenic 25741868 NA NA NA NA HIGH 1 insertion 1 8 1 NA 1 . TAC . 3278.64 6.406e-05 0.000124 2.902e-05 NA NA 9.264e-05 7.103e-05 0.0003277 3.277e-05 47803500 SPTBN1 6711 . GRCh38 chr2 54629649 54629649 + Silent SNP C C A NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2515C>A p.Arg839= p.R839= ENST00000615901 14/38 NA NA NA NA NA NA SPTBN1,synonymous_variant,p.Arg839=,ENST00000615901,;SPTBN1,synonymous_variant,p.Arg839=,ENST00000356805,NM_003128.3;SPTBN1,synonymous_variant,p.Arg826=,ENST00000333896,NM_178313.2;SPTBN1,downstream_gene_variant,,ENST00000389980,; A ENSG00000115306 ENST00000615901 Transcript synonymous_variant 2764/10226 2515/7101 839/2366 R Cgg/Agg COSV61686578 1 NA 1 SPTBN1 HGNC HGNC:11275 protein_coding YES ENSP00000479037 A0A087WUZ3.52 UPI0000D611A2 14/38 Gene3D:1.20.58.60,Pfam:PF00435,PIRSF:PIRSF002297,PANTHER:PTHR11915,PANTHER:PTHR11915:SF226,SMART:SM00150,Superfamily:SSF46966,Superfamily:SSF46966,CDD:cd00176 NA NA NA NA NA NA NA NA NA 1 NA NA NA NA LOW 1 SNV 5 NA 1 NA 1 . GCG . 4544.6 NA NA NA NA NA NA NA NA NA 54629649 REL 5966 . GRCh38 chr2 60918601 60918601 + Frame_Shift_Del DEL A A - novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.852del p.Asp285IlefsTer24 p.D285Ifs*24 ENST00000295025 7/11 NA NA NA NA NA NA REL,frameshift_variant,p.Asp285IlefsTer24,ENST00000295025,NM_002908.4;REL,frameshift_variant,p.Asp285IlefsTer57,ENST00000394479,NM_001291746.2; - ENSG00000162924 ENST00000295025 Transcript frameshift_variant 1168/11255 848/1860 283/619 E/X gAa/ga 1 NA 1 REL HGNC HGNC:9954 protein_coding YES CCDS1864.1 ENSP00000295025 Q04864.190 UPI000013367B NM_002908.4 7/11 Prints:PR00057,PANTHER:PTHR24169,PANTHER:PTHR24169:SF4,Superfamily:SSF81296,Gene3D:2.60.40.10 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 4 NA 1 . TGAA . 1240.6 NA NA NA NA NA NA NA NA NA 60918600 UGP2 7360 . GRCh38 chr2 63886432 63886432 + Nonsense_Mutation SNP C C A novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.992C>A p.Ser331Ter p.S331* ENST00000445915 7/10 NA NA NA NA NA NA UGP2,stop_gained,p.Ser322Ter,ENST00000337130,NM_006759.4;UGP2,stop_gained,p.Ser311Ter,ENST00000394417,NM_001377526.1,NM_001377528.1,NM_001001521.2,NM_001377527.1;UGP2,stop_gained,p.Ser311Ter,ENST00000467648,NM_001377529.1,NM_001377525.1,NM_001377524.1;UGP2,stop_gained,p.Ser311Ter,ENST00000613823,;UGP2,stop_gained,p.Ser331Ter,ENST00000445915,;UGP2,stop_gained,p.Ser274Ter,ENST00000677841,;UGP2,downstream_gene_variant,,ENST00000472047,;UGP2,downstream_gene_variant,,ENST00000475462,;UGP2,downstream_gene_variant,,ENST00000482668,;UGP2,downstream_gene_variant,,ENST00000488245,;UGP2,downstream_gene_variant,,ENST00000491621,;UGP2,downstream_gene_variant,,ENST00000497883,;AC114748.1,upstream_gene_variant,,ENST00000515966,;UGP2,non_coding_transcript_exon_variant,,ENST00000487469,;UGP2,downstream_gene_variant,,ENST00000495020,;UGP2,3_prime_UTR_variant,,ENST00000676780,;UGP2,3_prime_UTR_variant,,ENST00000678974,;UGP2,3_prime_UTR_variant,,ENST00000678951,;UGP2,3_prime_UTR_variant,,ENST00000679256,;UGP2,3_prime_UTR_variant,,ENST00000678298,;UGP2,non_coding_transcript_exon_variant,,ENST00000475550,;UGP2,intron_variant,,ENST00000676870,;UGP2,downstream_gene_variant,,ENST00000466642,;UGP2,downstream_gene_variant,,ENST00000467400,;UGP2,downstream_gene_variant,,ENST00000467999,;UGP2,downstream_gene_variant,,ENST00000483108,;UGP2,downstream_gene_variant,,ENST00000483461,;UGP2,downstream_gene_variant,,ENST00000487042,;UGP2,downstream_gene_variant,,ENST00000493222,;UGP2,downstream_gene_variant,,ENST00000494536,;UGP2,downstream_gene_variant,,ENST00000496334,;UGP2,downstream_gene_variant,,ENST00000497510,; A ENSG00000169764 ENST00000445915 Transcript stop_gained 1059/1955 992/1554 331/517 S/* tCa/tAa 1 NA 1 UGP2 HGNC HGNC:12527 protein_coding YES ENSP00000411803 E7EUC7.79 UPI0001AE76C3 7/10 CDD:cd00897,PANTHER:PTHR43511:SF4,PANTHER:PTHR43511,Gene3D:3.90.550.10,Pfam:PF01704,PIRSF:PIRSF000806,Superfamily:SSF53448 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 SNV 2 NA NA 1 . TCA . 1190.6 NA NA NA NA NA NA NA NA NA 63886432 ACTR2 10097 . GRCh38 chr2 65261374 65261374 + Missense_Mutation SNP C C A novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.878C>A p.Ala293Glu p.A293E ENST00000377982 8/10 NA NA NA NA NA NA ACTR2,missense_variant,p.Ala288Glu,ENST00000260641,NM_005722.4;ACTR2,missense_variant,p.Ala293Glu,ENST00000377982,NM_001005386.2;ACTR2,missense_variant,p.Ala233Glu,ENST00000542850,;,regulatory_region_variant,,ENSR00001032441,; A ENSG00000138071 ENST00000377982 Transcript missense_variant 951/2685 878/1200 293/399 A/E gCa/gAa 1 NA 1 ACTR2 HGNC HGNC:169 protein_coding YES CCDS46307.1 ENSP00000367220 P61160.161 UPI0000445E06 NM_001005386.2 tolerated(0.29) benign(0.317) 8/10 PANTHER:PTHR11937,PANTHER:PTHR11937:SF149,Pfam:PF00022,Gene3D:3.30.420.40,Gene3D:3.30.420.40,SMART:SM00268,Superfamily:SSF53067 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . GCA . 2728.6 NA NA NA NA NA NA NA NA NA 65261374 MEIS1 4211 . GRCh38 chr2 66571335 66571335 + Frame_Shift_Del DEL C C - rs762712444 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1204del p.His402IlefsTer24 p.H402Ifs*24 ENST00000398506 11/11 NA NA NA NA NA NA MEIS1,frameshift_variant,p.His402IlefsTer24,ENST00000398506,;MEIS1,3_prime_UTR_variant,,ENST00000488550,;MEIS1,3_prime_UTR_variant,,ENST00000272369,NM_002398.3;MEIS1,3_prime_UTR_variant,,ENST00000495021,;MEIS1,downstream_gene_variant,,ENST00000560281,;LINC01798,upstream_gene_variant,,ENST00000433396,;MEIS1,non_coding_transcript_exon_variant,,ENST00000409517,;MEIS1,downstream_gene_variant,,ENST00000450027,;MEIS1,downstream_gene_variant,,ENST00000475239,;MEIS1,downstream_gene_variant,,ENST00000542964,;MEIS1,downstream_gene_variant,,ENST00000606455,; - ENSG00000143995 ENST00000398506 Transcript frameshift_variant 1536/3530 1198/1392 400/463 P/X Ccc/cc rs762712444 1 NA 1 MEIS1 HGNC HGNC:7000 protein_coding YES ENSP00000381518 O00470.166 UPI00005BDA98 11/11 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 5 6 NA NA . TGCC . 4643.6 2.294e-05 NA NA NA 0.0001279 NA 3.144e-05 NA NA 66571334 AAK1 22848 . GRCh38 chr2 69514633 69514633 + Frame_Shift_Del DEL C C - NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1614del p.Gln538HisfsTer19 p.Q538Hfs*19 ENST00000606389 12/17 NA NA NA NA NA NA AAK1,frameshift_variant,p.Gln538HisfsTer19,ENST00000409085,NM_014911.5,NM_001371575.1;AAK1,frameshift_variant,p.Gln538HisfsTer19,ENST00000606389,;AAK1,frameshift_variant,p.Gln538HisfsTer19,ENST00000406297,;AAK1,frameshift_variant,p.Gln538HisfsTer19,ENST00000409068,NM_001371577.1;RN7SL604P,upstream_gene_variant,,ENST00000492589,;,regulatory_region_variant,,ENSR00001032866,; - ENSG00000115977 ENST00000606389 Transcript frameshift_variant 1614/10920 1614/3492 538/1163 Q/X caG/ca COSV68641892 1 NA -1 AAK1 HGNC HGNC:19679 protein_coding YES ENSP00000485350 A0A096LP25.39 12/17 Low_complexity_(Seg):seg,PANTHER:PTHR22967:SF96,PANTHER:PTHR22967 NA NA NA NA NA NA NA NA NA 1 NA NA NA NA HIGH 1 deletion 5 NA 1 NA NA . TGCT . 2684.6 NA NA NA NA NA NA NA NA NA 69514632 AAK1 22848 . GRCh38 chr2 69514635 69514636 + Frame_Shift_Del DEL GC GC - novel NA HCI-EC-23 NORMAL GC GC NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1611_1612del p.Gln538AlafsTer100 p.Q538Afs*100 ENST00000606389 12/17 NA NA NA NA NA NA AAK1,frameshift_variant,p.Gln538AlafsTer100,ENST00000409085,NM_014911.5,NM_001371575.1;AAK1,frameshift_variant,p.Gln538AlafsTer100,ENST00000606389,;AAK1,frameshift_variant,p.Gln538AlafsTer100,ENST00000406297,;AAK1,frameshift_variant,p.Gln538AlafsTer100,ENST00000409068,NM_001371577.1;RN7SL604P,upstream_gene_variant,,ENST00000492589,;,regulatory_region_variant,,ENSR00001032866,; - ENSG00000115977 ENST00000606389 Transcript frameshift_variant 1611-1612/10920 1611-1612/3492 537-538/1163 QQ/QX caGCag/caag 1 NA -1 AAK1 HGNC HGNC:19679 protein_coding YES ENSP00000485350 A0A096LP25.39 12/17 Low_complexity_(Seg):seg,PANTHER:PTHR22967:SF96,PANTHER:PTHR22967 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 5 NA NA NA . CTGCT . 2684.6 NA NA NA NA NA NA NA NA NA 69514634 PCYOX1 51449 . GRCh38 chr2 70258238 70258238 + Missense_Mutation SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.74C>T p.Pro25Leu p.P25L ENST00000433351 1/6 NA NA NA NA NA NA PCYOX1,missense_variant,p.Pro25Leu,ENST00000433351,NM_016297.4;PCYOX1,missense_variant,p.Pro25Leu,ENST00000264441,;PCYOX1,intron_variant,,ENST00000414812,;PCYOX1,intron_variant,,ENST00000422380,;PCYOX1,upstream_gene_variant,,ENST00000451279,;,regulatory_region_variant,,ENSR00000118677,;RPL39P15,upstream_gene_variant,,ENST00000446011,;,TF_binding_site_variant,,ENSM00268246597,;,TF_binding_site_variant,,ENSM00199081616,;,TF_binding_site_variant,,ENSM00198417363,;,TF_binding_site_variant,,ENSM00207666525,;,TF_binding_site_variant,,ENSM00207595416,;,TF_binding_site_variant,,ENSM00205698152,;,TF_binding_site_variant,,ENSM00205595310,;,TF_binding_site_variant,,ENSM00267238951,; T ENSG00000116005 ENST00000433351 Transcript missense_variant 102/5339 74/1518 25/505 P/L cCc/cTc 1 NA 1 PCYOX1 HGNC HGNC:20588 protein_coding YES CCDS1902.1 ENSP00000387654 Q9UHG3.177 UPI0000048F25 NM_016297.4 tolerated(0.56) benign(0.003) 1/6 Cleavage_site_(Signalp):SignalP-noTM,PANTHER:PTHR15944,PANTHER:PTHR15944:SF3,PIRSF:PIRSF036292 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CCC . 1748.6 NA NA NA NA NA NA NA NA NA 70258238 FAM136A 84908 . GRCh38 chr2 70297345 70297345 + Missense_Mutation SNP G G C rs770883166 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.682C>G p.Leu228Val p.L228V ENST00000430566 3/3 NA NA NA NA NA NA FAM136A,missense_variant,p.Leu228Val,ENST00000430566,NM_001329753.2,NM_001329752.2;FAM136A,missense_variant,p.Leu121Val,ENST00000037869,NM_032822.3,NM_001329758.2,NM_001329757.2,NM_001329755.2;SNRPG,upstream_gene_variant,,ENST00000272348,NM_001317171.1,NM_001317166.1,NM_003096.4;SNRPG,upstream_gene_variant,,ENST00000413456,NM_001317167.1;SNRPG,upstream_gene_variant,,ENST00000438261,NM_001317169.1;FAM136A,downstream_gene_variant,,ENST00000438759,;SNRPG,upstream_gene_variant,,ENST00000449935,;SNRPG,upstream_gene_variant,,ENST00000454893,NM_001317165.1;SNRPG,upstream_gene_variant,,ENST00000482975,NM_001317168.1;AC022201.2,upstream_gene_variant,,ENST00000445084,;SNRPG,upstream_gene_variant,,ENST00000429728,;FAM136A,3_prime_UTR_variant,,ENST00000450256,;FAM136A,non_coding_transcript_exon_variant,,ENST00000460307,;SNRPG,upstream_gene_variant,,ENST00000480370,;SNRPG,upstream_gene_variant,,ENST00000488400,;FAM136A,downstream_gene_variant,,ENST00000498665,; C ENSG00000035141 ENST00000430566 Transcript missense_variant 738/2107 682/738 228/245 L/V Ctc/Gtc rs770883166 1 NA -1 FAM136A HGNC HGNC:25911 protein_coding YES CCDS86849.1 ENSP00000397269 E7EQY1.62 UPI000020861B NM_001329753.2,NM_001329752.2 tolerated_low_confidence(0.05) probably_damaging(0.996) 3/3 Pfam:PF05811,PANTHER:PTHR21096,PANTHER:PTHR21096:SF0 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 3 NA NA NA . AGG . 262.6 NA NA NA NA NA NA NA NA NA 70297345 FAM136A 84908 . GRCh38 chr2 70297346 70297346 + Silent SNP G G A rs75143374 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.681C>T p.His227= p.H227= ENST00000430566 3/3 NA NA NA NA NA NA FAM136A,synonymous_variant,p.His227=,ENST00000430566,NM_001329753.2,NM_001329752.2;FAM136A,synonymous_variant,p.His120=,ENST00000037869,NM_032822.3,NM_001329758.2,NM_001329757.2,NM_001329755.2;SNRPG,upstream_gene_variant,,ENST00000272348,NM_001317171.1,NM_001317166.1,NM_003096.4;SNRPG,upstream_gene_variant,,ENST00000413456,NM_001317167.1;SNRPG,upstream_gene_variant,,ENST00000438261,NM_001317169.1;FAM136A,downstream_gene_variant,,ENST00000438759,;SNRPG,upstream_gene_variant,,ENST00000449935,;SNRPG,upstream_gene_variant,,ENST00000454893,NM_001317165.1;SNRPG,upstream_gene_variant,,ENST00000482975,NM_001317168.1;AC022201.2,upstream_gene_variant,,ENST00000445084,;SNRPG,upstream_gene_variant,,ENST00000429728,;FAM136A,3_prime_UTR_variant,,ENST00000450256,;FAM136A,non_coding_transcript_exon_variant,,ENST00000460307,;SNRPG,upstream_gene_variant,,ENST00000480370,;SNRPG,upstream_gene_variant,,ENST00000488400,;FAM136A,downstream_gene_variant,,ENST00000498665,; A ENSG00000035141 ENST00000430566 Transcript synonymous_variant 737/2107 681/738 227/245 H caC/caT rs75143374 1 NA -1 FAM136A HGNC HGNC:25911 protein_coding YES CCDS86849.1 ENSP00000397269 E7EQY1.62 UPI000020861B NM_001329753.2,NM_001329752.2 3/3 Pfam:PF05811,PANTHER:PTHR21096,PANTHER:PTHR21096:SF0 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 3 NA NA NA . GGT . 262.6 NA NA NA NA NA NA NA NA NA 70297346 FAM136A 84908 . GRCh38 chr2 70297376 70297377 + Frame_Shift_Ins INS - - CAGC rs753927903 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.650_651insGCTG p.Cys217TrpfsTer9 p.C217Wfs*9 ENST00000430566 3/3 NA NA NA NA NA NA FAM136A,frameshift_variant,p.Cys217TrpfsTer9,ENST00000430566,NM_001329753.2,NM_001329752.2;FAM136A,frameshift_variant,p.Cys110TrpfsTer9,ENST00000037869,NM_032822.3,NM_001329758.2,NM_001329757.2,NM_001329755.2;SNRPG,upstream_gene_variant,,ENST00000272348,NM_001317171.1,NM_001317166.1,NM_003096.4;SNRPG,upstream_gene_variant,,ENST00000413456,NM_001317167.1;SNRPG,upstream_gene_variant,,ENST00000438261,NM_001317169.1;FAM136A,downstream_gene_variant,,ENST00000438759,;SNRPG,upstream_gene_variant,,ENST00000449935,;SNRPG,upstream_gene_variant,,ENST00000454893,NM_001317165.1;SNRPG,upstream_gene_variant,,ENST00000482975,NM_001317168.1;AC022201.2,upstream_gene_variant,,ENST00000445084,;SNRPG,upstream_gene_variant,,ENST00000429728,;FAM136A,3_prime_UTR_variant,,ENST00000450256,;FAM136A,non_coding_transcript_exon_variant,,ENST00000460307,;SNRPG,upstream_gene_variant,,ENST00000480370,;SNRPG,upstream_gene_variant,,ENST00000488400,;FAM136A,downstream_gene_variant,,ENST00000498665,; CAGC ENSG00000035141 ENST00000430566 Transcript frameshift_variant 706-707/2107 650-651/738 217/245 C/WLX tgt/tgGCTGt rs753927903 1 NA -1 FAM136A HGNC HGNC:25911 protein_coding YES CCDS86849.1 ENSP00000397269 E7EQY1.62 UPI000020861B NM_001329753.2,NM_001329752.2 3/3 Pfam:PF05811,PANTHER:PTHR21096,PANTHER:PTHR21096:SF0 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 insertion 3 NA NA NA . CAC . 852.64 NA NA NA NA NA NA NA NA NA 70297376 FAM136A 84908 . GRCh38 chr2 70297380 70297383 + Frame_Shift_Del DEL CTGT CTGT - rs761817680 NA HCI-EC-23 NORMAL CTGT CTGT NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.644_647del p.Asp215ValfsTer3 p.D215Vfs*3 ENST00000430566 3/3 NA NA NA NA NA NA FAM136A,frameshift_variant,p.Asp215ValfsTer3,ENST00000430566,NM_001329753.2,NM_001329752.2;FAM136A,frameshift_variant,p.Asp108ValfsTer3,ENST00000037869,NM_032822.3,NM_001329758.2,NM_001329757.2,NM_001329755.2;SNRPG,upstream_gene_variant,,ENST00000272348,NM_001317171.1,NM_001317166.1,NM_003096.4;SNRPG,upstream_gene_variant,,ENST00000413456,NM_001317167.1;SNRPG,upstream_gene_variant,,ENST00000438261,NM_001317169.1;FAM136A,downstream_gene_variant,,ENST00000438759,;SNRPG,upstream_gene_variant,,ENST00000449935,;SNRPG,upstream_gene_variant,,ENST00000454893,NM_001317165.1;SNRPG,upstream_gene_variant,,ENST00000482975,NM_001317168.1;AC022201.2,upstream_gene_variant,,ENST00000445084,;SNRPG,upstream_gene_variant,,ENST00000429728,;FAM136A,3_prime_UTR_variant,,ENST00000450256,;FAM136A,non_coding_transcript_exon_variant,,ENST00000460307,;SNRPG,upstream_gene_variant,,ENST00000480370,;SNRPG,upstream_gene_variant,,ENST00000488400,;FAM136A,downstream_gene_variant,,ENST00000498665,; - ENSG00000035141 ENST00000430566 Transcript frameshift_variant 700-703/2107 644-647/738 215-216/245 DS/X gACAGt/gt rs761817680 1 NA -1 FAM136A HGNC HGNC:25911 protein_coding YES CCDS86849.1 ENSP00000397269 E7EQY1.62 UPI000020861B NM_001329753.2,NM_001329752.2 3/3 Pfam:PF05811,PANTHER:PTHR21096,PANTHER:PTHR21096:SF0 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 3 NA NA NA . AACTGTC . 813.6 8.003e-06 NA NA NA NA NA 1.77e-05 NA NA 70297379 DYSF 8291 . GRCh38 chr2 71526294 71526294 + Silent SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1224G>A p.Leu408= p.L408= ENST00000410020 13/56 NA NA NA NA NA NA DYSF,synonymous_variant,p.Leu376=,ENST00000258104,NM_003494.4,NM_001130976.2;DYSF,synonymous_variant,p.Leu407=,ENST00000409582,NM_001130981.2;DYSF,synonymous_variant,p.Leu408=,ENST00000410020,NM_001130987.2;DYSF,synonymous_variant,p.Leu407=,ENST00000413539,NM_001130979.2;DYSF,synonymous_variant,p.Leu376=,ENST00000429174,NM_001130978.2,NM_001130977.2;DYSF,synonymous_variant,p.Leu407=,ENST00000409762,NM_001130980.2;DYSF,synonymous_variant,p.Leu408=,ENST00000409651,NM_001130982.2;DYSF,synonymous_variant,p.Leu377=,ENST00000409366,NM_001130983.2;DYSF,synonymous_variant,p.Leu408=,ENST00000410041,NM_001130985.2;DYSF,synonymous_variant,p.Leu377=,ENST00000409744,NM_001130984.2;DYSF,synonymous_variant,p.Leu377=,ENST00000394120,NM_001130455.2,NM_001130986.2; A ENSG00000135636 ENST00000410020 Transcript synonymous_variant 1368/6775 1224/6360 408/2119 L ctG/ctA 1 NA 1 DYSF HGNC HGNC:3097 protein_coding YES CCDS46328.1 ENSP00000386881 O75923.188 UPI000171F710 NM_001130987.2 13/56 PANTHER:PTHR12546,PANTHER:PTHR12546:SF44,Superfamily:SSF49562 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . TGC . 3229.6 NA NA NA NA NA NA NA NA NA 71526294 EGR4 1961 . GRCh38 chr2 73292688 73292688 + Frame_Shift_Del DEL G G - rs1240039658 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.539del p.Pro180LeufsTer33 p.P180Lfs*33 ENST00000545030 2/2 NA NA NA NA NA NA EGR4,frameshift_variant,p.Pro180LeufsTer33,ENST00000545030,;EGR4,frameshift_variant,p.Pro77LeufsTer33,ENST00000436467,NM_001965.4; - ENSG00000135625 ENST00000545030 Transcript frameshift_variant 614/2372 539/1770 180/589 P/X cCt/ct rs1240039658 1 NA -1 EGR4 HGNC HGNC:3241 protein_coding YES CCDS1925.2 ENSP00000445626 Q05215.172 UPI0000EE25D4 2/2 PANTHER:PTHR23235,PANTHER:PTHR23235:SF58 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 NA NA NA . GAGG . 5264.6 1.116e-05 7.411e-05 NA NA NA NA 1.173e-05 NA NA 73292687 ALMS1 7840 . GRCh38 chr2 73448098 73448100 + In_Frame_Del DEL CTC CTC - rs34628045 NA HCI-EC-23 NORMAL CTC CTC NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1574_1576del p.Pro525del p.P525del ENST00000613296 8/23 NA NA NA NA NA NA ALMS1,inframe_deletion,p.Pro525del,ENST00000613296,NM_015120.4,NM_001378454.1;ALMS1,inframe_deletion,p.Pro483del,ENST00000484298,;ALMS1,inframe_deletion,p.Pro525del,ENST00000614410,;ALMS1,upstream_gene_variant,,ENST00000423048,;ALMS1,upstream_gene_variant,,ENST00000620466,; - ENSG00000116127 ENST00000613296 Transcript inframe_deletion 1604-1606/12844 1571-1573/12507 524-525/4168 SP/S tCTCct/tct rs34628045 1 NA 1 ALMS1 HGNC HGNC:428 protein_coding YES CCDS42697.1 ENSP00000482968 Q8TCU4.157 UPI00046209B2 NM_015120.4,NM_001378454.1 8/23 NA NA NA NA NA NA NA NA NA 27182706 NA NA NA NA MODERATE 1 deletion 1 3 1 NA 1 . TTCTCC . 3624.6 NA NA NA NA NA NA NA NA NA 73448097 TET3 200424 . GRCh38 chr2 74047561 74047561 + Missense_Mutation SNP C C G novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1644C>G p.Phe548Leu p.F548L ENST00000409262 3/11 NA NA NA NA NA NA TET3,missense_variant,p.Phe548Leu,ENST00000409262,NM_001287491.2;TET3,missense_variant,p.Phe455Leu,ENST00000305799,NM_001366022.1;TET3,non_coding_transcript_exon_variant,,ENST00000475405,; G ENSG00000187605 ENST00000409262 Transcript missense_variant 1644/11388 1644/5388 548/1795 F/L ttC/ttG 1 NA 1 TET3 HGNC HGNC:28313 protein_coding YES CCDS46339.2 ENSP00000386869 O43151.142 UPI0002A87FCB NM_001287491.2 tolerated(0.65) benign(0.001) 3/11 PANTHER:PTHR23358,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . TCC . 1731.6 NA NA NA NA NA NA NA NA NA 74047561 LOXL3 84695 . GRCh38 chr2 74536797 74536797 + Frame_Shift_Del DEL C C - rs746133895 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.824del p.Gly275AlafsTer5 p.G275Afs*5 ENST00000264094 5/14 NA NA NA NA NA NA LOXL3,frameshift_variant,p.Gly275AlafsTer5,ENST00000264094,NM_032603.5;LOXL3,frameshift_variant,p.Gly275AlafsTer5,ENST00000409549,;LOXL3,frameshift_variant,p.Gly275AlafsTer5,ENST00000409249,;LOXL3,frameshift_variant,p.Gly275AlafsTer5,ENST00000413469,;LOXL3,intron_variant,,ENST00000393937,NM_001289164.3,NM_001289165.2;LOXL3,intron_variant,,ENST00000409986,;LOXL3,intron_variant,,ENST00000420535,;HTRA2,downstream_gene_variant,,ENST00000258080,NM_013247.5;HTRA2,downstream_gene_variant,,ENST00000352222,NM_145074.2;HTRA2,downstream_gene_variant,,ENST00000437202,NM_001321727.1,NM_001321728.1;LOXL3,intron_variant,,ENST00000481835,;HTRA2,downstream_gene_variant,,ENST00000462909,;HTRA2,downstream_gene_variant,,ENST00000467961,;LOXL3,downstream_gene_variant,,ENST00000484369,;HTRA2,downstream_gene_variant,,ENST00000484881,;LOXL3,intron_variant,,ENST00000470907,;HTRA2,downstream_gene_variant,,ENST00000482331,;HTRA2,downstream_gene_variant,,ENST00000484352,;,regulatory_region_variant,,ENSR00000610289,; - ENSG00000115318 ENST00000264094 Transcript frameshift_variant 903/3689 824/2262 275/753 G/X gGc/gc rs746133895 1 NA -1 LOXL3 HGNC HGNC:13869 protein_coding YES CCDS1953.1 ENSP00000264094 P58215.168 UPI0000044959 NM_032603.5 5/14 PROSITE_profiles:PS50287,PANTHER:PTHR45817:SF2,PANTHER:PTHR45817,Pfam:PF00530,Gene3D:3.10.250.10,SMART:SM00202,Superfamily:SSF56487 NA NA NA NA NA NA NA 0.004923 0.00315 NA NA NA NA HIGH 1 deletion 1 NA NA 1 . GGCC . 7220.6 4.007e-06 NA NA NA NA NA 8.89e-06 NA NA 74536796 REG3A 5068 . GRCh38 chr2 79158418 79158418 + Missense_Mutation SNP T T C NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.241A>G p.Ser81Gly p.S81G ENST00000393878 3/5 NA NA NA NA NA NA REG3A,missense_variant,p.Ser81Gly,ENST00000393878,NM_138938.2;REG3A,missense_variant,p.Ser81Gly,ENST00000305165,NM_002580.3;REG3A,missense_variant,p.Ser81Gly,ENST00000409839,NM_138937.3;REG3A,downstream_gene_variant,,ENST00000490901,;AC011754.1,non_coding_transcript_exon_variant,,ENST00000415201,;REG3A,downstream_gene_variant,,ENST00000673909,;REG3A,downstream_gene_variant,,ENST00000464746,; C ENSG00000172016 ENST00000393878 Transcript missense_variant 589/1095 241/528 81/175 S/G Agt/Ggt COSV99043583 1 NA -1 REG3A HGNC HGNC:8601 protein_coding YES CCDS1965.1 ENSP00000377456 Q06141.171 Q53S56.130 UPI0000001C5B NM_138938.2 deleterious(0.02) benign(0.308) 3/5 PDB-ENSP_mappings:1uv0.A,PDB-ENSP_mappings:2go0.A,PDB-ENSP_mappings:4mth.A,CDD:cd03594,Pfam:PF00059,Gene3D:3.10.100.10,SMART:SM00034,Superfamily:SSF56436,PROSITE_profiles:PS50041,PANTHER:PTHR22803,PANTHER:PTHR22803:SF123,Prints:PR01504 NA NA NA NA NA NA NA NA NA 1 NA NA NA NA MODERATE 1 SNV 1 NA 1 NA NA . CTG . 3361.6 NA NA NA NA NA NA NA NA NA 79158418 FOXI3 0 . GRCh38 chr2 88448366 88448366 + Silent SNP C C G rs769469825 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1104G>C p.Leu368= p.L368= ENST00000428390 2/2 NA NA NA NA NA NA FOXI3,synonymous_variant,p.Leu368=,ENST00000428390,NM_001135649.3;,regulatory_region_variant,,ENSR00000612499,; G ENSG00000214336 ENST00000428390 Transcript synonymous_variant 1262/2841 1104/1263 368/420 L ctG/ctC rs769469825 1 NA -1 FOXI3 HGNC HGNC:35123 protein_coding YES CCDS77433.1 ENSP00000478384 A8MTJ6.94 UPI0001812296 NM_001135649.3 2/2 PANTHER:PTHR11829,PANTHER:PTHR11829:SF137,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 3 NA NA NA . TCA . 2406.6 1.946e-05 NA NA NA NA NA 5.023e-05 NA NA 88448366 IGKJ2 0 . GRCh38 chr2 88861557 88861557 + Missense_Mutation SNP C C G rs113458930 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.8G>C p.Ser3Thr p.S3T ENST00000390241 1/1 NA NA NA NA NA NA IGKJ2,missense_variant,p.Ser3Thr,ENST00000390241,;IGKC,upstream_gene_variant,,ENST00000390237,;IGKJ5,upstream_gene_variant,,ENST00000390238,;IGKJ4,upstream_gene_variant,,ENST00000390239,;IGKJ3,upstream_gene_variant,,ENST00000390240,;IGKJ1,downstream_gene_variant,,ENST00000390242,;AC244205.1,non_coding_transcript_exon_variant,,ENST00000624935,; G ENSG00000211596 ENST00000390241 Transcript missense_variant 7/39 8/40 3/13 S/T aGt/aCt rs113458930 1 NA -1 IGKJ2 HGNC HGNC:5720 IG_J_gene YES ENSP00000418768 A0A0A0MT85.16 UPI0004620CF3 unknown(0) 1/1 NA 0.8699 0.9251 NA 0.9802 0.9374 0.9284 NA NA NA NA NA NA MODERATE NA SNV NA NA NA NA . ACT . 15784.6 NA NA NA NA NA NA NA NA NA 88861557 IGKJ2 0 . GRCh38 chr2 88861560 88861560 + Missense_Mutation SNP C C T rs113539064 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.5G>A p.Cys2Tyr p.C2Y ENST00000390241 1/1 NA NA NA NA NA NA IGKJ2,missense_variant,p.Cys2Tyr,ENST00000390241,;IGKC,upstream_gene_variant,,ENST00000390237,;IGKJ5,upstream_gene_variant,,ENST00000390238,;IGKJ4,upstream_gene_variant,,ENST00000390239,;IGKJ3,upstream_gene_variant,,ENST00000390240,;IGKJ1,downstream_gene_variant,,ENST00000390242,;AC244205.1,non_coding_transcript_exon_variant,,ENST00000624935,; T ENSG00000211596 ENST00000390241 Transcript missense_variant 4/39 5/40 2/13 C/Y tGc/tAc rs113539064 1 NA -1 IGKJ2 HGNC HGNC:5720 IG_J_gene YES ENSP00000418768 A0A0A0MT85.16 UPI0004620CF3 unknown(0) 1/1 NA 0.997 0.9611 NA 1 0.9533 0.9806 NA NA NA NA NA NA MODERATE NA SNV NA NA NA NA . GCA . 15738.6 NA NA NA NA NA NA NA NA NA 88861560 IGKV1-6 0 . GRCh38 chr2 88966502 88966502 + Silent SNP A A T rs577522164 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.111T>A p.Val37= p.V37= ENST00000464162 2/2 NA NA NA NA NA NA IGKV1-6,synonymous_variant,p.Val37=,ENST00000464162,; T ENSG00000239855 ENST00000464162 Transcript synonymous_variant 140/380 111/351 37/117 V gtT/gtA rs577522164 1 NA -1 IGKV1-6 HGNC HGNC:5742 IG_V_gene YES ENSP00000420361 A0A0C4DH72.33 UPI0000113B4D 2/2 NA 0.9985 0.9986 NA 1 1 1 NA NA NA NA NA NA LOW 1 SNV NA NA NA NA . CAA . 28866.03 NA NA NA NA NA NA NA NA NA 88966502 IGKV1-12 0 . GRCh38 chr2 89040287 89040287 + Silent SNP G G A rs1724229 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.288C>T p.Thr96= p.T96= ENST00000480492 2/2 NA NA NA NA NA NA IGKV1-12,synonymous_variant,p.Thr96=,ENST00000480492,;,regulatory_region_variant,,ENSR00000612640,; A ENSG00000243290 ENST00000480492 Transcript synonymous_variant 335/398 288/351 96/117 T acC/acT rs1724229 1 NA -1 IGKV1-12 HGNC HGNC:5730 IG_V_gene YES ENSP00000420576 A0A0C4DH73.36 UPI00001148EB 2/2 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV NA NA NA NA . TGG . 4561.6 NA NA NA NA NA NA NA NA NA 89040287 IGKV1-12 0 . GRCh38 chr2 89040479 89040479 + Silent SNP G G A rs1724230 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.96C>T p.Ser32= p.S32= ENST00000480492 2/2 NA NA NA NA NA NA IGKV1-12,synonymous_variant,p.Ser32=,ENST00000480492,; A ENSG00000243290 ENST00000480492 Transcript synonymous_variant 143/398 96/351 32/117 S tcC/tcT rs1724230 1 NA -1 IGKV1-12 HGNC HGNC:5730 IG_V_gene YES ENSP00000420576 A0A0C4DH73.36 UPI00001148EB 2/2 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV NA NA NA NA . CGG . 4277.6 NA NA NA NA NA NA NA NA NA 89040479 IGKV3-15 0 . GRCh38 chr2 89085291 89085291 + Silent SNP A A G rs2848034 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.231T>C p.Gly77= p.G77= ENST00000390252 2/2 NA NA NA NA NA NA IGKV3-15,synonymous_variant,p.Gly77=,ENST00000390252,; G ENSG00000244437 ENST00000390252 Transcript synonymous_variant 328/442 231/345 77/115 G ggT/ggC rs2848034 1 NA -1 IGKV3-15 HGNC HGNC:5816 IG_V_gene YES ENSP00000374787 P01624.114 UPI0000113B53 2/2 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV NA NA NA NA . TAC . 2386.6 NA NA NA NA NA NA NA NA NA 89085291 IGKV3D-11 0 . GRCh38 chr2 90173209 90173209 + Missense_Mutation SNP A A G rs3929270 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.142A>G p.Ser48Gly p.S48G ENST00000390277 2/2 NA NA NA NA NA NA IGKV3D-11,missense_variant,p.Ser48Gly,ENST00000390277,; G ENSG00000211632 ENST00000390277 Transcript missense_variant 239/444 142/347 48/115 S/G Agt/Ggt rs3929270 1 NA 1 IGKV3D-11 HGNC HGNC:5823 IG_V_gene YES ENSP00000374812 A0A0A0MRZ8.40 UPI00053BD5ED tolerated(0.17) benign(0.026) 2/2 NA 0.2398 0.7565 NA 0.4544 0.6859 0.638 NA NA NA NA NA NA MODERATE 1 SNV NA NA NA NA . GAG . 5330.6 NA NA NA NA NA NA NA NA NA 90173209 FAHD2A 51011 . GRCh38 chr2 95405629 95405629 + Missense_Mutation SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.71C>T p.Ser24Phe p.S24F ENST00000233379 2/8 NA NA NA NA NA NA FAHD2A,missense_variant,p.Ser24Phe,ENST00000233379,NM_016044.3;FAHD2A,missense_variant,p.Ser24Phe,ENST00000447036,;FAHD2A,missense_variant,p.Ser24Phe,ENST00000418606,;FAHD2A,missense_variant,p.Ser24Phe,ENST00000445649,;FAHD2A,non_coding_transcript_exon_variant,,ENST00000463940,;FAHD2A,upstream_gene_variant,,ENST00000470100,; T ENSG00000115042 ENST00000233379 Transcript missense_variant 242/4775 71/945 24/314 S/F tCc/tTc 1 NA 1 FAHD2A HGNC HGNC:24252 protein_coding YES CCDS2014.1 ENSP00000233379 Q96GK7.138 A0A024RE24.3 UPI000006D4CC NM_016044.3 deleterious(0.04) benign(0.075) 2/8 PANTHER:PTHR42796:SF3,PANTHER:PTHR42796 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . TCC . 5335.6 NA NA NA NA NA NA NA NA NA 95405629 ANKRD36C 0 . GRCh38 chr2 95953996 95953996 + Nonsense_Mutation SNP G G T novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1146C>A p.Tyr382Ter p.Y382* ENST00000456556 14/67 NA NA NA NA NA NA ANKRD36C,stop_gained,p.Tyr382Ter,ENST00000456556,NM_001310154.3;ANKRD36C,stop_gained,p.Tyr382Ter,ENST00000528268,; T ENSG00000174501 ENST00000456556 Transcript stop_gained 1231/5428 1146/5337 382/1778 Y/* taC/taA 1 NA -1 ANKRD36C HGNC HGNC:32946 protein_coding YES ENSP00000403302 Q5JPF3.103 UPI00016620F5 NM_001310154.3 14/67 PANTHER:PTHR24147,PANTHER:PTHR24147:SF50 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 SNV 5 NA NA NA . TGT . 129.6 NA NA NA NA NA NA NA NA NA 95953996 ARID5A 10865 . GRCh38 chr2 96551611 96551613 + In_Frame_Del DEL CTT CTT - rs766877562 NA HCI-EC-23 NORMAL CTT CTT NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1088_1090del p.Phe363del p.F363del ENST00000357485 7/7 NA NA NA NA NA NA ARID5A,inframe_deletion,p.Phe295del,ENST00000454558,NM_001319094.2,NM_001319096.2,NM_001319093.2,NM_001319092.1;ARID5A,inframe_deletion,p.Phe363del,ENST00000357485,NM_001319085.2,NM_001319087.2,NM_212481.3;ARID5A,intron_variant,,ENST00000673792,;ARID5A,3_prime_UTR_variant,,ENST00000412735,;ARID5A,non_coding_transcript_exon_variant,,ENST00000497920,;ARID5A,downstream_gene_variant,,ENST00000467498,;ARID5A,downstream_gene_variant,,ENST00000470579,; - ENSG00000196843 ENST00000357485 Transcript inframe_deletion 1158-1160/2181 1083-1085/1785 361-362/594 DF/D gaCTTc/gac rs766877562 1 NA 1 ARID5A HGNC HGNC:17361 protein_coding YES CCDS33251.1 ENSP00000350078 Q03989.147 UPI00001C1DBB NM_001319085.2,NM_001319087.2,NM_212481.3 7/7 PANTHER:PTHR13964:SF25,PANTHER:PTHR13964 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 deletion 1 5 NA NA . GACTTC . 4156.6 1.558e-05 NA NA NA 6.187e-05 NA 2.185e-05 NA NA 96551610 FER1L5 0 . GRCh38 chr2 96689268 96689268 + Missense_Mutation SNP G G A NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2372G>A p.Cys791Tyr p.C791Y ENST00000641731 25/53 NA NA NA NA NA NA FER1L5,missense_variant,p.Cys454Tyr,ENST00000623246,;FER1L5,missense_variant,p.Cys801Tyr,ENST00000623019,;FER1L5,missense_variant,p.Cys806Tyr,ENST00000624922,NM_001293083.2;FER1L5,missense_variant,p.Cys791Tyr,ENST00000641731,;FER1L5,3_prime_UTR_variant,,ENST00000436930,;FER1L5,non_coding_transcript_exon_variant,,ENST00000457909,; A ENSG00000249715 ENST00000641731 Transcript missense_variant 2372/6294 2372/6294 791/2097 C/Y tGc/tAc COSV70068748 1 NA 1 FER1L5 HGNC HGNC:19044 protein_coding YES ENSP00000493251 A0A286YFJ1.15 UPI0001AE771B tolerated(1) benign(0.012) 25/53 PANTHER:PTHR12546,PANTHER:PTHR12546:SF34,SMART:SM00693 NA NA NA NA NA NA NA NA NA 1 NA NA NA NA MODERATE 1 SNV NA NA 1 NA NA . TGC . 4478.6 NA NA NA NA NA NA NA NA NA 96689268 MRPL30 51263 . GRCh38 chr2 99195694 99195694 + Missense_Mutation SNP C C A novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.475C>A p.His159Asn p.H159N ENST00000338148 6/6 NA NA NA NA NA NA MRPL30,missense_variant,p.His159Asn,ENST00000338148,NM_145212.4;MRPL30,downstream_gene_variant,,ENST00000409145,;AC092587.1,downstream_gene_variant,,ENST00000410042,;MRPL30,non_coding_transcript_exon_variant,,ENST00000465432,;MRPL30,downstream_gene_variant,,ENST00000473743,;AC079447.1,missense_variant,p.His189Asn,ENST00000424491,;MRPL30,missense_variant,p.His159Asn,ENST00000409841,; A ENSG00000185414 ENST00000338148 Transcript missense_variant 568/4435 475/486 159/161 H/N Cat/Aat 1 NA 1 MRPL30 HGNC HGNC:14036 protein_coding YES CCDS2041.1 ENSP00000338057 Q8TCC3.150 UPI000007110A NM_145212.4 tolerated(0.1) benign(0.001) 6/6 PDB-ENSP_mappings:3j7y.Z,PDB-ENSP_mappings:3j9m.Z,PDB-ENSP_mappings:5ool.Z,PDB-ENSP_mappings:5oom.Z,PDB-ENSP_mappings:6nu3.Z,PANTHER:PTHR15892 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . ACA . 1370.6 NA NA NA NA NA NA NA NA NA 99195694 EIF5B 9669 . GRCh38 chr2 99390356 99390356 + Silent SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2541C>T p.Ser847= p.S847= ENST00000289371 16/24 NA NA NA NA NA NA EIF5B,synonymous_variant,p.Ser847=,ENST00000289371,NM_015904.4;EIF5B,synonymous_variant,p.Ser847=,ENST00000617677,;EIF5B,non_coding_transcript_exon_variant,,ENST00000470868,;EIF5B,upstream_gene_variant,,ENST00000494190,; T ENSG00000158417 ENST00000289371 Transcript synonymous_variant 2707/5741 2541/3663 847/1220 S agC/agT 1 NA 1 EIF5B HGNC HGNC:30793 protein_coding YES CCDS42721.1 ENSP00000289371 O60841.195 UPI0000207EC7 NM_015904.4 16/24 PANTHER:PTHR43381:SF4,PANTHER:PTHR43381,Gene3D:3.40.50.300,Superfamily:SSF52540 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . GCA . 1423.6 NA NA NA NA NA NA NA NA NA 99390356 LONRF2 164832 . GRCh38 chr2 100321708 100321708 + Missense_Mutation SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.386G>A p.Gly129Glu p.G129E ENST00000393437 1/12 NA NA NA NA NA NA LONRF2,missense_variant,p.Gly129Glu,ENST00000393437,NM_198461.4;,regulatory_region_variant,,ENSR00000120672,; T ENSG00000170500 ENST00000393437 Transcript missense_variant 794/15096 386/2265 129/754 G/E gGg/gAg 1 NA -1 LONRF2 HGNC HGNC:24788 protein_coding YES CCDS2046.2 ENSP00000377086 Q1L5Z9.122 UPI000152B4EF NM_198461.4 tolerated(1) benign(0.042) 1/12 Low_complexity_(Seg):seg,MobiDB_lite:mobidb-lite,PANTHER:PTHR23327,PANTHER:PTHR23327:SF5 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . CCC . 660.6 NA NA NA NA NA NA NA NA NA 100321708 TBC1D8 11138 . GRCh38 chr2 101029593 101029593 + Missense_Mutation SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2120G>A p.Gly707Asp p.G707D ENST00000409318 12/20 NA NA NA NA NA NA TBC1D8,missense_variant,p.Gly707Asp,ENST00000409318,NM_001330348.2;TBC1D8,missense_variant,p.Gly692Asp,ENST00000376840,NM_001102426.2;TBC1D8,non_coding_transcript_exon_variant,,ENST00000481317,;TBC1D8,non_coding_transcript_exon_variant,,ENST00000473937,;TBC1D8,non_coding_transcript_exon_variant,,ENST00000485875,;,regulatory_region_variant,,ENSR00001035204,; T ENSG00000204634 ENST00000409318 Transcript missense_variant 2249/4190 2120/3468 707/1155 G/D gGc/gAc 1 NA -1 TBC1D8 HGNC HGNC:17791 protein_coding YES CCDS82486.1 ENSP00000386856 J3KQ40.60 UPI0001E8F205 NM_001330348.2 deleterious(0) probably_damaging(1) 12/20 PROSITE_profiles:PS50086,PANTHER:PTHR22957,PANTHER:PTHR22957:SF260,Pfam:PF00566,Gene3D:1.10.472.80,SMART:SM00164,Superfamily:SSF47923 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . GCC . 2976.6 NA NA NA NA NA NA NA NA NA 101029593 SLC9A4 389015 . GRCh38 chr2 102508886 102508886 + Frame_Shift_Del DEL A A - novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1447del p.Thr483ProfsTer15 p.T483Pfs*15 ENST00000295269 6/12 NA NA NA NA NA NA SLC9A4,frameshift_variant,p.Thr483ProfsTer15,ENST00000295269,NM_001011552.4;SLC9A4,downstream_gene_variant,,ENST00000492154,;,regulatory_region_variant,,ENSR00001035387,; - ENSG00000180251 ENST00000295269 Transcript frameshift_variant 1975/4215 1441/2397 481/798 K/X Aaa/aa 1 NA 1 SLC9A4 HGNC HGNC:11077 protein_coding YES CCDS33264.1 ENSP00000295269 Q6AI14.131 UPI000047F996 NM_001011552.4 6/12 TIGRFAM:TIGR00840,PANTHER:PTHR10110,PANTHER:PTHR10110:SF103 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 6 NA NA . TTAA . 1295.6 NA NA NA NA NA NA NA NA NA 102508885 SLC9A2 6549 . GRCh38 chr2 102702413 102702413 + Missense_Mutation SNP C C T rs267598817 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1756C>T p.Arg586Cys p.R586C ENST00000233969 9/12 NA NA NA NA NA NA SLC9A2,missense_variant,p.Arg586Cys,ENST00000233969,NM_003048.6;SLC9A2,non_coding_transcript_exon_variant,,ENST00000469286,; T ENSG00000115616 ENST00000233969 Transcript missense_variant 2052/5601 1756/2439 586/812 R/C Cgt/Tgt rs267598817 1 NA 1 SLC9A2 HGNC HGNC:11072 protein_coding YES CCDS2062.1 ENSP00000233969 Q9UBY0.163 UPI000012FD21 NM_003048.6 deleterious(0.01) possibly_damaging(0.528) 9/12 Pfam:PF16644,Prints:PR01086,PANTHER:PTHR10110,PANTHER:PTHR10110:SF89,TIGRFAM:TIGR00840 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . TCG . 811.6 1.278e-05 NA NA NA 5.888e-05 NA 1.821e-05 NA NA 102702413 RGPD3 653489 . GRCh38 chr2 106423468 106423468 + Missense_Mutation SNP G G A rs1273465468 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4481C>T p.Thr1494Ile p.T1494I ENST00000304514 20/23 NA NA NA NA NA NA RGPD3,missense_variant,p.Thr1500Ile,ENST00000409886,NM_001144013.2;RGPD3,missense_variant,p.Thr1494Ile,ENST00000304514,; A ENSG00000153165 ENST00000304514 Transcript missense_variant 4519/5510 4481/5283 1494/1760 T/I aCc/aTc rs1273465468 1 NA -1 RGPD3 HGNC HGNC:32416 protein_coding YES ENSP00000303659 J3KNE0.60 UPI0004E4CCE8 tolerated(0.06) benign(0.013) 20/23 PANTHER:PTHR23138,PANTHER:PTHR23138:SF131 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 2 NA NA 1 . GGT . 63.6 NA NA NA NA NA NA NA NA NA 106423468 GCC2 9648 . GRCh38 chr2 108472013 108472013 + Missense_Mutation SNP A A G rs916608229 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2684A>G p.His895Arg p.H895R ENST00000309863 6/23 NA NA NA NA NA NA GCC2,missense_variant,p.His895Arg,ENST00000309863,NM_181453.4;GCC2,missense_variant,p.His858Arg,ENST00000409896,;GCC2,missense_variant,p.His67Arg,ENST00000462897,;GCC2,missense_variant,p.His57Arg,ENST00000492785,;GCC2,downstream_gene_variant,,ENST00000409821,;GCC2,downstream_gene_variant,,ENST00000478207,;GCC2,downstream_gene_variant,,ENST00000485546,;GCC2,3_prime_UTR_variant,,ENST00000482325,;GCC2,upstream_gene_variant,,ENST00000447558,; G ENSG00000135968 ENST00000309863 Transcript missense_variant 2753/6909 2684/5055 895/1684 H/R cAt/cGt rs916608229 1 NA 1 GCC2 HGNC HGNC:23218 protein_coding YES CCDS33268.1 ENSP00000307939 Q8IWJ2.169 UPI000049DF0C NM_181453.4 tolerated(0.35) benign(0) 6/23 PANTHER:PTHR18902,PANTHER:PTHR18902:SF25 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . CAT . 819.6 2.143e-05 NA NA NA NA NA 4.621e-05 NA NA 108472013 ZC3H6 376940 . GRCh38 chr2 112299931 112299931 + Missense_Mutation SNP A A C rs771337047 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.115A>C p.Lys39Gln p.K39Q ENST00000343936 2/12 NA NA NA NA NA NA ZC3H6,missense_variant,p.Lys39Gln,ENST00000343936,;ZC3H6,missense_variant,p.Lys39Gln,ENST00000409871,NM_198581.3;ZC3H6,non_coding_transcript_exon_variant,,ENST00000476511,; C ENSG00000188177 ENST00000343936 Transcript missense_variant 509/11539 115/3570 39/1189 K/Q Aag/Cag rs771337047 1 NA 1 ZC3H6 HGNC HGNC:24762 protein_coding YES ENSP00000340298 P61129.125 UPI00004215E8 deleterious(0.01) probably_damaging(0.986) 2/12 Coiled-coils_(Ncoils):Coil,PANTHER:PTHR13119,PANTHER:PTHR13119:SF22,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 2 NA NA NA . AAA . 211.6 7.604e-06 NA NA NA NA NA 1.916e-05 NA NA 112299931 ZC3H6 376940 . GRCh38 chr2 112322822 112322824 + In_Frame_Del DEL TGA TGA - novel NA HCI-EC-23 NORMAL TGA TGA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1264_1266del p.Asp422del p.D422del ENST00000343936 9/12 NA NA NA NA NA NA ZC3H6,inframe_deletion,p.Asp422del,ENST00000343936,;ZC3H6,inframe_deletion,p.Asp422del,ENST00000409871,NM_198581.3; - ENSG00000188177 ENST00000343936 Transcript inframe_deletion 1654-1656/11539 1260-1262/3570 420-421/1189 SD/S tcTGAt/tct 1 NA 1 ZC3H6 HGNC HGNC:24762 protein_coding YES ENSP00000340298 P61129.125 UPI00004215E8 9/12 PANTHER:PTHR13119,PANTHER:PTHR13119:SF22 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 deletion 2 4 NA NA . TCTGAT . 1604.6 NA NA NA NA NA NA NA NA NA 112322821 CKAP2L 150468 . GRCh38 chr2 112762567 112762567 + Nonsense_Mutation SNP C C A novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.40G>T p.Glu14Ter p.E14* ENST00000302450 2/9 NA NA NA NA NA NA CKAP2L,stop_gained,p.Glu14Ter,ENST00000302450,NM_001304361.2,NM_152515.5;CKAP2L,splice_region_variant,,ENST00000481732,;CKAP2L,splice_region_variant,,ENST00000497357,;CKAP2L,splice_region_variant,,ENST00000461876,;CKAP2L,stop_gained,p.Glu14Ter,ENST00000435431,;,regulatory_region_variant,,ENSR00000121983,; A ENSG00000169607 ENST00000302450 Transcript stop_gained,splice_region_variant 51/4723 40/2238 14/745 E/* Gag/Tag 1 NA -1 CKAP2L HGNC HGNC:26877 protein_coding YES CCDS2100.1 ENSP00000305204 Q8IYA6.116 UPI0000207D64 NM_001304361.2,NM_152515.5 2/9 PANTHER:PTHR47078 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 SNV 1 NA NA 1 . TCT . 1489.6 NA NA NA NA NA NA NA NA NA 112762567 CLASP1 23332 . GRCh38 chr2 121458952 121458952 + Missense_Mutation SNP T T C rs772245591 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1202A>G p.Asn401Ser p.N401S ENST00000263710 13/40 NA NA NA NA NA NA CLASP1,missense_variant,p.Asn401Ser,ENST00000263710,NM_015282.3;CLASP1,missense_variant,p.Asn401Ser,ENST00000397587,NM_001142273.2;CLASP1,missense_variant,p.Asn401Ser,ENST00000541377,NM_001207051.2,NM_001378005.1;CLASP1,missense_variant,p.Asn401Ser,ENST00000409078,NM_001142274.2,NM_001378003.1;CLASP1,missense_variant,p.Asn401Ser,ENST00000455322,NM_001378004.1;CLASP1,missense_variant,p.Asn182Ser,ENST00000452274,;CLASP1,downstream_gene_variant,,ENST00000418989,;CLASP1,downstream_gene_variant,,ENST00000449975,;CLASP1,non_coding_transcript_exon_variant,,ENST00000430234,;CLASP1,downstream_gene_variant,,ENST00000480007,;CLASP1,downstream_gene_variant,,ENST00000474065,;CLASP1,downstream_gene_variant,,ENST00000491646,; C ENSG00000074054 ENST00000263710 Transcript missense_variant 1592/8092 1202/4617 401/1538 N/S aAt/aGt rs772245591 1 NA -1 CLASP1 HGNC HGNC:17088 protein_coding YES ENSP00000263710 Q7Z460.173 UPI00001A8BFF NM_015282.3 tolerated(0.22) benign(0.01) 13/40 PDB-ENSP_mappings:4k92.A,PDB-ENSP_mappings:4k92.B,PDB-ENSP_mappings:6mq7.A,PDB-ENSP_mappings:6mq7.B,PANTHER:PTHR21567:SF28,PANTHER:PTHR21567,Gene3D:1.25.10.10,Pfam:PF12348,SMART:SM01349,Superfamily:SSF48371,Superfamily:SSF48371 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . ATT . 2657.6 4.033e-06 NA NA NA 5.577e-05 NA NA NA NA 121458952 CNTNAP5 129684 . GRCh38 chr2 124504302 124504302 + Missense_Mutation SNP C C T rs202230009 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1070C>T p.Thr357Ile p.T357I ENST00000431078 8/24 NA NA NA NA NA NA CNTNAP5,missense_variant,p.Thr357Ile,ENST00000431078,NM_001367498.1,NM_130773.4; T ENSG00000155052 ENST00000431078 Transcript missense_variant 1434/5284 1070/3921 357/1306 T/I aCt/aTt rs202230009 1 NA 1 CNTNAP5 HGNC HGNC:18748 protein_coding YES CCDS46401.1 ENSP00000399013 Q8WYK1.128 UPI0000071988 NM_001367498.1,NM_130773.4 deleterious(0.03) probably_damaging(0.997) 8/24 PROSITE_profiles:PS50025,PANTHER:PTHR15036,PANTHER:PTHR15036:SF37,Gene3D:2.60.120.200,Superfamily:SSF49899 2e-04 NA NA NA NA 0.001 NA 0.0002678 0.0001215 NA NA NA NA MODERATE 1 SNV 1 NA NA NA . ACT . 3354.6 6.44e-05 0.0001292 NA NA NA NA 0.0001246 NA NA 124504302 CNTNAP5 129684 . GRCh38 chr2 124527292 124527292 + Silent SNP C C T rs749556691 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1482C>T p.Pro494= p.P494= ENST00000431078 10/24 NA NA NA NA NA NA CNTNAP5,synonymous_variant,p.Pro494=,ENST00000431078,NM_001367498.1,NM_130773.4;,regulatory_region_variant,,ENSR00000619107,; T ENSG00000155052 ENST00000431078 Transcript synonymous_variant 1846/5284 1482/3921 494/1306 P ccC/ccT rs749556691,COSV70490746 1 NA 1 CNTNAP5 HGNC HGNC:18748 protein_coding YES CCDS46401.1 ENSP00000399013 Q8WYK1.128 UPI0000071988 NM_001367498.1,NM_130773.4 10/24 PROSITE_profiles:PS50025,CDD:cd00110,PANTHER:PTHR15036,PANTHER:PTHR15036:SF37,Gene3D:2.60.120.200,Pfam:PF02210,SMART:SM00282,Superfamily:SSF49899 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA LOW 1 SNV 1 NA 0,1 NA NA . CCG . 38.6 8.87e-05 NA NA NA NA 4.655e-05 0.0001691 0.0001665 3.278e-05 124527292 CNTNAP5 129684 . GRCh38 chr2 124527316 124527316 + Silent SNP T T C NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1506T>C p.Cys502= p.C502= ENST00000431078 10/24 NA NA NA NA NA NA CNTNAP5,synonymous_variant,p.Cys502=,ENST00000431078,NM_001367498.1,NM_130773.4;,regulatory_region_variant,,ENSR00000619107,; C ENSG00000155052 ENST00000431078 Transcript synonymous_variant 1870/5284 1506/3921 502/1306 C tgT/tgC COSV70471784 1 NA 1 CNTNAP5 HGNC HGNC:18748 protein_coding YES CCDS46401.1 ENSP00000399013 Q8WYK1.128 UPI0000071988 NM_001367498.1,NM_130773.4 10/24 PROSITE_profiles:PS50025,CDD:cd00110,PANTHER:PTHR15036,PANTHER:PTHR15036:SF37,Gene3D:2.60.120.200,Pfam:PF02210,SMART:SM00282,Superfamily:SSF49899 NA NA NA NA NA NA NA NA NA 1 NA NA NA NA LOW 1 SNV 1 NA 1 NA NA . GTT . 83.6 NA NA NA NA NA NA NA NA NA 124527316 PROC 5624 . GRCh38 chr2 127421340 127421340 + Missense_Mutation SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.128C>T p.Ala43Val p.A43V ENST00000409048 2/7 NA NA NA NA NA NA PROC,missense_variant,p.Ala43Val,ENST00000234071,NM_001375611.1,NM_001375602.1,NM_000312.4,NM_001375608.1,NM_001375610.1,NM_001375606.1,NM_001375604.1,NM_001375609.1,NM_001375613.1;PROC,missense_variant,p.Ala43Val,ENST00000409048,NM_001375607.1,NM_001375605.1,NM_001375603.1;PROC,missense_variant,p.Ala43Val,ENST00000442644,;PROC,missense_variant,p.Ala43Val,ENST00000427769,;PROC,missense_variant,p.Ala43Val,ENST00000429925,;PROC,upstream_gene_variant,,ENST00000402125,;MIR4783,downstream_gene_variant,,ENST00000580343,;PROC,synonymous_variant,p.Cys31=,ENST00000431364,;PROC,synonymous_variant,p.Cys31=,ENST00000419985,;PROC,non_coding_transcript_exon_variant,,ENST00000474030,;PROC,upstream_gene_variant,,ENST00000464089,; T ENSG00000115718 ENST00000409048 Transcript missense_variant 189/1586 128/1488 43/495 A/V gCc/gTc 1 NA 1 PROC HGNC HGNC:9451 protein_coding YES ENSP00000386679 E7END6.77 UPI0000208C7E NM_001375607.1,NM_001375605.1,NM_001375603.1 deleterious(0) probably_damaging(0.983) 2/7 PIRSF:PIRSF001143,Gene3D:4.10.740.10,SMART:SM00069,Superfamily:SSF57630,PROSITE_profiles:PS50998,PANTHER:PTHR24278,PANTHER:PTHR24278:SF0 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA 1 . GCC . 7492.6 NA NA NA NA NA NA NA NA NA 127421340 UGGT1 56886 . GRCh38 chr2 128097458 128097458 + Missense_Mutation SNP G G C NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.88G>C p.Val30Leu p.V30L ENST00000259253 2/41 NA NA NA NA NA NA UGGT1,missense_variant,p.Val30Leu,ENST00000259253,NM_020120.4;UGGT1,missense_variant,p.Val19Leu,ENST00000438277,;UGGT1,missense_variant,p.Val19Leu,ENST00000430075,;UGGT1,3_prime_UTR_variant,,ENST00000376723,; C ENSG00000136731 ENST00000259253 Transcript missense_variant 246/10761 88/4668 30/1555 V/L Gta/Cta COSV52140773 1 NA 1 UGGT1 HGNC HGNC:15663 protein_coding YES CCDS2154.1 ENSP00000259253 Q9NYU2.167 UPI00000707D8 NM_020120.4 tolerated(0.88) benign(0.001) 2/41 Transmembrane_helices:TMhelix,PANTHER:PTHR11226:SF3,PANTHER:PTHR11226 NA NA NA NA NA NA NA NA NA 1 NA NA NA NA MODERATE 1 SNV 1 NA 1 NA NA . TGT . 2115.6 NA NA NA NA NA NA NA NA NA 128097458 POTEF 728378 . GRCh38 chr2 130115218 130115218 + Missense_Mutation SNP A A G rs200596208 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.632T>C p.Ile211Thr p.I211T ENST00000409914 4/17 NA NA NA NA NA NA POTEF,missense_variant,p.Ile211Thr,ENST00000409914,NM_001099771.2;POTEF,missense_variant,p.Ile211Thr,ENST00000361163,;,regulatory_region_variant,,ENSR00001037495,; G ENSG00000196604 ENST00000409914 Transcript missense_variant 1032/4337 632/3228 211/1075 I/T aTa/aCa rs200596208 1 NA -1 POTEF HGNC HGNC:33905 protein_coding YES CCDS46409.1 ENSP00000386786 A5A3E0.112 UPI0000418FEA NM_001099771.2 tolerated_low_confidence(0.28) benign(0.01) 4/17 Pfam:PF12796,Gene3D:1.25.40.20,SMART:SM00248,Superfamily:SSF48403,PROSITE_profiles:PS50297,PANTHER:PTHR24118:SF56,PANTHER:PTHR24118 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . TAT . 92.6 1.629e-05 NA NA NA NA NA 2.703e-05 NA 3.299e-05 130115218 POTEJ 653781 . GRCh38 chr2 130657579 130657579 + Missense_Mutation SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2819C>T p.Thr940Ile p.T940I ENST00000409602 15/15 NA NA NA NA NA NA POTEJ,missense_variant,p.Thr940Ile,ENST00000409602,NM_001277083.2; T ENSG00000222038 ENST00000409602 Transcript missense_variant 2912/3370 2819/3117 940/1038 T/I aCt/aTt 1 NA 1 POTEJ HGNC HGNC:37094 protein_coding YES CCDS59432.1 ENSP00000387176 P0CG39.81 UPI0000DD7A4B NM_001277083.2 deleterious_low_confidence(0.03) possibly_damaging(0.713) 15/15 Gene3D:3.30.420.40,Pfam:PF00022,Gene3D:3.30.420.40,SMART:SM00268,Superfamily:SSF53067 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . ACT . 5609.6 NA NA NA NA NA NA NA NA NA 130657579 MGAT5 4249 . GRCh38 chr2 134338295 134338295 + Missense_Mutation SNP A A G novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.682A>G p.Met228Val p.M228V ENST00000281923 6/16 NA NA NA NA NA NA MGAT5,missense_variant,p.Met228Val,ENST00000281923,NM_002410.5;MGAT5,missense_variant,p.Met228Val,ENST00000409645,NM_001371457.1;,regulatory_region_variant,,ENSR00001037906,; G ENSG00000152127 ENST00000281923 Transcript missense_variant 1014/8332 682/2226 228/741 M/V Atg/Gtg 1 NA 1 MGAT5 HGNC HGNC:7049 protein_coding YES CCDS2171.1 ENSP00000281923 Q09328.160 UPI0000049D8F NM_002410.5 tolerated(0.4) benign(0) 6/16 PDB-ENSP_mappings:5zib.A,PDB-ENSP_mappings:5zic.A,PDB-ENSP_mappings:5zic.B,PANTHER:PTHR15075,PANTHER:PTHR15075:SF5,Pfam:PF15024 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . TAT . 762.6 NA NA NA NA NA NA NA NA NA 134338295 MAP3K19 80122 . GRCh38 chr2 134986698 134986698 + Missense_Mutation SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2174G>A p.Cys725Tyr p.C725Y ENST00000392915 10/13 NA NA NA NA NA NA MAP3K19,missense_variant,p.Cys725Tyr,ENST00000392915,;MAP3K19,missense_variant,p.Cys725Tyr,ENST00000375845,NM_025052.4,NM_001321177.1;MAP3K19,missense_variant,p.Cys612Tyr,ENST00000358371,NM_001018044.2;MAP3K19,missense_variant,p.Cys630Tyr,ENST00000637841,;MAP3K19,missense_variant,p.Cys115Tyr,ENST00000437365,;MAP3K19,intron_variant,,ENST00000375844,NM_001018046.2;MAP3K19,intron_variant,,ENST00000392917,NM_001282883.1;MAP3K19,intron_variant,,ENST00000392918,NM_001018047.2;MAP3K19,non_coding_transcript_exon_variant,,ENST00000638025,;MAP3K19,downstream_gene_variant,,ENST00000425952,;MAP3K19,downstream_gene_variant,,ENST00000658678,;MAP3K19,upstream_gene_variant,,ENST00000661220,;MAP3K19,upstream_gene_variant,,ENST00000669737,;MAP3K19,3_prime_UTR_variant,,ENST00000662522,;MAP3K19,downstream_gene_variant,,ENST00000468155,;MAP3K19,upstream_gene_variant,,ENST00000478805,;MAP3K19,upstream_gene_variant,,ENST00000661533,;MAP3K19,upstream_gene_variant,,ENST00000668969,; T ENSG00000176601 ENST00000392915 Transcript missense_variant 2858/5030 2174/3987 725/1328 C/Y tGc/tAc 1 NA -1 MAP3K19 HGNC HGNC:26249 protein_coding YES CCDS2176.2 ENSP00000376647 Q56UN5.134 UPI00004F77F2 deleterious(0) benign(0) 10/13 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . GCA . 2767.6 NA NA NA NA NA NA NA NA NA 134986698 MAP3K19 80122 . GRCh38 chr2 134987593 134987593 + Missense_Mutation SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1279G>A p.Ala427Thr p.A427T ENST00000392915 10/13 NA NA NA NA NA NA MAP3K19,missense_variant,p.Ala427Thr,ENST00000392915,;MAP3K19,missense_variant,p.Ala427Thr,ENST00000375845,NM_025052.4,NM_001321177.1;MAP3K19,missense_variant,p.Ala314Thr,ENST00000358371,NM_001018044.2;MAP3K19,missense_variant,p.Ala332Thr,ENST00000637841,;MAP3K19,intron_variant,,ENST00000375844,NM_001018046.2;MAP3K19,intron_variant,,ENST00000392917,NM_001282883.1;MAP3K19,intron_variant,,ENST00000392918,NM_001018047.2;MAP3K19,upstream_gene_variant,,ENST00000437365,;MAP3K19,non_coding_transcript_exon_variant,,ENST00000638025,;MAP3K19,downstream_gene_variant,,ENST00000425952,;MAP3K19,downstream_gene_variant,,ENST00000658678,;MAP3K19,upstream_gene_variant,,ENST00000661220,;MAP3K19,upstream_gene_variant,,ENST00000669737,;MAP3K19,3_prime_UTR_variant,,ENST00000662522,;MAP3K19,downstream_gene_variant,,ENST00000468155,;MAP3K19,upstream_gene_variant,,ENST00000478805,;MAP3K19,upstream_gene_variant,,ENST00000661533,; T ENSG00000176601 ENST00000392915 Transcript missense_variant 1963/5030 1279/3987 427/1328 A/T Gca/Aca 1 NA -1 MAP3K19 HGNC HGNC:26249 protein_coding YES CCDS2176.2 ENSP00000376647 Q56UN5.134 UPI00004F77F2 tolerated(0.16) benign(0.013) 10/13 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . GCT . 3200.6 NA NA NA NA NA NA NA NA NA 134987593 R3HDM1 23518 . GRCh38 chr2 135616693 135616693 + Missense_Mutation SNP G G A rs755222892 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.239G>A p.Arg80Gln p.R80Q ENST00000409606 5/26 NA NA NA NA NA NA R3HDM1,missense_variant,p.Arg80Gln,ENST00000264160,NM_015361.4,NM_001354199.2;R3HDM1,missense_variant,p.Arg80Gln,ENST00000409606,NM_001378107.1,NM_001354200.2,NM_001282798.2;R3HDM1,missense_variant,p.Arg63Gln,ENST00000456040,;R3HDM1,intron_variant,,ENST00000409478,NM_001282799.2;R3HDM1,intron_variant,,ENST00000410054,NM_001282800.2;R3HDM1,intron_variant,,ENST00000436436,;R3HDM1,intron_variant,,ENST00000628915,;R3HDM1,intron_variant,,ENST00000488035,;R3HDM1,upstream_gene_variant,,ENST00000480793,; A ENSG00000048991 ENST00000409606 Transcript missense_variant 558/3673 239/3303 80/1100 R/Q cGg/cAg rs755222892,COSV51531288 1 NA 1 R3HDM1 HGNC HGNC:9757 protein_coding YES CCDS63025.1 ENSP00000387010 Q15032.156 UPI0001881805 NM_001378107.1,NM_001354200.2,NM_001282798.2 deleterious(0) benign(0.005) 5/26 Low_complexity_(Seg):seg,PANTHER:PTHR15672:SF12,PANTHER:PTHR15672 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 2 NA 0,1 NA NA . CGG . 3853.6 8.147e-06 NA 2.941e-05 NA NA NA NA NA 3.378e-05 135616693 LCT 3938 . GRCh38 chr2 135829613 135829613 + Nonsense_Mutation SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.784C>T p.Gln262Ter p.Q262* ENST00000264162 3/17 NA NA NA NA NA NA LCT,stop_gained,p.Gln262Ter,ENST00000264162,NM_002299.4; A ENSG00000115850 ENST00000264162 Transcript stop_gained 799/6273 784/5784 262/1927 Q/* Cag/Tag 1 NA -1 LCT HGNC HGNC:6530 protein_coding YES CCDS2178.1 ENSP00000264162 P09848.190 UPI000013D4D2 NM_002299.4 3/17 Superfamily:SSF51445 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 SNV 1 NA NA 1 . TGC . 2319.6 NA NA NA NA NA NA NA NA NA 135829613 NEB 4703 . GRCh38 chr2 151502845 151502845 + Missense_Mutation SNP G G T rs747960478 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.23981C>A p.Pro7994His p.P7994H ENST00000618972 168/183 NA NA NA NA NA NA NEB,missense_variant,p.Pro7994His,ENST00000618972,NM_001271208.2;NEB,missense_variant,p.Pro7959His,ENST00000397345,NM_001164508.1;NEB,missense_variant,p.Pro7959His,ENST00000427231,NM_001164507.1;NEB,missense_variant,p.Pro7959His,ENST00000603639,;NEB,missense_variant,p.Pro7959His,ENST00000604864,;NEB,missense_variant,p.Pro6258His,ENST00000409198,NM_004543.5;NEB,missense_variant,p.Pro6258His,ENST00000172853,;NEB,missense_variant,p.Pro155His,ENST00000397337,;NEB,missense_variant,p.Pro136His,ENST00000421461,;NEB,missense_variant,p.Pro186His,ENST00000424585,;NEB,intron_variant,,ENST00000413693,;NEB,intron_variant,,ENST00000434685,;NEB,intron_variant,,ENST00000498015,;RIF1,downstream_gene_variant,,ENST00000457745,;RIF1,upstream_gene_variant,,ENST00000467762,;RIF1,downstream_gene_variant,,ENST00000484077,;RIF1,intron_variant,,ENST00000454583,; T ENSG00000183091 ENST00000618972 Transcript missense_variant 24184/26307 23981/25683 7994/8560 P/H cCt/cAt rs747960478 1 NA -1 NEB HGNC HGNC:7720 protein_coding YES CCDS74588.1 ENSP00000484342 A0A087X1N7.36 UPI0004E4CCB0 NM_001271208.2 deleterious(0) probably_damaging(0.958) 168/183 PANTHER:PTHR11039,PANTHER:PTHR11039:SF37,SMART:SM00227 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA 1 . AGG . 410.6 NA NA NA NA NA NA NA NA NA 151502845 FMNL2 114793 . GRCh38 chr2 152619552 152619553 + In_Frame_Ins INS - - CCA rs5835439 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1673_1674insACC p.Pro573dup p.P573dup ENST00000288670 15/26 NA NA NA NA NA NA FMNL2,inframe_insertion,p.Pro573dup,ENST00000288670,NM_052905.4;FMNL2,upstream_gene_variant,,ENST00000475377,; CCA ENSG00000157827 ENST00000288670 Transcript inframe_insertion 2101-2102/5630 1671-1672/3279 557-558/1092 -/P -/CCA rs5835439 1 NA 1 FMNL2 HGNC HGNC:18267 protein_coding YES CCDS46429.1 ENSP00000288670 Q96PY5.146 UPI0000441EF9 NM_052905.4 15/26 Low_complexity_(Seg):seg,PANTHER:PTHR45857,PANTHER:PTHR45857:SF5,Prints:PR00049,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite NA 0.9932 1 NA 1 1 0.999 NA NA NA NA NA NA MODERATE 1 insertion 1 2 NA NA . CGC . 797.06 NA NA NA NA NA NA NA NA NA 152619552 PRPF40A 55660 . GRCh38 chr2 152669153 152669153 + Frame_Shift_Del DEL T T - novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1940del p.Asn647IlefsTer9 p.N647Ifs*9 ENST00000410080 16/26 NA NA NA NA NA NA PRPF40A,frameshift_variant,p.Asn647IlefsTer9,ENST00000410080,NM_017892.4,NM_001354431.2,NM_001354432.2,NM_001365601.2,NM_001365600.2,NM_001365605.2,NM_001365603.2,NM_001365599.2,NM_001365598.2,NM_001365597.2,NM_001365596.2,NM_001365604.2,NM_001365602.2;PRPF40A,downstream_gene_variant,,ENST00000545856,;PRPF40A,downstream_gene_variant,,ENST00000354363,; - ENSG00000196504 ENST00000410080 Transcript frameshift_variant 2290/8048 1940/2985 647/994 N/X aAt/at 1 NA -1 PRPF40A HGNC HGNC:16463 protein_coding YES ENSP00000386458 A0A3F2YNY6.10 UPI0001881747 NM_017892.4,NM_001354431.2,NM_001354432.2,NM_001365601.2,NM_001365600.2,NM_001365605.2,NM_001365603.2,NM_001365599.2,NM_001365598.2,NM_001365597.2,NM_001365596.2,NM_001365604.2,NM_001365602.2 16/26 Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,PROSITE_profiles:PS51676,PANTHER:PTHR11864:SF20,PANTHER:PTHR11864,Gene3D:1.10.10.440,Pfam:PF01846,SMART:SM00441,Superfamily:SSF81698 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 5 NA NA NA . TATT . 658.6 NA NA NA NA NA NA NA NA NA 152669152 PRPF40A 55660 . GRCh38 chr2 152671296 152671296 + Missense_Mutation SNP A A T novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1648T>A p.Phe550Ile p.F550I ENST00000410080 14/26 NA NA NA NA NA NA PRPF40A,missense_variant,p.Phe550Ile,ENST00000410080,NM_017892.4,NM_001354431.2,NM_001354432.2,NM_001365601.2,NM_001365600.2,NM_001365605.2,NM_001365603.2,NM_001365599.2,NM_001365598.2,NM_001365597.2,NM_001365596.2,NM_001365604.2,NM_001365602.2;PRPF40A,downstream_gene_variant,,ENST00000545856,;PRPF40A,downstream_gene_variant,,ENST00000354363,; T ENSG00000196504 ENST00000410080 Transcript missense_variant 1998/8048 1648/2985 550/994 F/I Ttc/Atc 1 NA -1 PRPF40A HGNC HGNC:16463 protein_coding YES ENSP00000386458 A0A3F2YNY6.10 UPI0001881747 NM_017892.4,NM_001354431.2,NM_001354432.2,NM_001365601.2,NM_001365600.2,NM_001365605.2,NM_001365603.2,NM_001365599.2,NM_001365598.2,NM_001365597.2,NM_001365596.2,NM_001365604.2,NM_001365602.2 deleterious(0.01) benign(0.366) 14/26 PROSITE_profiles:PS51676,PANTHER:PTHR11864:SF20,PANTHER:PTHR11864,Gene3D:1.10.10.440,SMART:SM00441,Superfamily:SSF81698 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . AAC . 283.6 NA NA NA NA NA NA NA NA NA 152671296 CYTIP 9595 . GRCh38 chr2 157415893 157415893 + Silent SNP C C T NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.864G>A p.Lys288= p.K288= ENST00000264192 8/8 NA NA NA NA NA NA CYTIP,synonymous_variant,p.Lys288=,ENST00000264192,NM_004288.5;CYTIP,downstream_gene_variant,,ENST00000418920,;CYTIP,downstream_gene_variant,,ENST00000457793,; T ENSG00000115165 ENST00000264192 Transcript synonymous_variant 933/2207 864/1080 288/359 K aaG/aaA COSV51633445,COSV51635264 1 NA -1 CYTIP HGNC HGNC:9506 protein_coding YES CCDS2204.1 ENSP00000264192 O60759.142 UPI0000035D67 NM_004288.5 8/8 PANTHER:PTHR15963:SF1,PANTHER:PTHR15963 NA NA NA NA NA NA NA NA NA 1,1 NA NA NA NA LOW 1 SNV 1 NA 1,1 NA NA . CCT . 3087.6 NA NA NA NA NA NA NA NA NA 157415893 IFIH1 64135 . GRCh38 chr2 162276807 162276807 + Silent SNP T T A novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2184A>T p.Arg728= p.R728= ENST00000649979 11/16 NA NA NA NA NA NA IFIH1,synonymous_variant,p.Arg728=,ENST00000649979,NM_022168.4;IFIH1,synonymous_variant,p.Arg689=,ENST00000648433,;IFIH1,non_coding_transcript_exon_variant,,ENST00000649554,; A ENSG00000115267 ENST00000649979 Transcript synonymous_variant 2561/3581 2184/3078 728/1025 R cgA/cgT 1 NA -1 IFIH1 HGNC HGNC:18873 protein_coding YES CCDS2217.1 ENSP00000497271 Q9BYX4.178 UPI000013D436 NM_022168.4 11/16 PROSITE_profiles:PS51194,CDD:cd18802,PANTHER:PTHR14074,PANTHER:PTHR14074:SF14,Pfam:PF00271,Superfamily:SSF52540 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV NA NA NA 1 . GTC . 2006.6 NA NA NA NA NA NA NA NA NA 162276807 XIRP2 129446 . GRCh38 chr2 167246140 167246140 + Missense_Mutation SNP C C T rs201253811 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4082C>T p.Ala1361Val p.A1361V ENST00000672671 7/9 NA NA NA NA NA NA XIRP2,missense_variant,p.Ala1583Val,ENST00000409195,NM_152381.6;XIRP2,missense_variant,p.Ala1361Val,ENST00000409273,NM_001199144.2;XIRP2,missense_variant,p.Ala1408Val,ENST00000628543,;XIRP2,missense_variant,p.Ala1361Val,ENST00000672671,;XIRP2,intron_variant,,ENST00000409043,NM_001079810.3;XIRP2,intron_variant,,ENST00000409605,NM_001199145.2;XIRP2,intron_variant,,ENST00000409728,NM_001199143.1;XIRP2,intron_variant,,ENST00000672716,;XIRP2,upstream_gene_variant,,ENST00000295237,;XIRP2,non_coding_transcript_exon_variant,,ENST00000672277,; T ENSG00000163092 ENST00000672671 Transcript missense_variant 4346/12154 4082/11514 1361/3837 A/V gCa/gTa rs201253811,COSV54703920 1 NA 1 XIRP2 HGNC HGNC:14303 protein_coding YES ENSP00000499978 A0A5F9ZH43.3 UPI00123519BF tolerated(0.08) possibly_damaging(0.765) 7/9 PANTHER:PTHR22591:SF1,PANTHER:PTHR22591 NA NA NA NA NA NA NA NA 0.0001222 0,1 NA NA NA NA MODERATE 1 SNV NA NA 0,1 NA NA . GCA . 2527.6 4.847e-05 NA 2.919e-05 NA NA NA 9.796e-05 NA NA 167246140 STK39 27347 . GRCh38 chr2 168247286 168247287 + In_Frame_Ins INS - - GCCGGG rs537577117 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.144_149dup p.Pro49_Ala50dup p.P49_A50dup ENST00000355999 1/18 NA NA NA NA NA NA STK39,inframe_insertion,p.Pro49_Ala50dup,ENST00000355999,NM_013233.3;,regulatory_region_variant,,ENSR00000125871,; GCCGGG ENSG00000198648 ENST00000355999 Transcript inframe_insertion 309-310/3272 149-150/1638 50/545 A/APA gcg/gcCCCGGCg rs537577117 1 NA -1 STK39 HGNC HGNC:17717 protein_coding YES CCDS42770.1 ENSP00000348278 Q9UEW8.190 UPI000013D46D NM_013233.3 1/18 Low_complexity_(Seg):seg,PANTHER:PTHR24361:SF671,PANTHER:PTHR24361 NA 0.2405 0.3818 NA 0.1597 0.6471 0.4468 0.3462 0.6765 NA NA NA NA MODERATE 1 insertion 1 NA NA NA . CCG . 2385.06 NA NA NA NA NA NA NA NA NA 168247286 NOSTRIN 115677 . GRCh38 chr2 168843053 168843053 + Frame_Shift_Del DEL A A - rs1282346576 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.572del p.Asn191ThrfsTer9 p.N191Tfs*9 ENST00000444448 10/19 NA NA NA NA NA NA NOSTRIN,frameshift_variant,p.Asn191ThrfsTer9,ENST00000444448,;NOSTRIN,frameshift_variant,p.Asn191ThrfsTer9,ENST00000458381,NM_001171631.1;NOSTRIN,frameshift_variant,p.Asn191ThrfsTer9,ENST00000317647,NM_001039724.4;NOSTRIN,frameshift_variant,p.Asn113ThrfsTer9,ENST00000445023,NM_052946.3;NOSTRIN,frameshift_variant,p.Asn113ThrfsTer9,ENST00000397206,;NOSTRIN,frameshift_variant,p.Asn163ThrfsTer9,ENST00000397209,NM_001171632.1;NOSTRIN,frameshift_variant,p.Asn113ThrfsTer9,ENST00000447264,;SPC25,intron_variant,,ENST00000479309,;NOSTRIN,non_coding_transcript_exon_variant,,ENST00000486873,;,regulatory_region_variant,,ENSR00000627362,; - ENSG00000163072 ENST00000444448 Transcript frameshift_variant 1042/2537 566/1692 189/563 Q/X cAa/ca rs1282346576 1 NA 1 NOSTRIN HGNC HGNC:20203 protein_coding YES CCDS54415.1 ENSP00000394051 Q8IVI9.158 UPI00001400FD 10/19 PROSITE_profiles:PS51741,PANTHER:PTHR14167:SF31,PANTHER:PTHR14167,Gene3D:1.20.1270.60,Superfamily:SSF103657 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 5 6 NA NA . CCAA . 2987.6 4.021e-06 NA NA NA NA NA NA NA 3.278e-05 168843052 LRP2 4036 . GRCh38 chr2 169140515 169140515 + Frame_Shift_Del DEL G G - rs80338754 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.13139del p.Pro4380HisfsTer46 p.P4380Hfs*46 ENST00000649046 72/79 NA NA NA NA NA NA LRP2,frameshift_variant,p.Pro4380HisfsTer46,ENST00000649046,NM_004525.3;LRP2,splice_region_variant,,ENST00000650252,;LRP2,intron_variant,,ENST00000649153,;LRP2,upstream_gene_variant,,ENST00000491228,;,regulatory_region_variant,,ENSR00001040529,; - ENSG00000081479 ENST00000649046 Transcript frameshift_variant 13274/15657 13139/13968 4380/4655 P/X cCa/ca rs80338754 1 NA -1 LRP2 HGNC HGNC:6694 protein_coding YES CCDS2232.1 ENSP00000496870 P98164.202 UPI0000141BA5 NM_004525.3 72/79 SMART:SM00181,PROSITE_profiles:PS50026 NA NA NA NA NA NA NA NA NA likely_pathogenic,pathogenic 17632512,20301732 NA NA NA NA HIGH 1 sequence_alteration NA NA 1 NA 1 . ATGG . 3069.06 1.206e-05 6.206e-05 NA NA NA NA 1.781e-05 NA NA 169140514 FASTKD1 79675 . GRCh38 chr2 169555192 169555192 + Silent SNP A A C novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1146T>G p.Thr382= p.T382= ENST00000453153 7/15 NA NA NA NA NA NA FASTKD1,synonymous_variant,p.Thr382=,ENST00000453153,NM_001322048.1,NM_001322046.1,NM_024622.6;FASTKD1,synonymous_variant,p.Thr382=,ENST00000453929,NM_001322049.1,NM_001281476.2; C ENSG00000138399 ENST00000453153 Transcript synonymous_variant 1485/4200 1146/2544 382/847 T acT/acG 1 NA -1 FASTKD1 HGNC HGNC:26150 protein_coding YES CCDS33318.1 ENSP00000400513 Q53R41.114 UPI000050BC4D NM_001322048.1,NM_001322046.1,NM_024622.6 7/15 PANTHER:PTHR21228:SF29,PANTHER:PTHR21228 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . GAG . 566.6 NA NA NA NA NA NA NA NA NA 169555192 OSBPL6 114880 . GRCh38 chr2 178391107 178391108 + Frame_Shift_Ins INS - - G novel NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2416dup p.Val806GlyfsTer19 p.V806Gfs*19 ENST00000392505 23/26 NA NA NA NA NA NA OSBPL6,frameshift_variant,p.Val781GlyfsTer19,ENST00000190611,NM_032523.4;OSBPL6,frameshift_variant,p.Val745GlyfsTer19,ENST00000359685,NM_001201482.1;OSBPL6,frameshift_variant,p.Val806GlyfsTer19,ENST00000392505,NM_001201480.2;OSBPL6,frameshift_variant,p.Val750GlyfsTer19,ENST00000409045,NM_001201481.2;OSBPL6,frameshift_variant,p.Val745GlyfsTer19,ENST00000409631,;OSBPL6,frameshift_variant,p.Val785GlyfsTer19,ENST00000315022,NM_145739.3; G ENSG00000079156 ENST00000392505 Transcript frameshift_variant 2955-2956/3637 2411-2412/2880 804/959 Q/QX cag/caGg 1 NA 1 OSBPL6 HGNC HGNC:16388 protein_coding YES CCDS56150.1 ENSP00000376293 Q9BZF3.161 UPI0000E5A29F NM_001201480.2 23/26 PANTHER:PTHR10972,PANTHER:PTHR10972:SF76,Pfam:PF01237,Gene3D:2.40.160.120,Superfamily:SSF144000 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 insertion 1 5 NA NA . CAG . 1718.64 NA NA NA NA NA NA NA NA NA 178391107 PRKRA 8575 . GRCh38 chr2 178450414 178450415 + Splice_Region INS - - AAGGTCCCACTGTCCTCGCGCTCCAGCGGCGGGGCCTCGGCGGTGCCTGCTCTGGGACAGGGCGAGAAGGGACGGCT novel NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.66-4_66-3insAGCCGTCCCTTCTCGCCCTGTCCCAGAGCAGGCACCGCCGAGGCCCCGCCGCTGGAGCGCGAGGACAGTGGGACCTT ENST00000325748 NA NA NA NA NA NA PRKRA,stop_gained,p.Cys10Ter,ENST00000432031,NM_001139517.1;PRKRA,splice_region_variant,,ENST00000325748,NM_003690.5;PRKRA,splice_region_variant,,ENST00000487082,NM_001139518.1;PRKRA,intron_variant,,ENST00000677689,;PRKRA,intron_variant,,ENST00000677981,;PRKRA,intron_variant,,ENST00000678775,NM_001316362.2;PRKRA,intron_variant,,ENST00000678845,;PJVK,upstream_gene_variant,,ENST00000375129,NM_001369912.1;PJVK,upstream_gene_variant,,ENST00000442710,;PJVK,upstream_gene_variant,,ENST00000642192,NM_001353778.1;PJVK,upstream_gene_variant,,ENST00000642492,;PJVK,upstream_gene_variant,,ENST00000643738,;PJVK,upstream_gene_variant,,ENST00000644554,;PJVK,upstream_gene_variant,,ENST00000644580,NM_001042702.5,NM_001353775.1;PJVK,upstream_gene_variant,,ENST00000645572,NM_001353776.1;PJVK,upstream_gene_variant,,ENST00000645817,NM_001353777.1;PJVK,upstream_gene_variant,,ENST00000647226,;PRKRA,splice_region_variant,,ENST00000460433,;PRKRA,splice_region_variant,,ENST00000470200,;PJVK,upstream_gene_variant,,ENST00000643768,;PRKRA,stop_gained,p.Cys10Ter,ENST00000457633,;PRKRA,stop_gained,p.Cys10Ter,ENST00000677206,;PRKRA,stop_gained,p.Cys10Ter,ENST00000676505,;PRKRA,stop_gained,p.Cys10Ter,ENST00000448279,;PRKRA,splice_region_variant,,ENST00000424699,;PRKRA,splice_region_variant,,ENST00000463882,;PRKRA,splice_region_variant,,ENST00000466165,;PRKRA,splice_region_variant,,ENST00000676832,;PRKRA,splice_region_variant,,ENST00000676922,;PRKRA,splice_region_variant,,ENST00000677253,;PRKRA,splice_region_variant,,ENST00000677386,;PRKRA,splice_region_variant,,ENST00000677460,;PRKRA,splice_region_variant,,ENST00000677584,;PRKRA,splice_region_variant,,ENST00000677806,;PRKRA,splice_region_variant,,ENST00000678053,;PRKRA,splice_region_variant,,ENST00000678167,;PRKRA,splice_region_variant,,ENST00000678813,;PRKRA,splice_region_variant,,ENST00000679037,;PJVK,upstream_gene_variant,,ENST00000437056,;PJVK,upstream_gene_variant,,ENST00000444615,;PRKRA,upstream_gene_variant,,ENST00000474793,;PJVK,upstream_gene_variant,,ENST00000645762,;PRKRA,upstream_gene_variant,,ENST00000676586,;PRKRA,upstream_gene_variant,,ENST00000677136,;PRKRA,upstream_gene_variant,,ENST00000677859,;PRKRA,upstream_gene_variant,,ENST00000678058,;PRKRA,upstream_gene_variant,,ENST00000678379,;PRKRA,upstream_gene_variant,,ENST00000679202,;,regulatory_region_variant,,ENSR00000126971,;NUDCP2,upstream_gene_variant,,ENST00000437039,; AAGGTCCCACTGTCCTCGCGCTCCAGCGGCGGGGCCTCGGCGGTGCCTGCTCTGGGACAGGGCGAGAAGGGACGGCT ENSG00000180228 ENST00000325748 Transcript splice_region_variant,intron_variant 1 NA -1 PRKRA HGNC HGNC:9438 protein_coding YES CCDS2279.1 ENSP00000318176 O75569.184 UPI0000073B07 NM_003690.5 1/7 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 insertion 1 NA NA 1 . TGC . 1169.64 NA NA NA NA NA NA NA NA NA 178450414 TTN 7273 . GRCh38 chr2 178569637 178569637 + Missense_Mutation SNP T T C novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.76495A>G p.Ile25499Val p.I25499V ENST00000589042 326/363 NA NA NA NA NA NA TTN,missense_variant,p.Ile25499Val,ENST00000589042,NM_001267550.2;TTN,missense_variant,p.Ile23858Val,ENST00000591111,;TTN,missense_variant,p.Ile22931Val,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,missense_variant,p.Ile16434Val,ENST00000460472,NM_003319.4;TTN,missense_variant,p.Ile16626Val,ENST00000342175,NM_133437.4;TTN,missense_variant,p.Ile16559Val,ENST00000359218,NM_133432.3;TTN-AS1,intron_variant,,ENST00000419746,;TTN-AS1,intron_variant,,ENST00000438095,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000586452,;TTN-AS1,intron_variant,,ENST00000586707,;TTN-AS1,intron_variant,,ENST00000586831,;TTN-AS1,intron_variant,,ENST00000590773,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000590932,;TTN-AS1,intron_variant,,ENST00000591332,;TTN-AS1,intron_variant,,ENST00000592600,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000592689,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000625480,;TTN-AS1,intron_variant,,ENST00000625536,;TTN-AS1,intron_variant,,ENST00000626117,;TTN-AS1,intron_variant,,ENST00000626138,;TTN-AS1,intron_variant,,ENST00000626954,;TTN-AS1,intron_variant,,ENST00000627564,;TTN-AS1,intron_variant,,ENST00000628296,;TTN-AS1,intron_variant,,ENST00000628826,;TTN-AS1,intron_variant,,ENST00000630096,;TTN-AS1,intron_variant,,ENST00000653807,;TTN-AS1,intron_variant,,ENST00000657023,;TTN-AS1,intron_variant,,ENST00000659121,; C ENSG00000155657 ENST00000589042 Transcript missense_variant 76720/109224 76495/107976 25499/35991 I/V Att/Gtt 1 NA -1 TTN HGNC HGNC:12403 protein_coding YES CCDS59435.1 ENSP00000467141 A0A0A0MTS7.47 UPI00046209C6 NM_001267550.2 benign(0) 326/363 Gene3D:2.60.40.10,PROSITE_profiles:PS50853,PANTHER:PTHR13817,PANTHER:PTHR13817:SF10,Superfamily:SSF49265 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA 1 . ATA . 4048.6 NA NA NA NA NA NA NA NA NA 178569637 TTN 7273 . GRCh38 chr2 178773985 178773985 + Missense_Mutation SNP C C T NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.7183G>A p.Val2395Met p.V2395M ENST00000589042 31/363 NA NA NA NA NA NA TTN,missense_variant,p.Val2395Met,ENST00000589042,NM_001267550.2;TTN,missense_variant,p.Val2395Met,ENST00000591111,;TTN,missense_variant,p.Val2395Met,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,missense_variant,p.Val2349Met,ENST00000460472,NM_003319.4;TTN,missense_variant,p.Val2349Met,ENST00000342175,NM_133437.4;TTN,missense_variant,p.Val2349Met,ENST00000359218,NM_133432.3;TTN,missense_variant,p.Val2395Met,ENST00000360870,NM_133379.5;TTN-AS1,intron_variant,,ENST00000584485,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000590773,;TTN-AS1,intron_variant,,ENST00000610005,;TTN-AS1,intron_variant,,ENST00000653807,;TTN-AS1,intron_variant,,ENST00000657023,;TTN-AS1,intron_variant,,ENST00000657818,;TTN-AS1,intron_variant,,ENST00000659121,;TTN-AS1,intron_variant,,ENST00000663178,;TTN-AS1,intron_variant,,ENST00000664776,;TTN-AS1,upstream_gene_variant,,ENST00000582038,;TTN-AS1,upstream_gene_variant,,ENST00000629094,; T ENSG00000155657 ENST00000589042 Transcript missense_variant 7408/109224 7183/107976 2395/35991 V/M Gtg/Atg COSV60236216 1 NA -1 TTN HGNC HGNC:12403 protein_coding YES CCDS59435.1 ENSP00000467141 A0A0A0MTS7.47 UPI00046209C6 NM_001267550.2 possibly_damaging(0.595) 31/363 Gene3D:2.60.40.10,Pfam:PF07679,PROSITE_profiles:PS50835,PANTHER:PTHR13817,PANTHER:PTHR13817:SF10,SMART:SM00409,Superfamily:SSF48726,CDD:cd00096 NA NA NA NA NA NA NA NA NA 1 NA NA NA NA MODERATE 1 SNV 5 NA 1 NA 1 . ACT . 1463.6 NA NA NA NA NA NA NA NA NA 178773985 CWC22 57703 . GRCh38 chr2 179959055 179959055 + Silent SNP T T C novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1425A>G p.Lys475= p.K475= ENST00000410053 14/20 NA NA NA NA NA NA CWC22,synonymous_variant,p.Lys475=,ENST00000410053,NM_020943.3,NM_001376032.1,NM_001376029.1,NM_001376030.1;CWC22,synonymous_variant,p.Lys475=,ENST00000404136,NM_001376033.1; C ENSG00000163510 ENST00000410053 Transcript synonymous_variant 1969/3524 1425/2727 475/908 K aaA/aaG 1 NA -1 CWC22 HGNC HGNC:29322 protein_coding YES CCDS46465.1 ENSP00000387006 Q9HCG8.142 UPI00001C1DAE NM_020943.3,NM_001376032.1,NM_001376029.1,NM_001376030.1 14/20 PDB-ENSP_mappings:5mqf.T,PDB-ENSP_mappings:5xjc.V,PDB-ENSP_mappings:5yzg.V,PDB-ENSP_mappings:5z56.V,PDB-ENSP_mappings:5z57.V,PDB-ENSP_mappings:5z58.V,PDB-ENSP_mappings:6ff7.T,PDB-ENSP_mappings:6icz.V,PDB-ENSP_mappings:6qdv.H,Pfam:PF02847,PROSITE_profiles:PS51366,PANTHER:PTHR18034,PANTHER:PTHR18034:SF3,SMART:SM00544 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . ATT . 111.6 NA NA NA NA NA NA NA NA NA 179959055 CWC22 57703 . GRCh38 chr2 179959061 179959061 + Silent SNP A A T novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1419T>A p.Ala473= p.A473= ENST00000410053 14/20 NA NA NA NA NA NA CWC22,synonymous_variant,p.Ala473=,ENST00000410053,NM_020943.3,NM_001376032.1,NM_001376029.1,NM_001376030.1;CWC22,synonymous_variant,p.Ala473=,ENST00000404136,NM_001376033.1; T ENSG00000163510 ENST00000410053 Transcript synonymous_variant 1963/3524 1419/2727 473/908 A gcT/gcA 1 NA -1 CWC22 HGNC HGNC:29322 protein_coding YES CCDS46465.1 ENSP00000387006 Q9HCG8.142 UPI00001C1DAE NM_020943.3,NM_001376032.1,NM_001376029.1,NM_001376030.1 14/20 PDB-ENSP_mappings:5mqf.T,PDB-ENSP_mappings:5xjc.V,PDB-ENSP_mappings:5yzg.V,PDB-ENSP_mappings:5z56.V,PDB-ENSP_mappings:5z57.V,PDB-ENSP_mappings:5z58.V,PDB-ENSP_mappings:6ff7.T,PDB-ENSP_mappings:6icz.V,PDB-ENSP_mappings:6qdv.H,Pfam:PF02847,PROSITE_profiles:PS51366,PANTHER:PTHR18034,PANTHER:PTHR18034:SF3,SMART:SM00544 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . GAG . 117.6 NA NA NA NA NA NA NA NA NA 179959061 CWC22 57703 . GRCh38 chr2 179970505 179970505 + Silent SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1206G>A p.Lys402= p.K402= ENST00000410053 11/20 NA NA NA NA NA NA CWC22,synonymous_variant,p.Lys402=,ENST00000410053,NM_020943.3,NM_001376032.1,NM_001376029.1,NM_001376030.1;CWC22,synonymous_variant,p.Lys402=,ENST00000404136,NM_001376033.1; T ENSG00000163510 ENST00000410053 Transcript synonymous_variant 1750/3524 1206/2727 402/908 K aaG/aaA 1 NA -1 CWC22 HGNC HGNC:29322 protein_coding YES CCDS46465.1 ENSP00000387006 Q9HCG8.142 UPI00001C1DAE NM_020943.3,NM_001376032.1,NM_001376029.1,NM_001376030.1 11/20 Gene3D:1.25.40.180,PDB-ENSP_mappings:4c9b.B,PDB-ENSP_mappings:5mqf.T,PDB-ENSP_mappings:5xjc.V,PDB-ENSP_mappings:5yzg.V,PDB-ENSP_mappings:5z56.V,PDB-ENSP_mappings:5z57.V,PDB-ENSP_mappings:5z58.V,PDB-ENSP_mappings:6ff7.T,PDB-ENSP_mappings:6icz.V,PDB-ENSP_mappings:6qdv.H,PDB-ENSP_mappings:6yvh.A,PDB-ENSP_mappings:6yvh.B,PDB-ENSP_mappings:6yvh.D,PDB-ENSP_mappings:6yvh.F,PANTHER:PTHR18034,PANTHER:PTHR18034:SF3 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . TCT . 35.44 NA NA NA NA NA NA NA NA NA 179970505 CWC22 57703 . GRCh38 chr2 179970514 179970514 + Silent SNP T T C novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1197A>G p.Lys399= p.K399= ENST00000410053 11/20 NA NA NA NA NA NA CWC22,synonymous_variant,p.Lys399=,ENST00000410053,NM_020943.3,NM_001376032.1,NM_001376029.1,NM_001376030.1;CWC22,synonymous_variant,p.Lys399=,ENST00000404136,NM_001376033.1; C ENSG00000163510 ENST00000410053 Transcript synonymous_variant 1741/3524 1197/2727 399/908 K aaA/aaG 1 NA -1 CWC22 HGNC HGNC:29322 protein_coding YES CCDS46465.1 ENSP00000387006 Q9HCG8.142 UPI00001C1DAE NM_020943.3,NM_001376032.1,NM_001376029.1,NM_001376030.1 11/20 Gene3D:1.25.40.180,PDB-ENSP_mappings:4c9b.B,PDB-ENSP_mappings:5mqf.T,PDB-ENSP_mappings:5xjc.V,PDB-ENSP_mappings:5yzg.V,PDB-ENSP_mappings:5z56.V,PDB-ENSP_mappings:5z57.V,PDB-ENSP_mappings:5z58.V,PDB-ENSP_mappings:6ff7.T,PDB-ENSP_mappings:6icz.V,PDB-ENSP_mappings:6qdv.H,PDB-ENSP_mappings:6yvh.A,PDB-ENSP_mappings:6yvh.B,PDB-ENSP_mappings:6yvh.D,PDB-ENSP_mappings:6yvh.F,PANTHER:PTHR18034,PANTHER:PTHR18034:SF3 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . CTT . 31.6 NA NA NA NA NA NA NA NA NA 179970514 ORMDL1 94101 . GRCh38 chr2 189775700 189775700 + Frame_Shift_Del DEL A A - novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.191del p.Leu64CysfsTer4 p.L64Cfs*4 ENST00000325795 2/3 NA NA NA NA NA NA ORMDL1,frameshift_variant,p.Leu64CysfsTer4,ENST00000325795,;ORMDL1,frameshift_variant,p.Leu64CysfsTer4,ENST00000392349,NM_001371386.1,NM_016467.5;ORMDL1,frameshift_variant,p.Leu64CysfsTer4,ENST00000392350,NM_001371384.1,NM_001371385.1,NM_001128150.2;ORMDL1,frameshift_variant,p.Leu64CysfsTer4,ENST00000409519,;ORMDL1,frameshift_variant,p.Leu64CysfsTer4,ENST00000458355,NM_001371387.1;ORMDL1,frameshift_variant,p.Leu64CysfsTer4,ENST00000442547,NM_001371388.1;ORMDL1,upstream_gene_variant,,ENST00000496543,; - ENSG00000128699 ENST00000325795 Transcript frameshift_variant 978/2692 191/462 64/153 L/X tTg/tg 1 NA -1 ORMDL1 HGNC HGNC:16036 protein_coding YES CCDS2301.1 ENSP00000326869 Q9P0S3.138 UPI0000073E90 2/3 Pfam:PF04061,PIRSF:PIRSF018147,PANTHER:PTHR12665,PANTHER:PTHR12665:SF12 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 NA NA NA . GCAA . 2077.6 NA NA NA NA NA NA NA NA NA 189775699 DNAH7 56171 . GRCh38 chr2 195923650 195923650 + Frame_Shift_Del DEL T T - rs34468832 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3770del p.Asn1257IlefsTer11 p.N1257Ifs*11 ENST00000312428 23/65 NA NA NA NA NA NA DNAH7,frameshift_variant,p.Asn1257IlefsTer11,ENST00000312428,NM_018897.3; - ENSG00000118997 ENST00000312428 Transcript frameshift_variant 3896/12419 3770/12075 1257/4024 N/X aAt/at rs34468832 1 NA -1 DNAH7 HGNC HGNC:18661 protein_coding YES CCDS42794.1 ENSP00000311273 Q8WXX0.143 UPI0000141B95 NM_018897.3 23/65 Gene3D:1.20.58.1120,PANTHER:PTHR10676,PANTHER:PTHR10676:SF310 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 NA NA NA . TATT . 2292.6 8.192e-06 NA NA NA NA NA 1.811e-05 NA NA 195923649 PLCL1 5334 . GRCh38 chr2 198088937 198088937 + Missense_Mutation SNP C C A NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2795C>A p.Ser932Tyr p.S932Y ENST00000428675 3/6 NA NA NA NA NA NA PLCL1,missense_variant,p.Ser932Tyr,ENST00000428675,NM_006226.4;PLCL1,missense_variant,p.Ser855Tyr,ENST00000437704,;PLCL1,missense_variant,p.Ser858Tyr,ENST00000487695,;PLCL1,3_prime_UTR_variant,,ENST00000435320,; A ENSG00000115896 ENST00000428675 Transcript missense_variant 3302/6696 2795/3288 932/1095 S/Y tCt/tAt COSV70852378 1 NA 1 PLCL1 HGNC HGNC:9063 protein_coding YES CCDS2326.2 ENSP00000402861 Q15111.162 UPI000165BCF5 NM_006226.4 deleterious(0.01) possibly_damaging(0.781) 3/6 PANTHER:PTHR10336,PANTHER:PTHR10336:SF102 NA NA NA NA NA NA NA NA NA 1 NA NA NA NA MODERATE 1 SNV 1 NA 1 NA NA . TCT . 1585.6 NA NA NA NA NA NA NA NA NA 198088937 KCTD18 130535 . GRCh38 chr2 200490156 200490156 + Missense_Mutation SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1225G>A p.Glu409Lys p.E409K ENST00000359878 7/7 NA NA NA NA NA NA KCTD18,missense_variant,p.Glu409Lys,ENST00000359878,NM_001321550.2,NM_152387.4;KCTD18,missense_variant,p.Glu409Lys,ENST00000409157,NM_001321548.2,NM_001321547.2;KCTD18,downstream_gene_variant,,ENST00000468413,; T ENSG00000155729 ENST00000359878 Transcript missense_variant 1741/2939 1225/1281 409/426 E/K Gaa/Aaa 1 NA -1 KCTD18 HGNC HGNC:26446 protein_coding YES CCDS2330.1 ENSP00000352941 Q6PI47.124 UPI0000209355 NM_001321550.2,NM_152387.4 tolerated_low_confidence(0.08) benign(0.028) 7/7 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . TCG . 2428.6 NA NA NA NA NA NA NA NA NA 200490156 KIAA2012 100652824 . GRCh38 chr2 202202454 202202454 + Missense_Mutation SNP T T C rs4673235 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3433T>C p.Phe1145Leu p.F1145L ENST00000498697 23/24 NA NA NA NA NA NA KIAA2012,missense_variant,p.Phe1145Leu,ENST00000498697,NM_001277372.4,NM_001367720.2;SUMO1,downstream_gene_variant,,ENST00000392244,NM_001005782.2;SUMO1,downstream_gene_variant,,ENST00000392245,NM_001005781.2;SUMO1,downstream_gene_variant,,ENST00000392246,NM_001371392.1,NM_003352.8;SUMO1,downstream_gene_variant,,ENST00000409181,;SUMO1,downstream_gene_variant,,ENST00000409205,;SUMO1,downstream_gene_variant,,ENST00000409368,NM_001371394.1;SUMO1,downstream_gene_variant,,ENST00000409498,;SUMO1,downstream_gene_variant,,ENST00000409712,NM_001371393.1;SUMO1,downstream_gene_variant,,ENST00000469034,;SUMO1,downstream_gene_variant,,ENST00000409627,;KIAA2012,downstream_gene_variant,,ENST00000469462,;DAZAP2P1,upstream_gene_variant,,ENST00000475212,; C ENSG00000182329 ENST00000498697 Transcript missense_variant 3806/4130 3433/3546 1145/1181 F/L Ttt/Ctt rs4673235 1 NA 1 KIAA2012 HGNC HGNC:51250 protein_coding YES CCDS74631.2 ENSP00000419834 H7C5G6.55 UPI0005D0279F NM_001277372.4,NM_001367720.2 tolerated(1) benign(0.003) 23/24 PANTHER:PTHR21937,CDD:cd06503 NA 0.9402 0.9942 NA 1 0.999 1 NA NA NA NA NA NA MODERATE NA SNV 5 NA NA NA . TTT . 6208.03 NA NA NA NA NA NA NA NA NA 202202454 ZDBF2 57683 . GRCh38 chr2 206307131 206307131 + Missense_Mutation SNP G G A rs116568985 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2603G>A p.Ser868Asn p.S868N ENST00000649650 6/6 NA NA NA NA NA NA ZDBF2,missense_variant,p.Ser868Asn,ENST00000649650,NM_001369654.1;ZDBF2,missense_variant,p.Ser868Asn,ENST00000374423,NM_020923.3;ZDBF2,missense_variant,p.Ser866Asn,ENST00000611847,NM_001285549.2;ZDBF2,missense_variant,p.Ser868Asn,ENST00000649525,;ZDBF2,3_prime_UTR_variant,,ENST00000649998,;ZDBF2,3_prime_UTR_variant,,ENST00000650097,;ZDBF2,downstream_gene_variant,,ENST00000649441,;ZDBF2,3_prime_UTR_variant,,ENST00000649285,;ZDBF2,3_prime_UTR_variant,,ENST00000648361,;ZDBF2,downstream_gene_variant,,ENST00000649289,; A ENSG00000204186 ENST00000649650 Transcript missense_variant 3007/10303 2603/7065 868/2354 S/N aGt/aAt rs116568985 1 NA 1 ZDBF2 HGNC HGNC:29313 protein_coding YES CCDS46501.1 ENSP00000497308 Q9HCK1.107 N0DVB2.45 UPI000022BDE3 NM_001369654.1 deleterious(0.03) benign(0.307) 6/6 PANTHER:PTHR21639,MobiDB_lite:mobidb-lite 2e-04 NA NA NA NA 0.001 NA NA NA NA NA NA NA MODERATE 1 SNV NA NA NA NA . AGT . 4071.6 4.042e-06 NA NA NA NA NA 8.905e-06 NA NA 206307131 CRYGA 1418 . GRCh38 chr2 208160853 208160853 + Frame_Shift_Del DEL C C - rs762650691 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.476del p.Gly159ValfsTer9 p.G159Vfs*9 ENST00000304502 3/3 NA NA NA NA NA NA CRYGA,frameshift_variant,p.Gly159ValfsTer9,ENST00000304502,NM_014617.4;C2orf80,downstream_gene_variant,,ENST00000341287,NM_001099334.3;C2orf80,downstream_gene_variant,,ENST00000428015,;C2orf80,downstream_gene_variant,,ENST00000451342,;C2orf80,downstream_gene_variant,,ENST00000451346,;C2orf80,downstream_gene_variant,,ENST00000453017,; - ENSG00000168582 ENST00000304502 Transcript frameshift_variant 509/622 476/525 159/174 G/X gGt/gt rs762650691 1 NA -1 CRYGA HGNC HGNC:2408 protein_coding YES CCDS33367.1 ENSP00000302105 P11844.163 A0A0S2A4T3.29 UPI000049DF32 NM_014617.4 3/3 Gene3D:2.60.20.10,Pfam:PF00030,PROSITE_profiles:PS50915,PANTHER:PTHR11818,PANTHER:PTHR11818:SF28,SMART:SM00247,Superfamily:SSF49695 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 NA NA NA . CACC . 4026.6 3.991e-06 NA NA NA NA NA 8.838e-06 NA NA 208160852 KANSL1L 151050 . GRCh38 chr2 210022956 210022956 + Frame_Shift_Del DEL T T - rs747849946 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2957del p.Asn986IlefsTer12 p.N986Ifs*12 ENST00000281772 15/15 NA NA NA NA NA NA KANSL1L,frameshift_variant,p.Asn986IlefsTer12,ENST00000281772,NM_152519.4;KANSL1L,frameshift_variant,p.Asn944IlefsTer12,ENST00000418791,NM_001307976.2;RPE,downstream_gene_variant,,ENST00000354506,NM_001278285.1;RPE,downstream_gene_variant,,ENST00000359429,NM_001318926.1,NM_001318928.1,NM_001278289.1,NM_199229.3;RPE,downstream_gene_variant,,ENST00000408981,;RPE,downstream_gene_variant,,ENST00000411934,NM_001318931.1,NM_001278286.1;RPE,downstream_gene_variant,,ENST00000429907,;RPE,downstream_gene_variant,,ENST00000429921,NM_001278283.1,NM_001278282.1;RPE,downstream_gene_variant,,ENST00000435437,NM_001318929.2;RPE,downstream_gene_variant,,ENST00000436630,;RPE,downstream_gene_variant,,ENST00000438204,NM_001278288.1,NM_001318930.1;RPE,downstream_gene_variant,,ENST00000445268,;RPE,downstream_gene_variant,,ENST00000452025,NM_001318927.1;RPE,downstream_gene_variant,,ENST00000454822,NM_006916.2;KANSL1L,downstream_gene_variant,,ENST00000634716,; - ENSG00000144445 ENST00000281772 Transcript frameshift_variant 3247/4782 2957/2964 986/987 N/X aAt/at rs747849946 1 NA -1 KANSL1L HGNC HGNC:26310 protein_coding YES CCDS33370.1 ENSP00000281772 A0AUZ9.100 UPI00002094A9 NM_152519.4 15/15 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH NA deletion 5 NA NA NA . TATT . 1232.6 2.851e-05 NA 2.98e-05 NA NA 4.683e-05 4.502e-05 NA NA 210022955 ERBB4 2066 . GRCh38 chr2 211420573 211420573 + Silent SNP G G A rs760509675 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3003C>T p.Ser1001= p.S1001= ENST00000342788 25/28 NA NA NA NA NA NA ERBB4,synonymous_variant,p.Ser1001=,ENST00000342788,NM_005235.3;ERBB4,synonymous_variant,p.Ser1001=,ENST00000436443,NM_001042599.1;ERBB4,synonymous_variant,p.Ser975=,ENST00000402597,; A ENSG00000178568 ENST00000342788 Transcript synonymous_variant 3275/12097 3003/3927 1001/1308 S agC/agT rs760509675,COSV61508412 1 NA -1 ERBB4 HGNC HGNC:3432 protein_coding YES CCDS2394.1 ENSP00000342235 Q15303.223 UPI00000499DF NM_005235.3 25/28 Gene3D:1.10.510.10,PDB-ENSP_mappings:3bbt.B,PDB-ENSP_mappings:3bbt.D,PDB-ENSP_mappings:3bbw.A,PDB-ENSP_mappings:3bbw.B,PDB-ENSP_mappings:3bce.A,PDB-ENSP_mappings:3bce.B,PDB-ENSP_mappings:3bce.C,PIRSF:PIRSF000619,PANTHER:PTHR24416,PANTHER:PTHR24416:SF90,Superfamily:SSF56112,CDD:cd05110 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA LOW 1 SNV 1 NA 0,1 NA 1 . TGC . 4978.6 3.983e-06 NA NA NA NA NA 8.805e-06 NA NA 211420573 FN1 2335 . GRCh38 chr2 215382262 215382262 + Missense_Mutation SNP G G C novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.5114C>G p.Ala1705Gly p.A1705G ENST00000354785 32/46 NA NA NA NA NA NA FN1,missense_variant,p.Ala1705Gly,ENST00000323926,NM_001365521.2,NM_001306129.2;FN1,missense_variant,p.Ala1614Gly,ENST00000359671,NM_001365524.2,NM_001365520.2,NM_001365518.2;FN1,missense_variant,p.Ala1614Gly,ENST00000336916,NM_002026.4;FN1,missense_variant,p.Ala1705Gly,ENST00000354785,NM_212482.4;FN1,missense_variant,p.Ala1614Gly,ENST00000421182,NM_001306132.2;FN1,missense_variant,p.Ala1614Gly,ENST00000446046,NM_212478.3;FN1,missense_variant,p.Ala1614Gly,ENST00000357867,NM_212474.3;FN1,missense_variant,p.Ala1614Gly,ENST00000356005,NM_001365523.2,NM_212476.3;FN1,missense_variant,p.Ala1614Gly,ENST00000443816,NM_001306131.2;FN1,missense_variant,p.Ala1705Gly,ENST00000432072,NM_001306130.2,NM_001365522.2,NM_001365519.2,NM_001365517.2;FN1,missense_variant,p.Ala421Gly,ENST00000456923,;FN1,non_coding_transcript_exon_variant,,ENST00000490833,;FN1,non_coding_transcript_exon_variant,,ENST00000492816,;FN1,non_coding_transcript_exon_variant,,ENST00000480737,;FN1,upstream_gene_variant,,ENST00000474036,;,regulatory_region_variant,,ENSR00001044324,; C ENSG00000115414 ENST00000354785 Transcript missense_variant 5380/8390 5114/7434 1705/2477 A/G gCt/gGt 1 NA -1 FN1 HGNC HGNC:3778 protein_coding YES CCDS42814.1 ENSP00000346839 P02751.260 UPI0000E5A2B5 NM_212482.4 deleterious(0.02) probably_damaging(0.998) 32/46 Gene3D:2.60.40.10,Pfam:PF00041,PROSITE_profiles:PS50853,PANTHER:PTHR24020,PANTHER:PTHR24020:SF34,SMART:SM00060,Superfamily:SSF49265,CDD:cd00063 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . AGC . 4659.6 NA NA NA NA NA NA NA NA NA 215382262 FN1 2335 . GRCh38 chr2 215386748 215386748 + Missense_Mutation SNP C C T rs1240835249 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4553G>A p.Ser1518Asn p.S1518N ENST00000354785 28/46 NA NA NA NA NA NA FN1,missense_variant,p.Ser1518Asn,ENST00000323926,NM_001365521.2,NM_001306129.2;FN1,missense_variant,p.Ser1427Asn,ENST00000359671,NM_001365524.2,NM_001365520.2,NM_001365518.2;FN1,missense_variant,p.Ser1427Asn,ENST00000336916,NM_002026.4;FN1,missense_variant,p.Ser1518Asn,ENST00000354785,NM_212482.4;FN1,missense_variant,p.Ser1427Asn,ENST00000421182,NM_001306132.2;FN1,missense_variant,p.Ser1427Asn,ENST00000446046,NM_212478.3;FN1,missense_variant,p.Ser1427Asn,ENST00000357867,NM_212474.3;FN1,missense_variant,p.Ser1427Asn,ENST00000356005,NM_001365523.2,NM_212476.3;FN1,missense_variant,p.Ser1427Asn,ENST00000443816,NM_001306131.2;FN1,missense_variant,p.Ser1518Asn,ENST00000432072,NM_001306130.2,NM_001365522.2,NM_001365519.2,NM_001365517.2;FN1,missense_variant,p.Ser234Asn,ENST00000456923,;FN1,upstream_gene_variant,,ENST00000490833,;FN1,non_coding_transcript_exon_variant,,ENST00000492816,;FN1,upstream_gene_variant,,ENST00000480737,; T ENSG00000115414 ENST00000354785 Transcript missense_variant 4819/8390 4553/7434 1518/2477 S/N aGc/aAc rs1240835249 1 NA -1 FN1 HGNC HGNC:3778 protein_coding YES CCDS42814.1 ENSP00000346839 P02751.260 UPI0000E5A2B5 NM_212482.4 tolerated(0.19) benign(0.255) 28/46 Gene3D:2.60.40.10,Pfam:PF00041,PROSITE_profiles:PS50853,PANTHER:PTHR24020,PANTHER:PTHR24020:SF34,SMART:SM00060,Superfamily:SSF49265,CDD:cd00063 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . GCT . 2883.6 NA NA NA NA NA NA NA NA NA 215386748 TNS1 7145 . GRCh38 chr2 217817873 217817873 + Missense_Mutation SNP T T C novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4522A>G p.Thr1508Ala p.T1508A ENST00000646520 24/33 NA NA NA NA NA NA TNS1,missense_variant,p.Thr1508Ala,ENST00000646520,;TNS1,missense_variant,p.Thr1383Ala,ENST00000171887,NM_022648.6;TNS1,missense_variant,p.Thr1475Ala,ENST00000651849,;TNS1,missense_variant,p.Thr1370Ala,ENST00000611415,;TNS1,missense_variant,p.Thr1013Ala,ENST00000615025,;TNS1,missense_variant,p.Thr1370Ala,ENST00000419504,NM_001308022.1;TNS1,missense_variant,p.Thr1362Ala,ENST00000430930,NM_001308023.2;TNS1,missense_variant,p.Thr494Ala,ENST00000446688,;TNS1,upstream_gene_variant,,ENST00000490566,;TNS1,upstream_gene_variant,,ENST00000495556,; C ENSG00000079308 ENST00000646520 Transcript missense_variant 4748/10680 4522/5583 1508/1860 T/A Aca/Gca 1 NA -1 TNS1 HGNC HGNC:11973 protein_coding YES ENSP00000493967 A0A2R8Y4T1.11 UPI000D18D7F2 tolerated(0.46) benign(0.287) 24/33 PANTHER:PTHR45734,PANTHER:PTHR45734:SF3,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV NA NA NA NA . GTT . 4648.6 NA NA NA NA NA NA NA NA NA 217817873 AAMP 14 . GRCh38 chr2 218270056 218270056 + Missense_Mutation SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.31G>A p.Ala11Thr p.A11T ENST00000444053 1/11 NA NA NA NA NA NA AAMP,missense_variant,p.Ala11Thr,ENST00000444053,NM_001302545.2;AAMP,missense_variant,p.Ala11Thr,ENST00000248450,NM_001087.5;PNKD,upstream_gene_variant,,ENST00000248451,NM_001077399.3;TMBIM1,downstream_gene_variant,,ENST00000258412,NM_001321438.1,NM_001321433.1,NM_001321432.1,NM_001321428.1,NM_022152.6;PNKD,upstream_gene_variant,,ENST00000273077,NM_015488.5;TMBIM1,downstream_gene_variant,,ENST00000396809,NM_001321435.1,NM_001321436.1,NM_001321430.1,NM_001321429.1;AAMP,upstream_gene_variant,,ENST00000420660,;AAMP,upstream_gene_variant,,ENST00000422731,;TMBIM1,downstream_gene_variant,,ENST00000444881,NM_001321427.1;TMBIM1,downstream_gene_variant,,ENST00000445635,;AAMP,upstream_gene_variant,,ENST00000447885,;PNKD,upstream_gene_variant,,ENST00000472650,;AAMP,non_coding_transcript_exon_variant,,ENST00000475678,;AAMP,non_coding_transcript_exon_variant,,ENST00000489767,;AAMP,non_coding_transcript_exon_variant,,ENST00000461911,;TMBIM1,downstream_gene_variant,,ENST00000465082,;AAMP,upstream_gene_variant,,ENST00000465442,;PNKD,upstream_gene_variant,,ENST00000469689,;AAMP,upstream_gene_variant,,ENST00000494720,;,regulatory_region_variant,,ENSR00000130383,; T ENSG00000127837 ENST00000444053 Transcript missense_variant 123/1804 31/1308 11/435 A/T Gct/Act 1 NA -1 AAMP HGNC HGNC:18 protein_coding YES CCDS77530.1 ENSP00000403343 C9JEH3.98 UPI0000D47C6F NM_001302545.2 tolerated_low_confidence(0.37) benign(0.021) 1/11 PANTHER:PTHR19857,PANTHER:PTHR19857:SF17,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . GCA . 2050.6 NA NA NA NA NA NA NA NA NA 218270056 ZNF142 7701 . GRCh38 chr2 218642434 218642434 + Missense_Mutation SNP T T G novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4682A>C p.Glu1561Ala p.E1561A ENST00000411696 9/11 NA NA NA NA NA NA ZNF142,missense_variant,p.Glu1561Ala,ENST00000411696,NM_001379660.1,NM_001379661.1,NM_001379659.1,NM_001366290.3;ZNF142,missense_variant,p.Glu1361Ala,ENST00000449707,NM_001379662.1,NM_001105537.4,NM_001366289.2,NM_001366288.2,NM_001366287.2,NM_001366291.2;ZNF142,downstream_gene_variant,,ENST00000440934,;ZNF142,3_prime_UTR_variant,,ENST00000450765,;ZNF142,3_prime_UTR_variant,,ENST00000433921,; G ENSG00000115568 ENST00000411696 Transcript missense_variant 5298/11290 4682/5664 1561/1887 E/A gAg/gCg 1 NA -1 ZNF142 HGNC HGNC:12927 protein_coding YES ENSP00000398798 P52746.172 UPI0003EAF146 NM_001379660.1,NM_001379661.1,NM_001379659.1,NM_001366290.3 tolerated(0.07) benign(0.001) 9/11 Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,PANTHER:PTHR24403,PANTHER:PTHR24403:SF72,SMART:SM00355 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA 1 . CTC . 4579.6 NA NA NA NA NA NA NA NA NA 218642434 ZNF142 7701 . GRCh38 chr2 218643384 218643384 + Silent SNP G G A rs1479386727 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3732C>T p.His1244= p.H1244= ENST00000411696 9/11 NA NA NA NA NA NA ZNF142,synonymous_variant,p.His1244=,ENST00000411696,NM_001379660.1,NM_001379661.1,NM_001379659.1,NM_001366290.3;ZNF142,synonymous_variant,p.His1044=,ENST00000449707,NM_001379662.1,NM_001105537.4,NM_001366289.2,NM_001366288.2,NM_001366287.2,NM_001366291.2;ZNF142,downstream_gene_variant,,ENST00000440934,;ZNF142,3_prime_UTR_variant,,ENST00000450765,;ZNF142,3_prime_UTR_variant,,ENST00000433921,; A ENSG00000115568 ENST00000411696 Transcript synonymous_variant 4348/11290 3732/5664 1244/1887 H caC/caT rs1479386727 1 NA -1 ZNF142 HGNC HGNC:12927 protein_coding YES ENSP00000398798 P52746.172 UPI0003EAF146 NM_001379660.1,NM_001379661.1,NM_001379659.1,NM_001366290.3 9/11 PANTHER:PTHR24403,PANTHER:PTHR24403:SF72,SMART:SM00355 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA 1 . CGT . 2686.6 4.008e-06 NA NA NA 5.562e-05 NA NA NA NA 218643384 BCS1L 617 . GRCh38 chr2 218663264 218663264 + Missense_Mutation SNP T T C novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1138T>C p.Phe380Leu p.F380L ENST00000431802 8/8 NA NA NA NA NA NA BCS1L,missense_variant,p.Phe380Leu,ENST00000431802,NM_001374085.1,NM_001371446.1,NM_001371451.1,NM_001371450.1;BCS1L,missense_variant,p.Phe380Leu,ENST00000392111,NM_001371444.1,NM_004328.5,NM_001371449.1,NM_001257343.2,NM_001257342.2;BCS1L,missense_variant,p.Phe380Leu,ENST00000392109,;BCS1L,missense_variant,p.Phe380Leu,ENST00000392110,;BCS1L,missense_variant,p.Phe380Leu,ENST00000439945,NM_001371448.1,NM_001320717.2;BCS1L,missense_variant,p.Phe380Leu,ENST00000412366,NM_001257344.2;BCS1L,missense_variant,p.Phe380Leu,ENST00000359273,NM_001371443.1,NM_001079866.2,NM_001371447.1,NM_001318836.2;BCS1L,missense_variant,p.Phe162Leu,ENST00000426649,NM_001374086.1,NM_001371454.1,NM_001371453.1,NM_001371456.1,NM_001371455.1,NM_001371452.1;BCS1L,3_prime_UTR_variant,,ENST00000436603,;RNF25,downstream_gene_variant,,ENST00000295704,NM_022453.3;ZNF142,upstream_gene_variant,,ENST00000411696,NM_001379660.1,NM_001379661.1,NM_001379659.1,NM_001366290.3;BCS1L,downstream_gene_variant,,ENST00000423377,;BCS1L,downstream_gene_variant,,ENST00000428880,;BCS1L,downstream_gene_variant,,ENST00000430322,;ZNF142,upstream_gene_variant,,ENST00000440934,;BCS1L,downstream_gene_variant,,ENST00000443791,;ZNF142,upstream_gene_variant,,ENST00000449707,NM_001379662.1,NM_001105537.4,NM_001366289.2,NM_001366288.2,NM_001366287.2,NM_001366291.2;ZNF142,upstream_gene_variant,,ENST00000450560,;BCS1L,downstream_gene_variant,,ENST00000456050,;BCS1L,downstream_gene_variant,,ENST00000643945,;BCS1L,non_coding_transcript_exon_variant,,ENST00000465706,;BCS1L,non_coding_transcript_exon_variant,,ENST00000460579,;BCS1L,non_coding_transcript_exon_variant,,ENST00000477422,;RNF25,downstream_gene_variant,,ENST00000423170,;ZNF142,upstream_gene_variant,,ENST00000433921,;ZNF142,upstream_gene_variant,,ENST00000450765,;RNF25,downstream_gene_variant,,ENST00000463188,;BCS1L,downstream_gene_variant,,ENST00000471576,;RNF25,downstream_gene_variant,,ENST00000473034,;RNF25,downstream_gene_variant,,ENST00000474339,;BCS1L,downstream_gene_variant,,ENST00000490188,;BCS1L,downstream_gene_variant,,ENST00000493376,;RNF25,downstream_gene_variant,,ENST00000497832,; C ENSG00000074582 ENST00000431802 Transcript missense_variant 1837/2015 1138/1260 380/419 F/L Ttt/Ctt 1 NA 1 BCS1L HGNC HGNC:1020 protein_coding YES CCDS2419.1 ENSP00000413908 Q9Y276.170 A0A024R445.3 UPI0000073C9C NM_001374085.1,NM_001371446.1,NM_001371451.1,NM_001371450.1 tolerated(0.2) probably_damaging(0.977) 8/8 PANTHER:PTHR23070,PANTHER:PTHR23070:SF9,Superfamily:SSF52540 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE NA SNV 2 NA NA 1 . CTT . 4778.6 NA NA NA NA NA NA NA NA NA 218663264 IHH 3549 . GRCh38 chr2 219055766 219055766 + Frame_Shift_Del DEL C C - novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.677del p.Gly226GlufsTer29 p.G226Efs*29 ENST00000295731 3/3 NA NA NA NA NA NA IHH,frameshift_variant,p.Gly226GlufsTer29,ENST00000295731,NM_002181.4;MIR3131,downstream_gene_variant,,ENST00000583592,; - ENSG00000163501 ENST00000295731 Transcript frameshift_variant 1131/2473 677/1236 226/411 G/X gGa/ga 1 NA -1 IHH HGNC HGNC:5956 protein_coding YES CCDS33380.1 ENSP00000295731 Q14623.208 UPI0000035883 NM_002181.4 3/3 Gene3D:2.170.16.10,Pfam:PF01079,PIRSF:PIRSF009400,PROSITE_profiles:PS50817,PANTHER:PTHR11889,PANTHER:PTHR11889:SF39,SMART:SM00306,Superfamily:SSF51294,CDD:cd00081 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 NA NA 1 . CTCC . 2925.6 NA NA NA NA NA NA NA NA NA 219055765 ABCB6 10058 . GRCh38 chr2 219213597 219213597 + Missense_Mutation SNP A A G novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1648T>C p.Tyr550His p.Y550H ENST00000265316 10/19 NA NA NA NA NA NA ABCB6,missense_variant,p.Tyr550His,ENST00000265316,NM_005689.4;ABCB6,missense_variant,p.Tyr504His,ENST00000295750,NM_001349828.2;ZFAND2B,downstream_gene_variant,,ENST00000289528,NM_138802.3;ZFAND2B,downstream_gene_variant,,ENST00000409097,;ZFAND2B,downstream_gene_variant,,ENST00000409206,;ZFAND2B,downstream_gene_variant,,ENST00000409217,;ZFAND2B,downstream_gene_variant,,ENST00000409336,;ZFAND2B,downstream_gene_variant,,ENST00000409594,;ZFAND2B,downstream_gene_variant,,ENST00000425849,;ZFAND2B,downstream_gene_variant,,ENST00000444522,NM_001270998.1;ZFAND2B,downstream_gene_variant,,ENST00000621130,NM_001270999.1;ZFAND2B,downstream_gene_variant,,ENST00000469596,;AC068946.2,3_prime_UTR_variant,,ENST00000446716,;ABCB6,3_prime_UTR_variant,,ENST00000448398,;ABCB6,non_coding_transcript_exon_variant,,ENST00000497882,;ABCB6,downstream_gene_variant,,ENST00000417678,;ABCB6,upstream_gene_variant,,ENST00000443805,;ZFAND2B,downstream_gene_variant,,ENST00000448496,;ABCB6,downstream_gene_variant,,ENST00000452545,;ZFAND2B,downstream_gene_variant,,ENST00000464902,;ZFAND2B,downstream_gene_variant,,ENST00000475533,;ABCB6,upstream_gene_variant,,ENST00000485773,;ZFAND2B,downstream_gene_variant,,ENST00000486734,;ABCB6,upstream_gene_variant,,ENST00000487380,;ABCB6,upstream_gene_variant,,ENST00000492543,;ABCB6,downstream_gene_variant,,ENST00000492953,;ABCB6,downstream_gene_variant,,ENST00000494639,;ABCB6,downstream_gene_variant,,ENST00000496984,; G ENSG00000115657 ENST00000265316 Transcript missense_variant 1933/2980 1648/2529 550/842 Y/H Tac/Cac 1 NA -1 ABCB6 HGNC HGNC:47 protein_coding YES CCDS2436.1 ENSP00000265316 Q9NP58.192 UPI000004C4BA NM_005689.4 deleterious(0) benign(0.179) 10/19 Gene3D:1.20.1560.10,PROSITE_profiles:PS50929,PANTHER:PTHR24221,PANTHER:PTHR24221:SF187,Superfamily:SSF90123,CDD:cd18581 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . TAG . 2766.6 NA NA NA NA NA NA NA NA NA 219213597 SPEG 10290 . GRCh38 chr2 219449063 219449063 + Silent SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1905G>A p.Ala635= p.A635= ENST00000312358 4/41 NA NA NA NA NA NA SPEG,synonymous_variant,p.Ala635=,ENST00000312358,NM_005876.5;SPEG,synonymous_variant,p.Ala531=,ENST00000396698,;SPEG,downstream_gene_variant,,ENST00000431523,;SPEG,downstream_gene_variant,,ENST00000435853,;SPEG,downstream_gene_variant,,ENST00000451076,;SPEG,non_coding_transcript_exon_variant,,ENST00000485813,;SPEG,non_coding_transcript_exon_variant,,ENST00000498378,;SPEG,upstream_gene_variant,,ENST00000462545,;SPEG,upstream_gene_variant,,ENST00000463218,;SPEG,downstream_gene_variant,,ENST00000491248,;SPEG,downstream_gene_variant,,ENST00000497065,;SPEG,non_coding_transcript_exon_variant,,ENST00000464989,;SPEG,intron_variant,,ENST00000409595,;SPEG,downstream_gene_variant,,ENST00000403148,;SPEG,downstream_gene_variant,,ENST00000420132,;SPEG,downstream_gene_variant,,ENST00000452101,;,regulatory_region_variant,,ENSR00000637260,;,TF_binding_site_variant,,ENSM00322328008,;,TF_binding_site_variant,,ENSM00494545235,;,TF_binding_site_variant,,ENSM00198340964,;,TF_binding_site_variant,,ENSM00383841934,; A ENSG00000072195 ENST00000312358 Transcript synonymous_variant 2040/10782 1905/9804 635/3267 A gcG/gcA 1 NA 1 SPEG HGNC HGNC:16901 protein_coding YES CCDS42824.1 ENSP00000311684 Q15772.182 UPI000066D99E NM_005876.5 4/41 PANTHER:PTHR47633,PANTHER:PTHR47633:SF3,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA 1 . CGC . 2741.6 NA NA NA NA NA NA NA NA NA 219449063 DOCK10 55619 . GRCh38 chr2 224796363 224796363 + Missense_Mutation SNP A A C rs910558091 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4930T>G p.Ser1644Ala p.S1644A ENST00000645028 44/56 NA NA NA NA NA NA DOCK10,missense_variant,p.Ser1625Ala,ENST00000409592,NM_001290263.2;DOCK10,missense_variant,p.Ser1631Ala,ENST00000258390,NM_014689.3;DOCK10,missense_variant,p.Ser1644Ala,ENST00000645028,NM_001363762.1;DOCK10,downstream_gene_variant,,ENST00000422684,;DOCK10,3_prime_UTR_variant,,ENST00000644695,;DOCK10,upstream_gene_variant,,ENST00000492251,; C ENSG00000135905 ENST00000645028 Transcript missense_variant 4989/7276 4930/6600 1644/2199 S/A Tcg/Gcg rs910558091 1 NA -1 DOCK10 HGNC HGNC:23479 protein_coding YES CCDS86925.1 ENSP00000493664 A0A2R8YD85.16 UPI000387DD02 NM_001363762.1 deleterious(0) probably_damaging(0.992) 44/56 Pfam:PF06920,PANTHER:PTHR23317,PANTHER:PTHR23317:SF71 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV NA NA NA NA . GAA . 2150.6 3.63e-05 NA 0.0001764 NA NA NA 1.224e-05 0.0001982 NA 224796363 COL4A3 1285 . GRCh38 chr2 227304985 227304985 + Missense_Mutation SNP G G A rs752254472 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4154G>A p.Gly1385Glu p.G1385E ENST00000396578 47/52 NA NA NA NA NA NA COL4A3,missense_variant,p.Gly1385Glu,ENST00000396578,NM_000091.5;COL4A3,upstream_gene_variant,,ENST00000643388,;MFF-DT,intron_variant,,ENST00000396588,;MFF-DT,intron_variant,,ENST00000433324,;MFF-DT,intron_variant,,ENST00000437673,;MFF-DT,intron_variant,,ENST00000439598,;MFF-DT,intron_variant,,ENST00000606119,;MFF-DT,intron_variant,,ENST00000656540,;MFF-DT,intron_variant,,ENST00000656707,;MFF-DT,intron_variant,,ENST00000656771,;MFF-DT,intron_variant,,ENST00000657158,;MFF-DT,intron_variant,,ENST00000657873,;MFF-DT,intron_variant,,ENST00000658093,;MFF-DT,intron_variant,,ENST00000658632,;MFF-DT,intron_variant,,ENST00000660803,;MFF-DT,intron_variant,,ENST00000662009,;MFF-DT,intron_variant,,ENST00000665165,;MFF-DT,intron_variant,,ENST00000665988,;MFF-DT,intron_variant,,ENST00000668704,;MFF-DT,intron_variant,,ENST00000670070,;MFF-DT,intron_variant,,ENST00000671563,;COL4A3,downstream_gene_variant,,ENST00000468753,;COL4A3,missense_variant,p.Gly42Glu,ENST00000469504,;COL4A3,downstream_gene_variant,,ENST00000471862,; A ENSG00000169031 ENST00000396578 Transcript missense_variant,splice_region_variant 4257/8038 4154/5013 1385/1670 G/E gGa/gAa rs752254472 1 NA 1 COL4A3 HGNC HGNC:2204 protein_coding YES CCDS42829.1 ENSP00000379823 Q01955.221 UPI000013E9F3 NM_000091.5 deleterious(0) probably_damaging(1) 47/52 Pfam:PF01391,PANTHER:PTHR24023,PANTHER:PTHR24023:SF980,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . GGA . 1044.6 4.016e-06 NA NA 9.946e-05 NA NA NA NA NA 227304985 AGFG1 3267 . GRCh38 chr2 227531191 227531191 + Frame_Shift_Del DEL T T - novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.798del p.Gln267SerfsTer36 p.Q267Sfs*36 ENST00000409979 6/14 NA NA NA NA NA NA AGFG1,frameshift_variant,p.Gln267SerfsTer12,ENST00000310078,NM_004504.5;AGFG1,frameshift_variant,p.Gln267SerfsTer12,ENST00000409315,;AGFG1,frameshift_variant,p.Gln267SerfsTer36,ENST00000409979,NM_001135187.2;AGFG1,frameshift_variant,p.Gln267SerfsTer12,ENST00000409171,NM_001135188.2;AGFG1,frameshift_variant,p.Gln189SerfsTer12,ENST00000456594,;AGFG1,intron_variant,,ENST00000373671,NM_001135189.2; - ENSG00000173744 ENST00000409979 Transcript frameshift_variant 1065/2089 795/1755 265/584 P/X ccT/cc 1 NA 1 AGFG1 HGNC HGNC:5175 protein_coding YES CCDS46533.1 ENSP00000387282 P52594.187 UPI0001814801 NM_001135187.2 6/14 PANTHER:PTHR46134,PANTHER:PTHR46134:SF1 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 5 3 NA NA . CCTT . 2104.6 NA NA NA NA NA NA NA NA NA 227531190 SPHKAP 80309 . GRCh38 chr2 228021908 228021908 + Missense_Mutation SNP C C T rs376987429 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.500G>A p.Ser167Asn p.S167N ENST00000392056 6/12 NA NA NA NA NA NA SPHKAP,missense_variant,p.Ser167Asn,ENST00000392056,NM_001142644.2;SPHKAP,missense_variant,p.Ser167Asn,ENST00000344657,NM_030623.3; T ENSG00000153820 ENST00000392056 Transcript missense_variant 589/6954 500/5103 167/1700 S/N aGt/aAt rs376987429 1 NA -1 SPHKAP HGNC HGNC:30619 protein_coding YES CCDS46537.1 ENSP00000375909 Q2M3C7.118 UPI0000411D7E NM_001142644.2 tolerated(0.11) possibly_damaging(0.617) 6/12 PANTHER:PTHR10226,PANTHER:PTHR10226:SF7 NA NA NA NA NA NA NA NA 0.0001163 NA NA NA NA MODERATE 1 SNV 1 NA NA NA . ACT . 1421.6 3.186e-05 NA NA NA NA NA 6.166e-05 0.0001635 NA 228021908 NMUR1 10316 . GRCh38 chr2 231525112 231525112 + Silent SNP C C T rs768631781 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1212G>A p.Leu404= p.L404= ENST00000305141 3/3 NA NA NA NA NA NA NMUR1,synonymous_variant,p.Leu404=,ENST00000305141,NM_006056.5;AC017104.5,upstream_gene_variant,,ENST00000671602,;,regulatory_region_variant,,ENSR00000639716,; T ENSG00000171596 ENST00000305141 Transcript synonymous_variant 1296/3221 1212/1281 404/426 L ctG/ctA rs768631781 1 NA -1 NMUR1 HGNC HGNC:4518 protein_coding YES CCDS2486.1 ENSP00000305877 Q9HB89.147 UPI0000071CAE NM_006056.5 3/3 PANTHER:PTHR24243,PANTHER:PTHR24243:SF109 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . CCA . 4056.6 2.401e-05 6.167e-05 NA NA NA NA 4.436e-05 NA NA 231525112 PTMA 728026 . GRCh38 chr2 231712823 231712840 + In_Frame_Del DEL AGAAGCAGAAGACCGACG AGAAGCAGAAGACCGACG - novel NA HCI-EC-23 NORMAL AGAAGCAGAAGACCGACG AGAAGCAGAAGACCGACG NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.420_437del p.Lys141_Glu146del p.K141_E146del ENST00000412128 5/5 NA NA NA NA NA NA PTMA,inframe_deletion,p.Lys103_Glu108del,ENST00000409115,NM_002823.5;PTMA,inframe_deletion,p.Lys104_Glu109del,ENST00000341369,NM_001099285.2;PTMA,inframe_deletion,p.Lys100_Glu105del,ENST00000409683,;PTMA,inframe_deletion,p.Lys141_Glu146del,ENST00000412128,;PTMA,inframe_deletion,p.Lys129_Glu134del,ENST00000410064,;PTMA,inframe_deletion,p.Lys124_Glu129del,ENST00000409321,;PTMA,downstream_gene_variant,,ENST00000440384,;MIR1244-1,upstream_gene_variant,,ENST00000612829,;U4,downstream_gene_variant,,ENST00000617137,;PTMA,non_coding_transcript_exon_variant,,ENST00000466801,;PTMA,3_prime_UTR_variant,,ENST00000448874,;PTMA,non_coding_transcript_exon_variant,,ENST00000481928,;PTMA,downstream_gene_variant,,ENST00000467816,;PTMA,downstream_gene_variant,,ENST00000468027,;,regulatory_region_variant,,ENSR00000131869,; - ENSG00000187514 ENST00000412128 Transcript inframe_deletion 418-435/863 419-436/447 140-146/148 KKQKTDE/K aAGAAGCAGAAGACCGACGag/aag 1 NA 1 PTMA HGNC HGNC:9623 protein_coding YES ENSP00000406903 H7C2N1.52 UPI00018819F6 5/5 Pfam:PF03247,PANTHER:PTHR22745,PANTHER:PTHR22745:SF11,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 deletion 3 2 NA NA . CAAGAAGCAGAAGACCGACGA . 569.6 NA NA NA NA NA NA NA NA NA 231712822 INPP5D 3635 . GRCh38 chr2 233169381 233169381 + Silent SNP A A G rs764213570 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1632A>G p.Ser544= p.S544= ENST00000445964 14/27 NA NA NA NA NA NA INPP5D,synonymous_variant,p.Ser543=,ENST00000359570,NM_005541.5;INPP5D,synonymous_variant,p.Ser544=,ENST00000445964,NM_001017915.3;INPP5D,synonymous_variant,p.Ser165=,ENST00000415617,;INPP5D,non_coding_transcript_exon_variant,,ENST00000472517,;INPP5D,upstream_gene_variant,,ENST00000465281,;INPP5D,upstream_gene_variant,,ENST00000480983,;INPP5D,downstream_gene_variant,,ENST00000493078,;INPP5D,upstream_gene_variant,,ENST00000493632,;,regulatory_region_variant,,ENSR00000640219,; G ENSG00000168918 ENST00000445964 Transcript synonymous_variant 1769/4902 1632/3570 544/1189 S tcA/tcG rs764213570 1 NA 1 INPP5D HGNC HGNC:6079 protein_coding YES CCDS74672.1 ENSP00000405338 Q92835.164 UPI000006FD6D NM_001017915.3 14/27 Gene3D:3.60.10.10,PDB-ENSP_mappings:6ibd.A,PDB-ENSP_mappings:6xy7.AAA,Pfam:PF03372,PANTHER:PTHR46051,PANTHER:PTHR46051:SF3,SMART:SM00128,Superfamily:SSF56219,CDD:cd09100 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . CAG . 1841.6 4.945e-05 7.573e-05 3.163e-05 NA NA NA 9.107e-05 NA NA 233169381 SH3BP4 23677 . GRCh38 chr2 235042079 235042079 + Missense_Mutation SNP C C T rs1395585336 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1310C>T p.Thr437Met p.T437M ENST00000409212 4/6 NA NA NA NA NA NA SH3BP4,missense_variant,p.Thr437Met,ENST00000409212,;SH3BP4,missense_variant,p.Thr437Met,ENST00000392011,NM_014521.3,NM_001371302.1,NM_001371305.1,NM_001371306.1;SH3BP4,missense_variant,p.Thr437Met,ENST00000344528,NM_001371303.1,NM_001371304.1;SH3BP4,downstream_gene_variant,,ENST00000416021,;SH3BP4,downstream_gene_variant,,ENST00000444916,;SH3BP4,downstream_gene_variant,,ENST00000446904,;SH3BP4,downstream_gene_variant,,ENST00000454947,; T ENSG00000130147 ENST00000409212 Transcript missense_variant 1817/5231 1310/2892 437/963 T/M aCg/aTg rs1395585336 1 NA 1 SH3BP4 HGNC HGNC:10826 protein_coding YES CCDS2513.1 ENSP00000386862 Q9P0V3.152 UPI000006DA47 tolerated(0.08) benign(0.251) 4/6 Gene3D:2.60.220.30,PROSITE_profiles:PS51145,PANTHER:PTHR15603,PANTHER:PTHR15603:SF3 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . ACG . 3993.6 3.983e-06 NA NA 9.93e-05 NA NA NA NA NA 235042079 COL6A3 1293 . GRCh38 chr2 237366876 237366876 + Frame_Shift_Del DEL C C - NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.5311del p.Val1771SerfsTer8 p.V1771Sfs*8 ENST00000295550 11/44 NA NA NA NA NA NA COL6A3,frameshift_variant,p.Val1771SerfsTer8,ENST00000295550,NM_004369.4;COL6A3,frameshift_variant,p.Val1565SerfsTer8,ENST00000353578,NM_057167.3;COL6A3,frameshift_variant,p.Val1565SerfsTer8,ENST00000409809,;COL6A3,frameshift_variant,p.Val1164SerfsTer8,ENST00000472056,NM_057166.5;COL6A3,frameshift_variant,p.Val1164SerfsTer8,ENST00000347401,;COL6A3,downstream_gene_variant,,ENST00000392003,NM_057164.5;COL6A3,downstream_gene_variant,,ENST00000392004,NM_057165.5; - ENSG00000163359 ENST00000295550 Transcript frameshift_variant 5553/10532 5311/9534 1771/3177 V/X Gtc/tc COSV55082747 1 NA -1 COL6A3 HGNC HGNC:2213 protein_coding YES CCDS33412.1 ENSP00000295550 P12111.228 D9ZGF2.77 UPI0000456F39 NM_004369.4 11/44 Gene3D:3.40.50.410,Pfam:PF00092,PROSITE_profiles:PS50234,PANTHER:PTHR24020,PANTHER:PTHR24020:SF13,SMART:SM00327,Superfamily:SSF53300 NA NA NA NA NA NA NA NA NA 1 NA NA NA NA HIGH 1 deletion 1 NA 1 NA 1 . GACC . 6581.6 NA NA NA NA NA NA NA NA NA 237366875 KLHL30 377007 . GRCh38 chr2 238144965 238144965 + Missense_Mutation SNP T T C novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.971T>C p.Leu324Pro p.L324P ENST00000409223 4/8 NA NA NA NA NA NA KLHL30,missense_variant,p.Leu324Pro,ENST00000409223,NM_198582.4;,regulatory_region_variant,,ENSR00001046882,; C ENSG00000168427 ENST00000409223 Transcript missense_variant 1132/3780 971/1737 324/578 L/P cTg/cCg 1 NA 1 KLHL30 HGNC HGNC:24770 protein_coding YES CCDS46555.2 ENSP00000386389 Q0D2K2.108 UPI00001D7DA5 NM_198582.4 deleterious(0) probably_damaging(0.989) 4/8 Gene3D:2.120.10.80,PIRSF:PIRSF037037,PANTHER:PTHR24412,PANTHER:PTHR24412:SF398,Superfamily:SSF117281 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . CTG . 1947.6 NA NA NA NA NA NA NA NA NA 238144965 ERFE 151176 . GRCh38 chr2 238165669 238165669 + Silent SNP C C T rs763158894 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.951C>T p.Gly317= p.G317= ENST00000546354 7/8 NA NA NA NA NA NA ERFE,synonymous_variant,p.Gly317=,ENST00000546354,NM_001291832.2;ERFE,synonymous_variant,p.Gly26=,ENST00000357303,;ERFE,synonymous_variant,p.Gly31=,ENST00000344233,;ILKAP,downstream_gene_variant,,ENST00000254654,NM_030768.3;ILKAP,downstream_gene_variant,,ENST00000450411,;ILKAP,downstream_gene_variant,,ENST00000612675,;ILKAP,downstream_gene_variant,,ENST00000622223,;ERFE,non_coding_transcript_exon_variant,,ENST00000473274,;ERFE,non_coding_transcript_exon_variant,,ENST00000479091,;ERFE,non_coding_transcript_exon_variant,,ENST00000481917,;ILKAP,downstream_gene_variant,,ENST00000463129,;ILKAP,downstream_gene_variant,,ENST00000465131,;ILKAP,downstream_gene_variant,,ENST00000466468,;ERFE,downstream_gene_variant,,ENST00000486834,; T ENSG00000178752 ENST00000546354 Transcript synonymous_variant 989/2939 951/1065 317/354 G ggC/ggT rs763158894,COSV54520725 1 NA 1 ERFE HGNC HGNC:26727 protein_coding YES CCDS77548.1 ENSP00000442304 Q4G0M1.92 UPI0000F07B77 NM_001291832.2 7/8 PROSITE_profiles:PS50871,PANTHER:PTHR24019,PANTHER:PTHR24019:SF11,Superfamily:SSF49842 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA LOW 1 SNV 1 NA 0,1 NA NA . GCG . 1313.6 4.05e-05 0.0002952 4.07e-05 NA NA NA 1.829e-05 0.0002331 4.438e-05 238165669 ANKMY1 51281 . GRCh38 chr2 240554866 240554866 + Missense_Mutation SNP C C A novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.336G>T p.Glu112Asp p.E112D ENST00000401804 3/18 NA NA NA NA NA NA ANKMY1,missense_variant,p.Glu23Asp,ENST00000405002,NM_001354026.1;ANKMY1,missense_variant,p.Glu112Asp,ENST00000401804,NM_001354023.2,NM_001282771.3;ANKMY1,missense_variant,p.Glu23Asp,ENST00000272972,NM_001354024.2,NM_016552.5;ANKMY1,missense_variant,p.Glu23Asp,ENST00000391987,;ANKMY1,missense_variant,p.Glu191Asp,ENST00000403283,NM_001308375.2;ANKMY1,missense_variant,p.Glu112Asp,ENST00000361678,NM_001354025.2,NM_017844.4;ANKMY1,missense_variant,p.Glu112Asp,ENST00000373318,NM_001282780.2;ANKMY1,missense_variant,p.Glu112Asp,ENST00000406958,NM_001282781.2;ANKMY1,missense_variant,p.Glu112Asp,ENST00000405523,;ANKMY1,missense_variant,p.Glu23Asp,ENST00000418708,;ANKMY1,missense_variant,p.Glu65Asp,ENST00000441168,;ANKMY1,intron_variant,,ENST00000443318,;ANKMY1,downstream_gene_variant,,ENST00000411765,;AC124862.1,upstream_gene_variant,,ENST00000654460,;ANKMY1,splice_region_variant,,ENST00000462004,;ANKMY1,splice_region_variant,,ENST00000418505,;ANKMY1,splice_region_variant,,ENST00000496300,;ANKMY1,splice_region_variant,,ENST00000464991,;ANKMY1,splice_region_variant,,ENST00000477316,;ANKMY1,non_coding_transcript_exon_variant,,ENST00000459901,;ANKMY1,intron_variant,,ENST00000484526,; A ENSG00000144504 ENST00000401804 Transcript missense_variant,splice_region_variant 475/3232 336/3093 112/1030 E/D gaG/gaT 1 NA -1 ANKMY1 HGNC HGNC:20987 protein_coding YES CCDS63185.1 ENSP00000385887 J3KQ21.66 UPI0000209839 NM_001354023.2,NM_001282771.3 deleterious(0.01) benign(0.327) 3/18 PANTHER:PTHR15897,SMART:SM00698,Superfamily:SSF82185 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CCT . 813.6 NA NA NA NA NA NA NA NA NA 240554866 KIF1A 547 . GRCh38 chr2 240740073 240740073 + Missense_Mutation SNP G G A rs201684653 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3886C>T p.Arg1296Cys p.R1296C ENST00000404283 37/50 NA NA NA NA NA NA KIF1A,missense_variant,p.Arg1296Cys,ENST00000498729,NM_001244008.2,NM_001379631.1;KIF1A,missense_variant,p.Arg1195Cys,ENST00000649096,NM_001379653.1,NM_001379640.1,NM_001379641.1,NM_004321.8,NM_001379637.1,NM_001379651.1;KIF1A,missense_variant,p.Arg1195Cys,ENST00000320389,NM_001379639.1;KIF1A,missense_variant,p.Arg1204Cys,ENST00000648364,NM_001320705.2;KIF1A,missense_variant,p.Arg1204Cys,ENST00000648680,NM_001330289.2,NM_001379634.1;KIF1A,missense_variant,p.Arg1195Cys,ENST00000647731,NM_001379649.1,NM_001379632.1,NM_001379642.1,NM_001379648.1;KIF1A,missense_variant,p.Arg1287Cys,ENST00000650130,NM_001379645.1;KIF1A,missense_variant,p.Arg1287Cys,ENST00000648129,NM_001379633.1;KIF1A,missense_variant,p.Arg1195Cys,ENST00000647885,NM_001379636.1;KIF1A,missense_variant,p.Arg1229Cys,ENST00000649306,NM_001379635.1,NM_001330290.2,NM_001379646.1;KIF1A,missense_variant,p.Arg1296Cys,ENST00000404283,NM_001379638.1;KIF1A,missense_variant,p.Arg1195Cys,ENST00000650053,NM_001379650.1;KIF1A,missense_variant,p.Arg941Cys,ENST00000648047,;KIF1A,missense_variant,p.Arg219Cys,ENST00000431776,;KIF1A,downstream_gene_variant,,ENST00000675126,;KIF1A,non_coding_transcript_exon_variant,,ENST00000649190,;KIF1A,downstream_gene_variant,,ENST00000415042,;KIF1A,non_coding_transcript_exon_variant,,ENST00000492812,;KIF1A,non_coding_transcript_exon_variant,,ENST00000650430,;KIF1A,non_coding_transcript_exon_variant,,ENST00000649064,;KIF1A,upstream_gene_variant,,ENST00000494452,; A ENSG00000130294 ENST00000404283 Transcript missense_variant 4133/5647 3886/5400 1296/1799 R/C Cgc/Tgc rs201684653,COSV100242132 1 NA -1 KIF1A HGNC HGNC:888 protein_coding YES ENSP00000384231 Q12756.185 UPI00017221A5 NM_001379638.1 deleterious(0) possibly_damaging(0.736) 37/50 Pfam:PF12473 2e-04 NA 0.0014 NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 5 NA 1,1 NA 1 . CGC . 5704.6 2.883e-05 NA 6.557e-05 NA 6.792e-05 NA 2.175e-05 NA 3.903e-05 240740073 ATG4B 23192 . GRCh38 chr2 241655330 241655330 + Missense_Mutation SNP G G A rs571586050 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.445G>A p.Ala149Thr p.A149T ENST00000404914 6/13 NA NA NA NA NA NA ATG4B,missense_variant,p.Ala149Thr,ENST00000405546,NM_178326.3;ATG4B,missense_variant,p.Ala149Thr,ENST00000404914,NM_013325.5;ATG4B,missense_variant,p.Ala75Thr,ENST00000402096,;ATG4B,intron_variant,,ENST00000400771,;ATG4B,downstream_gene_variant,,ENST00000419606,;ATG4B,downstream_gene_variant,,ENST00000625810,;ATG4B,non_coding_transcript_exon_variant,,ENST00000430617,;ATG4B,downstream_gene_variant,,ENST00000491867,;ATG4B,3_prime_UTR_variant,,ENST00000344376,;ATG4B,3_prime_UTR_variant,,ENST00000400772,;ATG4B,non_coding_transcript_exon_variant,,ENST00000482507,;ATG4B,non_coding_transcript_exon_variant,,ENST00000494465,;ATG4B,non_coding_transcript_exon_variant,,ENST00000493618,;ATG4B,non_coding_transcript_exon_variant,,ENST00000425239,;ATG4B,non_coding_transcript_exon_variant,,ENST00000468018,;ATG4B,non_coding_transcript_exon_variant,,ENST00000465399,;ATG4B,non_coding_transcript_exon_variant,,ENST00000429899,;ATG4B,intron_variant,,ENST00000483778,;ATG4B,downstream_gene_variant,,ENST00000415107,;ATG4B,downstream_gene_variant,,ENST00000475195,;ATG4B,downstream_gene_variant,,ENST00000479554,; A ENSG00000168397 ENST00000404914 Transcript missense_variant 467/2797 445/1182 149/393 A/T Gcc/Acc rs571586050,COSV60349391 1 NA 1 ATG4B HGNC HGNC:20790 protein_coding YES CCDS46564.1 ENSP00000384259 Q9Y4P1.182 UPI00001AF16F NM_013325.5 deleterious(0.02) probably_damaging(0.978) 6/13 PDB-ENSP_mappings:2cy7.A,PDB-ENSP_mappings:2d1i.A,PDB-ENSP_mappings:2d1i.B,PDB-ENSP_mappings:2z0d.A,PDB-ENSP_mappings:2z0e.A,PDB-ENSP_mappings:2zzp.A,Pfam:PF03416,PANTHER:PTHR22624,PANTHER:PTHR22624:SF39,Superfamily:SSF54001 2e-04 NA 0.0014 NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 1 NA 0,1 NA NA . CGC . 4328.6 4.147e-06 NA NA NA NA NA 9.168e-06 NA NA 241655330 CNTN4 152330 . GRCh38 chr3 3040171 3040171 + Silent SNP C C T rs759842301 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2298C>T p.Ser766= p.S766= ENST00000397461 19/24 NA NA NA NA NA NA CNTN4,synonymous_variant,p.Ser766=,ENST00000397461,NM_001206955.1;CNTN4,synonymous_variant,p.Ser766=,ENST00000418658,NM_001350095.1,NM_175607.3;CNTN4,synonymous_variant,p.Ser766=,ENST00000427331,;CNTN4,synonymous_variant,p.Ser438=,ENST00000397459,NM_175613.2,NM_001206956.1;CNTN4-AS1,non_coding_transcript_exon_variant,,ENST00000442749,;CNTN4-AS1,downstream_gene_variant,,ENST00000629672,;CNTN4,3_prime_UTR_variant,,ENST00000427741,;CNTN4,non_coding_transcript_exon_variant,,ENST00000484686,;CNTN4,downstream_gene_variant,,ENST00000430505,; T ENSG00000144619 ENST00000397461 Transcript synonymous_variant 2682/5198 2298/3081 766/1026 S agC/agT rs759842301,COSV61870624 1 NA 1 CNTN4 HGNC HGNC:2174 protein_coding YES CCDS43041.1 ENSP00000380602 Q8IWV2.149 UPI000007446C NM_001206955.1 19/24 Gene3D:2.60.40.10,PROSITE_profiles:PS50853,PANTHER:PTHR12231,PANTHER:PTHR12231:SF229,SMART:SM00060,Superfamily:SSF49265,CDD:cd00063 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA LOW NA SNV 5 NA 0,1 NA NA . GCG . 3179.6 7.953e-06 NA NA NA 5.437e-05 NA 8.792e-06 NA NA 3040171 RAD18 56852 . GRCh38 chr3 8902415 8902415 + Missense_Mutation SNP T T A rs200199070 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1133A>T p.Asp378Val p.D378V ENST00000264926 10/13 NA NA NA NA NA NA RAD18,missense_variant,p.Asp378Val,ENST00000264926,NM_020165.4;RAD18,missense_variant,p.Asp15Val,ENST00000427329,;RAD18,upstream_gene_variant,,ENST00000429790,;RAD18,3_prime_UTR_variant,,ENST00000415439,;RAD18,non_coding_transcript_exon_variant,,ENST00000473069,; A ENSG00000070950 ENST00000264926 Transcript missense_variant 1220/5857 1133/1488 378/495 D/V gAt/gTt rs200199070 1 NA -1 RAD18 HGNC HGNC:18278 protein_coding YES CCDS2571.1 ENSP00000264926 Q9NS91.178 UPI000013D592 NM_020165.4 tolerated(0.13) benign(0.05) 10/13 PANTHER:PTHR14134,PANTHER:PTHR14134:SF2 NA NA NA NA NA NA NA NA 0.0001163 NA NA NA NA MODERATE 1 SNV 1 NA NA NA . ATC . 1297.6 4.434e-05 NA NA NA NA NA 9.765e-05 NA NA 8902415 SETD5 55209 . GRCh38 chr3 9475901 9475901 + Missense_Mutation SNP C C T rs771249741 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4196C>T p.Ser1399Leu p.S1399L ENST00000407969 21/21 NA NA NA NA NA NA SETD5,missense_variant,p.Ser1380Leu,ENST00000402198,NM_001080517.3,NM_001349451.2,NM_001292043.2;SETD5,missense_variant,p.Ser1380Leu,ENST00000406341,;SETD5,missense_variant,p.Ser1399Leu,ENST00000407969,;SETD5,intron_variant,,ENST00000399686,;SETD5,downstream_gene_variant,,ENST00000421188,;SETD5,downstream_gene_variant,,ENST00000479538,;SETD5,3_prime_UTR_variant,,ENST00000666307,;SETD5,3_prime_UTR_variant,,ENST00000665872,;SETD5,3_prime_UTR_variant,,ENST00000670063,;SETD5,3_prime_UTR_variant,,ENST00000663774,;SETD5,3_prime_UTR_variant,,ENST00000413704,;SETD5,non_coding_transcript_exon_variant,,ENST00000493918,;SETD5,non_coding_transcript_exon_variant,,ENST00000466242,;SETD5,downstream_gene_variant,,ENST00000459941,;SETD5,downstream_gene_variant,,ENST00000466826,;SETD5,downstream_gene_variant,,ENST00000486465,;SETD5,downstream_gene_variant,,ENST00000492939,; T ENSG00000168137 ENST00000407969 Transcript missense_variant 4210/6463 4196/4386 1399/1461 S/L tCg/tTg rs771249741 1 NA 1 SETD5 HGNC HGNC:25566 protein_coding YES ENSP00000384114 E7EWN3.69 UPI0001610EA1 tolerated_low_confidence(0.35) probably_damaging(0.968) 21/21 PANTHER:PTHR46462,PANTHER:PTHR46462:SF1,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA 1 . TCG . 7358.6 8.024e-06 NA NA NA 5.563e-05 NA 8.849e-06 NA NA 9475901 BRPF1 7862 . GRCh38 chr3 9739123 9739123 + Nonsense_Mutation SNP C C T NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.718C>T p.Gln240Ter p.Q240* ENST00000672515 2/12 NA NA NA NA NA NA BRPF1,stop_gained,p.Gln242Ter,ENST00000383829,NM_001003694.2;BRPF1,stop_gained,p.Gln242Ter,ENST00000424362,NM_001319050.1;BRPF1,stop_gained,p.Gln242Ter,ENST00000457855,NM_004634.2;BRPF1,stop_gained,p.Gln242Ter,ENST00000433861,NM_001319049.1;BRPF1,stop_gained,p.Gln240Ter,ENST00000672515,;BRPF1,downstream_gene_variant,,ENST00000420291,;BRPF1,downstream_gene_variant,,ENST00000426583,;BRPF1,stop_gained,p.Gln242Ter,ENST00000673551,;BRPF1,stop_gained,p.Gln242Ter,ENST00000672126,;BRPF1,upstream_gene_variant,,ENST00000497565,; T ENSG00000156983 ENST00000672515 Transcript stop_gained 716/3881 718/3741 240/1246 Q/* Cag/Tag COSV100121300 1 NA 1 BRPF1 HGNC HGNC:14255 protein_coding YES ENSP00000499951 A0A5F9ZH11.3 UPI00123537E7 2/12 Pfam:PF10513,PANTHER:PTHR13793,PANTHER:PTHR13793:SF85 NA NA NA NA NA NA NA NA NA 1 NA NA NA NA HIGH 1 SNV NA NA 1 NA 1 . GCA . 4634.6 NA NA NA NA NA NA NA NA NA 9739123 CRELD1 78987 . GRCh38 chr3 9943943 9943943 + Silent SNP C C A NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1090C>A p.Arg364= p.R364= ENST00000326434 11/12 NA NA NA NA NA NA CRELD1,synonymous_variant,p.Arg364=,ENST00000326434,NM_001374317.1,NM_001031717.4,NM_001374318.1;CRELD1,intron_variant,,ENST00000383811,NM_001374316.1,NM_015513.6,NM_001374320.1;CRELD1,intron_variant,,ENST00000397170,;CRELD1,intron_variant,,ENST00000435417,;CRELD1,intron_variant,,ENST00000452070,NM_001077415.3,NM_001374319.1;CRELD1,intron_variant,,ENST00000673935,;PRRT3,downstream_gene_variant,,ENST00000411976,NM_001318871.1;PRRT3,downstream_gene_variant,,ENST00000412055,NM_207351.5;PRRT3-AS1,upstream_gene_variant,,ENST00000431558,;CRELD1,intron_variant,,ENST00000489674,;CRELD1,intron_variant,,ENST00000482691,;CRELD1,intron_variant,,ENST00000673635,;AC018809.3,intron_variant,,ENST00000673677,;CRELD1,intron_variant,,ENST00000673737,;CRELD1,intron_variant,,ENST00000674057,;AC018809.3,intron_variant,,ENST00000674067,;PRRT3,downstream_gene_variant,,ENST00000295984,;CRELD1,downstream_gene_variant,,ENST00000414117,;CRELD1,downstream_gene_variant,,ENST00000467713,; A ENSG00000163703 ENST00000326434 Transcript synonymous_variant 1174/1994 1090/1269 364/422 R Cga/Aga COSV55976253 1 NA 1 CRELD1 HGNC HGNC:14630 protein_coding YES CCDS33693.1 ENSP00000321856 Q96HD1.160 UPI000049DF8B NM_001374317.1,NM_001031717.4,NM_001374318.1 11/12 PANTHER:PTHR24034,PANTHER:PTHR24034:SF114 NA NA NA NA NA NA NA NA NA 1 NA NA NA NA LOW 1 SNV 1 NA 1 NA 1 . CCG . 1958.6 NA NA NA NA NA NA NA NA NA 9943943 SLC6A1 6529 . GRCh38 chr3 11017360 11017360 + Missense_Mutation SNP G G A rs766945941 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.149G>A p.Arg50His p.R50H ENST00000644803 1/14 NA NA NA NA NA NA SLC6A1,missense_variant,p.Arg50His,ENST00000643396,;SLC6A1,missense_variant,p.Arg50His,ENST00000645974,;SLC6A1,missense_variant,p.Arg50His,ENST00000646570,;SLC6A1,missense_variant,p.Arg50His,ENST00000642515,;SLC6A1,missense_variant,p.Arg50His,ENST00000642820,;SLC6A1,missense_variant,p.Arg50His,ENST00000645054,;SLC6A1,missense_variant,p.Arg50His,ENST00000646060,;SLC6A1,missense_variant,p.Arg50His,ENST00000642735,;SLC6A1,missense_variant,p.Arg50His,ENST00000646924,;SLC6A1,missense_variant,p.Arg50His,ENST00000287766,NM_003042.4;SLC6A1,missense_variant,p.Arg50His,ENST00000645029,;SLC6A1,missense_variant,p.Arg50His,ENST00000642767,NM_001348250.1;SLC6A1,missense_variant,p.Arg50His,ENST00000646702,;SLC6A1,missense_variant,p.Arg50His,ENST00000643498,;SLC6A1,missense_variant,p.Arg50His,ENST00000645592,;SLC6A1,missense_variant,p.Arg50His,ENST00000646022,;SLC6A1,missense_variant,p.Arg50His,ENST00000647194,;SLC6A1,missense_variant,p.Arg50His,ENST00000642201,;SLC6A1,missense_variant,p.Arg50His,ENST00000644803,;SLC6A1,missense_variant,p.Arg50His,ENST00000642639,;SLC6A1,missense_variant,p.Arg50His,ENST00000647384,;SLC6A1,missense_variant,p.Arg50His,ENST00000646088,;SLC6A1,missense_variant,p.Arg50His,ENST00000644175,;SLC6A1,intron_variant,,ENST00000425938,;SLC6A1,intron_variant,,ENST00000644314,NM_001348251.1;SLC6A1,intron_variant,,ENST00000645281,;SLC6A1,intron_variant,,ENST00000645776,NM_001348253.1;SLC6A1,intron_variant,,ENST00000646072,NM_001348252.1;SLC6A1,intron_variant,,ENST00000646487,;SLC6A1,upstream_gene_variant,,ENST00000645985,;SLC6A1-AS1,intron_variant,,ENST00000414969,;SLC6A1,missense_variant,p.Arg50His,ENST00000645575,;SLC6A1,missense_variant,p.Arg50His,ENST00000460480,;SLC6A1,non_coding_transcript_exon_variant,,ENST00000646886,;SLC6A1,non_coding_transcript_exon_variant,,ENST00000462473,;SLC6A1,non_coding_transcript_exon_variant,,ENST00000646035,;SLC6A1,non_coding_transcript_exon_variant,,ENST00000642831,;SLC6A1,upstream_gene_variant,,ENST00000642766,;SLC6A1,upstream_gene_variant,,ENST00000643326,;SLC6A1,upstream_gene_variant,,ENST00000645598,; A ENSG00000157103 ENST00000644803 Transcript missense_variant 280/4093 149/1827 50/608 R/H cGc/cAc rs766945941 1 NA 1 SLC6A1 HGNC HGNC:11042 protein_coding YES ENSP00000494469 A0A2R8YDD5.11 UPI000D18FACA deleterious(0.03) benign(0.007) 1/14 Pfam:PF00209,PROSITE_profiles:PS50267,PANTHER:PTHR11616,PANTHER:PTHR11616:SF138,Superfamily:SSF161070,CDD:cd11506 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE NA SNV NA NA NA 1 . CGC . 7623.6 1.193e-05 NA 8.673e-05 NA NA NA NA NA NA 11017360 ATG7 10533 . GRCh38 chr3 11360684 11360684 + Missense_Mutation SNP C C A novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1583C>A p.Pro528His p.P528H ENST00000354449 14/19 NA NA NA NA NA NA ATG7,missense_variant,p.Pro528His,ENST00000354449,NM_001349238.2,NM_001349232.2,NM_001349233.2,NM_001349235.2,NM_001349234.2,NM_006395.3,NM_001349237.2,NM_001349236.2;ATG7,missense_variant,p.Pro528His,ENST00000354956,NM_001136031.3;ATG7,missense_variant,p.Pro489His,ENST00000446450,NM_001144912.2;ATG7,upstream_gene_variant,,ENST00000414717,;ATG7,upstream_gene_variant,,ENST00000427759,;ATG7,upstream_gene_variant,,ENST00000446110,;ATG7,non_coding_transcript_exon_variant,,ENST00000467121,;ATG7,downstream_gene_variant,,ENST00000424071,; A ENSG00000197548 ENST00000354449 Transcript missense_variant 1608/4959 1583/2112 528/703 P/H cCt/cAt 1 NA 1 ATG7 HGNC HGNC:16935 protein_coding YES CCDS2605.1 ENSP00000346437 O95352.173 UPI00000705C7 NM_001349238.2,NM_001349232.2,NM_001349233.2,NM_001349235.2,NM_001349234.2,NM_006395.3,NM_001349237.2,NM_001349236.2 tolerated(0.1) benign(0.169) 14/19 Gene3D:3.40.50.720,Pfam:PF00899,PANTHER:PTHR10953,PANTHER:PTHR10953:SF3,Superfamily:SSF69572,TIGRFAM:TIGR01381,CDD:cd01486 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CCT . 2341.6 NA NA NA NA NA NA NA NA NA 11360684 SYN2 0 . GRCh38 chr3 12004665 12004665 + Silent SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.114G>A p.Pro38= p.P38= ENST00000621198 1/13 NA NA NA NA NA NA SYN2,synonymous_variant,p.Pro38=,ENST00000620175,NM_003178.5;SYN2,synonymous_variant,p.Pro38=,ENST00000621198,NM_133625.6;,regulatory_region_variant,,ENSR00000148579,; A ENSG00000157152 ENST00000621198 Transcript synonymous_variant 278/3320 114/1749 38/582 P ccG/ccA 1 NA 1 SYN2 HGNC HGNC:11495 protein_coding YES CCDS74900.1 ENSP00000480050 Q92777.163 UPI0000167B8A NM_133625.6 1/13 PANTHER:PTHR10841,PANTHER:PTHR10841:SF20,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . CGC . 1364.6 NA NA NA NA NA NA NA NA NA 12004665 CAND2 23066 . GRCh38 chr3 12817531 12817531 + Silent SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2599C>T p.Leu867= p.L867= ENST00000456430 10/15 NA NA NA NA NA NA CAND2,synonymous_variant,p.Leu867=,ENST00000456430,NM_001162499.2;CAND2,synonymous_variant,p.Leu774=,ENST00000295989,NM_012298.3;CAND2,3_prime_UTR_variant,,ENST00000650119,;CAND2,downstream_gene_variant,,ENST00000446928,;,regulatory_region_variant,,ENSR00000677651,; T ENSG00000144712 ENST00000456430 Transcript synonymous_variant 2640/4573 2599/3711 867/1236 L Ctg/Ttg 1 NA 1 CAND2 HGNC HGNC:30689 protein_coding YES CCDS54554.1 ENSP00000387641 O75155.159 UPI00005795FA NM_001162499.2 10/15 PANTHER:PTHR12696,PANTHER:PTHR12696:SF2,Gene3D:1.25.10.10,Superfamily:SSF48371 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . CCT . 4418.6 NA NA NA NA NA NA NA NA NA 12817531 IQSEC1 9922 . GRCh38 chr3 12922211 12922211 + Missense_Mutation SNP T T C rs1467465738 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2086A>G p.Met696Val p.M696V ENST00000648114 7/16 NA NA NA NA NA NA IQSEC1,missense_variant,p.Met588Val,ENST00000613206,NM_001134382.3;IQSEC1,missense_variant,p.Met603Val,ENST00000646269,;IQSEC1,missense_variant,p.Met602Val,ENST00000273221,NM_014869.8;IQSEC1,missense_variant,p.Met696Val,ENST00000648114,NM_001376938.2;IQSEC1,missense_variant,p.Met480Val,ENST00000618604,NM_001330619.3;IQSEC1,missense_variant,p.Met480Val,ENST00000648386,;IQSEC1,missense_variant,p.Met606Val,ENST00000647458,; C ENSG00000144711 ENST00000648114 Transcript missense_variant 2385/4198 2086/3669 696/1222 M/V Atg/Gtg rs1467465738 1 NA -1 IQSEC1 HGNC HGNC:29112 protein_coding YES ENSP00000497029 A0A3B3IRZ4.9 UPI0005D025F7 NM_001376938.2 deleterious(0.01) possibly_damaging(0.511) 7/16 Gene3D:1.10.1000.11,Pfam:PF01369,PROSITE_profiles:PS50190,PANTHER:PTHR10663,PANTHER:PTHR10663:SF327,SMART:SM00222,Superfamily:SSF48425,CDD:cd00171 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV NA NA NA 1 . ATG . 3092.6 NA NA NA NA NA NA NA NA NA 12922211 GRIP2 0 . GRCh38 chr3 14493795 14493795 + Missense_Mutation SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3293G>A p.Cys1098Tyr p.C1098Y ENST00000619221 25/25 NA NA NA NA NA NA GRIP2,missense_variant,p.Cys1098Tyr,ENST00000619221,;GRIP2,missense_variant,p.Cys1001Tyr,ENST00000621039,NM_001080423.4;GRIP2,missense_variant,p.Cys1006Tyr,ENST00000637182,;SLC6A6,downstream_gene_variant,,ENST00000613060,NM_001134367.3;SLC6A6,downstream_gene_variant,,ENST00000622186,NM_003043.5;GRIP2,3_prime_UTR_variant,,ENST00000430219,;SLC6A6,downstream_gene_variant,,ENST00000618278,;SLC6A6,downstream_gene_variant,,ENST00000649500,; T ENSG00000144596 ENST00000619221 Transcript missense_variant 3293/7977 3293/3423 1098/1140 C/Y tGc/tAc 1 NA -1 GRIP2 HGNC HGNC:23841 protein_coding YES ENSP00000480660 A0A087WX15.36 UPI0001DD380B deleterious(0) probably_damaging(0.936) 25/25 Gene3D:2.30.42.10,Pfam:PF00595,PROSITE_profiles:PS50106,PANTHER:PTHR46227,PANTHER:PTHR46227:SF4,SMART:SM00228,Superfamily:SSF50156,CDD:cd00992 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE NA SNV 5 NA NA NA . GCA . 7617.6 NA NA NA NA NA NA NA NA NA 14493795 GRIP2 0 . GRCh38 chr3 14494920 14494921 + Frame_Shift_Ins INS - - T novel NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3183dup p.Gly1062ArgfsTer10 p.G1062Rfs*10 ENST00000619221 24/25 NA NA NA NA NA NA GRIP2,frameshift_variant,p.Gly1062ArgfsTer10,ENST00000619221,;GRIP2,frameshift_variant,p.Gly965ArgfsTer10,ENST00000621039,NM_001080423.4;GRIP2,frameshift_variant,p.Gly970ArgfsTer10,ENST00000637182,;GRIP2,3_prime_UTR_variant,,ENST00000430219,; T ENSG00000144596 ENST00000619221 Transcript frameshift_variant 3183-3184/7977 3183-3184/3423 1061-1062/1140 -/X -/A 1 NA -1 GRIP2 HGNC HGNC:23841 protein_coding YES ENSP00000480660 A0A087WX15.36 UPI0001DD380B 24/25 Gene3D:2.30.42.10,Pfam:PF00595,PROSITE_profiles:PS50106,PANTHER:PTHR46227,PANTHER:PTHR46227:SF4,SMART:SM00228,Superfamily:SSF50156,CDD:cd00992 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 insertion 5 NA NA NA . CCT . 3968.64 NA NA NA NA NA NA NA NA NA 14494920 GRIP2 0 . GRCh38 chr3 14525874 14525874 + Missense_Mutation SNP G G A rs753399269 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.389C>T p.Ala130Val p.A130V ENST00000619221 3/25 NA NA NA NA NA NA GRIP2,missense_variant,p.Ala130Val,ENST00000619221,;GRIP2,missense_variant,p.Ala33Val,ENST00000621039,NM_001080423.4;GRIP2,missense_variant,p.Ala38Val,ENST00000637182,;GRIP2,missense_variant,p.Ala40Val,ENST00000637939,;GRIP2,non_coding_transcript_exon_variant,,ENST00000422481,;GRIP2,non_coding_transcript_exon_variant,,ENST00000413414,;,regulatory_region_variant,,ENSR00000678246,; A ENSG00000144596 ENST00000619221 Transcript missense_variant 389/7977 389/3423 130/1140 A/V gCg/gTg rs753399269 1 NA -1 GRIP2 HGNC HGNC:23841 protein_coding YES ENSP00000480660 A0A087WX15.36 UPI0001DD380B tolerated_low_confidence(0.16) benign(0.026) 3/25 PANTHER:PTHR46227,PANTHER:PTHR46227:SF4 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . CGC . 5304.6 5.863e-06 NA NA NA NA NA NA NA 4.3e-05 14525874 NR2C2 7182 . GRCh38 chr3 15042842 15042842 + Missense_Mutation SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1682G>A p.Arg561Gln p.R561Q ENST00000617312 14/14 NA NA NA NA NA NA NR2C2,missense_variant,p.Arg561Gln,ENST00000617312,;NR2C2,missense_variant,p.Arg542Gln,ENST00000425241,NM_001291694.2;NR2C2,missense_variant,p.Arg561Gln,ENST00000323373,NM_003298.5;NR2C2,missense_variant,p.Arg542Gln,ENST00000393102,;NR2C2,missense_variant,p.Arg542Gln,ENST00000406272,;NR2C2,intron_variant,,ENST00000413194,;NR2C2,intron_variant,,ENST00000439011,;NR2C2,non_coding_transcript_exon_variant,,ENST00000478572,;MRPS25,non_coding_transcript_exon_variant,,ENST00000496484,;MRPS25,downstream_gene_variant,,ENST00000474866,;NR2C2,non_coding_transcript_exon_variant,,ENST00000475707,;NR2C2,downstream_gene_variant,,ENST00000495282,;,regulatory_region_variant,,ENSR00001062847,; A ENSG00000177463 ENST00000617312 Transcript missense_variant 1682/8113 1682/1848 561/615 R/Q cGg/cAg 1 NA 1 NR2C2 HGNC HGNC:7972 protein_coding YES CCDS2621.1 ENSP00000483059 P49116.190 F2YGU2.78 UPI00001AF3B4 tolerated(0.13) probably_damaging(0.991) 14/14 CDD:cd06952,Pfam:PF00104,Gene3D:1.10.565.10,SMART:SM00430,Superfamily:SSF48508,PROSITE_profiles:PS51843,PANTHER:PTHR24083:SF48,PANTHER:PTHR24083,Prints:PR00398 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CGG . 1044.6 NA NA NA NA NA NA NA NA NA 15042842 PLCL2 23228 . GRCh38 chr3 16885062 16885062 + Missense_Mutation SNP G G A rs1228277096 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.23G>A p.Gly8Asp p.G8D ENST00000615277 1/6 NA NA NA NA NA NA PLCL2,missense_variant,p.Gly8Asp,ENST00000615277,NM_001144382.2;PLCL2,intron_variant,,ENST00000460467,;,regulatory_region_variant,,ENSR00000678863,;,TF_binding_site_variant,,ENSM00205607911,; A ENSG00000154822 ENST00000615277 Transcript missense_variant 108/4161 23/3384 8/1127 G/D gGc/gAc rs1228277096 1 NA 1 PLCL2 HGNC HGNC:9064 protein_coding YES CCDS74911.1 ENSP00000478458 Q9UPR0.168 UPI0000242D01 NM_001144382.2 tolerated_low_confidence(0.74) unknown(0) 1/6 Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . GGC . 754.03 NA NA NA NA NA NA NA NA NA 16885062 SATB1 6304 . GRCh38 chr3 18349194 18349194 + Silent SNP G G A rs202103426 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2364C>T p.Asp788= p.D788= ENST00000417717 12/12 NA NA NA NA NA NA SATB1,synonymous_variant,p.Asp756=,ENST00000338745,NM_001322874.2,NM_001322872.2,NM_001322876.2,NM_001322873.2,NM_002971.6,NM_001322875.1;SATB1,synonymous_variant,p.Asp788=,ENST00000417717,NM_001322871.2,NM_001195470.3;SATB1,synonymous_variant,p.Asp756=,ENST00000454909,NM_001131010.4;TBC1D5,intron_variant,,ENST00000414318,;SATB1,non_coding_transcript_exon_variant,,ENST00000606296,;SATB1,downstream_gene_variant,,ENST00000467628,;SATB1,downstream_gene_variant,,ENST00000476178,; A ENSG00000182568 ENST00000417717 Transcript synonymous_variant 3335/4589 2364/2388 788/795 D gaC/gaT rs202103426 1 NA -1 SATB1 HGNC HGNC:10541 protein_coding YES CCDS56242.1 ENSP00000399518 Q01826.196 UPI0000E1FB67 NM_001322871.2,NM_001195470.3 12/12 PANTHER:PTHR15116,PANTHER:PTHR15116:SF14 2e-04 NA NA NA NA 0.001 NA NA 0.0003488 NA NA NA NA LOW 1 SNV 1 NA NA 1 . TGT . 1252.6 0.0001434 0.0001232 5.785e-05 NA NA NA 0.0002733 0.0001632 NA 18349194 SATB1 6304 . GRCh38 chr3 18394549 18394549 + Silent SNP G G A rs751682517 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1119C>T p.Ser373= p.S373= ENST00000417717 7/12 NA NA NA NA NA NA SATB1,synonymous_variant,p.Ser373=,ENST00000338745,NM_001322874.2,NM_001322872.2,NM_001322876.2,NM_001322873.2,NM_002971.6,NM_001322875.1;SATB1,synonymous_variant,p.Ser373=,ENST00000417717,NM_001322871.2,NM_001195470.3;SATB1,synonymous_variant,p.Ser373=,ENST00000454909,NM_001131010.4;SATB1,downstream_gene_variant,,ENST00000440737,;SATB1,downstream_gene_variant,,ENST00000475083,;TBC1D5,intron_variant,,ENST00000414318,;,regulatory_region_variant,,ENSR00000679188,; A ENSG00000182568 ENST00000417717 Transcript synonymous_variant 2090/4589 1119/2388 373/795 S tcC/tcT rs751682517,COSV58670605 1 NA -1 SATB1 HGNC HGNC:10541 protein_coding YES CCDS56242.1 ENSP00000399518 Q01826.196 UPI0000E1FB67 NM_001322871.2,NM_001195470.3 7/12 PROSITE_profiles:PS51042,PANTHER:PTHR15116,PANTHER:PTHR15116:SF14,Gene3D:1.10.260.40,Pfam:PF02376,SMART:SM01109,Superfamily:SSF47413 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA LOW 1 SNV 1 NA 0,1 NA 1 . CGG . 1433.6 7.954e-06 6.152e-05 NA NA NA NA 8.792e-06 NA NA 18394549 KCNH8 131096 . GRCh38 chr3 19281320 19281320 + Frame_Shift_Del DEL A A - rs1559457175 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.438del p.Glu147LysfsTer40 p.E147Kfs*40 ENST00000328405 3/16 NA NA NA NA NA NA KCNH8,frameshift_variant,p.Glu147LysfsTer40,ENST00000328405,NM_144633.3;KCNH8,frameshift_variant,p.Glu147LysfsTer40,ENST00000452398,; - ENSG00000183960 ENST00000328405 Transcript frameshift_variant 643/5077 433/3324 145/1107 K/X Aaa/aa rs1559457175 1 NA 1 KCNH8 HGNC HGNC:18864 protein_coding YES CCDS2632.1 ENSP00000328813 Q96L42.167 UPI0000167D12 NM_144633.3 3/16 PROSITE_profiles:PS50113,PANTHER:PTHR10217,PANTHER:PTHR10217:SF380 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 5 NA NA . ATAA . 1330.6 NA NA NA NA NA NA NA NA NA 19281319 RPL15 6138 . GRCh38 chr3 23919357 23919357 + Silent SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.471G>A p.Lys157= p.K157= ENST00000611050 4/4 NA NA NA NA NA NA RPL15,synonymous_variant,p.Lys157=,ENST00000611050,NM_001253379.2;RPL15,synonymous_variant,p.Lys157=,ENST00000413699,NM_001253380.2,NM_001253382.2,NM_001253383.3;RPL15,synonymous_variant,p.Lys157=,ENST00000307839,NM_002948.5;RPL15,synonymous_variant,p.Lys157=,ENST00000415719,;RPL15,synonymous_variant,p.Lys157=,ENST00000644185,;RPL15,synonymous_variant,p.Lys157=,ENST00000354811,;RPL15,synonymous_variant,p.Lys157=,ENST00000434031,;RPL15,synonymous_variant,p.Lys157=,ENST00000645079,;RPL15,synonymous_variant,p.Lys157=,ENST00000412097,;RPL15,5_prime_UTR_variant,,ENST00000436146,;RPL15,5_prime_UTR_variant,,ENST00000644684,;NKIRAS1,intron_variant,,ENST00000421515,NM_001377380.1;RPL15,intron_variant,,ENST00000456530,NM_001253384.2;NKIRAS1,upstream_gene_variant,,ENST00000388759,;NKIRAS1,upstream_gene_variant,,ENST00000412028,;NKIRAS1,upstream_gene_variant,,ENST00000415901,;NKIRAS1,upstream_gene_variant,,ENST00000416026,;RPL15,downstream_gene_variant,,ENST00000422218,;NKIRAS1,upstream_gene_variant,,ENST00000425478,NM_001377365.1,NM_001377362.1,NM_001377361.1,NM_001377364.1,NM_001377355.1,NM_001377354.1,NM_001377352.1,NM_001377370.1,NM_001377359.1,NM_001377360.1,NM_001377351.1,NM_001377353.1,NM_001377367.1,NM_001377369.1,NM_020345.4,NM_001377368.1,NM_001377371.1,NM_001377366.1,NM_001377372.1,NM_001377358.1,NM_001377356.1,NM_001377357.1;NKIRAS1,upstream_gene_variant,,ENST00000437230,;NKIRAS1,upstream_gene_variant,,ENST00000443659,;RPL15,downstream_gene_variant,,ENST00000643707,;RPL15,non_coding_transcript_exon_variant,,ENST00000490223,;RPL15,non_coding_transcript_exon_variant,,ENST00000465786,;,regulatory_region_variant,,ENSR00000149759,;,regulatory_region_variant,,ENSR00001063602,; A ENSG00000174748 ENST00000611050 Transcript synonymous_variant 864/2363 471/615 157/204 K aaG/aaA 1 NA 1 RPL15 HGNC HGNC:10306 protein_coding YES CCDS2640.1 ENSP00000483260 P61313.166 A0A024R2Q4.40 UPI0000003E34 NM_001253379.2 4/4 Gene3D:3.40.1120.10,PDB-ENSP_mappings:4ug0.LN,PDB-ENSP_mappings:4v6x.CN,PDB-ENSP_mappings:5aj0.AN,PDB-ENSP_mappings:5lks.LN,PDB-ENSP_mappings:5t2c.t,PDB-ENSP_mappings:6ek0.LN,PDB-ENSP_mappings:6ip5.2H,PDB-ENSP_mappings:6ip6.2H,PDB-ENSP_mappings:6ip8.2H,PDB-ENSP_mappings:6ole.O,PDB-ENSP_mappings:6olf.O,PDB-ENSP_mappings:6olg.AN,PDB-ENSP_mappings:6oli.O,PDB-ENSP_mappings:6olz.AN,PDB-ENSP_mappings:6om0.O,PDB-ENSP_mappings:6om7.O,PDB-ENSP_mappings:6qzp.LN,PDB-ENSP_mappings:6y0g.LN,PDB-ENSP_mappings:6y2l.LN,PDB-ENSP_mappings:6y57.LN,Pfam:PF00827,PANTHER:PTHR11847,PANTHER:PTHR11847:SF23,SMART:SM01384,Superfamily:SSF54189 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW NA SNV 4 NA NA 1 . AGC . 269.6 NA NA NA NA NA NA NA NA NA 23919357 RPL15 6138 . GRCh38 chr3 23919387 23919387 + Silent SNP A A T novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.501A>T p.Ala167= p.A167= ENST00000611050 4/4 NA NA NA NA NA NA RPL15,synonymous_variant,p.Ala167=,ENST00000611050,NM_001253379.2;RPL15,synonymous_variant,p.Ala167=,ENST00000413699,NM_001253380.2,NM_001253382.2,NM_001253383.3;RPL15,synonymous_variant,p.Ala167=,ENST00000307839,NM_002948.5;RPL15,synonymous_variant,p.Ala167=,ENST00000415719,;RPL15,synonymous_variant,p.Ala167=,ENST00000644185,;RPL15,synonymous_variant,p.Ala167=,ENST00000354811,;RPL15,synonymous_variant,p.Ala167=,ENST00000434031,;RPL15,synonymous_variant,p.Ala7=,ENST00000436146,;RPL15,synonymous_variant,p.Ala167=,ENST00000645079,;RPL15,synonymous_variant,p.Ala7=,ENST00000644684,;RPL15,synonymous_variant,p.Ala167=,ENST00000412097,;NKIRAS1,intron_variant,,ENST00000421515,NM_001377380.1;RPL15,intron_variant,,ENST00000456530,NM_001253384.2;NKIRAS1,upstream_gene_variant,,ENST00000388759,;NKIRAS1,upstream_gene_variant,,ENST00000412028,;NKIRAS1,upstream_gene_variant,,ENST00000415901,;NKIRAS1,upstream_gene_variant,,ENST00000416026,;RPL15,downstream_gene_variant,,ENST00000422218,;NKIRAS1,upstream_gene_variant,,ENST00000425478,NM_001377365.1,NM_001377362.1,NM_001377361.1,NM_001377364.1,NM_001377355.1,NM_001377354.1,NM_001377352.1,NM_001377370.1,NM_001377359.1,NM_001377360.1,NM_001377351.1,NM_001377353.1,NM_001377367.1,NM_001377369.1,NM_020345.4,NM_001377368.1,NM_001377371.1,NM_001377366.1,NM_001377372.1,NM_001377358.1,NM_001377356.1,NM_001377357.1;NKIRAS1,upstream_gene_variant,,ENST00000437230,;NKIRAS1,upstream_gene_variant,,ENST00000443659,;RPL15,downstream_gene_variant,,ENST00000643707,;RPL15,non_coding_transcript_exon_variant,,ENST00000490223,;RPL15,non_coding_transcript_exon_variant,,ENST00000465786,;,regulatory_region_variant,,ENSR00000149759,;,regulatory_region_variant,,ENSR00001063602,;,TF_binding_site_variant,,ENSM00205742495,; T ENSG00000174748 ENST00000611050 Transcript synonymous_variant 894/2363 501/615 167/204 A gcA/gcT 1 NA 1 RPL15 HGNC HGNC:10306 protein_coding YES CCDS2640.1 ENSP00000483260 P61313.166 A0A024R2Q4.40 UPI0000003E34 NM_001253379.2 4/4 Gene3D:3.40.1120.10,PDB-ENSP_mappings:4ug0.LN,PDB-ENSP_mappings:4v6x.CN,PDB-ENSP_mappings:5aj0.AN,PDB-ENSP_mappings:5lks.LN,PDB-ENSP_mappings:5t2c.t,PDB-ENSP_mappings:6ek0.LN,PDB-ENSP_mappings:6ip5.2H,PDB-ENSP_mappings:6ip6.2H,PDB-ENSP_mappings:6ip8.2H,PDB-ENSP_mappings:6ole.O,PDB-ENSP_mappings:6olf.O,PDB-ENSP_mappings:6olg.AN,PDB-ENSP_mappings:6oli.O,PDB-ENSP_mappings:6olz.AN,PDB-ENSP_mappings:6om0.O,PDB-ENSP_mappings:6om7.O,PDB-ENSP_mappings:6qzp.LN,PDB-ENSP_mappings:6y0g.LN,PDB-ENSP_mappings:6y2l.LN,PDB-ENSP_mappings:6y57.LN,Pfam:PF00827,PANTHER:PTHR11847,PANTHER:PTHR11847:SF23,SMART:SM01384,Superfamily:SSF54189 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW NA SNV 4 NA NA 1 . CAG . 128.6 NA NA NA NA NA NA NA NA NA 23919387 RPL15 6138 . GRCh38 chr3 23919444 23919444 + Silent SNP C C T rs3951706 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.558C>T p.Gly186= p.G186= ENST00000611050 4/4 NA NA NA NA NA NA RPL15,synonymous_variant,p.Gly186=,ENST00000611050,NM_001253379.2;RPL15,synonymous_variant,p.Gly186=,ENST00000413699,NM_001253380.2,NM_001253382.2,NM_001253383.3;RPL15,synonymous_variant,p.Gly186=,ENST00000307839,NM_002948.5;RPL15,synonymous_variant,p.Gly186=,ENST00000415719,;RPL15,synonymous_variant,p.Gly186=,ENST00000644185,;RPL15,synonymous_variant,p.Gly186=,ENST00000354811,;RPL15,synonymous_variant,p.Gly26=,ENST00000436146,;RPL15,synonymous_variant,p.Gly26=,ENST00000644684,;NKIRAS1,intron_variant,,ENST00000421515,NM_001377380.1;RPL15,intron_variant,,ENST00000456530,NM_001253384.2;NKIRAS1,upstream_gene_variant,,ENST00000388759,;NKIRAS1,upstream_gene_variant,,ENST00000412028,;RPL15,downstream_gene_variant,,ENST00000412097,;NKIRAS1,upstream_gene_variant,,ENST00000415901,;NKIRAS1,upstream_gene_variant,,ENST00000416026,;RPL15,downstream_gene_variant,,ENST00000422218,;NKIRAS1,upstream_gene_variant,,ENST00000425478,NM_001377365.1,NM_001377362.1,NM_001377361.1,NM_001377364.1,NM_001377355.1,NM_001377354.1,NM_001377352.1,NM_001377370.1,NM_001377359.1,NM_001377360.1,NM_001377351.1,NM_001377353.1,NM_001377367.1,NM_001377369.1,NM_020345.4,NM_001377368.1,NM_001377371.1,NM_001377366.1,NM_001377372.1,NM_001377358.1,NM_001377356.1,NM_001377357.1;RPL15,downstream_gene_variant,,ENST00000434031,;NKIRAS1,upstream_gene_variant,,ENST00000437230,;NKIRAS1,upstream_gene_variant,,ENST00000443659,;RPL15,downstream_gene_variant,,ENST00000643707,;RPL15,downstream_gene_variant,,ENST00000645079,;RPL15,non_coding_transcript_exon_variant,,ENST00000490223,;RPL15,non_coding_transcript_exon_variant,,ENST00000465786,;,regulatory_region_variant,,ENSR00000149759,;,regulatory_region_variant,,ENSR00001063602,; T ENSG00000174748 ENST00000611050 Transcript synonymous_variant 951/2363 558/615 186/204 G ggC/ggT rs3951706 1 NA 1 RPL15 HGNC HGNC:10306 protein_coding YES CCDS2640.1 ENSP00000483260 P61313.166 A0A024R2Q4.40 UPI0000003E34 NM_001253379.2 4/4 Gene3D:3.40.1120.10,PDB-ENSP_mappings:4ug0.LN,PDB-ENSP_mappings:4v6x.CN,PDB-ENSP_mappings:5aj0.AN,PDB-ENSP_mappings:5lks.LN,PDB-ENSP_mappings:5t2c.t,PDB-ENSP_mappings:6ek0.LN,PDB-ENSP_mappings:6ip5.2H,PDB-ENSP_mappings:6ip6.2H,PDB-ENSP_mappings:6ip8.2H,PDB-ENSP_mappings:6ole.O,PDB-ENSP_mappings:6olf.O,PDB-ENSP_mappings:6olg.AN,PDB-ENSP_mappings:6oli.O,PDB-ENSP_mappings:6olz.AN,PDB-ENSP_mappings:6om0.O,PDB-ENSP_mappings:6om7.O,PDB-ENSP_mappings:6qzp.LN,PDB-ENSP_mappings:6y0g.LN,PDB-ENSP_mappings:6y2l.LN,PDB-ENSP_mappings:6y57.LN,Pfam:PF00827,PANTHER:PTHR11847,PANTHER:PTHR11847:SF23,SMART:SM01384,Superfamily:SSF54189 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW NA SNV 4 NA NA 1 . GCT . 129.6 NA NA NA NA NA NA NA NA NA 23919444 RPL15 6138 . GRCh38 chr3 23919447 23919447 + Silent SNP T T C novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.561T>C p.Ser187= p.S187= ENST00000611050 4/4 NA NA NA NA NA NA RPL15,synonymous_variant,p.Ser187=,ENST00000611050,NM_001253379.2;RPL15,synonymous_variant,p.Ser187=,ENST00000413699,NM_001253380.2,NM_001253382.2,NM_001253383.3;RPL15,synonymous_variant,p.Ser187=,ENST00000307839,NM_002948.5;RPL15,synonymous_variant,p.Ser187=,ENST00000415719,;RPL15,synonymous_variant,p.Ser187=,ENST00000644185,;RPL15,synonymous_variant,p.Ser187=,ENST00000354811,;RPL15,synonymous_variant,p.Ser27=,ENST00000436146,;RPL15,synonymous_variant,p.Ser27=,ENST00000644684,;NKIRAS1,intron_variant,,ENST00000421515,NM_001377380.1;RPL15,intron_variant,,ENST00000456530,NM_001253384.2;NKIRAS1,upstream_gene_variant,,ENST00000388759,;NKIRAS1,upstream_gene_variant,,ENST00000412028,;RPL15,downstream_gene_variant,,ENST00000412097,;NKIRAS1,upstream_gene_variant,,ENST00000415901,;NKIRAS1,upstream_gene_variant,,ENST00000416026,;RPL15,downstream_gene_variant,,ENST00000422218,;NKIRAS1,upstream_gene_variant,,ENST00000425478,NM_001377365.1,NM_001377362.1,NM_001377361.1,NM_001377364.1,NM_001377355.1,NM_001377354.1,NM_001377352.1,NM_001377370.1,NM_001377359.1,NM_001377360.1,NM_001377351.1,NM_001377353.1,NM_001377367.1,NM_001377369.1,NM_020345.4,NM_001377368.1,NM_001377371.1,NM_001377366.1,NM_001377372.1,NM_001377358.1,NM_001377356.1,NM_001377357.1;RPL15,downstream_gene_variant,,ENST00000434031,;NKIRAS1,upstream_gene_variant,,ENST00000437230,;NKIRAS1,upstream_gene_variant,,ENST00000443659,;RPL15,downstream_gene_variant,,ENST00000643707,;RPL15,downstream_gene_variant,,ENST00000645079,;RPL15,non_coding_transcript_exon_variant,,ENST00000490223,;RPL15,non_coding_transcript_exon_variant,,ENST00000465786,;,regulatory_region_variant,,ENSR00000149759,;,regulatory_region_variant,,ENSR00001063602,; C ENSG00000174748 ENST00000611050 Transcript synonymous_variant 954/2363 561/615 187/204 S tcT/tcC 1 NA 1 RPL15 HGNC HGNC:10306 protein_coding YES CCDS2640.1 ENSP00000483260 P61313.166 A0A024R2Q4.40 UPI0000003E34 NM_001253379.2 4/4 Gene3D:3.40.1120.10,PDB-ENSP_mappings:4ug0.LN,PDB-ENSP_mappings:4v6x.CN,PDB-ENSP_mappings:5aj0.AN,PDB-ENSP_mappings:5lks.LN,PDB-ENSP_mappings:5t2c.t,PDB-ENSP_mappings:6ek0.LN,PDB-ENSP_mappings:6ip5.2H,PDB-ENSP_mappings:6ip6.2H,PDB-ENSP_mappings:6ip8.2H,PDB-ENSP_mappings:6ole.O,PDB-ENSP_mappings:6olf.O,PDB-ENSP_mappings:6olg.AN,PDB-ENSP_mappings:6oli.O,PDB-ENSP_mappings:6olz.AN,PDB-ENSP_mappings:6om0.O,PDB-ENSP_mappings:6om7.O,PDB-ENSP_mappings:6qzp.LN,PDB-ENSP_mappings:6y0g.LN,PDB-ENSP_mappings:6y2l.LN,PDB-ENSP_mappings:6y57.LN,Pfam:PF00827,PANTHER:PTHR11847,PANTHER:PTHR11847:SF23,SMART:SM01384,Superfamily:SSF54189 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW NA SNV 4 NA NA 1 . CTC . 126.64 NA NA NA NA NA NA NA NA NA 23919447 RPL15 6138 . GRCh38 chr3 23919453 23919453 + Silent SNP G G T novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.567G>T p.Arg189= p.R189= ENST00000611050 4/4 NA NA NA NA NA NA RPL15,synonymous_variant,p.Arg189=,ENST00000611050,NM_001253379.2;RPL15,synonymous_variant,p.Arg189=,ENST00000413699,NM_001253380.2,NM_001253382.2,NM_001253383.3;RPL15,synonymous_variant,p.Arg189=,ENST00000307839,NM_002948.5;RPL15,synonymous_variant,p.Arg189=,ENST00000415719,;RPL15,synonymous_variant,p.Arg189=,ENST00000644185,;RPL15,synonymous_variant,p.Arg189=,ENST00000354811,;RPL15,synonymous_variant,p.Arg29=,ENST00000436146,;RPL15,synonymous_variant,p.Arg29=,ENST00000644684,;NKIRAS1,intron_variant,,ENST00000421515,NM_001377380.1;RPL15,intron_variant,,ENST00000456530,NM_001253384.2;NKIRAS1,upstream_gene_variant,,ENST00000388759,;NKIRAS1,upstream_gene_variant,,ENST00000412028,;RPL15,downstream_gene_variant,,ENST00000412097,;NKIRAS1,upstream_gene_variant,,ENST00000415901,;NKIRAS1,upstream_gene_variant,,ENST00000416026,;RPL15,downstream_gene_variant,,ENST00000422218,;NKIRAS1,upstream_gene_variant,,ENST00000425478,NM_001377365.1,NM_001377362.1,NM_001377361.1,NM_001377364.1,NM_001377355.1,NM_001377354.1,NM_001377352.1,NM_001377370.1,NM_001377359.1,NM_001377360.1,NM_001377351.1,NM_001377353.1,NM_001377367.1,NM_001377369.1,NM_020345.4,NM_001377368.1,NM_001377371.1,NM_001377366.1,NM_001377372.1,NM_001377358.1,NM_001377356.1,NM_001377357.1;RPL15,downstream_gene_variant,,ENST00000434031,;NKIRAS1,upstream_gene_variant,,ENST00000437230,;NKIRAS1,upstream_gene_variant,,ENST00000443659,;RPL15,downstream_gene_variant,,ENST00000643707,;RPL15,downstream_gene_variant,,ENST00000645079,;RPL15,non_coding_transcript_exon_variant,,ENST00000490223,;RPL15,non_coding_transcript_exon_variant,,ENST00000465786,;,regulatory_region_variant,,ENSR00000149759,;,regulatory_region_variant,,ENSR00001063602,; T ENSG00000174748 ENST00000611050 Transcript synonymous_variant 960/2363 567/615 189/204 R cgG/cgT 1 NA 1 RPL15 HGNC HGNC:10306 protein_coding YES CCDS2640.1 ENSP00000483260 P61313.166 A0A024R2Q4.40 UPI0000003E34 NM_001253379.2 4/4 Gene3D:3.40.1120.10,PDB-ENSP_mappings:4ug0.LN,PDB-ENSP_mappings:4v6x.CN,PDB-ENSP_mappings:5aj0.AN,PDB-ENSP_mappings:5lks.LN,PDB-ENSP_mappings:5t2c.t,PDB-ENSP_mappings:6ek0.LN,PDB-ENSP_mappings:6ip5.2H,PDB-ENSP_mappings:6ip6.2H,PDB-ENSP_mappings:6ip8.2H,PDB-ENSP_mappings:6ole.O,PDB-ENSP_mappings:6olf.O,PDB-ENSP_mappings:6olg.AN,PDB-ENSP_mappings:6oli.O,PDB-ENSP_mappings:6olz.AN,PDB-ENSP_mappings:6om0.O,PDB-ENSP_mappings:6om7.O,PDB-ENSP_mappings:6qzp.LN,PDB-ENSP_mappings:6y0g.LN,PDB-ENSP_mappings:6y2l.LN,PDB-ENSP_mappings:6y57.LN,Pfam:PF00827,PANTHER:PTHR11847,PANTHER:PTHR11847:SF23,SMART:SM01384,Superfamily:SSF54189 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW NA SNV 4 NA NA 1 . GGG . 162.6 NA NA NA NA NA NA NA NA NA 23919453 RPL15 6138 . GRCh38 chr3 23919459 23919459 + Silent SNP T T C novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.573T>C p.Ala191= p.A191= ENST00000611050 4/4 NA NA NA NA NA NA RPL15,synonymous_variant,p.Ala191=,ENST00000611050,NM_001253379.2;RPL15,synonymous_variant,p.Ala191=,ENST00000413699,NM_001253380.2,NM_001253382.2,NM_001253383.3;RPL15,synonymous_variant,p.Ala191=,ENST00000307839,NM_002948.5;RPL15,synonymous_variant,p.Ala191=,ENST00000415719,;RPL15,synonymous_variant,p.Ala191=,ENST00000644185,;RPL15,synonymous_variant,p.Ala191=,ENST00000354811,;RPL15,synonymous_variant,p.Ala31=,ENST00000436146,;RPL15,synonymous_variant,p.Ala31=,ENST00000644684,;NKIRAS1,intron_variant,,ENST00000421515,NM_001377380.1;RPL15,intron_variant,,ENST00000456530,NM_001253384.2;NKIRAS1,upstream_gene_variant,,ENST00000388759,;NKIRAS1,upstream_gene_variant,,ENST00000412028,;RPL15,downstream_gene_variant,,ENST00000412097,;NKIRAS1,upstream_gene_variant,,ENST00000415901,;NKIRAS1,upstream_gene_variant,,ENST00000416026,;RPL15,downstream_gene_variant,,ENST00000422218,;NKIRAS1,upstream_gene_variant,,ENST00000425478,NM_001377365.1,NM_001377362.1,NM_001377361.1,NM_001377364.1,NM_001377355.1,NM_001377354.1,NM_001377352.1,NM_001377370.1,NM_001377359.1,NM_001377360.1,NM_001377351.1,NM_001377353.1,NM_001377367.1,NM_001377369.1,NM_020345.4,NM_001377368.1,NM_001377371.1,NM_001377366.1,NM_001377372.1,NM_001377358.1,NM_001377356.1,NM_001377357.1;RPL15,downstream_gene_variant,,ENST00000434031,;NKIRAS1,upstream_gene_variant,,ENST00000437230,;NKIRAS1,upstream_gene_variant,,ENST00000443659,;RPL15,downstream_gene_variant,,ENST00000643707,;RPL15,downstream_gene_variant,,ENST00000645079,;RPL15,non_coding_transcript_exon_variant,,ENST00000490223,;RPL15,non_coding_transcript_exon_variant,,ENST00000465786,;,regulatory_region_variant,,ENSR00000149759,;,regulatory_region_variant,,ENSR00001063602,; C ENSG00000174748 ENST00000611050 Transcript synonymous_variant 966/2363 573/615 191/204 A gcT/gcC 1 NA 1 RPL15 HGNC HGNC:10306 protein_coding YES CCDS2640.1 ENSP00000483260 P61313.166 A0A024R2Q4.40 UPI0000003E34 NM_001253379.2 4/4 Gene3D:3.40.1120.10,PDB-ENSP_mappings:4ug0.LN,PDB-ENSP_mappings:4v6x.CN,PDB-ENSP_mappings:5aj0.AN,PDB-ENSP_mappings:5lks.LN,PDB-ENSP_mappings:5t2c.t,PDB-ENSP_mappings:6ek0.LN,PDB-ENSP_mappings:6ip5.2H,PDB-ENSP_mappings:6ip6.2H,PDB-ENSP_mappings:6ip8.2H,PDB-ENSP_mappings:6ole.O,PDB-ENSP_mappings:6olf.O,PDB-ENSP_mappings:6olg.AN,PDB-ENSP_mappings:6oli.O,PDB-ENSP_mappings:6olz.AN,PDB-ENSP_mappings:6om0.O,PDB-ENSP_mappings:6om7.O,PDB-ENSP_mappings:6qzp.LN,PDB-ENSP_mappings:6y0g.LN,PDB-ENSP_mappings:6y2l.LN,PDB-ENSP_mappings:6y57.LN,PANTHER:PTHR11847,PANTHER:PTHR11847:SF23,SMART:SM01384,Superfamily:SSF54189 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW NA SNV 4 NA NA 1 . CTT . 138.6 NA NA NA NA NA NA NA NA NA 23919459 NEK10 152110 . GRCh38 chr3 27202464 27202464 + Frame_Shift_Del DEL G G - novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2184del p.Phe729SerfsTer13 p.F729Sfs*13 ENST00000429845 25/39 NA NA NA NA NA NA NEK10,frameshift_variant,p.Phe729SerfsTer13,ENST00000429845,NM_152534.4;NEK10,frameshift_variant,p.Phe41SerfsTer13,ENST00000295720,NM_001304384.1;NEK10,frameshift_variant,p.Phe41SerfsTer13,ENST00000383771,NM_001031741.3;NEK10,frameshift_variant,p.Phe32SerfsTer13,ENST00000383770,;NEK10,non_coding_transcript_exon_variant,,ENST00000574215,; - ENSG00000163491 ENST00000429845 Transcript frameshift_variant 2547/4250 2184/3519 728/1172 P/X ccC/cc 1 NA -1 NEK10 HGNC HGNC:18592 protein_coding YES ENSP00000395849 Q6ZWH5.145 UPI0000EE2A86 NM_152534.4 25/39 Gene3D:1.10.510.10,Pfam:PF00069,PROSITE_profiles:PS50011,PANTHER:PTHR43671,PANTHER:PTHR43671:SF18,Superfamily:SSF56112,CDD:cd08528 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 5 NA NA 1 . AAGG . 2237.6 NA NA NA NA NA NA NA NA NA 27202463 STT3B 201595 . GRCh38 chr3 31623708 31623708 + Frame_Shift_Del DEL A A - novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1579del p.Thr527LeufsTer5 p.T527Lfs*5 ENST00000295770 11/16 NA NA NA NA NA NA STT3B,frameshift_variant,p.Thr527LeufsTer5,ENST00000295770,NM_178862.3;STT3B,downstream_gene_variant,,ENST00000423527,;STT3B,downstream_gene_variant,,ENST00000453168,;STT3B,upstream_gene_variant,,ENST00000463044,;STT3B,downstream_gene_variant,,ENST00000436236,; - ENSG00000163527 ENST00000295770 Transcript frameshift_variant 1648/4107 1574/2481 525/826 E/X gAa/ga 1 NA 1 STT3B HGNC HGNC:30611 protein_coding YES CCDS2650.1 ENSP00000295770 Q8TCJ2.140 UPI000006D7FB NM_178862.3 11/16 PDB-ENSP_mappings:6s7t.A,PANTHER:PTHR13872,Pfam:PF02516 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 5 NA 1 . GGAA . 2397.6 NA NA NA NA NA NA NA NA NA 31623707 MYD88 4615 . GRCh38 chr3 38140770 38140770 + Missense_Mutation SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.682G>A p.Val228Met p.V228M ENST00000421516 4/5 NA NA NA NA NA NA MYD88,stop_gained,p.Trp213Ter,ENST00000652213,NM_001374787.1,NM_001365876.1,NM_001365877.1;MYD88,stop_gained,p.Trp159Ter,ENST00000651800,NM_001172569.3;MYD88,stop_gained,p.Trp114Ter,ENST00000650112,NM_001172566.2;MYD88,missense_variant,p.Val220Met,ENST00000396334,;MYD88,missense_variant,p.Val228Met,ENST00000421516,NM_001172567.2;MYD88,missense_variant,p.Val220Met,ENST00000650905,NM_002468.5;MYD88,missense_variant,p.Val175Met,ENST00000417037,NM_001172568.2,NM_001374788.1;ACAA1,upstream_gene_variant,,ENST00000301810,NM_001130410.1;ACAA1,upstream_gene_variant,,ENST00000333167,NM_001607.4;ACAA1,upstream_gene_variant,,ENST00000421218,;ACAA1,upstream_gene_variant,,ENST00000450296,;MYD88,non_coding_transcript_exon_variant,,ENST00000481122,;MYD88,non_coding_transcript_exon_variant,,ENST00000463956,;MYD88,non_coding_transcript_exon_variant,,ENST00000484513,;MYD88,non_coding_transcript_exon_variant,,ENST00000652590,;MYD88,non_coding_transcript_exon_variant,,ENST00000416282,;ACAA1,upstream_gene_variant,,ENST00000411549,;ACAA1,upstream_gene_variant,,ENST00000418880,;ACAA1,upstream_gene_variant,,ENST00000440176,;ACAA1,upstream_gene_variant,,ENST00000447223,;MYD88,downstream_gene_variant,,ENST00000460295,;ACAA1,upstream_gene_variant,,ENST00000460424,;ACAA1,upstream_gene_variant,,ENST00000484284,;ACAA1,upstream_gene_variant,,ENST00000489559,;ACAA1,upstream_gene_variant,,ENST00000625927,;,regulatory_region_variant,,ENSR00000682963,; A ENSG00000172936 ENST00000421516 Transcript missense_variant 722/2691 682/915 228/304 V/M Gtg/Atg 1 NA 1 MYD88 HGNC HGNC:7562 protein_coding YES ENSP00000391753 Q99836.201 UPI00005A71AE NM_001172567.2 deleterious(0) probably_damaging(0.997) 4/5 Low_complexity_(Seg):seg,PROSITE_profiles:PS50104,PANTHER:PTHR15079:SF8,PANTHER:PTHR15079,PIRSF:PIRSF037756,Pfam:PF01582,Gene3D:3.40.50.10140,SMART:SM00255,Superfamily:SSF52200 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . GGT . 1590.6 NA NA NA NA NA NA NA NA NA 38140770 XIRP1 165904 . GRCh38 chr3 39189339 39189339 + Missense_Mutation SNP G G A rs142529698 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.107C>T p.Pro36Leu p.P36L ENST00000340369 2/2 NA NA NA NA NA NA XIRP1,missense_variant,p.Pro36Leu,ENST00000340369,NM_194293.4;XIRP1,missense_variant,p.Pro36Leu,ENST00000396251,NM_001198621.4;XIRP1,intron_variant,,ENST00000421646,NM_001351377.2;,regulatory_region_variant,,ENSR00000303545,; A ENSG00000168334 ENST00000340369 Transcript missense_variant 337/6461 107/5532 36/1843 P/L cCg/cTg rs142529698 1 NA -1 XIRP1 HGNC HGNC:14301 protein_coding YES CCDS2683.1 ENSP00000343140 Q702N8.118 UPI00001BFB06 NM_194293.4 deleterious(0.02) benign(0.065) 2/2 PANTHER:PTHR22591,PANTHER:PTHR22591:SF2,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA 0.0002272 NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CGG . 4275.6 4.024e-05 6.396e-05 0.0001158 NA NA NA 1.785e-05 NA 9.803e-05 39189339 MOBP 4336 . GRCh38 chr3 39502811 39502811 + Silent SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.555C>T p.Arg185= p.R185= ENST00000311042 4/5 NA NA NA NA NA NA MOBP,synonymous_variant,p.Arg185=,ENST00000311042,NM_001278322.2;MOBP,synonymous_variant,p.Arg161=,ENST00000420739,;MOBP,synonymous_variant,p.Arg161=,ENST00000441980,NM_001278323.2;MOBP,intron_variant,,ENST00000383754,NM_182935.4;MOBP,intron_variant,,ENST00000415443,;MOBP,intron_variant,,ENST00000428261,;MOBP,intron_variant,,ENST00000447324,;MOBP,downstream_gene_variant,,ENST00000436143,;MOBP,downstream_gene_variant,,ENST00000451925,;AC092058.1,upstream_gene_variant,,ENST00000648447,;MOBP,intron_variant,,ENST00000479860,;MOBP,synonymous_variant,p.Arg161=,ENST00000424090,;MOBP,synonymous_variant,p.Arg161=,ENST00000442631,;MOBP,intron_variant,,ENST00000452959,; T ENSG00000168314 ENST00000311042 Transcript synonymous_variant 704/3388 555/621 185/206 R cgC/cgT 1 NA 1 MOBP HGNC HGNC:7189 protein_coding YES CCDS63598.1 ENSP00000312293 Q13875.132 UPI0000EE2A8E NM_001278322.2 4/5 PANTHER:PTHR14555,PANTHER:PTHR14555:SF15,Low_complexity_(Seg):seg,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 2 NA NA NA . GCA . 2286.6 NA NA NA NA NA NA NA NA NA 39502811 RPL14 9045 . GRCh38 chr3 40462029 40462030 + In_Frame_Ins INS - - CTGCTG rs57354599 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.472_477dup p.Ala158_Ala159dup p.A158_A159dup ENST00000396203 6/6 NA NA NA NA NA NA RPL14,inframe_insertion,p.Ala158_Ala159dup,ENST00000396203,NM_001034996.3;RPL14,inframe_insertion,p.Ala158_Ala159dup,ENST00000338970,NM_003973.5;RPL14,3_prime_UTR_variant,,ENST00000416518,;RPL14,downstream_gene_variant,,ENST00000461368,;RPL14,3_prime_UTR_variant,,ENST00000435633,;RPL14,non_coding_transcript_exon_variant,,ENST00000479563,;RPL14,non_coding_transcript_exon_variant,,ENST00000481798,;RPL14,downstream_gene_variant,,ENST00000465280,;RPL14,downstream_gene_variant,,ENST00000465325,; CTGCTG ENSG00000188846 ENST00000396203 Transcript inframe_insertion 578-579/7136 445-446/648 149/215 T/TAA act/aCTGCTGct rs57354599 1 NA 1 RPL14 HGNC HGNC:10305 protein_coding YES CCDS43070.1 ENSP00000379506 P50914.207 UPI0000367134 NM_001034996.3 6/6 PDB-ENSP_mappings:4ug0.LM,PDB-ENSP_mappings:4v6x.CM,PDB-ENSP_mappings:5aj0.AM,PDB-ENSP_mappings:5lks.LM,PDB-ENSP_mappings:5t2c.s,PDB-ENSP_mappings:6ek0.LM,PDB-ENSP_mappings:6ip5.2G,PDB-ENSP_mappings:6ip6.2G,PDB-ENSP_mappings:6ip8.2G,PDB-ENSP_mappings:6y0g.LM,PDB-ENSP_mappings:6y2l.LM,PDB-ENSP_mappings:6y57.LM,Low_complexity_(Seg):seg,PANTHER:PTHR11127,PANTHER:PTHR11127:SF4 NA 0.0333 0.0821 NA 0.1131 0.0328 0.1125 NA NA NA NA NA NA MODERATE 1 insertion 1 32 NA NA . TAC . 2923.06 NA NA NA NA NA NA NA NA NA 40462029 EXOSC7 23016 . GRCh38 chr3 45001605 45001605 + Missense_Mutation SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.488C>T p.Thr163Ile p.T163I ENST00000265564 5/8 NA NA NA NA NA NA EXOSC7,missense_variant,p.Thr163Ile,ENST00000265564,NM_015004.4;EXOSC7,non_coding_transcript_exon_variant,,ENST00000461361,;EXOSC7,non_coding_transcript_exon_variant,,ENST00000491476,;EXOSC7,non_coding_transcript_exon_variant,,ENST00000468667,;CLEC3B,non_coding_transcript_exon_variant,,ENST00000490386,;EXOSC7,non_coding_transcript_exon_variant,,ENST00000482004,;EXOSC7,intron_variant,,ENST00000481405,;EXOSC7,non_coding_transcript_exon_variant,,ENST00000467846,;EXOSC7,upstream_gene_variant,,ENST00000486727,;,regulatory_region_variant,,ENSR00000684409,; T ENSG00000075914 ENST00000265564 Transcript missense_variant 522/1042 488/876 163/291 T/I aCa/aTa 1 NA 1 EXOSC7 HGNC HGNC:28112 protein_coding YES CCDS2725.1 ENSP00000265564 Q15024.190 A0A024R2T3.2 UPI000020A5E9 NM_015004.4 deleterious(0) probably_damaging(0.974) 5/8 PDB-ENSP_mappings:2nn6.E,PDB-ENSP_mappings:6d6q.E,PDB-ENSP_mappings:6d6r.E,PDB-ENSP_mappings:6h25.E,CDD:cd11367,PANTHER:PTHR11097,PANTHER:PTHR11097:SF8,Gene3D:3.30.230.70,Pfam:PF01138,Superfamily:SSF54211 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . ACA . 2732.6 NA NA NA NA NA NA NA NA NA 45001605 LARS2 23395 . GRCh38 chr3 45516171 45516171 + Missense_Mutation SNP G G A rs539920212 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1939G>A p.Gly647Arg p.G647R ENST00000650792 16/21 NA NA NA NA NA NA LARS2,missense_variant,p.Gly647Arg,ENST00000650792,NM_001368263.1;LARS2,missense_variant,p.Gly647Arg,ENST00000645846,NM_015340.4;LARS2,missense_variant,p.Gly647Arg,ENST00000642274,;LARS2,missense_variant,p.Gly604Arg,ENST00000414984,;LARS2,non_coding_transcript_exon_variant,,ENST00000467936,;LARS2,3_prime_UTR_variant,,ENST00000265537,;LARS2,3_prime_UTR_variant,,ENST00000651549,;LARS2,3_prime_UTR_variant,,ENST00000652135,;LARS2,upstream_gene_variant,,ENST00000485461,;,regulatory_region_variant,,ENSR00001065573,; A ENSG00000011376 ENST00000650792 Transcript missense_variant 2080/10049 1939/2712 647/903 G/R Ggg/Agg rs539920212,COSV55532502 1 NA 1 LARS2 HGNC HGNC:17095 protein_coding YES CCDS2728.1 ENSP00000498867 Q15031.179 UPI0000001297 NM_001368263.1 deleterious(0) probably_damaging(1) 16/21 CDD:cd00812,PANTHER:PTHR43740:SF2,PANTHER:PTHR43740,Pfam:PF00133,TIGRFAM:TIGR00396,Gene3D:1.10.730.10,Gene3D:3.10.330.110,Superfamily:SSF52374 2e-04 NA NA NA 0.001 NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV NA NA 0,1 NA 1 . CGG . 2777.6 2.784e-05 NA 0.0001156 NA 5.437e-05 NA 8.791e-06 NA 3.266e-05 45516171 PRSS45P 729756 . GRCh38 chr3 46743072 46743072 + Silent SNP G G C novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.534C>G p.Ala178= p.A178= ENST00000442359 5/6 NA NA NA NA NA NA PRSS45P,splice_region_variant,p.Ala130=,ENST00000620911,;PRSS45P,synonymous_variant,p.Ala178=,ENST00000442359,;AC109583.1,intron_variant,,ENST00000460241,;AC109583.4,non_coding_transcript_exon_variant,,ENST00000641183,; C ENSG00000188086 ENST00000442359 Transcript synonymous_variant 534/927 534/927 178/308 A gcC/gcG 1 NA -1 PRSS45P HGNC HGNC:30717 protein_coding YES ENSP00000401932 A0A5K1VW68.2 UPI001235AE2D 5/6 CDD:cd00190,Pfam:PF00089,Gene3D:2.40.10.10,SMART:SM00020,Superfamily:SSF50494,PROSITE_profiles:PS50240,PANTHER:PTHR24256,PANTHER:PTHR24256:SF140 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . TGG . 2845.6 NA NA NA NA NA NA NA NA NA 46743072 NBEAL2 23218 . GRCh38 chr3 47001363 47001363 + Silent SNP G G A rs751210922 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4569G>A p.Ala1523= p.A1523= ENST00000450053 29/54 NA NA NA NA NA NA NBEAL2,synonymous_variant,p.Ala1523=,ENST00000450053,NM_015175.3;NBEAL2,synonymous_variant,p.Ala1489=,ENST00000651747,NM_001365116.2;NBEAL2,synonymous_variant,p.Ala811=,ENST00000416683,;NBEAL2,upstream_gene_variant,,ENST00000423436,;NBEAL2,upstream_gene_variant,,ENST00000443829,;NBEAL2,non_coding_transcript_exon_variant,,ENST00000475689,;NBEAL2,upstream_gene_variant,,ENST00000441027,;NBEAL2,upstream_gene_variant,,ENST00000486870,;NBEAL2,upstream_gene_variant,,ENST00000651350,;NBEAL2,upstream_gene_variant,,ENST00000651450,;NBEAL2,upstream_gene_variant,,ENST00000651453,;NBEAL2,downstream_gene_variant,,ENST00000652242,;NBEAL2,downstream_gene_variant,,ENST00000652744,; A ENSG00000160796 ENST00000450053 Transcript synonymous_variant 4765/8842 4569/8265 1523/2754 A gcG/gcA rs751210922 1 NA 1 NBEAL2 HGNC HGNC:31928 protein_coding YES CCDS46817.1 ENSP00000415034 Q6ZNJ1.144 UPI000022C020 NM_015175.3 29/54 Low_complexity_(Seg):seg,PANTHER:PTHR13743:SF111,PANTHER:PTHR13743 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 2 NA NA 1 . CGC . 5119.6 2.414e-05 0.0002596 NA NA NA NA 1.777e-05 NA NA 47001363 CELSR3 1951 . GRCh38 chr3 48657176 48657176 + Silent SNP A A G novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3921T>C p.Ala1307= p.A1307= ENST00000164024 2/35 NA NA NA NA NA NA CELSR3,synonymous_variant,p.Ala1307=,ENST00000164024,NM_001407.3;,regulatory_region_variant,,ENSR00000685310,; G ENSG00000008300 ENST00000164024 Transcript synonymous_variant 4173/11933 3921/9939 1307/3312 A gcT/gcC 1 NA -1 CELSR3 HGNC HGNC:3230 protein_coding YES CCDS2775.1 ENSP00000164024 Q9NYQ7.184 UPI00001AE5A6 NM_001407.3 2/35 PANTHER:PTHR24026,PANTHER:PTHR24026:SF38 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . CAG . 10226.6 NA NA NA NA NA NA NA NA NA 48657176 NCKIPSD 51517 . GRCh38 chr3 48681380 48681380 + Silent SNP C C A novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.999G>T p.Val333= p.V333= ENST00000294129 5/13 NA NA NA NA NA NA NCKIPSD,synonymous_variant,p.Val333=,ENST00000294129,NM_016453.4;NCKIPSD,synonymous_variant,p.Val326=,ENST00000416649,NM_184231.3;NCKIPSD,synonymous_variant,p.Val333=,ENST00000439518,;NCKIPSD,synonymous_variant,p.Val69=,ENST00000415281,;NCKIPSD,upstream_gene_variant,,ENST00000413374,;NCKIPSD,downstream_gene_variant,,ENST00000426678,;NCKIPSD,downstream_gene_variant,,ENST00000453349,;NCKIPSD,downstream_gene_variant,,ENST00000454134,;NCKIPSD,upstream_gene_variant,,ENST00000470006,; A ENSG00000213672 ENST00000294129 Transcript synonymous_variant 1107/2977 999/2169 333/722 V gtG/gtT 1 NA -1 NCKIPSD HGNC HGNC:15486 protein_coding YES CCDS2776.1 ENSP00000294129 Q9NZQ3.176 UPI0000135D86 NM_016453.4 5/13 PDB-ENSP_mappings:6dec.M,PDB-ENSP_mappings:6dec.P,PDB-ENSP_mappings:6dee.A,PANTHER:PTHR13357 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . CCA . 4342.6 NA NA NA NA NA NA NA NA NA 48681380 QRICH1 54870 . GRCh38 chr3 49057545 49057545 + Missense_Mutation SNP G G T novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.655C>A p.Leu219Ile p.L219I ENST00000395443 3/10 NA NA NA NA NA NA QRICH1,missense_variant,p.Leu219Ile,ENST00000395443,NM_001320584.1,NM_001320585.1,NM_198880.3;QRICH1,missense_variant,p.Leu219Ile,ENST00000357496,NM_017730.3;QRICH1,missense_variant,p.Leu219Ile,ENST00000424300,NM_001320583.1,NM_001320580.1,NM_001320582.1,NM_001320581.1;QRICH1,intron_variant,,ENST00000479449,; T ENSG00000198218 ENST00000395443 Transcript missense_variant 836/3257 655/2331 219/776 L/I Ctt/Att 1 NA -1 QRICH1 HGNC HGNC:24713 protein_coding YES CCDS2787.1 ENSP00000378830 Q2TAL8.115 A1L3Z9.106 UPI0000209C85 NM_001320584.1,NM_001320585.1,NM_198880.3 tolerated(0.3) benign(0.117) 3/10 MobiDB_lite:mobidb-lite,PANTHER:PTHR45736:SF8,PANTHER:PTHR45736 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . AGG . 7067.6 NA NA NA NA NA NA NA NA NA 49057545 BSN 8927 . GRCh38 chr3 49654990 49654990 + Missense_Mutation SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.5434G>A p.Ala1812Thr p.A1812T ENST00000296452 5/12 NA NA NA NA NA NA BSN,missense_variant,p.Ala1812Thr,ENST00000296452,NM_003458.4;BSN,downstream_gene_variant,,ENST00000467456,;,regulatory_region_variant,,ENSR00000685531,; A ENSG00000164061 ENST00000296452 Transcript missense_variant 5560/15971 5434/11781 1812/3926 A/T Gcc/Acc 1 NA 1 BSN HGNC HGNC:1117 protein_coding YES CCDS2800.1 ENSP00000296452 Q9UPA5.145 UPI000013E33C NM_003458.4 tolerated(0.43) benign(0) 5/12 PANTHER:PTHR14113,PANTHER:PTHR14113:SF1 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . GGC . 7402.6 NA NA NA NA NA NA NA NA NA 49654990 CDHR4 389118 . GRCh38 chr3 49793001 49793001 + Nonsense_Mutation SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1848G>A p.Trp616Ter p.W616* ENST00000412678 14/19 NA NA NA NA NA NA CDHR4,stop_gained,p.Trp616Ter,ENST00000412678,NM_001007540.4;CDHR4,upstream_gene_variant,,ENST00000487666,;CDHR4,upstream_gene_variant,,ENST00000462108,;CDHR4,stop_gained,p.Trp62Ter,ENST00000460430,; T ENSG00000187492 ENST00000412678 Transcript stop_gained 1909/2528 1848/2367 616/788 W/* tgG/tgA 1 NA -1 CDHR4 HGNC HGNC:34527 protein_coding YES CCDS46829.1 ENSP00000391409 A6H8M9.103 UPI0001574E5E NM_001007540.4 14/19 CDD:cd11304,Gene3D:2.60.40.60,Superfamily:SSF49313,PANTHER:PTHR24028:SF123,PANTHER:PTHR24028 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 SNV 1 NA NA NA . GCC . 6673.6 NA NA NA NA NA NA NA NA NA 49793001 RBM6 10180 . GRCh38 chr3 49962646 49962646 + Frame_Shift_Del DEL G G - novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.10del p.Asp4IlefsTer65 p.D4Ifs*65 ENST00000266022 2/21 NA NA NA NA NA NA RBM6,frameshift_variant,p.Asp4IlefsTer65,ENST00000266022,NM_005777.3;RBM6,frameshift_variant,p.Asp4IlefsTer65,ENST00000433811,;RBM6,5_prime_UTR_variant,,ENST00000443081,;RBM6,5_prime_UTR_variant,,ENST00000422955,NM_001349192.2,NM_001349193.2,NM_001349191.2,NM_001349190.2;RBM6,5_prime_UTR_variant,,ENST00000442092,NM_001349194.2,NM_001167582.2;RBM6,non_coding_transcript_exon_variant,,ENST00000441115,;RBM6,non_coding_transcript_exon_variant,,ENST00000488807,;RBM6,non_coding_transcript_exon_variant,,ENST00000491874,;RBM6,frameshift_variant,p.Asp4IlefsTer13,ENST00000419610,;RBM6,frameshift_variant,p.Asp4IlefsTer65,ENST00000425608,;RBM6,5_prime_UTR_variant,,ENST00000454079,;RBM6,5_prime_UTR_variant,,ENST00000434592,;RBM6,non_coding_transcript_exon_variant,,ENST00000493652,; - ENSG00000004534 ENST00000266022 Transcript frameshift_variant 147/3630 5/3372 2/1123 W/X tGg/tg 1 NA 1 RBM6 HGNC HGNC:9903 protein_coding YES CCDS2809.1 ENSP00000266022 P78332.184 UPI000013D6C0 NM_005777.3 2/21 MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 5 NA NA . GTGG . 1697.6 NA NA NA NA NA NA NA NA NA 49962645 HYAL3 8372 . GRCh38 chr3 50295180 50295180 + Silent SNP G G A rs1455781446 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.423C>T p.Arg141= p.R141= ENST00000336307 2/4 NA NA NA NA NA NA HYAL3,synonymous_variant,p.Arg141=,ENST00000336307,NM_003549.4;HYAL3,synonymous_variant,p.Arg141=,ENST00000621157,NM_001200029.2;HYAL3,synonymous_variant,p.Arg141=,ENST00000359051,;HYAL3,synonymous_variant,p.Arg141=,ENST00000450982,NM_001200030.2;HYAL3,synonymous_variant,p.Arg141=,ENST00000435141,;HYAL3,intron_variant,,ENST00000415204,NM_001200031.2;HYAL3,intron_variant,,ENST00000513170,NM_001200032.2;HYAL1,downstream_gene_variant,,ENST00000266031,;HYAL1,downstream_gene_variant,,ENST00000320295,NM_153281.1;NAA80,downstream_gene_variant,,ENST00000354862,NM_012191.4;HYAL1,downstream_gene_variant,,ENST00000395144,NM_033159.4;NAA80,downstream_gene_variant,,ENST00000417393,NM_001200018.2;IFRD2,upstream_gene_variant,,ENST00000417626,NM_006764.4;IFRD2,upstream_gene_variant,,ENST00000436390,;NAA80,downstream_gene_variant,,ENST00000442620,;NAA80,downstream_gene_variant,,ENST00000443094,NM_001200016.2;NAA80,downstream_gene_variant,,ENST00000443842,;NAA80,downstream_gene_variant,,ENST00000450489,;NAA80,downstream_gene_variant,,ENST00000452674,;HYAL1,downstream_gene_variant,,ENST00000618175,;IFRD2,upstream_gene_variant,,ENST00000468737,;IFRD2,upstream_gene_variant,,ENST00000484043,;IFRD2,upstream_gene_variant,,ENST00000414734,;IFRD2,upstream_gene_variant,,ENST00000438296,;IFRD2,upstream_gene_variant,,ENST00000462001,;IFRD2,upstream_gene_variant,,ENST00000474556,;IFRD2,upstream_gene_variant,,ENST00000489569,; A ENSG00000186792 ENST00000336307 Transcript synonymous_variant 633/1878 423/1254 141/417 R cgC/cgT rs1455781446 1 NA -1 HYAL3 HGNC HGNC:5322 protein_coding YES CCDS2815.1 ENSP00000337425 O43820.156 UPI000006E0AC NM_003549.4 2/4 Low_complexity_(Seg):seg,PANTHER:PTHR11769:SF19,PANTHER:PTHR11769,Pfam:PF01630,PIRSF:PIRSF038193,PIRSF:PIRSF500776,Gene3D:3.20.20.70,Superfamily:SSF51445 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . GGC . 1614.6 NA NA NA NA NA NA NA NA NA 50295180 DOCK3 1795 . GRCh38 chr3 51315107 51315107 + Frame_Shift_Del DEL A A - novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3386del p.Asn1129MetfsTer11 p.N1129Mfs*11 ENST00000266037 32/53 NA NA NA NA NA NA DOCK3,frameshift_variant,p.Asn1129MetfsTer11,ENST00000266037,NM_004947.5; - ENSG00000088538 ENST00000266037 Transcript frameshift_variant 3718/9069 3381/6093 1127/2030 R/X agA/ag 1 NA 1 DOCK3 HGNC HGNC:2989 protein_coding YES CCDS46835.1 ENSP00000266037 Q8IZD9.145 UPI000007412C NM_004947.5 32/53 PANTHER:PTHR45653,PANTHER:PTHR45653:SF4,Pfam:PF06920,Superfamily:SSF48371 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 5 NA 1 . AGAA . 1303.6 NA NA NA NA NA NA NA NA NA 51315106 DOCK3 1795 . GRCh38 chr3 51380173 51380173 + Frame_Shift_Del DEL C C - rs782552436 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.5555del p.Pro1852GlnfsTer45 p.P1852Qfs*45 ENST00000266037 52/53 NA NA NA NA NA NA DOCK3,frameshift_variant,p.Pro1852GlnfsTer45,ENST00000266037,NM_004947.5;,regulatory_region_variant,,ENSR00000686000,; - ENSG00000088538 ENST00000266037 Transcript frameshift_variant 5886/9069 5549/6093 1850/2030 T/X aCc/ac rs782552436 1 NA 1 DOCK3 HGNC HGNC:2989 protein_coding YES CCDS46835.1 ENSP00000266037 Q8IZD9.145 UPI000007412C NM_004947.5 52/53 PANTHER:PTHR45653,PANTHER:PTHR45653:SF4 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 6 NA 1 . TACC . 9047.06 2.03e-05 NA 2.94e-05 NA 5.615e-05 4.719e-05 1.79e-05 NA NA 51380172 DCAF1 9730 . GRCh38 chr3 51433165 51433165 + Missense_Mutation SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1228G>A p.Ala410Thr p.A410T ENST00000423656 9/25 NA NA NA NA NA NA DCAF1,missense_variant,p.Ala409Thr,ENST00000504652,NM_001171904.1,NM_001349171.2;DCAF1,missense_variant,p.Ala410Thr,ENST00000423656,NM_014703.3,NM_001349170.2,NM_001349168.2,NM_001349169.2;DCAF1,intron_variant,,ENST00000335891,; T ENSG00000145041 ENST00000423656 Transcript missense_variant 1358/5946 1228/4524 410/1507 A/T Gca/Aca 1 NA -1 DCAF1 HGNC HGNC:30911 protein_coding YES CCDS74943.1 ENSP00000393183 Q9Y4B6.165 UPI00000716AC NM_014703.3,NM_001349170.2,NM_001349168.2,NM_001349169.2 deleterious(0) probably_damaging(0.996) 9/25 PANTHER:PTHR13129,Superfamily:SSF48371 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . GCA . 1834.6 NA NA NA NA NA NA NA NA NA 51433165 PCBP4 57060 . GRCh38 chr3 51958937 51958937 + Missense_Mutation SNP C C T rs753153356 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.776G>A p.Arg259His p.R259H ENST00000461554 13/14 NA NA NA NA NA NA PCBP4,missense_variant,p.Arg259His,ENST00000461554,NM_001174100.2;PCBP4,missense_variant,p.Arg259His,ENST00000355852,NM_033008.3;PCBP4,missense_variant,p.Arg216His,ENST00000484633,;PCBP4,missense_variant,p.Arg259His,ENST00000322099,NM_033010.2;PCBP4,missense_variant,p.Arg216His,ENST00000428823,NM_020418.4;PCBP4,missense_variant,p.Arg259His,ENST00000471622,NM_001363885.1;GPR62,downstream_gene_variant,,ENST00000322241,NM_080865.4;PCBP4,downstream_gene_variant,,ENST00000461544,;PCBP4,downstream_gene_variant,,ENST00000466412,;PCBP4,downstream_gene_variant,,ENST00000468324,;PCBP4,downstream_gene_variant,,ENST00000483411,;PCBP4,downstream_gene_variant,,ENST00000489595,;PCBP4,downstream_gene_variant,,ENST00000490063,;PCBP4,downstream_gene_variant,,ENST00000497653,;AC115284.1,downstream_gene_variant,,ENST00000488257,;PCBP4,3_prime_UTR_variant,,ENST00000471308,;PCBP4,non_coding_transcript_exon_variant,,ENST00000492809,;PCBP4,non_coding_transcript_exon_variant,,ENST00000498822,;PCBP4,non_coding_transcript_exon_variant,,ENST00000497390,;PCBP4,downstream_gene_variant,,ENST00000471358,;,regulatory_region_variant,,ENSR00000686127,; T ENSG00000090097 ENST00000461554 Transcript missense_variant 1117/2156 776/1212 259/403 R/H cGc/cAc rs753153356,COSV59053955 1 NA -1 PCBP4 HGNC HGNC:8652 protein_coding YES CCDS2839.1 ENSP00000417196 P57723.157 A0A024R2Y0.3 UPI00001313CB NM_001174100.2 deleterious(0.03) probably_damaging(0.998) 13/14 Gene3D:3.30.1370.10,Pfam:PF00013,PROSITE_profiles:PS50084,PANTHER:PTHR10288,PANTHER:PTHR10288:SF166,SMART:SM00322,Superfamily:SSF54791,CDD:cd00105 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 1 NA 0,1 NA NA . GCG . 3942.6 3.978e-06 NA NA NA NA NA 8.793e-06 NA NA 51958937 ABHD14A-ACY1 95 . GRCh38 chr3 51980408 51980408 + Missense_Mutation SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.332C>T p.Ala111Val p.A111V ENST00000637978 3/17 NA NA NA NA NA NA ABHD14A-ACY1,missense_variant,p.Ala111Val,ENST00000637978,NM_001316331.2;ABHD14A,missense_variant,p.Ala138Val,ENST00000273596,NM_015407.5;ABHD14A,missense_variant,p.Ala203Val,ENST00000497864,;ABHD14A,missense_variant,p.Ala133Val,ENST00000494478,;ABHD14A,intron_variant,,ENST00000458031,;ABHD14A-ACY1,intron_variant,,ENST00000463937,;ABHD14B,intron_variant,,ENST00000483233,;ABHD14A,intron_variant,,ENST00000491470,;ABHD14A-ACY1,intron_variant,,ENST00000635952,;ABHD14A-ACY1,intron_variant,,ENST00000637222,;ACY1,upstream_gene_variant,,ENST00000404366,;ACY1,upstream_gene_variant,,ENST00000469863,;ACY1,upstream_gene_variant,,ENST00000476351,NM_001198898.2;ACY1,upstream_gene_variant,,ENST00000476854,NM_001198897.2;ACY1,upstream_gene_variant,,ENST00000494103,NM_001198896.2;ACY1,upstream_gene_variant,,ENST00000635797,;ACY1,upstream_gene_variant,,ENST00000636358,NM_000666.3,NM_001198895.2;ACY1,upstream_gene_variant,,ENST00000636047,;ABHD14A-ACY1,intron_variant,,ENST00000463721,;ABHD14A-ACY1,intron_variant,,ENST00000486081,;ABHD14A-ACY1,intron_variant,,ENST00000497128,;ABHD14A-ACY1,intron_variant,,ENST00000635785,;ABHD14A-ACY1,intron_variant,,ENST00000635937,;ABHD14A-ACY1,intron_variant,,ENST00000635946,;ABHD14A-ACY1,intron_variant,,ENST00000635951,;ABHD14A-ACY1,intron_variant,,ENST00000636029,;ABHD14A-ACY1,intron_variant,,ENST00000636085,;ABHD14A-ACY1,intron_variant,,ENST00000636089,;ABHD14A-ACY1,intron_variant,,ENST00000636264,;ABHD14A-ACY1,intron_variant,,ENST00000636490,;ABHD14A-ACY1,intron_variant,,ENST00000636646,;ABHD14A-ACY1,intron_variant,,ENST00000636660,;ABHD14A-ACY1,intron_variant,,ENST00000636718,;ABHD14A-ACY1,intron_variant,,ENST00000636826,;ABHD14A-ACY1,intron_variant,,ENST00000636942,;ABHD14A-ACY1,intron_variant,,ENST00000637025,;ABHD14A-ACY1,intron_variant,,ENST00000637130,;ABHD14A-ACY1,intron_variant,,ENST00000637461,;ABHD14A-ACY1,intron_variant,,ENST00000637512,;ABHD14A-ACY1,intron_variant,,ENST00000637563,;ABHD14A-ACY1,intron_variant,,ENST00000637696,;ABHD14A-ACY1,intron_variant,,ENST00000637730,;ABHD14A-ACY1,intron_variant,,ENST00000637778,;ACY1,upstream_gene_variant,,ENST00000465121,;ACY1,upstream_gene_variant,,ENST00000468068,;ABHD14A,downstream_gene_variant,,ENST00000474575,;ACY1,upstream_gene_variant,,ENST00000491318,;ACY1,upstream_gene_variant,,ENST00000496679,;ACY1,upstream_gene_variant,,ENST00000635941,;ACY1,upstream_gene_variant,,ENST00000636556,;ACY1,upstream_gene_variant,,ENST00000636880,;ACY1,upstream_gene_variant,,ENST00000637209,;ACY1,upstream_gene_variant,,ENST00000637251,;ACY1,upstream_gene_variant,,ENST00000637349,;ACY1,upstream_gene_variant,,ENST00000637460,;ACY1,upstream_gene_variant,,ENST00000638136,; T ENSG00000114786 ENST00000637978 Transcript missense_variant 331/1758 332/1759 111/586 A/V gCa/gTa 1 NA 1 ABHD14A-ACY1 HGNC HGNC:38856 protein_coding YES ENSP00000490744 A0A1B0GW23.22 UPI0007E52B0F NM_001316331.2 deleterious_low_confidence(0) unknown(0) 3/17 Gene3D:3.40.50.1820,Pfam:PF12697,Superfamily:SSF53474 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE NA SNV 5 NA NA NA . GCA . 2898.6 NA NA NA NA NA NA NA NA NA 51980408 PPM1M 132160 . GRCh38 chr3 52245857 52245857 + Silent SNP G G A rs1336269452 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.33G>A p.Leu11= p.L11= ENST00000323588 1/10 NA NA NA NA NA NA PPM1M,synonymous_variant,p.Leu11=,ENST00000323588,NM_144641.4;TWF2,intron_variant,,ENST00000679296,;PPM1M,upstream_gene_variant,,ENST00000296487,;PPM1M,upstream_gene_variant,,ENST00000409502,NM_001122870.3;PPM1M,upstream_gene_variant,,ENST00000443681,;PPM1M,upstream_gene_variant,,ENST00000457454,;AC006252.1,downstream_gene_variant,,ENST00000464958,;AC006252.1,downstream_gene_variant,,ENST00000483834,;PPM1M,upstream_gene_variant,,ENST00000467471,;PPM1M,upstream_gene_variant,,ENST00000472955,;PPM1M,upstream_gene_variant,,ENST00000482724,;PPM1M,upstream_gene_variant,,ENST00000489606,;,regulatory_region_variant,,ENSR00001066383,;,TF_binding_site_variant,,ENSM00195267151,;,TF_binding_site_variant,,ENSM00167526302,; A ENSG00000164088 ENST00000323588 Transcript synonymous_variant 99/2231 33/1380 11/459 L ctG/ctA rs1336269452 1 NA 1 PPM1M HGNC HGNC:26506 protein_coding YES ENSP00000319894 B7XGB9.99 UPI00000472C7 NM_144641.4 1/10 Low_complexity_(Seg):seg,MobiDB_lite:mobidb-lite,PANTHER:PTHR13832,PANTHER:PTHR13832:SF236 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . TGC . 869.6 6.782e-05 NA NA NA NA NA 0.0001802 NA NA 52245857 DNAH1 25981 . GRCh38 chr3 52391305 52391305 + Missense_Mutation SNP C C A novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.9868C>A p.Leu3290Met p.L3290M ENST00000420323 62/78 NA NA NA NA NA NA DNAH1,missense_variant,p.Leu3290Met,ENST00000420323,NM_015512.5;DNAH1,missense_variant,p.Leu102Met,ENST00000480649,;DNAH1,missense_variant,p.Leu190Met,ENST00000490713,;DNAH1,non_coding_transcript_exon_variant,,ENST00000486752,;DNAH1,non_coding_transcript_exon_variant,,ENST00000488988,;DNAH1,upstream_gene_variant,,ENST00000487254,; A ENSG00000114841 ENST00000420323 Transcript missense_variant 10129/13104 9868/12798 3290/4265 L/M Ctg/Atg 1 NA 1 DNAH1 HGNC HGNC:2940 protein_coding YES CCDS46842.1 ENSP00000401514 Q9P2D7.145 A0A140VJI6.29 UPI00017EE9F6 NM_015512.5 deleterious(0) probably_damaging(0.997) 62/78 PANTHER:PTHR10676,PANTHER:PTHR10676:SF358,Pfam:PF12781,Gene3D:3.40.50.11510 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . CCT . 8699.6 NA NA NA NA NA NA NA NA NA 52391305 NT5DC2 64943 . GRCh38 chr3 52524681 52524681 + Missense_Mutation SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1463C>T p.Thr488Ile p.T488I ENST00000422318 14/14 NA NA NA NA NA NA NT5DC2,missense_variant,p.Thr451Ile,ENST00000307076,NM_022908.3;NT5DC2,missense_variant,p.Thr488Ile,ENST00000422318,NM_001134231.2;NT5DC2,missense_variant,p.Thr463Ile,ENST00000459839,;NT5DC2,intron_variant,,ENST00000463947,;STAB1,downstream_gene_variant,,ENST00000321725,NM_015136.3;STAB1,downstream_gene_variant,,ENST00000469989,;NT5DC2,downstream_gene_variant,,ENST00000471522,;NT5DC2,downstream_gene_variant,,ENST00000489316,;NT5DC2,downstream_gene_variant,,ENST00000487779,;NT5DC2,downstream_gene_variant,,ENST00000490681,;NT5DC2,3_prime_UTR_variant,,ENST00000492555,;NT5DC2,non_coding_transcript_exon_variant,,ENST00000462261,;NT5DC2,non_coding_transcript_exon_variant,,ENST00000466112,;NT5DC2,non_coding_transcript_exon_variant,,ENST00000469616,;NT5DC2,intron_variant,,ENST00000479024,;STAB1,downstream_gene_variant,,ENST00000461325,;STAB1,downstream_gene_variant,,ENST00000462681,;STAB1,downstream_gene_variant,,ENST00000462741,;NT5DC2,downstream_gene_variant,,ENST00000478091,;STAB1,downstream_gene_variant,,ENST00000481626,;NT5DC2,downstream_gene_variant,,ENST00000486792,; A ENSG00000168268 ENST00000422318 Transcript missense_variant 1583/1877 1463/1674 488/557 T/I aCc/aTc 1 NA -1 NT5DC2 HGNC HGNC:25717 protein_coding YES CCDS46843.1 ENSP00000406933 Q9H857.143 UPI00017C1445 NM_001134231.2 deleterious(0) probably_damaging(0.99) 14/14 CDD:cd07522,PANTHER:PTHR12103:SF14,PANTHER:PTHR12103,PIRSF:PIRSF017434,Pfam:PF05761,Superfamily:SSF56784 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE NA SNV 5 NA NA NA . GGT . 7664.6 NA NA NA NA NA NA NA NA NA 52524681 GNL3 26354 . GRCh38 chr3 52693486 52693486 + Silent SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1266C>T p.Asp422= p.D422= ENST00000418458 12/15 NA NA NA NA NA NA GNL3,synonymous_variant,p.Asp410=,ENST00000394799,NM_206825.1,NM_206826.1;GNL3,synonymous_variant,p.Asp422=,ENST00000418458,NM_014366.5;GLT8D1,downstream_gene_variant,,ENST00000266014,NM_018446.3;GLT8D1,downstream_gene_variant,,ENST00000394783,NM_152932.2;GLT8D1,downstream_gene_variant,,ENST00000478968,NM_001278281.1,NM_001278280.1,NM_001010983.2;GNL3,downstream_gene_variant,,ENST00000479230,;GLT8D1,downstream_gene_variant,,ENST00000479553,;GLT8D1,downstream_gene_variant,,ENST00000487642,;GLT8D1,downstream_gene_variant,,ENST00000491606,;GLT8D1,downstream_gene_variant,,ENST00000497436,;GLT8D1,downstream_gene_variant,,ENST00000497953,;SNORD69,downstream_gene_variant,,ENST00000391150,;SNORD19,downstream_gene_variant,,ENST00000391191,;SNORD19C,downstream_gene_variant,,ENST00000410413,;SNORD19B,downstream_gene_variant,,ENST00000459623,;AC104446.1,downstream_gene_variant,,ENST00000516978,;AC104446.3,downstream_gene_variant,,ENST00000630615,;GLT8D1,downstream_gene_variant,,ENST00000463827,;GNL3,downstream_gene_variant,,ENST00000468146,;GNL3,non_coding_transcript_exon_variant,,ENST00000496254,;GNL3,non_coding_transcript_exon_variant,,ENST00000497356,;GLT8D1,downstream_gene_variant,,ENST00000480080,;GLT8D1,downstream_gene_variant,,ENST00000481643,;GNL3,downstream_gene_variant,,ENST00000484022,;GLT8D1,downstream_gene_variant,,ENST00000484163,;GLT8D1,downstream_gene_variant,,ENST00000485899,;GNL3,downstream_gene_variant,,ENST00000492349,; T ENSG00000163938 ENST00000418458 Transcript synonymous_variant 1327/1933 1266/1650 422/549 D gaC/gaT 1 NA 1 GNL3 HGNC HGNC:29931 protein_coding YES CCDS2861.1 ENSP00000395772 Q9BVP2.176 UPI000003C48A NM_014366.5 12/15 PANTHER:PTHR11089:SF11,PANTHER:PTHR11089 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . ACA . 7453.6 NA NA NA NA NA NA NA NA NA 52693486 PRKCD 5580 . GRCh38 chr3 53179616 53179616 + Missense_Mutation SNP A A G rs782360444 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.155A>G p.Tyr52Cys p.Y52C ENST00000330452 4/19 NA NA NA NA NA NA PRKCD,missense_variant,p.Tyr52Cys,ENST00000330452,NM_006254.4,NM_001316327.2;PRKCD,missense_variant,p.Tyr52Cys,ENST00000394729,NM_212539.2;PRKCD,missense_variant,p.Tyr52Cys,ENST00000652449,NM_001354680.2;PRKCD,missense_variant,p.Tyr52Cys,ENST00000650739,NM_001354679.2;PRKCD,missense_variant,p.Tyr52Cys,ENST00000654719,NM_001354676.2,NM_001354678.2;PRKCD,missense_variant,p.Tyr52Cys,ENST00000650940,;PRKCD,missense_variant,p.Tyr52Cys,ENST00000464818,;PRKCD,missense_variant,p.Tyr52Cys,ENST00000478843,;PRKCD,missense_variant,p.Tyr52Cys,ENST00000487897,;PRKCD,downstream_gene_variant,,ENST00000477794,;PRKCD,upstream_gene_variant,,ENST00000651505,; G ENSG00000163932 ENST00000330452 Transcript missense_variant 506/2833 155/2031 52/676 Y/C tAt/tGt rs782360444 1 NA 1 PRKCD HGNC HGNC:9399 protein_coding YES CCDS2870.1 ENSP00000331602 Q05655.221 A0A024R328.50 UPI000000DA36 NM_006254.4,NM_001316327.2 tolerated(0.1) possibly_damaging(0.88) 4/19 PDB-ENSP_mappings:1yrk.A,PIRSF:PIRSF501104,Gene3D:2.60.40.150,PIRSF:PIRSF000551,Superfamily:SSF49562,PANTHER:PTHR24356:SF181,PANTHER:PTHR24356 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . TAT . 5784.6 3.978e-06 NA 2.892e-05 NA NA NA NA NA NA 53179616 CCDC66 285331 . GRCh38 chr3 56557250 56557251 + Nonsense_Mutation INS - - GGGGTAAGCA rs60235683 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.11+7_11+16dup ENST00000394672 1/18 NA NA NA NA NA NA CCDC66,stop_gained,,ENST00000394672,NM_001353147.1,NM_001353148.1,NM_001353150.1,NM_001353154.1,NM_001353149.1,NM_001353155.1,NM_001141947.3;CCDC66,stop_gained,,ENST00000422222,;CCDC66,intron_variant,,ENST00000326595,NM_001353160.1,NM_001353153.1,NM_001353152.1,NM_001353158.1,NM_001353156.1,NM_001353151.1,NM_001012506.5;CCDC66,non_coding_transcript_exon_variant,,ENST00000442522,;CCDC66,non_coding_transcript_exon_variant,,ENST00000472582,;CCDC66,non_coding_transcript_exon_variant,,ENST00000460838,;CCDC66,non_coding_transcript_exon_variant,,ENST00000459746,;CCDC66,upstream_gene_variant,,ENST00000469966,;CCDC66,upstream_gene_variant,,ENST00000484623,;CCDC66,stop_gained,,ENST00000341455,;CCDC66,stop_gained,,ENST00000434467,;CCDC66,stop_gained,,ENST00000422788,;CCDC66,stop_gained,,ENST00000439445,;CCDC66,intron_variant,,ENST00000471681,;CCDC66,upstream_gene_variant,,ENST00000487739,;,regulatory_region_variant,,ENSR00000152970,;,TF_binding_site_variant,,ENSM00000378336,;,TF_binding_site_variant,,ENSM00524378946,; GGGGTAAGCA ENSG00000180376 ENST00000394672 Transcript stop_gained,frameshift_variant 76-77/3134 8-9/2847 3/948 L/LG*AX ttg/ttGGGGTAAGCAg rs60235683 1 NA 1 CCDC66 HGNC HGNC:27709 protein_coding YES CCDS46852.1 ENSP00000378167 A2RUB6.101 UPI000020ADBC NM_001353147.1,NM_001353148.1,NM_001353150.1,NM_001353154.1,NM_001353149.1,NM_001353155.1,NM_001141947.3 1/18 PANTHER:PTHR22736 NA 0.5998 0.7911 NA 0.5407 0.8449 0.5276 0.5783 0.8221 benign 24033266 NA NA NA NA HIGH 1 insertion 1 NA 1 NA NA . TTG . 8307.06 NA NA NA NA NA NA NA NA NA 56557250 ARHGEF3 50650 . GRCh38 chr3 56958845 56958845 + Missense_Mutation SNP G G T novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.107C>A p.Pro36His p.P36H ENST00000338458 3/13 NA NA NA NA NA NA ARHGEF3,missense_variant,p.Pro36His,ENST00000338458,NM_001377411.1,NM_001377410.1,NM_001128615.2,NM_001377409.1,NM_001377408.1,NM_001377412.1,NM_001377407.1;ARHGEF3,missense_variant,p.Pro22His,ENST00000473779,;ARHGEF3,missense_variant,p.Pro5His,ENST00000468727,;ARHGEF3,missense_variant,p.Pro36His,ENST00000468466,;ARHGEF3-AS1,intron_variant,,ENST00000477246,;ARHGEF3,non_coding_transcript_exon_variant,,ENST00000477440,;ARHGEF3,missense_variant,p.Leu42Ile,ENST00000486829,;ARHGEF3,3_prime_UTR_variant,,ENST00000477833,; T ENSG00000163947 ENST00000338458 Transcript missense_variant 217/3639 107/1677 36/558 P/H cCt/cAt 1 NA -1 ARHGEF3 HGNC HGNC:683 protein_coding YES CCDS46854.1 ENSP00000341071 Q9NR81.163 UPI00001B3D98 NM_001377411.1,NM_001377410.1,NM_001128615.2,NM_001377409.1,NM_001377408.1,NM_001377412.1,NM_001377407.1 deleterious_low_confidence(0.01) possibly_damaging(0.62) 3/13 MobiDB_lite:mobidb-lite,PANTHER:PTHR46006:SF2,PANTHER:PTHR46006 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . AGG . 3149.6 NA NA NA NA NA NA NA NA NA 56958845 DNAH12 201625 . GRCh38 chr3 57368206 57368206 + Silent SNP T T C rs905856097 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.8814A>G p.Glu2938= p.E2938= ENST00000495027 56/74 NA NA NA NA NA NA DNAH12,synonymous_variant,p.Glu2938=,ENST00000495027,NM_001366028.2;DNAH12,intron_variant,,ENST00000351747,; C ENSG00000174844 ENST00000495027 Transcript synonymous_variant 8995/12146 8814/11883 2938/3960 E gaA/gaG rs905856097 1 NA -1 DNAH12 HGNC HGNC:2943 protein_coding YES ENSP00000418137 E9PG32.65 UPI0004620994 NM_001366028.2 56/74 PANTHER:PTHR10676,PANTHER:PTHR10676:SF255,Pfam:PF12781,Gene3D:3.40.50.11510 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . TTT . 3452.03 NA NA NA NA NA NA NA NA NA 57368206 DNAH12 201625 . GRCh38 chr3 57377088 57377088 + Silent SNP A A G rs36173105 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.8358T>C p.Leu2786= p.L2786= ENST00000495027 53/74 NA NA NA NA NA NA DNAH12,synonymous_variant,p.Leu2786=,ENST00000495027,NM_001366028.2;DNAH12,intron_variant,,ENST00000351747,;,regulatory_region_variant,,ENSR00001066896,; G ENSG00000174844 ENST00000495027 Transcript synonymous_variant 8539/12146 8358/11883 2786/3960 L ctT/ctC rs36173105 1 NA -1 DNAH12 HGNC HGNC:2943 protein_coding YES ENSP00000418137 E9PG32.65 UPI0004620994 NM_001366028.2 53/74 Coiled-coils_(Ncoils):Coil,PANTHER:PTHR10676,PANTHER:PTHR10676:SF255,Pfam:PF12777,Gene3D:1.20.920.20 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . CAA . 4101.03 NA NA NA NA NA NA NA NA NA 57377088 DNAH12 201625 . GRCh38 chr3 57392028 57392028 + Missense_Mutation SNP A A T rs62644530 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.7149T>A p.Asp2383Glu p.D2383E ENST00000495027 45/74 NA NA NA NA NA NA DNAH12,missense_variant,p.Asp2383Glu,ENST00000495027,NM_001366028.2;DNAH12,intron_variant,,ENST00000351747,; T ENSG00000174844 ENST00000495027 Transcript missense_variant 7330/12146 7149/11883 2383/3960 D/E gaT/gaA rs62644530 1 NA -1 DNAH12 HGNC HGNC:2943 protein_coding YES ENSP00000418137 E9PG32.65 UPI0004620994 NM_001366028.2 tolerated(0.81) benign(0) 45/74 PANTHER:PTHR10676,PANTHER:PTHR10676:SF255,Gene3D:3.40.50.300,Pfam:PF12780,Superfamily:SSF52540 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . CAT . 2440.03 NA NA NA NA NA NA NA NA NA 57392028 FRG2C 651959 . GRCh38 chr3 75664404 75664404 + Missense_Mutation SNP G G A rs201766868 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.25G>A p.Asp9Asn p.D9N ENST00000308062 1/4 NA NA NA NA NA NA FRG2C,missense_variant,p.Asp9Asn,ENST00000308062,NM_001124759.3;FRG2C,missense_variant,p.Asp9Asn,ENST00000464571,;RPL23AP49,intron_variant,,ENST00000638439,;DUX4L26,upstream_gene_variant,,ENST00000489078,; A ENSG00000172969 ENST00000308062 Transcript missense_variant 75/2078 25/849 9/282 D/N Gat/Aat rs201766868 1 NA 1 FRG2C HGNC HGNC:33626 protein_coding YES CCDS43108.1 ENSP00000312299 A6NGY1.94 UPI0000160BC9 NM_001124759.3 tolerated(0.17) probably_damaging(0.982) 1/4 MobiDB_lite:mobidb-lite,PANTHER:PTHR31883,PANTHER:PTHR31883:SF6,Prints:PR02074 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CGA . 2704.6 NA NA NA NA NA NA NA NA NA 75664404 FRG2C 651959 . GRCh38 chr3 75664413 75664413 + Missense_Mutation SNP T T C rs13073018 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.34T>C p.Cys12Arg p.C12R ENST00000308062 1/4 NA NA NA NA NA NA FRG2C,missense_variant,p.Cys12Arg,ENST00000308062,NM_001124759.3;FRG2C,missense_variant,p.Cys12Arg,ENST00000464571,;RPL23AP49,intron_variant,,ENST00000638439,;DUX4L26,upstream_gene_variant,,ENST00000489078,; C ENSG00000172969 ENST00000308062 Transcript missense_variant 84/2078 34/849 12/282 C/R Tgt/Cgt rs13073018 1 NA 1 FRG2C HGNC HGNC:33626 protein_coding YES CCDS43108.1 ENSP00000312299 A6NGY1.94 UPI0000160BC9 NM_001124759.3 tolerated(0.19) benign(0.029) 1/4 MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite,PANTHER:PTHR31883,PANTHER:PTHR31883:SF6,Prints:PR02074 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CTG . 4240.6 NA NA NA NA NA NA NA NA NA 75664413 FRG2C 651959 . GRCh38 chr3 75664415 75664415 + Silent SNP T T C rs74910647 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.36T>C p.Cys12= p.C12= ENST00000308062 1/4 NA NA NA NA NA NA FRG2C,synonymous_variant,p.Cys12=,ENST00000308062,NM_001124759.3;FRG2C,synonymous_variant,p.Cys12=,ENST00000464571,;RPL23AP49,intron_variant,,ENST00000638439,;DUX4L26,upstream_gene_variant,,ENST00000489078,; C ENSG00000172969 ENST00000308062 Transcript synonymous_variant 86/2078 36/849 12/282 C tgT/tgC rs74910647 1 NA 1 FRG2C HGNC HGNC:33626 protein_coding YES CCDS43108.1 ENSP00000312299 A6NGY1.94 UPI0000160BC9 NM_001124759.3 1/4 MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite,PANTHER:PTHR31883,PANTHER:PTHR31883:SF6,Prints:PR02074 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . GTT . 8947.6 NA NA NA NA NA NA NA NA NA 75664415 FRG2C 651959 . GRCh38 chr3 75665147 75665147 + Missense_Mutation SNP A A G rs74714110 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.278A>G p.Gln93Arg p.Q93R ENST00000308062 3/4 NA NA NA NA NA NA FRG2C,missense_variant,p.Gln93Arg,ENST00000308062,NM_001124759.3;FRG2C,missense_variant,p.Gln92Arg,ENST00000464571,;RPL23AP49,intron_variant,,ENST00000638439,;DUX4L26,upstream_gene_variant,,ENST00000489078,; G ENSG00000172969 ENST00000308062 Transcript missense_variant 328/2078 278/849 93/282 Q/R cAg/cGg rs74714110 1 NA 1 FRG2C HGNC HGNC:33626 protein_coding YES CCDS43108.1 ENSP00000312299 A6NGY1.94 UPI0000160BC9 NM_001124759.3 tolerated(0.64) benign(0) 3/4 MobiDB_lite:mobidb-lite,PANTHER:PTHR31883,PANTHER:PTHR31883:SF6,Pfam:PF15315 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CAG . 4165.6 NA NA NA NA NA NA NA NA NA 75665147 FRG2C 651959 . GRCh38 chr3 75665160 75665160 + Silent SNP G G A rs79850029 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.291G>A p.Arg97= p.R97= ENST00000308062 3/4 NA NA NA NA NA NA FRG2C,synonymous_variant,p.Arg97=,ENST00000308062,NM_001124759.3;FRG2C,synonymous_variant,p.Arg96=,ENST00000464571,;RPL23AP49,intron_variant,,ENST00000638439,;DUX4L26,upstream_gene_variant,,ENST00000489078,; A ENSG00000172969 ENST00000308062 Transcript synonymous_variant 341/2078 291/849 97/282 R agG/agA rs79850029 1 NA 1 FRG2C HGNC HGNC:33626 protein_coding YES CCDS43108.1 ENSP00000312299 A6NGY1.94 UPI0000160BC9 NM_001124759.3 3/4 PANTHER:PTHR31883,PANTHER:PTHR31883:SF6,Pfam:PF15315 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . GGA . 2161.6 NA NA NA NA NA NA NA NA NA 75665160 FRG2C 651959 . GRCh38 chr3 75665186 75665186 + Missense_Mutation SNP T T G rs73840323 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.317T>G p.Ile106Ser p.I106S ENST00000308062 3/4 NA NA NA NA NA NA FRG2C,missense_variant,p.Ile106Ser,ENST00000308062,NM_001124759.3;FRG2C,missense_variant,p.Ile105Ser,ENST00000464571,;RPL23AP49,intron_variant,,ENST00000638439,;DUX4L26,upstream_gene_variant,,ENST00000489078,; G ENSG00000172969 ENST00000308062 Transcript missense_variant 367/2078 317/849 106/282 I/S aTc/aGc rs73840323 1 NA 1 FRG2C HGNC HGNC:33626 protein_coding YES CCDS43108.1 ENSP00000312299 A6NGY1.94 UPI0000160BC9 NM_001124759.3 tolerated(1) benign(0) 3/4 PANTHER:PTHR31883,PANTHER:PTHR31883:SF6,Pfam:PF15315 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . ATC . 4263.6 NA NA NA NA NA NA NA NA NA 75665186 FRG2C 651959 . GRCh38 chr3 75665551 75665551 + Missense_Mutation SNP A A G rs62247157 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.359A>G p.Asn120Ser p.N120S ENST00000308062 4/4 NA NA NA NA NA NA FRG2C,missense_variant,p.Asn120Ser,ENST00000308062,NM_001124759.3;FRG2C,missense_variant,p.Asn119Ser,ENST00000464571,;RPL23AP49,intron_variant,,ENST00000638439,;DUX4L26,upstream_gene_variant,,ENST00000489078,; G ENSG00000172969 ENST00000308062 Transcript missense_variant 409/2078 359/849 120/282 N/S aAc/aGc rs62247157 1 NA 1 FRG2C HGNC HGNC:33626 protein_coding YES CCDS43108.1 ENSP00000312299 A6NGY1.94 UPI0000160BC9 NM_001124759.3 tolerated(1) benign(0) 4/4 PANTHER:PTHR31883,PANTHER:PTHR31883:SF6,Pfam:PF15315 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . AAC . 4308.6 NA NA NA NA NA NA NA NA NA 75665551 FRG2C 651959 . GRCh38 chr3 75665558 75665558 + Silent SNP G G T rs75314787 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.366G>T p.Thr122= p.T122= ENST00000308062 4/4 NA NA NA NA NA NA FRG2C,synonymous_variant,p.Thr122=,ENST00000308062,NM_001124759.3;FRG2C,synonymous_variant,p.Thr121=,ENST00000464571,;RPL23AP49,intron_variant,,ENST00000638439,;DUX4L26,upstream_gene_variant,,ENST00000489078,; T ENSG00000172969 ENST00000308062 Transcript synonymous_variant 416/2078 366/849 122/282 T acG/acT rs75314787,COSV57318983 1 NA 1 FRG2C HGNC HGNC:33626 protein_coding YES CCDS43108.1 ENSP00000312299 A6NGY1.94 UPI0000160BC9 NM_001124759.3 4/4 PANTHER:PTHR31883,PANTHER:PTHR31883:SF6,Pfam:PF15315 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA LOW 1 SNV 1 NA 0,1 NA NA . CGT . 1123.6 NA NA NA NA NA NA NA NA NA 75665558 FRG2C 651959 . GRCh38 chr3 75665620 75665620 + Missense_Mutation SNP A A G rs79973298 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.428A>G p.Asp143Gly p.D143G ENST00000308062 4/4 NA NA NA NA NA NA FRG2C,missense_variant,p.Asp143Gly,ENST00000308062,NM_001124759.3;FRG2C,missense_variant,p.Asp142Gly,ENST00000464571,;RPL23AP49,intron_variant,,ENST00000638439,;DUX4L26,upstream_gene_variant,,ENST00000489078,; G ENSG00000172969 ENST00000308062 Transcript missense_variant 478/2078 428/849 143/282 D/G gAt/gGt rs79973298 1 NA 1 FRG2C HGNC HGNC:33626 protein_coding YES CCDS43108.1 ENSP00000312299 A6NGY1.94 UPI0000160BC9 NM_001124759.3 tolerated(0.34) probably_damaging(0.943) 4/4 PANTHER:PTHR31883,PANTHER:PTHR31883:SF6,Pfam:PF15315,Prints:PR02074 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . GAT . 1893.6 NA NA NA NA NA NA NA NA NA 75665620 FRG2C 651959 . GRCh38 chr3 75665637 75665637 + Missense_Mutation SNP A A C rs77229582 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.445A>C p.Ser149Arg p.S149R ENST00000308062 4/4 NA NA NA NA NA NA FRG2C,missense_variant,p.Ser149Arg,ENST00000308062,NM_001124759.3;FRG2C,missense_variant,p.Ser148Arg,ENST00000464571,;RPL23AP49,intron_variant,,ENST00000638439,;DUX4L26,upstream_gene_variant,,ENST00000489078,; C ENSG00000172969 ENST00000308062 Transcript missense_variant 495/2078 445/849 149/282 S/R Agt/Cgt rs77229582 1 NA 1 FRG2C HGNC HGNC:33626 protein_coding YES CCDS43108.1 ENSP00000312299 A6NGY1.94 UPI0000160BC9 NM_001124759.3 tolerated(0.61) benign(0) 4/4 PANTHER:PTHR31883,PANTHER:PTHR31883:SF6,Pfam:PF15315 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . AAG . 6678.6 NA NA NA NA NA NA NA NA NA 75665637 FRG2C 651959 . GRCh38 chr3 75665658 75665658 + Missense_Mutation SNP C C T rs77371781 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.466C>T p.Arg156Cys p.R156C ENST00000308062 4/4 NA NA NA NA NA NA FRG2C,missense_variant,p.Arg156Cys,ENST00000308062,NM_001124759.3;FRG2C,missense_variant,p.Arg155Cys,ENST00000464571,;RPL23AP49,intron_variant,,ENST00000638439,;DUX4L26,upstream_gene_variant,,ENST00000489078,; T ENSG00000172969 ENST00000308062 Transcript missense_variant 516/2078 466/849 156/282 R/C Cgc/Tgc rs77371781 1 NA 1 FRG2C HGNC HGNC:33626 protein_coding YES CCDS43108.1 ENSP00000312299 A6NGY1.94 UPI0000160BC9 NM_001124759.3 tolerated(0.23) benign(0) 4/4 PANTHER:PTHR31883,PANTHER:PTHR31883:SF6,Pfam:PF15315,Prints:PR02074 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . GCG . 7948.6 NA NA NA NA NA NA NA NA NA 75665658 FRG2C 651959 . GRCh38 chr3 75665668 75665668 + Missense_Mutation SNP G G A rs74497996 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.476G>A p.Arg159Gln p.R159Q ENST00000308062 4/4 NA NA NA NA NA NA FRG2C,missense_variant,p.Arg159Gln,ENST00000308062,NM_001124759.3;FRG2C,missense_variant,p.Arg158Gln,ENST00000464571,;RPL23AP49,intron_variant,,ENST00000638439,;DUX4L26,upstream_gene_variant,,ENST00000489078,; A ENSG00000172969 ENST00000308062 Transcript missense_variant 526/2078 476/849 159/282 R/Q cGg/cAg rs74497996,COSV57310006 1 NA 1 FRG2C HGNC HGNC:33626 protein_coding YES CCDS43108.1 ENSP00000312299 A6NGY1.94 UPI0000160BC9 NM_001124759.3 tolerated(0.21) benign(0) 4/4 PANTHER:PTHR31883,PANTHER:PTHR31883:SF6,Pfam:PF15315,Prints:PR02074 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 1 NA 0,1 NA NA . CGG . 8633.6 NA NA NA NA NA NA NA NA NA 75665668 FRG2C 651959 . GRCh38 chr3 75665674 75665674 + Frame_Shift_Del DEL G G - rs373728386 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.483del p.Arg161SerfsTer5 p.R161Sfs*5 ENST00000308062 4/4 NA NA NA NA NA NA FRG2C,frameshift_variant,p.Arg161SerfsTer5,ENST00000308062,NM_001124759.3;FRG2C,frameshift_variant,p.Arg160SerfsTer5,ENST00000464571,;RPL23AP49,intron_variant,,ENST00000638439,;DUX4L26,upstream_gene_variant,,ENST00000489078,; - ENSG00000172969 ENST00000308062 Transcript frameshift_variant 532/2078 482/849 161/282 R/X aGg/ag rs373728386 1 NA 1 FRG2C HGNC HGNC:33626 protein_coding YES CCDS43108.1 ENSP00000312299 A6NGY1.94 UPI0000160BC9 NM_001124759.3 4/4 PANTHER:PTHR31883,PANTHER:PTHR31883:SF6,Pfam:PF15315,Prints:PR02074 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 1 NA NA . TAGG . 3932.6 NA NA NA NA NA NA NA NA NA 75665673 FRG2C 651959 . GRCh38 chr3 75665680 75665680 + Missense_Mutation SNP G G A rs138192454 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.488G>A p.Arg163Gln p.R163Q ENST00000308062 4/4 NA NA NA NA NA NA FRG2C,missense_variant,p.Arg163Gln,ENST00000308062,NM_001124759.3;FRG2C,missense_variant,p.Arg162Gln,ENST00000464571,;RPL23AP49,intron_variant,,ENST00000638439,;DUX4L26,upstream_gene_variant,,ENST00000489078,; A ENSG00000172969 ENST00000308062 Transcript missense_variant 538/2078 488/849 163/282 R/Q cGg/cAg rs138192454 1 NA 1 FRG2C HGNC HGNC:33626 protein_coding YES CCDS43108.1 ENSP00000312299 A6NGY1.94 UPI0000160BC9 NM_001124759.3 tolerated(0.18) benign(0) 4/4 PANTHER:PTHR31883,PANTHER:PTHR31883:SF6,Pfam:PF15315,Prints:PR02074 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CGG . 8863.6 NA NA NA NA NA NA NA NA NA 75665680 FRG2C 651959 . GRCh38 chr3 75665684 75665684 + Silent SNP C C T rs150744016 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.492C>T p.Ala164= p.A164= ENST00000308062 4/4 NA NA NA NA NA NA FRG2C,synonymous_variant,p.Ala164=,ENST00000308062,NM_001124759.3;FRG2C,synonymous_variant,p.Ala163=,ENST00000464571,;RPL23AP49,intron_variant,,ENST00000638439,;DUX4L26,upstream_gene_variant,,ENST00000489078,; T ENSG00000172969 ENST00000308062 Transcript synonymous_variant 542/2078 492/849 164/282 A gcC/gcT rs150744016 1 NA 1 FRG2C HGNC HGNC:33626 protein_coding YES CCDS43108.1 ENSP00000312299 A6NGY1.94 UPI0000160BC9 NM_001124759.3 4/4 PANTHER:PTHR31883,PANTHER:PTHR31883:SF6,Pfam:PF15315,Prints:PR02074 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . CCC . 9128.6 NA NA NA NA NA NA NA NA NA 75665684 FRG2C 651959 . GRCh38 chr3 75665689 75665689 + Missense_Mutation SNP A A G rs77669108 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.497A>G p.Glu166Gly p.E166G ENST00000308062 4/4 NA NA NA NA NA NA FRG2C,missense_variant,p.Glu166Gly,ENST00000308062,NM_001124759.3;FRG2C,missense_variant,p.Glu165Gly,ENST00000464571,;RPL23AP49,intron_variant,,ENST00000638439,;DUX4L26,upstream_gene_variant,,ENST00000489078,; G ENSG00000172969 ENST00000308062 Transcript missense_variant 547/2078 497/849 166/282 E/G gAa/gGa rs77669108 1 NA 1 FRG2C HGNC HGNC:33626 protein_coding YES CCDS43108.1 ENSP00000312299 A6NGY1.94 UPI0000160BC9 NM_001124759.3 tolerated(1) benign(0) 4/4 PANTHER:PTHR31883,PANTHER:PTHR31883:SF6,Pfam:PF15315,Prints:PR02074 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . GAA . 8670.6 NA NA NA NA NA NA NA NA NA 75665689 FRG2C 651959 . GRCh38 chr3 75665744 75665744 + Silent SNP G G A rs1417477394 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.552G>A p.Ser184= p.S184= ENST00000308062 4/4 NA NA NA NA NA NA FRG2C,synonymous_variant,p.Ser184=,ENST00000308062,NM_001124759.3;FRG2C,synonymous_variant,p.Ser183=,ENST00000464571,;RPL23AP49,intron_variant,,ENST00000638439,;DUX4L26,upstream_gene_variant,,ENST00000489078,; A ENSG00000172969 ENST00000308062 Transcript synonymous_variant 602/2078 552/849 184/282 S tcG/tcA rs1417477394 1 NA 1 FRG2C HGNC HGNC:33626 protein_coding YES CCDS43108.1 ENSP00000312299 A6NGY1.94 UPI0000160BC9 NM_001124759.3 4/4 PANTHER:PTHR31883,PANTHER:PTHR31883:SF6,Pfam:PF15315,Prints:PR02074 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . CGG . 308.6 NA NA NA NA NA NA NA NA NA 75665744 FRG2C 651959 . GRCh38 chr3 75665747 75665747 + Silent SNP G G A rs62247159 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.555G>A p.Glu185= p.E185= ENST00000308062 4/4 NA NA NA NA NA NA FRG2C,synonymous_variant,p.Glu185=,ENST00000308062,NM_001124759.3;FRG2C,synonymous_variant,p.Glu184=,ENST00000464571,;RPL23AP49,intron_variant,,ENST00000638439,;DUX4L26,upstream_gene_variant,,ENST00000489078,; A ENSG00000172969 ENST00000308062 Transcript synonymous_variant 605/2078 555/849 185/282 E gaG/gaA rs62247159 1 NA 1 FRG2C HGNC HGNC:33626 protein_coding YES CCDS43108.1 ENSP00000312299 A6NGY1.94 UPI0000160BC9 NM_001124759.3 4/4 PANTHER:PTHR31883,PANTHER:PTHR31883:SF6,Pfam:PF15315,Prints:PR02074 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . AGG . 9371.6 NA NA NA NA NA NA NA NA NA 75665747 FRG2C 651959 . GRCh38 chr3 75665820 75665820 + Missense_Mutation SNP C C A rs13096122 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.628C>A p.Leu210Met p.L210M ENST00000308062 4/4 NA NA NA NA NA NA FRG2C,missense_variant,p.Leu210Met,ENST00000308062,NM_001124759.3;FRG2C,missense_variant,p.Leu209Met,ENST00000464571,;RPL23AP49,intron_variant,,ENST00000638439,;DUX4L26,upstream_gene_variant,,ENST00000489078,; A ENSG00000172969 ENST00000308062 Transcript missense_variant 678/2078 628/849 210/282 L/M Ctg/Atg rs13096122 1 NA 1 FRG2C HGNC HGNC:33626 protein_coding YES CCDS43108.1 ENSP00000312299 A6NGY1.94 UPI0000160BC9 NM_001124759.3 tolerated(0.15) possibly_damaging(0.731) 4/4 PANTHER:PTHR31883,PANTHER:PTHR31883:SF6,Pfam:PF15315 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . ACT . 3299.6 NA NA NA NA NA NA NA NA NA 75665820 FRG2C 651959 . GRCh38 chr3 75665825 75665825 + Silent SNP C C T rs62247960 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.633C>T p.Leu211= p.L211= ENST00000308062 4/4 NA NA NA NA NA NA FRG2C,synonymous_variant,p.Leu211=,ENST00000308062,NM_001124759.3;FRG2C,synonymous_variant,p.Leu210=,ENST00000464571,;RPL23AP49,intron_variant,,ENST00000638439,;DUX4L26,upstream_gene_variant,,ENST00000489078,; T ENSG00000172969 ENST00000308062 Transcript synonymous_variant 683/2078 633/849 211/282 L ctC/ctT rs62247960 1 NA 1 FRG2C HGNC HGNC:33626 protein_coding YES CCDS43108.1 ENSP00000312299 A6NGY1.94 UPI0000160BC9 NM_001124759.3 4/4 PANTHER:PTHR31883,PANTHER:PTHR31883:SF6,Pfam:PF15315 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . TCA . 10316.6 NA NA NA NA NA NA NA NA NA 75665825 FRG2C 651959 . GRCh38 chr3 75665936 75665936 + Silent SNP T T A rs62247961 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.744T>A p.Pro248= p.P248= ENST00000308062 4/4 NA NA NA NA NA NA FRG2C,synonymous_variant,p.Pro248=,ENST00000308062,NM_001124759.3;FRG2C,synonymous_variant,p.Pro247=,ENST00000464571,;RPL23AP49,intron_variant,,ENST00000638439,;DUX4L26,upstream_gene_variant,,ENST00000489078,; A ENSG00000172969 ENST00000308062 Transcript synonymous_variant 794/2078 744/849 248/282 P ccT/ccA rs62247961 1 NA 1 FRG2C HGNC HGNC:33626 protein_coding YES CCDS43108.1 ENSP00000312299 A6NGY1.94 UPI0000160BC9 NM_001124759.3 4/4 PANTHER:PTHR31883,PANTHER:PTHR31883:SF6,Prints:PR02074 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . CTG . 5273.6 NA NA NA NA NA NA NA NA NA 75665936 FRG2C 651959 . GRCh38 chr3 75665948 75665948 + Missense_Mutation SNP T T A rs2118760 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.756T>A p.Asp252Glu p.D252E ENST00000308062 4/4 NA NA NA NA NA NA FRG2C,missense_variant,p.Asp252Glu,ENST00000308062,NM_001124759.3;FRG2C,missense_variant,p.Asp251Glu,ENST00000464571,;RPL23AP49,intron_variant,,ENST00000638439,;DUX4L26,upstream_gene_variant,,ENST00000489078,; A ENSG00000172969 ENST00000308062 Transcript missense_variant 806/2078 756/849 252/282 D/E gaT/gaA rs2118760 1 NA 1 FRG2C HGNC HGNC:33626 protein_coding YES CCDS43108.1 ENSP00000312299 A6NGY1.94 UPI0000160BC9 NM_001124759.3 tolerated(0.09) benign(0) 4/4 MobiDB_lite:mobidb-lite,PANTHER:PTHR31883,PANTHER:PTHR31883:SF6 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . ATT . 4612.6 NA NA NA NA NA NA NA NA NA 75665948 ZNF717 100131827 . GRCh38 chr3 75737667 75737675 + In_Frame_Del DEL ACATTCATT ACATTCATT - rs57577072 NA HCI-EC-23 NORMAL ACATTCATT ACATTCATT NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1948_1956del p.Asn650_Cys652del p.N650_C652del ENST00000652011 5/5 NA NA NA NA NA NA ZNF717,inframe_deletion,p.Asn650_Cys652del,ENST00000652011,NM_001290208.3,NM_001128223.3;ZNF717,inframe_deletion,p.Asn600_Cys602del,ENST00000478296,NM_001290209.3;ZNF717,intron_variant,,ENST00000477374,NM_001290210.2,NM_001324026.2,NM_001324028.1,NM_001324027.1;ZNF717,downstream_gene_variant,,ENST00000468296,;ZNF717,downstream_gene_variant,,ENST00000471541,;LINC00960,intron_variant,,ENST00000668145,;MIR4273,upstream_gene_variant,,ENST00000582824,;ZNF717,intron_variant,,ENST00000491507,;ZNF717,intron_variant,,ENST00000648506,; - ENSG00000227124 ENST00000652011 Transcript inframe_deletion 2116-2124/3923 1948-1956/2745 650-652/914 NEC/- AATGAATGT/- rs57577072 1 NA -1 ZNF717 HGNC HGNC:29448 protein_coding YES ENSP00000498738 A0A494C0W3.9 UPI000176161D NM_001290208.3,NM_001128223.3 5/5 Gene3D:3.30.160.60,Pfam:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,PANTHER:PTHR24376,PANTHER:PTHR24376:SF153,SMART:SM00355,Superfamily:SSF57667 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 deletion NA NA NA NA . CCACATTCATTA . 5225.6 NA NA NA NA NA NA NA NA NA 75737666 ZNF717 100131827 . GRCh38 chr3 75737791 75737791 + Missense_Mutation SNP C C A rs2918517 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1832G>T p.Arg611Ile p.R611I ENST00000652011 5/5 NA NA NA NA NA NA ZNF717,missense_variant,p.Arg611Ile,ENST00000652011,NM_001290208.3,NM_001128223.3;ZNF717,missense_variant,p.Arg561Ile,ENST00000478296,NM_001290209.3;ZNF717,intron_variant,,ENST00000477374,NM_001290210.2,NM_001324026.2,NM_001324028.1,NM_001324027.1;ZNF717,downstream_gene_variant,,ENST00000468296,;ZNF717,downstream_gene_variant,,ENST00000471541,;LINC00960,intron_variant,,ENST00000668145,;MIR4273,upstream_gene_variant,,ENST00000582824,;ZNF717,intron_variant,,ENST00000491507,;ZNF717,intron_variant,,ENST00000648506,; A ENSG00000227124 ENST00000652011 Transcript missense_variant 2000/3923 1832/2745 611/914 R/I aGa/aTa rs2918517 1 NA -1 ZNF717 HGNC HGNC:29448 protein_coding YES ENSP00000498738 A0A494C0W3.9 UPI000176161D NM_001290208.3,NM_001128223.3 tolerated(0.08) benign(0.129) 5/5 Gene3D:3.30.160.60,Pfam:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,PANTHER:PTHR24376,PANTHER:PTHR24376:SF153,SMART:SM00355,Superfamily:SSF57667 4e-04 8e-04 NA NA 0.001 NA NA NA NA NA NA NA NA MODERATE 1 SNV NA NA NA NA . TCT . 2443.6 2.048e-05 0.0002904 NA NA NA NA NA 0.0002398 NA 75737791 ZNF717 100131827 . GRCh38 chr3 75738019 75738019 + Missense_Mutation SNP T T C novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1604A>G p.Tyr535Cys p.Y535C ENST00000652011 5/5 NA NA NA NA NA NA ZNF717,missense_variant,p.Tyr535Cys,ENST00000652011,NM_001290208.3,NM_001128223.3;ZNF717,missense_variant,p.Tyr485Cys,ENST00000478296,NM_001290209.3;ZNF717,intron_variant,,ENST00000477374,NM_001290210.2,NM_001324026.2,NM_001324028.1,NM_001324027.1;ZNF717,downstream_gene_variant,,ENST00000468296,;ZNF717,downstream_gene_variant,,ENST00000471541,;LINC00960,intron_variant,,ENST00000668145,;MIR4273,upstream_gene_variant,,ENST00000582824,;ZNF717,intron_variant,,ENST00000491507,;ZNF717,intron_variant,,ENST00000648506,; C ENSG00000227124 ENST00000652011 Transcript missense_variant 1772/3923 1604/2745 535/914 Y/C tAc/tGc 1 NA -1 ZNF717 HGNC HGNC:29448 protein_coding YES ENSP00000498738 A0A494C0W3.9 UPI000176161D NM_001290208.3,NM_001128223.3 deleterious(0) probably_damaging(0.987) 5/5 Gene3D:3.30.160.60,Pfam:PF00096,PROSITE_profiles:PS50157,PANTHER:PTHR24376,PANTHER:PTHR24376:SF153,SMART:SM00355,Superfamily:SSF57667 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV NA NA NA NA . GTA . 3048.6 NA NA NA NA NA NA NA NA NA 75738019 ZNF717 100131827 . GRCh38 chr3 75738575 75738575 + Missense_Mutation SNP G G A rs1962893 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1048C>T p.Arg350Cys p.R350C ENST00000652011 5/5 NA NA NA NA NA NA ZNF717,missense_variant,p.Arg350Cys,ENST00000652011,NM_001290208.3,NM_001128223.3;ZNF717,missense_variant,p.Arg300Cys,ENST00000478296,NM_001290209.3;ZNF717,intron_variant,,ENST00000477374,NM_001290210.2,NM_001324026.2,NM_001324028.1,NM_001324027.1;ZNF717,downstream_gene_variant,,ENST00000468296,;ZNF717,downstream_gene_variant,,ENST00000471541,;LINC00960,intron_variant,,ENST00000668145,;MIR4273,downstream_gene_variant,,ENST00000582824,;ZNF717,intron_variant,,ENST00000491507,;ZNF717,intron_variant,,ENST00000648506,; A ENSG00000227124 ENST00000652011 Transcript missense_variant 1216/3923 1048/2745 350/914 R/C Cgt/Tgt rs1962893 1 NA -1 ZNF717 HGNC HGNC:29448 protein_coding YES ENSP00000498738 A0A494C0W3.9 UPI000176161D NM_001290208.3,NM_001128223.3 deleterious(0.04) possibly_damaging(0.862) 5/5 Gene3D:3.30.160.60,Pfam:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,PANTHER:PTHR24376,PANTHER:PTHR24376:SF153,SMART:SM00355,Superfamily:SSF57667 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV NA NA NA NA . CGG . 9700.6 2.129e-05 NA NA NA NA NA NA NA 0.0001587 75738575 ZNF717 100131827 . GRCh38 chr3 75739007 75739007 + Missense_Mutation SNP G G C rs3009004 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.616C>G p.Leu206Val p.L206V ENST00000652011 5/5 NA NA NA NA NA NA ZNF717,missense_variant,p.Leu206Val,ENST00000652011,NM_001290208.3,NM_001128223.3;ZNF717,missense_variant,p.Leu156Val,ENST00000478296,NM_001290209.3;ZNF717,intron_variant,,ENST00000477374,NM_001290210.2,NM_001324026.2,NM_001324028.1,NM_001324027.1;ZNF717,downstream_gene_variant,,ENST00000468296,;ZNF717,downstream_gene_variant,,ENST00000471541,;LINC00960,intron_variant,,ENST00000668145,;MIR4273,downstream_gene_variant,,ENST00000582824,;ZNF717,intron_variant,,ENST00000491507,;ZNF717,intron_variant,,ENST00000648506,; C ENSG00000227124 ENST00000652011 Transcript missense_variant 784/3923 616/2745 206/914 L/V Ctg/Gtg rs3009004 1 NA -1 ZNF717 HGNC HGNC:29448 protein_coding YES ENSP00000498738 A0A494C0W3.9 UPI000176161D NM_001290208.3,NM_001128223.3 tolerated(0.15) benign(0.088) 5/5 Gene3D:3.30.160.60,PANTHER:PTHR24376,PANTHER:PTHR24376:SF153,Superfamily:SSF57667 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV NA NA NA NA . AGC . 3902.6 NA NA NA NA NA NA NA NA NA 75739007 ZNF717 100131827 . GRCh38 chr3 75741293 75741293 + Missense_Mutation SNP G G A rs1971517 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.260C>T p.Pro87Leu p.P87L ENST00000652011 4/5 NA NA NA NA NA NA ZNF717,missense_variant,p.Pro87Leu,ENST00000652011,NM_001290208.3,NM_001128223.3;ZNF717,missense_variant,p.Pro37Leu,ENST00000478296,NM_001290209.3;ZNF717,missense_variant,p.Pro87Leu,ENST00000477374,NM_001290210.2,NM_001324026.2,NM_001324028.1,NM_001324027.1;ZNF717,missense_variant,p.Pro87Leu,ENST00000468296,;ZNF717,missense_variant,p.Pro37Leu,ENST00000471541,;LINC00960,non_coding_transcript_exon_variant,,ENST00000668145,;MIR4273,downstream_gene_variant,,ENST00000582824,;ZNF717,non_coding_transcript_exon_variant,,ENST00000491507,;ZNF717,non_coding_transcript_exon_variant,,ENST00000648506,; A ENSG00000227124 ENST00000652011 Transcript missense_variant 428/3923 260/2745 87/914 P/L cCa/cTa rs1971517 1 NA -1 ZNF717 HGNC HGNC:29448 protein_coding YES ENSP00000498738 A0A494C0W3.9 UPI000176161D NM_001290208.3,NM_001128223.3 tolerated(0.54) benign(0.052) 4/5 PROSITE_profiles:PS50805,PANTHER:PTHR24376,PANTHER:PTHR24376:SF153 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV NA NA NA NA . TGG . 3026.03 NA NA NA NA NA NA NA NA NA 75741293 ZNF717 100131827 . GRCh38 chr3 75741671 75741671 + Silent SNP A A G rs2918520 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.123T>C p.Asp41= p.D41= ENST00000652011 3/5 NA NA NA NA NA NA ZNF717,synonymous_variant,p.Asp41=,ENST00000652011,NM_001290208.3,NM_001128223.3;ZNF717,synonymous_variant,p.Asp41=,ENST00000477374,NM_001290210.2,NM_001324026.2,NM_001324028.1,NM_001324027.1;ZNF717,synonymous_variant,p.Asp41=,ENST00000468296,;ZNF717,5_prime_UTR_variant,,ENST00000478296,NM_001290209.3;ZNF717,5_prime_UTR_variant,,ENST00000471541,;LINC00960,non_coding_transcript_exon_variant,,ENST00000668145,;MIR4273,downstream_gene_variant,,ENST00000582824,;ZNF717,non_coding_transcript_exon_variant,,ENST00000491507,;ZNF717,non_coding_transcript_exon_variant,,ENST00000648506,; G ENSG00000227124 ENST00000652011 Transcript synonymous_variant 291/3923 123/2745 41/914 D gaT/gaC rs2918520 1 NA -1 ZNF717 HGNC HGNC:29448 protein_coding YES ENSP00000498738 A0A494C0W3.9 UPI000176161D NM_001290208.3,NM_001128223.3 3/5 Pfam:PF01352,PROSITE_profiles:PS50805,PANTHER:PTHR24376,PANTHER:PTHR24376:SF153,SMART:SM00349,Superfamily:SSF109640,CDD:cd07765 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV NA NA NA NA . CAT . 5840.03 NA NA NA NA NA NA NA NA NA 75741671 ROBO2 6092 . GRCh38 chr3 77644782 77644782 + Missense_Mutation SNP A A C NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4196A>C p.Lys1399Thr p.K1399T ENST00000332191 26/27 NA NA NA NA NA NA ROBO2,missense_variant,p.Lys1338Thr,ENST00000461745,NM_001378192.1,NM_001378198.1,NM_001378199.1,NM_001378194.1,NM_001290039.2,NM_001378202.1,NM_001378197.1,NM_001378193.1,NM_002942.5;ROBO2,missense_variant,p.Lys1210Thr,ENST00000614793,NM_001290065.2;ROBO2,missense_variant,p.Lys1354Thr,ENST00000487694,NM_001378191.1,NM_001378195.1,NM_001378196.1,NM_001378190.1,NM_001378200.1,NM_001378201.1,NM_001378203.1,NM_001128929.3;ROBO2,missense_variant,p.Lys1399Thr,ENST00000332191,NM_001290040.2;ROBO2,missense_variant,p.Lys158Thr,ENST00000490534,;ROBO2,missense_variant,p.Lys170Thr,ENST00000475334,;ROBO2,3_prime_UTR_variant,,ENST00000473767,;ROBO2,non_coding_transcript_exon_variant,,ENST00000470802,; C ENSG00000185008 ENST00000332191 Transcript missense_variant 4252/5437 4196/4320 1399/1439 K/T aAg/aCg COSV59927164 1 NA 1 ROBO2 HGNC HGNC:10250 protein_coding YES ENSP00000327536 F8W703.67 UPI0001B794D2 NM_001290040.2 deleterious_low_confidence(0.01) probably_damaging(0.994) 26/27 MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA 1 NA NA NA NA MODERATE 1 SNV 5 NA 1 NA 1 . AAG . 2539.6 NA NA NA NA NA NA NA NA NA 77644782 OR5AC2 81050 . GRCh38 chr3 98087857 98087857 + Frame_Shift_Del DEL A A - rs11369970 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.692del p.Lys231SerfsTer27 p.K231Sfs*27 ENST00000358642 1/1 NA NA NA NA NA NA OR5AC2,frameshift_variant,p.Lys231SerfsTer27,ENST00000358642,NM_054106.1; - ENSG00000196578 ENST00000358642 Transcript frameshift_variant 685/930 685/930 229/309 K/X Aaa/aa rs11369970 1 NA 1 OR5AC2 HGNC HGNC:15431 protein_coding YES CCDS33796.1 ENSP00000351466 Q9NZP5.136 UPI0000441EFD NM_054106.1 1/1 PROSITE_profiles:PS50262,CDD:cd15409,PANTHER:PTHR26452:SF96,PANTHER:PTHR26452,Pfam:PF13853,Gene3D:1.20.1070.10,Superfamily:SSF81321 NA NA NA NA NA NA NA 0.001173 0.0009692 NA NA NA NA HIGH 1 deletion NA 7 NA NA . TGAA . 1833.6 2.838e-05 6.257e-05 5.93e-05 NA NA NA 3.588e-05 NA NA 98087856 FILIP1L 11259 . GRCh38 chr3 99929983 99929983 + Missense_Mutation SNP A A G novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.299T>C p.Leu100Pro p.L100P ENST00000354552 3/6 NA NA NA NA NA NA FILIP1L,missense_variant,p.Leu100Pro,ENST00000331335,NM_001042459.2;FILIP1L,missense_variant,p.Leu100Pro,ENST00000354552,NM_182909.3;FILIP1L,missense_variant,p.Leu100Pro,ENST00000398326,;CMSS1,intron_variant,,ENST00000421999,NM_032359.4;CMSS1,intron_variant,,ENST00000463526,;CMSS1,intron_variant,,ENST00000496116,;CMSS1,intron_variant,,ENST00000491299,; G ENSG00000168386 ENST00000354552 Transcript missense_variant 770/3970 299/3408 100/1135 L/P cTg/cCg 1 NA -1 FILIP1L HGNC HGNC:24589 protein_coding YES CCDS43117.1 ENSP00000346560 Q4L180.111 UPI00001B24B2 NM_182909.3 tolerated(0.31) probably_damaging(0.947) 3/6 PANTHER:PTHR23166,PANTHER:PTHR23166:SF4,Pfam:PF09727 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CAG . 1421.6 NA NA NA NA NA NA NA NA NA 99929983 LNP1 348801 . GRCh38 chr3 100451756 100451757 + In_Frame_Ins INS - - TCCTAGAAGGCATTCTCATGAGGACCAGGAATTCCGATGCCGATCGTCTGACCGTCT rs71132521 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.260_261insGGAATTCCGATGCCGATCGTCTGACCGTCTTCCTAGAAGGCATTCTCATGAGGACCA p.Ser93_His94insSerAspArgLeuProArgArgHisSerHisGluAspGlnGluPheArgCysArgSer p.S93_H94insSDRLPRRHSHEDQEFRCRS ENST00000489752 3/4 NA NA NA NA NA NA LNP1,inframe_insertion,p.Ser80_His81insSerAspArgLeuProArgArgHisSerHisGluAspGlnGluPheArgCysArgSer,ENST00000383693,NM_001085451.2;LNP1,inframe_insertion,p.Ser93_His94insSerAspArgLeuProArgArgHisSerHisGluAspGlnGluPheArgCysArgSer,ENST00000489752,;LNP1,3_prime_UTR_variant,,ENST00000466996,; TCCTAGAAGGCATTCTCATGAGGACCAGGAATTCCGATGCCGATCGTCTGACCGTCT ENSG00000206535 ENST00000489752 Transcript inframe_insertion 1095-1096/1813 233-234/576 78/191 H/HPRRHSHEDQEFRCRSSDRL cat/caTCCTAGAAGGCATTCTCATGAGGACCAGGAATTCCGATGCCGATCGTCTGACCGTCTt rs71132521 1 NA 1 LNP1 HGNC HGNC:28014 protein_coding YES ENSP00000417985 C9J587.54 UPI00004800BA 3/4 PANTHER:PTHR35667,Pfam:PF15419 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 insertion 5 27 NA NA . CAT . 3002.64 NA NA NA NA NA NA NA NA NA 100451756 IMPG2 50939 . GRCh38 chr3 101243736 101243736 + Silent SNP A A G rs866409532 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2595T>C p.Tyr865= p.Y865= ENST00000193391 13/19 NA NA NA NA NA NA IMPG2,synonymous_variant,p.Tyr865=,ENST00000193391,NM_016247.4;,regulatory_region_variant,,ENSR00000155744,; G ENSG00000081148 ENST00000193391 Transcript synonymous_variant 2798/8352 2595/3726 865/1241 Y taT/taC rs866409532 1 NA -1 IMPG2 HGNC HGNC:18362 protein_coding YES CCDS2940.1 ENSP00000193391 Q9BZV3.125 F1T0J3.65 UPI000013C605 NM_016247.4 13/19 PANTHER:PTHR12199:SF4,PANTHER:PTHR12199 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . CAT . 3543.6 NA NA NA NA NA NA NA NA NA 101243736 SENP7 57337 . GRCh38 chr3 101351640 101351640 + Frame_Shift_Del DEL T T - rs764980440 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1635del p.Lys545AsnfsTer11 p.K545Nfs*11 ENST00000394095 12/24 NA NA NA NA NA NA SENP7,frameshift_variant,p.Lys545AsnfsTer11,ENST00000394095,NM_020654.5;SENP7,frameshift_variant,p.Lys479AsnfsTer11,ENST00000314261,NM_001282801.2;SENP7,frameshift_variant,p.Lys480AsnfsTer11,ENST00000394094,NM_001077203.3;SENP7,frameshift_variant,p.Lys381AsnfsTer11,ENST00000394091,NM_001282803.2;SENP7,frameshift_variant,p.Lys512AsnfsTer11,ENST00000348610,NM_001282802.2;SENP7,upstream_gene_variant,,ENST00000366089,; - ENSG00000138468 ENST00000394095 Transcript frameshift_variant 1717/4973 1635/3153 545/1050 K/X aaA/aa rs764980440,COSV58616367 1 NA -1 SENP7 HGNC HGNC:30402 protein_coding YES CCDS2941.2 ENSP00000377655 Q9BQF6.148 UPI0000E56ED1 NM_020654.5 12/24 PANTHER:PTHR46896,PANTHER:PTHR46896:SF2 NA NA NA NA NA NA NA 0.00102 0.0008886 0,1 NA NA NA NA HIGH 1 deletion 1 NA 0,1 NA NA . TATT . 43.6 5.785e-05 NA 8.8e-05 NA 0.0001236 NA 2.834e-05 NA 0.0002574 101351639 NXPE3 91775 . GRCh38 chr3 101801876 101801876 + Silent SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.735G>A p.Glu245= p.E245= ENST00000273347 5/8 NA NA NA NA NA NA NXPE3,synonymous_variant,p.Glu245=,ENST00000273347,NM_001348992.2,NM_001348994.2,NM_001348993.2,NM_001348995.2,NM_145037.4,NM_001348997.2;NXPE3,synonymous_variant,p.Glu245=,ENST00000491511,NM_001348990.2,NM_001348991.2,NM_001348996.2,NM_001134456.2,NM_001348998.2;NXPE3,synonymous_variant,p.Glu245=,ENST00000477909,;NXPE3,5_prime_UTR_variant,,ENST00000616286,;NXPE3,downstream_gene_variant,,ENST00000474165,; A ENSG00000144815 ENST00000273347 Transcript synonymous_variant 1346/8568 735/1680 245/559 E gaG/gaA 1 NA 1 NXPE3 HGNC HGNC:28238 protein_coding YES CCDS2945.1 ENSP00000273347 Q969Y0.127 UPI000006D090 NM_001348992.2,NM_001348994.2,NM_001348993.2,NM_001348995.2,NM_145037.4,NM_001348997.2 5/8 Pfam:PF06312,PANTHER:PTHR16165,PANTHER:PTHR16165:SF9 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . AGC . 49.6 NA NA NA NA NA NA NA NA NA 101801876 NECTIN3 25945 . GRCh38 chr3 111133876 111133876 + Silent SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1311C>T p.Asp437= p.D437= ENST00000485303 6/6 NA NA NA NA NA NA NECTIN3,synonymous_variant,p.Asp437=,ENST00000485303,NM_015480.3;NECTIN3,3_prime_UTR_variant,,ENST00000319792,NM_001243286.2;NECTIN3,intron_variant,,ENST00000493615,NM_001243288.2; T ENSG00000177707 ENST00000485303 Transcript synonymous_variant 1513/5197 1311/1650 437/549 D gaC/gaT 1 NA 1 NECTIN3 HGNC HGNC:17664 protein_coding YES CCDS2957.1 ENSP00000418070 Q9NQS3.155 UPI000004A2B6 NM_015480.3 6/6 PANTHER:PTHR23277:SF12,PANTHER:PTHR23277 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . ACT . 2887.6 NA NA NA NA NA NA NA NA NA 111133876 NECTIN3 25945 . GRCh38 chr3 111145008 111145008 + Frame_Shift_Del DEL A A - novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1117del p.Arg373AspfsTer8 p.R373Dfs*8 ENST00000493615 6/9 NA NA NA NA NA NA NECTIN3,frameshift_variant,p.Arg373AspfsTer8,ENST00000493615,NM_001243288.2; - ENSG00000177707 ENST00000493615 Transcript frameshift_variant 1362/1876 1110/1464 370/487 R/X cgA/cg 1 NA 1 NECTIN3 HGNC HGNC:17664 protein_coding CCDS58843.1 ENSP00000420579 Q9NQS3.155 UPI0000E5A846 NM_001243288.2 6/9 PANTHER:PTHR23277:SF12,PANTHER:PTHR23277 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 2 7 NA NA . CGAA . 290.6 NA NA NA NA NA NA NA NA NA 111145007 PHLDB2 90102 . GRCh38 chr3 111939476 111939476 + Missense_Mutation SNP A A T novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2132A>T p.Asp711Val p.D711V ENST00000431670 7/18 NA NA NA NA NA NA PHLDB2,missense_variant,p.Asp711Val,ENST00000431670,NM_001134438.2;PHLDB2,missense_variant,p.Asp668Val,ENST00000412622,NM_145753.2;PHLDB2,missense_variant,p.Asp695Val,ENST00000393923,NM_001134437.2;PHLDB2,missense_variant,p.Asp711Val,ENST00000393925,NM_001134439.2;PHLDB2,missense_variant,p.Asp668Val,ENST00000481953,;PHLDB2,missense_variant,p.Asp297Val,ENST00000495180,;PHLDB2,missense_variant,p.Asp668Val,ENST00000498699,;PHLDB2,missense_variant,p.Asp498Val,ENST00000478733,;PHLDB2,upstream_gene_variant,,ENST00000491694,; T ENSG00000144824 ENST00000431670 Transcript missense_variant,splice_region_variant 2458/6042 2132/3762 711/1253 D/V gAt/gTt 1 NA 1 PHLDB2 HGNC HGNC:29573 protein_coding YES CCDS46886.1 ENSP00000405405 Q86SQ0.143 UPI0000457152 NM_001134438.2 deleterious(0) probably_damaging(0.954) 7/18 PANTHER:PTHR12156,PANTHER:PTHR12156:SF21 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . GAT . 1194.6 NA NA NA NA NA NA NA NA NA 111939476 USF3 205717 . GRCh38 chr3 113657264 113657269 + In_Frame_Del DEL TGCTGC TGCTGC - rs10606566 NA HCI-EC-23 NORMAL TGCTGC TGCTGC NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4413_4418del p.Gln1477_Gln1478del p.Q1477_Q1478del ENST00000316407 7/7 NA NA NA NA NA NA USF3,inframe_deletion,p.Gln1477_Gln1478del,ENST00000316407,NM_001009899.4;USF3,inframe_deletion,p.Gln1477_Gln1478del,ENST00000478658,;USF3,intron_variant,,ENST00000491165,;USF3,non_coding_transcript_exon_variant,,ENST00000496826,;,regulatory_region_variant,,ENSR00001070690,; - ENSG00000176542 ENST00000316407 Transcript inframe_deletion 4820-4825/13704 4413-4418/6738 1471-1473/2245 QQQ/Q caGCAGCAa/caa rs10606566 1 NA -1 USF3 HGNC HGNC:30494 protein_coding YES CCDS43133.1 ENSP00000320794 Q68DE3.121 UPI0004438052 NM_001009899.4 7/7 Coiled-coils_(Ncoils):Coil,PANTHER:PTHR46970,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 deletion 5 NA 1 NA 1 . GTTGCTGCT . 2251.6 NA NA NA NA NA NA NA NA NA 113657263 NR1I2 8856 . GRCh38 chr3 119807433 119807433 + Silent SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.300C>T p.Cys100= p.C100= ENST00000337940 2/9 NA NA NA NA NA NA NR1I2,synonymous_variant,p.Cys61=,ENST00000393716,NM_003889.3;NR1I2,synonymous_variant,p.Cys61=,ENST00000466380,NM_033013.2;NR1I2,synonymous_variant,p.Cys100=,ENST00000337940,NM_022002.2;AC069444.2,3_prime_UTR_variant,,ENST00000648112,;NR1I2,non_coding_transcript_exon_variant,,ENST00000474090,;NR1I2,upstream_gene_variant,,ENST00000493757,; T ENSG00000144852 ENST00000337940 Transcript synonymous_variant 348/2743 300/1422 100/473 C tgC/tgT 1 NA 1 NR1I2 HGNC HGNC:7968 protein_coding YES CCDS2995.1 ENSP00000336528 O75469.215 F1D8P9.75 UPI000006EC88 NM_022002.2 2/9 CDD:cd07162,Gene3D:3.30.50.10,Pfam:PF00105,SMART:SM00399,Superfamily:SSF57716,PROSITE_profiles:PS51030,PANTHER:PTHR24084:SF37,PANTHER:PTHR24084,PROSITE_patterns:PS00031,Prints:PR00047 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . GCA . 2663.6 NA NA NA NA NA NA NA NA NA 119807433 CASR 846 . GRCh38 chr3 122275825 122275825 + Missense_Mutation SNP T T C novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1391T>C p.Leu464Pro p.L464P ENST00000498619 5/7 NA NA NA NA NA NA CASR,missense_variant,p.Leu464Pro,ENST00000639785,NM_000388.4;CASR,missense_variant,p.Leu464Pro,ENST00000638421,;CASR,missense_variant,p.Leu464Pro,ENST00000498619,NM_001178065.2;CASR,intron_variant,,ENST00000490131,;,regulatory_region_variant,,ENSR00001071372,; C ENSG00000036828 ENST00000498619 Transcript missense_variant 1829/5009 1391/3267 464/1088 L/P cTa/cCa 1 NA 1 CASR HGNC HGNC:1514 protein_coding YES CCDS54632.1 ENSP00000420194 P41180.209 UPI000020A065 NM_001178065.2 deleterious(0) probably_damaging(0.999) 5/7 Gene3D:3.40.50.2300,Gene3D:3.40.50.2300,Pfam:PF01094,PANTHER:PTHR24061,PANTHER:PTHR24061:SF358,Superfamily:SSF53822,CDD:cd06364 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . CTA . 1688.6 NA NA NA NA NA NA NA NA NA 122275825 SEMA5B 54437 . GRCh38 chr3 122943526 122943526 + Missense_Mutation SNP G G A rs770977877 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.500C>T p.Pro167Leu p.P167L ENST00000451055 4/23 NA NA NA NA NA NA SEMA5B,missense_variant,p.Pro113Leu,ENST00000616742,NM_001256346.1;SEMA5B,missense_variant,p.Pro113Leu,ENST00000357599,NM_001031702.4;SEMA5B,missense_variant,p.Pro55Leu,ENST00000648990,;SEMA5B,missense_variant,p.Pro55Leu,ENST00000650207,;SEMA5B,missense_variant,p.Pro167Leu,ENST00000451055,NM_001256347.1;SEMA5B,missense_variant,p.Pro55Leu,ENST00000195173,NM_001256348.1;SEMA5B,missense_variant,p.Pro113Leu,ENST00000393583,;SEMA5B,missense_variant,p.Pro113Leu,ENST00000421053,;SEMA5B,non_coding_transcript_exon_variant,,ENST00000465147,;SEMA5B,missense_variant,p.Pro113Leu,ENST00000475244,;SEMA5B,non_coding_transcript_exon_variant,,ENST00000649167,;,regulatory_region_variant,,ENSR00000305850,;,regulatory_region_variant,,ENSR00001071447,; A ENSG00000082684 ENST00000451055 Transcript missense_variant 511/4579 500/3618 167/1205 P/L cCg/cTg rs770977877,COSV99533220 1 NA -1 SEMA5B HGNC HGNC:10737 protein_coding YES CCDS58848.1 ENSP00000389588 Q9P283.163 UPI0002065011 NM_001256347.1 deleterious(0.01) possibly_damaging(0.643) 4/23 PROSITE_profiles:PS51004,PANTHER:PTHR11036,PANTHER:PTHR11036:SF39,Gene3D:2.130.10.10,Superfamily:SSF101912 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 2 NA 0,1 NA NA . CGG . 1487.6 2.526e-05 NA 3.023e-05 NA NA NA 1.859e-05 NA 0.0001067 122943526 ZXDC 79364 . GRCh38 chr3 126459727 126459727 + Frame_Shift_Del DEL C C - novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2138del p.Gly713AlafsTer12 p.G713Afs*12 ENST00000389709 7/10 NA NA NA NA NA NA ZXDC,frameshift_variant,p.Gly713AlafsTer12,ENST00000389709,NM_025112.5;ZXDC,downstream_gene_variant,,ENST00000336332,NM_001040653.3;ZXDC,intron_variant,,ENST00000515545,; - ENSG00000070476 ENST00000389709 Transcript frameshift_variant 2164/3377 2138/2577 713/858 G/X gGc/gc 1 NA -1 ZXDC HGNC HGNC:28160 protein_coding YES CCDS43145.1 ENSP00000374359 Q2QGD7.140 UPI0000D7A440 NM_025112.5 7/10 PANTHER:PTHR46179,PANTHER:PTHR46179:SF5 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 NA NA NA . AGCC . 1503.6 NA NA NA NA NA NA NA NA NA 126459726 MCM2 4171 . GRCh38 chr3 127620792 127620792 + Missense_Mutation SNP T T C novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2360T>C p.Ile787Thr p.I787T ENST00000265056 14/16 NA NA NA NA NA NA MCM2,missense_variant,p.Ile787Thr,ENST00000265056,NM_004526.4;MCM2,missense_variant,p.Ile719Thr,ENST00000491422,;AC023593.1,non_coding_transcript_exon_variant,,ENST00000650122,;MCM2,non_coding_transcript_exon_variant,,ENST00000468414,;MCM2,3_prime_UTR_variant,,ENST00000474964,;MCM2,3_prime_UTR_variant,,ENST00000477668,;MCM2,downstream_gene_variant,,ENST00000473785,; C ENSG00000073111 ENST00000265056 Transcript missense_variant 2416/3434 2360/2715 787/904 I/T aTc/aCc 1 NA 1 MCM2 HGNC HGNC:6944 protein_coding YES CCDS3043.1 ENSP00000265056 P49736.219 UPI00001A3E4E NM_004526.4 tolerated(0.62) benign(0.065) 14/16 PDB-ENSP_mappings:6xtx.2,PDB-ENSP_mappings:6xty.2,CDD:cd17753,Pfam:PF17855,Gene3D:3.40.50.300,SMART:SM00350,Superfamily:SSF52540,PANTHER:PTHR11630:SF44,PANTHER:PTHR11630 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . ATC . 6201.6 NA NA NA NA NA NA NA NA NA 127620792 MGLL 11343 . GRCh38 chr3 127821740 127821740 + Missense_Mutation SNP C C T rs1017994751 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.109G>A p.Gly37Arg p.G37R ENST00000265052 2/8 NA NA NA NA NA NA MGLL,missense_variant,p.Gly27Arg,ENST00000434178,;MGLL,missense_variant,p.Gly37Arg,ENST00000265052,NM_007283.6;MGLL,missense_variant,p.Gly37Arg,ENST00000453507,NM_001256585.1;MGLL,missense_variant,p.Gly27Arg,ENST00000398104,NM_001003794.2;MGLL,missense_variant,p.Gly27Arg,ENST00000648300,;MGLL,missense_variant,p.Gly27Arg,ENST00000494830,;MGLL,non_coding_transcript_exon_variant,,ENST00000479967,;,regulatory_region_variant,,ENSR00000158019,; T ENSG00000074416 ENST00000265052 Transcript missense_variant 673/4642 109/942 37/313 G/R Gga/Aga rs1017994751 1 NA -1 MGLL HGNC HGNC:17038 protein_coding YES CCDS46902.1 ENSP00000265052 A0A0C4DFN3.38 UPI000004EC90 NM_007283.6 deleterious(0) probably_damaging(0.997) 2/8 Gene3D:3.40.50.1820,PANTHER:PTHR11614,PANTHER:PTHR11614:SF87,Superfamily:SSF53474 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CCG . 4061.6 NA NA NA NA NA NA NA NA NA 127821740 EFCC1 79825 . GRCh38 chr3 129001897 129001897 + Missense_Mutation SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.269C>T p.Ala90Val p.A90V ENST00000436022 1/8 NA NA NA NA NA NA EFCC1,missense_variant,p.Ala90Val,ENST00000436022,NM_001377500.1,NM_024768.3;CFAP92,intron_variant,,ENST00000510149,;,regulatory_region_variant,,ENSR00000700337,; T ENSG00000114654 ENST00000436022 Transcript missense_variant 269/2691 269/1797 90/598 A/V gCg/gTg 1 NA 1 EFCC1 HGNC HGNC:25692 protein_coding YES CCDS3054.2 ENSP00000414597 Q9HA90.113 UPI0001A2305A NM_001377500.1,NM_024768.3 tolerated(0.1) benign(0.062) 1/8 Pfam:PF15799,PANTHER:PTHR11595,PANTHER:PTHR11595:SF25,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . GCG . 2211.6 NA NA NA NA NA NA NA NA NA 129001897 TMCC1 23023 . GRCh38 chr3 129827805 129827805 + Missense_Mutation SNP G G A rs779016604 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.574C>T p.Arg192Trp p.R192W ENST00000393238 3/6 NA NA NA NA NA NA TMCC1,missense_variant,p.Arg78Trp,ENST00000648771,NM_001349269.2;TMCC1,missense_variant,p.Arg192Trp,ENST00000393238,NM_001349268.2,NM_001349265.2,NM_001017395.5,NM_001349266.2,NM_001349263.2,NM_001349264.2;TMCC1,missense_variant,p.Arg78Trp,ENST00000426664,NM_001349270.2,NM_001128224.2;TMCC1,missense_variant,p.Arg78Trp,ENST00000505616,;TMCC1,downstream_gene_variant,,ENST00000513411,;TMCC1,downstream_gene_variant,,ENST00000512902,;TMCC1,non_coding_transcript_exon_variant,,ENST00000505924,;TMCC1,downstream_gene_variant,,ENST00000508869,; A ENSG00000172765 ENST00000393238 Transcript missense_variant,splice_region_variant 915/5992 574/1962 192/653 R/W Cgg/Tgg rs779016604,COSV67872591 1 NA -1 TMCC1 HGNC HGNC:29116 protein_coding YES CCDS33855.1 ENSP00000376930 O94876.139 UPI0000197B80 NM_001349268.2,NM_001349265.2,NM_001017395.5,NM_001349266.2,NM_001349263.2,NM_001349264.2 deleterious(0.01) benign(0.249) 3/6 PANTHER:PTHR17613,PANTHER:PTHR17613:SF11 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 1 NA 0,1 NA NA . CGC . 1432.6 3.997e-06 NA NA NA NA NA NA NA 3.272e-05 129827805 TRH 7200 . GRCh38 chr3 129976800 129976800 + Frame_Shift_Del DEL G G - rs770451471 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.319del p.Ala107LeufsTer23 p.A107Lfs*23 ENST00000302649 3/3 NA NA NA NA NA NA TRH,frameshift_variant,p.Ala103LeufsTer23,ENST00000507066,;TRH,frameshift_variant,p.Ala107LeufsTer23,ENST00000302649,NM_007117.5; - ENSG00000170893 ENST00000302649 Transcript frameshift_variant 425/1560 313/729 105/242 G/X Ggg/gg rs770451471,COSV57014685 1 NA 1 TRH HGNC HGNC:12298 protein_coding YES CCDS3066.1 ENSP00000303452 P20396.168 UPI0000136F2B NM_007117.5 3/3 Low_complexity_(Seg):seg,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite,PANTHER:PTHR17530,PIRSF:PIRSF001795,Pfam:PF05438 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA HIGH 1 deletion 1 6 0,1 NA 1 . AAGG . 4679.6 7.96e-06 NA NA NA NA NA 8.805e-06 NA 3.266e-05 129976799 ASTE1 28990 . GRCh38 chr3 131025168 131025168 + Missense_Mutation SNP G G A NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.139C>T p.Leu47Phe p.L47F ENST00000514044 3/7 NA NA NA NA NA NA ASTE1,missense_variant,p.Leu47Phe,ENST00000264992,NM_014065.4;ASTE1,missense_variant,p.Leu47Phe,ENST00000514044,NM_001288950.1;ASTE1,missense_variant,p.Leu47Phe,ENST00000504725,;ASTE1,missense_variant,p.Leu47Phe,ENST00000505545,;NEK11,upstream_gene_variant,,ENST00000356918,;NEK11,upstream_gene_variant,,ENST00000383366,NM_001353038.2,NM_001353022.2,NM_001353023.2,NM_001353024.2,NM_001353033.2,NM_001353040.2,NM_001353041.2,NM_001321221.2,NM_024800.5,NM_001353027.2,NM_001353034.2,NM_001353043.2,NM_001353039.2,NM_001353046.2,NM_001321220.2,NM_001353025.2,NM_001353042.2,NM_001321224.2;ASTE1,upstream_gene_variant,,ENST00000505290,;NEK11,upstream_gene_variant,,ENST00000507910,NM_001321223.1;NEK11,upstream_gene_variant,,ENST00000508196,;ASTE1,downstream_gene_variant,,ENST00000509060,;NEK11,upstream_gene_variant,,ENST00000510688,NM_001353029.2,NM_001353028.2,NM_001353030.2,NM_001353036.2,NM_001353048.2,NM_001353026.2,NM_001146003.2,NM_001353031.2;NEK11,upstream_gene_variant,,ENST00000510769,NM_001353045.2,NM_001353032.2,NM_001353044.2,NM_001321222.2,NM_001353037.2;NEK11,upstream_gene_variant,,ENST00000511262,NM_145910.4;NEK11,upstream_gene_variant,,ENST00000507967,;NEK11,upstream_gene_variant,,ENST00000513550,;ASTE1,missense_variant,p.Leu47Phe,ENST00000507978,;ASTE1,missense_variant,p.Leu47Phe,ENST00000504964,;NEK11,upstream_gene_variant,,ENST00000506695,;NEK11,upstream_gene_variant,,ENST00000510474,;NEK11,upstream_gene_variant,,ENST00000514915,; A ENSG00000034533 ENST00000514044 Transcript missense_variant 346/2504 139/2115 47/704 L/F Ctc/Ttc COSV53910585 1 NA -1 ASTE1 HGNC HGNC:25021 protein_coding YES CCDS75007.1 ENSP00000426421 D6RG30.80 UPI0000D4C118 NM_001288950.1 tolerated(0.22) benign(0.344) 3/7 CDD:cd18676,PANTHER:PTHR15665,Pfam:PF00752,Gene3D:3.40.50.1010,Superfamily:SSF88723 NA NA NA NA NA NA NA NA NA 1 NA NA NA NA MODERATE 1 SNV 1 NA 1 NA NA . AGA . 2747.6 NA NA NA NA NA NA NA NA NA 131025168 ACAD11 84129 . GRCh38 chr3 132618665 132618665 + Frame_Shift_Del DEL A A - novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1383del p.Phe461LeufsTer46 p.F461Lfs*46 ENST00000264990 11/20 NA NA NA NA NA NA ACAD11,frameshift_variant,p.Phe461LeufsTer46,ENST00000264990,NM_032169.5;ACAD11,frameshift_variant,p.Phe461LeufsTer29,ENST00000481970,;ACAD11,non_coding_transcript_exon_variant,,ENST00000507705,;ACAD11,frameshift_variant,p.Phe19LeufsTer46,ENST00000510100,;NPHP3-ACAD11,3_prime_UTR_variant,,ENST00000471702,;ACAD11,non_coding_transcript_exon_variant,,ENST00000496418,;ACAD11,non_coding_transcript_exon_variant,,ENST00000469042,;ACAD11,non_coding_transcript_exon_variant,,ENST00000487024,;ACAD11,intron_variant,,ENST00000485198,;ACKR4,intron_variant,,ENST00000509820,; - ENSG00000240303 ENST00000264990 Transcript frameshift_variant 1441/3231 1383/2343 461/780 F/X ttT/tt 1 NA -1 ACAD11 HGNC HGNC:30211 protein_coding YES CCDS3074.1 ENSP00000264990 Q709F0.150 UPI0000223E4E NM_032169.5 11/20 PDB-ENSP_mappings:2wbi.A,PDB-ENSP_mappings:2wbi.B,CDD:cd01155,PANTHER:PTHR45741,Pfam:PF02771,Gene3D:1.10.540.10,Superfamily:SSF56645 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 NA NA NA . GCAA . 440.6 NA NA NA NA NA NA NA NA NA 132618664 PRR23A 729627 . GRCh38 chr3 139005822 139005822 + Silent SNP G G A NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.447C>T p.Ile149= p.I149= ENST00000383163 1/1 NA NA NA NA NA NA PRR23A,synonymous_variant,p.Ile149=,ENST00000383163,NM_001134659.1;MRPS22,5_prime_UTR_variant,,ENST00000495075,NM_020191.4; A ENSG00000206260 ENST00000383163 Transcript synonymous_variant 447/2307 447/801 149/266 I atC/atT COSV67214180 1 NA -1 PRR23A HGNC HGNC:37172 protein_coding YES CCDS46923.1 ENSP00000372649 A6NEV1.74 UPI00003671C1 NM_001134659.1 1/1 Low_complexity_(Seg):seg,PANTHER:PTHR31813:SF16,PANTHER:PTHR31813,Pfam:PF10630 NA NA NA NA NA NA NA NA NA 1 NA NA NA NA LOW NA SNV NA NA 1 NA NA . CGA . 10203.6 NA NA NA NA NA NA NA NA NA 139005822 COPB2 9276 . GRCh38 chr3 139371734 139371734 + Silent SNP G G A rs904778583 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1194C>T p.His398= p.H398= ENST00000333188 10/22 NA NA NA NA NA NA COPB2,synonymous_variant,p.His398=,ENST00000503326,;COPB2,synonymous_variant,p.His369=,ENST00000512242,;COPB2,synonymous_variant,p.His369=,ENST00000514508,;COPB2,synonymous_variant,p.His320=,ENST00000510181,;COPB2,synonymous_variant,p.His398=,ENST00000512309,;COPB2,synonymous_variant,p.His398=,ENST00000333188,NM_004766.3;COPB2,synonymous_variant,p.His369=,ENST00000507777,;COPB2,downstream_gene_variant,,ENST00000515006,;COPB2,3_prime_UTR_variant,,ENST00000677073,;COPB2,3_prime_UTR_variant,,ENST00000677601,;COPB2,3_prime_UTR_variant,,ENST00000677309,;COPB2,non_coding_transcript_exon_variant,,ENST00000677882,; A ENSG00000184432 ENST00000333188 Transcript synonymous_variant 1291/3275 1194/2721 398/906 H caC/caT rs904778583 1 NA -1 COPB2 HGNC HGNC:2232 protein_coding YES CCDS3108.1 ENSP00000329419 P35606.201 UPI0000161FB4 NM_004766.3 10/22 PANTHER:PTHR19876:SF2,PANTHER:PTHR19876,PIRSF:PIRSF005567,Pfam:PF04053,Superfamily:SSF50978 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . CGT . 670.6 3.981e-06 NA NA NA 5.439e-05 NA NA NA NA 139371734 SLC25A36 55186 . GRCh38 chr3 140956575 140956575 + Silent SNP A A C novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.90A>C p.Val30= p.V30= ENST00000324194 2/7 NA NA NA NA NA NA SLC25A36,synonymous_variant,p.Val30=,ENST00000324194,NM_001104647.3;SLC25A36,synonymous_variant,p.Val30=,ENST00000446041,NM_018155.3;SLC25A36,synonymous_variant,p.Val30=,ENST00000507429,;SLC25A36,synonymous_variant,p.Val30=,ENST00000453248,;SLC25A36,5_prime_UTR_variant,,ENST00000513887,;SLC25A36,non_coding_transcript_exon_variant,,ENST00000393015,;SLC25A36,synonymous_variant,p.Val30=,ENST00000648615,;SLC25A36,synonymous_variant,p.Val30=,ENST00000502594,;SLC25A36,synonymous_variant,p.Val30=,ENST00000631654,;SLC25A36,5_prime_UTR_variant,,ENST00000512023,;SLC25A36,non_coding_transcript_exon_variant,,ENST00000502756,;SLC25A36,non_coding_transcript_exon_variant,,ENST00000515813,;SLC25A36,upstream_gene_variant,,ENST00000512506,; C ENSG00000114120 ENST00000324194 Transcript synonymous_variant 309/5697 90/936 30/311 V gtA/gtC 1 NA 1 SLC25A36 HGNC HGNC:25554 protein_coding YES CCDS46927.1 ENSP00000320688 Q96CQ1.147 A0A384MEA9.8 UPI000006D558 NM_001104647.3 2/7 PROSITE_profiles:PS50920,PANTHER:PTHR45829:SF2,PANTHER:PTHR45829,Gene3D:1.50.40.10,Pfam:PF00153,Superfamily:SSF103506,Prints:PR00926 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . TAA . 47.6 NA NA NA NA NA NA NA NA NA 140956575 SLC25A36 55186 . GRCh38 chr3 140956584 140956584 + Silent SNP A A G rs992330928 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.99A>G p.Arg33= p.R33= ENST00000324194 2/7 NA NA NA NA NA NA SLC25A36,synonymous_variant,p.Arg33=,ENST00000324194,NM_001104647.3;SLC25A36,synonymous_variant,p.Arg33=,ENST00000446041,NM_018155.3;SLC25A36,synonymous_variant,p.Arg33=,ENST00000507429,;SLC25A36,synonymous_variant,p.Arg33=,ENST00000453248,;SLC25A36,5_prime_UTR_variant,,ENST00000513887,;SLC25A36,non_coding_transcript_exon_variant,,ENST00000393015,;SLC25A36,synonymous_variant,p.Arg33=,ENST00000648615,;SLC25A36,synonymous_variant,p.Arg33=,ENST00000502594,;SLC25A36,synonymous_variant,p.Arg33=,ENST00000631654,;SLC25A36,5_prime_UTR_variant,,ENST00000512023,;SLC25A36,non_coding_transcript_exon_variant,,ENST00000502756,;SLC25A36,non_coding_transcript_exon_variant,,ENST00000515813,;SLC25A36,upstream_gene_variant,,ENST00000512506,; G ENSG00000114120 ENST00000324194 Transcript synonymous_variant 318/5697 99/936 33/311 R cgA/cgG rs992330928 1 NA 1 SLC25A36 HGNC HGNC:25554 protein_coding YES CCDS46927.1 ENSP00000320688 Q96CQ1.147 A0A384MEA9.8 UPI000006D558 NM_001104647.3 2/7 PROSITE_profiles:PS50920,PANTHER:PTHR45829:SF2,PANTHER:PTHR45829,Gene3D:1.50.40.10,Pfam:PF00153,Superfamily:SSF103506,Prints:PR00926 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . GAC . 41.6 NA NA NA NA NA NA NA NA NA 140956584 TRPC1 7220 . GRCh38 chr3 142743556 142743556 + Silent SNP A A G novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.399A>G p.Arg133= p.R133= ENST00000476941 3/13 NA NA NA NA NA NA TRPC1,synonymous_variant,p.Arg133=,ENST00000476941,NM_001251845.2;TRPC1,intron_variant,,ENST00000273482,;TRPC1,intron_variant,,ENST00000612385,NM_003304.4;TRPC1,intron_variant,,ENST00000460401,; G ENSG00000144935 ENST00000476941 Transcript synonymous_variant 925/4561 399/2382 133/793 R cgA/cgG 1 NA 1 TRPC1 HGNC HGNC:12333 protein_coding YES CCDS58856.1 ENSP00000419313 P48995.181 UPI00001374A4 NM_001251845.2 3/13 PANTHER:PTHR10117,PANTHER:PTHR10117:SF56,TIGRFAM:TIGR00870,Gene3D:1.25.40.20,Superfamily:SSF48403 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . GAC . 58.6 NA NA NA NA NA NA NA NA NA 142743556 TRPC1 7220 . GRCh38 chr3 142743580 142743580 + Silent SNP T T C rs980481014 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.423T>C p.Thr141= p.T141= ENST00000476941 3/13 NA NA NA NA NA NA TRPC1,synonymous_variant,p.Thr141=,ENST00000476941,NM_001251845.2;TRPC1,intron_variant,,ENST00000273482,;TRPC1,intron_variant,,ENST00000612385,NM_003304.4;TRPC1,intron_variant,,ENST00000460401,; C ENSG00000144935 ENST00000476941 Transcript synonymous_variant 949/4561 423/2382 141/793 T acT/acC rs980481014 1 NA 1 TRPC1 HGNC HGNC:12333 protein_coding YES CCDS58856.1 ENSP00000419313 P48995.181 UPI00001374A4 NM_001251845.2 3/13 PANTHER:PTHR10117,PANTHER:PTHR10117:SF56,TIGRFAM:TIGR00870,Gene3D:1.25.40.20,Superfamily:SSF48403 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . CTA . 76.6 NA NA NA NA NA NA NA NA NA 142743580 TRPC1 7220 . GRCh38 chr3 142743583 142743583 + Silent SNP A A T novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.426A>T p.Ile142= p.I142= ENST00000476941 3/13 NA NA NA NA NA NA TRPC1,synonymous_variant,p.Ile142=,ENST00000476941,NM_001251845.2;TRPC1,intron_variant,,ENST00000273482,;TRPC1,intron_variant,,ENST00000612385,NM_003304.4;TRPC1,intron_variant,,ENST00000460401,; T ENSG00000144935 ENST00000476941 Transcript synonymous_variant 952/4561 426/2382 142/793 I atA/atT 1 NA 1 TRPC1 HGNC HGNC:12333 protein_coding YES CCDS58856.1 ENSP00000419313 P48995.181 UPI00001374A4 NM_001251845.2 3/13 PANTHER:PTHR10117,PANTHER:PTHR10117:SF56,TIGRFAM:TIGR00870,Gene3D:1.25.40.20,Superfamily:SSF48403 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . TAG . 79.6 NA NA NA NA NA NA NA NA NA 142743583 PLSCR2 57047 . GRCh38 chr3 146449232 146449232 + Missense_Mutation SNP C C T rs139488321 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.838G>A p.Val280Met p.V280M ENST00000497985 8/10 NA NA NA NA NA NA PLSCR2,missense_variant,p.Val280Met,ENST00000497985,NM_001199978.1;PLSCR2,missense_variant,p.Val207Met,ENST00000336685,NM_020359.2;PLSCR2,missense_variant,p.Val276Met,ENST00000613069,NM_001199979.1;PLSCR2,missense_variant,p.Val207Met,ENST00000610787,;PLSCR2,downstream_gene_variant,,ENST00000489015,;PLSCR2,intron_variant,,ENST00000463633,;,regulatory_region_variant,,ENSR00001073843,; T ENSG00000163746 ENST00000497985 Transcript missense_variant 1278/1441 838/894 280/297 V/M Gtg/Atg rs139488321 1 NA -1 PLSCR2 HGNC HGNC:16494 protein_coding YES CCDS56284.1 ENSP00000420132 Q9NRY7.153 UPI0001B79690 NM_001199978.1 deleterious(0) possibly_damaging(0.85) 8/10 PANTHER:PTHR23248:SF29,PANTHER:PTHR23248,Pfam:PF03803 2e-04 NA NA NA NA NA 0.001 NA 0.0005814 NA NA NA NA MODERATE 1 SNV 2 NA NA NA . ACG . 1210.6 0.0001919 NA 8.751e-05 NA NA NA 0.0003618 NA 0.0001323 146449232 ZIC1 7545 . GRCh38 chr3 147410336 147410336 + Missense_Mutation SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.224C>T p.Ala75Val p.A75V ENST00000282928 1/3 NA NA NA NA NA NA ZIC1,missense_variant,p.Ala75Val,ENST00000282928,NM_003412.4;ZIC1,intron_variant,,ENST00000488404,;ZIC4,upstream_gene_variant,,ENST00000383075,NM_032153.6;ZIC4,upstream_gene_variant,,ENST00000425731,NM_001168379.1;ZIC4,upstream_gene_variant,,ENST00000462748,;ZIC4,upstream_gene_variant,,ENST00000463250,;ZIC4,upstream_gene_variant,,ENST00000473123,;ZIC4,upstream_gene_variant,,ENST00000491672,NM_001243256.1;ZIC1,intron_variant,,ENST00000472523,;ZIC4,upstream_gene_variant,,ENST00000464144,;,regulatory_region_variant,,ENSR00000704063,; T ENSG00000152977 ENST00000282928 Transcript missense_variant 972/5260 224/1344 75/447 A/V gCg/gTg 1 NA 1 ZIC1 HGNC HGNC:12872 protein_coding YES CCDS3136.1 ENSP00000282928 Q15915.179 UPI000013DD09 NM_003412.4 tolerated(0.46) benign(0.079) 1/3 Low_complexity_(Seg):seg,PANTHER:PTHR19818:SF141,PANTHER:PTHR19818 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . GCG . 5753.6 NA NA NA NA NA NA NA NA NA 147410336 ARHGEF26 26084 . GRCh38 chr3 154226010 154226010 + Missense_Mutation SNP G G A rs1401233141 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2090G>A p.Ser697Asn p.S697N ENST00000356448 11/15 NA NA NA NA NA NA ARHGEF26,missense_variant,p.Ser697Asn,ENST00000356448,NM_001251962.1;ARHGEF26,missense_variant,p.Ser697Asn,ENST00000465093,NM_015595.4;ARHGEF26,missense_variant,p.Ser697Asn,ENST00000496710,NM_001251963.2;ARHGEF26,intron_variant,,ENST00000465817,;ARHGEF26,splice_region_variant,,ENST00000483068,; A ENSG00000114790 ENST00000356448 Transcript missense_variant,splice_region_variant 2374/5254 2090/2616 697/871 S/N aGt/aAt rs1401233141 1 NA 1 ARHGEF26 HGNC HGNC:24490 protein_coding YES CCDS46938.1 ENSP00000348828 Q96DR7.141 A0A140VJU4.23 UPI00001410D0 NM_001251962.1 deleterious(0.02) probably_damaging(0.963) 11/15 PROSITE_profiles:PS50003,CDD:cd01221,PANTHER:PTHR12845:SF4,PANTHER:PTHR12845,Gene3D:2.30.29.30,SMART:SM00233,Superfamily:SSF50729 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 2 NA NA NA . AGG . 2066.6 NA NA NA NA NA NA NA NA NA 154226010 IQCJ-SCHIP1 0 . GRCh38 chr3 159888826 159888826 + Missense_Mutation SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1429C>T p.His477Tyr p.H477Y ENST00000485419 9/11 NA NA NA NA NA NA IQCJ-SCHIP1,missense_variant,p.His401Tyr,ENST00000638749,NM_014575.3;IQCJ-SCHIP1,missense_variant,p.His477Tyr,ENST00000485419,NM_001197113.1;IQCJ-SCHIP1,missense_variant,p.His388Tyr,ENST00000412423,NM_001197107.1;IQCJ-SCHIP1,missense_variant,p.His361Tyr,ENST00000460298,;SCHIP1,missense_variant,p.His174Tyr,ENST00000482804,;IQCJ-SCHIP1,missense_variant,p.His450Tyr,ENST00000476809,NM_001197114.1;SCHIP1,missense_variant,p.His158Tyr,ENST00000445224,NM_001197109.1;IQCJ-SCHIP1,missense_variant,p.His169Tyr,ENST00000527095,NM_001197108.1;IQCJ-SCHIP1,intron_variant,,ENST00000638311,;SCHIP1,non_coding_transcript_exon_variant,,ENST00000482885,;SCHIP1,non_coding_transcript_exon_variant,,ENST00000475932,;SCHIP1,intron_variant,,ENST00000495954,;SCHIP1,downstream_gene_variant,,ENST00000461058,;SCHIP1,downstream_gene_variant,,ENST00000472483,; T ENSG00000283154 ENST00000485419 Transcript missense_variant 1598/2445 1429/1692 477/563 H/Y Cac/Tac 1 NA 1 IQCJ-SCHIP1 HGNC HGNC:38842 protein_coding YES CCDS56289.1 ENSP00000420182 B3KU38.67 UPI0000E5AA62 NM_001197113.1 deleterious(0.04) possibly_damaging(0.754) 9/11 PANTHER:PTHR13103,PANTHER:PTHR13103:SF2,Pfam:PF10148 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 2 NA NA NA . ACA . 2614.6 NA NA NA NA NA NA NA NA NA 159888826 TRIM59 286827 . GRCh38 chr3 160438353 160438353 + Silent SNP A A T novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.831T>A p.Ile277= p.I277= ENST00000309784 3/3 NA NA NA NA NA NA TRIM59,synonymous_variant,p.Ile277=,ENST00000543469,;TRIM59,synonymous_variant,p.Ile277=,ENST00000309784,NM_173084.3;SMC4,downstream_gene_variant,,ENST00000344722,NM_005496.3;SMC4,downstream_gene_variant,,ENST00000357388,NM_001002800.3;SMC4,downstream_gene_variant,,ENST00000462787,;TRIM59,downstream_gene_variant,,ENST00000468542,;SMC4,downstream_gene_variant,,ENST00000469762,NM_001288753.2;TRIM59,downstream_gene_variant,,ENST00000471155,;TRIM59,downstream_gene_variant,,ENST00000471396,;TRIM59,downstream_gene_variant,,ENST00000479460,;TRIM59,downstream_gene_variant,,ENST00000494486,;TRIM59,downstream_gene_variant,,ENST00000496222,;AC079594.1,synonymous_variant,p.Ile277=,ENST00000483754,;SMC4,downstream_gene_variant,,ENST00000462668,; T ENSG00000213186 ENST00000309784 Transcript synonymous_variant 974/3824 831/1212 277/403 I atT/atA 1 NA -1 TRIM59 HGNC HGNC:30834 protein_coding YES CCDS3190.1 ENSP00000311219 Q8IWR1.145 UPI0000074490 NM_173084.3 3/3 PANTHER:PTHR24098:SF14,PANTHER:PTHR24098 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . AAA . 1673.6 NA NA NA NA NA NA NA NA NA 160438353 OTOL1 131149 . GRCh38 chr3 161499208 161499208 + Silent SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.402G>A p.Gly134= p.G134= ENST00000327928 2/4 NA NA NA NA NA NA OTOL1,synonymous_variant,p.Gly134=,ENST00000327928,NM_001080440.1; A ENSG00000182447 ENST00000327928 Transcript synonymous_variant 402/1434 402/1434 134/477 G ggG/ggA 1 NA 1 OTOL1 HGNC HGNC:34071 protein_coding YES CCDS46948.1 ENSP00000330808 A6NHN0.97 UPI0000D61BA3 NM_001080440.1 2/4 Pfam:PF01391,PANTHER:PTHR24023:SF914,PANTHER:PTHR24023,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 2 NA NA NA . GGC . 1665.6 NA NA NA NA NA NA NA NA NA 161499208 WDR49 151790 . GRCh38 chr3 167560139 167560139 + Silent SNP G G A rs372277287 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1599C>T p.Asn533= p.N533= ENST00000647816 9/19 NA NA NA NA NA NA WDR49,synonymous_variant,p.Asn533=,ENST00000647816,NM_001348951.2,NM_001348952.2,NM_001366157.1;WDR49,synonymous_variant,p.Asn192=,ENST00000308378,NM_001366158.1;WDR49,synonymous_variant,p.Asn331=,ENST00000472600,;WDR49,synonymous_variant,p.Asn85=,ENST00000466760,;WDR49,intron_variant,,ENST00000479765,;WDR49,non_coding_transcript_exon_variant,,ENST00000476376,;WDR49,intron_variant,,ENST00000460448,;,regulatory_region_variant,,ENSR00000707734,; A ENSG00000174776 ENST00000647816 Transcript synonymous_variant 1783/3327 1599/3117 533/1038 N aaC/aaT rs372277287 1 NA -1 WDR49 HGNC HGNC:26587 protein_coding YES ENSP00000497120 A0A3B3IS43.8 UPI0000E08A40 NM_001348951.2,NM_001348952.2,NM_001366157.1 9/19 PROSITE_profiles:PS50294,PANTHER:PTHR44324:SF1,PANTHER:PTHR44324,Gene3D:2.130.10.10,Pfam:PF00400,SMART:SM00320,Superfamily:SSF50978 NA NA NA NA NA NA NA NA 0.0001163 NA NA NA NA LOW 1 SNV NA NA NA NA . CGT . 1866.6 3.579e-05 NA 2.891e-05 NA 0.0001088 NA 4.396e-05 NA 3.266e-05 167560139 PRKCI 5584 . GRCh38 chr3 170280340 170280340 + Frame_Shift_Del DEL A A - rs753143066 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.826del p.Thr276GlnfsTer7 p.T276Qfs*7 ENST00000295797 9/18 NA NA NA NA NA NA PRKCI,frameshift_variant,p.Thr276GlnfsTer7,ENST00000295797,NM_002740.6;PRKCI,non_coding_transcript_exon_variant,,ENST00000493761,;PRKCI,non_coding_transcript_exon_variant,,ENST00000488541,;PRKCI,upstream_gene_variant,,ENST00000482353,; - ENSG00000163558 ENST00000295797 Transcript frameshift_variant 1065/4887 819/1791 273/596 L/X ttA/tt rs753143066 1 NA 1 PRKCI HGNC HGNC:9404 protein_coding YES CCDS3212.2 ENSP00000295797 P41743.220 UPI000020A798 NM_002740.6 9/18 PDB-ENSP_mappings:1zrz.A,PDB-ENSP_mappings:3a8w.A,PDB-ENSP_mappings:3a8w.B,PDB-ENSP_mappings:3a8x.A,PDB-ENSP_mappings:3a8x.B,PDB-ENSP_mappings:3zh8.A,PDB-ENSP_mappings:3zh8.B,PDB-ENSP_mappings:3zh8.C,PDB-ENSP_mappings:5li1.A,PDB-ENSP_mappings:5li9.A,PDB-ENSP_mappings:5lih.A,PDB-ENSP_mappings:5lih.B,PDB-ENSP_mappings:6ilz.A,PDB-ENSP_mappings:6ilz.C,PDB-ENSP_mappings:6ilz.E,PDB-ENSP_mappings:6ilz.G,CDD:cd05618,Pfam:PF00069,PIRSF:PIRSF000554,Gene3D:3.30.200.20,SMART:SM00220,Superfamily:SSF56112,PROSITE_profiles:PS50011,PANTHER:PTHR24356,PANTHER:PTHR24356:SF214,PROSITE_patterns:PS00107 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 7 NA NA . TTAA . 2922.6 NA NA NA NA NA NA NA NA NA 170280339 KCNMB2 10242 . GRCh38 chr3 178825692 178825692 + Missense_Mutation SNP T T C novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.161T>C p.Met54Thr p.M54T ENST00000432997 3/5 NA NA NA NA NA NA KCNMB2,missense_variant,p.Met54Thr,ENST00000432997,NM_005832.5,NM_001278911.2;KCNMB2,missense_variant,p.Met54Thr,ENST00000452583,NM_181361.3;KCNMB2,missense_variant,p.Met54Thr,ENST00000358316,;KCNMB2,missense_variant,p.Met35Thr,ENST00000617329,;KCNMB2,missense_variant,p.Met54Thr,ENST00000420517,;AC117457.1,missense_variant,p.Met54Thr,ENST00000614557,;KCNMB2,missense_variant,p.Met54Thr,ENST00000455865,;KCNMB2,missense_variant,p.Met54Thr,ENST00000437510,;KCNMB2-AS1,intron_variant,,ENST00000425330,;KCNMB2-AS1,intron_variant,,ENST00000432385,;KCNMB2-AS1,intron_variant,,ENST00000437488,;KCNMB2-AS1,intron_variant,,ENST00000451742,;KCNMB2-AS1,intron_variant,,ENST00000668466,;KCNMB2,downstream_gene_variant,,ENST00000436247,;KCNMB2,downstream_gene_variant,,ENST00000470361,;KCNMB2,3_prime_UTR_variant,,ENST00000422927,; C ENSG00000197584 ENST00000432997 Transcript missense_variant 513/2552 161/708 54/235 M/T aTg/aCg 1 NA 1 KCNMB2 HGNC HGNC:6286 protein_coding YES CCDS3223.1 ENSP00000407592 Q9Y691.147 UPI0000073DCA NM_005832.5,NM_001278911.2 deleterious(0) probably_damaging(0.991) 3/5 Transmembrane_helices:TMhelix,PANTHER:PTHR10258,PANTHER:PTHR10258:SF5,Pfam:PF03185 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . ATG . 2031.6 NA NA NA NA NA NA NA NA NA 178825692 PIK3CA 5290 . GRCh38 chr3 179198940 179198940 + Missense_Mutation SNP G G A NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.115G>A p.Glu39Lys p.E39K ENST00000263967 2/21 NA NA NA NA NA NA PIK3CA,missense_variant,p.Glu39Lys,ENST00000263967,NM_006218.4;PIK3CA,missense_variant,p.Glu39Lys,ENST00000643187,;PIK3CA,missense_variant,p.Glu39Lys,ENST00000468036,;PIK3CA,downstream_gene_variant,,ENST00000477735,;PIK3CA,missense_variant,p.Glu39Lys,ENST00000675786,;PIK3CA,non_coding_transcript_exon_variant,,ENST00000675467,;PIK3CA,upstream_gene_variant,,ENST00000674534,; A ENSG00000121879 ENST00000263967 Transcript missense_variant 438/9259 115/3207 39/1068 E/K Gag/Aag COSV55904673 1 NA 1 PIK3CA HGNC HGNC:8975 protein_coding YES CCDS43171.1 ENSP00000263967 P42336.214 UPI000013D494 NM_006218.4 deleterious(0.01) benign(0.355) 2/21 PDB-ENSP_mappings:2rd0.A,PDB-ENSP_mappings:3hhm.A,PDB-ENSP_mappings:3hiz.A,PDB-ENSP_mappings:4jps.A,PDB-ENSP_mappings:4l1b.A,PDB-ENSP_mappings:4l23.A,PDB-ENSP_mappings:4l2y.A,PDB-ENSP_mappings:4ovu.A,PDB-ENSP_mappings:4ovv.A,PDB-ENSP_mappings:4waf.A,PDB-ENSP_mappings:4ykn.A,PDB-ENSP_mappings:4zop.A,PDB-ENSP_mappings:5dxh.A,PDB-ENSP_mappings:5dxh.D,PDB-ENSP_mappings:5fi4.A,PDB-ENSP_mappings:5itd.A,PDB-ENSP_mappings:5sw8.A,PDB-ENSP_mappings:5swg.A,PDB-ENSP_mappings:5swo.A,PDB-ENSP_mappings:5swp.A,PDB-ENSP_mappings:5swr.A,PDB-ENSP_mappings:5swt.A,PDB-ENSP_mappings:5sx8.A,PDB-ENSP_mappings:5sx9.A,PDB-ENSP_mappings:5sxa.A,PDB-ENSP_mappings:5sxb.A,PDB-ENSP_mappings:5sxc.A,PDB-ENSP_mappings:5sxd.A,PDB-ENSP_mappings:5sxe.A,PDB-ENSP_mappings:5sxf.A,PDB-ENSP_mappings:5sxi.A,PDB-ENSP_mappings:5sxj.A,PDB-ENSP_mappings:5sxk.A,PDB-ENSP_mappings:5uk8.A,PDB-ENSP_mappings:5ukj.A,PDB-ENSP_mappings:5ul1.A,PDB-ENSP_mappings:5xgh.A,PDB-ENSP_mappings:5xgi.A,PDB-ENSP_mappings:5xgj.A,PDB-ENSP_mappings:6nct.A,PROSITE_profiles:PS51544,PANTHER:PTHR10048,PANTHER:PTHR10048:SF103,Pfam:PF02192,Gene3D:3.10.20.90,SMART:SM00143 NA NA NA NA NA NA NA NA NA 1 NA NA NA NA MODERATE 1 SNV 2 NA 1 NA 1 . TGA . 3343.6 NA NA NA NA NA NA NA NA NA 179198940 PIK3CA 5290 . GRCh38 chr3 179199103 179199103 + Missense_Mutation SNP G G A rs1064793663 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.278G>A p.Arg93Gln p.R93Q ENST00000263967 2/21 NA NA NA NA NA NA PIK3CA,missense_variant,p.Arg93Gln,ENST00000263967,NM_006218.4;PIK3CA,missense_variant,p.Arg93Gln,ENST00000643187,;PIK3CA,missense_variant,p.Arg93Gln,ENST00000468036,;PIK3CA,downstream_gene_variant,,ENST00000477735,;PIK3CA,missense_variant,p.Arg93Gln,ENST00000675786,;PIK3CA,non_coding_transcript_exon_variant,,ENST00000675467,;PIK3CA,upstream_gene_variant,,ENST00000674534,; A ENSG00000121879 ENST00000263967 Transcript missense_variant 601/9259 278/3207 93/1068 R/Q cGg/cAg rs1064793663,COSV55877982,COSV55886419,COSV56022812 1 NA 1 PIK3CA HGNC HGNC:8975 protein_coding YES CCDS43171.1 ENSP00000263967 P42336.214 UPI000013D494 NM_006218.4 deleterious(0.01) possibly_damaging(0.867) 2/21 PDB-ENSP_mappings:2rd0.A,PDB-ENSP_mappings:3hhm.A,PDB-ENSP_mappings:3hiz.A,PDB-ENSP_mappings:4jps.A,PDB-ENSP_mappings:4l1b.A,PDB-ENSP_mappings:4l23.A,PDB-ENSP_mappings:4l2y.A,PDB-ENSP_mappings:4ovu.A,PDB-ENSP_mappings:4ovv.A,PDB-ENSP_mappings:4waf.A,PDB-ENSP_mappings:4ykn.A,PDB-ENSP_mappings:4zop.A,PDB-ENSP_mappings:5dxh.A,PDB-ENSP_mappings:5dxh.D,PDB-ENSP_mappings:5fi4.A,PDB-ENSP_mappings:5itd.A,PDB-ENSP_mappings:5sw8.A,PDB-ENSP_mappings:5swg.A,PDB-ENSP_mappings:5swo.A,PDB-ENSP_mappings:5swp.A,PDB-ENSP_mappings:5swr.A,PDB-ENSP_mappings:5swt.A,PDB-ENSP_mappings:5sx8.A,PDB-ENSP_mappings:5sx9.A,PDB-ENSP_mappings:5sxa.A,PDB-ENSP_mappings:5sxb.A,PDB-ENSP_mappings:5sxc.A,PDB-ENSP_mappings:5sxd.A,PDB-ENSP_mappings:5sxe.A,PDB-ENSP_mappings:5sxf.A,PDB-ENSP_mappings:5sxi.A,PDB-ENSP_mappings:5sxj.A,PDB-ENSP_mappings:5sxk.A,PDB-ENSP_mappings:5uk8.A,PDB-ENSP_mappings:5ukj.A,PDB-ENSP_mappings:5ul1.A,PDB-ENSP_mappings:5xgh.A,PDB-ENSP_mappings:5xgi.A,PDB-ENSP_mappings:5xgj.A,PDB-ENSP_mappings:6nct.A,PROSITE_profiles:PS51544,PANTHER:PTHR10048,PANTHER:PTHR10048:SF103,Pfam:PF02192,Gene3D:3.10.20.90,SMART:SM00143 NA NA NA NA NA NA NA NA NA pathogenic 0,1,1,1 NA NA NA NA MODERATE 1 SNV 2 NA 1,1,1,1 NA 1 . CGG . 2475.6 NA NA NA NA NA NA NA NA NA 179199103 PEX5L 51555 . GRCh38 chr3 179802002 179802002 + Silent SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1707C>T p.Leu569= p.L569= ENST00000467460 15/15 NA NA NA NA NA NA PEX5L,synonymous_variant,p.Leu569=,ENST00000467460,NM_016559.3,NM_001349389.2,NM_001349387.2,NM_001349386.2,NM_001349388.2;PEX5L,synonymous_variant,p.Leu461=,ENST00000392649,;PEX5L,synonymous_variant,p.Leu534=,ENST00000485199,NM_001256752.2,NM_001349393.2,NM_001349390.2,NM_001349397.2,NM_001349392.2;PEX5L,synonymous_variant,p.Leu567=,ENST00000263962,NM_001349396.2,NM_001256750.2;PEX5L,synonymous_variant,p.Leu526=,ENST00000476138,NM_001256754.2,NM_001349395.2;PEX5L,synonymous_variant,p.Leu377=,ENST00000468741,NM_001349404.2,NM_001349401.2,NM_001349399.2,NM_001349410.2,NM_001256756.2,NM_001349409.2,NM_001349406.2,NM_001349408.2;PEX5L,synonymous_variant,p.Leu510=,ENST00000472994,NM_001256753.2;PEX5L,synonymous_variant,p.Leu545=,ENST00000465751,NM_001349398.2,NM_001256751.2;PEX5L,synonymous_variant,p.Leu461=,ENST00000464614,NM_001256755.2,NM_001349394.2,NM_001349391.2;AC007687.1,upstream_gene_variant,,ENST00000602704,;PEX5L,non_coding_transcript_exon_variant,,ENST00000467440,;,regulatory_region_variant,,ENSR00000710242,; A ENSG00000114757 ENST00000467460 Transcript synonymous_variant 2045/9089 1707/1881 569/626 L ctC/ctT 1 NA -1 PEX5L HGNC HGNC:30024 protein_coding YES CCDS3236.1 ENSP00000419975 Q8IYB4.155 UPI0000049CE2 NM_016559.3,NM_001349389.2,NM_001349387.2,NM_001349386.2,NM_001349388.2 15/15 PROSITE_profiles:PS50005,PROSITE_profiles:PS50293,PANTHER:PTHR10130,PANTHER:PTHR10130:SF1,Gene3D:1.25.40.10,Pfam:PF13181,SMART:SM00028,Superfamily:SSF48452 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . TGA . 2174.6 NA NA NA NA NA NA NA NA NA 179802002 KLHL24 54800 . GRCh38 chr3 183651272 183651272 + Missense_Mutation SNP C C T rs1236279281 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.916C>T p.Arg306Cys p.R306C ENST00000454652 4/9 NA NA NA NA NA NA KLHL24,missense_variant,p.Arg306Cys,ENST00000454652,NM_001349418.1,NM_001349424.1,NM_001349417.1,NM_001349420.1,NM_001349414.1,NM_001349422.1;KLHL24,missense_variant,p.Arg306Cys,ENST00000242810,NM_001349428.1,NM_001349413.1,NM_017644.3,NM_001349415.1,NM_001349423.1,NM_001349419.1,NM_001349429.1,NM_001349421.1,NM_001349416.1,NM_001349425.1,NM_001349426.1;KLHL24,missense_variant,p.Arg306Cys,ENST00000476808,;KLHL24,downstream_gene_variant,,ENST00000427201,;KLHL24,downstream_gene_variant,,ENST00000437402,;KLHL24,downstream_gene_variant,,ENST00000454495,;KLHL24,downstream_gene_variant,,ENST00000468001,;KLHL24,downstream_gene_variant,,ENST00000468101,;KLHL24,downstream_gene_variant,,ENST00000473045,;KLHL24,downstream_gene_variant,,ENST00000482138,;KLHL24,downstream_gene_variant,,ENST00000493074,;KLHL24,intron_variant,,ENST00000475827,; T ENSG00000114796 ENST00000454652 Transcript missense_variant 1302/7380 916/1803 306/600 R/C Cgc/Tgc rs1236279281 1 NA 1 KLHL24 HGNC HGNC:25947 protein_coding YES CCDS3246.1 ENSP00000395012 Q6TFL4.137 UPI000020A86F NM_001349418.1,NM_001349424.1,NM_001349417.1,NM_001349420.1,NM_001349414.1,NM_001349422.1 deleterious(0) probably_damaging(1) 4/9 PANTHER:PTHR24412,PANTHER:PTHR24412:SF215,Gene3D:2.120.10.80,PIRSF:PIRSF037037 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . ACG . 1250.6 8.098e-06 NA NA NA NA NA 1.799e-05 NA NA 183651272 ABCC5 10057 . GRCh38 chr3 183965210 183965210 + Missense_Mutation SNP A A G novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2006T>C p.Ile669Thr p.I669T ENST00000334444 14/30 NA NA NA NA NA NA ABCC5,missense_variant,p.Ile669Thr,ENST00000334444,NM_005688.4,NM_001320032.2;ABCC5,missense_variant,p.Ile669Thr,ENST00000265586,;ABCC5,3_prime_UTR_variant,,ENST00000437205,;ABCC5,downstream_gene_variant,,ENST00000476402,; G ENSG00000114770 ENST00000334444 Transcript missense_variant 2116/5790 2006/4314 669/1437 I/T aTt/aCt 1 NA -1 ABCC5 HGNC HGNC:56 protein_coding YES CCDS43176.1 ENSP00000333926 O15440.184 UPI000004A33C NM_005688.4,NM_001320032.2 tolerated(0.89) benign(0.169) 14/30 PROSITE_profiles:PS50893,CDD:cd03250,PANTHER:PTHR24223,PANTHER:PTHR24223:SF355,Gene3D:3.40.50.300,Pfam:PF00005,SMART:SM00382,Superfamily:SSF52540 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . AAT . 4535.6 NA NA NA NA NA NA NA NA NA 183965210 DVL3 1857 . GRCh38 chr3 184164886 184164886 + Missense_Mutation SNP A A T novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.554A>T p.Glu185Val p.E185V ENST00000313143 5/15 NA NA NA NA NA NA DVL3,missense_variant,p.Glu185Val,ENST00000313143,NM_004423.4;DVL3,missense_variant,p.Glu185Val,ENST00000431765,;DVL3,non_coding_transcript_exon_variant,,ENST00000423300,;DVL3,non_coding_transcript_exon_variant,,ENST00000462665,;DVL3,non_coding_transcript_exon_variant,,ENST00000478247,;DVL3,non_coding_transcript_exon_variant,,ENST00000648288,;DVL3,non_coding_transcript_exon_variant,,ENST00000467873,;DVL3,downstream_gene_variant,,ENST00000435708,;DVL3,upstream_gene_variant,,ENST00000478639,;DVL3,downstream_gene_variant,,ENST00000649364,;DVL3,upstream_gene_variant,,ENST00000649847,;,regulatory_region_variant,,ENSR00001076732,; T ENSG00000161202 ENST00000313143 Transcript missense_variant 813/5269 554/2151 185/716 E/V gAg/gTg 1 NA 1 DVL3 HGNC HGNC:3087 protein_coding YES CCDS3253.1 ENSP00000316054 Q92997.197 UPI00001299A9 NM_004423.4 deleterious(0) possibly_damaging(0.683) 5/15 Low_complexity_(Seg):seg,MobiDB_lite:mobidb-lite,PANTHER:PTHR10878,PANTHER:PTHR10878:SF6,Pfam:PF02377 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . GAG . 4125.6 NA NA NA NA NA NA NA NA NA 184164886 AP2M1 1173 . GRCh38 chr3 184182787 184182787 + Silent SNP G G C NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1167G>C p.Ser389= p.S389= ENST00000411763 13/14 NA NA NA NA NA NA AP2M1,synonymous_variant,p.Ser362=,ENST00000382456,NM_001025205.1;AP2M1,synonymous_variant,p.Ser362=,ENST00000439647,;AP2M1,synonymous_variant,p.Ser364=,ENST00000292807,NM_004068.4;AP2M1,synonymous_variant,p.Ser389=,ENST00000411763,NM_001311198.1;AP2M1,synonymous_variant,p.Ser363=,ENST00000621863,;AP2M1,synonymous_variant,p.Ser54=,ENST00000442686,;ABCF3,upstream_gene_variant,,ENST00000292808,NM_001351298.1;AP2M1,downstream_gene_variant,,ENST00000427072,;ABCF3,upstream_gene_variant,,ENST00000429586,NM_001351300.1,NM_001351299.1,NM_018358.2;AP2M1,downstream_gene_variant,,ENST00000431779,;AP2M1,downstream_gene_variant,,ENST00000432591,;AP2M1,downstream_gene_variant,,ENST00000448139,;AP2M1,downstream_gene_variant,,ENST00000455925,;AP2M1,non_coding_transcript_exon_variant,,ENST00000461733,;AP2M1,downstream_gene_variant,,ENST00000460862,;ABCF3,upstream_gene_variant,,ENST00000421340,;ABCF3,upstream_gene_variant,,ENST00000463685,;AP2M1,downstream_gene_variant,,ENST00000463935,;ABCF3,upstream_gene_variant,,ENST00000466416,;AP2M1,downstream_gene_variant,,ENST00000466598,;AP2M1,downstream_gene_variant,,ENST00000468048,;AP2M1,downstream_gene_variant,,ENST00000472560,;ABCF3,upstream_gene_variant,,ENST00000473311,;AP2M1,downstream_gene_variant,,ENST00000476434,;ABCF3,upstream_gene_variant,,ENST00000478288,;AP2M1,downstream_gene_variant,,ENST00000480260,;ABCF3,upstream_gene_variant,,ENST00000481116,;AP2M1,downstream_gene_variant,,ENST00000484469,;ABCF3,upstream_gene_variant,,ENST00000485921,;AP2M1,downstream_gene_variant,,ENST00000487958,;AP2M1,downstream_gene_variant,,ENST00000490151,;ABCF3,upstream_gene_variant,,ENST00000498136,; C ENSG00000161203 ENST00000411763 Transcript synonymous_variant 1315/1577 1167/1383 389/460 S tcG/tcC COSV99490465 1 NA 1 AP2M1 HGNC HGNC:564 protein_coding YES CCDS82880.1 ENSP00000403362 E9PFW3.81 UPI000198CB69 NM_001311198.1 13/14 Superfamily:SSF49447,PIRSF:PIRSF005992,Gene3D:2.60.40.1170,Gene3D:2.60.40.1170,Pfam:PF00928,PANTHER:PTHR10529,PANTHER:PTHR10529:SF236,CDD:cd09251,PROSITE_profiles:PS51072 NA NA NA NA NA NA NA NA NA 1 NA NA NA NA LOW NA SNV 5 NA 1 NA 1 . CGC . 353.6 NA NA NA NA NA NA NA NA NA 184182787 ABCF3 55324 . GRCh38 chr3 184187892 184187892 + Missense_Mutation SNP G G T novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.478G>T p.Gly160Cys p.G160C ENST00000429586 6/21 NA NA NA NA NA NA ABCF3,missense_variant,p.Gly160Cys,ENST00000429586,NM_001351300.1,NM_001351299.1,NM_018358.2;ABCF3,missense_variant,p.Gly154Cys,ENST00000292808,NM_001351298.1;AP2M1,downstream_gene_variant,,ENST00000292807,NM_004068.4;AP2M1,downstream_gene_variant,,ENST00000382456,NM_001025205.1;AP2M1,downstream_gene_variant,,ENST00000411763,NM_001311198.1;AP2M1,downstream_gene_variant,,ENST00000439647,;AP2M1,downstream_gene_variant,,ENST00000442686,;AP2M1,downstream_gene_variant,,ENST00000621863,;AP2M1,downstream_gene_variant,,ENST00000461733,;ABCF3,3_prime_UTR_variant,,ENST00000421340,;ABCF3,non_coding_transcript_exon_variant,,ENST00000473311,;ABCF3,non_coding_transcript_exon_variant,,ENST00000498136,;ABCF3,non_coding_transcript_exon_variant,,ENST00000478288,;ABCF3,downstream_gene_variant,,ENST00000463685,;ABCF3,downstream_gene_variant,,ENST00000466416,;ABCF3,upstream_gene_variant,,ENST00000466742,;ABCF3,upstream_gene_variant,,ENST00000468892,;ABCF3,upstream_gene_variant,,ENST00000471226,;ABCF3,upstream_gene_variant,,ENST00000472608,;ABCF3,upstream_gene_variant,,ENST00000475728,;ABCF3,upstream_gene_variant,,ENST00000480562,;ABCF3,downstream_gene_variant,,ENST00000481116,;ABCF3,downstream_gene_variant,,ENST00000485921,;ABCF3,upstream_gene_variant,,ENST00000489719,; T ENSG00000161204 ENST00000429586 Transcript missense_variant 663/2624 478/2130 160/709 G/C Ggc/Tgc 1 NA 1 ABCF3 HGNC HGNC:72 protein_coding YES CCDS3254.1 ENSP00000411471 Q9NUQ8.156 A0A0S2Z5L1.35 UPI000007270D NM_001351300.1,NM_001351299.1,NM_018358.2 tolerated(0.18) benign(0.251) 6/21 MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite,PANTHER:PTHR19211:SF45,PANTHER:PTHR19211,Gene3D:3.40.50.300 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . AGG . 4228.6 NA NA NA NA NA NA NA NA NA 184187892 CHRD 8646 . GRCh38 chr3 184381561 184381562 + In_Frame_Ins INS - - GCA rs745620244 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.450_452dup p.Ser151dup p.S151dup ENST00000204604 4/23 NA NA NA NA NA NA CHRD,inframe_insertion,p.Ser151dup,ENST00000204604,NM_003741.3,NM_001304473.2,NM_001304474.2;CHRD,inframe_insertion,p.Ser151dup,ENST00000450923,NM_001304472.1;CHRD,inframe_insertion,p.Ser151dup,ENST00000348986,;THPO,5_prime_UTR_variant,,ENST00000645603,;THPO,upstream_gene_variant,,ENST00000445696,NM_001290022.1,NM_001177597.2;THPO,upstream_gene_variant,,ENST00000647395,NM_001290028.1,NM_001289998.1,NM_000460.4;THPO,upstream_gene_variant,,ENST00000649095,NM_001290003.1;CHRD,non_coding_transcript_exon_variant,,ENST00000482805,;CHRD,inframe_insertion,p.Ser151dup,ENST00000420973,;CHRD,3_prime_UTR_variant,,ENST00000448472,;CHRD,3_prime_UTR_variant,,ENST00000356534,;CHRD,non_coding_transcript_exon_variant,,ENST00000460627,;CHRD,non_coding_transcript_exon_variant,,ENST00000470150,;CHRD,non_coding_transcript_exon_variant,,ENST00000461684,;CHRD,non_coding_transcript_exon_variant,,ENST00000485883,;CHRD,non_coding_transcript_exon_variant,,ENST00000482014,;CHRD,non_coding_transcript_exon_variant,,ENST00000486066,;CHRD,non_coding_transcript_exon_variant,,ENST00000459711,;CHRD,upstream_gene_variant,,ENST00000461120,;CHRD,upstream_gene_variant,,ENST00000464833,;CHRD,downstream_gene_variant,,ENST00000496527,;,regulatory_region_variant,,ENSR00000162921,; GCA ENSG00000090539 ENST00000204604 Transcript inframe_insertion 694-695/3521 448-449/2868 150/955 R/RS cgc/cGCAgc rs745620244 1 NA 1 CHRD HGNC HGNC:1949 protein_coding YES CCDS3266.1 ENSP00000204604 Q9H2X0.152 UPI000013C64D NM_003741.3,NM_001304473.2,NM_001304474.2 4/23 MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite,PANTHER:PTHR46526,PIRSF:PIRSF002496 NA NA NA NA NA NA NA NA 0.0004883 NA NA NA NA MODERATE 1 insertion 1 4 NA NA . TCG . 9800.64 6.295e-05 7.01e-05 NA NA NA NA 0.0001224 0.0001718 NA 184381561 AHSG 197 . GRCh38 chr3 186620761 186620761 + Missense_Mutation SNP C C T rs548302489 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.938C>T p.Ala313Val p.A313V ENST00000273784 7/7 NA NA NA NA NA NA AHSG,missense_variant,p.Ala312Val,ENST00000411641,NM_001622.4,NM_001354573.2,NM_001354572.2;AHSG,missense_variant,p.Ala313Val,ENST00000273784,NM_001354571.2;AC068631.1,intron_variant,,ENST00000625386,;AC068631.1,intron_variant,,ENST00000628505,;AC068631.1,intron_variant,,ENST00000630178,;AHSG,downstream_gene_variant,,ENST00000478441,; T ENSG00000145192 ENST00000273784 Transcript missense_variant 1014/1553 938/1107 313/368 A/V gCg/gTg rs548302489,COSV56609041 1 NA 1 AHSG HGNC HGNC:349 protein_coding YES CCDS87176.1 ENSP00000273784 C9JV77.72 UPI0000D4CD42 NM_001354571.2 tolerated(0.14) benign(0.005) 7/7 PANTHER:PTHR13814,PANTHER:PTHR13814:SF6 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 3 NA 0,1 NA 1 . GCG . 4700.6 3.581e-05 NA NA NA 0.0001088 NA 4.4e-05 0.000163 3.266e-05 186620761 KNG1 3827 . GRCh38 chr3 186732656 186732657 + Frame_Shift_Ins INS - - A novel NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.918dup p.Ala307SerfsTer14 p.A307Sfs*14 ENST00000644859 7/10 NA NA NA NA NA NA KNG1,frameshift_variant,p.Ala307SerfsTer14,ENST00000644859,NM_001102416.3;KNG1,frameshift_variant,p.Ala307SerfsTer14,ENST00000287611,NM_000893.4;KNG1,frameshift_variant,p.Ala271SerfsTer14,ENST00000447445,NM_001166451.2;AC068631.1,intron_variant,,ENST00000354642,;AC068631.1,intron_variant,,ENST00000599314,;AC068631.1,intron_variant,,ENST00000625303,;AC068631.1,intron_variant,,ENST00000625386,;AC068631.1,intron_variant,,ENST00000625710,;AC068631.1,intron_variant,,ENST00000625741,;AC068631.1,intron_variant,,ENST00000625839,;AC068631.1,intron_variant,,ENST00000626151,;AC068631.1,intron_variant,,ENST00000626633,;AC068631.1,intron_variant,,ENST00000626845,;AC068631.1,intron_variant,,ENST00000627015,;AC068631.1,intron_variant,,ENST00000627268,;AC068631.1,intron_variant,,ENST00000627469,;AC068631.1,intron_variant,,ENST00000627551,;AC068631.1,intron_variant,,ENST00000627830,;AC068631.1,intron_variant,,ENST00000627919,;AC068631.1,intron_variant,,ENST00000628190,;AC068631.1,intron_variant,,ENST00000628253,;AC068631.1,intron_variant,,ENST00000628505,;AC068631.1,intron_variant,,ENST00000628601,;AC068631.1,intron_variant,,ENST00000628728,;AC068631.1,intron_variant,,ENST00000628858,;AC068631.1,intron_variant,,ENST00000629106,;AC068631.1,intron_variant,,ENST00000629451,;AC068631.1,intron_variant,,ENST00000630178,;AC068631.1,intron_variant,,ENST00000630331,;AC068631.1,intron_variant,,ENST00000630864,;AC068631.1,downstream_gene_variant,,ENST00000626306,;AC068631.1,downstream_gene_variant,,ENST00000628020,;AC068631.1,downstream_gene_variant,,ENST00000628831,;AC068631.1,downstream_gene_variant,,ENST00000629126,;AC068631.1,downstream_gene_variant,,ENST00000629734,; A ENSG00000113889 ENST00000644859 Transcript frameshift_variant 1096-1097/4198 912-913/1935 304-305/644 -/X -/A 1 NA 1 KNG1 HGNC HGNC:6383 protein_coding YES CCDS43183.1 ENSP00000493985 P01042.225 UPI000013D5AC NM_001102416.3 7/10 CDD:cd00042,Pfam:PF00031,Gene3D:3.10.450.10,SMART:SM00043,Superfamily:SSF54403,PROSITE_profiles:PS51647,PANTHER:PTHR13814,PANTHER:PTHR13814:SF12 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH NA insertion NA 6 NA 1 . TGA . 1249.64 NA NA NA NA NA NA NA NA NA 186732656 ATP13A4 84239 . GRCh38 chr3 193467438 193467438 + Missense_Mutation SNP G G A rs200876454 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.992C>T p.Ser331Phe p.S331F ENST00000342695 10/30 NA NA NA NA NA NA ATP13A4,missense_variant,p.Ser331Phe,ENST00000342695,NM_032279.4;ATP13A4,missense_variant,p.Ser331Phe,ENST00000392443,;ATP13A4,missense_variant,p.Ser331Phe,ENST00000295548,;ATP13A4,3_prime_UTR_variant,,ENST00000450950,;ATP13A4,non_coding_transcript_exon_variant,,ENST00000490925,;ATP13A4,upstream_gene_variant,,ENST00000428352,; A ENSG00000127249 ENST00000342695 Transcript missense_variant 1088/7372 992/3591 331/1196 S/F tCt/tTt rs200876454 1 NA -1 ATP13A4 HGNC HGNC:25422 protein_coding YES CCDS3304.2 ENSP00000339182 Q4VNC1.124 UPI0000520D50 NM_032279.4 tolerated(0.1) benign(0.005) 10/30 Gene3D:1.20.1110.10,Gene3D:2.70.150.10,Pfam:PF00122,PANTHER:PTHR45630,PANTHER:PTHR45630:SF1,Superfamily:SSF81653,Superfamily:SSF81665,TIGRFAM:TIGR01494,TIGRFAM:TIGR01657,CDD:cd07542 2e-04 8e-04 NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . AGA . 2273.6 3.978e-06 6.152e-05 NA NA NA NA NA NA NA 193467438 ATP13A3 79572 . GRCh38 chr3 194427129 194427129 + Missense_Mutation SNP C C A rs867958861 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3071G>T p.Gly1024Val p.G1024V ENST00000645319 29/34 NA NA NA NA NA NA ATP13A3,missense_variant,p.Gly1024Val,ENST00000439040,;ATP13A3,missense_variant,p.Gly1024Val,ENST00000645319,NM_001367549.1;ATP13A3,missense_variant,p.Gly1024Val,ENST00000645538,NM_024524.3;ATP13A3,missense_variant,p.Gly997Val,ENST00000642744,NM_001374836.1;ATP13A3,missense_variant,p.Gly202Val,ENST00000429136,;ATP13A3,non_coding_transcript_exon_variant,,ENST00000645621,;ATP13A3,downstream_gene_variant,,ENST00000484023,; A ENSG00000133657 ENST00000645319 Transcript missense_variant 3596/7538 3071/3771 1024/1256 G/V gGt/gTt rs867958861,COSV55465776 1 NA -1 ATP13A3 HGNC HGNC:24113 protein_coding YES ENSP00000494937 A0A2R8Y635.12 UPI00006C0765 NM_001367549.1 deleterious(0.01) benign(0.025) 29/34 PANTHER:PTHR45630,PANTHER:PTHR45630:SF8,Superfamily:SSF81665,TIGRFAM:TIGR01657,Transmembrane_helices:TMhelix,CDD:cd07542 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV NA NA 0,1 NA NA . ACC . 1122.34 NA NA NA NA NA NA NA NA NA 194427129 MUC4 4585 . GRCh38 chr3 195754340 195754340 + Silent SNP G G A rs773361472 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.15201C>T p.Phe5067= p.F5067= ENST00000463781 19/25 NA NA NA NA NA NA MUC4,synonymous_variant,p.Phe5067=,ENST00000463781,NM_018406.7;MUC4,synonymous_variant,p.Phe5015=,ENST00000475231,;MUC4,synonymous_variant,p.Phe831=,ENST00000346145,NM_004532.6;MUC4,synonymous_variant,p.Phe780=,ENST00000349607,NM_138297.5;MUC4,3_prime_UTR_variant,,ENST00000466475,;MUC4,3_prime_UTR_variant,,ENST00000477756,;MUC4,3_prime_UTR_variant,,ENST00000477086,;MUC4,3_prime_UTR_variant,,ENST00000480843,;MUC4,3_prime_UTR_variant,,ENST00000462323,;MUC4,3_prime_UTR_variant,,ENST00000470451,;MUC4,3_prime_UTR_variant,,ENST00000308466,;MUC4,3_prime_UTR_variant,,ENST00000339251,;MUC4,3_prime_UTR_variant,,ENST00000415455,;MUC4,intron_variant,,ENST00000392407,;MUC4,intron_variant,,ENST00000448861,;MUC4,intron_variant,,ENST00000478156,;MUC4,intron_variant,,ENST00000479406,;MUC4,upstream_gene_variant,,ENST00000464234,;MUC4,upstream_gene_variant,,ENST00000467235,;MUC4,upstream_gene_variant,,ENST00000469992,; A ENSG00000145113 ENST00000463781 Transcript synonymous_variant 15313/16756 15201/16239 5067/5412 F ttC/ttT rs773361472,COSV57805671 1 NA -1 MUC4 HGNC HGNC:7514 protein_coding YES CCDS54700.1 ENSP00000417498 E9PDY6.64 UPI0001B3CB30 NM_018406.7 19/25 PANTHER:PTHR13802,PANTHER:PTHR13802:SF53 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA LOW 1 SNV 5 NA 0,1 NA 1 . CGA . 3034.6 1.208e-05 6.23e-05 NA NA 5.466e-05 NA 8.95e-06 NA NA 195754340 MUC4 4585 . GRCh38 chr3 195779481 195779482 + In_Frame_Ins INS - - AGAGGGGTGGCCTGACCTGTGGATGATGAGGAAGGGCTGGTG novel NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.12098_12099insCACCAGCCCTTCCTCATCATCCACAGGTCAGGCCACCCCTCT p.Val4033_Pro4034insThrSerProSerSerSerSerThrGlyGlnAlaThrProLeu p.V4033_P4034insTSPSSSSTGQATPL ENST00000463781 2/25 NA NA NA NA NA NA MUC4,inframe_insertion,p.Val4033_Pro4034insThrSerProSerSerSerSerThrGlyGlnAlaThrProLeu,ENST00000463781,NM_018406.7;MUC4,inframe_insertion,p.Val4033_Pro4034insThrSerProSerSerSerSerThrGlyGlnAlaThrProLeu,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.6;MUC4,intron_variant,,ENST00000349607,NM_138297.5;MUC4,inframe_insertion,p.Val4033_Pro4034insThrSerProSerSerSerSerThrGlyGlnAlaThrProLeu,ENST00000478156,;MUC4,inframe_insertion,p.Val4033_Pro4034insThrSerProSerSerSerSerThrGlyGlnAlaThrProLeu,ENST00000466475,;MUC4,inframe_insertion,p.Val4033_Pro4034insThrSerProSerSerSerSerThrGlyGlnAlaThrProLeu,ENST00000477756,;MUC4,inframe_insertion,p.Val4033_Pro4034insThrSerProSerSerSerSerThrGlyGlnAlaThrProLeu,ENST00000477086,;MUC4,inframe_insertion,p.Val4033_Pro4034insThrSerProSerSerSerSerThrGlyGlnAlaThrProLeu,ENST00000480843,;MUC4,inframe_insertion,p.Val4033_Pro4034insThrSerProSerSerSerSerThrGlyGlnAlaThrProLeu,ENST00000462323,;MUC4,inframe_insertion,p.Val4033_Pro4034insThrSerProSerSerSerSerThrGlyGlnAlaThrProLeu,ENST00000470451,;MUC4,inframe_insertion,p.Val4033_Pro4034insThrSerProSerSerSerSerThrGlyGlnAlaThrProLeu,ENST00000479406,;MUC4,upstream_gene_variant,,ENST00000308466,;MUC4,upstream_gene_variant,,ENST00000339251,;MUC4,upstream_gene_variant,,ENST00000392407,;MUC4,upstream_gene_variant,,ENST00000415455,;MUC4,upstream_gene_variant,,ENST00000448861,;,regulatory_region_variant,,ENSR00001078001,; AGAGGGGTGGCCTGACCTGTGGATGATGAGGAAGGGCTGGTG ENSG00000145113 ENST00000463781 Transcript inframe_insertion 12210-12211/16756 12098-12099/16239 4033/5412 V/VTSPSSSSTGQATPL gtt/gtCACCAGCCCTTCCTCATCATCCACAGGTCAGGCCACCCCTCTt 1 NA -1 MUC4 HGNC HGNC:7514 protein_coding YES CCDS54700.1 ENSP00000417498 E9PDY6.64 UPI0001B3CB30 NM_018406.7 2/25 MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 insertion 5 NA NA 1 . GAA . 6265.64 NA NA NA NA NA NA NA NA NA 195779481 MUC4 4585 . GRCh38 chr3 195779486 195779487 + In_Frame_Ins INS - - AAGAGA novel NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.12093_12094insTCTCTT p.Thr4031_Pro4032insSerLeu p.T4031_P4032insSL ENST00000463781 2/25 NA NA NA NA NA NA MUC4,inframe_insertion,p.Thr4031_Pro4032insSerLeu,ENST00000463781,NM_018406.7;MUC4,inframe_insertion,p.Thr4031_Pro4032insSerLeu,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.6;MUC4,intron_variant,,ENST00000349607,NM_138297.5;MUC4,inframe_insertion,p.Thr4031_Pro4032insSerLeu,ENST00000478156,;MUC4,inframe_insertion,p.Thr4031_Pro4032insSerLeu,ENST00000466475,;MUC4,inframe_insertion,p.Thr4031_Pro4032insSerLeu,ENST00000477756,;MUC4,inframe_insertion,p.Thr4031_Pro4032insSerLeu,ENST00000477086,;MUC4,inframe_insertion,p.Thr4031_Pro4032insSerLeu,ENST00000480843,;MUC4,inframe_insertion,p.Thr4031_Pro4032insSerLeu,ENST00000462323,;MUC4,inframe_insertion,p.Thr4031_Pro4032insSerLeu,ENST00000470451,;MUC4,inframe_insertion,p.Thr4031_Pro4032insSerLeu,ENST00000479406,;MUC4,upstream_gene_variant,,ENST00000308466,;MUC4,upstream_gene_variant,,ENST00000339251,;MUC4,upstream_gene_variant,,ENST00000392407,;MUC4,upstream_gene_variant,,ENST00000415455,;MUC4,upstream_gene_variant,,ENST00000448861,;,regulatory_region_variant,,ENSR00001078001,; AAGAGA ENSG00000145113 ENST00000463781 Transcript inframe_insertion 12205-12206/16756 12093-12094/16239 4031-4032/5412 -/SL -/TCTCTT 1 NA -1 MUC4 HGNC HGNC:7514 protein_coding YES CCDS54700.1 ENSP00000417498 E9PDY6.64 UPI0001B3CB30 NM_018406.7 2/25 MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 insertion 5 NA NA 1 . GGG . 13496.64 NA NA NA NA NA NA NA NA NA 195779486 MUC4 4585 . GRCh38 chr3 195780221 195780221 + Missense_Mutation SNP T T A rs769637445 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.11359A>T p.Thr3787Ser p.T3787S ENST00000463781 2/25 NA NA NA NA NA NA MUC4,missense_variant,p.Thr3787Ser,ENST00000463781,NM_018406.7;MUC4,missense_variant,p.Thr3787Ser,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.6;MUC4,intron_variant,,ENST00000349607,NM_138297.5;MUC4,missense_variant,p.Thr3787Ser,ENST00000478156,;MUC4,missense_variant,p.Thr3787Ser,ENST00000466475,;MUC4,missense_variant,p.Thr3787Ser,ENST00000477756,;MUC4,missense_variant,p.Thr3787Ser,ENST00000477086,;MUC4,missense_variant,p.Thr3787Ser,ENST00000480843,;MUC4,missense_variant,p.Thr3787Ser,ENST00000462323,;MUC4,missense_variant,p.Thr3787Ser,ENST00000470451,;MUC4,missense_variant,p.Thr3787Ser,ENST00000479406,;MUC4,upstream_gene_variant,,ENST00000308466,;MUC4,upstream_gene_variant,,ENST00000339251,;MUC4,upstream_gene_variant,,ENST00000392407,;MUC4,upstream_gene_variant,,ENST00000415455,;MUC4,upstream_gene_variant,,ENST00000448861,;,regulatory_region_variant,,ENSR00001078001,; A ENSG00000145113 ENST00000463781 Transcript missense_variant 11471/16756 11359/16239 3787/5412 T/S Aca/Tca rs769637445 1 NA -1 MUC4 HGNC HGNC:7514 protein_coding YES CCDS54700.1 ENSP00000417498 E9PDY6.64 UPI0001B3CB30 NM_018406.7 tolerated_low_confidence(0.07) probably_damaging(0.933) 2/25 MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA 1 . GTG . 1369.6 0.0001366 0.0002721 0.0002467 NA 9.664e-05 5.89e-05 0.000185 NA NA 195780221 MUC4 4585 . GRCh38 chr3 195780371 195780372 + In_Frame_Ins INS - - TGAGGAAGGGCTGGTGACATGAAGAGGGGTGACGTGACCTGTAGATACTGAGGAAGTGCTGGTGACAGGAAGAGGGGTGGCCTGACCTGTGGATGA novel NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.11208_11209insTCATCCACAGGTCAGGCCACCCCTCTTCCTGTCACCAGCACTTCCTCAGTATCTACAGGTCACGTCACCCCTCTTCATGTCACCAGCCCTTCCTCA p.Ser3736_Ala3737insSerSerThrGlyGlnAlaThrProLeuProValThrSerThrSerSerValSerThrGlyHisValThrProLeuHisValThrSerProSerSer p.S3736_A3737insSSTGQATPLPVTSTSSVSTGHVTPLHVTSPSS ENST00000463781 2/25 NA NA NA NA NA NA MUC4,inframe_insertion,p.Ser3736_Ala3737insSerSerThrGlyGlnAlaThrProLeuProValThrSerThrSerSerValSerThrGlyHisValThrProLeuHisValThrSerProSerSer,ENST00000463781,NM_018406.7;MUC4,inframe_insertion,p.Ser3736_Ala3737insSerSerThrGlyGlnAlaThrProLeuProValThrSerThrSerSerValSerThrGlyHisValThrProLeuHisValThrSerProSerSer,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.6;MUC4,intron_variant,,ENST00000349607,NM_138297.5;MUC4,inframe_insertion,p.Ser3736_Ala3737insSerSerThrGlyGlnAlaThrProLeuProValThrSerThrSerSerValSerThrGlyHisValThrProLeuHisValThrSerProSerSer,ENST00000478156,;MUC4,inframe_insertion,p.Ser3736_Ala3737insSerSerThrGlyGlnAlaThrProLeuProValThrSerThrSerSerValSerThrGlyHisValThrProLeuHisValThrSerProSerSer,ENST00000466475,;MUC4,inframe_insertion,p.Ser3736_Ala3737insSerSerThrGlyGlnAlaThrProLeuProValThrSerThrSerSerValSerThrGlyHisValThrProLeuHisValThrSerProSerSer,ENST00000477756,;MUC4,inframe_insertion,p.Ser3736_Ala3737insSerSerThrGlyGlnAlaThrProLeuProValThrSerThrSerSerValSerThrGlyHisValThrProLeuHisValThrSerProSerSer,ENST00000477086,;MUC4,inframe_insertion,p.Ser3736_Ala3737insSerSerThrGlyGlnAlaThrProLeuProValThrSerThrSerSerValSerThrGlyHisValThrProLeuHisValThrSerProSerSer,ENST00000480843,;MUC4,inframe_insertion,p.Ser3736_Ala3737insSerSerThrGlyGlnAlaThrProLeuProValThrSerThrSerSerValSerThrGlyHisValThrProLeuHisValThrSerProSerSer,ENST00000462323,;MUC4,inframe_insertion,p.Ser3736_Ala3737insSerSerThrGlyGlnAlaThrProLeuProValThrSerThrSerSerValSerThrGlyHisValThrProLeuHisValThrSerProSerSer,ENST00000470451,;MUC4,inframe_insertion,p.Ser3736_Ala3737insSerSerThrGlyGlnAlaThrProLeuProValThrSerThrSerSerValSerThrGlyHisValThrProLeuHisValThrSerProSerSer,ENST00000479406,;MUC4,upstream_gene_variant,,ENST00000308466,;MUC4,upstream_gene_variant,,ENST00000339251,;MUC4,upstream_gene_variant,,ENST00000392407,;MUC4,upstream_gene_variant,,ENST00000415455,;MUC4,upstream_gene_variant,,ENST00000448861,;,regulatory_region_variant,,ENSR00001078001,; TGAGGAAGGGCTGGTGACATGAAGAGGGGTGACGTGACCTGTAGATACTGAGGAAGTGCTGGTGACAGGAAGAGGGGTGGCCTGACCTGTGGATGA ENSG00000145113 ENST00000463781 Transcript inframe_insertion 11320-11321/16756 11208-11209/16239 3736-3737/5412 -/SSTGQATPLPVTSTSSVSTGHVTPLHVTSPSS -/TCATCCACAGGTCAGGCCACCCCTCTTCCTGTCACCAGCACTTCCTCAGTATCTACAGGTCACGTCACCCCTCTTCATGTCACCAGCCCTTCCTCA 1 NA -1 MUC4 HGNC HGNC:7514 protein_coding YES CCDS54700.1 ENSP00000417498 E9PDY6.64 UPI0001B3CB30 NM_018406.7 2/25 MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 insertion 5 NA NA 1 . GCT . 11703.64 NA NA NA NA NA NA NA NA NA 195780371 MUC4 4585 . GRCh38 chr3 195781237 195781238 + In_Frame_Ins INS - - AGGAAGGGCTGGTGACAGGAAGAGGGGTGGTGTGACCTGTGGATGCTA rs771345062 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.10342_10343insTAGCATCCACAGGTCACACCACCCCTCTTCCTGTCACCAGCCCTTCCT p.Ser3447_Ser3448insLeuAlaSerThrGlyHisThrThrProLeuProValThrSerProSer p.S3447_S3448insLASTGHTTPLPVTSPS ENST00000463781 2/25 NA NA NA NA NA NA MUC4,inframe_insertion,p.Ser3447_Ser3448insLeuAlaSerThrGlyHisThrThrProLeuProValThrSerProSer,ENST00000463781,NM_018406.7;MUC4,inframe_insertion,p.Ser3447_Ser3448insLeuAlaSerThrGlyHisThrThrProLeuProValThrSerProSer,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.6;MUC4,intron_variant,,ENST00000349607,NM_138297.5;MUC4,inframe_insertion,p.Ser3447_Ser3448insLeuAlaSerThrGlyHisThrThrProLeuProValThrSerProSer,ENST00000478156,;MUC4,inframe_insertion,p.Ser3447_Ser3448insLeuAlaSerThrGlyHisThrThrProLeuProValThrSerProSer,ENST00000466475,;MUC4,inframe_insertion,p.Ser3447_Ser3448insLeuAlaSerThrGlyHisThrThrProLeuProValThrSerProSer,ENST00000477756,;MUC4,inframe_insertion,p.Ser3447_Ser3448insLeuAlaSerThrGlyHisThrThrProLeuProValThrSerProSer,ENST00000477086,;MUC4,inframe_insertion,p.Ser3447_Ser3448insLeuAlaSerThrGlyHisThrThrProLeuProValThrSerProSer,ENST00000480843,;MUC4,inframe_insertion,p.Ser3447_Ser3448insLeuAlaSerThrGlyHisThrThrProLeuProValThrSerProSer,ENST00000462323,;MUC4,inframe_insertion,p.Ser3447_Ser3448insLeuAlaSerThrGlyHisThrThrProLeuProValThrSerProSer,ENST00000470451,;MUC4,inframe_insertion,p.Ser3447_Ser3448insLeuAlaSerThrGlyHisThrThrProLeuProValThrSerProSer,ENST00000479406,;MUC4,upstream_gene_variant,,ENST00000308466,;MUC4,upstream_gene_variant,,ENST00000339251,;MUC4,upstream_gene_variant,,ENST00000392407,;MUC4,upstream_gene_variant,,ENST00000415455,;MUC4,upstream_gene_variant,,ENST00000448861,;,regulatory_region_variant,,ENSR00001078001,; AGGAAGGGCTGGTGACAGGAAGAGGGGTGGTGTGACCTGTGGATGCTA ENSG00000145113 ENST00000463781 Transcript inframe_insertion 10454-10455/16756 10342-10343/16239 3448/5412 S/LASTGHTTPLPVTSPSS tca/tTAGCATCCACAGGTCACACCACCCCTCTTCCTGTCACCAGCCCTTCCTca rs771345062 1 NA -1 MUC4 HGNC HGNC:7514 protein_coding YES CCDS54700.1 ENSP00000417498 E9PDY6.64 UPI0001B3CB30 NM_018406.7 2/25 MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 insertion 5 NA NA 1 . TGA . 18552.64 NA NA NA NA NA NA NA NA NA 195781237 MUC4 4585 . GRCh38 chr3 195781571 195781666 + In_Frame_Del DEL CTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA CTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA - novel NA HCI-EC-23 NORMAL CTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA CTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.9914_10009del p.Val3305_Ser3336del p.V3305_S3336del ENST00000463781 2/25 NA NA NA NA NA NA MUC4,inframe_deletion,p.Val3305_Ser3336del,ENST00000463781,NM_018406.7;MUC4,inframe_deletion,p.Val3305_Ser3336del,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.6;MUC4,intron_variant,,ENST00000349607,NM_138297.5;MUC4,inframe_deletion,p.Val3305_Ser3336del,ENST00000478156,;MUC4,inframe_deletion,p.Val3305_Ser3336del,ENST00000466475,;MUC4,inframe_deletion,p.Val3305_Ser3336del,ENST00000477756,;MUC4,inframe_deletion,p.Val3305_Ser3336del,ENST00000477086,;MUC4,inframe_deletion,p.Val3305_Ser3336del,ENST00000480843,;MUC4,inframe_deletion,p.Val3305_Ser3336del,ENST00000462323,;MUC4,inframe_deletion,p.Val3305_Ser3336del,ENST00000470451,;MUC4,inframe_deletion,p.Val3305_Ser3336del,ENST00000479406,;MUC4,upstream_gene_variant,,ENST00000308466,;MUC4,upstream_gene_variant,,ENST00000339251,;MUC4,upstream_gene_variant,,ENST00000392407,;MUC4,upstream_gene_variant,,ENST00000415455,;MUC4,upstream_gene_variant,,ENST00000448861,;,regulatory_region_variant,,ENSR00001078001,; - ENSG00000145113 ENST00000463781 Transcript inframe_deletion 10026-10121/16756 9914-10009/16239 3305-3337/5412 VSTGHATPLLVTDASSASTGHATPLHVTSPSSA/A gTATCCACAGGTCACGCCACTCCTCTTCTTGTCACCGACGCTTCCTCAGCATCCACAGGTCACGCCACCCCTCTTCATGTCACCAGCCCTTCCTCAGca/gca 1 NA -1 MUC4 HGNC HGNC:7514 protein_coding YES CCDS54700.1 ENSP00000417498 E9PDY6.64 UPI0001B3CB30 NM_018406.7 2/25 MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 deletion 5 NA NA 1 . TGCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATAC . 7917.6 NA NA NA NA NA NA NA NA NA 195781570 MUC4 4585 . GRCh38 chr3 195782549 195782644 + In_Frame_Del DEL CAGGAAGAGAGGTGGCGTGACCTATGGATGCTGAGGAAGTGTCGGTGACAGGAAGAAGGGTGGCGTGACCTGTGGATGCTGAGGAAGTGTCGGTGT CAGGAAGAGAGGTGGCGTGACCTATGGATGCTGAGGAAGTGTCGGTGACAGGAAGAAGGGTGGCGTGACCTGTGGATGCTGAGGAAGTGTCGGTGT - novel NA HCI-EC-23 NORMAL CAGGAAGAGAGGTGGCGTGACCTATGGATGCTGAGGAAGTGTCGGTGACAGGAAGAAGGGTGGCGTGACCTGTGGATGCTGAGGAAGTGTCGGTGT CAGGAAGAGAGGTGGCGTGACCTATGGATGCTGAGGAAGTGTCGGTGACAGGAAGAAGGGTGGCGTGACCTGTGGATGCTGAGGAAGTGTCGGTGT NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.8936_9031del p.Asp2979_Pro3010del p.D2979_P3010del ENST00000463781 2/25 NA NA NA NA NA NA MUC4,inframe_deletion,p.Asp2979_Pro3010del,ENST00000463781,NM_018406.7;MUC4,inframe_deletion,p.Asp2979_Pro3010del,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.6;MUC4,intron_variant,,ENST00000349607,NM_138297.5;MUC4,inframe_deletion,p.Asp2979_Pro3010del,ENST00000478156,;MUC4,inframe_deletion,p.Asp2979_Pro3010del,ENST00000466475,;MUC4,inframe_deletion,p.Asp2979_Pro3010del,ENST00000477756,;MUC4,inframe_deletion,p.Asp2979_Pro3010del,ENST00000477086,;MUC4,inframe_deletion,p.Asp2979_Pro3010del,ENST00000480843,;MUC4,inframe_deletion,p.Asp2979_Pro3010del,ENST00000462323,;MUC4,inframe_deletion,p.Asp2979_Pro3010del,ENST00000470451,;MUC4,inframe_deletion,p.Asp2979_Pro3010del,ENST00000479406,;MUC4,upstream_gene_variant,,ENST00000308466,;MUC4,upstream_gene_variant,,ENST00000339251,;MUC4,upstream_gene_variant,,ENST00000392407,;MUC4,upstream_gene_variant,,ENST00000415455,;MUC4,upstream_gene_variant,,ENST00000448861,;,regulatory_region_variant,,ENSR00001078001,; - ENSG00000145113 ENST00000463781 Transcript inframe_deletion 9048-9143/16756 8936-9031/16239 2979-3011/5412 DTDTSSASTGHATLLPVTDTSSASIGHATSLPV/V gACACCGACACTTCCTCAGCATCCACAGGTCACGCCACCCTTCTTCCTGTCACCGACACTTCCTCAGCATCCATAGGTCACGCCACCTCTCTTCCTGtc/gtc 1 NA -1 MUC4 HGNC HGNC:7514 protein_coding YES CCDS54700.1 ENSP00000417498 E9PDY6.64 UPI0001B3CB30 NM_018406.7 2/25 MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 deletion 5 NA NA 1 . GACAGGAAGAGAGGTGGCGTGACCTATGGATGCTGAGGAAGTGTCGGTGACAGGAAGAAGGGTGGCGTGACCTGTGGATGCTGAGGAAGTGTCGGTGTC . 10467.6 NA NA NA NA NA NA NA NA NA 195782548 MUC4 4585 . GRCh38 chr3 195783504 195783504 + Silent SNP G G A rs750168264 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.8076C>T p.Thr2692= p.T2692= ENST00000463781 2/25 NA NA NA NA NA NA MUC4,synonymous_variant,p.Thr2692=,ENST00000463781,NM_018406.7;MUC4,synonymous_variant,p.Thr2692=,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.6;MUC4,intron_variant,,ENST00000349607,NM_138297.5;MUC4,synonymous_variant,p.Thr2692=,ENST00000478156,;MUC4,synonymous_variant,p.Thr2692=,ENST00000466475,;MUC4,synonymous_variant,p.Thr2692=,ENST00000477756,;MUC4,synonymous_variant,p.Thr2692=,ENST00000477086,;MUC4,synonymous_variant,p.Thr2692=,ENST00000480843,;MUC4,synonymous_variant,p.Thr2692=,ENST00000462323,;MUC4,synonymous_variant,p.Thr2692=,ENST00000470451,;MUC4,synonymous_variant,p.Thr2692=,ENST00000479406,;MUC4,upstream_gene_variant,,ENST00000308466,;MUC4,upstream_gene_variant,,ENST00000339251,;MUC4,upstream_gene_variant,,ENST00000392407,;MUC4,upstream_gene_variant,,ENST00000415455,;MUC4,upstream_gene_variant,,ENST00000448861,;,regulatory_region_variant,,ENSR00001078001,; A ENSG00000145113 ENST00000463781 Transcript synonymous_variant 8188/16756 8076/16239 2692/5412 T acC/acT rs750168264 1 NA -1 MUC4 HGNC HGNC:7514 protein_coding YES CCDS54700.1 ENSP00000417498 E9PDY6.64 UPI0001B3CB30 NM_018406.7 2/25 MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA 1 . CGG . 5952.03 7.34e-05 NA 8.617e-05 NA NA 6.832e-05 0.0001388 NA NA 195783504 MUC4 4585 . GRCh38 chr3 195783847 195783847 + Missense_Mutation SNP G G T rs80005560 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.7733C>A p.Pro2578His p.P2578H ENST00000463781 2/25 NA NA NA NA NA NA MUC4,missense_variant,p.Pro2578His,ENST00000463781,NM_018406.7;MUC4,missense_variant,p.Pro2578His,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.6;MUC4,intron_variant,,ENST00000349607,NM_138297.5;MUC4,missense_variant,p.Pro2578His,ENST00000478156,;MUC4,missense_variant,p.Pro2578His,ENST00000466475,;MUC4,missense_variant,p.Pro2578His,ENST00000477756,;MUC4,missense_variant,p.Pro2578His,ENST00000477086,;MUC4,missense_variant,p.Pro2578His,ENST00000480843,;MUC4,missense_variant,p.Pro2578His,ENST00000462323,;MUC4,missense_variant,p.Pro2578His,ENST00000470451,;MUC4,missense_variant,p.Pro2578His,ENST00000479406,;,regulatory_region_variant,,ENSR00001078001,; T ENSG00000145113 ENST00000463781 Transcript missense_variant 7845/16756 7733/16239 2578/5412 P/H cCt/cAt rs80005560,COSV62127633 1 NA -1 MUC4 HGNC HGNC:7514 protein_coding YES CCDS54700.1 ENSP00000417498 E9PDY6.64 UPI0001B3CB30 NM_018406.7 tolerated_low_confidence(0.05) possibly_damaging(0.897) 2/25 MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 5 NA 0,1 NA 1 . AGG . 26939.04 NA NA NA NA NA NA NA NA NA 195783847 MUC4 4585 . GRCh38 chr3 195783874 195783874 + Missense_Mutation SNP G G A rs2453138 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.7706C>T p.Ala2569Val p.A2569V ENST00000463781 2/25 NA NA NA NA NA NA MUC4,missense_variant,p.Ala2569Val,ENST00000463781,NM_018406.7;MUC4,missense_variant,p.Ala2569Val,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.6;MUC4,intron_variant,,ENST00000349607,NM_138297.5;MUC4,missense_variant,p.Ala2569Val,ENST00000478156,;MUC4,missense_variant,p.Ala2569Val,ENST00000466475,;MUC4,missense_variant,p.Ala2569Val,ENST00000477756,;MUC4,missense_variant,p.Ala2569Val,ENST00000477086,;MUC4,missense_variant,p.Ala2569Val,ENST00000480843,;MUC4,missense_variant,p.Ala2569Val,ENST00000462323,;MUC4,missense_variant,p.Ala2569Val,ENST00000470451,;MUC4,missense_variant,p.Ala2569Val,ENST00000479406,;,regulatory_region_variant,,ENSR00001078001,; A ENSG00000145113 ENST00000463781 Transcript missense_variant 7818/16756 7706/16239 2569/5412 A/V gCa/gTa rs2453138,COSV62127639 1 NA -1 MUC4 HGNC HGNC:7514 protein_coding YES CCDS54700.1 ENSP00000417498 E9PDY6.64 UPI0001B3CB30 NM_018406.7 tolerated_low_confidence(1) possibly_damaging(0.494) 2/25 MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 5 NA 0,1 NA 1 . TGC . 20929.6 NA NA NA NA NA NA NA NA NA 195783874 MUC4 4585 . GRCh38 chr3 195783902 195783902 + Missense_Mutation SNP A A G rs2911272 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.7678T>C p.Ser2560Pro p.S2560P ENST00000463781 2/25 NA NA NA NA NA NA MUC4,missense_variant,p.Ser2560Pro,ENST00000463781,NM_018406.7;MUC4,missense_variant,p.Ser2560Pro,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.6;MUC4,intron_variant,,ENST00000349607,NM_138297.5;MUC4,missense_variant,p.Ser2560Pro,ENST00000478156,;MUC4,missense_variant,p.Ser2560Pro,ENST00000466475,;MUC4,missense_variant,p.Ser2560Pro,ENST00000477756,;MUC4,missense_variant,p.Ser2560Pro,ENST00000477086,;MUC4,missense_variant,p.Ser2560Pro,ENST00000480843,;MUC4,missense_variant,p.Ser2560Pro,ENST00000462323,;MUC4,missense_variant,p.Ser2560Pro,ENST00000470451,;MUC4,missense_variant,p.Ser2560Pro,ENST00000479406,;,regulatory_region_variant,,ENSR00001078001,; G ENSG00000145113 ENST00000463781 Transcript missense_variant 7790/16756 7678/16239 2560/5412 S/P Tct/Cct rs2911272 1 NA -1 MUC4 HGNC HGNC:7514 protein_coding YES CCDS54700.1 ENSP00000417498 E9PDY6.64 UPI0001B3CB30 NM_018406.7 tolerated_low_confidence(0.42) benign(0.316) 2/25 MobiDB_lite:mobidb-lite NA 0.6006 0.5951 NA 0.8194 0.6074 0.6288 NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA 1 . GAG . 32107.6 NA NA NA NA NA NA NA NA NA 195783902 MUC4 4585 . GRCh38 chr3 195784909 195784909 + Missense_Mutation SNP G G A rs391928 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.6671C>T p.Pro2224Leu p.P2224L ENST00000463781 2/25 NA NA NA NA NA NA MUC4,missense_variant,p.Pro2224Leu,ENST00000463781,NM_018406.7;MUC4,missense_variant,p.Pro2224Leu,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.6;MUC4,intron_variant,,ENST00000349607,NM_138297.5;MUC4,missense_variant,p.Pro2224Leu,ENST00000478156,;MUC4,missense_variant,p.Pro2224Leu,ENST00000466475,;MUC4,missense_variant,p.Pro2224Leu,ENST00000477756,;MUC4,missense_variant,p.Pro2224Leu,ENST00000477086,;MUC4,missense_variant,p.Pro2224Leu,ENST00000480843,;MUC4,missense_variant,p.Pro2224Leu,ENST00000462323,;MUC4,missense_variant,p.Pro2224Leu,ENST00000470451,;MUC4,missense_variant,p.Pro2224Leu,ENST00000479406,;,regulatory_region_variant,,ENSR00001078001,;,TF_binding_site_variant,,ENSM00207729488,;,TF_binding_site_variant,,ENSM00207968746,; A ENSG00000145113 ENST00000463781 Transcript missense_variant 6783/16756 6671/16239 2224/5412 P/L cCt/cTt rs391928,COSV62127727 1 NA -1 MUC4 HGNC HGNC:7514 protein_coding YES CCDS54700.1 ENSP00000417498 E9PDY6.64 UPI0001B3CB30 NM_018406.7 deleterious_low_confidence(0) possibly_damaging(0.722) 2/25 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 5 NA 0,1 NA 1 . AGG . 14940.6 NA NA NA NA NA NA NA NA NA 195784909 MUC4 4585 . GRCh38 chr3 195785236 195785236 + Missense_Mutation SNP T T A rs374495657 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.6344A>T p.Asp2115Val p.D2115V ENST00000463781 2/25 NA NA NA NA NA NA MUC4,missense_variant,p.Asp2115Val,ENST00000463781,NM_018406.7;MUC4,missense_variant,p.Asp2115Val,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.6;MUC4,intron_variant,,ENST00000349607,NM_138297.5;MUC4,missense_variant,p.Asp2115Val,ENST00000478156,;MUC4,missense_variant,p.Asp2115Val,ENST00000466475,;MUC4,missense_variant,p.Asp2115Val,ENST00000477756,;MUC4,missense_variant,p.Asp2115Val,ENST00000477086,;MUC4,missense_variant,p.Asp2115Val,ENST00000480843,;MUC4,missense_variant,p.Asp2115Val,ENST00000462323,;MUC4,missense_variant,p.Asp2115Val,ENST00000470451,;MUC4,missense_variant,p.Asp2115Val,ENST00000479406,;,regulatory_region_variant,,ENSR00001078001,; A ENSG00000145113 ENST00000463781 Transcript missense_variant 6456/16756 6344/16239 2115/5412 D/V gAc/gTc rs374495657 1 NA -1 MUC4 HGNC HGNC:7514 protein_coding YES CCDS54700.1 ENSP00000417498 E9PDY6.64 UPI0001B3CB30 NM_018406.7 tolerated_low_confidence(1) possibly_damaging(0.811) 2/25 MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA 24601690 NA NA NA NA MODERATE 1 SNV 5 NA NA 1 . GTC . 126334.05 NA NA NA NA NA NA NA NA NA 195785236 MUC4 4585 . GRCh38 chr3 195785315 195785315 + Missense_Mutation SNP T T C rs202060675 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.6265A>G p.Ile2089Val p.I2089V ENST00000463781 2/25 NA NA NA NA NA NA MUC4,missense_variant,p.Ile2089Val,ENST00000463781,NM_018406.7;MUC4,missense_variant,p.Ile2089Val,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.6;MUC4,intron_variant,,ENST00000349607,NM_138297.5;MUC4,missense_variant,p.Ile2089Val,ENST00000478156,;MUC4,missense_variant,p.Ile2089Val,ENST00000466475,;MUC4,missense_variant,p.Ile2089Val,ENST00000477756,;MUC4,missense_variant,p.Ile2089Val,ENST00000477086,;MUC4,missense_variant,p.Ile2089Val,ENST00000480843,;MUC4,missense_variant,p.Ile2089Val,ENST00000462323,;MUC4,missense_variant,p.Ile2089Val,ENST00000470451,;MUC4,missense_variant,p.Ile2089Val,ENST00000479406,;,regulatory_region_variant,,ENSR00001078001,; C ENSG00000145113 ENST00000463781 Transcript missense_variant 6377/16756 6265/16239 2089/5412 I/V Ata/Gta rs202060675,COSV62143175 1 NA -1 MUC4 HGNC HGNC:7514 protein_coding YES CCDS54700.1 ENSP00000417498 E9PDY6.64 UPI0001B3CB30 NM_018406.7 tolerated_low_confidence(1) benign(0.031) 2/25 NA 1 1 NA 1 1 1 NA NA 0,1 24601690 NA NA NA NA MODERATE 1 SNV 5 NA 0,1 NA 1 . ATT . 130258.05 NA NA NA NA NA NA NA NA NA 195785315 MUC4 4585 . GRCh38 chr3 195785341 195785341 + Missense_Mutation SNP G G T rs75588776 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.6239C>A p.Pro2080His p.P2080H ENST00000463781 2/25 NA NA NA NA NA NA MUC4,missense_variant,p.Pro2080His,ENST00000463781,NM_018406.7;MUC4,missense_variant,p.Pro2080His,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.6;MUC4,intron_variant,,ENST00000349607,NM_138297.5;MUC4,missense_variant,p.Pro2080His,ENST00000478156,;MUC4,missense_variant,p.Pro2080His,ENST00000466475,;MUC4,missense_variant,p.Pro2080His,ENST00000477756,;MUC4,missense_variant,p.Pro2080His,ENST00000477086,;MUC4,missense_variant,p.Pro2080His,ENST00000480843,;MUC4,missense_variant,p.Pro2080His,ENST00000462323,;MUC4,missense_variant,p.Pro2080His,ENST00000470451,;MUC4,missense_variant,p.Pro2080His,ENST00000479406,;,regulatory_region_variant,,ENSR00001078001,; T ENSG00000145113 ENST00000463781 Transcript missense_variant 6351/16756 6239/16239 2080/5412 P/H cCt/cAt rs75588776,COSV62127763 1 NA -1 MUC4 HGNC HGNC:7514 protein_coding YES CCDS54700.1 ENSP00000417498 E9PDY6.64 UPI0001B3CB30 NM_018406.7 deleterious_low_confidence(0) possibly_damaging(0.897) 2/25 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 5 NA 0,1 NA 1 . AGG . 14688.6 NA NA NA NA NA NA NA NA NA 195785341 MUC4 4585 . GRCh38 chr3 195785374 195785374 + Missense_Mutation SNP T T C rs62282486 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.6206A>G p.Asn2069Ser p.N2069S ENST00000463781 2/25 NA NA NA NA NA NA MUC4,missense_variant,p.Asn2069Ser,ENST00000463781,NM_018406.7;MUC4,missense_variant,p.Asn2069Ser,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.6;MUC4,intron_variant,,ENST00000349607,NM_138297.5;MUC4,missense_variant,p.Asn2069Ser,ENST00000478156,;MUC4,missense_variant,p.Asn2069Ser,ENST00000466475,;MUC4,missense_variant,p.Asn2069Ser,ENST00000477756,;MUC4,missense_variant,p.Asn2069Ser,ENST00000477086,;MUC4,missense_variant,p.Asn2069Ser,ENST00000480843,;MUC4,missense_variant,p.Asn2069Ser,ENST00000462323,;MUC4,missense_variant,p.Asn2069Ser,ENST00000470451,;MUC4,missense_variant,p.Asn2069Ser,ENST00000479406,;,regulatory_region_variant,,ENSR00001078001,; C ENSG00000145113 ENST00000463781 Transcript missense_variant 6318/16756 6206/16239 2069/5412 N/S aAc/aGc rs62282486 1 NA -1 MUC4 HGNC HGNC:7514 protein_coding YES CCDS54700.1 ENSP00000417498 E9PDY6.64 UPI0001B3CB30 NM_018406.7 tolerated_low_confidence(0.58) benign(0.301) 2/25 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA 1 . GTT . 131444.03 NA NA NA NA NA NA NA NA NA 195785374 MUC4 4585 . GRCh38 chr3 195785416 195785416 + Missense_Mutation SNP G G A rs113602668 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.6164C>T p.Ser2055Phe p.S2055F ENST00000463781 2/25 NA NA NA NA NA NA MUC4,missense_variant,p.Ser2055Phe,ENST00000463781,NM_018406.7;MUC4,missense_variant,p.Ser2055Phe,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.6;MUC4,intron_variant,,ENST00000349607,NM_138297.5;MUC4,missense_variant,p.Ser2055Phe,ENST00000478156,;MUC4,missense_variant,p.Ser2055Phe,ENST00000466475,;MUC4,missense_variant,p.Ser2055Phe,ENST00000477756,;MUC4,missense_variant,p.Ser2055Phe,ENST00000477086,;MUC4,missense_variant,p.Ser2055Phe,ENST00000480843,;MUC4,missense_variant,p.Ser2055Phe,ENST00000462323,;MUC4,missense_variant,p.Ser2055Phe,ENST00000470451,;MUC4,missense_variant,p.Ser2055Phe,ENST00000479406,;,regulatory_region_variant,,ENSR00001078001,; A ENSG00000145113 ENST00000463781 Transcript missense_variant 6276/16756 6164/16239 2055/5412 S/F tCc/tTc rs113602668 1 NA -1 MUC4 HGNC HGNC:7514 protein_coding YES CCDS54700.1 ENSP00000417498 E9PDY6.64 UPI0001B3CB30 NM_018406.7 deleterious_low_confidence(0) possibly_damaging(0.496) 2/25 MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA 1 . GGA . 16882.6 NA NA NA NA NA NA NA NA NA 195785416 MUC4 4585 . GRCh38 chr3 195786908 195786908 + Missense_Mutation SNP C C T rs3103959 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4672G>A p.Ala1558Thr p.A1558T ENST00000463781 2/25 NA NA NA NA NA NA MUC4,missense_variant,p.Ala1558Thr,ENST00000463781,NM_018406.7;MUC4,missense_variant,p.Ala1558Thr,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.6;MUC4,intron_variant,,ENST00000349607,NM_138297.5;MUC4,missense_variant,p.Ala1558Thr,ENST00000478156,;MUC4,missense_variant,p.Ala1558Thr,ENST00000466475,;MUC4,missense_variant,p.Ala1558Thr,ENST00000477756,;MUC4,missense_variant,p.Ala1558Thr,ENST00000477086,;MUC4,missense_variant,p.Ala1558Thr,ENST00000480843,;MUC4,missense_variant,p.Ala1558Thr,ENST00000462323,;MUC4,missense_variant,p.Ala1558Thr,ENST00000470451,;MUC4,missense_variant,p.Ala1558Thr,ENST00000479406,;,regulatory_region_variant,,ENSR00001078001,; T ENSG00000145113 ENST00000463781 Transcript missense_variant 4784/16756 4672/16239 1558/5412 A/T Gct/Act rs3103959 1 NA -1 MUC4 HGNC HGNC:7514 protein_coding YES CCDS54700.1 ENSP00000417498 E9PDY6.64 UPI0001B3CB30 NM_018406.7 tolerated_low_confidence(0.19) possibly_damaging(0.494) 2/25 MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA 1 . GCG . 18530.6 NA NA NA NA NA NA NA NA NA 195786908 MUC4 4585 . GRCh38 chr3 195788543 195788544 + In_Frame_Ins INS - - GGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATTCTGAGGAAGTGTC rs71180964 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3036_3037insGACACTTCCTCAGAATCCACAGGTCACGCCACCCCTCTTCCTGTCACC p.Thr1012_Ser1013insAspThrSerSerGluSerThrGlyHisAlaThrProLeuProValThr p.T1012_S1013insDTSSESTGHATPLPVT ENST00000463781 2/25 NA NA NA NA NA NA MUC4,inframe_insertion,p.Thr1012_Ser1013insAspThrSerSerGluSerThrGlyHisAlaThrProLeuProValThr,ENST00000463781,NM_018406.7;MUC4,inframe_insertion,p.Thr1012_Ser1013insAspThrSerSerGluSerThrGlyHisAlaThrProLeuProValThr,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.6;MUC4,intron_variant,,ENST00000349607,NM_138297.5;MUC4,inframe_insertion,p.Thr1012_Ser1013insAspThrSerSerGluSerThrGlyHisAlaThrProLeuProValThr,ENST00000478156,;MUC4,inframe_insertion,p.Thr1012_Ser1013insAspThrSerSerGluSerThrGlyHisAlaThrProLeuProValThr,ENST00000466475,;MUC4,inframe_insertion,p.Thr1012_Ser1013insAspThrSerSerGluSerThrGlyHisAlaThrProLeuProValThr,ENST00000477756,;MUC4,inframe_insertion,p.Thr1012_Ser1013insAspThrSerSerGluSerThrGlyHisAlaThrProLeuProValThr,ENST00000477086,;MUC4,inframe_insertion,p.Thr1012_Ser1013insAspThrSerSerGluSerThrGlyHisAlaThrProLeuProValThr,ENST00000480843,;MUC4,inframe_insertion,p.Thr1012_Ser1013insAspThrSerSerGluSerThrGlyHisAlaThrProLeuProValThr,ENST00000462323,;MUC4,inframe_insertion,p.Thr1012_Ser1013insAspThrSerSerGluSerThrGlyHisAlaThrProLeuProValThr,ENST00000470451,;MUC4,inframe_insertion,p.Thr1012_Ser1013insAspThrSerSerGluSerThrGlyHisAlaThrProLeuProValThr,ENST00000479406,;,regulatory_region_variant,,ENSR00001078001,; GGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATTCTGAGGAAGTGTC ENSG00000145113 ENST00000463781 Transcript inframe_insertion 3148-3149/16756 3036-3037/16239 1012-1013/5412 -/DTSSESTGHATPLPVT -/GACACTTCCTCAGAATCCACAGGTCACGCCACCCCTCTTCCTGTCACC rs71180964 1 NA -1 MUC4 HGNC HGNC:7514 protein_coding YES CCDS54700.1 ENSP00000417498 E9PDY6.64 UPI0001B3CB30 NM_018406.7 2/25 MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 insertion 5 NA NA 1 . CTG . 34666.64 NA NA NA NA NA NA NA NA NA 195788543 MUC4 4585 . GRCh38 chr3 195789330 195789331 + Frame_Shift_Ins INS - - C novel NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2249dup p.Glu752ArgfsTer14 p.E752Rfs*14 ENST00000463781 2/25 NA NA NA NA NA NA MUC4,frameshift_variant,p.Glu752ArgfsTer14,ENST00000463781,NM_018406.7;MUC4,frameshift_variant,p.Glu752ArgfsTer14,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.6;MUC4,intron_variant,,ENST00000349607,NM_138297.5;MUC4,frameshift_variant,p.Glu752ArgfsTer14,ENST00000478156,;MUC4,frameshift_variant,p.Glu752ArgfsTer14,ENST00000466475,;MUC4,frameshift_variant,p.Glu752ArgfsTer14,ENST00000477756,;MUC4,frameshift_variant,p.Glu752ArgfsTer14,ENST00000477086,;MUC4,frameshift_variant,p.Glu752ArgfsTer14,ENST00000480843,;MUC4,frameshift_variant,p.Glu752ArgfsTer14,ENST00000462323,;MUC4,frameshift_variant,p.Glu752ArgfsTer14,ENST00000470451,;MUC4,frameshift_variant,p.Glu752ArgfsTer14,ENST00000479406,;,regulatory_region_variant,,ENSR00000713805,;,regulatory_region_variant,,ENSR00001078001,;,TF_binding_site_variant,,ENSM00205740525,; C ENSG00000145113 ENST00000463781 Transcript frameshift_variant 2361-2362/16756 2249-2250/16239 750/5412 G/GX ggc/ggGc 1 NA -1 MUC4 HGNC HGNC:7514 protein_coding YES CCDS54700.1 ENSP00000417498 E9PDY6.64 UPI0001B3CB30 NM_018406.7 2/25 MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 insertion 5 NA NA 1 . GGC . 3721.64 NA NA NA NA NA NA NA NA NA 195789330 MUC4 4585 . GRCh38 chr3 195791241 195791242 + In_Frame_Ins INS - - GTCTCCTGCGTAACA rs71180965 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.338_339insTGTTACGCAGGAGAC p.Thr113_Ala114insValThrGlnGluThr p.T113_A114insVTQET ENST00000463781 2/25 NA NA NA NA NA NA MUC4,inframe_insertion,p.Thr113_Ala114insValThrGlnGluThr,ENST00000463781,NM_018406.7;MUC4,inframe_insertion,p.Thr113_Ala114insValThrGlnGluThr,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.6;MUC4,intron_variant,,ENST00000349607,NM_138297.5;MUC4,inframe_insertion,p.Thr113_Ala114insValThrGlnGluThr,ENST00000478156,;MUC4,inframe_insertion,p.Thr113_Ala114insValThrGlnGluThr,ENST00000466475,;MUC4,inframe_insertion,p.Thr113_Ala114insValThrGlnGluThr,ENST00000477756,;MUC4,inframe_insertion,p.Thr113_Ala114insValThrGlnGluThr,ENST00000477086,;MUC4,inframe_insertion,p.Thr113_Ala114insValThrGlnGluThr,ENST00000480843,;MUC4,inframe_insertion,p.Thr113_Ala114insValThrGlnGluThr,ENST00000462323,;MUC4,inframe_insertion,p.Thr113_Ala114insValThrGlnGluThr,ENST00000470451,;MUC4,inframe_insertion,p.Thr113_Ala114insValThrGlnGluThr,ENST00000479406,; GTCTCCTGCGTAACA ENSG00000145113 ENST00000463781 Transcript inframe_insertion 450-451/16756 338-339/16239 113/5412 T/TVTQET aca/acTGTTACGCAGGAGACa rs71180965 1 NA -1 MUC4 HGNC HGNC:7514 protein_coding YES CCDS54700.1 ENSP00000417498 E9PDY6.64 UPI0001B3CB30 NM_018406.7 2/25 NA 0.6611 0.6758 NA 0.8095 0.8221 0.6779 0.6632 0.7882 NA NA NA NA MODERATE 1 insertion 5 NA NA 1 . CTG . 8767.64 NA NA NA NA NA NA NA NA NA 195791241 TNK2 10188 . GRCh38 chr3 195868193 195868193 + Missense_Mutation SNP A A G rs1299004946 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2294T>C p.Leu765Pro p.L765P ENST00000381916 13/15 NA NA NA NA NA NA TNK2,missense_variant,p.Leu687Pro,ENST00000333602,NM_005781.5;TNK2,missense_variant,p.Leu687Pro,ENST00000672024,;TNK2,missense_variant,p.Leu719Pro,ENST00000678220,NM_001382271.1;TNK2,missense_variant,p.Leu702Pro,ENST00000672887,NM_001382273.1,NM_001382274.1;TNK2,missense_variant,p.Leu719Pro,ENST00000673038,;TNK2,missense_variant,p.Leu687Pro,ENST00000673420,;TNK2,missense_variant,p.Leu719Pro,ENST00000428187,NM_001308046.1,NM_001382275.1;TNK2,missense_variant,p.Leu726Pro,ENST00000671753,NM_001010938.2,NM_001382272.1;TNK2,missense_variant,p.Leu765Pro,ENST00000381916,;TNK2,missense_variant,p.Leu197Pro,ENST00000672548,;TNK2,downstream_gene_variant,,ENST00000671767,;TNK2,downstream_gene_variant,,ENST00000672098,;TNK2,downstream_gene_variant,,ENST00000672669,;TNK2,downstream_gene_variant,,ENST00000672886,;TNK2,non_coding_transcript_exon_variant,,ENST00000673440,;TNK2,downstream_gene_variant,,ENST00000671726,;TNK2,non_coding_transcript_exon_variant,,ENST00000673236,;TNK2,downstream_gene_variant,,ENST00000439230,;TNK2,downstream_gene_variant,,ENST00000671831,;TNK2,downstream_gene_variant,,ENST00000672320,;TNK2,downstream_gene_variant,,ENST00000672614,;TNK2,downstream_gene_variant,,ENST00000673358,;TNK2,downstream_gene_variant,,ENST00000673374,; G ENSG00000061938 ENST00000381916 Transcript missense_variant 2439/4222 2294/3261 765/1086 L/P cTg/cCg rs1299004946 1 NA -1 TNK2 HGNC HGNC:19297 protein_coding YES CCDS33927.1 ENSP00000371341 A0A499FJ16.7 UPI00004C9B08 deleterious_low_confidence(0.04) probably_damaging(0.999) 13/15 PANTHER:PTHR14254,PANTHER:PTHR14254:SF6 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 2 NA NA 1 . CAG . 5594.6 4.258e-06 NA NA NA NA NA 9.614e-06 NA NA 195868193 RNF168 165918 . GRCh38 chr3 196475303 196475303 + Silent SNP T T G novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.690A>C p.Thr230= p.T230= ENST00000318037 5/6 NA NA NA NA NA NA RNF168,synonymous_variant,p.Thr230=,ENST00000318037,NM_152617.4;AC117490.2,non_coding_transcript_exon_variant,,ENST00000610042,;RNF168,3_prime_UTR_variant,,ENST00000437070,; G ENSG00000163961 ENST00000318037 Transcript synonymous_variant 1285/5347 690/1716 230/571 T acA/acC 1 NA -1 RNF168 HGNC HGNC:26661 protein_coding YES CCDS3317.1 ENSP00000320898 Q8IYW5.159 UPI00000741D1 NM_152617.4 5/6 HAMAP:MF_03066,PANTHER:PTHR23328,PANTHER:PTHR23328:SF1,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . GTG . 254.6 NA NA NA NA NA NA NA NA NA 196475303 RNF168 165918 . GRCh38 chr3 196475305 196475305 + Missense_Mutation SNP T T G NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.688A>C p.Thr230Pro p.T230P ENST00000318037 5/6 NA NA NA NA NA NA RNF168,missense_variant,p.Thr230Pro,ENST00000318037,NM_152617.4;AC117490.2,non_coding_transcript_exon_variant,,ENST00000610042,;RNF168,3_prime_UTR_variant,,ENST00000437070,; G ENSG00000163961 ENST00000318037 Transcript missense_variant 1283/5347 688/1716 230/571 T/P Aca/Cca COSV100535168 1 NA -1 RNF168 HGNC HGNC:26661 protein_coding YES CCDS3317.1 ENSP00000320898 Q8IYW5.159 UPI00000741D1 NM_152617.4 deleterious(0) benign(0.296) 5/6 HAMAP:MF_03066,PANTHER:PTHR23328,PANTHER:PTHR23328:SF1,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA 1 NA NA NA NA MODERATE 1 SNV 1 NA 1 NA 1 . GTC . 254.6 NA NA NA NA NA NA NA NA NA 196475305 ZNF721 170960 . GRCh38 chr4 443237 443237 + Silent SNP A A G novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1230T>C p.Ile410= p.I410= ENST00000511833 3/3 NA NA NA NA NA NA ZNF721,synonymous_variant,p.Ile410=,ENST00000511833,NM_133474.4;ZNF721,synonymous_variant,p.Ile398=,ENST00000338977,;ZNF721,intron_variant,,ENST00000506646,;ZNF721,downstream_gene_variant,,ENST00000505900,;AC092574.2,intron_variant,,ENST00000631198,;ABCA11P,intron_variant,,ENST00000451020,;ZNF721,intron_variant,,ENST00000507078,;ABCA11P,intron_variant,,ENST00000507854,;ABCA11P,intron_variant,,ENST00000514396,;ZNF721,intron_variant,,ENST00000515578,; G ENSG00000182903 ENST00000511833 Transcript synonymous_variant 1424/4673 1230/2772 410/923 I atT/atC 1 NA -1 ZNF721 HGNC HGNC:29425 protein_coding YES CCDS46991.1 ENSP00000428878 Q8TF20.135 UPI0000E9B4A9 NM_133474.4 3/3 Gene3D:3.30.160.60,Pfam:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,PANTHER:PTHR23226,PANTHER:PTHR23226,PANTHER:PTHR23226:SF239,PANTHER:PTHR23226:SF239,SMART:SM00355,Superfamily:SSF57667 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW NA SNV 4 NA NA NA . GAA . 3919.6 NA NA NA NA NA NA NA NA NA 443237 NKX1-1 0 . GRCh38 chr4 1406384 1406384 + Missense_Mutation SNP T T C rs72613115 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.59A>G p.Gln20Arg p.Q20R ENST00000422806 1/2 NA NA NA NA NA NA NKX1-1,missense_variant,p.Gln20Arg,ENST00000422806,NM_001290079.1;,regulatory_region_variant,,ENSR00001078440,; C ENSG00000235608 ENST00000422806 Transcript missense_variant 59/1347 59/1347 20/448 Q/R cAg/cGg rs72613115 1 NA -1 NKX1-1 HGNC HGNC:24975 protein_coding YES ENSP00000407978 Q15270.140 UPI0003F1A9E9 NM_001290079.1 tolerated_low_confidence(0.11) unknown(0) 1/2 Low_complexity_(Seg):seg,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite NA 0.761 0.7911 NA 0.6994 0.6581 0.6881 NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . CTG . 1571.03 NA NA NA NA NA NA NA NA NA 1406384 SLBP 7884 . GRCh38 chr4 1696290 1696290 + Missense_Mutation SNP G G A rs767305159 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.562C>T p.Arg188Cys p.R188C ENST00000318386 6/8 NA NA NA NA NA NA SLBP,missense_variant,p.Arg181Cys,ENST00000489418,NM_006527.4;SLBP,missense_variant,p.Arg188Cys,ENST00000318386,;SLBP,missense_variant,p.Arg142Cys,ENST00000429429,NM_001306075.2;SLBP,missense_variant,p.Arg136Cys,ENST00000483348,;SLBP,missense_variant,p.Arg146Cys,ENST00000488267,NM_001306074.2;SLBP,downstream_gene_variant,,ENST00000480936,;,regulatory_region_variant,,ENSR00000164858,; A ENSG00000163950 ENST00000318386 Transcript missense_variant 624/1635 562/834 188/277 R/C Cgt/Tgt rs767305159 1 NA -1 SLBP HGNC HGNC:10904 protein_coding YES ENSP00000316490 F8W8D3.61 UPI0000D4C92B deleterious(0) probably_damaging(1) 6/8 Gene3D:1.10.8.1120,Pfam:PF15247,PANTHER:PTHR17408,PANTHER:PTHR17408:SF7 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 3 NA NA NA . CGT . 1665.6 4.157e-06 NA NA NA NA NA 9.017e-06 NA NA 1696290 SH3BP2 6452 . GRCh38 chr4 2829772 2829772 + Missense_Mutation SNP C C A rs778115531 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1037C>A p.Pro346His p.P346H ENST00000511747 8/13 NA NA NA NA NA NA SH3BP2,missense_variant,p.Pro289His,ENST00000356331,NM_003023.4;SH3BP2,missense_variant,p.Pro317His,ENST00000435136,NM_001145855.2;SH3BP2,missense_variant,p.Pro289His,ENST00000503393,NM_001122681.2;SH3BP2,missense_variant,p.Pro346His,ENST00000511747,NM_001145856.2;SH3BP2,downstream_gene_variant,,ENST00000502260,;SH3BP2,downstream_gene_variant,,ENST00000503219,;SH3BP2,downstream_gene_variant,,ENST00000504294,;SH3BP2,downstream_gene_variant,,ENST00000508385,;SH3BP2,downstream_gene_variant,,ENST00000512014,;SH3BP2,upstream_gene_variant,,ENST00000513069,;SH3BP2,downstream_gene_variant,,ENST00000513095,;SH3BP2,downstream_gene_variant,,ENST00000515183,;SH3BP2,3_prime_UTR_variant,,ENST00000515737,;SH3BP2,non_coding_transcript_exon_variant,,ENST00000510204,;SH3BP2,non_coding_transcript_exon_variant,,ENST00000515802,;SH3BP2,non_coding_transcript_exon_variant,,ENST00000505941,;SH3BP2,intron_variant,,ENST00000504450,;SH3BP2,upstream_gene_variant,,ENST00000452765,;SH3BP2,downstream_gene_variant,,ENST00000506932,;SH3BP2,downstream_gene_variant,,ENST00000509677,;SH3BP2,downstream_gene_variant,,ENST00000510074,;SH3BP2,downstream_gene_variant,,ENST00000511185,;SH3BP2,downstream_gene_variant,,ENST00000511237,;SH3BP2,downstream_gene_variant,,ENST00000511663,;SH3BP2,downstream_gene_variant,,ENST00000512131,;SH3BP2,downstream_gene_variant,,ENST00000513020,; A ENSG00000087266 ENST00000511747 Transcript missense_variant 1076/2351 1037/1857 346/618 P/H cCc/cAc rs778115531 1 NA 1 SH3BP2 HGNC HGNC:10825 protein_coding YES CCDS54716.1 ENSP00000424846 P78314.183 UPI00019638E3 NM_001145856.2 deleterious_low_confidence(0) probably_damaging(0.998) 8/13 PANTHER:PTHR15126,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . CCC . 2751.6 2.803e-05 NA 0.0002027 NA NA NA NA NA NA 2829772 NOP14 8602 . GRCh38 chr4 2963253 2963253 + Missense_Mutation SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.67G>A p.Gly23Ser p.G23S ENST00000416614 1/18 NA NA NA NA NA NA NOP14,missense_variant,p.Gly23Ser,ENST00000416614,NM_001291978.2;NOP14,missense_variant,p.Gly23Ser,ENST00000314262,NM_003703.3;NOP14,missense_variant,p.Gly23Ser,ENST00000502735,;NOP14,missense_variant,p.Gly23Ser,ENST00000398071,NM_001291979.2;GRK4,upstream_gene_variant,,ENST00000345167,NM_001004056.2,NM_001350173.2;GRK4,upstream_gene_variant,,ENST00000398051,NM_005307.3;GRK4,upstream_gene_variant,,ENST00000398052,NM_182982.3;GRK4,upstream_gene_variant,,ENST00000503518,;GRK4,upstream_gene_variant,,ENST00000504933,NM_001004057.2;NOP14-AS1,downstream_gene_variant,,ENST00000503709,;,regulatory_region_variant,,ENSR00000165022,;,TF_binding_site_variant,,ENSM00029161083,; T ENSG00000087269 ENST00000416614 Transcript missense_variant 154/3556 67/2574 23/857 G/S Ggc/Agc 1 NA -1 NOP14 HGNC HGNC:16821 protein_coding YES CCDS33945.1 ENSP00000405068 P78316.160 UPI00001A9472 NM_001291978.2 tolerated(0.86) benign(0.017) 1/18 PANTHER:PTHR23183,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CCC . 5034.6 NA NA NA NA NA NA NA NA NA 2963253 HTT 3064 . GRCh38 chr4 3074876 3074877 + In_Frame_Ins INS - - CAGCAG rs71180116 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.105_110dup p.Gln37_Gln38dup p.Q37_Q38dup ENST00000355072 1/67 NA NA NA NA NA NA HTT,inframe_insertion,p.Gln37_Gln38dup,ENST00000355072,NM_002111.8;HTT-AS,upstream_gene_variant,,ENST00000503893,;HTT-AS,upstream_gene_variant,,ENST00000657282,;HTT-AS,upstream_gene_variant,,ENST00000660368,;HTT-AS,upstream_gene_variant,,ENST00000664062,;AL390065.1,downstream_gene_variant,,ENST00000621529,;HTT,intron_variant,,ENST00000649900,;HTT,downstream_gene_variant,,ENST00000647962,;,regulatory_region_variant,,ENSR00000165041,;,TF_binding_site_variant,,ENSM00000403661,; CAGCAG ENSG00000197386 ENST00000355072 Transcript inframe_insertion 196-197/13475 51-52/9429 17-18/3142 -/QQ -/CAGCAG rs71180116 1 NA 1 HTT HGNC HGNC:4851 protein_coding YES CCDS43206.1 ENSP00000347184 P42858.207 UPI000013D567 NM_002111.8 1/67 PDB-ENSP_mappings:3io4.A,PDB-ENSP_mappings:3io4.B,PDB-ENSP_mappings:3io4.C,PDB-ENSP_mappings:3io6.A,PDB-ENSP_mappings:3io6.B,PDB-ENSP_mappings:3io6.C,PDB-ENSP_mappings:3ior.A,PDB-ENSP_mappings:3ior.B,PDB-ENSP_mappings:3ior.C,PDB-ENSP_mappings:3iot.A,PDB-ENSP_mappings:3iot.B,PDB-ENSP_mappings:3iot.C,PDB-ENSP_mappings:3iou.A,PDB-ENSP_mappings:3iou.B,PDB-ENSP_mappings:3iou.C,PDB-ENSP_mappings:3iov.A,PDB-ENSP_mappings:3iov.B,PDB-ENSP_mappings:3iov.C,PDB-ENSP_mappings:3iow.A,PDB-ENSP_mappings:3iow.B,PDB-ENSP_mappings:3iow.C,PDB-ENSP_mappings:3lrh.B,PDB-ENSP_mappings:3lrh.D,PDB-ENSP_mappings:3lrh.F,PDB-ENSP_mappings:3lrh.H,PDB-ENSP_mappings:3lrh.J,PDB-ENSP_mappings:3lrh.L,PDB-ENSP_mappings:3lrh.N,PDB-ENSP_mappings:3lrh.P,PDB-ENSP_mappings:6ez8.A,PDB-ENSP_mappings:6n8c.A,PDB-ENSP_mappings:6n8c.B,PDB-ENSP_mappings:6n8c.C,PDB-ENSP_mappings:6n8c.D,PDB-ENSP_mappings:6rmh.A,Coiled-coils_(Ncoils):Coil,Superfamily:SSF81995,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA benign,pathogenic,other 20154343,8755937,8401587 NA NA NA NA MODERATE 1 insertion 1 59 1 NA 1 . TCC . 1398.64 NA NA NA NA NA NA NA NA NA 3074876 HTT 3064 . GRCh38 chr4 3074918 3074918 + Silent SNP G G A rs1254473243 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.93G>A p.Gln31= p.Q31= ENST00000355072 1/67 NA NA NA NA NA NA HTT,synonymous_variant,p.Gln31=,ENST00000355072,NM_002111.8;HTT-AS,upstream_gene_variant,,ENST00000503893,;HTT-AS,upstream_gene_variant,,ENST00000657282,;HTT-AS,upstream_gene_variant,,ENST00000660368,;HTT-AS,upstream_gene_variant,,ENST00000664062,;AL390065.1,downstream_gene_variant,,ENST00000621529,;HTT,intron_variant,,ENST00000649900,;HTT,downstream_gene_variant,,ENST00000647962,;,regulatory_region_variant,,ENSR00000165041,; A ENSG00000197386 ENST00000355072 Transcript synonymous_variant 238/13475 93/9429 31/3142 Q caG/caA rs1254473243 1 NA 1 HTT HGNC HGNC:4851 protein_coding YES CCDS43206.1 ENSP00000347184 P42858.207 UPI000013D567 NM_002111.8 1/67 PDB-ENSP_mappings:3io4.A,PDB-ENSP_mappings:3io4.B,PDB-ENSP_mappings:3io4.C,PDB-ENSP_mappings:3io6.A,PDB-ENSP_mappings:3io6.B,PDB-ENSP_mappings:3io6.C,PDB-ENSP_mappings:3ior.A,PDB-ENSP_mappings:3ior.B,PDB-ENSP_mappings:3ior.C,PDB-ENSP_mappings:3iot.A,PDB-ENSP_mappings:3iot.B,PDB-ENSP_mappings:3iot.C,PDB-ENSP_mappings:3iou.A,PDB-ENSP_mappings:3iou.B,PDB-ENSP_mappings:3iou.C,PDB-ENSP_mappings:3iov.A,PDB-ENSP_mappings:3iov.B,PDB-ENSP_mappings:3iov.C,PDB-ENSP_mappings:3iow.A,PDB-ENSP_mappings:3iow.B,PDB-ENSP_mappings:3iow.C,PDB-ENSP_mappings:4fe8.A,PDB-ENSP_mappings:4fe8.B,PDB-ENSP_mappings:4fe8.C,PDB-ENSP_mappings:4feb.A,PDB-ENSP_mappings:4feb.B,PDB-ENSP_mappings:4feb.C,PDB-ENSP_mappings:4fec.A,PDB-ENSP_mappings:4fec.B,PDB-ENSP_mappings:4fec.C,PDB-ENSP_mappings:4fed.A,PDB-ENSP_mappings:4fed.B,PDB-ENSP_mappings:4fed.C,PDB-ENSP_mappings:6ez8.A,PDB-ENSP_mappings:6rmh.A,Coiled-coils_(Ncoils):Coil,Superfamily:SSF81995,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . AGC . 1039.6 NA NA NA NA NA NA NA NA NA 3074918 HTT 3064 . GRCh38 chr4 3074923 3074923 + Missense_Mutation SNP A A C rs1302432328 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.98A>C p.Gln33Pro p.Q33P ENST00000355072 1/67 NA NA NA NA NA NA HTT,missense_variant,p.Gln33Pro,ENST00000355072,NM_002111.8;HTT-AS,upstream_gene_variant,,ENST00000503893,;HTT-AS,upstream_gene_variant,,ENST00000657282,;HTT-AS,upstream_gene_variant,,ENST00000660368,;HTT-AS,upstream_gene_variant,,ENST00000664062,;AL390065.1,downstream_gene_variant,,ENST00000621529,;HTT,intron_variant,,ENST00000649900,;HTT,downstream_gene_variant,,ENST00000647962,;,regulatory_region_variant,,ENSR00000165041,; C ENSG00000197386 ENST00000355072 Transcript missense_variant 243/13475 98/9429 33/3142 Q/P cAg/cCg rs1302432328 1 NA 1 HTT HGNC HGNC:4851 protein_coding YES CCDS43206.1 ENSP00000347184 P42858.207 UPI000013D567 NM_002111.8 tolerated_low_confidence(0.33) benign(0) 1/67 PDB-ENSP_mappings:3io4.A,PDB-ENSP_mappings:3io4.B,PDB-ENSP_mappings:3io4.C,PDB-ENSP_mappings:3io6.A,PDB-ENSP_mappings:3io6.B,PDB-ENSP_mappings:3io6.C,PDB-ENSP_mappings:3ior.A,PDB-ENSP_mappings:3ior.B,PDB-ENSP_mappings:3ior.C,PDB-ENSP_mappings:3iot.A,PDB-ENSP_mappings:3iot.B,PDB-ENSP_mappings:3iot.C,PDB-ENSP_mappings:3iou.A,PDB-ENSP_mappings:3iou.B,PDB-ENSP_mappings:3iou.C,PDB-ENSP_mappings:3iov.A,PDB-ENSP_mappings:3iov.B,PDB-ENSP_mappings:3iov.C,PDB-ENSP_mappings:3iow.A,PDB-ENSP_mappings:3iow.B,PDB-ENSP_mappings:3iow.C,PDB-ENSP_mappings:4fe8.A,PDB-ENSP_mappings:4fe8.B,PDB-ENSP_mappings:4fe8.C,PDB-ENSP_mappings:4feb.A,PDB-ENSP_mappings:4feb.B,PDB-ENSP_mappings:4feb.C,PDB-ENSP_mappings:4fec.A,PDB-ENSP_mappings:4fec.B,PDB-ENSP_mappings:4fec.C,PDB-ENSP_mappings:4fed.A,PDB-ENSP_mappings:4fed.B,PDB-ENSP_mappings:4fed.C,PDB-ENSP_mappings:6ez8.A,PDB-ENSP_mappings:6rmh.A,Coiled-coils_(Ncoils):Coil,Superfamily:SSF81995,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . CAG . 1145.6 NA NA NA NA NA NA NA NA NA 3074923 HTT 3064 . GRCh38 chr4 3074926 3074927 + Frame_Shift_Del DEL AG AG - rs1262594046 NA HCI-EC-23 NORMAL AG AG NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.101_102del p.Gln34ProfsTer48 p.Q34Pfs*48 ENST00000355072 1/67 NA NA NA NA NA NA HTT,frameshift_variant,p.Gln34ProfsTer48,ENST00000355072,NM_002111.8;HTT-AS,upstream_gene_variant,,ENST00000503893,;HTT-AS,upstream_gene_variant,,ENST00000657282,;HTT-AS,upstream_gene_variant,,ENST00000660368,;HTT-AS,upstream_gene_variant,,ENST00000664062,;AL390065.1,downstream_gene_variant,,ENST00000621529,;HTT,intron_variant,,ENST00000649900,;HTT,downstream_gene_variant,,ENST00000647962,;,regulatory_region_variant,,ENSR00000165041,; - ENSG00000197386 ENST00000355072 Transcript frameshift_variant 246-247/13475 101-102/9429 34/3142 Q/X cAG/c rs1262594046 1 NA 1 HTT HGNC HGNC:4851 protein_coding YES CCDS43206.1 ENSP00000347184 P42858.207 UPI000013D567 NM_002111.8 1/67 PDB-ENSP_mappings:3io4.A,PDB-ENSP_mappings:3io4.B,PDB-ENSP_mappings:3io4.C,PDB-ENSP_mappings:3io6.A,PDB-ENSP_mappings:3io6.B,PDB-ENSP_mappings:3io6.C,PDB-ENSP_mappings:3ior.A,PDB-ENSP_mappings:3ior.B,PDB-ENSP_mappings:3ior.C,PDB-ENSP_mappings:3iot.A,PDB-ENSP_mappings:3iot.B,PDB-ENSP_mappings:3iot.C,PDB-ENSP_mappings:3iou.A,PDB-ENSP_mappings:3iou.B,PDB-ENSP_mappings:3iou.C,PDB-ENSP_mappings:3iov.A,PDB-ENSP_mappings:3iov.B,PDB-ENSP_mappings:3iov.C,PDB-ENSP_mappings:3iow.A,PDB-ENSP_mappings:3iow.B,PDB-ENSP_mappings:3iow.C,PDB-ENSP_mappings:4fe8.A,PDB-ENSP_mappings:4fe8.B,PDB-ENSP_mappings:4fe8.C,PDB-ENSP_mappings:4feb.A,PDB-ENSP_mappings:4feb.B,PDB-ENSP_mappings:4feb.C,PDB-ENSP_mappings:4fec.A,PDB-ENSP_mappings:4fec.B,PDB-ENSP_mappings:4fec.C,PDB-ENSP_mappings:4fed.A,PDB-ENSP_mappings:4fed.B,PDB-ENSP_mappings:4fed.C,PDB-ENSP_mappings:6ez8.A,PDB-ENSP_mappings:6rmh.A,Coiled-coils_(Ncoils):Coil,Superfamily:SSF81995,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 NA NA 1 . GCAGC . 1062.6 NA NA NA NA NA NA NA NA NA 3074925 HTT 3064 . GRCh38 chr4 3074930 3074939 + Frame_Shift_Del DEL GCAGCAACAG GCAGCAACAG - rs1560535090 NA HCI-EC-23 NORMAL GCAGCAACAG GCAGCAACAG NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.105_114del p.Gln35HisfsTer63 p.Q35Hfs*63 ENST00000355072 1/67 NA NA NA NA NA NA HTT,frameshift_variant,p.Gln35HisfsTer63,ENST00000355072,NM_002111.8;HTT-AS,upstream_gene_variant,,ENST00000503893,;HTT-AS,upstream_gene_variant,,ENST00000657282,;HTT-AS,upstream_gene_variant,,ENST00000660368,;HTT-AS,upstream_gene_variant,,ENST00000664062,;AL390065.1,downstream_gene_variant,,ENST00000621529,;HTT,intron_variant,,ENST00000649900,;HTT,downstream_gene_variant,,ENST00000647962,;,regulatory_region_variant,,ENSR00000165041,;,TF_binding_site_variant,,ENSM00524581368,; - ENSG00000197386 ENST00000355072 Transcript frameshift_variant 250-259/13475 105-114/9429 35-38/3142 QQQQ/X caGCAGCAACAG/ca rs1560535090 1 NA 1 HTT HGNC HGNC:4851 protein_coding YES CCDS43206.1 ENSP00000347184 P42858.207 UPI000013D567 NM_002111.8 1/67 PDB-ENSP_mappings:3io4.A,PDB-ENSP_mappings:3io4.B,PDB-ENSP_mappings:3io4.C,PDB-ENSP_mappings:3io6.A,PDB-ENSP_mappings:3io6.B,PDB-ENSP_mappings:3io6.C,PDB-ENSP_mappings:3ior.A,PDB-ENSP_mappings:3ior.B,PDB-ENSP_mappings:3ior.C,PDB-ENSP_mappings:3iot.A,PDB-ENSP_mappings:3iot.B,PDB-ENSP_mappings:3iot.C,PDB-ENSP_mappings:3iou.A,PDB-ENSP_mappings:3iou.B,PDB-ENSP_mappings:3iou.C,PDB-ENSP_mappings:3iov.A,PDB-ENSP_mappings:3iov.B,PDB-ENSP_mappings:3iov.C,PDB-ENSP_mappings:3iow.A,PDB-ENSP_mappings:3iow.B,PDB-ENSP_mappings:3iow.C,PDB-ENSP_mappings:4fe8.A,PDB-ENSP_mappings:4fe8.B,PDB-ENSP_mappings:4fe8.C,PDB-ENSP_mappings:4feb.A,PDB-ENSP_mappings:4feb.B,PDB-ENSP_mappings:4feb.C,PDB-ENSP_mappings:4fec.A,PDB-ENSP_mappings:4fec.B,PDB-ENSP_mappings:4fec.C,PDB-ENSP_mappings:4fed.A,PDB-ENSP_mappings:4fed.B,PDB-ENSP_mappings:4fed.C,PDB-ENSP_mappings:6ez8.A,PDB-ENSP_mappings:6rmh.A,Coiled-coils_(Ncoils):Coil,Superfamily:SSF81995,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 NA NA 1 . CAGCAGCAACAGC . 1166.6 NA NA NA NA NA NA NA NA NA 3074929 OTOP1 133060 . GRCh38 chr4 4226555 4226555 + Missense_Mutation SNP G G T rs200554408 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.310C>A p.Leu104Met p.L104M ENST00000296358 1/6 NA NA NA NA NA NA OTOP1,missense_variant,p.Leu104Met,ENST00000296358,NM_177998.3;,regulatory_region_variant,,ENSR00001078796,;,TF_binding_site_variant,,ENSM00526322475,; T ENSG00000163982 ENST00000296358 Transcript missense_variant 375/1981 310/1839 104/612 L/M Ctg/Atg rs200554408 1 NA -1 OTOP1 HGNC HGNC:19656 protein_coding YES CCDS3372.1 ENSP00000296358 Q7RTM1.105 UPI0000186945 NM_177998.3 deleterious(0.04) benign(0.142) 1/6 PANTHER:PTHR21522,PANTHER:PTHR21522:SF60,Transmembrane_helices:TMhelix,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . AGC . 59.6 2.235e-05 NA NA NA NA NA 5.248e-05 NA NA 4226555 EVC2 132884 . GRCh38 chr4 5622657 5622658 + Frame_Shift_Ins INS - - C rs1235616110 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2380dup p.Glu794GlyfsTer20 p.E794Gfs*20 ENST00000344408 14/22 NA NA NA NA NA NA EVC2,frameshift_variant,p.Glu714GlyfsTer20,ENST00000310917,NM_001166136.1;EVC2,frameshift_variant,p.Glu794GlyfsTer20,ENST00000344408,NM_147127.5;EVC2,frameshift_variant,p.Glu714GlyfsTer20,ENST00000475313,;EVC2,3_prime_UTR_variant,,ENST00000509670,; C ENSG00000173040 ENST00000344408 Transcript frameshift_variant 2426-2427/4382 2380-2381/3927 794/1308 E/GX gag/gGag rs1235616110 1 NA -1 EVC2 HGNC HGNC:19747 protein_coding YES CCDS3382.2 ENSP00000342144 Q86UK5.135 UPI00001910B5 NM_147127.5 14/22 MobiDB_lite:mobidb-lite,PANTHER:PTHR16795:SF14,PANTHER:PTHR16795 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 insertion 1 NA NA 1 . CTC . 2079.64 NA NA NA NA NA NA NA NA NA 5622657 SORCS2 57537 . GRCh38 chr4 7192755 7192757 + In_Frame_Del DEL CTG CTG - rs544508254 NA HCI-EC-23 NORMAL CTG CTG NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.127_129del p.Leu43del p.L43del ENST00000507866 1/27 NA NA NA NA NA NA SORCS2,inframe_deletion,p.Leu43del,ENST00000507866,NM_020777.3;,regulatory_region_variant,,ENSR00000716370,;,regulatory_region_variant,,ENSR00001079107,; - ENSG00000184985 ENST00000507866 Transcript inframe_deletion 218-220/6152 109-111/3480 37/1159 L/- CTG/- rs544508254 1 NA 1 SORCS2 HGNC HGNC:16698 protein_coding YES CCDS47008.1 ENSP00000422185 Q96PQ0.149 UPI0000EE6E4F NM_020777.3 1/27 Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 deletion 1 18 NA NA . TCCTGC . 67.6 NA NA NA NA NA NA NA NA NA 7192754 SORCS2 57537 . GRCh38 chr4 7192781 7192781 + Silent SNP C C A novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.135C>A p.Ala45= p.A45= ENST00000507866 1/27 NA NA NA NA NA NA SORCS2,synonymous_variant,p.Ala45=,ENST00000507866,NM_020777.3;,regulatory_region_variant,,ENSR00000716370,;,regulatory_region_variant,,ENSR00001079107,; A ENSG00000184985 ENST00000507866 Transcript synonymous_variant 244/6152 135/3480 45/1159 A gcC/gcA 1 NA 1 SORCS2 HGNC HGNC:16698 protein_coding YES CCDS47008.1 ENSP00000422185 Q96PQ0.149 UPI0000EE6E4F NM_020777.3 1/27 Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . CCT . 61.6 NA NA NA NA NA NA NA NA NA 7192781 SH3TC1 54436 . GRCh38 chr4 8227514 8227514 + Missense_Mutation SNP T T C novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1820T>C p.Leu607Pro p.L607P ENST00000245105 12/18 NA NA NA NA NA NA SH3TC1,missense_variant,p.Leu607Pro,ENST00000245105,NM_001318480.2,NM_018986.5;SH3TC1,downstream_gene_variant,,ENST00000508641,;SH3TC1,upstream_gene_variant,,ENST00000507801,;SH3TC1,downstream_gene_variant,,ENST00000514274,;SH3TC1,3_prime_UTR_variant,,ENST00000515682,;SH3TC1,3_prime_UTR_variant,,ENST00000502669,;SH3TC1,non_coding_transcript_exon_variant,,ENST00000506360,;SH3TC1,non_coding_transcript_exon_variant,,ENST00000509553,;SH3TC1,upstream_gene_variant,,ENST00000502350,;SH3TC1,upstream_gene_variant,,ENST00000502559,;SH3TC1,upstream_gene_variant,,ENST00000508183,;SH3TC1,downstream_gene_variant,,ENST00000508438,;SH3TC1,upstream_gene_variant,,ENST00000511002,;SH3TC1,upstream_gene_variant,,ENST00000513495,; C ENSG00000125089 ENST00000245105 Transcript missense_variant 1964/4303 1820/4011 607/1336 L/P cTg/cCg 1 NA 1 SH3TC1 HGNC HGNC:26009 protein_coding YES CCDS3399.1 ENSP00000245105 Q8TE82.138 UPI000013CB93 NM_001318480.2,NM_018986.5 deleterious(0) probably_damaging(0.999) 12/18 Gene3D:1.25.40.10,PANTHER:PTHR22647,PANTHER:PTHR22647:SF3,SMART:SM00028,Superfamily:SSF48452 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 2 NA NA NA . CTG . 5808.6 NA NA NA NA NA NA NA NA NA 8227514 USP17L17 100287327 . GRCh38 chr4 9245112 9245112 + Missense_Mutation SNP C C T rs796976574 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1234C>T p.His412Tyr p.H412Y ENST00000511568 1/1 NA NA NA NA NA NA USP17L17,missense_variant,p.His412Tyr,ENST00000511568,NM_001256857.1;USP17L18,upstream_gene_variant,,ENST00000504209,NM_001256859.1;AC108519.1,intron_variant,,ENST00000658713,;AC108519.1,intron_variant,,ENST00000666840,;USP17L16P,downstream_gene_variant,,ENST00000507155,; T ENSG00000249104 ENST00000511568 Transcript missense_variant 1234/1593 1234/1593 412/530 H/Y Cac/Tac rs796976574,COSV72435029 1 NA 1 USP17L17 HGNC HGNC:44445 protein_coding YES CCDS59458.1 ENSP00000422621 D6RBQ6.76 UPI0000160391 NM_001256857.1 tolerated(1) possibly_damaging(0.581) 1/1 PANTHER:PTHR24006,PANTHER:PTHR24006:SF651 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV NA NA 0,1 NA NA . CCA . 129.6 NA NA NA NA NA NA NA NA NA 9245112 ZNF518B 85460 . GRCh38 chr4 10444134 10444134 + Missense_Mutation SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2195G>A p.Gly732Asp p.G732D ENST00000326756 3/3 NA NA NA NA NA NA ZNF518B,missense_variant,p.Gly732Asp,ENST00000326756,NM_001375817.1,NM_053042.3,NM_001375816.1;ZNF518B,downstream_gene_variant,,ENST00000507515,; T ENSG00000178163 ENST00000326756 Transcript missense_variant 2700/6954 2195/3225 732/1074 G/D gGt/gAt 1 NA -1 ZNF518B HGNC HGNC:29365 protein_coding YES CCDS33960.1 ENSP00000317614 Q9C0D4.128 UPI0000160B97 NM_001375817.1,NM_053042.3,NM_001375816.1 tolerated(0.16) benign(0) 3/3 PANTHER:PTHR24403,PANTHER:PTHR24403:SF57 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 3 NA NA NA . ACC . 4175.6 NA NA NA NA NA NA NA NA NA 10444134 CLRN2 645104 . GRCh38 chr4 17522917 17522917 + Silent SNP C C T NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.307C>T p.Leu103= p.L103= ENST00000511148 2/3 NA NA NA NA NA NA CLRN2,synonymous_variant,p.Leu103=,ENST00000511148,NM_001079827.2; T ENSG00000249581 ENST00000511148 Transcript synonymous_variant 409/823 307/699 103/232 L Ctg/Ttg COSV72512536 1 NA 1 CLRN2 HGNC HGNC:33939 protein_coding YES CCDS47032.1 ENSP00000424711 A0PK11.83 UPI0000D6154A NM_001079827.2 2/3 Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PANTHER:PTHR31548:SF5,PANTHER:PTHR31548,Gene3D:1.20.140.150 NA NA NA NA NA NA NA NA NA 1 NA NA NA NA LOW 1 SNV 1 NA 1 NA NA . GCT . 413.6 NA NA NA NA NA NA NA NA NA 17522917 PPARGC1A 10891 . GRCh38 chr4 23884773 23884773 + Missense_Mutation SNP A A T novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.213T>A p.Asn71Lys p.N71K ENST00000264867 2/13 NA NA NA NA NA NA PPARGC1A,missense_variant,p.Asn71Lys,ENST00000264867,NM_001354827.2,NM_001354825.2,NM_001330752.2,NM_001330751.2,NM_013261.5;PPARGC1A,missense_variant,p.Asn71Lys,ENST00000507380,NM_001354828.2;PPARGC1A,missense_variant,p.Asn67Lys,ENST00000617484,;PPARGC1A,missense_variant,p.Asn67Lys,ENST00000612355,;PPARGC1A,upstream_gene_variant,,ENST00000613098,NM_001354826.2,NM_001330753.1;PPARGC1A,non_coding_transcript_exon_variant,,ENST00000515534,;PPARGC1A,non_coding_transcript_exon_variant,,ENST00000503714,;PPARGC1A,non_coding_transcript_exon_variant,,ENST00000507342,;PPARGC1A,upstream_gene_variant,,ENST00000508380,;PPARGC1A,upstream_gene_variant,,ENST00000509642,;PPARGC1A,upstream_gene_variant,,ENST00000509702,;PPARGC1A,upstream_gene_variant,,ENST00000512169,;PPARGC1A,upstream_gene_variant,,ENST00000514517,;PPARGC1A,missense_variant,p.Asn71Lys,ENST00000506055,;PPARGC1A,missense_variant,p.Asn71Lys,ENST00000513205,;PPARGC1A,non_coding_transcript_exon_variant,,ENST00000514494,;PPARGC1A,upstream_gene_variant,,ENST00000505469,; T ENSG00000109819 ENST00000264867 Transcript missense_variant 303/6288 213/2397 71/798 N/K aaT/aaA 1 NA -1 PPARGC1A HGNC HGNC:9237 protein_coding YES CCDS3429.1 ENSP00000264867 Q9UBK2.189 A0A024R9Q9.44 UPI000004D072 NM_001354827.2,NM_001354825.2,NM_001330752.2,NM_001330751.2,NM_013261.5 deleterious(0.05) benign(0.321) 2/13 PANTHER:PTHR15528:SF10,PANTHER:PTHR15528 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . CAT . 2822.6 NA NA NA NA NA NA NA NA NA 23884773 ARAP2 116984 . GRCh38 chr4 36107569 36107569 + Silent SNP G G A rs1264109981 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4281C>T p.Cys1427= p.C1427= ENST00000303965 27/33 NA NA NA NA NA NA ARAP2,synonymous_variant,p.Cys1427=,ENST00000303965,NM_015230.4;ARAP2,synonymous_variant,p.Cys686=,ENST00000618163,; A ENSG00000047365 ENST00000303965 Transcript synonymous_variant 4776/7513 4281/5115 1427/1704 C tgC/tgT rs1264109981 1 NA -1 ARAP2 HGNC HGNC:16924 protein_coding YES CCDS3441.1 ENSP00000302895 Q8WZ64.168 UPI000013E917 NM_015230.4 27/33 Gene3D:2.30.29.30,PANTHER:PTHR45899,PANTHER:PTHR45899:SF1,CDD:cd13259 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . TGC . 1021.6 4.052e-06 NA NA NA NA 4.648e-05 NA NA NA 36107569 FAM114A1 92689 . GRCh38 chr4 38891748 38891748 + Silent SNP G G T novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.354G>T p.Val118= p.V118= ENST00000358869 4/15 NA NA NA NA NA NA FAM114A1,synonymous_variant,p.Val118=,ENST00000358869,NM_138389.4,NM_001375792.1,NM_001375793.1,NM_001350632.2,NM_001350633.2;FAM114A1,synonymous_variant,p.Val118=,ENST00000510213,;FAM114A1,5_prime_UTR_variant,,ENST00000515037,NM_001330764.2,NM_001350634.2,NM_001350631.2; T ENSG00000197712 ENST00000358869 Transcript synonymous_variant 540/4060 354/1692 118/563 V gtG/gtT 1 NA 1 FAM114A1 HGNC HGNC:25087 protein_coding YES CCDS3447.1 ENSP00000351740 Q8IWE2.116 A1MMZ0.3 UPI00001DFE17 NM_138389.4,NM_001375792.1,NM_001375793.1,NM_001350632.2,NM_001350633.2 4/15 PANTHER:PTHR12842:SF4,PANTHER:PTHR12842 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . TGG . 755.6 NA NA NA NA NA NA NA NA NA 38891748 UBE2K 3093 . GRCh38 chr4 39745753 39745753 + Splice_Region SNP A A T novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.159A>T p.Gly53= p.G53= ENST00000261427 3/7 NA NA NA NA NA NA UBE2K,splice_region_variant,p.Gly53=,ENST00000261427,NM_005339.5,NM_001312647.2;UBE2K,splice_region_variant,p.Gly53=,ENST00000445950,NM_001111112.2;UBE2K,splice_region_variant,p.Gly53=,ENST00000510934,NM_001312646.2;UBE2K,intron_variant,,ENST00000503368,NM_001312648.2,NM_001111113.2;UBE2K,splice_region_variant,,ENST00000438068,;UBE2K,splice_region_variant,,ENST00000513231,;UBE2K,intron_variant,,ENST00000510719,; T ENSG00000078140 ENST00000261427 Transcript splice_region_variant,synonymous_variant 351/5153 159/603 53/200 G ggA/ggT 1 NA 1 UBE2K HGNC HGNC:4914 protein_coding YES CCDS33976.1 ENSP00000261427 P61086.176 UPI0000003FF1 NM_005339.5,NM_001312647.2 3/7 PDB-ENSP_mappings:1yla.A,PDB-ENSP_mappings:1yla.B,PDB-ENSP_mappings:2o25.A,PDB-ENSP_mappings:2o25.B,PDB-ENSP_mappings:3e46.A,PDB-ENSP_mappings:3f92.A,PDB-ENSP_mappings:3k9o.A,PDB-ENSP_mappings:3k9p.A,PDB-ENSP_mappings:5dfl.A,PDB-ENSP_mappings:6if1.A,PDB-ENSP_mappings:6if1.B,PDB-ENSP_mappings:6jb6.A,PDB-ENSP_mappings:6jb7.A,PROSITE_profiles:PS50127,CDD:cd00195,PANTHER:PTHR24068,PANTHER:PTHR24068:SF147,Pfam:PF00179,Gene3D:3.10.110.10,SMART:SM00212,Superfamily:SSF54495 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . GAG . 97.6 NA NA NA NA NA NA NA NA NA 39745753 UBE2K 3093 . GRCh38 chr4 39745762 39745762 + Silent SNP C C T rs770044900 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.168C>T p.Tyr56= p.Y56= ENST00000261427 3/7 NA NA NA NA NA NA UBE2K,synonymous_variant,p.Tyr56=,ENST00000261427,NM_005339.5,NM_001312647.2;UBE2K,synonymous_variant,p.Tyr56=,ENST00000445950,NM_001111112.2;UBE2K,synonymous_variant,p.Tyr56=,ENST00000510934,NM_001312646.2;UBE2K,intron_variant,,ENST00000503368,NM_001312648.2,NM_001111113.2;UBE2K,non_coding_transcript_exon_variant,,ENST00000438068,;UBE2K,non_coding_transcript_exon_variant,,ENST00000513231,;UBE2K,intron_variant,,ENST00000510719,; T ENSG00000078140 ENST00000261427 Transcript synonymous_variant 360/5153 168/603 56/200 Y taC/taT rs770044900 1 NA 1 UBE2K HGNC HGNC:4914 protein_coding YES CCDS33976.1 ENSP00000261427 P61086.176 UPI0000003FF1 NM_005339.5,NM_001312647.2 3/7 PDB-ENSP_mappings:1yla.A,PDB-ENSP_mappings:1yla.B,PDB-ENSP_mappings:2o25.A,PDB-ENSP_mappings:2o25.B,PDB-ENSP_mappings:3e46.A,PDB-ENSP_mappings:3f92.A,PDB-ENSP_mappings:3k9o.A,PDB-ENSP_mappings:3k9p.A,PDB-ENSP_mappings:5dfl.A,PDB-ENSP_mappings:6if1.A,PDB-ENSP_mappings:6if1.B,PDB-ENSP_mappings:6jb6.A,PDB-ENSP_mappings:6jb7.A,PROSITE_profiles:PS50127,CDD:cd00195,PANTHER:PTHR24068,PANTHER:PTHR24068:SF147,Pfam:PF00179,Gene3D:3.10.110.10,SMART:SM00212,Superfamily:SSF54495 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . ACC . 91.6 4.047e-06 NA NA NA NA NA NA NA 3.418e-05 39745762 UBE2K 3093 . GRCh38 chr4 39745792 39745792 + Silent SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.198C>T p.Tyr66= p.Y66= ENST00000261427 3/7 NA NA NA NA NA NA UBE2K,synonymous_variant,p.Tyr66=,ENST00000261427,NM_005339.5,NM_001312647.2;UBE2K,synonymous_variant,p.Tyr66=,ENST00000445950,NM_001111112.2;UBE2K,synonymous_variant,p.Tyr66=,ENST00000510934,NM_001312646.2;UBE2K,intron_variant,,ENST00000503368,NM_001312648.2,NM_001111113.2;UBE2K,non_coding_transcript_exon_variant,,ENST00000438068,;UBE2K,non_coding_transcript_exon_variant,,ENST00000513231,;UBE2K,intron_variant,,ENST00000510719,; T ENSG00000078140 ENST00000261427 Transcript synonymous_variant 390/5153 198/603 66/200 Y taC/taT 1 NA 1 UBE2K HGNC HGNC:4914 protein_coding YES CCDS33976.1 ENSP00000261427 P61086.176 UPI0000003FF1 NM_005339.5,NM_001312647.2 3/7 PDB-ENSP_mappings:1yla.A,PDB-ENSP_mappings:1yla.B,PDB-ENSP_mappings:2o25.A,PDB-ENSP_mappings:2o25.B,PDB-ENSP_mappings:3e46.A,PDB-ENSP_mappings:3f92.A,PDB-ENSP_mappings:3k9o.A,PDB-ENSP_mappings:3k9p.A,PDB-ENSP_mappings:5dfl.A,PDB-ENSP_mappings:6if1.A,PDB-ENSP_mappings:6if1.B,PDB-ENSP_mappings:6jb6.A,PDB-ENSP_mappings:6jb7.A,PROSITE_profiles:PS50127,CDD:cd00195,PANTHER:PTHR24068,PANTHER:PTHR24068:SF147,Pfam:PF00179,Gene3D:3.10.110.10,SMART:SM00212,Superfamily:SSF54495 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . ACC . 273.6 NA NA NA NA NA NA NA NA NA 39745792 UBE2K 3093 . GRCh38 chr4 39745801 39745801 + Silent SNP T T C novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.207T>C p.Asn69= p.N69= ENST00000261427 3/7 NA NA NA NA NA NA UBE2K,synonymous_variant,p.Asn69=,ENST00000261427,NM_005339.5,NM_001312647.2;UBE2K,synonymous_variant,p.Asn69=,ENST00000445950,NM_001111112.2;UBE2K,synonymous_variant,p.Asn69=,ENST00000510934,NM_001312646.2;UBE2K,intron_variant,,ENST00000503368,NM_001312648.2,NM_001111113.2;UBE2K,non_coding_transcript_exon_variant,,ENST00000438068,;UBE2K,non_coding_transcript_exon_variant,,ENST00000513231,;UBE2K,intron_variant,,ENST00000510719,; C ENSG00000078140 ENST00000261427 Transcript synonymous_variant 399/5153 207/603 69/200 N aaT/aaC 1 NA 1 UBE2K HGNC HGNC:4914 protein_coding YES CCDS33976.1 ENSP00000261427 P61086.176 UPI0000003FF1 NM_005339.5,NM_001312647.2 3/7 PDB-ENSP_mappings:1yla.A,PDB-ENSP_mappings:1yla.B,PDB-ENSP_mappings:2o25.A,PDB-ENSP_mappings:2o25.B,PDB-ENSP_mappings:3e46.A,PDB-ENSP_mappings:3f92.A,PDB-ENSP_mappings:3k9o.A,PDB-ENSP_mappings:3k9p.A,PDB-ENSP_mappings:5dfl.A,PDB-ENSP_mappings:6if1.A,PDB-ENSP_mappings:6if1.B,PDB-ENSP_mappings:6jb6.A,PDB-ENSP_mappings:6jb7.A,PROSITE_profiles:PS50127,CDD:cd00195,PANTHER:PTHR24068,PANTHER:PTHR24068:SF147,Pfam:PF00179,Gene3D:3.10.110.10,SMART:SM00212,Superfamily:SSF54495 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . ATC . 273.6 NA NA NA NA NA NA NA NA NA 39745801 N4BP2 55728 . GRCh38 chr4 40120547 40120547 + Silent SNP C C T rs753329630 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2436C>T p.Ser812= p.S812= ENST00000261435 9/18 NA NA NA NA NA NA N4BP2,synonymous_variant,p.Ser812=,ENST00000261435,NM_001318359.2,NM_018177.6;N4BP2,synonymous_variant,p.Ser459=,ENST00000513269,;N4BP2,3_prime_UTR_variant,,ENST00000511480,;,regulatory_region_variant,,ENSR00000722046,; T ENSG00000078177 ENST00000261435 Transcript synonymous_variant 2828/9720 2436/5313 812/1770 S tcC/tcT rs753329630 1 NA 1 N4BP2 HGNC HGNC:29851 protein_coding YES CCDS3457.1 ENSP00000261435 Q86UW6.158 UPI00001A962C NM_001318359.2,NM_018177.6 9/18 PANTHER:PTHR46535,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA 1 . CCG . 1831.6 1.998e-05 NA NA NA 0.0001633 NA 8.852e-06 0.000164 NA 40120547 N4BP2 55728 . GRCh38 chr4 40142829 40142829 + Frame_Shift_Del DEL A A - rs763929397 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4949del p.Asn1650MetfsTer17 p.N1650Mfs*17 ENST00000261435 15/18 NA NA NA NA NA NA N4BP2,frameshift_variant,p.Asn1650MetfsTer17,ENST00000261435,NM_001318359.2,NM_018177.6;N4BP2,frameshift_variant,p.Asn1280MetfsTer17,ENST00000513269,;N4BP2,3_prime_UTR_variant,,ENST00000511480,;AC095057.1,upstream_gene_variant,,ENST00000507583,; - ENSG00000078177 ENST00000261435 Transcript frameshift_variant 5334/9720 4942/5313 1648/1770 K/X Aaa/aa rs763929397 1 NA 1 N4BP2 HGNC HGNC:29851 protein_coding YES CCDS3457.1 ENSP00000261435 Q86UW6.158 UPI00001A962C NM_001318359.2,NM_018177.6 15/18 Pfam:PF08590,PANTHER:PTHR46535,SMART:SM01162 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 5 7 NA 1 . GGAA . 662.6 1.609e-05 NA 2.969e-05 NA NA NA 8.859e-06 NA 6.631e-05 40142828 ATP10D 57205 . GRCh38 chr4 47536776 47536777 + Frame_Shift_Ins INS - - A rs1440513677 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1240dup p.Met414AsnfsTer26 p.M414Nfs*26 ENST00000273859 9/23 NA NA NA NA NA NA ATP10D,frameshift_variant,p.Met414AsnfsTer26,ENST00000273859,NM_020453.4;ATP10D,frameshift_variant,p.Met399AsnfsTer26,ENST00000504445,;ATP10D,frameshift_variant,p.Met62AsnfsTer26,ENST00000503288,; A ENSG00000145246 ENST00000273859 Transcript frameshift_variant 1516-1517/6668 1234-1235/4281 412/1426 E/EX gaa/gAaa rs1440513677 1 NA 1 ATP10D HGNC HGNC:13549 protein_coding YES CCDS3476.1 ENSP00000273859 Q9P241.175 UPI00001AE9B7 NM_020453.4 9/23 CDD:cd02073,PANTHER:PTHR24092:SF84,PANTHER:PTHR24092,TIGRFAM:TIGR01652,Superfamily:SSF81665 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 insertion 1 6 NA NA . TGA . 3605.64 NA NA NA NA NA NA NA NA NA 47536776 CRACD 57482 . GRCh38 chr4 56314410 56314411 + In_Frame_Ins INS - - GGAGCGGAGGGAGCGGAG rs11276076 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.923_924insGAGGGAGCGGAGGGAGCG p.Arg308_Glu309insArgGluArgArgGluArg p.R308_E309insRERRER ENST00000264229 8/11 NA NA NA NA NA NA CRACD,inframe_insertion,p.Arg308_Glu309insArgGluArgArgGluArg,ENST00000264229,NM_020722.1;CRACD,inframe_insertion,p.Arg308_Glu309insArgGluArgArgGluArg,ENST00000504228,;CRACD,inframe_insertion,p.Arg301_Glu302insArgGluArgArgGluArg,ENST00000541073,;CRACD,inframe_insertion,p.Arg393_Glu394insArgGluArgArgGluArg,ENST00000646253,;CRACD,inframe_insertion,p.Arg308_Glu309insArgGluArgArgGluArg,ENST00000636006,;CRACD,upstream_gene_variant,,ENST00000514330,;CRACD,downstream_gene_variant,,ENST00000505410,; GGAGCGGAGGGAGCGGAG ENSG00000109265 ENST00000264229 Transcript inframe_insertion 1299-1300/4914 908-909/3702 303/1233 A/AERRERR gcg/gcGGAGCGGAGGGAGCGGAGg rs11276076 1 NA 1 CRACD HGNC HGNC:29219 protein_coding YES CCDS43230.1 ENSP00000264229 Q6ZU35.121 UPI0000237309 NM_020722.1 8/11 Coiled-coils_(Ncoils):Coil,PANTHER:PTHR47574,PANTHER:PTHR47574:SF3,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA 0.2716 0.2781 NA 0.0694 0.4076 0.3252 0.281 0.3169 NA NA NA NA MODERATE 1 insertion 2 15 NA NA . GCG . 1484.64 NA NA NA NA NA NA NA NA NA 56314410 CRACD 57482 . GRCh38 chr4 56315560 56315560 + Silent SNP C C T rs768705327 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2058C>T p.Ser686= p.S686= ENST00000264229 8/11 NA NA NA NA NA NA CRACD,synonymous_variant,p.Ser686=,ENST00000264229,NM_020722.1;CRACD,synonymous_variant,p.Ser686=,ENST00000504228,;CRACD,synonymous_variant,p.Ser679=,ENST00000541073,;CRACD,upstream_gene_variant,,ENST00000514330,;CRACD,downstream_gene_variant,,ENST00000636006,;CRACD,downstream_gene_variant,,ENST00000646253,;CRACD,downstream_gene_variant,,ENST00000505410,; T ENSG00000109265 ENST00000264229 Transcript synonymous_variant 2449/4914 2058/3702 686/1233 S agC/agT rs768705327,COSV51732358 1 NA 1 CRACD HGNC HGNC:29219 protein_coding YES CCDS43230.1 ENSP00000264229 Q6ZU35.121 UPI0000237309 NM_020722.1 8/11 PANTHER:PTHR47574,PANTHER:PTHR47574:SF3,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA LOW 1 SNV 2 NA 0,1 NA NA . GCG . 4697.6 4.021e-06 NA NA NA NA 4.638e-05 NA NA NA 56315560 POLR2B 5431 . GRCh38 chr4 57005430 57005430 + Missense_Mutation SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1085C>T p.Ala362Val p.A362V ENST00000381227 9/26 NA NA NA NA NA NA POLR2B,missense_variant,p.Ala362Val,ENST00000381227,;POLR2B,missense_variant,p.Ala355Val,ENST00000441246,NM_001303269.1,NM_001303268.1;POLR2B,missense_variant,p.Ala362Val,ENST00000314595,NM_000938.3;POLR2B,missense_variant,p.Ala255Val,ENST00000431623,;RNU6-998P,downstream_gene_variant,,ENST00000515894,;POLR2B,upstream_gene_variant,,ENST00000510355,;POLR2B,upstream_gene_variant,,ENST00000478188,; T ENSG00000047315 ENST00000381227 Transcript missense_variant 1498/4108 1085/3525 362/1174 A/V gCc/gTc 1 NA 1 POLR2B HGNC HGNC:9188 protein_coding YES CCDS3511.1 ENSP00000370625 P30876.203 UPI00001345D1 deleterious(0.02) probably_damaging(1) 9/26 PDB-ENSP_mappings:5iy6.B,PDB-ENSP_mappings:5iy7.B,PDB-ENSP_mappings:5iy8.B,PDB-ENSP_mappings:5iy9.B,PDB-ENSP_mappings:5iya.B,PDB-ENSP_mappings:5iyb.B,PDB-ENSP_mappings:5iyc.B,PDB-ENSP_mappings:5iyd.B,PDB-ENSP_mappings:6drd.B,PDB-ENSP_mappings:6o9l.B,CDD:cd00653,PANTHER:PTHR20856,PANTHER:PTHR20856:SF7,Gene3D:3.90.1110.10,Pfam:PF04561,Pfam:PF04563,Superfamily:SSF64484 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . GCC . 1577.6 NA NA NA NA NA NA NA NA NA 57005430 STAP1 26228 . GRCh38 chr4 67583607 67583607 + Silent SNP T T C rs1413290020 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.564T>C p.Thr188= p.T188= ENST00000265404 6/9 NA NA NA NA NA NA STAP1,synonymous_variant,p.Thr188=,ENST00000265404,NM_012108.4;STAP1,synonymous_variant,p.Thr188=,ENST00000396225,NM_001317769.2; C ENSG00000035720 ENST00000265404 Transcript synonymous_variant 647/1951 564/888 188/295 T acT/acC rs1413290020,COSV55328513 1 NA 1 STAP1 HGNC HGNC:24133 protein_coding YES CCDS3515.1 ENSP00000265404 Q9ULZ2.155 A0A024RD91.45 UPI0000073E6C NM_012108.4 6/9 Gene3D:3.30.505.10,PDB-ENSP_mappings:3maz.A,Pfam:PF00017,PROSITE_profiles:PS50001,PANTHER:PTHR16186,PANTHER:PTHR16186:SF10,SMART:SM00252,Superfamily:SSF55550,CDD:cd10403 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA LOW 1 SNV 1 NA 0,1 NA 1 . CTG . 1487.6 NA NA NA NA NA NA NA NA NA 67583607 TMPRSS11D 9407 . GRCh38 chr4 67854086 67854086 + Silent SNP A A G novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.231T>C p.Ser77= p.S77= ENST00000283916 3/10 NA NA NA NA NA NA TMPRSS11D,synonymous_variant,p.Ser77=,ENST00000283916,NM_004262.3;UBA6-AS1,intron_variant,,ENST00000500538,;UBA6-AS1,intron_variant,,ENST00000663060,;UBA6-AS1,intron_variant,,ENST00000667140,;TMPRSS11D,non_coding_transcript_exon_variant,,ENST00000509584,;TMPRSS11D,non_coding_transcript_exon_variant,,ENST00000502573,;TMPRSS11D,non_coding_transcript_exon_variant,,ENST00000508409,;TMPRSS11D,non_coding_transcript_exon_variant,,ENST00000511931,;TMPRSS11D,non_coding_transcript_exon_variant,,ENST00000502822,; G ENSG00000153802 ENST00000283916 Transcript synonymous_variant 300/2787 231/1257 77/418 S agT/agC 1 NA -1 TMPRSS11D HGNC HGNC:24059 protein_coding YES CCDS3518.1 ENSP00000283916 O60235.164 UPI000003FE66 NM_004262.3 3/10 PIRSF:PIRSF037941,Gene3D:3.30.70.960,Pfam:PF01390,SMART:SM00200,Superfamily:SSF82671,PROSITE_profiles:PS50024,PANTHER:PTHR24253,PANTHER:PTHR24253:SF45 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . CAC . 567.6 NA NA NA NA NA NA NA NA NA 67854086 TMPRSS11F 389208 . GRCh38 chr4 68064889 68064889 + Missense_Mutation SNP C C T rs750121063 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.811G>A p.Ala271Thr p.A271T ENST00000356291 8/10 NA NA NA NA NA NA TMPRSS11F,missense_variant,p.Ala271Thr,ENST00000356291,NM_207407.2;UBA6-AS1,intron_variant,,ENST00000499180,;UBA6-AS1,intron_variant,,ENST00000500538,;UBA6-AS1,intron_variant,,ENST00000511571,;UBA6-AS1,intron_variant,,ENST00000663060,;UBA6-AS1,intron_variant,,ENST00000667140,;SYT14P1,upstream_gene_variant,,ENST00000600441,;SYT14P1,upstream_gene_variant,,ENST00000481459,; T ENSG00000198092 ENST00000356291 Transcript missense_variant 860/2077 811/1317 271/438 A/T Gca/Aca rs750121063,COSV62465801 1 NA -1 TMPRSS11F HGNC HGNC:29994 protein_coding YES CCDS3520.1 ENSP00000348639 Q6ZWK6.133 UPI0000251DE7 NM_207407.2 tolerated(0.18) benign(0.255) 8/10 CDD:cd00190,Gene3D:2.40.10.10,PIRSF:PIRSF037941,Pfam:PF00089,Gene3D:2.40.10.10,SMART:SM00020,Superfamily:SSF50494,PROSITE_profiles:PS50240,PANTHER:PTHR24253,PANTHER:PTHR24253:SF65 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 2 NA 0,1 NA NA . GCG . 3023.6 5.976e-05 0.0002464 NA NA NA NA 1.763e-05 NA 0.0002943 68064889 TMPRSS11E 28983 . GRCh38 chr4 68477521 68477521 + Missense_Mutation SNP T T A novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.860T>A p.Val287Asp p.V287D ENST00000305363 8/10 NA NA NA NA NA NA TMPRSS11E,missense_variant,p.Val287Asp,ENST00000305363,NM_014058.4;TMPRSS11E,3_prime_UTR_variant,,ENST00000510647,; A ENSG00000087128 ENST00000305363 Transcript missense_variant 910/2122 860/1272 287/423 V/D gTt/gAt 1 NA 1 TMPRSS11E HGNC HGNC:24465 protein_coding YES CCDS33993.1 ENSP00000307519 Q9UL52.159 UPI00000389F7 NM_014058.4 deleterious(0) probably_damaging(0.999) 8/10 PDB-ENSP_mappings:2oq5.A,CDD:cd00190,Gene3D:2.40.10.10,Pfam:PF00089,Gene3D:2.40.10.10,PIRSF:PIRSF037941,SMART:SM00020,Superfamily:SSF50494,PROSITE_profiles:PS50240,PANTHER:PTHR24253:SF84,PANTHER:PTHR24253,Prints:PR00722 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . GTT . 3253.6 NA NA NA NA NA NA NA NA NA 68477521 UGT2A3 79799 . GRCh38 chr4 68951419 68951419 + Frame_Shift_Del DEL A A - rs763425928 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.342del p.Phe114LeufsTer4 p.F114Lfs*4 ENST00000251566 1/6 NA NA NA NA NA NA UGT2A3,frameshift_variant,p.Phe114LeufsTer4,ENST00000251566,NM_024743.4;UGT2A3,upstream_gene_variant,,ENST00000503012,;,regulatory_region_variant,,ENSR00000725937,; - ENSG00000135220 ENST00000251566 Transcript frameshift_variant 386/2978 342/1584 114/527 F/X ttT/tt rs763425928 1 NA -1 UGT2A3 HGNC HGNC:28528 protein_coding YES CCDS3525.1 ENSP00000251566 Q6UWM9.129 UPI000004E644 NM_024743.4 1/6 CDD:cd03784,Pfam:PF00201,Gene3D:3.40.50.2000,Superfamily:SSF53756 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 NA NA NA . ACAA . 1433.6 8.119e-06 NA NA NA NA NA 1.797e-05 NA NA 68951418 ODAM 54959 . GRCh38 chr4 70201463 70201463 + Missense_Mutation SNP T T C rs748580771 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.538T>C p.Tyr180His p.Y180H ENST00000396094 7/11 NA NA NA NA NA NA ODAM,missense_variant,p.Tyr180His,ENST00000396094,NM_017855.3;ODAM,missense_variant,p.Tyr166His,ENST00000510709,;ODAM,intron_variant,,ENST00000514097,;ODAM,3_prime_UTR_variant,,ENST00000510847,;ODAM,downstream_gene_variant,,ENST00000506248,; C ENSG00000109205 ENST00000396094 Transcript missense_variant 586/1319 538/840 180/279 Y/H Tat/Cat rs748580771 1 NA 1 ODAM HGNC HGNC:26043 protein_coding YES CCDS3536.2 ENSP00000379401 A1E959.101 UPI0000413A02 NM_017855.3 deleterious(0) probably_damaging(0.967) 7/11 PANTHER:PTHR16237,Pfam:PF15424 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . CTA . 523.6 4.199e-06 NA NA NA NA 4.703e-05 NA NA NA 70201463 COX18 285521 . GRCh38 chr4 73061902 73061902 + Frame_Shift_Del DEL T T - rs866638264 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.742del p.Ile248LeufsTer20 p.I248Lfs*20 ENST00000507544 5/6 NA NA NA NA NA NA COX18,frameshift_variant,p.Ile247LeufsTer20,ENST00000295890,NM_173827.4,NM_001297733.2,NM_001300729.1;COX18,frameshift_variant,p.Ile248LeufsTer20,ENST00000507544,NM_001297732.2;COX18,3_prime_UTR_variant,,ENST00000449739,;COX18,3_prime_UTR_variant,,ENST00000510031,; - ENSG00000163626 ENST00000507544 Transcript frameshift_variant 809/6824 742/1005 248/334 I/X Att/tt rs866638264 1 NA -1 COX18 HGNC HGNC:26801 protein_coding YES CCDS75139.1 ENSP00000425261 B7ZL88.87 UPI00004918BB NM_001297732.2 5/6 PANTHER:PTHR12428,PANTHER:PTHR12428:SF34,Pfam:PF02096 NA NA NA NA NA NA NA 0.0002344 NA NA NA NA NA HIGH 1 deletion 1 NA NA NA . AATT . 1563.6 3.995e-06 NA NA NA NA NA NA 0.0001633 NA 73061901 USO1 8615 . GRCh38 chr4 75771130 75771130 + Missense_Mutation SNP G G A rs866967051 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.560G>A p.Arg187His p.R187H ENST00000264904 8/26 NA NA NA NA NA NA USO1,missense_variant,p.Arg187His,ENST00000264904,NM_001290049.1;USO1,missense_variant,p.Arg183His,ENST00000514213,NM_003715.4;USO1,non_coding_transcript_exon_variant,,ENST00000512893,; A ENSG00000138768 ENST00000264904 Transcript missense_variant 782/4135 560/2922 187/973 R/H cGt/cAt rs866967051,COSV53705088 1 NA 1 USO1 HGNC HGNC:30904 protein_coding YES CCDS77929.1 ENSP00000264904 O60763.175 UPI0001D1479E NM_001290049.1 deleterious(0) probably_damaging(0.994) 8/26 Gene3D:1.25.10.10,PANTHER:PTHR10013,PANTHER:PTHR10013:SF0,SMART:SM00185,Superfamily:SSF48371 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 2 NA 0,1 NA NA . CGT . 966.6 NA NA NA NA NA NA NA NA NA 75771130 FRAS1 80144 . GRCh38 chr4 78499815 78499815 + Silent SNP A A G novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.9210A>G p.Arg3070= p.R3070= ENST00000512123 61/74 NA NA NA NA NA NA FRAS1,synonymous_variant,p.Arg3070=,ENST00000512123,NM_025074.7; G ENSG00000138759 ENST00000512123 Transcript synonymous_variant 9897/15871 9210/12039 3070/4012 R agA/agG 1 NA 1 FRAS1 HGNC HGNC:19185 protein_coding YES CCDS54771.1 ENSP00000422834 Q86XX4.163 UPI000021D4C2 NM_025074.7 61/74 Gene3D:2.60.40.2030,Pfam:PF03160,PANTHER:PTHR45739,PANTHER:PTHR45739:SF1,SMART:SM00237,Superfamily:SSF141072 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA 1 . GAG . 1886.6 NA NA NA NA NA NA NA NA NA 78499815 SEC31A 22872 . GRCh38 chr4 82864412 82864412 + Frame_Shift_Del DEL T T - rs748463349 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1384del p.Ile462LeufsTer16 p.I462Lfs*16 ENST00000505472 10/27 NA NA NA NA NA NA SEC31A,frameshift_variant,p.Ile462LeufsTer16,ENST00000395310,NM_001077207.4;SEC31A,frameshift_variant,p.Ile462LeufsTer16,ENST00000448323,;SEC31A,frameshift_variant,p.Ile462LeufsTer16,ENST00000505472,;SEC31A,frameshift_variant,p.Ile462LeufsTer16,ENST00000355196,NM_001318120.1;SEC31A,frameshift_variant,p.Ile457LeufsTer16,ENST00000443462,NM_001191049.2;SEC31A,frameshift_variant,p.Ile462LeufsTer16,ENST00000348405,NM_016211.4;SEC31A,frameshift_variant,p.Ile462LeufsTer16,ENST00000311785,NM_001077206.3;SEC31A,frameshift_variant,p.Ile462LeufsTer16,ENST00000509142,;SEC31A,frameshift_variant,p.Ile462LeufsTer16,ENST00000508502,NM_001318119.1,NM_001077208.3;SEC31A,frameshift_variant,p.Ile462LeufsTer16,ENST00000513858,NM_001300744.2;SEC31A,frameshift_variant,p.Ile462LeufsTer16,ENST00000500777,;SEC31A,frameshift_variant,p.Ile462LeufsTer16,ENST00000505984,NM_001300745.2;SEC31A,frameshift_variant,p.Ile234LeufsTer16,ENST00000264405,;SEC31A,frameshift_variant,p.Ile462LeufsTer16,ENST00000508479,;SEC31A,frameshift_variant,p.Ile105LeufsTer16,ENST00000507828,;SEC31A,frameshift_variant,p.Ile63LeufsTer16,ENST00000510167,;SEC31A,frameshift_variant,p.Ile16LeufsTer16,ENST00000512664,;SEC31A,non_coding_transcript_exon_variant,,ENST00000436790,;SEC31A,upstream_gene_variant,,ENST00000512732,;,regulatory_region_variant,,ENSR00000728465,; - ENSG00000138674 ENST00000505472 Transcript frameshift_variant 1385/4159 1384/3756 462/1251 I/X Att/tt rs748463349,COSV52348607 1 NA -1 SEC31A HGNC HGNC:17052 protein_coding YES ENSP00000421633 D6REX3.81 UPI0001D3B546 10/27 Gene3D:1.25.40.1030,PANTHER:PTHR13923,PANTHER:PTHR13923:SF23 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA HIGH 1 deletion 5 NA 0,1 NA 1 . AATT . 2989.6 8.401e-06 NA 3.097e-05 NA NA NA 9.239e-06 NA NA 82864411 WDFY3 23001 . GRCh38 chr4 84718489 84718489 + Frame_Shift_Del DEL A A - novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.7687del p.Tyr2563MetfsTer2 p.Y2563Mfs*2 ENST00000295888 48/68 NA NA NA NA NA NA WDFY3,frameshift_variant,p.Tyr2563MetfsTer2,ENST00000295888,NM_014991.6;WDFY3,frameshift_variant,p.Tyr166MetfsTer2,ENST00000514711,; - ENSG00000163625 ENST00000295888 Transcript frameshift_variant 8394/14559 7687/10581 2563/3526 Y/X Tat/at 1 NA -1 WDFY3 HGNC HGNC:20751 protein_coding YES CCDS3609.1 ENSP00000295888 Q8IZQ1.163 A0A024RDC2.3 UPI000013E2C7 NM_014991.6 48/68 PROSITE_profiles:PS51783,CDD:cd01201,PANTHER:PTHR46108:SF1,PANTHER:PTHR46108,Superfamily:SSF50729 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 NA NA 1 . ATAA . 1497.6 NA NA NA NA NA NA NA NA NA 84718488 WDFY3 23001 . GRCh38 chr4 84780239 84780239 + Missense_Mutation SNP C C T NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4234G>A p.Ala1412Thr p.A1412T ENST00000295888 26/68 NA NA NA NA NA NA WDFY3,missense_variant,p.Ala1412Thr,ENST00000295888,NM_014991.6; T ENSG00000163625 ENST00000295888 Transcript missense_variant 4941/14559 4234/10581 1412/3526 A/T Gca/Aca COSV99884475 1 NA -1 WDFY3 HGNC HGNC:20751 protein_coding YES CCDS3609.1 ENSP00000295888 Q8IZQ1.163 A0A024RDC2.3 UPI000013E2C7 NM_014991.6 deleterious(0.02) benign(0.409) 26/68 Low_complexity_(Seg):seg,PANTHER:PTHR46108:SF1,PANTHER:PTHR46108 NA NA NA NA NA NA NA NA NA 1 NA NA NA NA MODERATE 1 SNV 1 NA 1 NA 1 . GCA . 1524.6 NA NA NA NA NA NA NA NA NA 84780239 PKD2 5311 . GRCh38 chr4 88065406 88065407 + Frame_Shift_Ins INS - - A rs757757289 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2159dup p.Asn720LysfsTer5 p.N720Kfs*5 ENST00000237596 11/15 NA NA NA NA NA NA PKD2,frameshift_variant,p.Asn720LysfsTer5,ENST00000237596,NM_000297.4;PKD2,frameshift_variant,p.Asn138LysfsTer5,ENST00000508588,;PKD2,frameshift_variant,p.Asn138LysfsTer5,ENST00000502363,;PKD2,non_coding_transcript_exon_variant,,ENST00000511337,;PKD2,non_coding_transcript_exon_variant,,ENST00000512858,; A ENSG00000118762 ENST00000237596 Transcript frameshift_variant 2250-2251/5089 2151-2152/2907 717-718/968 -/X -/A rs757757289 1 NA 1 PKD2 HGNC HGNC:9009 protein_coding YES CCDS3627.1 ENSP00000237596 Q13563.206 UPI000013CA1D NM_000297.4 11/15 PDB-ENSP_mappings:2kld.A,PDB-ENSP_mappings:2kle.A,PDB-ENSP_mappings:2y4q.A,PDB-ENSP_mappings:5k47.A,PDB-ENSP_mappings:5k47.B,PDB-ENSP_mappings:5k47.C,PDB-ENSP_mappings:5k47.D,PDB-ENSP_mappings:5mke.A,PDB-ENSP_mappings:5mke.B,PDB-ENSP_mappings:5mke.C,PDB-ENSP_mappings:5mke.D,PDB-ENSP_mappings:5mkf.A,PDB-ENSP_mappings:5mkf.B,PDB-ENSP_mappings:5mkf.C,PDB-ENSP_mappings:5mkf.D,PDB-ENSP_mappings:6a70.A,PDB-ENSP_mappings:6a70.F,PDB-ENSP_mappings:6a70.G,PDB-ENSP_mappings:6d1w.A,PDB-ENSP_mappings:6d1w.B,PDB-ENSP_mappings:6d1w.C,PDB-ENSP_mappings:6d1w.D,PDB-ENSP_mappings:6t9n.A,PDB-ENSP_mappings:6t9n.B,PDB-ENSP_mappings:6t9n.C,PDB-ENSP_mappings:6t9n.D,PDB-ENSP_mappings:6t9o.A,PDB-ENSP_mappings:6t9o.B,PDB-ENSP_mappings:6t9o.C,PDB-ENSP_mappings:6t9o.D,PDB-ENSP_mappings:6wb8.A,PDB-ENSP_mappings:6wb8.B,PDB-ENSP_mappings:6wb8.C,PDB-ENSP_mappings:6wb8.D,PANTHER:PTHR10877,PANTHER:PTHR10877:SF114,Superfamily:SSF47473,Prints:PR01433 NA NA NA NA NA NA NA NA NA pathogenic 9573526 NA NA NA NA HIGH 1 insertion 1 8 1 NA 1 . TGA . 753.64 7.964e-06 NA NA NA NA NA 1.762e-05 NA NA 88065406 ABCG2 9429 . GRCh38 chr4 88113416 88113418 + In_Frame_Del DEL TCT TCT - rs750972998 NA HCI-EC-23 NORMAL TCT TCT NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1079_1081del p.Lys360del p.K360del ENST00000650821 10/17 NA NA NA NA NA NA ABCG2,inframe_deletion,p.Lys360del,ENST00000650821,NM_001348985.1;ABCG2,inframe_deletion,p.Lys360del,ENST00000515655,NM_001257386.2;ABCG2,inframe_deletion,p.Lys360del,ENST00000237612,NM_001348989.1,NM_001348986.1,NM_001348987.1,NM_001348988.1,NM_004827.3; - ENSG00000118777 ENST00000650821 Transcript inframe_deletion 1871-1873/4844 1079-1081/1968 360-361/655 KI/I aAGAtc/atc rs750972998 1 NA -1 ABCG2 HGNC HGNC:74 protein_coding YES CCDS3628.1 ENSP00000498246 Q9UNQ0.201 A1LUE4.3 UPI0000001275 NM_001348985.1 10/17 PANTHER:PTHR19241,PANTHER:PTHR19241:SF268 NA NA NA NA NA NA NA 0.005159 0.007148 30894219,31003562 NA NA NA NA MODERATE 1 deletion NA NA NA 1 . GATCTT . 3966.6 0.0001077 0.0003079 5.818e-05 0.0001987 5.444e-05 NA 0.0001498 NA NA 88113415 SMARCAD1 56916 . GRCh38 chr4 94278928 94278929 + Frame_Shift_Ins INS - - A rs750056186 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2309dup p.Asn770LysfsTer28 p.N770Kfs*28 ENST00000359052 19/24 NA NA NA NA NA NA SMARCAD1,frameshift_variant,p.Asn768LysfsTer28,ENST00000354268,NM_001375855.1,NM_001375858.1,NM_020159.5,NM_001375857.1,NM_001375856.1;SMARCAD1,frameshift_variant,p.Asn770LysfsTer28,ENST00000359052,NM_001128430.2;SMARCAD1,frameshift_variant,p.Asn770LysfsTer28,ENST00000457823,NM_001128429.3;SMARCAD1,frameshift_variant,p.Asn338LysfsTer28,ENST00000509418,NM_001375859.1,NM_001254949.2;SMARCAD1,3_prime_UTR_variant,,ENST00000394961,;SMARCAD1,downstream_gene_variant,,ENST00000510105,;SMARCAD1,downstream_gene_variant,,ENST00000514232,; A ENSG00000163104 ENST00000359052 Transcript frameshift_variant 2476-2477/5017 2302-2303/3087 768/1028 E/EX gaa/gAaa rs750056186 1 NA 1 SMARCAD1 HGNC HGNC:18398 protein_coding YES CCDS47101.1 ENSP00000351947 Q9H4L7.179 UPI000020B1CF NM_001128430.2 19/24 Pfam:PF00176,PANTHER:PTHR10799,PANTHER:PTHR10799:SF964,Superfamily:SSF52540 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 insertion 1 7 NA 1 . AGA . 1799.64 NA NA NA NA NA NA NA NA NA 94278928 MTTP 4547 . GRCh38 chr4 99589710 99589710 + Missense_Mutation SNP G G C rs1266532973 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.542G>C p.Ser181Thr p.S181T ENST00000511045 4/18 NA NA NA NA NA NA MTTP,missense_variant,p.Ser154Thr,ENST00000457717,NM_000253.4;MTTP,missense_variant,p.Ser154Thr,ENST00000265517,;MTTP,missense_variant,p.Ser181Thr,ENST00000511045,NM_001300785.1;MTTP,missense_variant,p.Ser164Thr,ENST00000506883,; C ENSG00000138823 ENST00000511045 Transcript missense_variant 555/3154 542/2766 181/921 S/T aGc/aCc rs1266532973 1 NA 1 MTTP HGNC HGNC:7467 protein_coding YES CCDS75169.1 ENSP00000427679 E9PBP6.69 UPI0001D3B6EF NM_001300785.1 deleterious(0) probably_damaging(0.997) 4/18 PROSITE_profiles:PS51211,PANTHER:PTHR13024,PANTHER:PTHR13024:SF1,Pfam:PF01347,Gene3D:2.30.230.10,SMART:SM00638,Superfamily:SSF56968 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 2 NA NA 1 . AGC . 1792.6 NA NA NA NA NA NA NA NA NA 99589710 C4orf54 285556 . GRCh38 chr4 99652968 99652968 + Missense_Mutation SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1681G>A p.Glu561Lys p.E561K ENST00000511828 1/2 NA NA NA NA NA NA C4orf54,missense_variant,p.Glu561Lys,ENST00000511828,NM_001354435.1;,regulatory_region_variant,,ENSR00000731310,; T ENSG00000248713 ENST00000511828 Transcript missense_variant 1681/10086 1681/5382 561/1793 E/K Gaa/Aaa 1 NA -1 C4orf54 HGNC HGNC:27741 protein_coding YES CCDS87246.1 ENSP00000427555 D6RIA3.63 UPI0001D3B6FE NM_001354435.1 deleterious(0.02) probably_damaging(0.955) 1/2 PANTHER:PTHR33775,PANTHER:PTHR33775:SF4 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . TCA . 5006.6 NA NA NA NA NA NA NA NA NA 99652968 TBCK 93627 . GRCh38 chr4 106242555 106242555 + Missense_Mutation SNP T T C rs1377456328 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1085A>G p.Asp362Gly p.D362G ENST00000394708 12/26 NA NA NA NA NA NA TBCK,missense_variant,p.Asp362Gly,ENST00000394708,NM_001163435.3;TBCK,missense_variant,p.Asp362Gly,ENST00000273980,NM_001163436.4;TBCK,missense_variant,p.Asp323Gly,ENST00000394706,NM_001163437.3;TBCK,missense_variant,p.Asp299Gly,ENST00000361687,NM_033115.5,NM_001290768.2;TBCK,upstream_gene_variant,,ENST00000503516,;TBCK,missense_variant,p.Asp101Gly,ENST00000508666,;TBCK,3_prime_UTR_variant,,ENST00000467183,;TBCK,non_coding_transcript_exon_variant,,ENST00000510927,;TBCK,downstream_gene_variant,,ENST00000505574,; C ENSG00000145348 ENST00000394708 Transcript missense_variant 1393/7961 1085/2682 362/893 D/G gAt/gGt rs1377456328 1 NA -1 TBCK HGNC HGNC:28261 protein_coding YES CCDS54788.1 ENSP00000378198 Q8TEA7.145 UPI000013EF70 NM_001163435.3 tolerated(0.07) benign(0.038) 12/26 PANTHER:PTHR22957,PANTHER:PTHR22957:SF168 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . ATC . 912.6 NA NA NA NA NA NA NA NA NA 106242555 COL25A1 84570 . GRCh38 chr4 108899162 108899162 + Missense_Mutation SNP C C A novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.853G>T p.Gly285Cys p.G285C ENST00000642955 14/39 NA NA NA NA NA NA COL25A1,missense_variant,p.Gly285Cys,ENST00000642955,;COL25A1,missense_variant,p.Gly285Cys,ENST00000399132,NM_198721.4;COL25A1,missense_variant,p.Gly123Cys,ENST00000622134,;COL25A1,missense_variant,p.Gly50Cys,ENST00000610288,;COL25A1,missense_variant,p.Gly285Cys,ENST00000399126,NM_032518.3;COL25A1,missense_variant,p.Gly281Cys,ENST00000399127,NM_001256074.2;COL25A1,missense_variant,p.Gly213Cys,ENST00000494183,; A ENSG00000188517 ENST00000642955 Transcript missense_variant 1586/8026 853/2091 285/696 G/C Ggt/Tgt 1 NA -1 COL25A1 HGNC HGNC:18603 protein_coding YES ENSP00000495847 A0A2R8Y760.13 UPI0005D02BEE deleterious(0) probably_damaging(0.998) 14/39 PANTHER:PTHR24637,PANTHER:PTHR24637:SF281,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV NA NA NA 1 . CCT . 535.6 NA NA NA NA NA NA NA NA NA 108899162 ANK2 287 . GRCh38 chr4 113282692 113282692 + Silent SNP A A G rs377608305 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1836A>G p.Leu612= p.L612= ENST00000672209 19/48 NA NA NA NA NA NA ANK2,synonymous_variant,p.Leu648=,ENST00000672240,NM_001354237.1;ANK2,synonymous_variant,p.Leu648=,ENST00000671971,;ANK2,synonymous_variant,p.Leu648=,ENST00000673363,;ANK2,synonymous_variant,p.Leu612=,ENST00000672209,;ANK2,synonymous_variant,p.Leu612=,ENST00000672830,;ANK2,synonymous_variant,p.Leu633=,ENST00000672502,;ANK2,synonymous_variant,p.Leu612=,ENST00000671809,;ANK2,synonymous_variant,p.Leu612=,ENST00000672090,;ANK2,synonymous_variant,p.Leu604=,ENST00000671906,;ANK2,synonymous_variant,p.Leu600=,ENST00000672251,;ANK2,synonymous_variant,p.Leu579=,ENST00000673573,;ANK2,synonymous_variant,p.Leu579=,ENST00000672934,;ANK2,synonymous_variant,p.Leu571=,ENST00000673109,;ANK2,synonymous_variant,p.Leu612=,ENST00000672068,;ANK2,synonymous_variant,p.Leu612=,ENST00000673298,;ANK2,synonymous_variant,p.Leu633=,ENST00000357077,NM_001148.6;ANK2,synonymous_variant,p.Leu612=,ENST00000673555,;ANK2,synonymous_variant,p.Leu612=,ENST00000672930,;ANK2,synonymous_variant,p.Leu612=,ENST00000673334,;ANK2,synonymous_variant,p.Leu605=,ENST00000671882,;ANK2,synonymous_variant,p.Leu612=,ENST00000503423,;ANK2,synonymous_variant,p.Leu633=,ENST00000264366,;ANK2,synonymous_variant,p.Leu648=,ENST00000673240,NM_001354269.1,NM_001354231.1,NM_001354242.1,NM_001354240.1;ANK2,synonymous_variant,p.Leu633=,ENST00000671762,NM_001354235.1,NM_001354232.1;ANK2,synonymous_variant,p.Leu612=,ENST00000672362,NM_001354239.1;ANK2,synonymous_variant,p.Leu612=,ENST00000672402,NM_001354244.1,NM_001354243.1;ANK2,synonymous_variant,p.Leu490=,ENST00000673536,;ANK2,synonymous_variant,p.Leu612=,ENST00000671825,NM_001354254.1,NM_001354256.1,NM_001354255.1;ANK2,synonymous_variant,p.Leu612=,ENST00000672793,;ANK2,synonymous_variant,p.Leu633=,ENST00000672366,NM_001354258.1,NM_001354273.1;ANK2,synonymous_variant,p.Leu648=,ENST00000672779,NM_001354241.1;ANK2,synonymous_variant,p.Leu612=,ENST00000672965,;ANK2,synonymous_variant,p.Leu604=,ENST00000672955,NM_001354266.1;ANK2,synonymous_variant,p.Leu604=,ENST00000672177,;ANK2,synonymous_variant,p.Leu612=,ENST00000672312,NM_001354262.1;ANK2,synonymous_variant,p.Leu600=,ENST00000672854,NM_001354268.1;ANK2,synonymous_variant,p.Leu579=,ENST00000673546,NM_001354270.1;ANK2,synonymous_variant,p.Leu604=,ENST00000671704,NM_001354261.1,NM_001354267.1;ANK2,synonymous_variant,p.Leu571=,ENST00000671951,NM_001354271.1;ANK2,synonymous_variant,p.Leu604=,ENST00000672221,NM_001354264.1;ANK2,synonymous_variant,p.Leu579=,ENST00000672684,;ANK2,synonymous_variant,p.Leu612=,ENST00000671793,;ANK2,synonymous_variant,p.Leu571=,ENST00000672759,;ANK2,synonymous_variant,p.Leu633=,ENST00000671727,NM_001354236.1,NM_001354228.1;ANK2,synonymous_variant,p.Leu612=,ENST00000671756,NM_001354275.1;ANK2,synonymous_variant,p.Leu612=,ENST00000673430,;ANK2,synonymous_variant,p.Leu612=,ENST00000672990,NM_001354230.1;ANK2,synonymous_variant,p.Leu612=,ENST00000673255,;ANK2,synonymous_variant,p.Leu612=,ENST00000672880,;ANK2,synonymous_variant,p.Leu604=,ENST00000672088,NM_001354249.1;ANK2,synonymous_variant,p.Leu600=,ENST00000672045,NM_001354245.1;ANK2,synonymous_variant,p.Leu612=,ENST00000506722,NM_001354252.1,NM_001127493.2;ANK2,synonymous_variant,p.Leu571=,ENST00000672356,NM_001354260.1;ANK2,synonymous_variant,p.Leu579=,ENST00000672350,NM_001354253.1;ANK2,synonymous_variant,p.Leu579=,ENST00000671854,NM_001354257.1;ANK2,synonymous_variant,p.Leu612=,ENST00000672696,;ANK2,synonymous_variant,p.Leu612=,ENST00000672315,;ANK2,synonymous_variant,p.Leu612=,ENST00000673044,;ANK2,synonymous_variant,p.Leu604=,ENST00000673453,NM_001354274.1;ANK2,synonymous_variant,p.Leu612=,ENST00000672246,NM_001354272.1;ANK2,synonymous_variant,p.Leu604=,ENST00000672731,NM_001354276.1;ANK2,synonymous_variant,p.Leu472=,ENST00000672986,;ANK2,synonymous_variant,p.Leu538=,ENST00000671893,NM_001354277.1;ANK2,synonymous_variant,p.Leu633=,ENST00000394537,NM_001354225.1,NM_001354246.1,NM_001354265.1,NM_020977.4;ANK2,synonymous_variant,p.Leu648=,ENST00000504454,;ANK2,synonymous_variant,p.Leu605=,ENST00000634436,;ANK2,synonymous_variant,p.Leu612=,ENST00000503271,;ANK2,synonymous_variant,p.Leu522=,ENST00000673943,;ANK2,synonymous_variant,p.Leu612=,ENST00000671863,; G ENSG00000145362 ENST00000672209 Transcript synonymous_variant 2035/14932 1836/11988 612/3995 L ttA/ttG rs377608305 1 NA 1 ANK2 HGNC HGNC:493 protein_coding YES ENSP00000499982 A0A5F9ZH30.2 UPI001234994A 19/48 Gene3D:1.25.40.20,Pfam:PF12796,PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,PANTHER:PTHR24173,PANTHER:PTHR24173:SF61,SMART:SM00248,Superfamily:SSF48403 NA NA NA NA NA NA NA NA 0.0001163 likely_benign,benign,uncertain_significance NA NA NA NA LOW 1 SNV NA NA 1 NA 1 . TAC . 2383.6 5.201e-05 NA NA NA NA NA 0.000115 NA NA 113282692 SEC24D 9871 . GRCh38 chr4 118738311 118738311 + Missense_Mutation SNP T T C novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2446A>G p.Met816Val p.M816V ENST00000280551 19/23 NA NA NA NA NA NA SEC24D,missense_variant,p.Met816Val,ENST00000280551,NM_014822.4,NM_001318066.2;SEC24D,missense_variant,p.Met372Val,ENST00000419654,;SEC24D,missense_variant,p.Met447Val,ENST00000511481,;SEC24D,non_coding_transcript_exon_variant,,ENST00000505134,;SEC24D,3_prime_UTR_variant,,ENST00000514561,;SEC24D,non_coding_transcript_exon_variant,,ENST00000502526,;SEC24D,upstream_gene_variant,,ENST00000511715,; C ENSG00000150961 ENST00000280551 Transcript missense_variant 2673/4018 2446/3099 816/1032 M/V Atg/Gtg 1 NA -1 SEC24D HGNC HGNC:10706 protein_coding YES CCDS3710.1 ENSP00000280551 O94855.172 UPI00001AEA4F NM_014822.4,NM_001318066.2 tolerated(0.14) benign(0.15) 19/23 PDB-ENSP_mappings:3efo.B,PDB-ENSP_mappings:3eg9.B,PDB-ENSP_mappings:5kyu.B,PDB-ENSP_mappings:5kyw.B,PDB-ENSP_mappings:5kyx.B,PDB-ENSP_mappings:5kyy.B,PANTHER:PTHR13803,PANTHER:PTHR13803:SF6,Gene3D:1.20.120.730,Pfam:PF04815,Superfamily:SSF81811 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . ATA . 1742.6 NA NA NA NA NA NA NA NA NA 118738311 SYNPO2 171024 . GRCh38 chr4 119030038 119030038 + Silent SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1263G>A p.Ala421= p.A421= ENST00000307142 4/5 NA NA NA NA NA NA SYNPO2,synonymous_variant,p.Ala421=,ENST00000429713,NM_001128933.3;SYNPO2,synonymous_variant,p.Ala26=,ENST00000627783,;SYNPO2,synonymous_variant,p.Ala421=,ENST00000307142,NM_133477.3;SYNPO2,synonymous_variant,p.Ala373=,ENST00000504178,;SYNPO2,synonymous_variant,p.Ala390=,ENST00000610556,NM_001286754.2;SYNPO2,synonymous_variant,p.Ala421=,ENST00000434046,NM_001128934.3;SYNPO2,intron_variant,,ENST00000448416,NM_001286755.1; A ENSG00000172403 ENST00000307142 Transcript synonymous_variant 1446/7282 1263/3786 421/1261 A gcG/gcA 1 NA 1 SYNPO2 HGNC HGNC:17732 protein_coding YES CCDS34054.1 ENSP00000306015 Q9UMS6.158 UPI00001D75EB NM_133477.3 4/5 PANTHER:PTHR24217,PANTHER:PTHR24217:SF9,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . CGG . 2287.6 NA NA NA NA NA NA NA NA NA 119030038 EXOSC9 5393 . GRCh38 chr4 121802739 121802739 + Frame_Shift_Del DEL T T - novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.234del p.Phe78LeufsTer23 p.F78Lfs*23 ENST00000379663 3/13 NA NA NA NA NA NA EXOSC9,frameshift_variant,p.Phe78LeufsTer23,ENST00000243498,NM_005033.3;EXOSC9,frameshift_variant,p.Phe62LeufsTer23,ENST00000512454,;EXOSC9,frameshift_variant,p.Phe78LeufsTer23,ENST00000379663,NM_001034194.2;EXOSC9,frameshift_variant,p.Phe78LeufsTer23,ENST00000509800,;EXOSC9,upstream_gene_variant,,ENST00000511132,;EXOSC9,non_coding_transcript_exon_variant,,ENST00000509980,;EXOSC9,non_coding_transcript_exon_variant,,ENST00000508212,;EXOSC9,upstream_gene_variant,,ENST00000503139,;EXOSC9,frameshift_variant,p.Phe78LeufsTer23,ENST00000513654,;EXOSC9,splice_region_variant,,ENST00000511454,;EXOSC9,upstream_gene_variant,,ENST00000506201,;,regulatory_region_variant,,ENSR00000172667,; - ENSG00000123737 ENST00000379663 Transcript frameshift_variant 332/1529 227/1371 76/456 L/X cTt/ct 1 NA 1 EXOSC9 HGNC HGNC:9137 protein_coding YES CCDS34057.1 ENSP00000368984 Q06265.193 UPI000000DCC3 NM_001034194.2 3/13 CDD:cd11368,PANTHER:PTHR11097:SF14,PANTHER:PTHR11097,Gene3D:3.30.230.70,Pfam:PF01138,Superfamily:SSF54211 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 7 NA 1 . TCTT . 2933.6 NA NA NA NA NA NA NA NA NA 121802738 SMARCA5 8467 . GRCh38 chr4 143546877 143546877 + Silent SNP C C A novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2622C>A p.Gly874= p.G874= ENST00000283131 20/24 NA NA NA NA NA NA SMARCA5,synonymous_variant,p.Gly874=,ENST00000283131,NM_003601.4;SMARCA5,upstream_gene_variant,,ENST00000508573,;SMARCA5,downstream_gene_variant,,ENST00000515531,; A ENSG00000153147 ENST00000283131 Transcript synonymous_variant 2845/7684 2622/3159 874/1052 G ggC/ggA 1 NA 1 SMARCA5 HGNC HGNC:11101 protein_coding YES CCDS3761.1 ENSP00000283131 O60264.198 UPI000006E693 NM_003601.4 20/24 PROSITE_profiles:PS51293,CDD:cd00167,PANTHER:PTHR10799,PANTHER:PTHR10799:SF819,Gene3D:1.10.10.60,SMART:SM00717,Superfamily:SSF46689 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . GCA . 166.6 NA NA NA NA NA NA NA NA NA 143546877 SMARCA5 8467 . GRCh38 chr4 143547948 143547948 + Silent SNP T T C novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2793T>C p.Pro931= p.P931= ENST00000283131 22/24 NA NA NA NA NA NA SMARCA5,synonymous_variant,p.Pro931=,ENST00000283131,NM_003601.4;SMARCA5,non_coding_transcript_exon_variant,,ENST00000508573,;SMARCA5,downstream_gene_variant,,ENST00000515531,; C ENSG00000153147 ENST00000283131 Transcript synonymous_variant 3016/7684 2793/3159 931/1052 P ccT/ccC 1 NA 1 SMARCA5 HGNC HGNC:11101 protein_coding YES CCDS3761.1 ENSP00000283131 O60264.198 UPI000006E693 NM_003601.4 22/24 PANTHER:PTHR10799,PANTHER:PTHR10799:SF819,Pfam:PF09111,Gene3D:1.10.10.60,Superfamily:SSF46689 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . CTT . 71.6 NA NA NA NA NA NA NA NA NA 143547948 SMARCA5 8467 . GRCh38 chr4 143547960 143547960 + Silent SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2805G>A p.Leu935= p.L935= ENST00000283131 22/24 NA NA NA NA NA NA SMARCA5,synonymous_variant,p.Leu935=,ENST00000283131,NM_003601.4;SMARCA5,non_coding_transcript_exon_variant,,ENST00000508573,;SMARCA5,downstream_gene_variant,,ENST00000515531,; A ENSG00000153147 ENST00000283131 Transcript synonymous_variant 3028/7684 2805/3159 935/1052 L ctG/ctA 1 NA 1 SMARCA5 HGNC HGNC:11101 protein_coding YES CCDS3761.1 ENSP00000283131 O60264.198 UPI000006E693 NM_003601.4 22/24 PANTHER:PTHR10799,PANTHER:PTHR10799:SF819,Pfam:PF09111,Gene3D:1.10.10.60,Superfamily:SSF46689 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . TGA . 50.6 NA NA NA NA NA NA NA NA NA 143547960 ABCE1 6059 . GRCh38 chr4 145110425 145110425 + Silent SNP A A G novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.594A>G p.Ala198= p.A198= ENST00000296577 7/18 NA NA NA NA NA NA ABCE1,synonymous_variant,p.Ala198=,ENST00000296577,NM_002940.3,NM_001040876.2;ABCE1,synonymous_variant,p.Ala198=,ENST00000502586,;ABCE1,intron_variant,,ENST00000502803,;ABCE1,intron_variant,,ENST00000506506,;OTUD4,downstream_gene_variant,,ENST00000455611,;ABCE1,synonymous_variant,p.Ala198=,ENST00000507193,;ABCE1,synonymous_variant,p.Ala131=,ENST00000504292,; G ENSG00000164163 ENST00000296577 Transcript synonymous_variant 730/3887 594/1800 198/599 A gcA/gcG 1 NA 1 ABCE1 HGNC HGNC:69 protein_coding YES CCDS34071.1 ENSP00000296577 P61221.167 UPI0000001226 NM_002940.3,NM_001040876.2 7/18 CDD:cd03236,Pfam:PF00005,Gene3D:3.40.50.300,SMART:SM00382,Superfamily:SSF52540,PROSITE_profiles:PS50893,PANTHER:PTHR19248:SF16,PANTHER:PTHR19248 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . CAA . 110.6 NA NA NA NA NA NA NA NA NA 145110425 POU4F2 5458 . GRCh38 chr4 146639957 146639957 + Missense_Mutation SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.379C>T p.His127Tyr p.H127Y ENST00000281321 2/2 NA NA NA NA NA NA POU4F2,missense_variant,p.His127Tyr,ENST00000281321,NM_004575.3; T ENSG00000151615 ENST00000281321 Transcript missense_variant 627/3144 379/1230 127/409 H/Y Cac/Tac 1 NA 1 POU4F2 HGNC HGNC:9219 protein_coding YES CCDS34074.1 ENSP00000281321 Q12837.180 UPI000013DC6C NM_004575.3 tolerated_low_confidence(0.08) possibly_damaging(0.723) 2/2 Low_complexity_(Seg):seg,PANTHER:PTHR11636,PANTHER:PTHR11636:SF41 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CCA . 1853.6 NA NA NA NA NA NA NA NA NA 146639957 FHDC1 85462 . GRCh38 chr4 152975107 152975107 + Missense_Mutation SNP G G T novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1816G>T p.Gly606Trp p.G606W ENST00000511601 12/12 NA NA NA NA NA NA FHDC1,missense_variant,p.Gly606Trp,ENST00000511601,NM_001371116.1,NM_033393.2; T ENSG00000137460 ENST00000511601 Transcript missense_variant 2004/6583 1816/3432 606/1143 G/W Ggg/Tgg 1 NA 1 FHDC1 HGNC HGNC:29363 protein_coding YES CCDS34081.1 ENSP00000427567 Q9C0D6.118 UPI00001D7673 NM_001371116.1,NM_033393.2 deleterious(0.01) benign(0.145) 12/12 PANTHER:PTHR45691,PANTHER:PTHR45691:SF1,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . GGG . 3476.6 NA NA NA NA NA NA NA NA NA 152975107 ASIC5 51802 . GRCh38 chr4 155866218 155866218 + Silent SNP C C T rs761872496 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.9G>A p.Gln3= p.Q3= ENST00000537611 1/10 NA NA NA NA NA NA ASIC5,synonymous_variant,p.Gln3=,ENST00000537611,NM_017419.3;TDO2,intron_variant,,ENST00000506072,;TDO2,intron_variant,,ENST00000507590,;TDO2,intron_variant,,ENST00000503634,;TDO2,downstream_gene_variant,,ENST00000506181,; T ENSG00000256394 ENST00000537611 Transcript synonymous_variant 60/1696 9/1518 3/505 Q caG/caA rs761872496,COSV72233059 1 NA -1 ASIC5 HGNC HGNC:17537 protein_coding YES CCDS3793.1 ENSP00000442477 Q9NY37.124 UPI00000433EB NM_017419.3 1/10 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA LOW 1 SNV 1 NA 0,1 NA NA . TCT . 793.6 NA NA NA NA NA NA NA NA NA 155866218 STOX2 56977 . GRCh38 chr4 184001330 184001330 + Missense_Mutation SNP G G A rs749347622 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.172G>A p.Val58Ile p.V58I ENST00000308497 2/4 NA NA NA NA NA NA STOX2,missense_variant,p.Val58Ile,ENST00000308497,NM_020225.3;STOX2,missense_variant,p.Val124Ile,ENST00000513034,;AC074194.1,downstream_gene_variant,,ENST00000505025,;STOX2,non_coding_transcript_exon_variant,,ENST00000511250,;STOX2,missense_variant,p.Met13Ile,ENST00000512520,;,regulatory_region_variant,,ENSR00001090892,; A ENSG00000173320 ENST00000308497 Transcript missense_variant 1656/10507 172/2781 58/926 V/I Gta/Ata rs749347622 1 NA 1 STOX2 HGNC HGNC:25450 protein_coding YES CCDS47167.1 ENSP00000311257 Q9P2F5.115 UPI00001C1E11 NM_020225.3 deleterious(0.04) probably_damaging(0.967) 2/4 PANTHER:PTHR22437,PANTHER:PTHR22437:SF2 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . TGT . 1608.6 1.607e-05 6.458e-05 2.905e-05 NA NA NA NA 0.0003315 NA 184001330 KLKB1 3818 . GRCh38 chr4 186236865 186236865 + Frame_Shift_Del DEL A A - rs755680952 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.561del p.Arg188GlyfsTer29 p.R188Gfs*29 ENST00000511608 5/15 NA NA NA NA NA NA KLKB1,frameshift_variant,p.Arg188GlyfsTer29,ENST00000511608,;KLKB1,frameshift_variant,p.Arg140GlyfsTer29,ENST00000264690,NM_001318396.2,NM_000892.5;KLKB1,frameshift_variant,p.Arg102GlyfsTer29,ENST00000513864,NM_001318394.2;KLKB1,frameshift_variant,p.Arg140GlyfsTer?,ENST00000428196,;KLKB1,frameshift_variant,p.Arg102GlyfsTer29,ENST00000446598,;KLKB1,non_coding_transcript_exon_variant,,ENST00000511406,; - ENSG00000164344 ENST00000511608 Transcript frameshift_variant 556/2317 557/2061 186/686 Q/X cAa/ca rs755680952 1 NA 1 KLKB1 HGNC HGNC:6371 protein_coding YES ENSP00000426629 H0YAC1.65 UPI0001D3BA87 5/15 CDD:cd01100,Gene3D:3.50.4.10,Pfam:PF00024,SMART:SM00223,PROSITE_profiles:PS50948,PANTHER:PTHR24253,PANTHER:PTHR24253:SF64 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 5 5 NA 1 . CCAA . 2462.6 3.978e-06 NA NA NA NA NA NA NA 3.269e-05 186236864 MTNR1A 4543 . GRCh38 chr4 186534001 186534001 + Frame_Shift_Del DEL A A - novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.741del p.Phe247LeufsTer8 p.F247Lfs*8 ENST00000307161 2/2 NA NA NA NA NA NA MTNR1A,frameshift_variant,p.Phe247LeufsTer8,ENST00000307161,NM_005958.4;AC018709.1,intron_variant,,ENST00000509111,; - ENSG00000168412 ENST00000307161 Transcript frameshift_variant 943/1289 741/1053 247/350 F/X ttT/tt 1 NA -1 MTNR1A HGNC HGNC:7463 protein_coding YES CCDS3848.1 ENSP00000302811 P48039.172 UPI0000050407 NM_005958.4 2/2 Gene3D:1.20.1070.10,PDB-ENSP_mappings:6me2.A,PDB-ENSP_mappings:6me3.A,PDB-ENSP_mappings:6me4.A,PDB-ENSP_mappings:6me5.A,PDB-ENSP_mappings:6ps8.A,Pfam:PF00001,Prints:PR00237,PROSITE_profiles:PS50262,PANTHER:PTHR24228,PANTHER:PTHR24228:SF53,SMART:SM01381,Superfamily:SSF81321,Transmembrane_helices:TMhelix,CDD:cd15402 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 NA NA NA . GCAA . 2721.6 NA NA NA NA NA NA NA NA NA 186534000 FAT1 2195 . GRCh38 chr4 186706858 186706858 + Missense_Mutation SNP G G C novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2970C>G p.Asp990Glu p.D990E ENST00000614102 2/29 NA NA NA NA NA NA FAT1,missense_variant,p.Asp990Glu,ENST00000441802,NM_005245.4;FAT1,missense_variant,p.Asp990Glu,ENST00000614102,;FAT1,downstream_gene_variant,,ENST00000509647,;AC107050.1,downstream_gene_variant,,ENST00000667182,; C ENSG00000083857 ENST00000614102 Transcript missense_variant 3158/14758 2970/13773 990/4590 D/E gaC/gaG 1 NA -1 FAT1 HGNC HGNC:3595 protein_coding YES ENSP00000479573 A0A087WVP1.48 UPI0002065B94 deleterious(0) possibly_damaging(0.597) 2/29 Gene3D:2.60.40.60,Pfam:PF00028,Prints:PR00205,PROSITE_profiles:PS50268,PANTHER:PTHR24025,PANTHER:PTHR24025:SF21,SMART:SM00112,Superfamily:SSF49313,CDD:cd11304 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA 1 . AGT . 1865.6 NA NA NA NA NA NA NA NA NA 186706858 DUX4 728410 . GRCh38 chr4 190175029 190175029 + Missense_Mutation SNP C C A novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1256C>A p.Ala419Asp p.A419D ENST00000565211 1/2 NA NA NA NA NA NA DUX4,missense_variant,p.Ala419Asp,ENST00000565211,NM_001306068.3;DUX4,missense_variant,p.Ala419Asp,ENST00000569241,NM_001293798.3;DUX4,missense_variant,p.Ala419Asp,ENST00000616166,;DUX4,intron_variant,,ENST00000570263,NM_001363820.2;DUX4,upstream_gene_variant,,ENST00000563716,; A ENSG00000260596 ENST00000565211 Transcript missense_variant 1256/1710 1256/1275 419/424 A/D gCt/gAt 1 NA 1 DUX4 HGNC HGNC:50800 protein_coding YES CCDS77990.1 ENSP00000458065 Q9UBX2.150 C3U3A0.89 UPI00000728F1 NM_001306068.3 deleterious_low_confidence(0) benign(0.33) 1/2 PANTHER:PTHR46123,PANTHER:PTHR46123:SF3 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . GCT . 60.93 NA NA NA NA NA NA NA NA NA 190175029 ICE1 23379 . GRCh38 chr5 5462523 5462523 + Frame_Shift_Del DEL T T - novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3192del p.Phe1064LeufsTer46 p.F1064Lfs*46 ENST00000296564 13/19 NA NA NA NA NA NA ICE1,frameshift_variant,p.Phe1064LeufsTer46,ENST00000296564,NM_015325.3; - ENSG00000164151 ENST00000296564 Transcript frameshift_variant 3428/7930 3189/6801 1063/2266 C/X tgT/tg 1 NA 1 ICE1 HGNC HGNC:29154 protein_coding YES CCDS47187.1 ENSP00000296564 Q9Y2F5.126 UPI00015542F9 NM_015325.3 13/19 PANTHER:PTHR11852,PANTHER:PTHR11852:SF4 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 3 NA NA . TGTT . 3884.6 NA NA NA NA NA NA NA NA NA 5462522 NSUN2 54888 . GRCh38 chr5 6611728 6611728 + Nonsense_Mutation SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1092G>A p.Trp364Ter p.W364* ENST00000264670 10/19 NA NA NA NA NA NA NSUN2,stop_gained,p.Trp364Ter,ENST00000264670,NM_017755.6;NSUN2,stop_gained,p.Trp329Ter,ENST00000506139,NM_001193455.2;NSUN2,3_prime_UTR_variant,,ENST00000504374,;NSUN2,non_coding_transcript_exon_variant,,ENST00000505892,;NSUN2,upstream_gene_variant,,ENST00000507888,;NSUN2,upstream_gene_variant,,ENST00000514127,; T ENSG00000037474 ENST00000264670 Transcript stop_gained 1157/3056 1092/2304 364/767 W/* tgG/tgA 1 NA -1 NSUN2 HGNC HGNC:25994 protein_coding YES CCDS3869.1 ENSP00000264670 Q08J23.139 UPI000020BF2B NM_017755.6 10/19 Prints:PR02011,Superfamily:SSF53335,PANTHER:PTHR22808:SF20,PANTHER:PTHR22808,PROSITE_profiles:PS51686 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 SNV 1 NA NA 1 . TCC . 2040.6 NA NA NA NA NA NA NA NA NA 6611728 MTRR 4552 . GRCh38 chr5 7886686 7886686 + Nonsense_Mutation SNP C C T rs147960130 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1210C>T p.Arg404Ter p.R404* ENST00000264668 8/15 NA NA NA NA NA NA MTRR,stop_gained,p.Arg404Ter,ENST00000264668,;MTRR,stop_gained,p.Arg377Ter,ENST00000440940,NM_001364440.2,NM_001364441.2,NM_001364442.2,NM_002454.3,NM_024010.4;MTRR,non_coding_transcript_exon_variant,,ENST00000508101,;MTRR,non_coding_transcript_exon_variant,,ENST00000509961,;MTRR,upstream_gene_variant,,ENST00000507414,;MTRR,3_prime_UTR_variant,,ENST00000511461,;MTRR,3_prime_UTR_variant,,ENST00000513439,;MTRR,non_coding_transcript_exon_variant,,ENST00000512311,;MTRR,intron_variant,,ENST00000510525,;MTRR,upstream_gene_variant,,ENST00000507202,;MTRR,downstream_gene_variant,,ENST00000514369,;,regulatory_region_variant,,ENSR00000747982,; T ENSG00000124275 ENST00000264668 Transcript stop_gained 1240/3274 1210/2178 404/725 R/* Cga/Tga rs147960130 1 NA 1 MTRR HGNC HGNC:7473 protein_coding YES ENSP00000264668 Q9UBK8.191 UPI000013D550 8/15 PDB-ENSP_mappings:2qtl.A,PDB-ENSP_mappings:2qtz.A,Superfamily:SSF63380,Gene3D:2.40.30.10,Pfam:PF00667,Gene3D:1.20.990.10,PANTHER:PTHR19384:SF84,PANTHER:PTHR19384,CDD:cd06203,PROSITE_profiles:PS51384 NA NA NA NA NA NA NA NA 0.0001163 NA NA NA NA HIGH 1 SNV 1 NA NA 1 . CCG . 944.6 NA NA NA NA NA NA NA NA NA 7886686 DNAH5 1767 . GRCh38 chr5 13780944 13780944 + Missense_Mutation SNP G G A rs150899380 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.8836C>T p.Arg2946Cys p.R2946C ENST00000265104 53/79 NA NA NA NA NA NA DNAH5,missense_variant,p.Arg2946Cys,ENST00000265104,NM_001369.2; A ENSG00000039139 ENST00000265104 Transcript missense_variant 8941/15633 8836/13875 2946/4624 R/C Cgt/Tgt rs150899380 1 NA -1 DNAH5 HGNC HGNC:2950 protein_coding YES CCDS3882.1 ENSP00000265104 Q8TE73.166 UPI0000110101 NM_001369.2 tolerated(0.08) benign(0.168) 53/79 PANTHER:PTHR46532,PANTHER:PTHR46532:SF3,Gene3D:1.20.920.30,Pfam:PF12780,Gene3D:3.40.50.300,Superfamily:SSF52540 2e-04 NA NA NA 0.001 NA NA NA NA uncertain_significance NA NA NA NA MODERATE 1 SNV 1 NA 1 NA 1 . CGA . 3606.6 3.188e-05 NA NA NA 0.0003268 NA 1.765e-05 NA NA 13780944 TRIO 7204 . GRCh38 chr5 14498552 14498552 + Silent SNP C C T rs571477045 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.8244C>T p.Gly2748= p.G2748= ENST00000344204 53/57 NA NA NA NA NA NA TRIO,synonymous_variant,p.Gly2748=,ENST00000344204,NM_007118.4;TRIO,synonymous_variant,p.Gly2481=,ENST00000513206,;TRIO,synonymous_variant,p.Gly247=,ENST00000344135,;TRIO,intron_variant,,ENST00000620511,;TRIO,3_prime_UTR_variant,,ENST00000512070,;TRIO,non_coding_transcript_exon_variant,,ENST00000508717,;TRIO,non_coding_transcript_exon_variant,,ENST00000508343,;TRIO,non_coding_transcript_exon_variant,,ENST00000508283,;TRIO,downstream_gene_variant,,ENST00000503399,; T ENSG00000038382 ENST00000344204 Transcript synonymous_variant 8628/11460 8244/9294 2748/3097 G ggC/ggT rs571477045 1 NA 1 TRIO HGNC HGNC:12303 protein_coding YES CCDS3883.1 ENSP00000339299 O75962.209 UPI000034ECE6 NM_007118.4 53/57 Gene3D:2.60.40.10,Pfam:PF07679,PROSITE_profiles:PS50835,PANTHER:PTHR22826,PANTHER:PTHR22826:SF104,SMART:SM00408,SMART:SM00409,Superfamily:SSF48726,CDD:cd00096 2e-04 8e-04 NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . GCG . 5011.6 9.546e-05 0.000123 2.891e-05 NA NA 4.62e-05 0.0001759 NA NA 14498552 PRDM9 56979 . GRCh38 chr5 23526589 23526589 + Missense_Mutation SNP G G T NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1501G>T p.Gly501Cys p.G501C ENST00000296682 11/11 NA NA NA NA NA NA PRDM9,missense_variant,p.Gly501Cys,ENST00000296682,NM_001310214.2,NM_001376900.1,NM_020227.4;PRDM9,downstream_gene_variant,,ENST00000635252,; T ENSG00000164256 ENST00000296682 Transcript missense_variant 1689/3193 1501/2685 501/894 G/C Ggc/Tgc COSV99691146 1 NA 1 PRDM9 HGNC HGNC:13994 protein_coding YES CCDS43307.1 ENSP00000296682 Q9NQV7.166 UPI00006C9E90 NM_001310214.2,NM_001376900.1,NM_020227.4 deleterious(0.02) possibly_damaging(0.747) 11/11 PANTHER:PTHR16515,PANTHER:PTHR16515:SF10 NA NA NA NA NA NA NA NA NA 1 NA NA NA NA MODERATE 1 SNV 1 NA 1 NA NA . AGG . 4584.6 NA NA NA NA NA NA NA NA NA 23526589 PRDM9 56979 . GRCh38 chr5 23527130 23527130 + Missense_Mutation SNP C C G rs6875787 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2042C>G p.Thr681Ser p.T681S ENST00000296682 11/11 NA NA NA NA NA NA PRDM9,missense_variant,p.Thr681Ser,ENST00000296682,NM_001310214.2,NM_001376900.1,NM_020227.4;PRDM9,downstream_gene_variant,,ENST00000635252,; G ENSG00000164256 ENST00000296682 Transcript missense_variant 2230/3193 2042/2685 681/894 T/S aCt/aGt rs6875787,CM109939,COSV57002015 1 NA 1 PRDM9 HGNC HGNC:13994 protein_coding YES CCDS43307.1 ENSP00000296682 Q9NQV7.166 UPI00006C9E90 NM_001310214.2,NM_001376900.1,NM_020227.4 tolerated(0.89) benign(0.001) 11/11 Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,PANTHER:PTHR16515,PANTHER:PTHR16515:SF10,SMART:SM00355,Superfamily:SSF57667 NA NA NA NA NA NA NA NA NA likely_benign 0,0,1 25741868,20041164 NA NA NA NA MODERATE 1 SNV 1 NA 1,1,1 NA NA . ACT . 18823.03 NA NA NA NA NA NA NA NA NA 23527130 DROSHA 29102 . GRCh38 chr5 31493215 31493215 + Frame_Shift_Del DEL G G - NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1834del p.Leu612Ter p.L612* ENST00000511367 12/35 NA NA NA NA NA NA DROSHA,frameshift_variant,p.Leu612Ter,ENST00000511367,NM_013235.5,NM_001382508.1;DROSHA,frameshift_variant,p.Leu612Ter,ENST00000344624,;DROSHA,frameshift_variant,p.Leu575Ter,ENST00000442743,;DROSHA,frameshift_variant,p.Leu575Ter,ENST00000513349,NM_001100412.2;DROSHA,frameshift_variant,p.Leu374Ter,ENST00000512076,;DROSHA,upstream_gene_variant,,ENST00000512885,;,regulatory_region_variant,,ENSR00001093179,; - ENSG00000113360 ENST00000511367 Transcript frameshift_variant 2079/5305 1834/4125 612/1374 L/X Ctg/tg COSV100757868 1 NA -1 DROSHA HGNC HGNC:17904 protein_coding YES CCDS47195.1 ENSP00000425979 Q9NRR4.182 UPI0000134351 NM_013235.5,NM_001382508.1 12/35 PDB-ENSP_mappings:5b16.A,PDB-ENSP_mappings:6lxd.A,PDB-ENSP_mappings:6lxe.A,PDB-ENSP_mappings:6v5b.A,PDB-ENSP_mappings:6v5c.A NA NA NA NA NA NA NA NA NA 1 NA NA NA NA HIGH 1 deletion 1 NA 1 NA 1 . CAGG . 2470.6 NA NA NA NA NA NA NA NA NA 31493214 ADAMTS12 81792 . GRCh38 chr5 33576359 33576359 + Missense_Mutation SNP T T C novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3667A>G p.Ser1223Gly p.S1223G ENST00000504830 19/24 NA NA NA NA NA NA ADAMTS12,missense_variant,p.Ser1223Gly,ENST00000504830,NM_030955.4;ADAMTS12,missense_variant,p.Ser1138Gly,ENST00000352040,NM_001324512.2;ADAMTS12,downstream_gene_variant,,ENST00000504582,; C ENSG00000151388 ENST00000504830 Transcript missense_variant 3801/8572 3667/4785 1223/1594 S/G Agc/Ggc 1 NA -1 ADAMTS12 HGNC HGNC:14605 protein_coding YES CCDS34140.1 ENSP00000422554 P58397.184 UPI000013DC51 NM_030955.4 tolerated(0.16) benign(0.024) 19/24 PANTHER:PTHR13723,PANTHER:PTHR13723:SF189 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CTG . 4299.6 NA NA NA NA NA NA NA NA NA 33576359 SLC45A2 51151 . GRCh38 chr5 33944674 33944674 + Missense_Mutation SNP C C T rs371334000 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1567G>A p.Ala523Thr p.A523T ENST00000296589 7/7 NA NA NA NA NA NA SLC45A2,missense_variant,p.Ala523Thr,ENST00000296589,NM_016180.5;SLC45A2,downstream_gene_variant,,ENST00000382102,NM_001012509.4;SLC45A2,downstream_gene_variant,,ENST00000510600,;,regulatory_region_variant,,ENSR00001093420,; T ENSG00000164175 ENST00000296589 Transcript missense_variant 1677/1728 1567/1593 523/530 A/T Gct/Act rs371334000 1 NA -1 SLC45A2 HGNC HGNC:16472 protein_coding YES CCDS3901.1 ENSP00000296589 Q9UMX9.166 A0A076YIB8.34 UPI00001AEC19 NM_016180.5 tolerated(0.28) possibly_damaging(0.658) 7/7 PANTHER:PTHR19432,PANTHER:PTHR19432:SF34,Superfamily:SSF103473,Transmembrane_helices:TMhelix NA NA NA NA NA NA NA NA 0.0001163 NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . GCG . 1915.6 5.572e-05 NA NA NA 5.437e-05 4.621e-05 0.0001056 NA NA 33944674 AMACR 23600 . GRCh38 chr5 34005857 34005857 + Missense_Mutation SNP C C G rs139273474 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.290G>C p.Arg97Pro p.R97P ENST00000382085 2/6 NA NA NA NA NA NA AMACR,missense_variant,p.Arg97Pro,ENST00000335606,NM_014324.6;AMACR,missense_variant,p.Arg97Pro,ENST00000382072,NM_203382.3;AMACR,missense_variant,p.Arg97Pro,ENST00000502637,;AMACR,missense_variant,p.Arg97Pro,ENST00000426255,;AMACR,missense_variant,p.Arg97Pro,ENST00000382085,NM_001167595.2;AMACR,missense_variant,p.Arg97Pro,ENST00000382068,;AMACR,missense_variant,p.Arg97Pro,ENST00000512079,;AMACR,non_coding_transcript_exon_variant,,ENST00000514195,;AMACR,missense_variant,p.Arg97Pro,ENST00000506639,;C1QTNF3-AMACR,synonymous_variant,p.Ala244=,ENST00000382079,; G ENSG00000242110 ENST00000382085 Transcript missense_variant 299/1195 290/1185 97/394 R/P cGg/cCg rs139273474 1 NA -1 AMACR HGNC HGNC:451 protein_coding YES CCDS54836.1 ENSP00000371517 Q9UHK6.174 UPI000020C93C NM_001167595.2 deleterious(0.03) benign(0.35) 2/6 Gene3D:3.40.50.10540,Pfam:PF02515,Superfamily:SSF89796 NA NA NA NA NA NA NA 0.000227 0.0003488 uncertain_significance NA NA NA NA MODERATE 1 SNV 1 NA 1 NA 1 . CCG . 1660.6 0.0001074 0.0002466 NA NA NA NA 0.0001934 0.000163 NA 34005857 OXCT1 5019 . GRCh38 chr5 41794048 41794048 + Silent SNP C C T rs781714285 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1203G>A p.Ala401= p.A401= ENST00000196371 13/17 NA NA NA NA NA NA OXCT1,synonymous_variant,p.Ala401=,ENST00000196371,NM_001364301.2,NM_001364302.2,NM_000436.4,NM_001364299.2,NM_001364300.2;OXCT1,synonymous_variant,p.Ala4=,ENST00000512084,;OXCT1,synonymous_variant,p.Ala215=,ENST00000509987,NM_001364303.1;OXCT1,synonymous_variant,p.Ala4=,ENST00000510634,;OXCT1,non_coding_transcript_exon_variant,,ENST00000513081,;OXCT1,intron_variant,,ENST00000514723,;OXCT1,non_coding_transcript_exon_variant,,ENST00000508557,;,regulatory_region_variant,,ENSR00000180072,; T ENSG00000083720 ENST00000196371 Transcript synonymous_variant 1270/3294 1203/1563 401/520 A gcG/gcA rs781714285,COSV52171569 1 NA -1 OXCT1 HGNC HGNC:8527 protein_coding YES CCDS3937.1 ENSP00000196371 P55809.185 A0A024R040.51 UPI0000000C9A NM_001364301.2,NM_001364302.2,NM_000436.4,NM_001364299.2,NM_001364300.2 13/17 PDB-ENSP_mappings:3dlx.A,PDB-ENSP_mappings:3dlx.B,PDB-ENSP_mappings:3dlx.C,PDB-ENSP_mappings:3dlx.D,PANTHER:PTHR13707:SF30,PANTHER:PTHR13707,Gene3D:3.40.1080.10,Pfam:PF01144,PIRSF:PIRSF000858,TIGRFAM:TIGR02428,SMART:SM00882,Superfamily:SSF100950 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA LOW 1 SNV 1 NA 0,1 NA 1 . TCG . 1137.6 3.977e-06 6.152e-05 NA NA NA NA NA NA NA 41794048 HCN1 348980 . GRCh38 chr5 45396544 45396544 + Missense_Mutation SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1178C>T p.Ala393Val p.A393V ENST00000303230 4/8 NA NA NA NA NA NA HCN1,missense_variant,p.Ala393Val,ENST00000673735,;HCN1,missense_variant,p.Ala393Val,ENST00000303230,NM_021072.4;HCN1,non_coding_transcript_exon_variant,,ENST00000637305,; A ENSG00000164588 ENST00000303230 Transcript missense_variant 1465/9933 1178/2673 393/890 A/V gCc/gTc 1 NA -1 HCN1 HGNC HGNC:4845 protein_coding YES CCDS3952.1 ENSP00000307342 O60741.163 UPI00001AED69 NM_021072.4 deleterious(0.01) benign(0.349) 4/8 Gene3D:1.10.287.70,PDB-ENSP_mappings:5u6o.A,PDB-ENSP_mappings:5u6o.B,PDB-ENSP_mappings:5u6o.C,PDB-ENSP_mappings:5u6o.D,PDB-ENSP_mappings:5u6p.A,PDB-ENSP_mappings:5u6p.B,PDB-ENSP_mappings:5u6p.C,PDB-ENSP_mappings:5u6p.D,PDB-ENSP_mappings:6uqf.A,PDB-ENSP_mappings:6uqf.B,PDB-ENSP_mappings:6uqf.C,PDB-ENSP_mappings:6uqf.D,PDB-ENSP_mappings:6uqg.A,PDB-ENSP_mappings:6uqg.B,PDB-ENSP_mappings:6uqg.C,PDB-ENSP_mappings:6uqg.D,Pfam:PF00520,Prints:PR01463,PANTHER:PTHR45689,PANTHER:PTHR45689:SF3,Superfamily:SSF81324,Transmembrane_helices:TMhelix NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . GGC . 3709.6 NA NA NA NA NA NA NA NA NA 45396544 HSPB3 8988 . GRCh38 chr5 54456090 54456090 + Missense_Mutation SNP G G A rs899435605 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.301G>A p.Gly101Arg p.G101R ENST00000302005 1/1 NA NA NA NA NA NA HSPB3,missense_variant,p.Gly101Arg,ENST00000302005,NM_006308.3;,regulatory_region_variant,,ENSR00000754906,; A ENSG00000169271 ENST00000302005 Transcript missense_variant 392/679 301/453 101/150 G/R Gga/Aga rs899435605,COSV100115926 1 NA 1 HSPB3 HGNC HGNC:5248 protein_coding YES CCDS3961.1 ENSP00000303394 Q12988.139 Q6ICS9.120 UPI000012CCD3 NM_006308.3 tolerated(0.11) probably_damaging(1) 1/1 PDB-ENSP_mappings:6f2r.Q,PDB-ENSP_mappings:6f2r.T,PDB-ENSP_mappings:6f2r.V,PROSITE_profiles:PS01031,CDD:cd06477,PANTHER:PTHR47097,Gene3D:2.60.40.790,Pfam:PF00011,Superfamily:SSF49764 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV NA NA 0,1 NA 1 . CGG . 3408.6 3.979e-06 NA NA NA NA NA NA NA 3.266e-05 54456090 MAP3K1 4214 . GRCh38 chr5 56864859 56864859 + Silent SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.960G>A p.Gln320= p.Q320= ENST00000399503 4/20 NA NA NA NA NA NA MAP3K1,synonymous_variant,p.Gln320=,ENST00000399503,NM_005921.2;AC008937.2,upstream_gene_variant,,ENST00000415589,; A ENSG00000095015 ENST00000399503 Transcript synonymous_variant 985/7036 960/4539 320/1512 Q caG/caA 1 NA 1 MAP3K1 HGNC HGNC:6848 protein_coding YES CCDS43318.1 ENSP00000382423 Q13233.197 UPI000015153B NM_005921.2 4/20 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . AGC . 1871.6 NA NA NA NA NA NA NA NA NA 56864859 MAP3K1 4214 . GRCh38 chr5 56888323 56888323 + Frame_Shift_Del DEL A A - novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4359del p.Lys1453AsnfsTer8 p.K1453Nfs*8 ENST00000399503 19/20 NA NA NA NA NA NA MAP3K1,frameshift_variant,p.Lys1453AsnfsTer8,ENST00000399503,NM_005921.2;MAP3K1,non_coding_transcript_exon_variant,,ENST00000469188,; - ENSG00000095015 ENST00000399503 Transcript frameshift_variant 4380/7036 4355/4539 1452/1512 E/X gAa/ga 1 NA 1 MAP3K1 HGNC HGNC:6848 protein_coding YES CCDS43318.1 ENSP00000382423 Q13233.197 UPI000015153B NM_005921.2 19/20 Gene3D:1.10.510.10,Pfam:PF00069,PROSITE_profiles:PS50011,PANTHER:PTHR24361,PANTHER:PTHR24361:SF414,SMART:SM00220,Superfamily:SSF56112,CDD:cd06630 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 4 NA 1 . AGAA . 2632.6 NA NA NA NA NA NA NA NA NA 56888322 MIER3 166968 . GRCh38 chr5 56946963 56946963 + Missense_Mutation SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.158G>A p.Gly53Asp p.G53D ENST00000381226 3/13 NA NA NA NA NA NA MIER3,missense_variant,p.Gly53Asp,ENST00000381226,NM_001297598.1;MIER3,missense_variant,p.Gly48Asp,ENST00000381199,NM_001297599.2;MIER3,missense_variant,p.Gly48Asp,ENST00000381213,NM_152622.4;MIER3,missense_variant,p.Gly21Asp,ENST00000336942,;MIER3,downstream_gene_variant,,ENST00000440000,;AC016644.1,intron_variant,,ENST00000438553,;MIER3,downstream_gene_variant,,ENST00000497185,;MIER3,downstream_gene_variant,,ENST00000546593,;MIER3,missense_variant,p.Gly48Asp,ENST00000452157,;MIER3,non_coding_transcript_exon_variant,,ENST00000480115,; T ENSG00000155545 ENST00000381226 Transcript missense_variant 174/5210 158/1668 53/555 G/D gGt/gAt 1 NA -1 MIER3 HGNC HGNC:26678 protein_coding YES CCDS78011.1 ENSP00000370624 Q7Z3K6.142 UPI000022C7A2 NM_001297598.1 tolerated(0.47) benign(0.23) 3/13 Coiled-coils_(Ncoils):Coil,PANTHER:PTHR10865,PANTHER:PTHR10865:SF22 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . ACC . 32.6 NA NA NA NA NA NA NA NA NA 56946963 ZSWIM6 57688 . GRCh38 chr5 61332748 61332762 + In_Frame_Del DEL CGGCCGCAACCTCGG CGGCCGCAACCTCGG - rs541338051 NA HCI-EC-23 NORMAL CGGCCGCAACCTCGG CGGCCGCAACCTCGG NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.492_506del p.Thr167_Ala171del p.T167_A171del ENST00000252744 1/14 NA NA NA NA NA NA ZSWIM6,inframe_deletion,p.Thr167_Ala171del,ENST00000252744,NM_020928.2;,regulatory_region_variant,,ENSR00000181391,; - ENSG00000130449 ENST00000252744 Transcript inframe_deletion 491-505/5518 476-490/3648 159-164/1215 PAATSA/P cCGGCCGCAACCTCGGcg/ccg rs541338051 1 NA 1 ZSWIM6 HGNC HGNC:29316 protein_coding YES CCDS47215.1 ENSP00000252744 Q9HCJ5.119 UPI0001837EA2 NM_020928.2 1/14 Low_complexity_(Seg):seg NA 0.4175 0.5476 NA 0.3909 0.5825 0.502 NA NA NA NA NA NA MODERATE 1 deletion 5 16 NA 1 . CCCGGCCGCAACCTCGGC . 288.01 NA NA NA NA NA NA NA NA NA 61332747 ZSWIM6 57688 . GRCh38 chr5 61521399 61521399 + Silent SNP C C A novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1470C>A p.Pro490= p.P490= ENST00000252744 5/14 NA NA NA NA NA NA ZSWIM6,synonymous_variant,p.Pro490=,ENST00000252744,NM_020928.2; A ENSG00000130449 ENST00000252744 Transcript synonymous_variant 1485/5518 1470/3648 490/1215 P ccC/ccA 1 NA 1 ZSWIM6 HGNC HGNC:29316 protein_coding YES CCDS47215.1 ENSP00000252744 Q9HCJ5.119 UPI0001837EA2 NM_020928.2 5/14 PANTHER:PTHR22619:SF3,PANTHER:PTHR22619 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA 1 . CCA . 1020.6 NA NA NA NA NA NA NA NA NA 61521399 TRIM23 373 . GRCh38 chr5 65609402 65609402 + Silent SNP T T C rs374508796 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.885A>G p.Leu295= p.L295= ENST00000231524 6/11 NA NA NA NA NA NA TRIM23,synonymous_variant,p.Leu295=,ENST00000231524,NM_001656.4;TRIM23,synonymous_variant,p.Leu295=,ENST00000381018,NM_033227.3;TRIM23,synonymous_variant,p.Leu295=,ENST00000274327,NM_033228.3;RNU6-540P,upstream_gene_variant,,ENST00000384622,;TRIM23,non_coding_transcript_exon_variant,,ENST00000508808,;TRIM23,downstream_gene_variant,,ENST00000505205,;TRIM23,downstream_gene_variant,,ENST00000506400,; C ENSG00000113595 ENST00000231524 Transcript synonymous_variant 944/3863 885/1725 295/574 L ctA/ctG rs374508796 1 NA -1 TRIM23 HGNC HGNC:660 protein_coding YES CCDS3987.1 ENSP00000231524 P36406.196 UPI0000125DB3 NM_001656.4 6/11 SMART:SM00502,PANTHER:PTHR11711,PANTHER:PTHR11711:SF163 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . GTA . 2558.6 NA NA NA NA NA NA NA NA NA 65609402 FCHO2 115548 . GRCh38 chr5 73078240 73078240 + Silent SNP A A T novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1908A>T p.Thr636= p.T636= ENST00000430046 22/26 NA NA NA NA NA NA FCHO2,synonymous_variant,p.Thr636=,ENST00000430046,NM_138782.3;FCHO2,synonymous_variant,p.Thr603=,ENST00000512348,NM_001146032.2;FCHO2,downstream_gene_variant,,ENST00000508431,; T ENSG00000157107 ENST00000430046 Transcript synonymous_variant 1964/4921 1908/2433 636/810 T acA/acT 1 NA 1 FCHO2 HGNC HGNC:25180 protein_coding YES CCDS47230.1 ENSP00000393776 Q0JRZ9.125 UPI000019971A NM_138782.3 22/26 Pfam:PF10291,PROSITE_profiles:PS51072,PANTHER:PTHR23065,PANTHER:PTHR23065:SF8,CDD:cd09267 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . CAG . 81.6 NA NA NA NA NA NA NA NA NA 73078240 FCHO2 115548 . GRCh38 chr5 73078241 73078241 + Missense_Mutation SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1909G>A p.Val637Ile p.V637I ENST00000430046 22/26 NA NA NA NA NA NA FCHO2,missense_variant,p.Val637Ile,ENST00000430046,NM_138782.3;FCHO2,missense_variant,p.Val604Ile,ENST00000512348,NM_001146032.2;FCHO2,downstream_gene_variant,,ENST00000508431,; A ENSG00000157107 ENST00000430046 Transcript missense_variant 1965/4921 1909/2433 637/810 V/I Gtc/Atc 1 NA 1 FCHO2 HGNC HGNC:25180 protein_coding YES CCDS47230.1 ENSP00000393776 Q0JRZ9.125 UPI000019971A NM_138782.3 tolerated(0.3) benign(0.005) 22/26 Pfam:PF10291,PROSITE_profiles:PS51072,PANTHER:PTHR23065,PANTHER:PTHR23065:SF8,CDD:cd09267 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . AGT . 81.6 NA NA NA NA NA NA NA NA NA 73078241 FCHO2 115548 . GRCh38 chr5 73078258 73078258 + Silent SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1926G>A p.Leu642= p.L642= ENST00000430046 22/26 NA NA NA NA NA NA FCHO2,synonymous_variant,p.Leu642=,ENST00000430046,NM_138782.3;FCHO2,synonymous_variant,p.Leu609=,ENST00000512348,NM_001146032.2;FCHO2,downstream_gene_variant,,ENST00000508431,; A ENSG00000157107 ENST00000430046 Transcript synonymous_variant 1982/4921 1926/2433 642/810 L ctG/ctA 1 NA 1 FCHO2 HGNC HGNC:25180 protein_coding YES CCDS47230.1 ENSP00000393776 Q0JRZ9.125 UPI000019971A NM_138782.3 22/26 Pfam:PF10291,PROSITE_profiles:PS51072,PANTHER:PTHR23065,PANTHER:PTHR23065:SF8,CDD:cd09267 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . TGT . 58.6 NA NA NA NA NA NA NA NA NA 73078258 FCHO2 115548 . GRCh38 chr5 73078264 73078264 + Silent SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1932G>A p.Glu644= p.E644= ENST00000430046 22/26 NA NA NA NA NA NA FCHO2,synonymous_variant,p.Glu644=,ENST00000430046,NM_138782.3;FCHO2,synonymous_variant,p.Glu611=,ENST00000512348,NM_001146032.2;FCHO2,downstream_gene_variant,,ENST00000508431,; A ENSG00000157107 ENST00000430046 Transcript synonymous_variant 1988/4921 1932/2433 644/810 E gaG/gaA 1 NA 1 FCHO2 HGNC HGNC:25180 protein_coding YES CCDS47230.1 ENSP00000393776 Q0JRZ9.125 UPI000019971A NM_138782.3 22/26 Pfam:PF10291,PROSITE_profiles:PS51072,PANTHER:PTHR23065,PANTHER:PTHR23065:SF8,CDD:cd09267 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . AGC . 33.6 NA NA NA NA NA NA NA NA NA 73078264 FCHO2 115548 . GRCh38 chr5 73078306 73078306 + Silent SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1974G>A p.Lys658= p.K658= ENST00000430046 22/26 NA NA NA NA NA NA FCHO2,synonymous_variant,p.Lys658=,ENST00000430046,NM_138782.3;FCHO2,synonymous_variant,p.Lys625=,ENST00000512348,NM_001146032.2;FCHO2,downstream_gene_variant,,ENST00000508431,; A ENSG00000157107 ENST00000430046 Transcript synonymous_variant 2030/4921 1974/2433 658/810 K aaG/aaA 1 NA 1 FCHO2 HGNC HGNC:25180 protein_coding YES CCDS47230.1 ENSP00000393776 Q0JRZ9.125 UPI000019971A NM_138782.3 22/26 Pfam:PF10291,PROSITE_profiles:PS51072,PANTHER:PTHR23065,PANTHER:PTHR23065:SF8,CDD:cd09267 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . AGT . 31.6 NA NA NA NA NA NA NA NA NA 73078306 FCHO2 115548 . GRCh38 chr5 73078309 73078309 + Silent SNP T T C novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1977T>C p.Tyr659= p.Y659= ENST00000430046 22/26 NA NA NA NA NA NA FCHO2,synonymous_variant,p.Tyr659=,ENST00000430046,NM_138782.3;FCHO2,synonymous_variant,p.Tyr626=,ENST00000512348,NM_001146032.2;FCHO2,downstream_gene_variant,,ENST00000508431,; C ENSG00000157107 ENST00000430046 Transcript synonymous_variant 2033/4921 1977/2433 659/810 Y taT/taC 1 NA 1 FCHO2 HGNC HGNC:25180 protein_coding YES CCDS47230.1 ENSP00000393776 Q0JRZ9.125 UPI000019971A NM_138782.3 22/26 Pfam:PF10291,PROSITE_profiles:PS51072,PANTHER:PTHR23065,PANTHER:PTHR23065:SF8,CDD:cd09267 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . ATC . 31.6 NA NA NA NA NA NA NA NA NA 73078309 TMEM174 134288 . GRCh38 chr5 73173637 73173637 + Missense_Mutation SNP C C A novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.394C>A p.His132Asn p.H132N ENST00000296776 1/2 NA NA NA NA NA NA TMEM174,missense_variant,p.His132Asn,ENST00000296776,NM_153217.3;TMEM174,non_coding_transcript_exon_variant,,ENST00000511737,; A ENSG00000164325 ENST00000296776 Transcript missense_variant 445/1761 394/732 132/243 H/N Cat/Aat 1 NA 1 TMEM174 HGNC HGNC:28187 protein_coding YES CCDS4018.1 ENSP00000296776 Q8WUU8.111 A0A024RAN0.27 UPI0000037779 NM_153217.3 deleterious(0.01) possibly_damaging(0.9) 1/2 PANTHER:PTHR31020,Pfam:PF15029 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CCA . 4036.6 NA NA NA NA NA NA NA NA NA 73173637 GFM2 84340 . GRCh38 chr5 74726001 74726001 + Missense_Mutation SNP C C A novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1852G>T p.Gly618Cys p.G618C ENST00000509430 19/22 NA NA NA NA NA NA GFM2,missense_variant,p.Gly618Cys,ENST00000509430,NM_001281302.2;GFM2,missense_variant,p.Gly618Cys,ENST00000296805,NM_032380.5;GFM2,missense_variant,p.Gly571Cys,ENST00000345239,NM_170691.3;HEXB,downstream_gene_variant,,ENST00000261416,NM_000521.4;HEXB,downstream_gene_variant,,ENST00000509579,;HEXB,downstream_gene_variant,,ENST00000511181,NM_001292004.1;HEXB,downstream_gene_variant,,ENST00000513336,;RNU6-658P,upstream_gene_variant,,ENST00000384606,;GFM2,non_coding_transcript_exon_variant,,ENST00000515125,;GFM2,non_coding_transcript_exon_variant,,ENST00000514734,;HEXB,downstream_gene_variant,,ENST00000513539,;HEXB,downstream_gene_variant,,ENST00000503312,;HEXB,downstream_gene_variant,,ENST00000505859,;GFM2,downstream_gene_variant,,ENST00000506263,;HEXB,downstream_gene_variant,,ENST00000513867,; A ENSG00000164347 ENST00000509430 Transcript missense_variant 2162/3047 1852/2340 618/779 G/C Ggc/Tgc 1 NA -1 GFM2 HGNC HGNC:29682 protein_coding YES CCDS4023.1 ENSP00000427004 Q969S9.167 A0A024RAK1.54 UPI0000129CA7 NM_001281302.2 tolerated(0.05) benign(0.035) 19/22 CDD:cd01693,Pfam:PF03764,Gene3D:3.30.230.10,SMART:SM00889,Superfamily:SSF54211,HAMAP:MF_03059,PANTHER:PTHR43261:SF1,PANTHER:PTHR43261 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . CCT . 1696.6 NA NA NA NA NA NA NA NA NA 74726001 FAM169A 26049 . GRCh38 chr5 74813861 74813861 + Missense_Mutation SNP G G T novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.649C>A p.Leu217Met p.L217M ENST00000389156 6/13 NA NA NA NA NA NA FAM169A,missense_variant,p.Leu217Met,ENST00000389156,NM_015566.3,NM_001376054.1,NM_001376053.1,NM_001376049.1,NM_001376052.1,NM_001376051.1,NM_001376050.1;FAM169A,missense_variant,p.Leu217Met,ENST00000513277,;FAM169A,intron_variant,,ENST00000510496,;FAM169A,downstream_gene_variant,,ENST00000514200,;FAM169A,3_prime_UTR_variant,,ENST00000514215,;FAM169A,3_prime_UTR_variant,,ENST00000510609,; T ENSG00000198780 ENST00000389156 Transcript missense_variant 868/6118 649/2013 217/670 L/M Ctg/Atg 1 NA -1 FAM169A HGNC HGNC:29138 protein_coding YES CCDS43330.1 ENSP00000373808 Q9Y6X4.123 UPI000013E38E NM_015566.3,NM_001376054.1,NM_001376053.1,NM_001376049.1,NM_001376052.1,NM_001376051.1,NM_001376050.1 tolerated(0.05) possibly_damaging(0.89) 6/13 PANTHER:PTHR22442,PANTHER:PTHR22442:SF3 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . AGT . 1748.6 NA NA NA NA NA NA NA NA NA 74813861 POC5 134359 . GRCh38 chr5 75689072 75689072 + Silent SNP T T G novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1069A>C p.Arg357= p.R357= ENST00000428202 9/12 NA NA NA NA NA NA POC5,synonymous_variant,p.Arg357=,ENST00000428202,NM_001099271.2;POC5,synonymous_variant,p.Arg329=,ENST00000514838,;POC5,synonymous_variant,p.Arg332=,ENST00000446329,NM_152408.2;POC5,synonymous_variant,p.Arg240=,ENST00000510798,;POC5,downstream_gene_variant,,ENST00000503835,;POC5,downstream_gene_variant,,ENST00000357564,;POC5,upstream_gene_variant,,ENST00000503521,; G ENSG00000152359 ENST00000428202 Transcript synonymous_variant 1215/2185 1069/1728 357/575 R Agg/Cgg 1 NA -1 POC5 HGNC HGNC:26658 protein_coding YES CCDS47236.1 ENSP00000410216 Q8NA72.121 UPI000020CB20 NM_001099271.2 9/12 PANTHER:PTHR28618 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . CTC . 1064.6 NA NA NA NA NA NA NA NA NA 75689072 DMGDH 29958 . GRCh38 chr5 79051378 79051378 + Silent SNP T T C NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.654A>G p.Pro218= p.P218= ENST00000255189 5/16 NA NA NA NA NA NA DMGDH,synonymous_variant,p.Pro218=,ENST00000255189,NM_013391.3;DMGDH,synonymous_variant,p.Pro57=,ENST00000523732,;DMGDH,downstream_gene_variant,,ENST00000520388,;DMGDH,3_prime_UTR_variant,,ENST00000524206,;DMGDH,intron_variant,,ENST00000517853,;DMGDH,intron_variant,,ENST00000518477,;DMGDH,intron_variant,,ENST00000521052,; C ENSG00000132837 ENST00000255189 Transcript synonymous_variant 708/3173 654/2601 218/866 P ccA/ccG COSV99668965 1 NA -1 DMGDH HGNC HGNC:24475 protein_coding YES CCDS4044.1 ENSP00000255189 Q9UI17.171 UPI000013CE96 NM_013391.3 5/16 PDB-ENSP_mappings:5l46.A,PDB-ENSP_mappings:5l46.B,PANTHER:PTHR13847,PANTHER:PTHR13847:SF187,Gene3D:3.50.50.60,Gene3D:3.30.9.10,Pfam:PF01266,Superfamily:SSF51905 NA NA NA NA NA NA NA NA NA 1 NA NA NA NA LOW 1 SNV 1 NA 1 NA 1 . CTG . 2612.6 NA NA NA NA NA NA NA NA NA 79051378 MSH3 4437 . GRCh38 chr5 80675096 80675096 + Frame_Shift_Del DEL A A - rs587776701 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1148del p.Lys383ArgfsTer32 p.K383Rfs*32 ENST00000265081 7/24 NA NA NA NA NA NA MSH3,frameshift_variant,p.Lys383ArgfsTer32,ENST00000265081,NM_002439.5;MSH3,frameshift_variant,p.Lys383ArgfsTer32,ENST00000667069,;MSH3,frameshift_variant,p.Lys327ArgfsTer32,ENST00000658259,;MSH3,frameshift_variant,p.Lys383ArgfsTer32,ENST00000670357,; - ENSG00000113318 ENST00000265081 Transcript frameshift_variant 1217/4443 1141/3414 381/1137 K/X Aaa/aa rs587776701 1 NA 1 MSH3 HGNC HGNC:7326 protein_coding YES CCDS34195.1 ENSP00000265081 P20585.189 UPI0000DBEE85 NM_002439.5 7/24 PDB-ENSP_mappings:3thw.B,PDB-ENSP_mappings:3thx.B,PDB-ENSP_mappings:3thy.B,PDB-ENSP_mappings:3thz.B,PANTHER:PTHR11361,PANTHER:PTHR11361:SF122,Pfam:PF05188,Gene3D:3.30.420.110,Superfamily:SSF53150 NA NA NA NA NA NA NA NA NA pathogenic 8782829 NA NA NA NA HIGH 1 deletion 1 7 1 NA 1 . ACAA . 987.6 1.209e-05 NA NA NA NA NA 2.668e-05 NA NA 80675095 MSH3 4437 . GRCh38 chr5 80813646 80813646 + Frame_Shift_Del DEL A A - novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2721del p.Lys907AsnfsTer5 p.K907Nfs*5 ENST00000265081 20/24 NA NA NA NA NA NA MSH3,frameshift_variant,p.Lys907AsnfsTer5,ENST00000265081,NM_002439.5;MSH3,frameshift_variant,p.Lys842AsnfsTer5,ENST00000667069,;MSH3,frameshift_variant,p.Lys851AsnfsTer5,ENST00000658259,;MSH3,frameshift_variant,p.Lys907AsnfsTer5,ENST00000670357,;MSH3,frameshift_variant,p.Lys9AsnfsTer5,ENST00000659302,; - ENSG00000113318 ENST00000265081 Transcript frameshift_variant 2794/4443 2718/3414 906/1137 I/X atA/at 1 NA 1 MSH3 HGNC HGNC:7326 protein_coding YES CCDS34195.1 ENSP00000265081 P20585.189 UPI0000DBEE85 NM_002439.5 20/24 PDB-ENSP_mappings:3thw.B,PDB-ENSP_mappings:3thx.B,PDB-ENSP_mappings:3thy.B,PDB-ENSP_mappings:3thz.B,PANTHER:PTHR11361,PANTHER:PTHR11361:SF122,Pfam:PF00488,Gene3D:3.40.50.300,SMART:SM00534,Superfamily:SSF52540 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 3 NA 1 . ATAA . 3291.6 NA NA NA NA NA NA NA NA NA 80813645 SSBP2 23635 . GRCh38 chr5 81442658 81442658 + Missense_Mutation SNP G G T novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.868C>A p.Pro290Thr p.P290T ENST00000615665 13/17 NA NA NA NA NA NA SSBP2,missense_variant,p.Pro282Thr,ENST00000320672,NM_012446.4;SSBP2,missense_variant,p.Pro290Thr,ENST00000615665,NM_001345886.1,NM_001256732.2;SSBP2,missense_variant,p.Pro252Thr,ENST00000514493,NM_001256735.2;SSBP2,missense_variant,p.Pro252Thr,ENST00000509053,NM_001256736.2;SSBP2,missense_variant,p.Pro262Thr,ENST00000505980,NM_001256733.2;SSBP2,missense_variant,p.Pro260Thr,ENST00000515395,NM_001256734.2;SSBP2,missense_variant,p.Pro196Thr,ENST00000504985,;SSBP2,missense_variant,p.Pro188Thr,ENST00000512923,;SSBP2,non_coding_transcript_exon_variant,,ENST00000510060,;SSBP2,non_coding_transcript_exon_variant,,ENST00000509743,;SSBP2,downstream_gene_variant,,ENST00000507655,;SSBP2,non_coding_transcript_exon_variant,,ENST00000504136,;SSBP2,upstream_gene_variant,,ENST00000513785,; T ENSG00000145687 ENST00000615665 Transcript missense_variant 1079/4465 868/1110 290/369 P/T Cct/Act 1 NA -1 SSBP2 HGNC HGNC:15831 protein_coding YES CCDS75268.1 ENSP00000483921 A0A087X159.47 UPI000020CBDE NM_001345886.1,NM_001256732.2 tolerated(0.1) benign(0.407) 13/17 Pfam:PF04503,PANTHER:PTHR12610,PANTHER:PTHR12610:SF23 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . GGT . 52.6 NA NA NA NA NA NA NA NA NA 81442658 SSBP2 23635 . GRCh38 chr5 81442668 81442668 + Silent SNP T T C novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.858A>G p.Gly286= p.G286= ENST00000615665 13/17 NA NA NA NA NA NA SSBP2,synonymous_variant,p.Gly278=,ENST00000320672,NM_012446.4;SSBP2,synonymous_variant,p.Gly286=,ENST00000615665,NM_001345886.1,NM_001256732.2;SSBP2,synonymous_variant,p.Gly248=,ENST00000514493,NM_001256735.2;SSBP2,synonymous_variant,p.Gly248=,ENST00000509053,NM_001256736.2;SSBP2,synonymous_variant,p.Gly258=,ENST00000505980,NM_001256733.2;SSBP2,synonymous_variant,p.Gly256=,ENST00000515395,NM_001256734.2;SSBP2,synonymous_variant,p.Gly192=,ENST00000504985,;SSBP2,synonymous_variant,p.Gly184=,ENST00000512923,;SSBP2,non_coding_transcript_exon_variant,,ENST00000510060,;SSBP2,non_coding_transcript_exon_variant,,ENST00000509743,;SSBP2,downstream_gene_variant,,ENST00000507655,;SSBP2,non_coding_transcript_exon_variant,,ENST00000504136,;SSBP2,upstream_gene_variant,,ENST00000513785,; C ENSG00000145687 ENST00000615665 Transcript synonymous_variant 1069/4465 858/1110 286/369 G ggA/ggG 1 NA -1 SSBP2 HGNC HGNC:15831 protein_coding YES CCDS75268.1 ENSP00000483921 A0A087X159.47 UPI000020CBDE NM_001345886.1,NM_001256732.2 13/17 Pfam:PF04503,PANTHER:PTHR12610,PANTHER:PTHR12610:SF23 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . GTC . 46.6 NA NA NA NA NA NA NA NA NA 81442668 KIAA0825 285600 . GRCh38 chr5 94453015 94453015 + Frame_Shift_Del DEL A A - novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2301del p.Phe767LeufsTer27 p.F767Lfs*27 ENST00000513200 12/20 NA NA NA NA NA NA KIAA0825,frameshift_variant,p.Phe767LeufsTer27,ENST00000513200,NM_001145678.2;KIAA0825,non_coding_transcript_exon_variant,,ENST00000504117,; - ENSG00000185261 ENST00000513200 Transcript frameshift_variant 2374/4942 2301/3828 767/1275 F/X ttT/tt 1 NA -1 KIAA0825 HGNC HGNC:28532 protein_coding YES ENSP00000424618 Q8IV33.120 UPI0001D3B505 NM_001145678.2 12/20 Pfam:PF14906,PANTHER:PTHR33960 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 5 NA NA 1 . TTAA . 1203.6 NA NA NA NA NA NA NA NA NA 94453014 SPATA9 83890 . GRCh38 chr5 95658792 95658792 + Missense_Mutation SNP G G A rs763706037 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.596C>T p.Ser199Leu p.S199L ENST00000274432 5/5 NA NA NA NA NA NA SPATA9,missense_variant,p.Ser199Leu,ENST00000274432,NM_001349303.2,NM_031952.4;RFESD,downstream_gene_variant,,ENST00000311364,NM_001375394.1,NM_173362.3;RFESD,downstream_gene_variant,,ENST00000380005,NM_001131066.2;RFESD,downstream_gene_variant,,ENST00000458310,NM_001131065.1;RFESD,downstream_gene_variant,,ENST00000511684,;RFESD,downstream_gene_variant,,ENST00000513950,;SPATA9,non_coding_transcript_exon_variant,,ENST00000477047,;SPATA9,non_coding_transcript_exon_variant,,ENST00000379990,;RFESD,intron_variant,,ENST00000508206,;SPATA9,missense_variant,p.Ser123Leu,ENST00000477715,;SPATA9,missense_variant,p.Ser199Leu,ENST00000316087,;SPATA9,3_prime_UTR_variant,,ENST00000489917,; A ENSG00000145757 ENST00000274432 Transcript missense_variant 733/1210 596/765 199/254 S/L tCg/tTg rs763706037 1 NA -1 SPATA9 HGNC HGNC:22988 protein_coding YES CCDS4076.1 ENSP00000274432 Q9BWV2.109 A0A140VJV2.29 UPI000000DBD8 NM_001349303.2,NM_031952.4 tolerated_low_confidence(0.2) benign(0.005) 5/5 Pfam:PF15824,PANTHER:PTHR35669 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CGA . 3971.6 7.966e-06 NA 2.895e-05 NA NA NA 8.814e-06 NA NA 95658792 SPATA9 83890 . GRCh38 chr5 95675493 95675493 + Nonsense_Mutation SNP G G T rs778365308 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.297C>A p.Cys99Ter p.C99* ENST00000274432 3/5 NA NA NA NA NA NA SPATA9,stop_gained,p.Cys99Ter,ENST00000274432,NM_001349303.2,NM_031952.4;SPATA9,non_coding_transcript_exon_variant,,ENST00000477047,;SPATA9,intron_variant,,ENST00000379990,;RFESD,intron_variant,,ENST00000508206,;SPATA9,stop_gained,p.Cys99Ter,ENST00000316087,;SPATA9,stop_gained,p.Cys99Ter,ENST00000489917,;SPATA9,intron_variant,,ENST00000477715,; T ENSG00000145757 ENST00000274432 Transcript stop_gained 434/1210 297/765 99/254 C/* tgC/tgA rs778365308 1 NA -1 SPATA9 HGNC HGNC:22988 protein_coding YES CCDS4076.1 ENSP00000274432 Q9BWV2.109 A0A140VJV2.29 UPI000000DBD8 NM_001349303.2,NM_031952.4 3/5 Pfam:PF15824,PANTHER:PTHR35669 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 SNV 1 NA NA NA . TGC . 5626.6 3.977e-06 NA NA NA NA NA 8.792e-06 NA NA 95675493 RHOBTB3 22836 . GRCh38 chr5 95752350 95752350 + Nonsense_Mutation SNP G G T NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.682G>T p.Glu228Ter p.E228* ENST00000379982 5/12 NA NA NA NA NA NA RHOBTB3,stop_gained,p.Glu228Ter,ENST00000379982,NM_014899.4;GLRX,intron_variant,,ENST00000508780,;RHOBTB3,downstream_gene_variant,,ENST00000506959,;RHOBTB3,splice_region_variant,,ENST00000504949,;RHOBTB3,intron_variant,,ENST00000502541,;RHOBTB3,downstream_gene_variant,,ENST00000510623,; T ENSG00000164292 ENST00000379982 Transcript stop_gained,splice_region_variant 1029/5370 682/1836 228/611 E/* Gaa/Taa COSV66102284 1 NA 1 RHOBTB3 HGNC HGNC:18757 protein_coding YES CCDS4077.1 ENSP00000369318 O94955.160 UPI0000367303 NM_014899.4 5/12 Gene3D:3.30.710.10,PANTHER:PTHR24072,PANTHER:PTHR24072:SF139 NA NA NA NA NA NA NA NA NA 1 NA NA NA NA HIGH 1 SNV 1 NA 1 NA NA . AGG . 1477.6 NA NA NA NA NA NA NA NA NA 95752350 CHD1 1105 . GRCh38 chr5 98869789 98869791 + In_Frame_Del DEL GAG GAG - rs748483198 NA HCI-EC-23 NORMAL GAG GAG NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4070_4072del p.Pro1357del p.P1357del ENST00000614616 30/36 NA NA NA NA NA NA CHD1,inframe_deletion,p.Pro1357del,ENST00000614616,NM_001376194.2,NM_001270.4,NM_001364113.3;CHD1,inframe_deletion,p.Pro1357del,ENST00000284049,;CHD1,inframe_deletion,p.Pro66del,ENST00000511067,;CHD1,non_coding_transcript_exon_variant,,ENST00000514344,;CHD1,non_coding_transcript_exon_variant,,ENST00000508756,;CHD1,non_coding_transcript_exon_variant,,ENST00000414220,;CHD1,upstream_gene_variant,,ENST00000505657,;CHD1,upstream_gene_variant,,ENST00000512844,; - ENSG00000153922 ENST00000614616 Transcript inframe_deletion 4687-4689/8145 4070-4072/5133 1357-1358/1710 PL/L cCTCtg/ctg rs748483198 1 NA -1 CHD1 HGNC HGNC:1915 protein_coding YES CCDS34204.1 ENSP00000483667 O14646.193 UPI000013DD75 NM_001376194.2,NM_001270.4,NM_001364113.3 30/36 PANTHER:PTHR45623,PANTHER:PTHR45623:SF7,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 deletion 5 NA NA 1 . CAGAGG . 220.6 3.585e-05 NA NA NA NA NA 7.048e-05 NA 3.271e-05 98869788 EFNA5 1946 . GRCh38 chr5 107427423 107427423 + Missense_Mutation SNP T T C novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.212A>G p.Glu71Gly p.E71G ENST00000333274 2/5 NA NA NA NA NA NA EFNA5,missense_variant,p.Glu71Gly,ENST00000333274,NM_001962.3;EFNA5,missense_variant,p.Glu31Gly,ENST00000611503,;EFNA5,missense_variant,p.Glu71Gly,ENST00000509503,;EFNA5,non_coding_transcript_exon_variant,,ENST00000505499,;EFNA5,non_coding_transcript_exon_variant,,ENST00000504941,; C ENSG00000184349 ENST00000333274 Transcript missense_variant 536/5372 212/687 71/228 E/G gAa/gGa 1 NA -1 EFNA5 HGNC HGNC:3225 protein_coding YES CCDS4097.1 ENSP00000328777 P52803.163 UPI0000129C93 NM_001962.3 tolerated(0.25) benign(0.015) 2/5 PDB-ENSP_mappings:2x11.B,PDB-ENSP_mappings:3mx0.B,PDB-ENSP_mappings:3mx0.D,PDB-ENSP_mappings:4bk5.C,PDB-ENSP_mappings:4bka.C,PDB-ENSP_mappings:4l0p.B,PDB-ENSP_mappings:4m4r.B,PDB-ENSP_mappings:4m4r.D,PDB-ENSP_mappings:4m4r.F,PDB-ENSP_mappings:4m4r.H,PROSITE_profiles:PS51551,CDD:cd10425,PANTHER:PTHR11304,PANTHER:PTHR11304:SF33,Pfam:PF00812,Gene3D:2.60.40.420,Superfamily:SSF49503 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . TTC . 1689.6 NA NA NA NA NA NA NA NA NA 107427423 ZNF608 57507 . GRCh38 chr5 124701178 124701178 + Nonsense_Mutation SNP G G T novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.998C>A p.Ser333Ter p.S333* ENST00000306315 2/9 NA NA NA NA NA NA ZNF608,stop_gained,p.Ser333Ter,ENST00000306315,NM_020747.2;ZNF608,stop_gained,p.Ser333Ter,ENST00000613878,;ZNF608,stop_gained,p.Ser333Ter,ENST00000513986,;ZNF608,stop_gained,p.Ser333Ter,ENST00000509799,;ZNF608,5_prime_UTR_variant,,ENST00000504926,;ZNF608,non_coding_transcript_exon_variant,,ENST00000503896,;ZNF608,non_coding_transcript_exon_variant,,ENST00000511308,;ZNF608,stop_gained,p.Ser333Ter,ENST00000505686,; T ENSG00000168916 ENST00000306315 Transcript stop_gained 1434/5958 998/4539 333/1512 S/* tCa/tAa 1 NA -1 ZNF608 HGNC HGNC:29238 protein_coding YES CCDS34219.1 ENSP00000307746 Q9ULD9.130 UPI000013EB23 NM_020747.2 2/9 PANTHER:PTHR21564,PANTHER:PTHR21564:SF4 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 SNV 1 NA NA NA . TGA . 1347.6 NA NA NA NA NA NA NA NA NA 124701178 ALDH7A1 501 . GRCh38 chr5 126552033 126552033 + Silent SNP G G C rs142975776 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1350C>G p.Val450= p.V450= ENST00000636879 15/19 NA NA NA NA NA NA ALDH7A1,synonymous_variant,p.Val435=,ENST00000409134,NM_001182.5,NM_001201377.2;ALDH7A1,synonymous_variant,p.Val432=,ENST00000637272,;ALDH7A1,synonymous_variant,p.Val450=,ENST00000636879,;ALDH7A1,synonymous_variant,p.Val375=,ENST00000637206,;ALDH7A1,synonymous_variant,p.Val395=,ENST00000636743,;ALDH7A1,synonymous_variant,p.Val368=,ENST00000636886,;ALDH7A1,synonymous_variant,p.Val435=,ENST00000635851,;ALDH7A1,synonymous_variant,p.Val371=,ENST00000553117,NM_001202404.2;ALDH7A1,synonymous_variant,p.Val435=,ENST00000637782,;ALDH7A1,downstream_gene_variant,,ENST00000637964,;RNU6-290P,downstream_gene_variant,,ENST00000365212,;ALDH7A1,non_coding_transcript_exon_variant,,ENST00000636286,;ALDH7A1,3_prime_UTR_variant,,ENST00000636872,;ALDH7A1,3_prime_UTR_variant,,ENST00000636808,;ALDH7A1,3_prime_UTR_variant,,ENST00000458249,;ALDH7A1,3_prime_UTR_variant,,ENST00000638008,;ALDH7A1,3_prime_UTR_variant,,ENST00000636225,;ALDH7A1,3_prime_UTR_variant,,ENST00000503281,;ALDH7A1,non_coding_transcript_exon_variant,,ENST00000497231,;ALDH7A1,non_coding_transcript_exon_variant,,ENST00000636062,;ALDH7A1,non_coding_transcript_exon_variant,,ENST00000638010,;ALDH7A1,non_coding_transcript_exon_variant,,ENST00000636482,;ALDH7A1,non_coding_transcript_exon_variant,,ENST00000476328,;ALDH7A1,intron_variant,,ENST00000637292,;ALDH7A1,upstream_gene_variant,,ENST00000485852,;ALDH7A1,downstream_gene_variant,,ENST00000509459,; C ENSG00000164904 ENST00000636879 Transcript synonymous_variant 1371/2501 1350/1665 450/554 V gtC/gtG rs142975776 1 NA -1 ALDH7A1 HGNC HGNC:877 protein_coding YES ENSP00000490811 A0A1B0GW77.24 UPI0007E52BDC 15/19 CDD:cd07130,PANTHER:PTHR43521:SF5,PANTHER:PTHR43521,Gene3D:3.40.605.10,Gene3D:3.40.309.10,Pfam:PF00171,Superfamily:SSF53720 NA NA NA NA NA NA NA NA 0.0001163 likely_benign,benign NA NA NA NA LOW 1 SNV 5 NA 1 NA 1 . AGA . 1057.6 7.963e-05 NA 8.681e-05 NA NA NA 0.0001497 NA NA 126552033 LMNB1 4001 . GRCh38 chr5 126820938 126820938 + Missense_Mutation SNP C C T rs1330787318 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1189C>T p.Arg397Cys p.R397C ENST00000261366 7/11 NA NA NA NA NA NA LMNB1,missense_variant,p.Arg397Cys,ENST00000261366,NM_005573.4,NM_001198557.2;LMNB1,downstream_gene_variant,,ENST00000395354,;LMNB1,non_coding_transcript_exon_variant,,ENST00000504788,;LMNB1,downstream_gene_variant,,ENST00000472034,;LMNB1,3_prime_UTR_variant,,ENST00000460265,;LMNB1,non_coding_transcript_exon_variant,,ENST00000494185,; T ENSG00000113368 ENST00000261366 Transcript missense_variant 1562/2890 1189/1761 397/586 R/C Cgt/Tgt rs1330787318,COSV99745623 1 NA 1 LMNB1 HGNC HGNC:6637 protein_coding YES CCDS4140.1 ENSP00000261366 P20700.210 UPI000013D170 NM_005573.4,NM_001198557.2 deleterious(0) possibly_damaging(0.759) 7/11 PDB-ENSP_mappings:5vvx.B,PDB-ENSP_mappings:5vvx.D,Low_complexity_(Seg):seg,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite,PANTHER:PTHR45721,PANTHER:PTHR45721:SF3 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 1 NA 0,1 NA 1 . CCG . 8654.6 NA NA NA NA NA NA NA NA NA 126820938 SLC12A2 6558 . GRCh38 chr5 128158091 128158091 + Missense_Mutation SNP G G A rs142105778 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2402G>A p.Arg801His p.R801H ENST00000262461 16/27 NA NA NA NA NA NA SLC12A2,missense_variant,p.Arg801His,ENST00000262461,NM_001046.3;SLC12A2,missense_variant,p.Arg801His,ENST00000343225,NM_001256461.2;SLC12A2,missense_variant,p.Arg801His,ENST00000628403,;SLC12A2,missense_variant,p.Arg801His,ENST00000509205,;SLC12A2,non_coding_transcript_exon_variant,,ENST00000504416,;SLC12A2,non_coding_transcript_exon_variant,,ENST00000509616,; A ENSG00000064651 ENST00000262461 Transcript missense_variant 2591/6874 2402/3639 801/1212 R/H cGt/cAt rs142105778 1 NA 1 SLC12A2 HGNC HGNC:10911 protein_coding YES CCDS4144.1 ENSP00000262461 P55011.183 Q53ZR1.130 UPI000013541A NM_001046.3 deleterious(0) probably_damaging(0.998) 16/27 PDB-ENSP_mappings:6pzt.A,PDB-ENSP_mappings:6pzt.B,Pfam:PF03522,PANTHER:PTHR11827,PANTHER:PTHR11827:SF58,TIGRFAM:TIGR00930 NA NA NA NA NA NA NA NA 0.0001163 NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CGT . 1694.6 7.973e-06 NA NA NA NA NA 1.764e-05 NA NA 128158091 RAPGEF6 51735 . GRCh38 chr5 131429020 131429020 + Silent SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4686C>T p.Leu1562= p.L1562= ENST00000296859 28/29 NA NA NA NA NA NA RAPGEF6,synonymous_variant,p.Leu1554=,ENST00000509018,NM_016340.6;RAPGEF6,synonymous_variant,p.Leu1220=,ENST00000671916,;AC008695.1,synonymous_variant,p.Leu1604=,ENST00000514667,;RAPGEF6,synonymous_variant,p.Leu1562=,ENST00000296859,NM_001164386.2;RAPGEF6,intron_variant,,ENST00000507093,NM_001164387.2;RAPGEF6,intron_variant,,ENST00000627212,NM_001164388.2;RAPGEF6,non_coding_transcript_exon_variant,,ENST00000512611,; A ENSG00000158987 ENST00000296859 Transcript synonymous_variant 4767/5618 4686/4830 1562/1609 L ctC/ctT 1 NA -1 RAPGEF6 HGNC HGNC:20655 protein_coding YES CCDS54900.1 ENSP00000296859 UPI000189A836 NM_001164386.2 28/29 Low_complexity_(Seg):seg,PANTHER:PTHR23113,PANTHER:PTHR23113:SF222 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . TGA . 5737.6 NA NA NA NA NA NA NA NA NA 131429020 RAPGEF6 51735 . GRCh38 chr5 131505419 131505419 + Missense_Mutation SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1046C>T p.Thr349Ile p.T349I ENST00000296859 10/29 NA NA NA NA NA NA RAPGEF6,missense_variant,p.Thr349Ile,ENST00000509018,NM_016340.6;AC008695.1,missense_variant,p.Thr399Ile,ENST00000514667,;RAPGEF6,missense_variant,p.Thr349Ile,ENST00000507093,NM_001164387.2;RAPGEF6,missense_variant,p.Thr349Ile,ENST00000296859,NM_001164386.2;RAPGEF6,missense_variant,p.Thr349Ile,ENST00000627212,NM_001164388.2;RAPGEF6,missense_variant,p.Thr349Ile,ENST00000308008,NM_001164389.2;RAPGEF6,missense_variant,p.Thr64Ile,ENST00000512052,;RAPGEF6,missense_variant,p.Thr349Ile,ENST00000510071,NM_001164390.2;RAPGEF6,downstream_gene_variant,,ENST00000504039,;RAPGEF6,downstream_gene_variant,,ENST00000504575,;RAPGEF6,downstream_gene_variant,,ENST00000513227,;RAPGEF6,upstream_gene_variant,,ENST00000671916,;RAPGEF6,missense_variant,p.Thr349Ile,ENST00000515170,;RAPGEF6,non_coding_transcript_exon_variant,,ENST00000514179,;,regulatory_region_variant,,ENSR00000769264,; A ENSG00000158987 ENST00000296859 Transcript missense_variant 1127/5618 1046/4830 349/1609 T/I aCt/aTt 1 NA -1 RAPGEF6 HGNC HGNC:20655 protein_coding YES CCDS54900.1 ENSP00000296859 UPI000189A836 NM_001164386.2 deleterious(0.03) possibly_damaging(0.52) 10/29 PROSITE_profiles:PS50042,CDD:cd00038,PANTHER:PTHR23113,PANTHER:PTHR23113:SF222,Pfam:PF00027,Gene3D:2.60.120.10,SMART:SM00100,Superfamily:SSF51206 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . AGT . 859.6 NA NA NA NA NA NA NA NA NA 131505419 FNIP1 96459 . GRCh38 chr5 131672248 131672248 + Frame_Shift_Del DEL T T - novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2196del p.Lys732AsnfsTer23 p.K732Nfs*23 ENST00000510461 14/18 NA NA NA NA NA NA FNIP1,frameshift_variant,p.Lys484AsnfsTer23,ENST00000615660,;FNIP1,frameshift_variant,p.Lys732AsnfsTer23,ENST00000510461,NM_133372.3;FNIP1,frameshift_variant,p.Lys704AsnfsTer23,ENST00000307968,NM_001008738.3;FNIP1,frameshift_variant,p.Lys687AsnfsTer23,ENST00000307954,NM_001346114.2;AC008695.1,intron_variant,,ENST00000514667,;,regulatory_region_variant,,ENSR00000769290,; - ENSG00000217128 ENST00000510461 Transcript frameshift_variant 2292/6568 2196/3501 732/1166 K/X aaA/aa 1 NA -1 FNIP1 HGNC HGNC:29418 protein_coding YES CCDS34227.1 ENSP00000421985 Q8TF40.124 UPI00001AEE81 NM_133372.3 14/18 PROSITE_profiles:PS51836,PANTHER:PTHR21634,PANTHER:PTHR21634:SF12 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 NA NA NA . GGTT . 3585.6 NA NA NA NA NA NA NA NA NA 131672247 IRF1 3659 . GRCh38 chr5 132487113 132487113 + Missense_Mutation SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.205G>A p.Glu69Lys p.E69K ENST00000245414 4/10 NA NA NA NA NA NA IRF1,missense_variant,p.Glu69Lys,ENST00000245414,NM_001354924.1,NM_001354925.1,NM_002198.3;IRF1,missense_variant,p.Glu69Lys,ENST00000405885,;IRF1,missense_variant,p.Glu69Lys,ENST00000458069,;IRF1,missense_variant,p.Glu69Lys,ENST00000437654,;IRF1,missense_variant,p.Glu69Lys,ENST00000613424,;IRF1,missense_variant,p.Glu69Lys,ENST00000476613,;AC116366.2,intron_variant,,ENST00000638452,;AC116366.2,intron_variant,,ENST00000638568,;AC116366.2,intron_variant,,ENST00000640655,;IRF1-AS1,non_coding_transcript_exon_variant,,ENST00000612967,;IRF1,non_coding_transcript_exon_variant,,ENST00000463784,;AC116366.2,intron_variant,,ENST00000638504,;IRF1,synonymous_variant,p.Gly35=,ENST00000439555,;IRF1,non_coding_transcript_exon_variant,,ENST00000472045,;IRF1,non_coding_transcript_exon_variant,,ENST00000459982,;AC116366.2,intron_variant,,ENST00000639899,;IRF1,downstream_gene_variant,,ENST00000493208,; T ENSG00000125347 ENST00000245414 Transcript missense_variant 439/3554 205/978 69/325 E/K Gaa/Aaa 1 NA -1 IRF1 HGNC HGNC:6116 protein_coding YES CCDS4155.1 ENSP00000245414 P10914.185 Q6FHN8.130 UPI000012D885 NM_001354924.1,NM_001354925.1,NM_002198.3 tolerated(0.08) probably_damaging(0.992) 4/10 CDD:cd00103,Gene3D:1.10.10.10,Pfam:PF00605,PIRSF:PIRSF038196,SMART:SM00348,Superfamily:SSF46785,PROSITE_profiles:PS51507,PANTHER:PTHR11949:SF3,PANTHER:PTHR11949 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . TCC . 4806.6 NA NA NA NA NA NA NA NA NA 132487113 SOWAHA 134548 . GRCh38 chr5 132814055 132814056 + Frame_Shift_Ins INS - - G rs749747149 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.441dup p.Pro148AlafsTer22 p.P148Afs*22 ENST00000378693 1/1 NA NA NA NA NA NA SOWAHA,frameshift_variant,p.Pro148AlafsTer22,ENST00000378693,NM_175873.6;AC004775.1,downstream_gene_variant,,ENST00000607389,;,regulatory_region_variant,,ENSR00000769562,;,TF_binding_site_variant,,ENSM00526000593,;,TF_binding_site_variant,,ENSM00524598835,; G ENSG00000198944 ENST00000378693 Transcript frameshift_variant 754-755/3485 434-435/1650 145/549 P/PX ccg/ccGg rs749747149 1 NA 1 SOWAHA HGNC HGNC:27033 protein_coding YES CCDS43361.1 ENSP00000367965 Q2M3V2.112 UPI000156802F NM_175873.6 1/1 PANTHER:PTHR14491,PANTHER:PTHR14491:SF2,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 insertion NA 7 NA NA . CCG . 1028.64 3.703e-05 NA 3.505e-05 NA NA 0.0001112 4.554e-05 0.0002235 NA 132814055 GDF9 2661 . GRCh38 chr5 132864526 132864526 + Missense_Mutation SNP C C T NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.8G>A p.Arg3His p.R3H ENST00000378673 2/3 NA NA NA NA NA NA GDF9,missense_variant,p.Arg3His,ENST00000378673,NM_005260.5;GDF9,intron_variant,,ENST00000296875,NM_001288827.2;GDF9,intron_variant,,ENST00000621295,NM_001288825.2;GDF9,intron_variant,,ENST00000624492,NM_001288824.2;GDF9,intron_variant,,ENST00000624495,NM_001288828.2,NM_001288826.2;UQCRQ,upstream_gene_variant,,ENST00000378665,;UQCRQ,upstream_gene_variant,,ENST00000378667,;UQCRQ,upstream_gene_variant,,ENST00000378670,NM_014402.5;GDF9,intron_variant,,ENST00000464378,;GDF9,intron_variant,,ENST00000472320,;UQCRQ,upstream_gene_variant,,ENST00000496429,;UQCRQ,upstream_gene_variant,,ENST00000480372,;UQCRQ,upstream_gene_variant,,ENST00000498309,; T ENSG00000164404 ENST00000378673 Transcript missense_variant 875/2640 8/1365 3/454 R/H cGt/cAt COSV51525988 1 NA -1 GDF9 HGNC HGNC:4224 protein_coding YES CCDS4162.1 ENSP00000367942 O60383.157 UPI000012B396 NM_005260.5 deleterious_low_confidence(0.01) benign(0.092) 2/3 Cleavage_site_(Signalp):SignalP-noTM,PANTHER:PTHR11848,PANTHER:PTHR11848:SF19 NA NA NA NA NA NA NA NA NA 1 NA NA NA NA MODERATE NA SNV 5 NA 1 NA 1 . ACG . 2258.6 NA NA NA NA NA NA NA NA NA 132864526 SPOCK1 6695 . GRCh38 chr5 137112438 137112438 + Silent SNP G G A rs1337489933 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.471C>T p.Ser157= p.S157= ENST00000394945 5/11 NA NA NA NA NA NA SPOCK1,synonymous_variant,p.Ser157=,ENST00000394945,NM_004598.4;SPOCK1,synonymous_variant,p.Ser95=,ENST00000282223,;SPOCK1,synonymous_variant,p.Ser12=,ENST00000510689,;SPOCK1,downstream_gene_variant,,ENST00000505690,;SPOCK1,non_coding_transcript_exon_variant,,ENST00000635347,;SPOCK1,non_coding_transcript_exon_variant,,ENST00000510405,;SPOCK1,downstream_gene_variant,,ENST00000503916,; A ENSG00000152377 ENST00000394945 Transcript synonymous_variant 619/4824 471/1320 157/439 S tcC/tcT rs1337489933 1 NA -1 SPOCK1 HGNC HGNC:11251 protein_coding YES CCDS4191.1 ENSP00000378401 Q08629.167 UPI0000136F50 NM_004598.4 5/11 PROSITE_profiles:PS51465,CDD:cd00104,PANTHER:PTHR13866:SF17,PANTHER:PTHR13866,Gene3D:3.30.60.30,Pfam:PF07648,SMART:SM00280,Superfamily:SSF100895 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . TGG . 2295.6 NA NA NA NA NA NA NA NA NA 137112438 KLHL3 26249 . GRCh38 chr5 137634051 137634051 + Missense_Mutation SNP C C T rs555543412 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1436G>A p.Arg479His p.R479H ENST00000309755 12/15 NA NA NA NA NA NA KLHL3,missense_variant,p.Arg447His,ENST00000508657,NM_001257194.1;KLHL3,missense_variant,p.Arg479His,ENST00000309755,NM_017415.3;KLHL3,missense_variant,p.Arg397His,ENST00000506491,NM_001257195.1;KLHL3,downstream_gene_variant,,ENST00000505853,;KLHL3,non_coding_transcript_exon_variant,,ENST00000506873,;KLHL3,non_coding_transcript_exon_variant,,ENST00000502381,;KLHL3,intron_variant,,ENST00000504208,;KLHL3,upstream_gene_variant,,ENST00000447439,; T ENSG00000146021 ENST00000309755 Transcript missense_variant 1879/6805 1436/1764 479/587 R/H cGc/cAc rs555543412 1 NA -1 KLHL3 HGNC HGNC:6354 protein_coding YES CCDS4192.1 ENSP00000312397 Q9UH77.170 UPI000012DE05 NM_017415.3 deleterious(0.05) probably_damaging(0.97) 12/15 PDB-ENSP_mappings:4ch9.A,PDB-ENSP_mappings:4ch9.B,PDB-ENSP_mappings:5nkp.A,PDB-ENSP_mappings:5nkp.B,PANTHER:PTHR24412,PANTHER:PTHR24412:SF179,PIRSF:PIRSF037037,Gene3D:2.120.10.80,Pfam:PF01344,SMART:SM00612,Superfamily:SSF117281 2e-04 NA 0.0014 NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . GCG . 2086.6 3.98e-06 NA NA NA 5.438e-05 NA NA NA NA 137634051 BRD8 10902 . GRCh38 chr5 138152626 138152626 + Silent SNP A A G novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2712T>C p.Thr904= p.T904= ENST00000254900 21/27 NA NA NA NA NA NA BRD8,synonymous_variant,p.Thr904=,ENST00000254900,NM_139199.2;BRD8,synonymous_variant,p.Thr10=,ENST00000427976,;BRD8,downstream_gene_variant,,ENST00000230901,NM_006696.4;BRD8,downstream_gene_variant,,ENST00000402931,NM_001300962.2,NM_001300961.2;BRD8,downstream_gene_variant,,ENST00000411594,NM_001164326.1;BRD8,downstream_gene_variant,,ENST00000418329,;BRD8,downstream_gene_variant,,ENST00000441656,;BRD8,downstream_gene_variant,,ENST00000454473,NM_001300966.2;BRD8,downstream_gene_variant,,ENST00000472478,;BRD8,downstream_gene_variant,,ENST00000512140,; G ENSG00000112983 ENST00000254900 Transcript synonymous_variant 2728/4028 2712/3708 904/1235 T acT/acC 1 NA -1 BRD8 HGNC HGNC:19874 protein_coding YES CCDS4198.1 ENSP00000254900 Q9H0E9.166 UPI0000246C01 NM_139199.2 21/27 Low_complexity_(Seg):seg,MobiDB_lite:mobidb-lite,PANTHER:PTHR15398,PANTHER:PTHR15398:SF6 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . CAG . 1992.6 NA NA NA NA NA NA NA NA NA 138152626 PROB1 389333 . GRCh38 chr5 139393124 139393124 + Missense_Mutation SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1958C>T p.Ala653Val p.A653V ENST00000434752 1/1 NA NA NA NA NA NA PROB1,missense_variant,p.Ala653Val,ENST00000434752,NM_001161546.2;SPATA24,downstream_gene_variant,,ENST00000302091,;MZB1,upstream_gene_variant,,ENST00000302125,NM_016459.4;SPATA24,downstream_gene_variant,,ENST00000450845,NM_194296.2;SPATA24,downstream_gene_variant,,ENST00000512761,;SPATA24,downstream_gene_variant,,ENST00000514983,;MZB1,upstream_gene_variant,,ENST00000417694,;MZB1,upstream_gene_variant,,ENST00000503120,;MZB1,upstream_gene_variant,,ENST00000503351,;MZB1,upstream_gene_variant,,ENST00000503481,;MZB1,upstream_gene_variant,,ENST00000509591,;MZB1,upstream_gene_variant,,ENST00000511979,;MZB1,upstream_gene_variant,,ENST00000513389,;,regulatory_region_variant,,ENSR00000187637,;,TF_binding_site_variant,,ENSM00000051119,; A ENSG00000228672 ENST00000434752 Transcript missense_variant 1981/4513 1958/3048 653/1015 A/V gCc/gTc 1 NA -1 PROB1 HGNC HGNC:41906 protein_coding YES CCDS54909.1 ENSP00000416033 E7EW31.54 UPI00001974A9 NM_001161546.2 tolerated_low_confidence(0.07) benign(0.046) 1/1 PANTHER:PTHR33775,PANTHER:PTHR33775:SF1,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE NA SNV NA NA NA NA . GGC . 4439.6 NA NA NA NA NA NA NA NA NA 139393124 PCDHA4 56144 . GRCh38 chr5 140807370 140807370 + Silent SNP G G C novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.183G>C p.Pro61= p.P61= ENST00000530339 1/4 NA NA NA NA NA NA PCDHA4,synonymous_variant,p.Pro61=,ENST00000618834,NM_031500.3;PCDHA4,synonymous_variant,p.Pro61=,ENST00000530339,NM_018907.4;PCDHA4,synonymous_variant,p.Pro61=,ENST00000512229,;PCDHA4,synonymous_variant,p.Pro61=,ENST00000672575,;PCDHA4,synonymous_variant,p.Pro60=,ENST00000378125,;PCDHA1,intron_variant,,ENST00000394633,NM_031411.3;PCDHA1,intron_variant,,ENST00000504120,NM_018900.4;PCDHA3,intron_variant,,ENST00000522353,NM_018906.3;PCDHA2,intron_variant,,ENST00000526136,NM_018905.3;PCDHA2,downstream_gene_variant,,ENST00000520672,NM_031496.2;PCDHA3,downstream_gene_variant,,ENST00000532566,NM_031497.1;AC005609.5,intron_variant,,ENST00000624712,;AC005609.5,intron_variant,,ENST00000655235,;,regulatory_region_variant,,ENSR00000317550,;,regulatory_region_variant,,ENSR00000771514,; C ENSG00000204967 ENST00000530339 Transcript synonymous_variant 303/5374 183/2844 61/947 P ccG/ccC 1 NA 1 PCDHA4 HGNC HGNC:8670 protein_coding YES CCDS54916.1 ENSP00000435300 Q9UN74.167 UPI00001273CC NM_018907.4 1/4 CDD:cd11304,Pfam:PF08266,Gene3D:2.60.40.60,SMART:SM00112,Superfamily:SSF49313,PROSITE_profiles:PS50268,PANTHER:PTHR24028,PANTHER:PTHR24028:SF82 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . CGC . 50.6 NA NA NA NA NA NA NA NA NA 140807370 PCDHA4 56144 . GRCh38 chr5 140807380 140807380 + Silent SNP C C A NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.193C>A p.Arg65= p.R65= ENST00000530339 1/4 NA NA NA NA NA NA PCDHA4,synonymous_variant,p.Arg65=,ENST00000618834,NM_031500.3;PCDHA4,synonymous_variant,p.Arg65=,ENST00000530339,NM_018907.4;PCDHA4,synonymous_variant,p.Arg65=,ENST00000512229,;PCDHA4,synonymous_variant,p.Arg65=,ENST00000672575,;PCDHA4,synonymous_variant,p.Arg64=,ENST00000378125,;PCDHA1,intron_variant,,ENST00000394633,NM_031411.3;PCDHA1,intron_variant,,ENST00000504120,NM_018900.4;PCDHA3,intron_variant,,ENST00000522353,NM_018906.3;PCDHA2,intron_variant,,ENST00000526136,NM_018905.3;PCDHA2,downstream_gene_variant,,ENST00000520672,NM_031496.2;PCDHA3,downstream_gene_variant,,ENST00000532566,NM_031497.1;AC005609.5,intron_variant,,ENST00000624712,;AC005609.5,intron_variant,,ENST00000655235,;,regulatory_region_variant,,ENSR00000317550,;,regulatory_region_variant,,ENSR00000771514,; A ENSG00000204967 ENST00000530339 Transcript synonymous_variant 313/5374 193/2844 65/947 R Cgg/Agg COSV100793260 1 NA 1 PCDHA4 HGNC HGNC:8670 protein_coding YES CCDS54916.1 ENSP00000435300 Q9UN74.167 UPI00001273CC NM_018907.4 1/4 CDD:cd11304,Pfam:PF08266,Gene3D:2.60.40.60,SMART:SM00112,Superfamily:SSF49313,PROSITE_profiles:PS50268,PANTHER:PTHR24028,PANTHER:PTHR24028:SF82 NA NA NA NA NA NA NA NA NA 1 NA NA NA NA LOW 1 SNV 1 NA 1 NA NA . CCG . 168.6 NA NA NA NA NA NA NA NA NA 140807380 PCDHB2 56133 . GRCh38 chr5 141096328 141096328 + Missense_Mutation SNP G G A rs782364615 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1538G>A p.Gly513Asp p.G513D ENST00000194155 1/1 NA NA NA NA NA NA PCDHB2,missense_variant,p.Gly513Asp,ENST00000194155,NM_018936.4;PCDHB2,3_prime_UTR_variant,,ENST00000622947,;PCDHB3,upstream_gene_variant,,ENST00000231130,NM_018937.5;PCDHB2,downstream_gene_variant,,ENST00000624874,;PCDHB2,upstream_gene_variant,,ENST00000624994,;PCDHB2,downstream_gene_variant,,ENST00000625033,;AC244517.5,splice_region_variant,,ENST00000623741,;AC244517.5,non_coding_transcript_exon_variant,,ENST00000656356,;AC244517.5,non_coding_transcript_exon_variant,,ENST00000623615,;AC244517.2,downstream_gene_variant,,ENST00000607216,;AC244517.2,downstream_gene_variant,,ENST00000624802,;AC244517.2,downstream_gene_variant,,ENST00000625066,;AC244517.2,downstream_gene_variant,,ENST00000625128,;AC244517.2,downstream_gene_variant,,ENST00000660221,; A ENSG00000112852 ENST00000194155 Transcript missense_variant 1714/4089 1538/2397 513/798 G/D gGc/gAc rs782364615 1 NA 1 PCDHB2 HGNC HGNC:8687 protein_coding YES CCDS4244.1 ENSP00000194155 Q9Y5E7.159 UPI00001273DC NM_018936.4 deleterious_low_confidence(0) probably_damaging(1) 1/1 Gene3D:2.60.40.60,Pfam:PF00028,Prints:PR00205,PROSITE_profiles:PS50268,PANTHER:PTHR24028,PANTHER:PTHR24028:SF281,SMART:SM00112,Superfamily:SSF49313,CDD:cd11304 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV NA NA NA NA . GGC . 5490.6 7.959e-06 NA NA NA NA NA NA NA 6.533e-05 141096328 PCDHB3 56132 . GRCh38 chr5 141101444 141101444 + Silent SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.795G>A p.Ser265= p.S265= ENST00000231130 1/1 NA NA NA NA NA NA PCDHB3,synonymous_variant,p.Ser265=,ENST00000231130,NM_018937.5;PCDHB2,downstream_gene_variant,,ENST00000194155,NM_018936.4;PCDHB2,downstream_gene_variant,,ENST00000622947,;PCDHB3,upstream_gene_variant,,ENST00000624513,;PCDHB2,downstream_gene_variant,,ENST00000624994,;AC244517.2,intron_variant,,ENST00000607216,;AC244517.2,intron_variant,,ENST00000624802,;AC244517.2,intron_variant,,ENST00000625066,;AC244517.2,intron_variant,,ENST00000625128,;AC244517.2,intron_variant,,ENST00000660221,; A ENSG00000113205 ENST00000231130 Transcript synonymous_variant 972/3355 795/2391 265/796 S tcG/tcA 1 NA 1 PCDHB3 HGNC HGNC:8688 protein_coding YES CCDS4245.1 ENSP00000231130 Q9Y5E6.156 UPI0003CC25DF NM_018937.5 1/1 CDD:cd11304,Pfam:PF00028,Gene3D:2.60.40.60,SMART:SM00112,Superfamily:SSF49313,PROSITE_profiles:PS50268,PANTHER:PTHR24028,PANTHER:PTHR24028:SF281,Prints:PR00205 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV NA NA NA NA . CGG . 3629.6 NA NA NA NA NA NA NA NA NA 141101444 PCDHB4 56131 . GRCh38 chr5 141123440 141123440 + Missense_Mutation SNP C C T rs1245332118 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1442C>T p.Thr481Ile p.T481I ENST00000194152 1/1 NA NA NA NA NA NA PCDHB4,missense_variant,p.Thr481Ile,ENST00000194152,NM_018938.4;AC244517.2,intron_variant,,ENST00000624802,;AC244517.2,intron_variant,,ENST00000625066,;AC244517.2,intron_variant,,ENST00000625128,;AC244517.1,downstream_gene_variant,,ENST00000606030,;PCDHB4,non_coding_transcript_exon_variant,,ENST00000623478,; T ENSG00000081818 ENST00000194152 Transcript missense_variant 1623/3806 1442/2388 481/795 T/I aCc/aTc rs1245332118,COSV52019181 1 NA 1 PCDHB4 HGNC HGNC:8689 protein_coding YES CCDS4246.1 ENSP00000194152 Q9Y5E5.162 UPI00001273DF NM_018938.4 tolerated_low_confidence(0.13) benign(0.01) 1/1 Gene3D:2.60.40.60,Pfam:PF00028,PROSITE_profiles:PS50268,PANTHER:PTHR24028,PANTHER:PTHR24028:SF55,SMART:SM00112,Superfamily:SSF49313,CDD:cd11304 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV NA NA 0,1 NA NA . ACC . 988.6 NA NA NA NA NA NA NA NA NA 141123440 PCDHB4 56131 . GRCh38 chr5 141123569 141123569 + Missense_Mutation SNP A A G rs1217316139 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1571A>G p.Gln524Arg p.Q524R ENST00000194152 1/1 NA NA NA NA NA NA PCDHB4,missense_variant,p.Gln524Arg,ENST00000194152,NM_018938.4;AC244517.2,intron_variant,,ENST00000624802,;AC244517.2,intron_variant,,ENST00000625066,;AC244517.2,intron_variant,,ENST00000625128,;AC244517.1,downstream_gene_variant,,ENST00000606030,;PCDHB4,non_coding_transcript_exon_variant,,ENST00000623478,; G ENSG00000081818 ENST00000194152 Transcript missense_variant 1752/3806 1571/2388 524/795 Q/R cAg/cGg rs1217316139,COSV52019191 1 NA 1 PCDHB4 HGNC HGNC:8689 protein_coding YES CCDS4246.1 ENSP00000194152 Q9Y5E5.162 UPI00001273DF NM_018938.4 tolerated_low_confidence(0.72) benign(0.007) 1/1 Gene3D:2.60.40.60,Pfam:PF00028,Prints:PR00205,PROSITE_profiles:PS50268,PANTHER:PTHR24028,PANTHER:PTHR24028:SF55,SMART:SM00112,Superfamily:SSF49313,CDD:cd11304 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV NA NA 0,1 NA NA . CAG . 1709.6 NA NA NA NA NA NA NA NA NA 141123569 PCDHB4 56131 . GRCh38 chr5 141123589 141123589 + Missense_Mutation SNP G G A rs1421906181 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1591G>A p.Gly531Ser p.G531S ENST00000194152 1/1 NA NA NA NA NA NA PCDHB4,missense_variant,p.Gly531Ser,ENST00000194152,NM_018938.4;AC244517.2,intron_variant,,ENST00000624802,;AC244517.2,intron_variant,,ENST00000625066,;AC244517.2,intron_variant,,ENST00000625128,;AC244517.1,downstream_gene_variant,,ENST00000606030,;PCDHB4,non_coding_transcript_exon_variant,,ENST00000623478,; A ENSG00000081818 ENST00000194152 Transcript missense_variant 1772/3806 1591/2388 531/795 G/S Ggc/Agc rs1421906181,COSV52019226 1 NA 1 PCDHB4 HGNC HGNC:8689 protein_coding YES CCDS4246.1 ENSP00000194152 Q9Y5E5.162 UPI00001273DF NM_018938.4 deleterious_low_confidence(0.04) benign(0.159) 1/1 Gene3D:2.60.40.60,Pfam:PF00028,Prints:PR00205,PROSITE_profiles:PS50268,PANTHER:PTHR24028,PANTHER:PTHR24028:SF55,SMART:SM00112,Superfamily:SSF49313,CDD:cd11304 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV NA NA 0,1 NA NA . GGG . 1236.6 NA NA NA NA NA NA NA NA NA 141123589 PCDHB4 56131 . GRCh38 chr5 141123606 141123606 + Silent SNP T T C rs782280718 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1608T>C p.Gly536= p.G536= ENST00000194152 1/1 NA NA NA NA NA NA PCDHB4,synonymous_variant,p.Gly536=,ENST00000194152,NM_018938.4;AC244517.2,intron_variant,,ENST00000624802,;AC244517.2,intron_variant,,ENST00000625066,;AC244517.2,intron_variant,,ENST00000625128,;AC244517.1,downstream_gene_variant,,ENST00000606030,;PCDHB4,non_coding_transcript_exon_variant,,ENST00000623478,; C ENSG00000081818 ENST00000194152 Transcript synonymous_variant 1789/3806 1608/2388 536/795 G ggT/ggC rs782280718 1 NA 1 PCDHB4 HGNC HGNC:8689 protein_coding YES CCDS4246.1 ENSP00000194152 Q9Y5E5.162 UPI00001273DF NM_018938.4 1/1 Gene3D:2.60.40.60,Pfam:PF00028,PROSITE_profiles:PS50268,PANTHER:PTHR24028,PANTHER:PTHR24028:SF55,SMART:SM00112,Superfamily:SSF49313,CDD:cd11304 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV NA NA NA NA . GTT . 427.6 8.002e-06 NA NA NA NA NA 1.773e-05 NA NA 141123606 PCDHB4 56131 . GRCh38 chr5 141123609 141123609 + Silent SNP T T C rs782421320 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1611T>C p.Ser537= p.S537= ENST00000194152 1/1 NA NA NA NA NA NA PCDHB4,synonymous_variant,p.Ser537=,ENST00000194152,NM_018938.4;AC244517.2,intron_variant,,ENST00000624802,;AC244517.2,intron_variant,,ENST00000625066,;AC244517.2,intron_variant,,ENST00000625128,;AC244517.1,downstream_gene_variant,,ENST00000606030,;PCDHB4,non_coding_transcript_exon_variant,,ENST00000623478,; C ENSG00000081818 ENST00000194152 Transcript synonymous_variant 1792/3806 1611/2388 537/795 S tcT/tcC rs782421320 1 NA 1 PCDHB4 HGNC HGNC:8689 protein_coding YES CCDS4246.1 ENSP00000194152 Q9Y5E5.162 UPI00001273DF NM_018938.4 1/1 Gene3D:2.60.40.60,Pfam:PF00028,PROSITE_profiles:PS50268,PANTHER:PTHR24028,PANTHER:PTHR24028:SF55,SMART:SM00112,Superfamily:SSF49313,CDD:cd11304 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV NA NA NA NA . CTC . 436.6 4e-06 NA NA NA NA NA 8.861e-06 NA NA 141123609 PCDHB16 57717 . GRCh38 chr5 141183999 141183999 + Silent SNP G G A rs2697534 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1440G>A p.Ser480= p.S480= ENST00000609684 1/1 NA NA NA NA NA NA PCDHB16,synonymous_variant,p.Ser480=,ENST00000609684,NM_020957.3;PCDHB16,synonymous_variant,p.Ser132=,ENST00000625044,;PCDHB8,downstream_gene_variant,,ENST00000239444,NM_019120.5;PCDHB9,upstream_gene_variant,,ENST00000316105,NM_019119.5;PCDHB9,upstream_gene_variant,,ENST00000624909,;AC244517.6,intron_variant,,ENST00000623407,;AC244517.6,intron_variant,,ENST00000623884,;AC244517.4,intron_variant,,ENST00000624089,;AC244517.11,intron_variant,,ENST00000624192,;AC244517.4,intron_variant,,ENST00000624549,;AC244517.8,downstream_gene_variant,,ENST00000623995,;PCDHB9,upstream_gene_variant,,ENST00000623266,; A ENSG00000272674 ENST00000609684 Transcript synonymous_variant 2601/5001 1440/2331 480/776 S tcG/tcA rs2697534 1 NA 1 PCDHB16 HGNC HGNC:14546 protein_coding YES CCDS4251.1 ENSP00000477314 Q9NRJ7.162 UPI00001273E9 NM_020957.3 1/1 Gene3D:2.60.40.60,Pfam:PF00028,PROSITE_profiles:PS50268,PANTHER:PTHR24028,PANTHER:PTHR24028:SF71,SMART:SM00112,Superfamily:SSF49313,CDD:cd11304 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW NA SNV NA NA NA NA . CGG . 4284.6 NA NA NA NA NA NA NA NA NA 141183999 PCDHB16 57717 . GRCh38 chr5 141184041 141184041 + Silent SNP A A G rs17844647 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1482A>G p.Gln494= p.Q494= ENST00000609684 1/1 NA NA NA NA NA NA PCDHB16,synonymous_variant,p.Gln494=,ENST00000609684,NM_020957.3;PCDHB16,synonymous_variant,p.Gln146=,ENST00000625044,;PCDHB8,downstream_gene_variant,,ENST00000239444,NM_019120.5;PCDHB9,upstream_gene_variant,,ENST00000316105,NM_019119.5;PCDHB9,upstream_gene_variant,,ENST00000624909,;AC244517.6,intron_variant,,ENST00000623407,;AC244517.6,intron_variant,,ENST00000623884,;AC244517.4,intron_variant,,ENST00000624089,;AC244517.11,intron_variant,,ENST00000624192,;AC244517.4,intron_variant,,ENST00000624549,;AC244517.8,downstream_gene_variant,,ENST00000623995,;PCDHB9,upstream_gene_variant,,ENST00000623266,; G ENSG00000272674 ENST00000609684 Transcript synonymous_variant 2643/5001 1482/2331 494/776 Q caA/caG rs17844647 1 NA 1 PCDHB16 HGNC HGNC:14546 protein_coding YES CCDS4251.1 ENSP00000477314 Q9NRJ7.162 UPI00001273E9 NM_020957.3 1/1 Gene3D:2.60.40.60,Pfam:PF00028,PROSITE_profiles:PS50268,PANTHER:PTHR24028,PANTHER:PTHR24028:SF71,SMART:SM00112,Superfamily:SSF49313,CDD:cd11304 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW NA SNV NA NA NA NA . AAG . 1932.6 NA NA NA NA NA NA NA NA NA 141184041 PCDHB16 57717 . GRCh38 chr5 141184083 141184083 + Silent SNP G G A rs2697533 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1524G>A p.Ala508= p.A508= ENST00000609684 1/1 NA NA NA NA NA NA PCDHB16,synonymous_variant,p.Ala508=,ENST00000609684,NM_020957.3;PCDHB16,synonymous_variant,p.Ala160=,ENST00000625044,;PCDHB8,downstream_gene_variant,,ENST00000239444,NM_019120.5;PCDHB9,upstream_gene_variant,,ENST00000316105,NM_019119.5;PCDHB9,upstream_gene_variant,,ENST00000624909,;AC244517.6,intron_variant,,ENST00000623407,;AC244517.6,intron_variant,,ENST00000623884,;AC244517.4,intron_variant,,ENST00000624089,;AC244517.11,intron_variant,,ENST00000624192,;AC244517.4,intron_variant,,ENST00000624549,;AC244517.8,downstream_gene_variant,,ENST00000623995,;PCDHB9,upstream_gene_variant,,ENST00000623266,; A ENSG00000272674 ENST00000609684 Transcript synonymous_variant 2685/5001 1524/2331 508/776 A gcG/gcA rs2697533 1 NA 1 PCDHB16 HGNC HGNC:14546 protein_coding YES CCDS4251.1 ENSP00000477314 Q9NRJ7.162 UPI00001273E9 NM_020957.3 1/1 Gene3D:2.60.40.60,Pfam:PF00028,PROSITE_profiles:PS50268,PANTHER:PTHR24028,PANTHER:PTHR24028:SF71,SMART:SM00112,Superfamily:SSF49313,CDD:cd11304 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW NA SNV NA NA NA NA . CGG . 1279.6 NA NA NA NA NA NA NA NA NA 141184083 PCDHB9 0 . GRCh38 chr5 141189223 141189223 + Silent SNP G G A rs2860540 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1905G>A p.Ala635= p.A635= ENST00000316105 1/1 NA NA NA NA NA NA PCDHB9,synonymous_variant,p.Ala635=,ENST00000316105,NM_019119.5;PCDHB10,upstream_gene_variant,,ENST00000239446,NM_018930.4;PCDHB16,downstream_gene_variant,,ENST00000609684,NM_020957.3;PCDHB9,downstream_gene_variant,,ENST00000624909,;PCDHB16,downstream_gene_variant,,ENST00000625044,;AC244517.11,intron_variant,,ENST00000624192,;AC244517.4,intron_variant,,ENST00000624549,;AC244517.6,downstream_gene_variant,,ENST00000623407,;AC244517.6,downstream_gene_variant,,ENST00000623884,;AC244517.4,upstream_gene_variant,,ENST00000624089,;AC244517.7,downstream_gene_variant,,ENST00000625144,;PCDHB9,downstream_gene_variant,,ENST00000623266,;,regulatory_region_variant,,ENSR00000771595,; A ENSG00000177839 ENST00000316105 Transcript synonymous_variant 2063/4381 1905/2394 635/797 A gcG/gcA rs2860540 1 NA 1 PCDHB9 HGNC HGNC:8694 protein_coding YES CCDS75328.1 ENSP00000478606 Q9Y5E1.149 UPI00005764A0 NM_019119.5 1/1 CDD:cd11304,Pfam:PF00028,Gene3D:2.60.40.60,SMART:SM00112,Superfamily:SSF49313,PROSITE_profiles:PS50268,PANTHER:PTHR24028:SF128,PANTHER:PTHR24028 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW NA SNV NA NA NA NA . CGG . 3557.6 NA NA NA NA NA NA NA NA NA 141189223 PCDHB11 56125 . GRCh38 chr5 141201351 141201351 + Missense_Mutation SNP C C A rs782125692 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1577C>A p.Ala526Asp p.A526D ENST00000354757 1/1 NA NA NA NA NA NA PCDHB11,missense_variant,p.Ala526Asp,ENST00000354757,NM_018931.3;PCDHB11,missense_variant,p.Ala161Asp,ENST00000624887,;AC244517.4,non_coding_transcript_exon_variant,,ENST00000624549,;AC244517.11,intron_variant,,ENST00000624192,; A ENSG00000197479 ENST00000354757 Transcript missense_variant 1725/4153 1577/2394 526/797 A/D gCt/gAt rs782125692 1 NA 1 PCDHB11 HGNC HGNC:8682 protein_coding YES CCDS4253.1 ENSP00000346802 Q9Y5F2.166 UPI00001273E6 NM_018931.3 deleterious_low_confidence(0.01) benign(0.293) 1/1 Gene3D:2.60.40.60,Pfam:PF00028,Prints:PR00205,PROSITE_profiles:PS50268,PANTHER:PTHR24028,PANTHER:PTHR24028:SF91,SMART:SM00112,Superfamily:SSF49313,CDD:cd11304 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE NA SNV NA NA NA NA . GCT . 46.6 NA NA NA NA NA NA NA NA NA 141201351 PCDHB11 56125 . GRCh38 chr5 141201475 141201475 + Silent SNP C C T rs548853589 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1701C>T p.Asn567= p.N567= ENST00000354757 1/1 NA NA NA NA NA NA PCDHB11,synonymous_variant,p.Asn567=,ENST00000354757,NM_018931.3;PCDHB11,synonymous_variant,p.Asn202=,ENST00000624887,;AC244517.11,intron_variant,,ENST00000624192,;AC244517.4,upstream_gene_variant,,ENST00000624549,; T ENSG00000197479 ENST00000354757 Transcript synonymous_variant 1849/4153 1701/2394 567/797 N aaC/aaT rs548853589,COSV100696903 1 NA 1 PCDHB11 HGNC HGNC:8682 protein_coding YES CCDS4253.1 ENSP00000346802 Q9Y5F2.166 UPI00001273E6 NM_018931.3 1/1 Gene3D:2.60.40.60,PANTHER:PTHR24028,PANTHER:PTHR24028:SF91,Superfamily:SSF49313,Superfamily:SSF49313 2e-04 NA NA NA NA 0.001 NA NA NA 0,1 NA NA NA NA LOW NA SNV NA NA 0,1 NA NA . ACG . 55.6 0.0001266 8.864e-05 0.0002267 NA NA NA 0.0001273 0.0003694 0.0001707 141201475 PCDHB14 56122 . GRCh38 chr5 141225407 141225407 + Silent SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1902C>T p.Asp634= p.D634= ENST00000239449 1/1 NA NA NA NA NA NA PCDHB14,synonymous_variant,p.Asp634=,ENST00000239449,NM_018934.3;PCDHB14,synonymous_variant,p.Asp481=,ENST00000624896,;AC244517.10,intron_variant,,ENST00000624396,;AC244517.11,intron_variant,,ENST00000624192,; T ENSG00000120327 ENST00000239449 Transcript synonymous_variant 2476/4828 1902/2397 634/798 D gaC/gaT 1 NA 1 PCDHB14 HGNC HGNC:8685 protein_coding YES CCDS4256.1 ENSP00000239449 Q9Y5E9.162 UPI00001273E7 NM_018934.3 1/1 Gene3D:2.60.40.60,Pfam:PF00028,PROSITE_profiles:PS50268,PANTHER:PTHR24028,PANTHER:PTHR24028:SF81,SMART:SM00112,Superfamily:SSF49313,CDD:cd11304 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW NA SNV NA NA NA NA . ACG . 2853.6 NA NA NA NA NA NA NA NA NA 141225407 PCDHB15 56121 . GRCh38 chr5 141247026 141247026 + Missense_Mutation SNP A A G NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1448A>G p.Asn483Ser p.N483S ENST00000231173 1/1 NA NA NA NA NA NA PCDHB15,missense_variant,p.Asn483Ser,ENST00000231173,NM_018935.4;PCDHB15,downstream_gene_variant,,ENST00000623671,;AC244517.10,downstream_gene_variant,,ENST00000624396,;AC244517.11,upstream_gene_variant,,ENST00000623336,;AC244517.11,upstream_gene_variant,,ENST00000624424,;AC244517.11,upstream_gene_variant,,ENST00000624560,;PCDHB19P,downstream_gene_variant,,ENST00000625133,;PCDHB19P,downstream_gene_variant,,ENST00000570871,; G ENSG00000113248 ENST00000231173 Transcript missense_variant 1632/3971 1448/2364 483/787 N/S aAc/aGc COSV51198160 1 NA 1 PCDHB15 HGNC HGNC:8686 protein_coding YES CCDS4257.1 ENSP00000231173 Q9Y5E8.165 UPI00001273E8 NM_018935.4 deleterious_low_confidence(0) probably_damaging(1) 1/1 Gene3D:2.60.40.60,Pfam:PF00028,PROSITE_profiles:PS50268,PANTHER:PTHR24028,PANTHER:PTHR24028:SF97,SMART:SM00112,Superfamily:SSF49313,CDD:cd11304 NA NA NA NA NA NA NA NA NA 1 NA NA NA NA MODERATE NA SNV NA NA 1 NA NA . AAC . 7890.6 NA NA NA NA NA NA NA NA NA 141247026 PCDHGA2 56113 . GRCh38 chr5 141339931 141339931 + Missense_Mutation SNP A A C novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.960A>C p.Glu320Asp p.E320D ENST00000394576 1/4 NA NA NA NA NA NA PCDHGA2,missense_variant,p.Glu320Asp,ENST00000394576,NM_018915.4;PCDHGA2,missense_variant,p.Glu320Asp,ENST00000528330,NM_032009.3;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGA3,upstream_gene_variant,,ENST00000253812,NM_018916.4;PCDHGA3,upstream_gene_variant,,ENST00000619750,NM_032011.1;PCDHGA3,upstream_gene_variant,,ENST00000612467,; C ENSG00000081853 ENST00000394576 Transcript missense_variant 1172/4813 960/2799 320/932 E/D gaA/gaC 1 NA 1 PCDHGA2 HGNC HGNC:8700 protein_coding YES CCDS47289.1 ENSP00000378077 Q9Y5H1.158 UPI0000072E67 NM_018915.4 deleterious_low_confidence(0) possibly_damaging(0.756) 1/4 CDD:cd11304,Gene3D:2.60.40.60,Pfam:PF00028,SMART:SM00112,Superfamily:SSF49313,PROSITE_profiles:PS50268,PANTHER:PTHR24028:SF134,PANTHER:PTHR24028 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . AAG . 3210.6 NA NA NA NA NA NA NA NA NA 141339931 PCDHGB4 8641 . GRCh38 chr5 141389445 141389445 + Missense_Mutation SNP G G A rs749321526 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1561G>A p.Glu521Lys p.E521K ENST00000519479 1/4 NA NA NA NA NA NA PCDHGB4,missense_variant,p.Glu521Lys,ENST00000519479,NM_003736.4;PCDHGB4,missense_variant,p.Glu521Lys,ENST00000615384,NM_032098.1;PCDHGA3,intron_variant,,ENST00000253812,NM_018916.4;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.4;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGA6,intron_variant,,ENST00000517434,NM_018919.3;PCDHGA5,intron_variant,,ENST00000518069,NM_018918.2;PCDHGA7,intron_variant,,ENST00000518325,NM_018920.4;PCDHGB2,intron_variant,,ENST00000522605,NM_018923.2;PCDHGB1,intron_variant,,ENST00000523390,NM_018922.2;PCDHGA4,intron_variant,,ENST00000571252,NM_018917.4;PCDHGB3,intron_variant,,ENST00000576222,NM_018924.5;PCDHGA8,upstream_gene_variant,,ENST00000398604,NM_032088.1;PCDHGA8,upstream_gene_variant,,ENST00000610569,NM_014004.2;PCDHGA7,downstream_gene_variant,,ENST00000617050,NM_032087.3;PCDHGA3,intron_variant,,ENST00000612467,; A ENSG00000253953 ENST00000519479 Transcript missense_variant 1748/4761 1561/2772 521/923 E/K Gag/Aag rs749321526,COSV54030322 1 NA 1 PCDHGB4 HGNC HGNC:8711 protein_coding YES CCDS54928.1 ENSP00000428288 Q9UN71.150 UPI000006F773 NM_003736.4 deleterious(0) probably_damaging(0.99) 1/4 Gene3D:2.60.40.60,Pfam:PF00028,Prints:PR00205,PROSITE_profiles:PS50268,PANTHER:PTHR24028,PANTHER:PTHR24028:SF117,SMART:SM00112,Superfamily:SSF49313,CDD:cd11304 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 1 NA 0,1 NA NA . CGA . 13455.6 8.067e-06 NA NA NA NA NA 1.784e-05 NA NA 141389445 PCDHGA10 56106 . GRCh38 chr5 141414678 141414678 + Frame_Shift_Del DEL G G - NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1507del p.Val503TyrfsTer34 p.V503Yfs*34 ENST00000398610 1/4 NA NA NA NA NA NA PCDHGA10,frameshift_variant,p.Val503TyrfsTer34,ENST00000398610,NM_018913.2;PCDHGA10,frameshift_variant,p.Val503TyrfsTer34,ENST00000612503,NM_032090.1;PCDHGA3,intron_variant,,ENST00000253812,NM_018916.4;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.4;PCDHGA8,intron_variant,,ENST00000398604,NM_032088.1;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGA6,intron_variant,,ENST00000517434,NM_018919.3;PCDHGA5,intron_variant,,ENST00000518069,NM_018918.2;PCDHGA7,intron_variant,,ENST00000518325,NM_018920.4;PCDHGB4,intron_variant,,ENST00000519479,NM_003736.4;PCDHGB6,intron_variant,,ENST00000520790,NM_018926.2;PCDHGB2,intron_variant,,ENST00000522605,NM_018923.2;PCDHGB1,intron_variant,,ENST00000523390,NM_018922.2;PCDHGA4,intron_variant,,ENST00000571252,NM_018917.4;PCDHGA9,intron_variant,,ENST00000573521,NM_018921.2;PCDHGB3,intron_variant,,ENST00000576222,NM_018924.5;PCDHGB5,intron_variant,,ENST00000617380,NM_018925.2;PCDHGB7,upstream_gene_variant,,ENST00000398594,NM_018927.4;PCDHGB7,upstream_gene_variant,,ENST00000612073,NM_032101.3;PCDHGB6,downstream_gene_variant,,ENST00000616430,NM_032100.1;PCDHGA3,intron_variant,,ENST00000612467,; - ENSG00000253846 ENST00000398610 Transcript frameshift_variant 1503/4617 1503/2811 501/936 Q/X caG/ca COSV99545309 1 NA 1 PCDHGA10 HGNC HGNC:8697 protein_coding YES CCDS47292.1 ENSP00000381611 Q9Y5H3.148 UPI00000726C3 NM_018913.2 1/4 CDD:cd11304,Gene3D:2.60.40.60,Pfam:PF00028,SMART:SM00112,Superfamily:SSF49313,PROSITE_profiles:PS50268,PANTHER:PTHR24028,PANTHER:PTHR24028:SF110 NA NA NA NA NA NA NA NA NA 1 NA NA NA NA HIGH 1 deletion 1 4 1 NA NA . CAGG . 4875.6 NA NA NA NA NA NA NA NA NA 141414677 PCDHGA10 56106 . GRCh38 chr5 141414814 141414814 + Missense_Mutation SNP A A G novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1639A>G p.Ser547Gly p.S547G ENST00000398610 1/4 NA NA NA NA NA NA PCDHGA10,missense_variant,p.Ser547Gly,ENST00000398610,NM_018913.2;PCDHGA10,missense_variant,p.Ser547Gly,ENST00000612503,NM_032090.1;PCDHGA3,intron_variant,,ENST00000253812,NM_018916.4;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.4;PCDHGA8,intron_variant,,ENST00000398604,NM_032088.1;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGA6,intron_variant,,ENST00000517434,NM_018919.3;PCDHGA5,intron_variant,,ENST00000518069,NM_018918.2;PCDHGA7,intron_variant,,ENST00000518325,NM_018920.4;PCDHGB4,intron_variant,,ENST00000519479,NM_003736.4;PCDHGB6,intron_variant,,ENST00000520790,NM_018926.2;PCDHGB2,intron_variant,,ENST00000522605,NM_018923.2;PCDHGB1,intron_variant,,ENST00000523390,NM_018922.2;PCDHGA4,intron_variant,,ENST00000571252,NM_018917.4;PCDHGA9,intron_variant,,ENST00000573521,NM_018921.2;PCDHGB3,intron_variant,,ENST00000576222,NM_018924.5;PCDHGB5,intron_variant,,ENST00000617380,NM_018925.2;PCDHGB7,upstream_gene_variant,,ENST00000398594,NM_018927.4;PCDHGB7,upstream_gene_variant,,ENST00000612073,NM_032101.3;PCDHGB6,downstream_gene_variant,,ENST00000616430,NM_032100.1;PCDHGA3,intron_variant,,ENST00000612467,; G ENSG00000253846 ENST00000398610 Transcript missense_variant 1639/4617 1639/2811 547/936 S/G Agc/Ggc 1 NA 1 PCDHGA10 HGNC HGNC:8697 protein_coding YES CCDS47292.1 ENSP00000381611 Q9Y5H3.148 UPI00000726C3 NM_018913.2 deleterious_low_confidence(0) benign(0.25) 1/4 Low_complexity_(Seg):seg,CDD:cd11304,Gene3D:2.60.40.60,Pfam:PF00028,SMART:SM00112,Superfamily:SSF49313,PROSITE_profiles:PS50268,PANTHER:PTHR24028,PANTHER:PTHR24028:SF110 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CAG . 6249.6 NA NA NA NA NA NA NA NA NA 141414814 PCDHGC5 56097 . GRCh38 chr5 141489905 141489905 + Missense_Mutation SNP G G A rs374663576 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.665G>A p.Arg222His p.R222H ENST00000252087 1/4 NA NA NA NA NA NA PCDHGC5,missense_variant,p.Arg222His,ENST00000252087,NM_018929.3;PCDHGC5,missense_variant,p.Arg222His,ENST00000610789,NM_032407.1;PCDHGA12,intron_variant,,ENST00000252085,NM_003735.3;PCDHGA3,intron_variant,,ENST00000253812,NM_018916.4;PCDHGC4,intron_variant,,ENST00000306593,NM_018928.2;PCDHGC3,intron_variant,,ENST00000308177,NM_002588.4;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.4;PCDHGA11,intron_variant,,ENST00000398587,NM_018914.3;PCDHGB7,intron_variant,,ENST00000398594,NM_018927.4;PCDHGA8,intron_variant,,ENST00000398604,NM_032088.1;PCDHGA10,intron_variant,,ENST00000398610,NM_018913.2;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGA6,intron_variant,,ENST00000517434,NM_018919.3;PCDHGA5,intron_variant,,ENST00000518069,NM_018918.2;PCDHGA7,intron_variant,,ENST00000518325,NM_018920.4;PCDHGA11,intron_variant,,ENST00000518882,NM_032092.2;PCDHGB4,intron_variant,,ENST00000519479,NM_003736.4;PCDHGB6,intron_variant,,ENST00000520790,NM_018926.2;PCDHGB2,intron_variant,,ENST00000522605,NM_018923.2;PCDHGB1,intron_variant,,ENST00000523390,NM_018922.2;PCDHGA4,intron_variant,,ENST00000571252,NM_018917.4;PCDHGA9,intron_variant,,ENST00000573521,NM_018921.2;PCDHGB3,intron_variant,,ENST00000576222,NM_018924.5;PCDHGC3,intron_variant,,ENST00000617222,;PCDHGB5,intron_variant,,ENST00000617380,NM_018925.2;PCDHGC3,intron_variant,,ENST00000617641,NM_032403.3;PCDHGC4,intron_variant,,ENST00000618371,;PCDHGC4,downstream_gene_variant,,ENST00000610539,;PCDHGC4,downstream_gene_variant,,ENST00000617094,NM_032406.1;PCDHGC3,intron_variant,,ENST00000622656,;PCDHGA3,intron_variant,,ENST00000612467,;,regulatory_region_variant,,ENSR00001102095,; A ENSG00000240764 ENST00000252087 Transcript missense_variant 825/4797 665/2835 222/944 R/H cGc/cAc rs374663576,COSV52743063 1 NA 1 PCDHGC5 HGNC HGNC:8718 protein_coding YES CCDS4263.1 ENSP00000252087 Q9Y5F6.156 UPI000006D689 NM_018929.3 deleterious(0.01) probably_damaging(0.956) 1/4 Gene3D:2.60.40.60,Pfam:PF00028,PROSITE_profiles:PS50268,PANTHER:PTHR24028,PANTHER:PTHR24028:SF258,SMART:SM00112,Superfamily:SSF49313,CDD:cd11304 NA NA NA NA NA NA NA 0.0004539 NA 0,1 NA NA NA NA MODERATE 1 SNV 1 NA 0,1 NA NA . CGC . 5350.6 0.0001512 0.0003693 5.782e-05 NA NA NA 0.0002551 NA 3.266e-05 141489905 PCDH1 5097 . GRCh38 chr5 141854430 141854430 + Missense_Mutation SNP C C T rs778305630 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3326G>A p.Arg1109His p.R1109H ENST00000287008 5/5 NA NA NA NA NA NA PCDH1,missense_variant,p.Arg1109His,ENST00000287008,NM_032420.5;PCDH1,3_prime_UTR_variant,,ENST00000503492,; T ENSG00000156453 ENST00000287008 Transcript missense_variant 3474/4814 3326/3714 1109/1237 R/H cGc/cAc rs778305630,COSV54616611 1 NA -1 PCDH1 HGNC HGNC:8655 protein_coding YES CCDS4267.1 ENSP00000287008 Q08174.170 UPI000016158F NM_032420.5 deleterious(0.02) probably_damaging(0.999) 5/5 PANTHER:PTHR24028,PANTHER:PTHR24028:SF247,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 5 NA 0,1 NA NA . GCG . 3259.6 NA NA NA NA NA NA NA NA NA 141854430 PCDH12 51294 . GRCh38 chr5 141945390 141945391 + In_Frame_Ins INS - - CTGCTGCTG rs5871792 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3537_3545dup p.Ser1179_Ser1181dup p.S1179_S1181dup ENST00000231484 4/4 NA NA NA NA NA NA PCDH12,inframe_insertion,p.Ser1179_Ser1181dup,ENST00000231484,NM_016580.4;DELE1,downstream_gene_variant,,ENST00000432126,NM_014773.5,NM_001142603.3;,regulatory_region_variant,,ENSR00000771799,; CTGCTGCTG ENSG00000113555 ENST00000231484 Transcript inframe_insertion 3896-3897/5706 3545-3546/3555 1182/1184 R/SSSR agg/agCAGCAGCAGg rs5871792,COSV51519271 1 NA -1 PCDH12 HGNC HGNC:8657 protein_coding YES CCDS4269.1 ENSP00000231484 Q9NPG4.164 UPI00001313B4 NM_016580.4 4/4 MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA 0.3064 0.5807 NA 0.8323 0.4095 0.5716 0.1205 0.1859 0,1 NA NA NA NA MODERATE 1 insertion 1 NA 0,1 NA 1 . ACC . 1933.64 NA NA NA NA NA NA NA NA NA 141945390 SH3RF2 153769 . GRCh38 chr5 146060153 146060153 + Missense_Mutation SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1843C>T p.Pro615Ser p.P615S ENST00000511217 8/10 NA NA NA NA NA NA SH3RF2,missense_variant,p.Pro615Ser,ENST00000511217,;SH3RF2,missense_variant,p.Pro615Ser,ENST00000359120,NM_152550.4;SH3RF2,non_coding_transcript_exon_variant,,ENST00000511705,;SH3RF2,intron_variant,,ENST00000503848,;SH3RF2,downstream_gene_variant,,ENST00000504522,; T ENSG00000156463 ENST00000511217 Transcript missense_variant 1895/5607 1843/2190 615/729 P/S Cca/Tca 1 NA 1 SH3RF2 HGNC HGNC:26299 protein_coding YES CCDS4280.1 ENSP00000424497 Q8TEC5.144 UPI0000457366 tolerated(0.12) benign(0.007) 8/10 Low_complexity_(Seg):seg,MobiDB_lite:mobidb-lite,PANTHER:PTHR14167,PANTHER:PTHR14167:SF60 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . GCC . 1221.6 NA NA NA NA NA NA NA NA NA 146060153 RBM27 54439 . GRCh38 chr5 146267757 146267757 + Frame_Shift_Del DEL A A - rs762006287 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2448del p.Lys816AsnfsTer5 p.K816Nfs*5 ENST00000265271 15/21 NA NA NA NA NA NA RBM27,frameshift_variant,p.Lys816AsnfsTer5,ENST00000265271,NM_018989.2;AC091959.1,frameshift_variant,p.Lys761AsnfsTer5,ENST00000506502,;RBM27,downstream_gene_variant,,ENST00000508019,; - ENSG00000091009 ENST00000265271 Transcript frameshift_variant 2601/6537 2440/3183 814/1060 K/X Aaa/aa rs762006287 1 NA 1 RBM27 HGNC HGNC:29243 protein_coding YES CCDS43378.1 ENSP00000265271 Q9P2N5.154 UPI00001D7F03 NM_018989.2 15/21 Coiled-coils_(Ncoils):Coil,PANTHER:PTHR14398,PANTHER:PTHR14398:SF1 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 8 NA NA . TTAA . 614.64 0.0001092 7.443e-05 0.000326 NA 0.0002807 4.823e-05 6.982e-05 NA 8.41e-05 146267756 POU4F3 5459 . GRCh38 chr5 146339590 146339590 + Missense_Mutation SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.163G>A p.Ala55Thr p.A55T ENST00000646991 2/2 NA NA NA NA NA NA POU4F3,missense_variant,p.Ala55Thr,ENST00000646991,NM_002700.3;AC091959.1,downstream_gene_variant,,ENST00000506502,;AC011396.2,intron_variant,,ENST00000515598,;,TF_binding_site_variant,,ENSM00522637625,;,TF_binding_site_variant,,ENSM00522747696,;,TF_binding_site_variant,,ENSM00522918800,; A ENSG00000091010 ENST00000646991 Transcript missense_variant 437/2575 163/1017 55/338 A/T Gca/Aca 1 NA 1 POU4F3 HGNC HGNC:9220 protein_coding YES CCDS4281.1 ENSP00000495718 Q15319.180 UPI0000131D91 NM_002700.3 deleterious(0.01) benign(0.08) 2/2 Low_complexity_(Seg):seg,PANTHER:PTHR11636:SF43,PANTHER:PTHR11636 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE NA SNV NA NA NA 1 . GGC . 3576.6 NA NA NA NA NA NA NA NA NA 146339590 TCERG1 10915 . GRCh38 chr5 146503942 146503943 + Frame_Shift_Del DEL GA GA - novel NA HCI-EC-23 NORMAL GA GA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2675_2676del p.Glu892AlafsTer17 p.E892Afs*17 ENST00000296702 18/22 NA NA NA NA NA NA TCERG1,frameshift_variant,p.Glu892AlafsTer17,ENST00000296702,NM_001382548.1,NM_006706.4;TCERG1,frameshift_variant,p.Glu871AlafsTer17,ENST00000394421,NM_001040006.2;TCERG1,non_coding_transcript_exon_variant,,ENST00000509787,;TCERG1,non_coding_transcript_exon_variant,,ENST00000514567,;TCERG1,non_coding_transcript_exon_variant,,ENST00000503741,;TCERG1,downstream_gene_variant,,ENST00000504116,;TCERG1,frameshift_variant,p.Glu892AlafsTer17,ENST00000549332,;TCERG1,non_coding_transcript_exon_variant,,ENST00000506524,;TCERG1,non_coding_transcript_exon_variant,,ENST00000514719,;TCERG1,downstream_gene_variant,,ENST00000505285,;TCERG1,upstream_gene_variant,,ENST00000511077,; - ENSG00000113649 ENST00000296702 Transcript frameshift_variant 2704-2705/4654 2666-2667/3297 889/1098 R/X cGA/c 1 NA 1 TCERG1 HGNC HGNC:15630 protein_coding YES CCDS4282.1 ENSP00000296702 O14776.181 UPI000013E374 NM_001382548.1,NM_006706.4 18/22 Gene3D:1.10.10.440,PDB-ENSP_mappings:2dof.A,Coiled-coils_(Ncoils):Coil,PANTHER:PTHR15377,Superfamily:SSF81698,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 9 NA NA . TCGAG . 720.6 NA NA NA NA NA NA NA NA NA 146503941 TCERG1 10915 . GRCh38 chr5 146507160 146507160 + Frame_Shift_Del DEL A A - rs758822980 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2870del p.Lys957ArgfsTer17 p.K957Rfs*17 ENST00000296702 19/22 NA NA NA NA NA NA TCERG1,frameshift_variant,p.Lys957ArgfsTer17,ENST00000296702,NM_001382548.1,NM_006706.4;TCERG1,frameshift_variant,p.Lys936ArgfsTer17,ENST00000394421,NM_001040006.2;AC011375.1,upstream_gene_variant,,ENST00000613756,;TCERG1,non_coding_transcript_exon_variant,,ENST00000514567,;TCERG1,non_coding_transcript_exon_variant,,ENST00000503741,;TCERG1,downstream_gene_variant,,ENST00000504116,;TCERG1,downstream_gene_variant,,ENST00000509787,;TCERG1,frameshift_variant,p.Lys957ArgfsTer17,ENST00000549332,;TCERG1,non_coding_transcript_exon_variant,,ENST00000506524,;TCERG1,non_coding_transcript_exon_variant,,ENST00000514719,;TCERG1,downstream_gene_variant,,ENST00000505285,;TCERG1,upstream_gene_variant,,ENST00000511077,; - ENSG00000113649 ENST00000296702 Transcript frameshift_variant 2901/4654 2863/3297 955/1098 K/X Aaa/aa rs758822980 1 NA 1 TCERG1 HGNC HGNC:15630 protein_coding YES CCDS4282.1 ENSP00000296702 O14776.181 UPI000013E374 NM_001382548.1,NM_006706.4 19/22 Gene3D:1.10.10.440,PDB-ENSP_mappings:2dof.A,PDB-ENSP_mappings:4fqg.A,PDB-ENSP_mappings:4fqg.B,PROSITE_profiles:PS51676,PANTHER:PTHR15377,SMART:SM00441,Superfamily:SSF81698,Superfamily:SSF81698 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 7 NA NA . CCAA . 1559.6 6.534e-05 NA 3.386e-05 NA 0.0001224 NA 3.759e-05 0.0001843 0.0002655 146507159 PPP2R2B 5521 . GRCh38 chr5 147055727 147055727 + Silent SNP C C T rs777603267 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.12G>A p.Ser4= p.S4= ENST00000394414 1/10 NA NA NA NA NA NA PPP2R2B,missense_variant,p.Arg6His,ENST00000336640,NM_181677.2,NM_181676.2;PPP2R2B,synonymous_variant,p.Ser4=,ENST00000394414,NM_181674.2;PPP2R2B,intron_variant,,ENST00000394413,NM_001271900.2;PPP2R2B,intron_variant,,ENST00000504198,NM_001271899.1;PPP2R2B,intron_variant,,ENST00000508267,;PPP2R2B,non_coding_transcript_exon_variant,,ENST00000522831,;PPP2R2B,intron_variant,,ENST00000509721,;PPP2R2B,missense_variant,p.Arg6His,ENST00000515880,;PPP2R2B,missense_variant,p.Arg6His,ENST00000512011,;PPP2R2B,intron_variant,,ENST00000504565,;,regulatory_region_variant,,ENSR00000772893,; T ENSG00000156475 ENST00000394414 Transcript synonymous_variant 301/2262 12/1530 4/509 S tcG/tcA rs777603267,COSV60764075 1 NA -1 PPP2R2B HGNC HGNC:9305 protein_coding YES CCDS4284.2 ENSP00000377936 Q00005.199 UPI00005A7962 NM_181674.2 1/10 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA LOW 1 SNV 1 NA 0,1 NA 1 . ACG . 546.6 1.612e-05 NA NA 0.0001992 NA NA 1.805e-05 NA NA 147055727 CSF1R 1436 . GRCh38 chr5 150054178 150054178 + Missense_Mutation SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2810G>A p.Ser937Asn p.S937N ENST00000286301 22/22 NA NA NA NA NA NA CSF1R,missense_variant,p.Ser937Asn,ENST00000286301,NM_005211.3,NM_001375321.1,NM_001375320.1;CSF1R,missense_variant,p.Ser937Asn,ENST00000675795,NM_001349736.1,NM_001288705.3;HMGXB3,downstream_gene_variant,,ENST00000502717,NM_014983.3,NM_001366501.2;HMGXB3,downstream_gene_variant,,ENST00000503427,;HMGXB3,downstream_gene_variant,,ENST00000613459,;CSF1R,3_prime_UTR_variant,,ENST00000504875,;CSF1R,non_coding_transcript_exon_variant,,ENST00000509861,;HMGXB3,downstream_gene_variant,,ENST00000510472,;CSF1R,downstream_gene_variant,,ENST00000515068,; T ENSG00000182578 ENST00000286301 Transcript missense_variant 3102/3989 2810/2919 937/972 S/N aGc/aAc 1 NA -1 CSF1R HGNC HGNC:2433 protein_coding YES CCDS4302.1 ENSP00000286301 P07333.224 UPI000004984A NM_005211.3,NM_001375321.1,NM_001375320.1 tolerated(0.48) benign(0.038) 22/22 Low_complexity_(Seg):seg,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite,PANTHER:PTHR24416:SF47,PANTHER:PTHR24416,PIRSF:PIRSF500947,PIRSF:PIRSF000615 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . GCT . 2164.6 NA NA NA NA NA NA NA NA NA 150054178 SLC6A7 6534 . GRCh38 chr5 150217609 150217609 + Missense_Mutation SNP C C T rs1039981935 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1895C>T p.Thr632Met p.T632M ENST00000524041 15/16 NA NA NA NA NA NA SLC6A7,missense_variant,p.Thr632Met,ENST00000524041,;CAMK2A,downstream_gene_variant,,ENST00000348628,NM_171825.2;CAMK2A,downstream_gene_variant,,ENST00000510347,;CAMK2A,downstream_gene_variant,,ENST00000671881,NM_001363989.1,NM_015981.4;CAMK2A,downstream_gene_variant,,ENST00000672396,;CAMK2A,downstream_gene_variant,,ENST00000672479,NM_001363990.1;CAMK2A,downstream_gene_variant,,ENST00000672752,NM_001369025.2;CAMK2A,downstream_gene_variant,,ENST00000672785,;CAMK2A,downstream_gene_variant,,ENST00000672829,;CAMK2A,downstream_gene_variant,,ENST00000351010,;CAMK2A,downstream_gene_variant,,ENST00000672089,;,regulatory_region_variant,,ENSR00000317905,;,regulatory_region_variant,,ENSR00000773676,; T ENSG00000011083 ENST00000524041 Transcript missense_variant 2138/2431 1895/2001 632/666 T/M aCg/aTg rs1039981935 1 NA 1 SLC6A7 HGNC HGNC:11054 protein_coding YES ENSP00000428200 E5RJL1.60 UPI0001E8F1D3 deleterious_low_confidence(0.02) benign(0) 15/16 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . ACG . 4471.6 5.451e-05 NA NA NA 0.0003833 NA 6.292e-05 NA NA 150217609 FAT2 2196 . GRCh38 chr5 151542337 151542337 + Silent SNP G G C novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.8790C>G p.Thr2930= p.T2930= ENST00000261800 9/23 NA NA NA NA NA NA FAT2,synonymous_variant,p.Thr2930=,ENST00000261800,NM_001447.2; C ENSG00000086570 ENST00000261800 Transcript synonymous_variant 8803/14534 8790/13050 2930/4349 T acC/acG 1 NA -1 FAT2 HGNC HGNC:3596 protein_coding YES CCDS4317.1 ENSP00000261800 Q9NYQ8.181 UPI0000055B22 NM_001447.2 9/23 Gene3D:2.60.40.60,Pfam:PF00028,PROSITE_profiles:PS50268,PANTHER:PTHR24026,PANTHER:PTHR24026:SF37,SMART:SM00112,Superfamily:SSF49313,CDD:cd11304 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . GGG . 3344.6 NA NA NA NA NA NA NA NA NA 151542337 THG1L 54974 . GRCh38 chr5 157737994 157737994 + Missense_Mutation SNP G G T novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.735G>T p.Lys245Asn p.K245N ENST00000231198 5/6 NA NA NA NA NA NA THG1L,missense_variant,p.Lys245Asn,ENST00000231198,NM_017872.5,NM_001317825.2,NM_001317824.2,NM_001317826.2;THG1L,missense_variant,p.Lys29Asn,ENST00000523575,;THG1L,splice_region_variant,,ENST00000521655,; T ENSG00000113272 ENST00000231198 Transcript missense_variant,splice_region_variant 756/2885 735/897 245/298 K/N aaG/aaT 1 NA 1 THG1L HGNC HGNC:26053 protein_coding YES CCDS4341.1 ENSP00000231198 Q9NWX6.151 UPI0000073782 NM_017872.5,NM_001317825.2,NM_001317824.2,NM_001317826.2 tolerated(0.11) benign(0.137) 5/6 PDB-ENSP_mappings:3otb.A,PDB-ENSP_mappings:3otb.B,PDB-ENSP_mappings:3otc.A,PDB-ENSP_mappings:3otc.B,PDB-ENSP_mappings:3otd.A,PDB-ENSP_mappings:3otd.B,PDB-ENSP_mappings:3ote.A,PDB-ENSP_mappings:3ote.B,PANTHER:PTHR12729,PANTHER:PTHR12729:SF6,Pfam:PF14413,PIRSF:PIRSF028980,Gene3D:3.30.70.3000 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . AGG . 886.6 NA NA NA NA NA NA NA NA NA 157737994 CLINT1 9685 . GRCh38 chr5 157787776 157787776 + Missense_Mutation SNP A A G rs1446893854 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1802T>C p.Ile601Thr p.I601T ENST00000523908 12/12 NA NA NA NA NA NA CLINT1,missense_variant,p.Ile583Thr,ENST00000523094,NM_001195556.2;CLINT1,missense_variant,p.Ile583Thr,ENST00000411809,NM_014666.4;CLINT1,missense_variant,p.Ile583Thr,ENST00000530742,;CLINT1,missense_variant,p.Ile601Thr,ENST00000523908,NM_001195555.2;CLINT1,3_prime_UTR_variant,,ENST00000522381,;CLINT1,downstream_gene_variant,,ENST00000521615,;CLINT1,3_prime_UTR_variant,,ENST00000521047,;CLINT1,non_coding_transcript_exon_variant,,ENST00000518855,;CLINT1,non_coding_transcript_exon_variant,,ENST00000524306,;CLINT1,downstream_gene_variant,,ENST00000530302,; G ENSG00000113282 ENST00000523908 Transcript missense_variant 1975/2346 1802/1932 601/643 I/T aTa/aCa rs1446893854 1 NA -1 CLINT1 HGNC HGNC:23186 protein_coding YES CCDS56389.1 ENSP00000429824 Q14677.191 A0A0S2Z5H3.26 UPI00003E6460 NM_001195555.2 tolerated(0.23) benign(0.009) 12/12 Low_complexity_(Seg):seg,PANTHER:PTHR12276,PANTHER:PTHR12276:SF83 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . TAT . 4531.6 4.016e-06 NA NA NA 5.567e-05 NA NA NA NA 157787776 ATP10B 23120 . GRCh38 chr5 160622400 160622400 + Missense_Mutation SNP C C A novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1806G>T p.Arg602Ser p.R602S ENST00000327245 14/26 NA NA NA NA NA NA ATP10B,missense_variant,p.Arg602Ser,ENST00000327245,NM_001366652.1,NM_001366657.1,NM_001366655.1,NM_025153.3;ATP10B,missense_variant,p.Arg574Ser,ENST00000642502,;ATP10B,missense_variant,p.Arg210Ser,ENST00000520108,;AC008456.1,intron_variant,,ENST00000523598,; A ENSG00000118322 ENST00000327245 Transcript missense_variant 2652/7565 1806/4386 602/1461 R/S agG/agT 1 NA -1 ATP10B HGNC HGNC:13543 protein_coding YES CCDS43394.1 ENSP00000313600 O94823.175 UPI0000191DAE NM_001366652.1,NM_001366657.1,NM_001366655.1,NM_025153.3 tolerated(0.06) probably_damaging(0.927) 14/26 SFLD:SFLDF00027,SFLD:SFLDS00003,CDD:cd02073,PANTHER:PTHR24092:SF79,PANTHER:PTHR24092,TIGRFAM:TIGR01652,Superfamily:SSF81665,Superfamily:SSF56784 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . GCC . 2538.6 NA NA NA NA NA NA NA NA NA 160622400 NKX2-5 1482 . GRCh38 chr5 173232913 173232913 + Missense_Mutation SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.631C>T p.Pro211Ser p.P211S ENST00000329198 2/2 NA NA NA NA NA NA NKX2-5,missense_variant,p.Pro211Ser,ENST00000329198,NM_004387.4;NKX2-5,3_prime_UTR_variant,,ENST00000424406,NM_001166175.2;NKX2-5,3_prime_UTR_variant,,ENST00000521848,NM_001166176.2;NKX2-5,downstream_gene_variant,,ENST00000517440,; A ENSG00000183072 ENST00000329198 Transcript missense_variant 754/1558 631/975 211/324 P/S Ccg/Tcg 1 NA -1 NKX2-5 HGNC HGNC:2488 protein_coding YES CCDS4387.1 ENSP00000327758 P52952.208 A0A0S2Z383.31 UPI0000062197 NM_004387.4 tolerated(0.27) benign(0.039) 2/2 PANTHER:PTHR24340:SF28,PANTHER:PTHR24340,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . GGC . 4379.6 NA NA NA NA NA NA NA NA NA 173232913 GPRIN1 114787 . GRCh38 chr5 176597410 176597410 + Missense_Mutation SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2425C>T p.Arg809Cys p.R809C ENST00000303991 2/2 NA NA NA NA NA NA GPRIN1,missense_variant,p.Arg809Cys,ENST00000303991,NM_052899.3;CDHR2,downstream_gene_variant,,ENST00000261944,NM_017675.5;CDHR2,downstream_gene_variant,,ENST00000510636,NM_001171976.1;CDHR2,downstream_gene_variant,,ENST00000506348,;,regulatory_region_variant,,ENSR00000779020,;,TF_binding_site_variant,,ENSM00189744407,; A ENSG00000169258 ENST00000303991 Transcript missense_variant 2626/4234 2425/3027 809/1008 R/C Cgc/Tgc 1 NA -1 GPRIN1 HGNC HGNC:24835 protein_coding YES CCDS4405.1 ENSP00000305839 Q7Z2K8.137 UPI0000246D49 NM_052899.3 deleterious(0) benign(0.027) 2/2 PANTHER:PTHR15718,PANTHER:PTHR15718:SF7,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CGC . 3218.6 NA NA NA NA NA NA NA NA NA 176597410 NSD1 64324 . GRCh38 chr5 177248268 177248268 + Frame_Shift_Del DEL A A - novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4591del p.Met1531CysfsTer43 p.M1531Cfs*43 ENST00000439151 11/23 NA NA NA NA NA NA NSD1,frameshift_variant,p.Met1531CysfsTer43,ENST00000439151,NM_022455.5;NSD1,frameshift_variant,p.Met1262CysfsTer43,ENST00000354179,NM_172349.2;NSD1,frameshift_variant,p.Met1262CysfsTer43,ENST00000347982,NM_001365684.1; - ENSG00000165671 ENST00000439151 Transcript frameshift_variant 4782/13042 4585/8091 1529/2696 K/X Aaa/aa 1 NA 1 NSD1 HGNC HGNC:14234 protein_coding YES CCDS4412.1 ENSP00000395929 Q96L73.187 UPI000006F9C6 NM_022455.5 11/23 PANTHER:PTHR22884,PANTHER:PTHR22884:SF312 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 6 NA 1 . CTAA . 4339.6 NA NA NA NA NA NA NA NA NA 177248267 GRK6 2870 . GRCh38 chr5 177432100 177432101 + Frame_Shift_Ins INS - - T novel NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.255dup p.Gly86TrpfsTer6 p.G86Wfs*6 ENST00000528793 3/16 NA NA NA NA NA NA GRK6,frameshift_variant,p.Gly86TrpfsTer6,ENST00000355472,NM_001004106.3,NM_001364164.2;GRK6,frameshift_variant,p.Gly86TrpfsTer6,ENST00000393576,;GRK6,frameshift_variant,p.Gly86TrpfsTer6,ENST00000528793,NM_002082.3;GRK6,frameshift_variant,p.Gly86TrpfsTer6,ENST00000355958,NM_001004105.3;GRK6,frameshift_variant,p.Gly86TrpfsTer6,ENST00000507633,;GRK6,frameshift_variant,p.Gly54TrpfsTer6,ENST00000506296,;GRK6,frameshift_variant,p.Gly54TrpfsTer6,ENST00000502598,;GRK6,frameshift_variant,p.Gly54TrpfsTer6,ENST00000511244,;GRK6,downstream_gene_variant,,ENST00000512684,;GRK6,non_coding_transcript_exon_variant,,ENST00000515666,;GRK6,upstream_gene_variant,,ENST00000508705,;,regulatory_region_variant,,ENSR00000191338,; T ENSG00000198055 ENST00000528793 Transcript frameshift_variant 257-258/2571 254-255/1770 85/589 D/DX gat/gaTt 1 NA 1 GRK6 HGNC HGNC:4545 protein_coding YES ENSP00000433511 P43250.196 UPI000002AAC9 NM_002082.3 3/16 Pfam:PF00615,Gene3D:3.30.200.20,Gene3D:1.10.167.10,SMART:SM00315,Superfamily:SSF48097,PROSITE_profiles:PS50132,PANTHER:PTHR24355,PANTHER:PTHR24355:SF15 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 insertion 1 1 NA NA . GAT . 4114.64 NA NA NA NA NA NA NA NA NA 177432100 IRF4 3662 . GRCh38 chr6 393300 393300 + Missense_Mutation SNP T T C novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.148T>C p.Phe50Leu p.F50L ENST00000380956 2/9 NA NA NA NA NA NA IRF4,missense_variant,p.Phe50Leu,ENST00000380956,NM_002460.4,NM_001195286.2;IRF4,non_coding_transcript_exon_variant,,ENST00000469834,;IRF4,intron_variant,,ENST00000468485,;IRF4,intron_variant,,ENST00000495137,;IRF4,missense_variant,p.Phe50Leu,ENST00000493114,;,regulatory_region_variant,,ENSR00000191825,;,TF_binding_site_variant,,ENSM00248252164,;,TF_binding_site_variant,,ENSM00461296863,; C ENSG00000137265 ENST00000380956 Transcript missense_variant 261/5314 148/1356 50/451 F/L Ttc/Ctc 1 NA 1 IRF4 HGNC HGNC:6119 protein_coding YES CCDS4469.1 ENSP00000370343 Q15306.199 UPI000012D88B NM_002460.4,NM_001195286.2 deleterious(0) probably_damaging(1) 2/9 PROSITE_patterns:PS00601,PDB-ENSP_mappings:2dll.A,CDD:cd00103,Gene3D:1.10.10.10,Pfam:PF00605,SMART:SM00348,Superfamily:SSF46785,PROSITE_profiles:PS51507,PANTHER:PTHR11949,PANTHER:PTHR11949:SF6,Prints:PR00267 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . CTT . 3735.6 NA NA NA NA NA NA NA NA NA 393300 EXOC2 55770 . GRCh38 chr6 610165 610165 + Frame_Shift_Del DEL T T - novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.675del p.Lys225AsnfsTer2 p.K225Nfs*2 ENST00000230449 7/28 NA NA NA NA NA NA EXOC2,frameshift_variant,p.Lys225AsnfsTer2,ENST00000230449,NM_018303.6; - ENSG00000112685 ENST00000230449 Transcript frameshift_variant 839/4456 675/2775 225/924 K/X aaA/aa 1 NA -1 EXOC2 HGNC HGNC:24968 protein_coding YES CCDS34327.1 ENSP00000230449 Q96KP1.174 A0A024QZT2.50 UPI000003E7E3 NM_018303.6 7/28 PANTHER:PTHR13043,PANTHER:PTHR13043:SF1,Pfam:PF15469 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 NA NA NA . AGTT . 1247.6 NA NA NA NA NA NA NA NA NA 610164 FOXF2 2295 . GRCh38 chr6 1390091 1390091 + Silent SNP C C G rs748534796 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.144C>G p.Ser48= p.S48= ENST00000645481 1/2 NA NA NA NA NA NA FOXF2,synonymous_variant,p.Ser48=,ENST00000645481,NM_001452.2;MIR6720,downstream_gene_variant,,ENST00000611664,;,regulatory_region_variant,,ENSR00000191935,; G ENSG00000137273 ENST00000645481 Transcript synonymous_variant 516/2451 144/1335 48/444 S tcC/tcG rs748534796 1 NA 1 FOXF2 HGNC HGNC:3810 protein_coding YES CCDS4472.1 ENSP00000496415 Q12947.162 UPI000012ADD6 NM_001452.2 1/2 Low_complexity_(Seg):seg,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite,PANTHER:PTHR46262:SF3,PANTHER:PTHR46262 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV NA NA NA NA . CCT . 271.6 2.377e-05 NA NA NA NA NA 3.327e-05 NA 5.93e-05 1390091 TUBB2A 7280 . GRCh38 chr6 3154439 3154439 + Silent SNP C C A rs375922908 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.762G>T p.Ala254= p.A254= ENST00000333628 4/4 NA NA NA NA NA NA TUBB2A,synonymous_variant,p.Ala254=,ENST00000333628,NM_001069.3,NM_001310315.2;BPHL,downstream_gene_variant,,ENST00000380375,;BPHL,downstream_gene_variant,,ENST00000380379,NM_004332.4;BPHL,downstream_gene_variant,,ENST00000423798,;BPHL,downstream_gene_variant,,ENST00000434640,NM_001302777.1;AL031963.1,upstream_gene_variant,,ENST00000447644,;BPHL,downstream_gene_variant,,ENST00000464040,;TUBB2A,downstream_gene_variant,,ENST00000489942,;BPHL,downstream_gene_variant,,ENST00000424847,;BPHL,downstream_gene_variant,,ENST00000430655,;BPHL,downstream_gene_variant,,ENST00000433912,;BPHL,downstream_gene_variant,,ENST00000488487,;BPHL,downstream_gene_variant,,ENST00000490918,;,regulatory_region_variant,,ENSR00000192183,; A ENSG00000137267 ENST00000333628 Transcript synonymous_variant 843/1616 762/1338 254/445 A gcG/gcT rs375922908 1 NA -1 TUBB2A HGNC HGNC:12412 protein_coding YES CCDS4484.1 ENSP00000369703 Q13885.188 UPI000000DC98 NM_001069.3,NM_001310315.2 4/4 Gene3D:3.40.50.1440,Prints:PR01163,PANTHER:PTHR11588,PANTHER:PTHR11588:SF100,SMART:SM00865,Superfamily:SSF55307,CDD:cd02187 NA NA NA NA NA NA NA NA 0.0003624 likely_benign NA NA NA NA LOW 1 SNV 1 NA 1 NA 1 . CCG . 1690.6 6.748e-05 0.0001517 NA NA NA 0.0001009 0.0001153 NA NA 3154439 BMP6 654 . GRCh38 chr6 7727296 7727296 + Missense_Mutation SNP A A G rs377443730 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.341A>G p.Gln114Arg p.Q114R ENST00000283147 1/7 NA NA NA NA NA NA BMP6,missense_variant,p.Gln114Arg,ENST00000283147,NM_001718.6;,regulatory_region_variant,,ENSR00000319381,; G ENSG00000153162 ENST00000283147 Transcript missense_variant 1198/3784 341/1542 114/513 Q/R cAg/cGg rs377443730 1 NA 1 BMP6 HGNC HGNC:1073 protein_coding YES CCDS4503.1 ENSP00000283147 P22004.189 UPI0000126A2D NM_001718.6 tolerated_low_confidence(0.58) benign(0) 1/7 Pfam:PF00688,PANTHER:PTHR11848,PANTHER:PTHR11848:SF137,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA 0.0001282 NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . CAG . 3679.6 8.87e-05 NA 8.943e-05 NA NA NA 0.0001737 NA NA 7727296 BMP6 654 . GRCh38 chr6 7845259 7845259 + Missense_Mutation SNP T T C novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.784T>C p.Cys262Arg p.C262R ENST00000283147 2/7 NA NA NA NA NA NA BMP6,missense_variant,p.Cys262Arg,ENST00000283147,NM_001718.6; C ENSG00000153162 ENST00000283147 Transcript missense_variant 1641/3784 784/1542 262/513 C/R Tgt/Cgt 1 NA 1 BMP6 HGNC HGNC:1073 protein_coding YES CCDS4503.1 ENSP00000283147 P22004.189 UPI0000126A2D NM_001718.6 tolerated(0.39) benign(0.066) 2/7 Gene3D:2.60.120.970,Pfam:PF00688,PANTHER:PTHR11848,PANTHER:PTHR11848:SF137 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . CTG . 3052.6 NA NA NA NA NA NA NA NA NA 7845259 TFAP2A 7020 . GRCh38 chr6 10406800 10406800 + Silent SNP A A G novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.531T>C p.Ile177= p.I177= ENST00000379613 3/7 NA NA NA NA NA NA TFAP2A,synonymous_variant,p.Ile169=,ENST00000379608,NM_001032280.3;TFAP2A,synonymous_variant,p.Ile177=,ENST00000379613,NM_001372066.1;TFAP2A,synonymous_variant,p.Ile177=,ENST00000482890,;TFAP2A,synonymous_variant,p.Ile171=,ENST00000319516,NM_001042425.2;TFAP2A,synonymous_variant,p.Ile175=,ENST00000466073,;TFAP2A,synonymous_variant,p.Ile80=,ENST00000475264,;TFAP2A,synonymous_variant,p.Ile32=,ENST00000498450,;TFAP2A,upstream_gene_variant,,ENST00000461628,;TFAP2A,downstream_gene_variant,,ENST00000465858,;TFAP2A-AS2,non_coding_transcript_exon_variant,,ENST00000645232,;TFAP2A-AS1,upstream_gene_variant,,ENST00000420777,;TFAP2A,non_coding_transcript_exon_variant,,ENST00000497266,;TFAP2A,non_coding_transcript_exon_variant,,ENST00000490875,;TFAP2A,non_coding_transcript_exon_variant,,ENST00000473652,;TFAP2A,non_coding_transcript_exon_variant,,ENST00000462727,;TFAP2A,3_prime_UTR_variant,,ENST00000489805,;TFAP2A,3_prime_UTR_variant,,ENST00000488193,;TFAP2A,non_coding_transcript_exon_variant,,ENST00000474952,;TFAP2A,non_coding_transcript_exon_variant,,ENST00000478375,;TFAP2A,downstream_gene_variant,,ENST00000464323,;,regulatory_region_variant,,ENSR00000192992,; G ENSG00000137203 ENST00000379613 Transcript synonymous_variant 614/3143 531/1320 177/439 I atT/atC 1 NA -1 TFAP2A HGNC HGNC:11742 protein_coding YES ENSP00000368933 P05549.201 UPI0000070A5B NM_001372066.1 3/7 PANTHER:PTHR10812,PANTHER:PTHR10812:SF8 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . TAA . 3825.6 NA NA NA NA NA NA NA NA NA 10406800 TMEM14C 51522 . GRCh38 chr6 10725962 10725962 + Silent SNP T T C novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.153T>C p.Gly51= p.G51= ENST00000541412 4/6 NA NA NA NA NA NA TMEM14C,synonymous_variant,p.Gly51=,ENST00000541412,NM_001165258.1;TMEM14C,synonymous_variant,p.Gly51=,ENST00000229563,NM_016462.4;TMEM14C,non_coding_transcript_exon_variant,,ENST00000467415,;TMEM14C,non_coding_transcript_exon_variant,,ENST00000495549,;TMEM14C,non_coding_transcript_exon_variant,,ENST00000466421,; C ENSG00000111843 ENST00000541412 Transcript synonymous_variant 538/1177 153/339 51/112 G ggT/ggC 1 NA 1 TMEM14C HGNC HGNC:20952 protein_coding YES CCDS4514.1 ENSP00000444561 Q9P0S9.144 A0A024R001.49 UPI000003BBD6 NM_001165258.1 4/6 PDB-ENSP_mappings:2los.A,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PANTHER:PTHR12668,PANTHER:PTHR12668:SF4,Gene3D:1.20.58.1140,Pfam:PF03647 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 2 NA NA NA . GTG . 2747.6 NA NA NA NA NA NA NA NA NA 10725962 ELOVL2 54898 . GRCh38 chr6 10989814 10989814 + Silent SNP C C T rs371434779 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.654G>A p.Thr218= p.T218= ENST00000354666 7/8 NA NA NA NA NA NA ELOVL2,synonymous_variant,p.Thr218=,ENST00000354666,NM_017770.4; T ENSG00000197977 ENST00000354666 Transcript synonymous_variant 729/3988 654/891 218/296 T acG/acA rs371434779 1 NA -1 ELOVL2 HGNC HGNC:14416 protein_coding YES CCDS4518.1 ENSP00000346693 Q9NXB9.144 A0A024QZV3.39 UPI0000051C66 NM_017770.4 7/8 Pfam:PF01151,PANTHER:PTHR11157,PANTHER:PTHR11157:SF16,HAMAP:MF_03202,Transmembrane_helices:TMhelix NA NA NA NA NA NA NA NA 0.0004651 NA NA NA NA LOW 1 SNV 1 NA NA NA . GCG . 763.6 3.978e-05 NA NA NA NA NA 8.796e-05 NA NA 10989814 NEDD9 4739 . GRCh38 chr6 11185200 11185200 + Silent SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2467C>T p.Leu823= p.L823= ENST00000379446 7/7 NA NA NA NA NA NA NEDD9,synonymous_variant,p.Leu823=,ENST00000379446,NM_006403.4;NEDD9,synonymous_variant,p.Leu674=,ENST00000620854,NM_001271033.1;NEDD9,synonymous_variant,p.Leu823=,ENST00000504387,NM_001142393.1;AL139807.1,non_coding_transcript_exon_variant,,ENST00000500636,;NEDD9,3_prime_UTR_variant,,ENST00000448183,; A ENSG00000111859 ENST00000379446 Transcript synonymous_variant 2620/4522 2467/2505 823/834 L Ctg/Ttg 1 NA -1 NEDD9 HGNC HGNC:7733 protein_coding YES CCDS4520.1 ENSP00000368759 Q14511.207 UPI000000D981 NM_006403.4 7/7 CDD:cd11570,PANTHER:PTHR10654,PANTHER:PTHR10654:SF20,Pfam:PF12026,Gene3D:1.20.120.230 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . AGC . 1531.6 NA NA NA NA NA NA NA NA NA 11185200 PHACTR1 221692 . GRCh38 chr6 13184838 13184838 + Missense_Mutation SNP T T C novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.581T>C p.Leu194Pro p.L194P ENST00000675203 5/13 NA NA NA NA NA NA PHACTR1,missense_variant,p.Leu194Pro,ENST00000675203,NM_001322314.4;PHACTR1,missense_variant,p.Leu121Pro,ENST00000434977,;PHACTR1,intron_variant,,ENST00000332995,NM_030948.6,NM_001242648.4,NM_001322308.3;PHACTR1,intron_variant,,ENST00000482982,;PHACTR1,intron_variant,,ENST00000674595,NM_001374581.2;PHACTR1,intron_variant,,ENST00000674637,NM_001322309.3,NM_001322310.2;PHACTR1,intron_variant,,ENST00000676159,;PHACTR1,intron_variant,,ENST00000676234,NM_001322313.2,NM_001322312.3,NM_001322311.2,NM_001374583.2;PHACTR1,downstream_gene_variant,,ENST00000406205,;PHACTR1,intron_variant,,ENST00000674953,;PHACTR1,intron_variant,,ENST00000379350,; C ENSG00000112137 ENST00000675203 Transcript missense_variant 1040/3045 581/1827 194/608 L/P cTc/cCc 1 NA 1 PHACTR1 HGNC HGNC:20990 protein_coding YES ENSP00000502172 NM_001322314.4 tolerated(0.3) possibly_damaging(0.796) 5/13 PANTHER:PTHR12751,PANTHER:PTHR12751:SF6 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV NA NA NA 1 . CTC . 2736.6 NA NA NA NA NA NA NA NA NA 13184838 ATXN1 6310 . GRCh38 chr6 16306415 16306415 + Frame_Shift_Del DEL C C - NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2362del p.Glu788AsnfsTer4 p.E788Nfs*4 ENST00000244769 9/9 NA NA NA NA NA NA ATXN1,frameshift_variant,p.Glu788AsnfsTer4,ENST00000244769,NM_000332.3;ATXN1,frameshift_variant,p.Glu788AsnfsTer4,ENST00000436367,NM_001128164.2;,regulatory_region_variant,,ENSR00001107624,; - ENSG00000124788 ENST00000244769 Transcript frameshift_variant 3299/10602 2362/2448 788/815 E/X Gaa/aa COSV55217112 1 NA -1 ATXN1 HGNC HGNC:10548 protein_coding YES CCDS34342.1 ENSP00000244769 P54253.195 UPI000013CB8B NM_000332.3 9/9 MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite,PANTHER:PTHR13392,PANTHER:PTHR13392:SF5 NA NA NA NA NA NA NA NA NA 1 NA NA NA NA HIGH 1 deletion 1 NA 1 NA 1 . TTCG . 1612.6 NA NA NA NA NA NA NA NA NA 16306414 ATXN1 6310 . GRCh38 chr6 16327633 16327634 + In_Frame_Ins INS - - TGC rs751421308 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.675_677dup p.Gln225dup p.Q225dup ENST00000244769 8/9 NA NA NA NA NA NA ATXN1,inframe_insertion,p.Gln225dup,ENST00000244769,NM_000332.3;ATXN1,inframe_insertion,p.Gln225dup,ENST00000436367,NM_001128164.2;ATXN1,downstream_gene_variant,,ENST00000642969,NM_001357857.2; TGC ENSG00000124788 ENST00000244769 Transcript inframe_insertion 1614-1615/10602 677-678/2448 226/815 H/QH cac/caGCAc rs751421308 1 NA -1 ATXN1 HGNC HGNC:10548 protein_coding YES CCDS34342.1 ENSP00000244769 P54253.195 UPI000013CB8B NM_000332.3 8/9 Low_complexity_(Seg):seg,MobiDB_lite:mobidb-lite,PANTHER:PTHR13392,PANTHER:PTHR13392:SF5 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 insertion 1 NA 1 NA 1 . GGT . 468.64 NA NA NA NA NA NA NA NA NA 16327633 ATXN1 6310 . GRCh38 chr6 16327684 16327685 + In_Frame_Ins INS - - TGC rs193922926 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.624_626dup p.Gln208dup p.Q208dup ENST00000244769 8/9 NA NA NA NA NA NA ATXN1,inframe_insertion,p.Gln208dup,ENST00000244769,NM_000332.3;ATXN1,inframe_insertion,p.Gln208dup,ENST00000436367,NM_001128164.2;ATXN1,downstream_gene_variant,,ENST00000642969,NM_001357857.2; TGC ENSG00000124788 ENST00000244769 Transcript inframe_insertion 1563-1564/10602 626-627/2448 209/815 H/QH cat/caGCAt rs193922926 1 NA -1 ATXN1 HGNC HGNC:10548 protein_coding YES CCDS34342.1 ENSP00000244769 P54253.195 UPI000013CB8B NM_000332.3 8/9 Low_complexity_(Seg):seg,MobiDB_lite:mobidb-lite,Coiled-coils_(Ncoils):Coil,PANTHER:PTHR13392,PANTHER:PTHR13392:SF5 NA NA NA NA NA NA NA NA NA 7951322,8358429,11973625 NA NA NA NA MODERATE 1 insertion 1 NA 1 NA 1 . GAT . 1911.64 NA NA NA NA NA NA NA NA NA 16327684 SLC17A1 6568 . GRCh38 chr6 25813209 25813209 + Silent SNP A A G novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.621T>C p.Ala207= p.A207= ENST00000244527 7/13 NA NA NA NA NA NA SLC17A1,synonymous_variant,p.Ala207=,ENST00000244527,NM_005074.5;SLC17A1,synonymous_variant,p.Ala207=,ENST00000476801,;SLC17A1,synonymous_variant,p.Ala207=,ENST00000468082,;SLC17A1,intron_variant,,ENST00000377886,; G ENSG00000124568 ENST00000244527 Transcript synonymous_variant 730/1819 621/1404 207/467 A gcT/gcC 1 NA -1 SLC17A1 HGNC HGNC:10929 protein_coding YES CCDS4565.1 ENSP00000244527 Q14916.158 UPI00000719C0 NM_005074.5 7/13 Transmembrane_helices:TMhelix,PROSITE_profiles:PS50850,CDD:cd17318,PANTHER:PTHR11662:SF26,PANTHER:PTHR11662,TIGRFAM:TIGR00894,Gene3D:1.20.1250.20,Pfam:PF07690,Superfamily:SSF103473 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . AAG . 3331.6 NA NA NA NA NA NA NA NA NA 25813209 SLC17A2 10246 . GRCh38 chr6 25918534 25918534 + Frame_Shift_Del DEL C C - novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.602del p.Gly201AspfsTer2 p.G201Dfs*2 ENST00000377850 6/12 NA NA NA NA NA NA SLC17A2,frameshift_variant,p.Gly201AspfsTer2,ENST00000377850,NM_001286123.3;SLC17A2,frameshift_variant,p.Gly201AspfsTer2,ENST00000360488,NM_005835.4,NM_001286125.2;SLC17A2,frameshift_variant,p.Gly201AspfsTer2,ENST00000265425,; - ENSG00000112337 ENST00000377850 Transcript frameshift_variant 1135/2524 602/1437 201/478 G/X gGa/ga 1 NA -1 SLC17A2 HGNC HGNC:10930 protein_coding YES CCDS69060.1 ENSP00000367081 O00624.147 UPI000052BFEE NM_001286123.3 6/12 Pfam:PF07690,PROSITE_profiles:PS50850,PANTHER:PTHR11662,PANTHER:PTHR11662:SF193,Superfamily:SSF103473,Transmembrane_helices:TMhelix,CDD:cd17318 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 5 NA NA NA . GTCC . 590.6 NA NA NA NA NA NA NA NA NA 25918533 TRIM38 10475 . GRCh38 chr6 25983423 25983423 + Silent SNP T T G novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1134T>G p.Pro378= p.P378= ENST00000357085 8/8 NA NA NA NA NA NA TRIM38,synonymous_variant,p.Pro378=,ENST00000357085,NM_006355.5;U91328.2,downstream_gene_variant,,ENST00000608931,; G ENSG00000112343 ENST00000357085 Transcript synonymous_variant 1610/9418 1134/1398 378/465 P ccT/ccG 1 NA 1 TRIM38 HGNC HGNC:10059 protein_coding YES CCDS4568.1 ENSP00000349596 O00635.184 A0A024QZY4.55 UPI000013431A NM_006355.5 8/8 Gene3D:2.60.120.920,Pfam:PF00622,PROSITE_profiles:PS50188,PANTHER:PTHR24103,PANTHER:PTHR24103:SF47,SMART:SM00449,Superfamily:SSF49899,CDD:cd15815 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . CTC . 3049.6 NA NA NA NA NA NA NA NA NA 25983423 AL031777.2 0 . GRCh38 chr6 26199172 26199172 + Silent SNP G G C rs150465023 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.72C>G p.Leu24= p.L24= ENST00000635200 1/2 NA NA NA NA NA NA AL031777.2,synonymous_variant,p.Leu24=,ENST00000650491,;AL031777.2,synonymous_variant,p.Leu24=,ENST00000635200,;H2AC7,synonymous_variant,p.Leu24=,ENST00000341023,NM_021065.3;H3C4,upstream_gene_variant,,ENST00000356476,NM_003530.4,NM_001376937.1;H2BC7,upstream_gene_variant,,ENST00000356530,NM_003522.4;AL031777.2,synonymous_variant,p.Leu24=,ENST00000635641,;,regulatory_region_variant,,ENSR00000194998,;H1-12P,downstream_gene_variant,,ENST00000404269,;AL031777.1,upstream_gene_variant,,ENST00000405418,; C ENSG00000282988 ENST00000635200 Transcript synonymous_variant 122/948 72/510 24/169 L ctC/ctG rs150465023 1 NA -1 AL031777.2 Clone_based_ensembl_gene protein_coding YES ENSP00000489311 A0A0U1RR32.30 UPI0000491EBF 1/2 Gene3D:1.10.20.10,Pfam:PF00125,Prints:PR00620,PROSITE_patterns:PS00046,PANTHER:PTHR23430,PANTHER:PTHR23430:SF225,SMART:SM00414,Superfamily:SSF47113,CDD:cd00074 NA NA NA NA NA NA NA NA 0.0002326 NA NA NA NA LOW 1 SNV 3 NA NA NA . GGA . 6604.6 2.795e-05 NA 2.897e-05 NA NA NA 4.414e-05 0.0001638 NA 26199172 H3C6 0 . GRCh38 chr6 26225292 26225292 + Silent SNP C C T rs1274889625 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.138C>T p.Thr46= p.T46= ENST00000634733 2/2 NA NA NA NA NA NA H3C6,synonymous_variant,p.Thr46=,ENST00000634733,NM_001381999.1;H3C6,synonymous_variant,p.Thr46=,ENST00000614911,NM_003532.3;,regulatory_region_variant,,ENSR00000195002,; T ENSG00000274750 ENST00000634733 Transcript synonymous_variant 498/2679 138/411 46/136 T acC/acT rs1274889625 1 NA 1 H3C6 HGNC HGNC:4769 protein_coding YES CCDS4596.1 ENSP00000489282 P68431.181 UPI00000003C7 NM_001381999.1 2/2 Gene3D:1.10.20.10,PDB-ENSP_mappings:2cv5.A,PDB-ENSP_mappings:2cv5.E,PDB-ENSP_mappings:3afa.A,PDB-ENSP_mappings:3afa.E,PDB-ENSP_mappings:3ayw.A,PDB-ENSP_mappings:3ayw.E,PDB-ENSP_mappings:3aze.A,PDB-ENSP_mappings:3aze.E,PDB-ENSP_mappings:3azf.A,PDB-ENSP_mappings:3azf.E,PDB-ENSP_mappings:3azg.A,PDB-ENSP_mappings:3azg.E,PDB-ENSP_mappings:3azh.A,PDB-ENSP_mappings:3azh.E,PDB-ENSP_mappings:3azi.A,PDB-ENSP_mappings:3azi.E,PDB-ENSP_mappings:3azj.A,PDB-ENSP_mappings:3azj.E,PDB-ENSP_mappings:3azk.A,PDB-ENSP_mappings:3azk.E,PDB-ENSP_mappings:3azl.A,PDB-ENSP_mappings:3azl.E,PDB-ENSP_mappings:3azm.A,PDB-ENSP_mappings:3azm.E,PDB-ENSP_mappings:3azn.A,PDB-ENSP_mappings:3azn.E,PDB-ENSP_mappings:3w96.A,PDB-ENSP_mappings:3w96.E,PDB-ENSP_mappings:3w97.A,PDB-ENSP_mappings:3w97.E,PDB-ENSP_mappings:3w98.A,PDB-ENSP_mappings:3w98.E,PDB-ENSP_mappings:3w99.A,PDB-ENSP_mappings:3w99.E,PDB-ENSP_mappings:3wa9.A,PDB-ENSP_mappings:3wa9.E,PDB-ENSP_mappings:3waa.A,PDB-ENSP_mappings:3waa.E,PDB-ENSP_mappings:3wkj.A,PDB-ENSP_mappings:3wkj.E,PDB-ENSP_mappings:3x1s.A,PDB-ENSP_mappings:3x1s.E,PDB-ENSP_mappings:3x1t.A,PDB-ENSP_mappings:3x1t.E,PDB-ENSP_mappings:3x1u.A,PDB-ENSP_mappings:3x1u.E,PDB-ENSP_mappings:3x1v.A,PDB-ENSP_mappings:3x1v.E,PDB-ENSP_mappings:4ym5.A,PDB-ENSP_mappings:4ym5.E,PDB-ENSP_mappings:4ym6.A,PDB-ENSP_mappings:4ym6.E,PDB-ENSP_mappings:4z2m.G,PDB-ENSP_mappings:4z2m.I,PDB-ENSP_mappings:5av5.A,PDB-ENSP_mappings:5av5.E,PDB-ENSP_mappings:5av6.A,PDB-ENSP_mappings:5av6.E,PDB-ENSP_mappings:5av8.A,PDB-ENSP_mappings:5av8.E,PDB-ENSP_mappings:5av9.A,PDB-ENSP_mappings:5av9.E,PDB-ENSP_mappings:5avb.A,PDB-ENSP_mappings:5avb.E,PDB-ENSP_mappings:5avc.A,PDB-ENSP_mappings:5avc.E,PDB-ENSP_mappings:5b24.A,PDB-ENSP_mappings:5b24.E,PDB-ENSP_mappings:5b2i.A,PDB-ENSP_mappings:5b2i.E,PDB-ENSP_mappings:5b2j.A,PDB-ENSP_mappings:5b2j.E,PDB-ENSP_mappings:5b31.A,PDB-ENSP_mappings:5b31.E,PDB-ENSP_mappings:5c3i.B,PDB-ENSP_mappings:5c3i.F,PDB-ENSP_mappings:5c3i.J,PDB-ENSP_mappings:5c3i.N,PDB-ENSP_mappings:5c3i.R,PDB-ENSP_mappings:5c3i.V,PDB-ENSP_mappings:5cpi.A,PDB-ENSP_mappings:5cpi.E,PDB-ENSP_mappings:5cpj.A,PDB-ENSP_mappings:5cpj.E,PDB-ENSP_mappings:5cpk.A,PDB-ENSP_mappings:5cpk.E,PDB-ENSP_mappings:5gh9.B,PDB-ENSP_mappings:5gse.A,PDB-ENSP_mappings:5gse.E,PDB-ENSP_mappings:5gse.K,PDB-ENSP_mappings:5gse.O,PDB-ENSP_mappings:5gsu.A,PDB-ENSP_mappings:5gsu.E,PDB-ENSP_mappings:5gt0.A,PDB-ENSP_mappings:5gt0.E,PDB-ENSP_mappings:5gt3.A,PDB-ENSP_mappings:5gt3.E,PDB-ENSP_mappings:5gtc.A,PDB-ENSP_mappings:5gtc.E,PDB-ENSP_mappings:5jrg.A,PDB-ENSP_mappings:5jrg.E,PDB-ENSP_mappings:5t1g.B,PDB-ENSP_mappings:5t1i.C,PDB-ENSP_mappings:5vge.C,PDB-ENSP_mappings:5xf3.A,PDB-ENSP_mappings:5xf3.E,PDB-ENSP_mappings:5xf4.A,PDB-ENSP_mappings:5xf4.E,PDB-ENSP_mappings:5xf5.A,PDB-ENSP_mappings:5xf5.E,PDB-ENSP_mappings:5y0c.A,PDB-ENSP_mappings:5y0c.E,PDB-ENSP_mappings:5y0d.A,PDB-ENSP_mappings:5y0d.E,PDB-ENSP_mappings:5z23.A,PDB-ENSP_mappings:5z23.E,PDB-ENSP_mappings:5z30.A,PDB-ENSP_mappings:5z30.E,PDB-ENSP_mappings:5zbx.A,PDB-ENSP_mappings:5zbx.E,PDB-ENSP_mappings:6hkt.A,PDB-ENSP_mappings:6hkt.E,PDB-ENSP_mappings:6hkt.K,PDB-ENSP_mappings:6hkt.O,PDB-ENSP_mappings:6hkt.U,PDB-ENSP_mappings:6hkt.Y,PDB-ENSP_mappings:6hkt.a,PDB-ENSP_mappings:6hkt.e,PDB-ENSP_mappings:6hkt.k,PDB-ENSP_mappings:6hkt.o,PDB-ENSP_mappings:6hkt.u,PDB-ENSP_mappings:6hkt.y,PDB-ENSP_mappings:6hts.I,PDB-ENSP_mappings:6hts.M,PDB-ENSP_mappings:6ipu.A,PDB-ENSP_mappings:6ipu.E,PDB-ENSP_mappings:6iq4.A,PDB-ENSP_mappings:6iq4.E,PDB-ENSP_mappings:6jou.A,PDB-ENSP_mappings:6jou.E,PDB-ENSP_mappings:6jr0.A,PDB-ENSP_mappings:6jr0.E,PDB-ENSP_mappings:6jr1.A,PDB-ENSP_mappings:6jr1.E,PDB-ENSP_mappings:6jxd.A,PDB-ENSP_mappings:6jxd.E,PDB-ENSP_mappings:6k1i.A,PDB-ENSP_mappings:6k1i.E,PDB-ENSP_mappings:6k1j.A,PDB-ENSP_mappings:6k1j.E,PDB-ENSP_mappings:6k1k.A,PDB-ENSP_mappings:6k1k.E,PDB-ENSP_mappings:6ke9.A,PDB-ENSP_mappings:6ke9.E,PDB-ENSP_mappings:6kvd.A,PDB-ENSP_mappings:6kvd.E,PDB-ENSP_mappings:6l49.K,PDB-ENSP_mappings:6l49.O,PDB-ENSP_mappings:6l49.S,PDB-ENSP_mappings:6l49.W,PDB-ENSP_mappings:6l4a.A,PDB-ENSP_mappings:6l4a.E,PDB-ENSP_mappings:6l4a.K,PDB-ENSP_mappings:6l4a.O,PDB-ENSP_mappings:6l4a.S,PDB-ENSP_mappings:6l4a.W,PDB-ENSP_mappings:6l9h.A,PDB-ENSP_mappings:6l9h.E,PDB-ENSP_mappings:6le9.A,PDB-ENSP_mappings:6le9.E,PDB-ENSP_mappings:6r8y.A,PDB-ENSP_mappings:6r8y.E,PDB-ENSP_mappings:6r8z.A,PDB-ENSP_mappings:6r8z.E,PDB-ENSP_mappings:6r90.A,PDB-ENSP_mappings:6r90.E,PDB-ENSP_mappings:6r91.A,PDB-ENSP_mappings:6r91.E,PDB-ENSP_mappings:6r92.A,PDB-ENSP_mappings:6r92.E,PDB-ENSP_mappings:6r93.A,PDB-ENSP_mappings:6r93.E,PDB-ENSP_mappings:6r94.A,PDB-ENSP_mappings:6r94.E,PDB-ENSP_mappings:6t90.A,PDB-ENSP_mappings:6t90.E,PDB-ENSP_mappings:6t93.A,PDB-ENSP_mappings:6t93.E,PDB-ENSP_mappings:6upk.A,PDB-ENSP_mappings:6upk.E,PDB-ENSP_mappings:6upl.A,PDB-ENSP_mappings:6upl.E,PDB-ENSP_mappings:6v92.a,PDB-ENSP_mappings:6v92.e,PDB-ENSP_mappings:6yov.A,PDB-ENSP_mappings:6yov.E,Pfam:PF00125,Prints:PR00622,PANTHER:PTHR11426,PANTHER:PTHR11426:SF224,SMART:SM00428,Superfamily:SSF47113 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . CCG . 5172.6 1.194e-05 NA 5.783e-05 NA NA NA 8.797e-06 NA NA 26225292 H4C8 8370 . GRCh38 chr6 26285255 26285255 + Missense_Mutation SNP A A G novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.245T>C p.Val82Ala p.V82A ENST00000377727 1/1 NA NA NA NA NA NA H4C8,missense_variant,p.Val82Ala,ENST00000377727,NM_003543.4;H4C8,missense_variant,p.Val82Ala,ENST00000634956,;H4C8,missense_variant,p.Val82Ala,ENST00000634560,;,regulatory_region_variant,,ENSR00000195014,;,TF_binding_site_variant,,ENSM00000553274,;,TF_binding_site_variant,,ENSM00208500768,;,TF_binding_site_variant,,ENSM00525027526,; G ENSG00000158406 ENST00000377727 Transcript missense_variant 255/397 245/312 82/103 V/A gTg/gCg 1 NA -1 H4C8 HGNC HGNC:4788 protein_coding YES CCDS4604.1 ENSP00000366956 P62805.199 B2R4R0.120 UPI000000003C NM_003543.4 deleterious(0) probably_damaging(0.97) 1/1 Gene3D:1.10.20.10,PDB-ENSP_mappings:2cv5.B,PDB-ENSP_mappings:2cv5.F,PDB-ENSP_mappings:3a6n.B,PDB-ENSP_mappings:3a6n.F,PDB-ENSP_mappings:3afa.B,PDB-ENSP_mappings:3afa.F,PDB-ENSP_mappings:3an2.B,PDB-ENSP_mappings:3an2.F,PDB-ENSP_mappings:3av1.B,PDB-ENSP_mappings:3av1.F,PDB-ENSP_mappings:3av2.B,PDB-ENSP_mappings:3av2.F,PDB-ENSP_mappings:3ayw.B,PDB-ENSP_mappings:3ayw.F,PDB-ENSP_mappings:3aze.B,PDB-ENSP_mappings:3aze.F,PDB-ENSP_mappings:3azf.B,PDB-ENSP_mappings:3azf.F,PDB-ENSP_mappings:3azg.B,PDB-ENSP_mappings:3azg.F,PDB-ENSP_mappings:3azh.B,PDB-ENSP_mappings:3azh.F,PDB-ENSP_mappings:3azi.B,PDB-ENSP_mappings:3azi.F,PDB-ENSP_mappings:3azj.B,PDB-ENSP_mappings:3azj.F,PDB-ENSP_mappings:3azk.B,PDB-ENSP_mappings:3azk.F,PDB-ENSP_mappings:3azl.B,PDB-ENSP_mappings:3azl.F,PDB-ENSP_mappings:3azm.B,PDB-ENSP_mappings:3azm.F,PDB-ENSP_mappings:3azn.B,PDB-ENSP_mappings:3azn.F,PDB-ENSP_mappings:3nqj.B,PDB-ENSP_mappings:3nqu.B,PDB-ENSP_mappings:3r45.B,PDB-ENSP_mappings:3w96.B,PDB-ENSP_mappings:3w96.F,PDB-ENSP_mappings:3w97.B,PDB-ENSP_mappings:3w97.F,PDB-ENSP_mappings:3w98.B,PDB-ENSP_mappings:3w98.F,PDB-ENSP_mappings:3w99.B,PDB-ENSP_mappings:3w99.F,PDB-ENSP_mappings:3wa9.B,PDB-ENSP_mappings:3wa9.F,PDB-ENSP_mappings:3waa.B,PDB-ENSP_mappings:3waa.F,PDB-ENSP_mappings:3wkj.B,PDB-ENSP_mappings:3wkj.F,PDB-ENSP_mappings:3wtp.B,PDB-ENSP_mappings:3wtp.F,PDB-ENSP_mappings:3x1s.B,PDB-ENSP_mappings:3x1s.F,PDB-ENSP_mappings:3x1t.B,PDB-ENSP_mappings:3x1t.F,PDB-ENSP_mappings:3x1u.B,PDB-ENSP_mappings:3x1u.F,PDB-ENSP_mappings:3x1v.B,PDB-ENSP_mappings:3x1v.F,PDB-ENSP_mappings:4h9n.B,PDB-ENSP_mappings:4h9o.B,PDB-ENSP_mappings:4h9p.B,PDB-ENSP_mappings:4h9q.B,PDB-ENSP_mappings:4h9r.B,PDB-ENSP_mappings:4h9s.C,PDB-ENSP_mappings:4h9s.D,PDB-ENSP_mappings:4hga.C,PDB-ENSP_mappings:4ym5.B,PDB-ENSP_mappings:4ym5.F,PDB-ENSP_mappings:4ym6.B,PDB-ENSP_mappings:4ym6.F,PDB-ENSP_mappings:4z2m.H,PDB-ENSP_mappings:4z2m.J,PDB-ENSP_mappings:4z5t.B,PDB-ENSP_mappings:4z5t.F,PDB-ENSP_mappings:5av5.B,PDB-ENSP_mappings:5av5.F,PDB-ENSP_mappings:5av6.B,PDB-ENSP_mappings:5av6.F,PDB-ENSP_mappings:5av8.B,PDB-ENSP_mappings:5av8.F,PDB-ENSP_mappings:5av9.B,PDB-ENSP_mappings:5av9.F,PDB-ENSP_mappings:5avb.B,PDB-ENSP_mappings:5avb.F,PDB-ENSP_mappings:5avc.B,PDB-ENSP_mappings:5avc.F,PDB-ENSP_mappings:5ay8.B,PDB-ENSP_mappings:5ay8.F,PDB-ENSP_mappings:5b0y.B,PDB-ENSP_mappings:5b0y.F,PDB-ENSP_mappings:5b0z.B,PDB-ENSP_mappings:5b0z.F,PDB-ENSP_mappings:5b24.B,PDB-ENSP_mappings:5b24.F,PDB-ENSP_mappings:5b2i.B,PDB-ENSP_mappings:5b2i.F,PDB-ENSP_mappings:5b2j.B,PDB-ENSP_mappings:5b2j.F,PDB-ENSP_mappings:5b31.B,PDB-ENSP_mappings:5b31.F,PDB-ENSP_mappings:5b32.B,PDB-ENSP_mappings:5b32.F,PDB-ENSP_mappings:5b33.B,PDB-ENSP_mappings:5b33.F,PDB-ENSP_mappings:5b40.B,PDB-ENSP_mappings:5b40.F,PDB-ENSP_mappings:5bnv.B,PDB-ENSP_mappings:5bnv.E,PDB-ENSP_mappings:5bnx.B,PDB-ENSP_mappings:5bo0.B,PDB-ENSP_mappings:5c3i.C,PDB-ENSP_mappings:5c3i.G,PDB-ENSP_mappings:5c3i.K,PDB-ENSP_mappings:5c3i.O,PDB-ENSP_mappings:5c3i.S,PDB-ENSP_mappings:5c3i.W,PDB-ENSP_mappings:5cpi.B,PDB-ENSP_mappings:5cpi.F,PDB-ENSP_mappings:5cpj.B,PDB-ENSP_mappings:5cpj.F,PDB-ENSP_mappings:5cpk.B,PDB-ENSP_mappings:5cpk.F,PDB-ENSP_mappings:5gse.B,PDB-ENSP_mappings:5gse.F,PDB-ENSP_mappings:5gse.L,PDB-ENSP_mappings:5gse.P,PDB-ENSP_mappings:5gsu.B,PDB-ENSP_mappings:5gsu.F,PDB-ENSP_mappings:5gt0.B,PDB-ENSP_mappings:5gt0.F,PDB-ENSP_mappings:5gt3.B,PDB-ENSP_mappings:5gt3.F,PDB-ENSP_mappings:5gtc.B,PDB-ENSP_mappings:5gtc.F,PDB-ENSP_mappings:5gxq.B,PDB-ENSP_mappings:5gxq.F,PDB-ENSP_mappings:5ja4.B,PDB-ENSP_mappings:5jrg.B,PDB-ENSP_mappings:5jrg.F,PDB-ENSP_mappings:5kdm.B,PDB-ENSP_mappings:5x7x.B,PDB-ENSP_mappings:5x7x.F,PDB-ENSP_mappings:5xf3.B,PDB-ENSP_mappings:5xf3.F,PDB-ENSP_mappings:5xf4.B,PDB-ENSP_mappings:5xf4.F,PDB-ENSP_mappings:5xf5.B,PDB-ENSP_mappings:5xf5.F,PDB-ENSP_mappings:5y0c.B,PDB-ENSP_mappings:5y0c.F,PDB-ENSP_mappings:5y0d.B,PDB-ENSP_mappings:5y0d.F,PDB-ENSP_mappings:5z23.B,PDB-ENSP_mappings:5z23.F,PDB-ENSP_mappings:5z30.B,PDB-ENSP_mappings:5z30.F,PDB-ENSP_mappings:5zbx.B,PDB-ENSP_mappings:5zbx.F,PDB-ENSP_mappings:6a5l.b,PDB-ENSP_mappings:6a5l.f,PDB-ENSP_mappings:6a5o.b,PDB-ENSP_mappings:6a5o.f,PDB-ENSP_mappings:6a5p.b,PDB-ENSP_mappings:6a5p.f,PDB-ENSP_mappings:6a5r.b,PDB-ENSP_mappings:6a5r.f,PDB-ENSP_mappings:6a5t.b,PDB-ENSP_mappings:6a5t.f,PDB-ENSP_mappings:6a5u.b,PDB-ENSP_mappings:6a5u.f,PDB-ENSP_mappings:6buz.B,PDB-ENSP_mappings:6buz.F,PDB-ENSP_mappings:6c0w.B,PDB-ENSP_mappings:6c0w.F,PDB-ENSP_mappings:6e0c.B,PDB-ENSP_mappings:6e0c.F,PDB-ENSP_mappings:6e0p.B,PDB-ENSP_mappings:6e0p.F,PDB-ENSP_mappings:6fml.N,PDB-ENSP_mappings:6fml.R,PDB-ENSP_mappings:6hkt.B,PDB-ENSP_mappings:6hkt.F,PDB-ENSP_mappings:6hkt.L,PDB-ENSP_mappings:6hkt.P,PDB-ENSP_mappings:6hkt.V,PDB-ENSP_mappings:6hkt.Z,PDB-ENSP_mappings:6hkt.b,PDB-ENSP_mappings:6hkt.f,PDB-ENSP_mappings:6hkt.l,PDB-ENSP_mappings:6hkt.p,PDB-ENSP_mappings:6hkt.v,PDB-ENSP_mappings:6hkt.z,PDB-ENSP_mappings:6hts.J,PDB-ENSP_mappings:6hts.N,PDB-ENSP_mappings:6inq.b,PDB-ENSP_mappings:6inq.f,PDB-ENSP_mappings:6ipu.B,PDB-ENSP_mappings:6ipu.F,PDB-ENSP_mappings:6iq4.B,PDB-ENSP_mappings:6iq4.F,PDB-ENSP_mappings:6ir9.b,PDB-ENSP_mappings:6ir9.f,PDB-ENSP_mappings:6j4w.b,PDB-ENSP_mappings:6j4w.f,PDB-ENSP_mappings:6j4x.b,PDB-ENSP_mappings:6j4x.f,PDB-ENSP_mappings:6j4y.b,PDB-ENSP_mappings:6j4y.f,PDB-ENSP_mappings:6j4z.b,PDB-ENSP_mappings:6j4z.f,PDB-ENSP_mappings:6j50.b,PDB-ENSP_mappings:6j50.f,PDB-ENSP_mappings:6j51.b,PDB-ENSP_mappings:6j51.f,PDB-ENSP_mappings:6jou.B,PDB-ENSP_mappings:6jou.F,PDB-ENSP_mappings:6jr0.B,PDB-ENSP_mappings:6jr0.F,PDB-ENSP_mappings:6jr1.B,PDB-ENSP_mappings:6jr1.F,PDB-ENSP_mappings:6jxd.B,PDB-ENSP_mappings:6jxd.F,PDB-ENSP_mappings:6k1i.B,PDB-ENSP_mappings:6k1i.F,PDB-ENSP_mappings:6k1j.B,PDB-ENSP_mappings:6k1j.F,PDB-ENSP_mappings:6k1k.B,PDB-ENSP_mappings:6k1k.F,PDB-ENSP_mappings:6ke9.B,PDB-ENSP_mappings:6ke9.F,PDB-ENSP_mappings:6kvd.B,PDB-ENSP_mappings:6kvd.F,PDB-ENSP_mappings:6l49.B,PDB-ENSP_mappings:6l49.F,PDB-ENSP_mappings:6l49.L,PDB-ENSP_mappings:6l49.P,PDB-ENSP_mappings:6l49.T,PDB-ENSP_mappings:6l49.X,PDB-ENSP_mappings:6l4a.B,PDB-ENSP_mappings:6l4a.F,PDB-ENSP_mappings:6l4a.L,PDB-ENSP_mappings:6l4a.P,PDB-ENSP_mappings:6l4a.T,PDB-ENSP_mappings:6l4a.X,PDB-ENSP_mappings:6l9h.B,PDB-ENSP_mappings:6l9h.F,PDB-ENSP_mappings:6le9.B,PDB-ENSP_mappings:6le9.F,PDB-ENSP_mappings:6muo.B,PDB-ENSP_mappings:6muo.F,PDB-ENSP_mappings:6mup.B,PDB-ENSP_mappings:6mup.F,PDB-ENSP_mappings:6o1d.B,PDB-ENSP_mappings:6o1d.F,PDB-ENSP_mappings:6r0c.B,PDB-ENSP_mappings:6r0c.F,PDB-ENSP_mappings:6r8y.B,PDB-ENSP_mappings:6r8y.F,PDB-ENSP_mappings:6r8z.B,PDB-ENSP_mappings:6r8z.F,PDB-ENSP_mappings:6r90.B,PDB-ENSP_mappings:6r90.F,PDB-ENSP_mappings:6r91.B,PDB-ENSP_mappings:6r91.F,PDB-ENSP_mappings:6r92.B,PDB-ENSP_mappings:6r92.F,PDB-ENSP_mappings:6r93.B,PDB-ENSP_mappings:6r93.F,PDB-ENSP_mappings:6r94.B,PDB-ENSP_mappings:6r94.F,PDB-ENSP_mappings:6rny.B,PDB-ENSP_mappings:6rny.F,PDB-ENSP_mappings:6se0.B,PDB-ENSP_mappings:6se0.F,PDB-ENSP_mappings:6se6.B,PDB-ENSP_mappings:6se6.F,PDB-ENSP_mappings:6see.B,PDB-ENSP_mappings:6see.F,PDB-ENSP_mappings:6sef.B,PDB-ENSP_mappings:6sef.F,PDB-ENSP_mappings:6seg.B,PDB-ENSP_mappings:6seg.F,PDB-ENSP_mappings:6t79.B,PDB-ENSP_mappings:6t79.F,PDB-ENSP_mappings:6t7a.B,PDB-ENSP_mappings:6t7a.F,PDB-ENSP_mappings:6t7b.B,PDB-ENSP_mappings:6t7b.F,PDB-ENSP_mappings:6t7c.B,PDB-ENSP_mappings:6t7c.F,PDB-ENSP_mappings:6t7d.B,PDB-ENSP_mappings:6t7d.F,PDB-ENSP_mappings:6t90.B,PDB-ENSP_mappings:6t90.F,PDB-ENSP_mappings:6t93.B,PDB-ENSP_mappings:6t93.F,PDB-ENSP_mappings:6upk.B,PDB-ENSP_mappings:6upk.F,PDB-ENSP_mappings:6upl.B,PDB-ENSP_mappings:6upl.F,PDB-ENSP_mappings:6v92.b,PDB-ENSP_mappings:6v92.f,PDB-ENSP_mappings:6yov.B,PDB-ENSP_mappings:6yov.F,Pfam:PF15511,Prints:PR00623,PANTHER:PTHR10484,PANTHER:PTHR10484:SF171,SMART:SM00417,SMART:SM00803,Superfamily:SSF47113,CDD:cd00076 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV NA NA NA NA . CAC . 6538.6 NA NA NA NA NA NA NA NA NA 26285255 BTN3A1 11119 . GRCh38 chr6 26413423 26413423 + Missense_Mutation SNP A A G rs770281998 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1273A>G p.Thr425Ala p.T425A ENST00000289361 10/10 NA NA NA NA NA NA BTN3A1,missense_variant,p.Thr425Ala,ENST00000289361,NM_007048.6;BTN3A1,missense_variant,p.Thr373Ala,ENST00000414912,NM_001145008.2;BTN3A1,downstream_gene_variant,,ENST00000425234,NM_001145009.2;BTN3A1,downstream_gene_variant,,ENST00000476549,NM_194441.3;BTN3A1,non_coding_transcript_exon_variant,,ENST00000082468,;BTN3A1,downstream_gene_variant,,ENST00000502361,;BTN3A1,downstream_gene_variant,,ENST00000513047,;,regulatory_region_variant,,ENSR00000786538,; G ENSG00000026950 ENST00000289361 Transcript missense_variant 1603/3388 1273/1542 425/513 T/A Aca/Gca rs770281998 1 NA 1 BTN3A1 HGNC HGNC:1138 protein_coding YES CCDS4608.1 ENSP00000289361 O00481.174 UPI000013C904 NM_007048.6 tolerated(0.22) benign(0.007) 10/10 Gene3D:2.60.120.920,PDB-ENSP_mappings:4n7i.A,PDB-ENSP_mappings:4n7u.A,PDB-ENSP_mappings:4v1p.A,PDB-ENSP_mappings:5hm7.A,PDB-ENSP_mappings:5hm7.B,PDB-ENSP_mappings:5lyg.A,PDB-ENSP_mappings:5lyk.A,PDB-ENSP_mappings:5zxk.A,PDB-ENSP_mappings:6ism.A,PDB-ENSP_mappings:6ita.A,PDB-ENSP_mappings:6j06.A,PDB-ENSP_mappings:6j06.B,PDB-ENSP_mappings:6j06.C,Pfam:PF00622,PROSITE_profiles:PS50188,PANTHER:PTHR24100,PANTHER:PTHR24100:SF70,SMART:SM00449,Superfamily:SSF49899,CDD:cd15820 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . GAC . 2604.6 1.988e-05 NA NA NA NA NA 4.395e-05 NA NA 26413423 H2AC14 0 . GRCh38 chr6 27814728 27814728 + Missense_Mutation SNP C C A novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.13G>T p.Gly5Cys p.G5C ENST00000333151 1/1 NA NA NA NA NA NA H2AC14,missense_variant,p.Gly5Cys,ENST00000333151,NM_021066.3;H3C10,downstream_gene_variant,,ENST00000369163,NM_003536.3;H2BC14,upstream_gene_variant,,ENST00000621112,NM_003521.3;,regulatory_region_variant,,ENSR00000195173,; A ENSG00000276368 ENST00000333151 Transcript missense_variant 50/476 13/387 5/128 G/C Ggt/Tgt 1 NA -1 H2AC14 HGNC HGNC:4727 protein_coding YES CCDS4628.1 ENSP00000328484 Q99878.191 UPI0000000E16 NM_021066.3 deleterious_low_confidence(0) benign(0.089) 1/1 Gene3D:1.10.20.10,Pfam:PF00125,PANTHER:PTHR23430,PANTHER:PTHR23430:SF225,SMART:SM00414,Superfamily:SSF47113,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV NA NA NA NA . CCA . 8396.6 NA NA NA NA NA NA NA NA NA 27814728 H2BC15 8341 . GRCh38 chr6 27838934 27838934 + Silent SNP C C G novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.273C>G p.Thr91= p.T91= ENST00000606613 1/3 NA NA NA NA NA NA H2BC15,synonymous_variant,p.Thr91=,ENST00000606613,;H2BC15,synonymous_variant,p.Thr91=,ENST00000612898,NM_003520.4;H2BC15,synonymous_variant,p.Thr91=,ENST00000396980,;H2AC15,upstream_gene_variant,,ENST00000618958,NM_003510.3;H2BC15,synonymous_variant,p.Thr91=,ENST00000449538,;,regulatory_region_variant,,ENSR00000195181,; G ENSG00000233822 ENST00000606613 Transcript synonymous_variant 334/4137 273/501 91/166 T acC/acG 1 NA 1 H2BC15 HGNC HGNC:4749 protein_coding YES ENSP00000475942 U3KQK0.68 UPI00000706E6 1/3 Gene3D:1.10.20.10,Pfam:PF00125,Prints:PR00621,PANTHER:PTHR23428,PANTHER:PTHR23428:SF196,SMART:SM00427,Superfamily:SSF47113 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . CCT . 459.6 NA NA NA NA NA NA NA NA NA 27838934 H2BC15 8341 . GRCh38 chr6 27838938 27838938 + Silent SNP A A C novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.277A>C p.Arg93= p.R93= ENST00000606613 1/3 NA NA NA NA NA NA H2BC15,synonymous_variant,p.Arg93=,ENST00000606613,;H2BC15,synonymous_variant,p.Arg93=,ENST00000612898,NM_003520.4;H2BC15,synonymous_variant,p.Arg93=,ENST00000396980,;H2AC15,upstream_gene_variant,,ENST00000618958,NM_003510.3;H2BC15,synonymous_variant,p.Arg93=,ENST00000449538,;,regulatory_region_variant,,ENSR00000195181,; C ENSG00000233822 ENST00000606613 Transcript synonymous_variant 338/4137 277/501 93/166 R Agg/Cgg 1 NA 1 H2BC15 HGNC HGNC:4749 protein_coding YES ENSP00000475942 U3KQK0.68 UPI00000706E6 1/3 Gene3D:1.10.20.10,Pfam:PF00125,Prints:PR00621,PROSITE_patterns:PS00357,PANTHER:PTHR23428,PANTHER:PTHR23428:SF196,SMART:SM00427,Superfamily:SSF47113 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . CAG . 559.6 NA NA NA NA NA NA NA NA NA 27838938 ZKSCAN3 80317 . GRCh38 chr6 28365879 28365879 + Missense_Mutation SNP G G T novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1211G>T p.Gly404Val p.G404V ENST00000377255 7/7 NA NA NA NA NA NA ZKSCAN3,missense_variant,p.Gly404Val,ENST00000377255,NM_001242894.2;ZKSCAN3,missense_variant,p.Gly404Val,ENST00000252211,NM_024493.4;ZKSCAN3,missense_variant,p.Gly256Val,ENST00000341464,NM_001242895.2; T ENSG00000189298 ENST00000377255 Transcript missense_variant 1508/4799 1211/1617 404/538 G/V gGg/gTg 1 NA 1 ZKSCAN3 HGNC HGNC:13853 protein_coding YES CCDS4650.1 ENSP00000366465 Q9BRR0.174 UPI000013CD4A NM_001242894.2 deleterious(0) probably_damaging(1) 7/7 Gene3D:3.30.160.60,Pfam:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,PANTHER:PTHR23226,PANTHER:PTHR23226:SF130,SMART:SM00355,Superfamily:SSF57667,Superfamily:SSF57667 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . GGG . 2199.6 NA NA NA NA NA NA NA NA NA 28365879 ATAT1 79969 . GRCh38 chr6 30642953 30642953 + Missense_Mutation SNP G G A rs760636161 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.910G>A p.Ala304Thr p.A304T ENST00000376485 10/13 NA NA NA NA NA NA ATAT1,missense_variant,p.Ala304Thr,ENST00000376483,NM_001318763.2;ATAT1,missense_variant,p.Ala281Thr,ENST00000318999,NM_001190724.3,NM_001318762.2;ATAT1,missense_variant,p.Ala304Thr,ENST00000329992,NM_024909.4;ATAT1,missense_variant,p.Ala281Thr,ENST00000319027,NM_001254952.3;ATAT1,missense_variant,p.Ala292Thr,ENST00000330083,NM_001031722.4;ATAT1,missense_variant,p.Ala304Thr,ENST00000376485,;C6orf136,upstream_gene_variant,,ENST00000293604,;C6orf136,upstream_gene_variant,,ENST00000376471,NM_145029.4;C6orf136,upstream_gene_variant,,ENST00000376473,NM_001109938.3;C6orf136,upstream_gene_variant,,ENST00000446773,;C6orf136,upstream_gene_variant,,ENST00000651131,NM_001161376.2;ATAT1,intron_variant,,ENST00000462304,;ATAT1,intron_variant,,ENST00000468713,;C6orf136,upstream_gene_variant,,ENST00000493705,;ATAT1,intron_variant,,ENST00000471782,;ATAT1,intron_variant,,ENST00000479562,;C6orf136,upstream_gene_variant,,ENST00000463794,;C6orf136,upstream_gene_variant,,ENST00000484551,;C6orf136,upstream_gene_variant,,ENST00000488383,;ATAT1,downstream_gene_variant,,ENST00000493388,; A ENSG00000137343 ENST00000376485 Transcript missense_variant 940/1476 910/1266 304/421 A/T Gcc/Acc rs760636161,COSV53315730 1 NA 1 ATAT1 HGNC HGNC:21186 protein_coding YES ENSP00000365668 Q5SQI0.130 UPI000014137B deleterious(0.04) benign(0.336) 10/13 PANTHER:PTHR12327 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE NA SNV 5 NA 0,1 NA NA . CGC . 1156.6 1.206e-05 NA NA NA NA NA 1.796e-05 NA 3.268e-05 30642953 PPP1R18 170954 . GRCh38 chr6 30684842 30684842 + Missense_Mutation SNP G G T novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1177C>A p.Leu393Met p.L393M ENST00000615527 1/3 NA NA NA NA NA NA PPP1R18,missense_variant,p.Leu393Met,ENST00000615527,;PPP1R18,missense_variant,p.Leu393Met,ENST00000274853,NM_133471.4;PPP1R18,missense_variant,p.Leu393Met,ENST00000399199,NM_001134870.2;NRM,downstream_gene_variant,,ENST00000259953,NM_007243.2;NRM,downstream_gene_variant,,ENST00000376420,NM_001270710.2,NM_001270709.2,NM_001270708.2;NRM,downstream_gene_variant,,ENST00000376421,NM_001270707.2;NRM,downstream_gene_variant,,ENST00000444096,;PPP1R18,upstream_gene_variant,,ENST00000615892,;PPP1R18,intron_variant,,ENST00000467662,;PPP1R18,intron_variant,,ENST00000488324,;NRM,downstream_gene_variant,,ENST00000462857,;NRM,downstream_gene_variant,,ENST00000470733,;NRM,downstream_gene_variant,,ENST00000474864,;NRM,downstream_gene_variant,,ENST00000482141,;NRM,downstream_gene_variant,,ENST00000495946,;,regulatory_region_variant,,ENSR00000195425,; T ENSG00000146112 ENST00000615527 Transcript missense_variant 3054/4597 1177/1842 393/613 L/M Ctg/Atg 1 NA -1 PPP1R18 HGNC HGNC:29413 protein_coding YES CCDS43444.1 ENSP00000480270 Q6NYC8.142 A0A024RCJ8.34 UPI00001C1E5E tolerated_low_confidence(0.06) possibly_damaging(0.548) 1/3 PANTHER:PTHR21685,PANTHER:PTHR21685:SF0,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . AGG . 2461.6 NA NA NA NA NA NA NA NA NA 30684842 MUC21 394263 . GRCh38 chr6 30986468 30986468 + Missense_Mutation SNP T T C rs1634730 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.293T>C p.Val98Ala p.V98A ENST00000376296 2/3 NA NA NA NA NA NA MUC21,missense_variant,p.Val98Ala,ENST00000376296,NM_001010909.5;MUC21,5_prime_UTR_variant,,ENST00000486149,; C ENSG00000204544 ENST00000376296 Transcript missense_variant 534/3651 293/1701 98/566 V/A gTg/gCg rs1634730,COSV66220090 1 NA 1 MUC21 HGNC HGNC:21661 protein_coding YES CCDS34388.1 ENSP00000365473 Q5SSG8.130 UPI000047030C NM_001010909.5 tolerated_low_confidence(0.64) benign(0) 2/3 PANTHER:PTHR39408,PANTHER:PTHR39408:SF1,Pfam:PF05647 0.7107 0.8585 0.7363 NA 0.5933 0.7247 0.5992 0.8173 0.7193 0,1 21819567 NA NA NA NA MODERATE 1 SNV 1 NA 0,1 NA NA . GTG . 28835.03 NA NA NA NA NA NA NA NA NA 30986468 MUC22 100507679 . GRCh38 chr6 31028873 31028874 + In_Frame_Ins INS - - CCTCTACTGAAGGCTCTGAGACCACCACAG rs774753714 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3464_3493dup p.Thr1155_Glu1164dup p.T1155_E1164dup ENST00000561890 2/4 NA NA NA NA NA NA MUC22,inframe_insertion,p.Thr1155_Glu1164dup,ENST00000561890,NM_001198815.1,NM_001318484.1; CCTCTACTGAAGGCTCTGAGACCACCACAG ENSG00000261272 ENST00000561890 Transcript inframe_insertion 3675-3676/6019 3442-3443/5322 1148/1773 T/TSTEGSETTTA acc/aCCTCTACTGAAGGCTCTGAGACCACCACAGcc rs774753714 1 NA 1 MUC22 HGNC HGNC:39755 protein_coding YES CCDS59003.1 ENSP00000455906 E2RYF6.59 UPI0001E92A31 NM_001198815.1,NM_001318484.1 2/4 PANTHER:PTHR37000,PANTHER:PTHR37000:SF4,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 insertion 2 51 NA NA . CAC . 13831.64 NA NA NA NA NA NA NA NA NA 31028873 MUC22 100507679 . GRCh38 chr6 31028943 31028944 + In_Frame_Ins INS - - AGGCTCTGAGACCACCACAGCCTCTACTGA rs765987426 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3553_3582dup p.Thr1185_Glu1194dup p.T1185_E1194dup ENST00000561890 2/4 NA NA NA NA NA NA MUC22,inframe_insertion,p.Thr1185_Glu1194dup,ENST00000561890,NM_001198815.1,NM_001318484.1; AGGCTCTGAGACCACCACAGCCTCTACTGA ENSG00000261272 ENST00000561890 Transcript inframe_insertion 3745-3746/6019 3512-3513/5322 1171/1773 T/TGSETTTASTE aca/acAGGCTCTGAGACCACCACAGCCTCTACTGAa rs765987426 1 NA 1 MUC22 HGNC HGNC:39755 protein_coding YES CCDS59003.1 ENSP00000455906 E2RYF6.59 UPI0001E92A31 NM_001198815.1,NM_001318484.1 2/4 PANTHER:PTHR37000,PANTHER:PTHR37000:SF4,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 insertion 2 70 NA NA . ACA . 5230.07 NA NA NA NA NA NA NA NA NA 31028943 MUC22 100507679 . GRCh38 chr6 31029951 31029951 + Missense_Mutation SNP C C A novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4520C>A p.Ala1507Glu p.A1507E ENST00000561890 2/4 NA NA NA NA NA NA MUC22,missense_variant,p.Ala1507Glu,ENST00000561890,NM_001198815.1,NM_001318484.1; A ENSG00000261272 ENST00000561890 Transcript missense_variant 4753/6019 4520/5322 1507/1773 A/E gCa/gAa 1 NA 1 MUC22 HGNC HGNC:39755 protein_coding YES CCDS59003.1 ENSP00000455906 E2RYF6.59 UPI0001E92A31 NM_001198815.1,NM_001318484.1 tolerated(0.53) probably_damaging(0.933) 2/4 PANTHER:PTHR37000,PANTHER:PTHR37000:SF4,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 2 NA NA NA . GCA . 11779.6 NA NA NA NA NA NA NA NA NA 31029951 CCHCR1 54535 . GRCh38 chr6 31154575 31154575 + Missense_Mutation SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.722G>A p.Gly241Glu p.G241E ENST00000396268 4/18 NA NA NA NA NA NA CCHCR1,missense_variant,p.Gly241Glu,ENST00000396268,NM_001105564.1;CCHCR1,missense_variant,p.Gly152Glu,ENST00000376266,NM_019052.4;CCHCR1,missense_variant,p.Gly205Glu,ENST00000451521,NM_001105563.1;CCHCR1,missense_variant,p.Gly152Glu,ENST00000396263,;CCHCR1,missense_variant,p.Gly152Glu,ENST00000448162,;CCHCR1,missense_variant,p.Gly152Glu,ENST00000455279,;CCHCR1,missense_variant,p.Gly116Glu,ENST00000448141,;CCHCR1,missense_variant,p.Gly152Glu,ENST00000507751,;CCHCR1,missense_variant,p.Gly116Glu,ENST00000503420,;CCHCR1,missense_variant,p.Gly116Glu,ENST00000508683,;CCHCR1,missense_variant,p.Gly126Glu,ENST00000513222,;TCF19,upstream_gene_variant,,ENST00000376255,NM_001077511.2;TCF19,upstream_gene_variant,,ENST00000376257,NM_007109.3,NM_001318908.2;CCHCR1,downstream_gene_variant,,ENST00000426967,;CCHCR1,downstream_gene_variant,,ENST00000428174,;CCHCR1,downstream_gene_variant,,ENST00000502557,;CCHCR1,downstream_gene_variant,,ENST00000503934,;CCHCR1,downstream_gene_variant,,ENST00000506831,;CCHCR1,downstream_gene_variant,,ENST00000507226,;CCHCR1,downstream_gene_variant,,ENST00000507829,;CCHCR1,downstream_gene_variant,,ENST00000507892,;CCHCR1,intron_variant,,ENST00000480060,;CCHCR1,missense_variant,p.Gly152Glu,ENST00000652535,;CCHCR1,missense_variant,p.Gly152Glu,ENST00000652427,;CCHCR1,non_coding_transcript_exon_variant,,ENST00000509552,;CCHCR1,non_coding_transcript_exon_variant,,ENST00000464012,;CCHCR1,intron_variant,,ENST00000505392,;CCHCR1,intron_variant,,ENST00000507459,;CCHCR1,intron_variant,,ENST00000508852,;CCHCR1,intron_variant,,ENST00000512418,;CCHCR1,downstream_gene_variant,,ENST00000475684,;CCHCR1,downstream_gene_variant,,ENST00000488920,; T ENSG00000204536 ENST00000396268 Transcript missense_variant 911/2958 722/2616 241/871 G/E gGg/gAg 1 NA -1 CCHCR1 HGNC HGNC:13930 protein_coding YES CCDS43445.1 ENSP00000379566 Q8TD31.157 UPI0000E5ACDF NM_001105564.1 tolerated(0.09) probably_damaging(1) 4/18 Pfam:PF07111,PANTHER:PTHR46822,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CCC . 2489.6 NA NA NA NA NA NA NA NA NA 31154575 MICA 100507436 . GRCh38 chr6 31412373 31412373 + Missense_Mutation SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.941C>T p.Ala314Val p.A314V ENST00000449934 5/6 NA NA NA NA NA NA MICA,missense_variant,p.Ala217Val,ENST00000616296,NM_001289152.2,NM_001289153.2;MICA,missense_variant,p.Ala176Val,ENST00000674069,NM_001289154.2;MICA,missense_variant,p.Ala314Val,ENST00000449934,NM_001177519.3;MICA,missense_variant,p.Ala205Val,ENST00000421350,;MICA,downstream_gene_variant,,ENST00000673647,;AL645933.3,intron_variant,,ENST00000673857,;MICA,downstream_gene_variant,,ENST00000673996,; T ENSG00000204520 ENST00000449934 Transcript missense_variant 979/1370 941/999 314/332 A/V gCt/gTt 1 NA 1 MICA HGNC HGNC:7090 protein_coding YES CCDS56412.1 ENSP00000413079 Q96QC4.172 UPI000006F0B0 NM_001177519.3 tolerated(0.41) benign(0.011) 5/6 PANTHER:PTHR16675,PANTHER:PTHR16675:SF154,Transmembrane_helices:TMhelix NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . GCT . 1984.6 NA NA NA NA NA NA NA NA NA 31412373 MICA 100507436 . GRCh38 chr6 31412384 31412385 + Frame_Shift_Ins INS - - CTGCTGCTGCT rs41293539 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.952_953insCTGCTGCTGCT p.Gly318AlafsTer72 p.G318Afs*72 ENST00000449934 5/6 NA NA NA NA NA NA MICA,frameshift_variant,p.Gly221AlafsTer72,ENST00000616296,NM_001289152.2,NM_001289153.2;MICA,frameshift_variant,p.Gly180AlafsTer72,ENST00000674069,NM_001289154.2;MICA,frameshift_variant,p.Gly318AlafsTer72,ENST00000449934,NM_001177519.3;MICA,frameshift_variant,p.Gly209AlafsTer72,ENST00000421350,;MICA,downstream_gene_variant,,ENST00000673647,;AL645933.3,intron_variant,,ENST00000673857,;MICA,downstream_gene_variant,,ENST00000673996,; CTGCTGCTGCT ENSG00000204520 ENST00000449934 Transcript frameshift_variant 990-991/1370 952-953/999 318/332 G/AAAAX ggc/gCTGCTGCTGCTgc rs41293539,COSV69826307,COSV69826359 1 NA 1 MICA HGNC HGNC:7090 protein_coding YES CCDS56412.1 ENSP00000413079 Q96QC4.172 UPI000006F0B0 NM_001177519.3 5/6 PANTHER:PTHR16675,PANTHER:PTHR16675:SF154,Transmembrane_helices:TMhelix NA 0.3079 0.2161 NA 0.1448 0.1431 0.2178 NA NA benign 0,1,1 24033266,30794652 NA NA NA NA HIGH 1 insertion 1 NA 1,1,1 NA NA . TGG . 2180.64 NA NA NA NA NA NA NA NA NA 31412384 BAG6 7917 . GRCh38 chr6 31644610 31644610 + Splice_Region SNP G G T novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1370-8C>A ENST00000676571 NA NA NA NA NA NA BAG6,splice_region_variant,,ENST00000211379,NM_080702.3,NM_080703.3;BAG6,splice_region_variant,,ENST00000362049,NM_001199698.1;BAG6,splice_region_variant,,ENST00000375976,NM_001098534.2;BAG6,splice_region_variant,,ENST00000435080,;BAG6,splice_region_variant,,ENST00000437771,;BAG6,splice_region_variant,,ENST00000439687,NM_001199697.1;BAG6,splice_region_variant,,ENST00000676571,;BAG6,splice_region_variant,,ENST00000676615,;BAG6,synonymous_variant,p.Pro48=,ENST00000438149,;BAG6,intron_variant,,ENST00000375964,;BAG6,intron_variant,,ENST00000453833,;BAG6,upstream_gene_variant,,ENST00000422948,;BAG6,downstream_gene_variant,,ENST00000424176,;BAG6,downstream_gene_variant,,ENST00000424480,;BAG6,downstream_gene_variant,,ENST00000428326,;BAG6,downstream_gene_variant,,ENST00000433828,;BAG6,downstream_gene_variant,,ENST00000434444,;BAG6,downstream_gene_variant,,ENST00000441054,;BAG6,downstream_gene_variant,,ENST00000451898,;BAG6,downstream_gene_variant,,ENST00000452994,;BAG6,downstream_gene_variant,,ENST00000454165,;BAG6,downstream_gene_variant,,ENST00000456286,;BAG6,downstream_gene_variant,,ENST00000456622,;BAG6,splice_region_variant,,ENST00000462682,;BAG6,intron_variant,,ENST00000469182,;BAG6,upstream_gene_variant,,ENST00000464126,;BAG6,upstream_gene_variant,,ENST00000464869,;BAG6,upstream_gene_variant,,ENST00000465348,;BAG6,upstream_gene_variant,,ENST00000470875,;BAG6,splice_region_variant,,ENST00000679119,;BAG6,upstream_gene_variant,,ENST00000441793,;BAG6,upstream_gene_variant,,ENST00000462875,;BAG6,upstream_gene_variant,,ENST00000678272,; T ENSG00000204463 ENST00000676571 Transcript splice_region_variant,intron_variant 1 NA -1 BAG6 HGNC HGNC:13919 protein_coding YES ENSP00000504005 UPI0005CFFBE2 10/25 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV NA NA NA NA . AGG . 2044.6 NA NA NA NA NA NA NA NA NA 31644610 HSPA1L 3305 . GRCh38 chr6 31811578 31811578 + Missense_Mutation SNP G G T novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.395C>A p.Thr132Asn p.T132N ENST00000375654 2/2 NA NA NA NA NA NA HSPA1L,missense_variant,p.Thr132Asn,ENST00000375654,NM_005527.4;HSPA1A,upstream_gene_variant,,ENST00000375651,NM_005345.6;LSM2,upstream_gene_variant,,ENST00000375661,NM_021177.5;HSPA1A,upstream_gene_variant,,ENST00000608703,;LSM2,upstream_gene_variant,,ENST00000470083,;LSM2,upstream_gene_variant,,ENST00000470086,;LSM2,upstream_gene_variant,,ENST00000475835,;LSM2,upstream_gene_variant,,ENST00000477182,;LSM2,upstream_gene_variant,,ENST00000491421,;LSM2,upstream_gene_variant,,ENST00000493387,;,regulatory_region_variant,,ENSR00000320258,; T ENSG00000204390 ENST00000375654 Transcript missense_variant 803/2762 395/1926 132/641 T/N aCt/aAt 1 NA -1 HSPA1L HGNC HGNC:5234 protein_coding YES CCDS34413.1 ENSP00000364805 P34931.191 A0A1U9X7W7.20 UPI000012CC97 NM_005527.4 deleterious_low_confidence(0) possibly_damaging(0.515) 2/2 PDB-ENSP_mappings:3gdq.A,CDD:cd10233,PANTHER:PTHR19375:SF210,PANTHER:PTHR19375,Pfam:PF00012,Gene3D:3.30.420.40,Superfamily:SSF53067 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . AGT . 3939.6 NA NA NA NA NA NA NA NA NA 31811578 NEU1 4758 . GRCh38 chr6 31862012 31862012 + Missense_Mutation SNP C C G novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.339G>C p.Arg113Ser p.R113S ENST00000375631 2/6 NA NA NA NA NA NA NEU1,missense_variant,p.Arg113Ser,ENST00000375631,NM_000434.4;SLC44A4,downstream_gene_variant,,ENST00000229729,NM_025257.3;SLC44A4,downstream_gene_variant,,ENST00000375562,NM_001178044.1;SLC44A4,downstream_gene_variant,,ENST00000414427,;SLC44A4,downstream_gene_variant,,ENST00000544672,NM_001178045.1;SLC44A4,downstream_gene_variant,,ENST00000487680,;NEU1,missense_variant,p.Arg113Ser,ENST00000491768,;NEU1,non_coding_transcript_exon_variant,,ENST00000495807,;NEU1,non_coding_transcript_exon_variant,,ENST00000677054,;NEU1,non_coding_transcript_exon_variant,,ENST00000678869,;NEU1,non_coding_transcript_exon_variant,,ENST00000480384,;NEU1,non_coding_transcript_exon_variant,,ENST00000677512,;SLC44A4,downstream_gene_variant,,ENST00000479777,;,regulatory_region_variant,,ENSR00000195609,; G ENSG00000204386 ENST00000375631 Transcript missense_variant 384/3353 339/1248 113/415 R/S agG/agC 1 NA -1 NEU1 HGNC HGNC:7758 protein_coding YES CCDS4723.1 ENSP00000364782 Q99519.204 Q5JQI0.129 UPI000012FF46 NM_000434.4 deleterious(0) probably_damaging(0.997) 2/6 Gene3D:2.120.10.10,Pfam:PF13088,PANTHER:PTHR10628,PANTHER:PTHR10628:SF21,Superfamily:SSF50939,CDD:cd15482 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . ACC . 4516.6 NA NA NA NA NA NA NA NA NA 31862012 EHMT2 10919 . GRCh38 chr6 31892885 31892885 + Frame_Shift_Del DEL G G - novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.779del p.Pro260LeufsTer8 p.P260Lfs*8 ENST00000395728 4/27 NA NA NA NA NA NA EHMT2,frameshift_variant,p.Pro260LeufsTer8,ENST00000395728,NM_001363689.1,NM_001318833.1;EHMT2,frameshift_variant,p.Pro260LeufsTer8,ENST00000375528,NM_001289413.1;EHMT2,frameshift_variant,p.Pro203LeufsTer8,ENST00000375537,NM_006709.5;EHMT2,frameshift_variant,p.Pro203LeufsTer8,ENST00000375530,NM_025256.7;C2,upstream_gene_variant,,ENST00000469372,NM_001282457.2;C2,upstream_gene_variant,,ENST00000497706,;EHMT2,non_coding_transcript_exon_variant,,ENST00000480912,;EHMT2,non_coding_transcript_exon_variant,,ENST00000463484,;EHMT2,downstream_gene_variant,,ENST00000465429,; - ENSG00000204371 ENST00000395728 Transcript frameshift_variant 779/4129 779/3804 260/1267 P/X cCt/ct 1 NA -1 EHMT2 HGNC HGNC:14129 protein_coding YES CCDS87384.1 ENSP00000379078 A2ABF9.126 UPI0000E5AD1E NM_001363689.1,NM_001318833.1 4/27 PANTHER:PTHR46307,PANTHER:PTHR46307:SF1,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 NA NA NA . CAGG . 2863.6 NA NA NA NA NA NA NA NA NA 31892884 DXO 1797 . GRCh38 chr6 31970115 31970115 + Missense_Mutation SNP T T C novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1037A>G p.Asp346Gly p.D346G ENST00000375349 6/7 NA NA NA NA NA NA DXO,missense_variant,p.Asp346Gly,ENST00000375349,;DXO,missense_variant,p.Asp346Gly,ENST00000375356,;DXO,missense_variant,p.Asp346Gly,ENST00000337523,NM_005510.4;DXO,missense_variant,p.Asp124Gly,ENST00000495340,NM_001371206.1,NM_001371205.1;STK19,upstream_gene_variant,,ENST00000375331,NM_004197.1;STK19,upstream_gene_variant,,ENST00000375333,NM_032454.1;SKIV2L,downstream_gene_variant,,ENST00000375394,NM_006929.5;STK19,upstream_gene_variant,,ENST00000460018,;SKIV2L,downstream_gene_variant,,ENST00000491994,;DXO,non_coding_transcript_exon_variant,,ENST00000478221,;DXO,non_coding_transcript_exon_variant,,ENST00000474587,;SKIV2L,downstream_gene_variant,,ENST00000461915,;STK19,upstream_gene_variant,,ENST00000463823,;STK19,upstream_gene_variant,,ENST00000466336,;SKIV2L,downstream_gene_variant,,ENST00000470453,;SKIV2L,downstream_gene_variant,,ENST00000471818,;DXO,downstream_gene_variant,,ENST00000487914,;DXO,3_prime_UTR_variant,,ENST00000480240,;DXO,non_coding_transcript_exon_variant,,ENST00000477826,;DXO,non_coding_transcript_exon_variant,,ENST00000473976,;DXO,non_coding_transcript_exon_variant,,ENST00000485557,;DXO,non_coding_transcript_exon_variant,,ENST00000498357,;DXO,non_coding_transcript_exon_variant,,ENST00000491327,;DXO,downstream_gene_variant,,ENST00000460058,;SKIV2L,downstream_gene_variant,,ENST00000465703,;STK19,upstream_gene_variant,,ENST00000466132,;STK19,upstream_gene_variant,,ENST00000469907,;STK19,upstream_gene_variant,,ENST00000471028,;STK19,upstream_gene_variant,,ENST00000473983,;SKIV2L,downstream_gene_variant,,ENST00000474839,;STK19,upstream_gene_variant,,ENST00000478486,;STK19,upstream_gene_variant,,ENST00000479644,;SKIV2L,downstream_gene_variant,,ENST00000483553,;STK19,upstream_gene_variant,,ENST00000483801,;STK19,upstream_gene_variant,,ENST00000484540,;SKIV2L,downstream_gene_variant,,ENST00000484835,;SKIV2L,downstream_gene_variant,,ENST00000485349,;STK19,upstream_gene_variant,,ENST00000491861,;STK19,upstream_gene_variant,,ENST00000492583,;DXO,downstream_gene_variant,,ENST00000492946,;SKIV2L,downstream_gene_variant,,ENST00000494058,;STK19,upstream_gene_variant,,ENST00000519179,; C ENSG00000204348 ENST00000375349 Transcript missense_variant 1449/1667 1037/1191 346/396 D/G gAc/gGc 1 NA -1 DXO HGNC HGNC:2992 protein_coding YES CCDS4732.1 ENSP00000364498 O77932.139 A0A024RCW8.45 UPI00000710F6 deleterious(0.02) possibly_damaging(0.644) 6/7 PANTHER:PTHR12395,PANTHER:PTHR12395:SF9 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE NA SNV 5 NA NA NA . GTC . 7309.6 NA NA NA NA NA NA NA NA NA 31970115 CYP21A2 1589 . GRCh38 chr6 32040421 32040421 + Nonsense_Mutation SNP C C T rs7755898 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.955C>T p.Gln319Ter p.Q319* ENST00000644719 8/10 NA NA NA NA NA NA CYP21A2,stop_gained,p.Gln319Ter,ENST00000644719,NM_000500.9;CYP21A2,stop_gained,p.Gln289Ter,ENST00000435122,NM_001368143.2,NM_001368144.2,NM_001128590.4;TNXB,downstream_gene_variant,,ENST00000375244,;TNXB,downstream_gene_variant,,ENST00000451343,NM_032470.3;CYP21A2,downstream_gene_variant,,ENST00000471671,;CYP21A2,downstream_gene_variant,,ENST00000478281,;TNXB,downstream_gene_variant,,ENST00000611016,;TNXB,downstream_gene_variant,,ENST00000644971,NM_019105.8,NM_001365276.2;TNXB,downstream_gene_variant,,ENST00000647633,;C4B-AS1,upstream_gene_variant,,ENST00000415626,;CYP21A2,non_coding_transcript_exon_variant,,ENST00000479074,;CYP21A2,non_coding_transcript_exon_variant,,ENST00000479730,;CYP21A2,non_coding_transcript_exon_variant,,ENST00000486063,;CYP21A2,non_coding_transcript_exon_variant,,ENST00000483041,;CYP21A2,downstream_gene_variant,,ENST00000462278,;CYP21A2,downstream_gene_variant,,ENST00000464325,;CYP21A2,downstream_gene_variant,,ENST00000466779,;CYP21A2,downstream_gene_variant,,ENST00000466879,;CYP21A2,downstream_gene_variant,,ENST00000469053,;CYP21A2,downstream_gene_variant,,ENST00000480027,;CYP21A2,downstream_gene_variant,,ENST00000488465,;TNXB,downstream_gene_variant,,ENST00000490077,;TNXB,downstream_gene_variant,,ENST00000498094,;,regulatory_region_variant,,ENSR00000787785,; T ENSG00000231852 ENST00000644719 Transcript stop_gained 963/2006 955/1488 319/495 Q/* Cag/Tag rs7755898,CM880023,COSV64480175 1 NA 1 CYP21A2 HGNC HGNC:2600 protein_coding YES CCDS4735.1 ENSP00000496625 Q16874.180 UPI0000073F52 NM_000500.9 8/10 Gene3D:1.10.630.10,PDB-ENSP_mappings:5vbu.A,PDB-ENSP_mappings:5vbu.B,PDB-ENSP_mappings:5vbu.C,Pfam:PF00067,Prints:PR00463,PANTHER:PTHR24281,PANTHER:PTHR24281:SF2,Superfamily:SSF48264 NA NA NA NA NA NA NA NA NA pathogenic 0,0,1 20301350,20587039,12915679,7629224,11093272,3267225,12220458,28401898 NA NA NA NA HIGH NA SNV NA NA 1,1,1 NA 1 . GCA . 237.6 0.0001044 6.214e-05 0.0002619 0.0001001 0.0001091 NA 6.232e-05 NA 0.0001976 32040421 CYP21A2 1589 . GRCh38 chr6 32040699 32040699 + Missense_Mutation SNP G G T novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1150G>T p.Val384Phe p.V384F ENST00000644719 9/10 NA NA NA NA NA NA CYP21A2,missense_variant,p.Val384Phe,ENST00000644719,NM_000500.9;CYP21A2,missense_variant,p.Val354Phe,ENST00000435122,NM_001368143.2,NM_001368144.2,NM_001128590.4;TNXB,downstream_gene_variant,,ENST00000375244,;TNXB,downstream_gene_variant,,ENST00000451343,NM_032470.3;CYP21A2,downstream_gene_variant,,ENST00000471671,;CYP21A2,downstream_gene_variant,,ENST00000478281,;TNXB,downstream_gene_variant,,ENST00000611016,;TNXB,downstream_gene_variant,,ENST00000644971,NM_019105.8,NM_001365276.2;TNXB,downstream_gene_variant,,ENST00000647633,;C4B-AS1,upstream_gene_variant,,ENST00000415626,;CYP21A2,non_coding_transcript_exon_variant,,ENST00000479074,;CYP21A2,non_coding_transcript_exon_variant,,ENST00000479730,;CYP21A2,non_coding_transcript_exon_variant,,ENST00000486063,;CYP21A2,non_coding_transcript_exon_variant,,ENST00000483041,;CYP21A2,downstream_gene_variant,,ENST00000462278,;CYP21A2,downstream_gene_variant,,ENST00000464325,;CYP21A2,downstream_gene_variant,,ENST00000466779,;CYP21A2,downstream_gene_variant,,ENST00000466879,;CYP21A2,downstream_gene_variant,,ENST00000469053,;CYP21A2,downstream_gene_variant,,ENST00000480027,;CYP21A2,downstream_gene_variant,,ENST00000488465,;TNXB,downstream_gene_variant,,ENST00000490077,;TNXB,downstream_gene_variant,,ENST00000498094,;,regulatory_region_variant,,ENSR00000787785,; T ENSG00000231852 ENST00000644719 Transcript missense_variant 1158/2006 1150/1488 384/495 V/F Gtc/Ttc 1 NA 1 CYP21A2 HGNC HGNC:2600 protein_coding YES CCDS4735.1 ENSP00000496625 Q16874.180 UPI0000073F52 NM_000500.9 deleterious(0.01) possibly_damaging(0.89) 9/10 Gene3D:1.10.630.10,PDB-ENSP_mappings:5vbu.A,PDB-ENSP_mappings:5vbu.B,PDB-ENSP_mappings:5vbu.C,Pfam:PF00067,PANTHER:PTHR24281,PANTHER:PTHR24281:SF2,Superfamily:SSF48264 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE NA SNV NA NA NA 1 . AGT . 2043.6 NA NA NA NA NA NA NA NA NA 32040699 TNXB 7148 . GRCh38 chr6 32056697 32056697 + Missense_Mutation SNP C C T rs527511337 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.8773G>A p.Glu2925Lys p.E2925K ENST00000647633 24/45 NA NA NA NA NA NA TNXB,missense_variant,p.Glu2925Lys,ENST00000647633,;TNXB,missense_variant,p.Glu2678Lys,ENST00000375244,;TNXB,missense_variant,p.Glu2678Lys,ENST00000644971,NM_019105.8,NM_001365276.2;TNXB,missense_variant,p.Glu398Lys,ENST00000611016,; T ENSG00000168477 ENST00000647633 Transcript missense_variant 8933/13831 8773/13476 2925/4491 E/K Gag/Aag rs527511337,COSV64478311 1 NA -1 TNXB HGNC HGNC:11976 protein_coding YES ENSP00000497649 A0A3B3ISX9.10 UPI000E6F2261 tolerated(0.07) probably_damaging(0.997) 24/45 Gene3D:2.60.40.10,Pfam:PF00041,PROSITE_profiles:PS50853,PANTHER:PTHR46708,PANTHER:PTHR46708:SF3,SMART:SM00060,Superfamily:SSF49265,CDD:cd00063 2e-04 NA NA NA NA NA 0.001 NA NA 0,1 NA NA NA NA MODERATE 1 SNV NA NA 0,1 NA 1 . TCG . 6218.6 2.437e-05 NA 2.9e-05 NA 5.575e-05 9.288e-05 9.017e-06 NA 3.268e-05 32056697 NOTCH4 4855 . GRCh38 chr6 32223882 32223887 + In_Frame_Del DEL AGCAGC AGCAGC - rs35795312 NA HCI-EC-23 NORMAL AGCAGC AGCAGC NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.42_47del p.Leu15_Leu16del p.L15_L16del ENST00000375023 1/30 NA NA NA NA NA NA NOTCH4,inframe_deletion,p.Leu15_Leu16del,ENST00000375023,NM_004557.4;NOTCH4,non_coding_transcript_exon_variant,,ENST00000473562,;,regulatory_region_variant,,ENSR00000787848,; - ENSG00000204301 ENST00000375023 Transcript inframe_deletion 181-186/6745 42-47/6012 14-16/2003 LLL/L ctGCTGCTa/cta rs35795312 1 NA -1 NOTCH4 HGNC HGNC:7884 protein_coding YES CCDS34420.1 ENSP00000364163 Q99466.210 A0A1U9X983.22 UPI0000130571 NM_004557.4 1/30 PIRSF:PIRSF002279,PANTHER:PTHR24044,PANTHER:PTHR24044:SF450,Cleavage_site_(Signalp):SignalP-noTM,Low_complexity_(Seg):seg NA 0.0015 NA NA 0.003 NA NA NA NA NA NA NA NA MODERATE 1 deletion 1 NA 1 NA NA . ATAGCAGCA . 3157.6 NA NA NA NA NA NA NA NA NA 32223881 TSBP1 10665 . GRCh38 chr6 32293612 32293613 + In_Frame_Ins INS - - TTACTTGGGCTTCTTGTCCTTTTGGGACACCTGACTCACTCTTCT rs769092254 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1001_1045dup p.Lys334_Val348dup p.K334_V348dup ENST00000617061 32/33 NA NA NA NA NA NA TSBP1,inframe_insertion,p.Lys339_Val353dup,ENST00000612031,;TSBP1,inframe_insertion,p.Lys338_Val352dup,ENST00000375015,;TSBP1,inframe_insertion,p.Lys337_Val351dup,ENST00000533191,NM_001286474.2;TSBP1,inframe_insertion,p.Lys339_Val353dup,ENST00000447241,NM_006781.5;TSBP1,inframe_insertion,p.Lys337_Val351dup,ENST00000375007,;TSBP1,inframe_insertion,p.Lys323_Val337dup,ENST00000527965,NM_001286475.2;TSBP1,inframe_insertion,p.Lys334_Val348dup,ENST00000617061,;TSBP1,inframe_insertion,p.Lys330_Val344dup,ENST00000442822,;TSBP1-AS1,intron_variant,,ENST00000611838,;TSBP1-AS1,intron_variant,,ENST00000642577,;TSBP1-AS1,intron_variant,,ENST00000645134,;TSBP1-AS1,intron_variant,,ENST00000645167,;TSBP1-AS1,intron_variant,,ENST00000646550,;TSBP1-AS1,intron_variant,,ENST00000646628,;TSBP1-AS1,intron_variant,,ENST00000647036,;TSBP1-AS1,intron_variant,,ENST00000653107,;TSBP1-AS1,intron_variant,,ENST00000653523,;TSBP1-AS1,intron_variant,,ENST00000653922,; TTACTTGGGCTTCTTGTCCTTTTGGGACACCTGACTCACTCTTCT ENSG00000204296 ENST00000617061 Transcript inframe_insertion 1251-1252/1904 1045-1046/1698 349/565 T/KKSESGVPKGQEAQVT acg/aAGAAGAGTGAGTCAGGTGTCCCAAAAGGACAAGAAGCCCAAGTAAcg rs769092254 1 NA -1 TSBP1 HGNC HGNC:13922 protein_coding YES ENSP00000482001 A0A087WYQ2.36 UPI0001AE72A4 32/33 PANTHER:PTHR14368,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 insertion 5 NA NA NA . CGT . 3300.64 6.911e-05 NA 2.904e-05 NA NA NA 0.0001452 NA NA 32293612 HLA-DRB5 3127 . GRCh38 chr6 32518577 32518577 + Missense_Mutation SNP T T G rs200248759 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.742A>C p.Ile248Leu p.I248L ENST00000374975 4/6 NA NA NA NA NA NA HLA-DRB5,missense_variant,p.Ile248Leu,ENST00000374975,NM_002125.4;,regulatory_region_variant,,ENSR00001109131,; G ENSG00000198502 ENST00000374975 Transcript missense_variant 805/1250 742/801 248/266 I/L Atc/Ctc rs200248759 1 NA -1 HLA-DRB5 HGNC HGNC:4953 protein_coding YES CCDS4751.1 ENSP00000364114 Q30154.176 A0A2Z4LKS3.14 UPI000008AF56 NM_002125.4 deleterious(0.03) probably_damaging(0.959) 4/6 Transmembrane_helices:TMhelix,PANTHER:PTHR19944,PANTHER:PTHR19944:SF95 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV NA NA NA NA . ATG . 314.6 NA NA NA NA NA NA NA NA NA 32518577 HLA-DRB5 3127 . GRCh38 chr6 32518578 32518578 + Silent SNP G G A rs201290705 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.741C>T p.Phe247= p.F247= ENST00000374975 4/6 NA NA NA NA NA NA HLA-DRB5,synonymous_variant,p.Phe247=,ENST00000374975,NM_002125.4;,regulatory_region_variant,,ENSR00001109131,; A ENSG00000198502 ENST00000374975 Transcript synonymous_variant 804/1250 741/801 247/266 F ttC/ttT rs201290705 1 NA -1 HLA-DRB5 HGNC HGNC:4953 protein_coding YES CCDS4751.1 ENSP00000364114 Q30154.176 A0A2Z4LKS3.14 UPI000008AF56 NM_002125.4 4/6 Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PANTHER:PTHR19944,PANTHER:PTHR19944:SF95 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV NA NA NA NA . TGA . 314.6 NA NA NA NA NA NA NA NA NA 32518578 HLA-DRB5 3127 . GRCh38 chr6 32518581 32518581 + Silent SNP T T C rs17850459 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.738A>G p.Leu246= p.L246= ENST00000374975 4/6 NA NA NA NA NA NA HLA-DRB5,synonymous_variant,p.Leu246=,ENST00000374975,NM_002125.4;,regulatory_region_variant,,ENSR00001109131,; C ENSG00000198502 ENST00000374975 Transcript synonymous_variant 801/1250 738/801 246/266 L ctA/ctG rs17850459 1 NA -1 HLA-DRB5 HGNC HGNC:4953 protein_coding YES CCDS4751.1 ENSP00000364114 Q30154.176 A0A2Z4LKS3.14 UPI000008AF56 NM_002125.4 4/6 Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PANTHER:PTHR19944,PANTHER:PTHR19944:SF95 NA 0.7057 0.7824 NA 0.6062 0.7177 0.5092 NA NA NA NA NA NA LOW 1 SNV NA NA NA NA . ATA . 481.02 1.427e-05 0.0002313 NA NA NA NA NA NA NA 32518581 HLA-DRB5 3127 . GRCh38 chr6 32530209 32530209 + Missense_Mutation SNP G G A rs200744795 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.16C>T p.Leu6Phe p.L6F ENST00000374975 1/6 NA NA NA NA NA NA HLA-DRB5,missense_variant,p.Leu6Phe,ENST00000374975,NM_002125.4;,regulatory_region_variant,,ENSR00000787908,; A ENSG00000198502 ENST00000374975 Transcript missense_variant 79/1250 16/801 6/266 L/F Ctc/Ttc rs200744795 1 NA -1 HLA-DRB5 HGNC HGNC:4953 protein_coding YES CCDS4751.1 ENSP00000364114 Q30154.176 A0A2Z4LKS3.14 UPI000008AF56 NM_002125.4 tolerated(0.59) benign(0.007) 1/6 Cleavage_site_(Signalp):SignalP-noTM,PANTHER:PTHR19944,PANTHER:PTHR19944:SF95,Superfamily:SSF54452 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV NA NA NA NA . AGC . 3345.6 NA NA NA NA NA NA NA NA NA 32530209 HLA-DRB5 3127 . GRCh38 chr6 32530211 32530211 + Missense_Mutation SNP T T C rs201883078 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.14A>G p.Lys5Arg p.K5R ENST00000374975 1/6 NA NA NA NA NA NA HLA-DRB5,missense_variant,p.Lys5Arg,ENST00000374975,NM_002125.4;,regulatory_region_variant,,ENSR00000787908,; C ENSG00000198502 ENST00000374975 Transcript missense_variant 77/1250 14/801 5/266 K/R aAg/aGg rs201883078,COSV66612195 1 NA -1 HLA-DRB5 HGNC HGNC:4953 protein_coding YES CCDS4751.1 ENSP00000364114 Q30154.176 A0A2Z4LKS3.14 UPI000008AF56 NM_002125.4 tolerated(0.89) benign(0.005) 1/6 Cleavage_site_(Signalp):SignalP-noTM,PANTHER:PTHR19944,PANTHER:PTHR19944:SF95 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV NA NA 0,1 NA NA . CTT . 2084.6 NA NA NA NA NA NA NA NA NA 32530211 HLA-DQA2 3118 . GRCh38 chr6 32741503 32741503 + Silent SNP C C T rs745328209 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.60C>T p.Pro20= p.P20= ENST00000374940 1/5 NA NA NA NA NA NA HLA-DQA2,synonymous_variant,p.Pro20=,ENST00000374940,NM_020056.5; T ENSG00000237541 ENST00000374940 Transcript synonymous_variant 113/1458 60/768 20/255 P ccC/ccT rs745328209 1 NA 1 HLA-DQA2 HGNC HGNC:4943 protein_coding YES CCDS4753.1 ENSP00000364076 P01906.179 Q76NI6.23 UPI0000001086 NM_020056.5 1/5 Cleavage_site_(Signalp):SignalP-noTM,PANTHER:PTHR19944,PANTHER:PTHR19944:SF94 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV NA NA NA 1 . CCT . 566.6 NA NA NA NA NA NA NA NA NA 32741503 HLA-DQA2 3118 . GRCh38 chr6 32746348 32746348 + Missense_Mutation SNP A A G rs200904145 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.722A>G p.Gln241Arg p.Q241R ENST00000374940 4/5 NA NA NA NA NA NA HLA-DQA2,missense_variant,p.Gln241Arg,ENST00000374940,NM_020056.5;MIR3135B,downstream_gene_variant,,ENST00000581098,;,regulatory_region_variant,,ENSR00001109162,; G ENSG00000237541 ENST00000374940 Transcript missense_variant 775/1458 722/768 241/255 Q/R cAa/cGa rs200904145 1 NA 1 HLA-DQA2 HGNC HGNC:4943 protein_coding YES CCDS4753.1 ENSP00000364076 P01906.179 Q76NI6.23 UPI0000001086 NM_020056.5 tolerated(0.55) benign(0.001) 4/5 PANTHER:PTHR19944,PANTHER:PTHR19944:SF94 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV NA NA NA 1 . CAA . 97.6 1.652e-05 0.0001346 NA NA 5.673e-05 NA 9.214e-06 NA NA 32746348 HLA-DQB2 3120 . GRCh38 chr6 32758893 32758893 + Missense_Mutation SNP T T G rs745952197 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.603A>C p.Gln201His p.Q201H ENST00000435145 3/5 NA NA NA NA NA NA HLA-DQB2,missense_variant,p.Gln201His,ENST00000435145,;HLA-DQB2,missense_variant,p.Gln201His,ENST00000437316,NM_001300790.2;HLA-DQB2,missense_variant,p.Gln201His,ENST00000411527,NM_001198858.2;HLA-DQB2,missense_variant,p.Gln200His,ENST00000427449,; G ENSG00000232629 ENST00000435145 Transcript missense_variant 665/2026 603/828 201/275 Q/H caA/caC rs745952197,COSV68615147 1 NA -1 HLA-DQB2 HGNC HGNC:4945 protein_coding YES ENSP00000410512 A2ADX3.127 UPI0000160559 tolerated(0.89) benign(0) 3/5 PROSITE_profiles:PS50835,CDD:cd05766,PANTHER:PTHR19944:SF68,PANTHER:PTHR19944,PROSITE_patterns:PS00290,Pfam:PF07654,Gene3D:2.60.40.10,SMART:SM00407,Superfamily:SSF48726 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV NA NA 0,1 NA NA . CTT . 121.6 3.646e-05 0.0003362 NA NA 5.548e-05 NA 2.691e-05 NA NA 32758893 HLA-DQB2 3120 . GRCh38 chr6 32758907 32758907 + Missense_Mutation SNP T T C rs763261464 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.589A>G p.Ile197Val p.I197V ENST00000435145 3/5 NA NA NA NA NA NA HLA-DQB2,missense_variant,p.Ile197Val,ENST00000435145,;HLA-DQB2,missense_variant,p.Ile197Val,ENST00000437316,NM_001300790.2;HLA-DQB2,missense_variant,p.Ile197Val,ENST00000411527,NM_001198858.2;HLA-DQB2,missense_variant,p.Ile196Val,ENST00000427449,; C ENSG00000232629 ENST00000435145 Transcript missense_variant 651/2026 589/828 197/275 I/V Atc/Gtc rs763261464,COSV68614711 1 NA -1 HLA-DQB2 HGNC HGNC:4945 protein_coding YES ENSP00000410512 A2ADX3.127 UPI0000160559 tolerated(1) benign(0.009) 3/5 PROSITE_profiles:PS50835,CDD:cd05766,PANTHER:PTHR19944:SF68,PANTHER:PTHR19944,Pfam:PF07654,Gene3D:2.60.40.10,SMART:SM00407,Superfamily:SSF48726 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV NA NA 0,1 NA NA . ATG . 170.6 2.434e-05 0.0001334 NA 0.0001006 NA NA 2.69e-05 NA NA 32758907 HLA-DQB2 3120 . GRCh38 chr6 32758965 32758965 + Silent SNP A A G rs745898010 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.531T>C p.Asn177= p.N177= ENST00000435145 3/5 NA NA NA NA NA NA HLA-DQB2,synonymous_variant,p.Asn177=,ENST00000435145,;HLA-DQB2,synonymous_variant,p.Asn177=,ENST00000437316,NM_001300790.2;HLA-DQB2,synonymous_variant,p.Asn177=,ENST00000411527,NM_001198858.2;HLA-DQB2,synonymous_variant,p.Asn176=,ENST00000427449,; G ENSG00000232629 ENST00000435145 Transcript synonymous_variant 593/2026 531/828 177/275 N aaT/aaC rs745898010 1 NA -1 HLA-DQB2 HGNC HGNC:4945 protein_coding YES ENSP00000410512 A2ADX3.127 UPI0000160559 3/5 PROSITE_profiles:PS50835,CDD:cd05766,PANTHER:PTHR19944:SF68,PANTHER:PTHR19944,Pfam:PF07654,Gene3D:2.60.40.10,SMART:SM00407,Superfamily:SSF48726 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV NA NA NA NA . CAT . 2227.6 4.023e-05 0.0001973 NA NA NA NA 5.33e-05 0.0001657 NA 32758965 HLA-DQB2 3120 . GRCh38 chr6 32758974 32758974 + Silent SNP G G A rs780217889 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.522C>T p.Leu174= p.L174= ENST00000435145 3/5 NA NA NA NA NA NA HLA-DQB2,synonymous_variant,p.Leu174=,ENST00000435145,;HLA-DQB2,synonymous_variant,p.Leu174=,ENST00000437316,NM_001300790.2;HLA-DQB2,synonymous_variant,p.Leu174=,ENST00000411527,NM_001198858.2;HLA-DQB2,synonymous_variant,p.Leu173=,ENST00000427449,; A ENSG00000232629 ENST00000435145 Transcript synonymous_variant 584/2026 522/828 174/275 L ctC/ctT rs780217889 1 NA -1 HLA-DQB2 HGNC HGNC:4945 protein_coding YES ENSP00000410512 A2ADX3.127 UPI0000160559 3/5 PROSITE_profiles:PS50835,CDD:cd05766,PANTHER:PTHR19944:SF68,PANTHER:PTHR19944,Pfam:PF07654,Gene3D:2.60.40.10,SMART:SM00407,Superfamily:SSF48726 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV NA NA NA NA . TGA . 2561.6 2.414e-05 NA NA NA NA NA 4.443e-05 NA 3.274e-05 32758974 HLA-DQB2 3120 . GRCh38 chr6 32758979 32758979 + Missense_Mutation SNP A A G rs769047510 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.517T>C p.Ser173Pro p.S173P ENST00000435145 3/5 NA NA NA NA NA NA HLA-DQB2,missense_variant,p.Ser173Pro,ENST00000435145,;HLA-DQB2,missense_variant,p.Ser173Pro,ENST00000437316,NM_001300790.2;HLA-DQB2,missense_variant,p.Ser173Pro,ENST00000411527,NM_001198858.2;HLA-DQB2,missense_variant,p.Ser172Pro,ENST00000427449,; G ENSG00000232629 ENST00000435145 Transcript missense_variant 579/2026 517/828 173/275 S/P Tcc/Ccc rs769047510 1 NA -1 HLA-DQB2 HGNC HGNC:4945 protein_coding YES ENSP00000410512 A2ADX3.127 UPI0000160559 tolerated(0.49) benign(0.003) 3/5 PROSITE_profiles:PS50835,CDD:cd05766,PANTHER:PTHR19944:SF68,PANTHER:PTHR19944,Pfam:PF07654,Gene3D:2.60.40.10,SMART:SM00407,Superfamily:SSF48726 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV NA NA NA NA . GAG . 2689.6 2.827e-05 0.0001312 NA NA NA NA 4.464e-05 NA NA 32758979 HLA-DQB2 3120 . GRCh38 chr6 32758992 32758992 + Silent SNP A A G rs201563919 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.504T>C p.Gly168= p.G168= ENST00000435145 3/5 NA NA NA NA NA NA HLA-DQB2,synonymous_variant,p.Gly168=,ENST00000435145,;HLA-DQB2,synonymous_variant,p.Gly168=,ENST00000437316,NM_001300790.2;HLA-DQB2,synonymous_variant,p.Gly168=,ENST00000411527,NM_001198858.2;HLA-DQB2,synonymous_variant,p.Gly167=,ENST00000427449,; G ENSG00000232629 ENST00000435145 Transcript synonymous_variant 566/2026 504/828 168/275 G ggT/ggC rs201563919,COSV68616236 1 NA -1 HLA-DQB2 HGNC HGNC:4945 protein_coding YES ENSP00000410512 A2ADX3.127 UPI0000160559 3/5 PROSITE_profiles:PS50835,CDD:cd05766,PANTHER:PTHR19944:SF68,PANTHER:PTHR19944,Pfam:PF07654,Gene3D:2.60.40.10,SMART:SM00407,Superfamily:SSF48726 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA LOW 1 SNV NA NA 0,1 NA NA . CAC . 3927.6 0.0001985 0.0002877 0.0001576 0.0002198 0.0001217 NA 0.0002732 NA 0.0001479 32758992 SYNGAP1 8831 . GRCh38 chr6 33440745 33440745 + Silent SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1693C>T p.Leu565= p.L565= ENST00000646630 11/19 NA NA NA NA NA NA SYNGAP1,synonymous_variant,p.Leu565=,ENST00000646630,NM_006772.3;SYNGAP1,synonymous_variant,p.Leu565=,ENST00000629380,;SYNGAP1,synonymous_variant,p.Leu565=,ENST00000418600,;SYNGAP1,synonymous_variant,p.Leu506=,ENST00000428982,;SYNGAP1,synonymous_variant,p.Leu565=,ENST00000628646,;SYNGAP1,synonymous_variant,p.Leu565=,ENST00000644458,;SYNGAP1,synonymous_variant,p.Leu506=,ENST00000645250,;SYNGAP1,synonymous_variant,p.Leu565=,ENST00000449372,NM_001130066.2;SYNGAP1-AS1,intron_variant,,ENST00000630418,;MIR5004,downstream_gene_variant,,ENST00000579078,;SYNGAP1,upstream_gene_variant,,ENST00000636193,;SYNGAP1,upstream_gene_variant,,ENST00000636640,;SYNGAP1,upstream_gene_variant,,ENST00000637671,;SYNGAP1,synonymous_variant,p.Leu550=,ENST00000293748,;SYNGAP1,3_prime_UTR_variant,,ENST00000638142,;SYNGAP1,downstream_gene_variant,,ENST00000479510,;,regulatory_region_variant,,ENSR00000788147,;,TF_binding_site_variant,,ENSM00498321955,; T ENSG00000197283 ENST00000646630 Transcript synonymous_variant 1893/6015 1693/4032 565/1343 L Ctg/Ttg 1 NA 1 SYNGAP1 HGNC HGNC:11497 protein_coding YES CCDS34434.2 ENSP00000496007 Q96PV0.167 A0A1U9X8L0.22 UPI0000470C44 NM_006772.3 11/19 Gene3D:1.10.506.10,Gene3D:1.10.506.20,Pfam:PF00616,PROSITE_profiles:PS50018,PANTHER:PTHR10194,PANTHER:PTHR10194:SF25,SMART:SM00323,Superfamily:SSF48350,CDD:cd05136 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW NA SNV NA NA NA 1 . GCT . 2758.6 NA NA NA NA NA NA NA NA NA 33440745 GRM4 2914 . GRCh38 chr6 34133186 34133186 + Missense_Mutation SNP C C T rs1006772500 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.311G>A p.Arg104His p.R104H ENST00000538487 2/11 NA NA NA NA NA NA GRM4,missense_variant,p.Arg104His,ENST00000538487,NM_001282847.2,NM_000841.4;GRM4,missense_variant,p.Arg104His,ENST00000374181,NM_001256811.2;GRM4,intron_variant,,ENST00000374177,NM_001256809.2;GRM4,missense_variant,p.Arg104His,ENST00000609278,;GRM4,non_coding_transcript_exon_variant,,ENST00000607916,;GRM4,upstream_gene_variant,,ENST00000609973,; T ENSG00000124493 ENST00000538487 Transcript missense_variant 762/7368 311/2739 104/912 R/H cGc/cAc rs1006772500,COSV65219435 1 NA -1 GRM4 HGNC HGNC:4596 protein_coding YES CCDS4787.1 ENSP00000440556 Q14833.170 A1L4F9.129 UPI000004A7DE NM_001282847.2,NM_000841.4 tolerated(0.81) probably_damaging(0.997) 2/11 Gene3D:3.40.50.2300,Pfam:PF01094,Prints:PR00248,PANTHER:PTHR24060,PANTHER:PTHR24060:SF23,Superfamily:SSF53822 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 2 NA 0,1 NA NA . GCG . 10744.6 NA NA NA NA NA NA NA NA NA 34133186 PACSIN1 29993 . GRCh38 chr6 34529797 34529797 + Silent SNP G G A rs760044717 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.744G>A p.Val248= p.V248= ENST00000620693 6/10 NA NA NA NA NA NA PACSIN1,synonymous_variant,p.Val248=,ENST00000620693,;PACSIN1,synonymous_variant,p.Val248=,ENST00000244458,NM_020804.5;PACSIN1,synonymous_variant,p.Val248=,ENST00000538621,NM_001199583.2;PACSIN1,synonymous_variant,p.Val206=,ENST00000374043,;PACSIN1,downstream_gene_variant,,ENST00000486120,;PACSIN1,downstream_gene_variant,,ENST00000487760,;PACSIN1,downstream_gene_variant,,ENST00000493633,;,regulatory_region_variant,,ENSR00000788527,;,regulatory_region_variant,,ENSR00000788528,; A ENSG00000124507 ENST00000620693 Transcript synonymous_variant 1017/4299 744/1335 248/444 V gtG/gtA rs760044717 1 NA 1 PACSIN1 HGNC HGNC:8570 protein_coding YES CCDS4793.1 ENSP00000484060 Q9BY11.156 Q5TZC3.133 UPI000000D983 6/10 PDB-ENSP_mappings:3hah.A,PDB-ENSP_mappings:3hah.B,PDB-ENSP_mappings:3hai.A,PDB-ENSP_mappings:3hai.B,PDB-ENSP_mappings:3hai.C,PDB-ENSP_mappings:3hai.D,PDB-ENSP_mappings:3q84.A,PDB-ENSP_mappings:3q84.B,PDB-ENSP_mappings:3q84.G,PDB-ENSP_mappings:3q84.H,PDB-ENSP_mappings:3q84.M,PDB-ENSP_mappings:3q84.N,PDB-ENSP_mappings:3qni.A,PDB-ENSP_mappings:3qni.B,PROSITE_profiles:PS51741,CDD:cd07680,PANTHER:PTHR23065,PANTHER:PTHR23065:SF16,Gene3D:1.20.1270.60,Superfamily:SSF103657 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . TGC . 850.6 3.987e-06 NA NA NA 5.441e-05 NA NA NA NA 34529797 UHRF1BP1 54887 . GRCh38 chr6 34857358 34857358 + Silent SNP G G A NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1461G>A p.Lys487= p.K487= ENST00000192788 12/21 NA NA NA NA NA NA UHRF1BP1,synonymous_variant,p.Lys487=,ENST00000192788,NM_017754.4;UHRF1BP1,synonymous_variant,p.Lys487=,ENST00000452449,; A ENSG00000065060 ENST00000192788 Transcript synonymous_variant 1629/9567 1461/4323 487/1440 K aaG/aaA COSV51954853 1 NA 1 UHRF1BP1 HGNC HGNC:21216 protein_coding YES CCDS43455.1 ENSP00000192788 Q6BDS2.127 UPI00001B654C NM_017754.4 12/21 PANTHER:PTHR22774,PANTHER:PTHR22774:SF15 NA NA NA NA NA NA NA NA NA 1 NA NA NA NA LOW 1 SNV 1 NA 1 NA NA . AGC . 369.6 NA NA NA NA NA NA NA NA NA 34857358 TULP1 7287 . GRCh38 chr6 35512663 35512663 + Silent SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.75G>A p.Pro25= p.P25= ENST00000229771 2/15 NA NA NA NA NA NA TULP1,synonymous_variant,p.Pro25=,ENST00000229771,NM_003322.6;TULP1,synonymous_variant,p.Pro25=,ENST00000614066,;TULP1,synonymous_variant,p.Pro25=,ENST00000322263,NM_001289395.2;TULP1,synonymous_variant,p.Pro25=,ENST00000428978,;TULP1,upstream_gene_variant,,ENST00000373892,;TULP1,upstream_gene_variant,,ENST00000448446,; T ENSG00000112041 ENST00000229771 Transcript synonymous_variant 113/2120 75/1629 25/542 P ccG/ccA 1 NA -1 TULP1 HGNC HGNC:12423 protein_coding YES CCDS4807.1 ENSP00000229771 O00294.168 UPI000045742A NM_003322.6 2/15 Low_complexity_(Seg):seg,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite,PANTHER:PTHR16517,PANTHER:PTHR16517:SF12 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . CCG . 745.6 NA NA NA NA NA NA NA NA NA 35512663 DNAH8 1769 . GRCh38 chr6 38823018 38823018 + Missense_Mutation SNP G G A rs777609925 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3704G>A p.Arg1235His p.R1235H ENST00000327475 27/93 NA NA NA NA NA NA DNAH8,missense_variant,p.Arg1235His,ENST00000327475,NM_001206927.2;DNAH8,missense_variant,p.Arg1018His,ENST00000359357,NM_001371.4;DNAH8,missense_variant,p.Arg1235His,ENST00000449981,;AL035555.1,upstream_gene_variant,,ENST00000391284,; A ENSG00000124721 ENST00000327475 Transcript missense_variant 3843/14663 3704/14124 1235/4707 R/H cGc/cAc rs777609925,COSV59464146,COSV59471463 1 NA 1 DNAH8 HGNC HGNC:2952 protein_coding YES CCDS75447.1 ENSP00000333363 A0A075B6F3.42 UPI000179A984 NM_001206927.2 tolerated(0.05) possibly_damaging(0.625) 27/93 PANTHER:PTHR10676,PANTHER:PTHR10676:SF361 NA NA NA NA NA NA NA NA NA 0,1,1 NA NA NA NA MODERATE 1 SNV 5 NA 0,1,1 NA NA . CGC . 2579.6 9.268e-06 NA NA NA NA 4.914e-05 9.645e-06 NA NA 38823018 KCNK5 8645 . GRCh38 chr6 39191033 39191033 + Frame_Shift_Del DEL C C - novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1357del p.Ala453LeufsTer7 p.A453Lfs*7 ENST00000359534 5/5 NA NA NA NA NA NA KCNK5,frameshift_variant,p.Ala453LeufsTer7,ENST00000359534,NM_003740.4;,regulatory_region_variant,,ENSR00000320543,; - ENSG00000164626 ENST00000359534 Transcript frameshift_variant 1721/3783 1357/1500 453/499 A/X Gct/ct 1 NA -1 KCNK5 HGNC HGNC:6280 protein_coding YES CCDS4841.1 ENSP00000352527 O95279.158 A0A024RD32.40 UPI000003AFB5 NM_003740.4 5/5 PANTHER:PTHR11003,PANTHER:PTHR11003:SF241,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 NA NA NA . AGCC . 6688.6 NA NA NA NA NA NA NA NA NA 39191032 FRS3 10817 . GRCh38 chr6 41771152 41771152 + Missense_Mutation SNP G G A rs754360826 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.946C>T p.Arg316Trp p.R316W ENST00000373018 7/7 NA NA NA NA NA NA FRS3,missense_variant,p.Arg316Trp,ENST00000373018,NM_006653.5;FRS3,missense_variant,p.Arg316Trp,ENST00000259748,;FRS3,downstream_gene_variant,,ENST00000422888,;FRS3,downstream_gene_variant,,ENST00000426290,; A ENSG00000137218 ENST00000373018 Transcript missense_variant 1198/2174 946/1479 316/492 R/W Cgg/Tgg rs754360826 1 NA -1 FRS3 HGNC HGNC:16970 protein_coding YES CCDS4860.1 ENSP00000362109 O43559.154 A0A140VJJ7.30 UPI0000073ACA NM_006653.5 deleterious(0) probably_damaging(0.999) 7/7 PANTHER:PTHR21258:SF39,PANTHER:PTHR21258 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 3 NA NA NA . CGG . 4028.6 NA NA NA NA NA NA NA NA NA 41771152 USP49 25862 . GRCh38 chr6 41806899 41806899 + Missense_Mutation SNP A A G novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.85T>C p.Cys29Arg p.C29R ENST00000394253 3/7 NA NA NA NA NA NA USP49,missense_variant,p.Cys29Arg,ENST00000394253,NM_001286554.1;USP49,missense_variant,p.Cys29Arg,ENST00000373006,NM_018561.5;USP49,missense_variant,p.Cys29Arg,ENST00000373010,;USP49,downstream_gene_variant,,ENST00000423567,;USP49,upstream_gene_variant,,ENST00000448078,; G ENSG00000164663 ENST00000394253 Transcript missense_variant 415/9034 85/2067 29/688 C/R Tgt/Cgt 1 NA -1 USP49 HGNC HGNC:20078 protein_coding YES CCDS69111.1 ENSP00000377797 Q70CQ1.143 UPI000020DCE0 NM_001286554.1 deleterious(0) probably_damaging(1) 3/7 Gene3D:3.30.40.10,Pfam:PF02148,PROSITE_profiles:PS50271,PANTHER:PTHR21646,PANTHER:PTHR21646:SF7,SMART:SM00290,Superfamily:SSF57850 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . CAC . 3709.6 NA NA NA NA NA NA NA NA NA 41806899 TTBK1 84630 . GRCh38 chr6 43263049 43263049 + Missense_Mutation SNP G G A rs1335993827 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1685G>A p.Ser562Asn p.S562N ENST00000259750 13/15 NA NA NA NA NA NA TTBK1,missense_variant,p.Ser562Asn,ENST00000259750,NM_032538.3;TTBK1,missense_variant,p.Ser511Asn,ENST00000304139,;,regulatory_region_variant,,ENSR00000320660,; A ENSG00000146216 ENST00000259750 Transcript missense_variant 1967/7130 1685/3966 562/1321 S/N aGc/aAc rs1335993827 1 NA 1 TTBK1 HGNC HGNC:19140 protein_coding YES CCDS34455.1 ENSP00000259750 Q5TCY1.139 UPI000041512B NM_032538.3 deleterious(0) possibly_damaging(0.714) 13/15 PANTHER:PTHR11909,PANTHER:PTHR11909:SF297,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . AGC . 3425.6 NA NA NA NA NA NA NA NA NA 43263049 ZNF318 24149 . GRCh38 chr6 43354903 43354903 + Missense_Mutation SNP A A G novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2431T>C p.Ser811Pro p.S811P ENST00000361428 4/10 NA NA NA NA NA NA ZNF318,missense_variant,p.Ser811Pro,ENST00000361428,NM_014345.3;ZNF318,missense_variant,p.Ser811Pro,ENST00000605935,; G ENSG00000171467 ENST00000361428 Transcript missense_variant 2713/8210 2431/6840 811/2279 S/P Tca/Cca 1 NA -1 ZNF318 HGNC HGNC:13578 protein_coding YES CCDS4895.2 ENSP00000354964 Q5VUA4.143 UPI000049E044 NM_014345.3 tolerated(0.55) benign(0) 4/10 PANTHER:PTHR15577 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . GAC . 4710.6 NA NA NA NA NA NA NA NA NA 43354903 GTPBP2 54676 . GRCh38 chr6 43621773 43621773 + Silent SNP G G A rs199833115 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1650C>T p.Gly550= p.G550= ENST00000307126 12/12 NA NA NA NA NA NA GTPBP2,synonymous_variant,p.Gly550=,ENST00000307126,NM_019096.5;GTPBP2,synonymous_variant,p.Gly462=,ENST00000307114,NM_001286216.1;GTPBP2,synonymous_variant,p.Gly119=,ENST00000419497,;GTPBP2,3_prime_UTR_variant,,ENST00000432918,;POLH,downstream_gene_variant,,ENST00000372236,NM_006502.3,NM_001291969.2;GTPBP2,downstream_gene_variant,,ENST00000442748,;GTPBP2,downstream_gene_variant,,ENST00000452781,;GTPBP2,non_coding_transcript_exon_variant,,ENST00000476510,;GTPBP2,downstream_gene_variant,,ENST00000459959,;GTPBP2,downstream_gene_variant,,ENST00000480263,;GTPBP2,synonymous_variant,p.Gly61=,ENST00000496137,; A ENSG00000172432 ENST00000307126 Transcript synonymous_variant 1752/3031 1650/1809 550/602 G ggC/ggT rs199833115 1 NA -1 GTPBP2 HGNC HGNC:4670 protein_coding YES CCDS4903.1 ENSP00000303997 Q9BX10.147 A0A024RD30.44 UPI0000070C45 NM_019096.5 12/12 CDD:cd03708,PANTHER:PTHR43721:SF10,PANTHER:PTHR43721,Gene3D:2.40.30.10,Superfamily:SSF50465 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . CGC . 5723.6 7.564e-05 6.155e-05 5.784e-05 NA NA NA 0.0001322 0.000163 NA 43621773 RSPH9 221421 . GRCh38 chr6 43650375 43650375 + Splice_Region SNP C C T rs1044367157 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.228C>T p.Ser76= p.S76= ENST00000372165 2/6 NA NA NA NA NA NA RSPH9,splice_region_variant,p.Ser76=,ENST00000372165,NM_001193341.1;RSPH9,splice_region_variant,p.Ser76=,ENST00000372163,NM_152732.5; T ENSG00000172426 ENST00000372165 Transcript splice_region_variant,synonymous_variant 281/2586 228/921 76/306 S agC/agT rs1044367157 1 NA 1 RSPH9 HGNC HGNC:21057 protein_coding YES CCDS55005.1 ENSP00000361238 Q9H1X1.135 UPI0000073514 NM_001193341.1 2/6 PANTHER:PTHR22069 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 2 NA NA 1 . GCC . 3844.6 NA NA NA NA NA NA NA NA NA 43650375 CDC5L 988 . GRCh38 chr6 44390309 44390309 + Silent SNP T T C NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.87T>C p.Asn29= p.N29= ENST00000371477 2/16 NA NA NA NA NA NA CDC5L,synonymous_variant,p.Asn29=,ENST00000371477,NM_001253.4; C ENSG00000096401 ENST00000371477 Transcript synonymous_variant 205/6241 87/2409 29/802 N aaT/aaC COSV65175122 1 NA 1 CDC5L HGNC HGNC:1743 protein_coding YES CCDS4912.1 ENSP00000360532 Q99459.198 UPI000006EE42 NM_001253.4 2/16 PDB-ENSP_mappings:2dim.A,PDB-ENSP_mappings:5mqf.L,PDB-ENSP_mappings:5xjc.L,PDB-ENSP_mappings:5yzg.L,PDB-ENSP_mappings:5z56.L,PDB-ENSP_mappings:5z57.L,PDB-ENSP_mappings:5z58.L,PDB-ENSP_mappings:6ff4.L,PDB-ENSP_mappings:6ff7.L,PDB-ENSP_mappings:6icz.L,PDB-ENSP_mappings:6id0.L,PDB-ENSP_mappings:6id1.L,PDB-ENSP_mappings:6qdv.O,PROSITE_profiles:PS51294,CDD:cd00167,PANTHER:PTHR45885,Pfam:PF13921,Gene3D:1.10.10.60,SMART:SM00717 NA NA NA NA NA NA NA NA NA 1 NA NA NA NA LOW 1 SNV 1 NA 1 NA NA . ATC . 209.6 NA NA NA NA NA NA NA NA NA 44390309 CDC5L 988 . GRCh38 chr6 44390342 44390342 + Silent SNP A A G rs781411018 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.120A>G p.Arg40= p.R40= ENST00000371477 2/16 NA NA NA NA NA NA CDC5L,synonymous_variant,p.Arg40=,ENST00000371477,NM_001253.4; G ENSG00000096401 ENST00000371477 Transcript synonymous_variant 238/6241 120/2409 40/802 R agA/agG rs781411018,COSV65175281 1 NA 1 CDC5L HGNC HGNC:1743 protein_coding YES CCDS4912.1 ENSP00000360532 Q99459.198 UPI000006EE42 NM_001253.4 2/16 PDB-ENSP_mappings:2dim.A,PDB-ENSP_mappings:5mqf.L,PDB-ENSP_mappings:5xjc.L,PDB-ENSP_mappings:5yzg.L,PDB-ENSP_mappings:5z56.L,PDB-ENSP_mappings:5z57.L,PDB-ENSP_mappings:5z58.L,PDB-ENSP_mappings:6ff4.L,PDB-ENSP_mappings:6ff7.L,PDB-ENSP_mappings:6icz.L,PDB-ENSP_mappings:6id0.L,PDB-ENSP_mappings:6id1.L,PDB-ENSP_mappings:6qdv.O,PROSITE_profiles:PS51294,CDD:cd00167,PANTHER:PTHR45885,Pfam:PF13921,Gene3D:1.10.10.60,SMART:SM00717,Superfamily:SSF46689 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA LOW 1 SNV 1 NA 0,1 NA NA . GAA . 560.6 3.59e-05 NA NA NA NA 4.653e-05 7.051e-05 NA NA 44390342 CDC5L 988 . GRCh38 chr6 44390348 44390348 + Silent SNP A A G NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.126A>G p.Ser42= p.S42= ENST00000371477 2/16 NA NA NA NA NA NA CDC5L,synonymous_variant,p.Ser42=,ENST00000371477,NM_001253.4; G ENSG00000096401 ENST00000371477 Transcript synonymous_variant 244/6241 126/2409 42/802 S tcA/tcG COSV65175288 1 NA 1 CDC5L HGNC HGNC:1743 protein_coding YES CCDS4912.1 ENSP00000360532 Q99459.198 UPI000006EE42 NM_001253.4 2/16 PDB-ENSP_mappings:2dim.A,PDB-ENSP_mappings:5mqf.L,PDB-ENSP_mappings:5xjc.L,PDB-ENSP_mappings:5yzg.L,PDB-ENSP_mappings:5z56.L,PDB-ENSP_mappings:5z57.L,PDB-ENSP_mappings:5z58.L,PDB-ENSP_mappings:6ff4.L,PDB-ENSP_mappings:6ff7.L,PDB-ENSP_mappings:6icz.L,PDB-ENSP_mappings:6id0.L,PDB-ENSP_mappings:6id1.L,PDB-ENSP_mappings:6qdv.O,PROSITE_profiles:PS51294,CDD:cd00167,PANTHER:PTHR45885,Pfam:PF13921,Gene3D:1.10.10.60,SMART:SM00717,Superfamily:SSF46689 NA NA NA NA NA NA NA NA NA 1 NA NA NA NA LOW 1 SNV 1 NA 1 NA NA . CAG . 493.6 NA NA NA NA NA NA NA NA NA 44390348 CDC5L 988 . GRCh38 chr6 44422707 44422707 + Silent SNP T T C novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1302T>C p.Val434= p.V434= ENST00000371477 10/16 NA NA NA NA NA NA CDC5L,synonymous_variant,p.Val434=,ENST00000371477,NM_001253.4; C ENSG00000096401 ENST00000371477 Transcript synonymous_variant 1420/6241 1302/2409 434/802 V gtT/gtC 1 NA 1 CDC5L HGNC HGNC:1743 protein_coding YES CCDS4912.1 ENSP00000360532 Q99459.198 UPI000006EE42 NM_001253.4 10/16 PDB-ENSP_mappings:5mqf.L,PDB-ENSP_mappings:5xjc.L,PDB-ENSP_mappings:5yzg.L,PDB-ENSP_mappings:5z56.L,PDB-ENSP_mappings:5z57.L,PDB-ENSP_mappings:5z58.L,PDB-ENSP_mappings:6ff4.L,PDB-ENSP_mappings:6ff7.L,PDB-ENSP_mappings:6icz.L,PDB-ENSP_mappings:6id0.L,PDB-ENSP_mappings:6id1.L,PDB-ENSP_mappings:6qdv.O,PANTHER:PTHR45885,Pfam:PF11831 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . TTA . 106.6 NA NA NA NA NA NA NA NA NA 44422707 CDC5L 988 . GRCh38 chr6 44422709 44422709 + Missense_Mutation SNP T T C novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1304T>C p.Ile435Thr p.I435T ENST00000371477 10/16 NA NA NA NA NA NA CDC5L,missense_variant,p.Ile435Thr,ENST00000371477,NM_001253.4; C ENSG00000096401 ENST00000371477 Transcript missense_variant 1422/6241 1304/2409 435/802 I/T aTt/aCt 1 NA 1 CDC5L HGNC HGNC:1743 protein_coding YES CCDS4912.1 ENSP00000360532 Q99459.198 UPI000006EE42 NM_001253.4 tolerated(0.41) benign(0.001) 10/16 PDB-ENSP_mappings:5mqf.L,PDB-ENSP_mappings:5xjc.L,PDB-ENSP_mappings:5yzg.L,PDB-ENSP_mappings:5z56.L,PDB-ENSP_mappings:5z57.L,PDB-ENSP_mappings:5z58.L,PDB-ENSP_mappings:6ff4.L,PDB-ENSP_mappings:6ff7.L,PDB-ENSP_mappings:6icz.L,PDB-ENSP_mappings:6id0.L,PDB-ENSP_mappings:6id1.L,PDB-ENSP_mappings:6qdv.O,PANTHER:PTHR45885,Pfam:PF11831 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . ATT . 99.6 NA NA NA NA NA NA NA NA NA 44422709 CDC5L 988 . GRCh38 chr6 44422713 44422713 + Silent SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1308C>T p.Asn436= p.N436= ENST00000371477 10/16 NA NA NA NA NA NA CDC5L,synonymous_variant,p.Asn436=,ENST00000371477,NM_001253.4; T ENSG00000096401 ENST00000371477 Transcript synonymous_variant 1426/6241 1308/2409 436/802 N aaC/aaT 1 NA 1 CDC5L HGNC HGNC:1743 protein_coding YES CCDS4912.1 ENSP00000360532 Q99459.198 UPI000006EE42 NM_001253.4 10/16 PDB-ENSP_mappings:5mqf.L,PDB-ENSP_mappings:5xjc.L,PDB-ENSP_mappings:5yzg.L,PDB-ENSP_mappings:5z56.L,PDB-ENSP_mappings:5z57.L,PDB-ENSP_mappings:5z58.L,PDB-ENSP_mappings:6ff4.L,PDB-ENSP_mappings:6ff7.L,PDB-ENSP_mappings:6icz.L,PDB-ENSP_mappings:6id0.L,PDB-ENSP_mappings:6id1.L,PDB-ENSP_mappings:6qdv.O,PANTHER:PTHR45885,Pfam:PF11831 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . ACT . 168.6 NA NA NA NA NA NA NA NA NA 44422713 CDC5L 988 . GRCh38 chr6 44422714 44422714 + Missense_Mutation SNP T T G novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1309T>G p.Ser437Ala p.S437A ENST00000371477 10/16 NA NA NA NA NA NA CDC5L,missense_variant,p.Ser437Ala,ENST00000371477,NM_001253.4; G ENSG00000096401 ENST00000371477 Transcript missense_variant 1427/6241 1309/2409 437/802 S/A Tct/Gct 1 NA 1 CDC5L HGNC HGNC:1743 protein_coding YES CCDS4912.1 ENSP00000360532 Q99459.198 UPI000006EE42 NM_001253.4 tolerated(0.88) benign(0) 10/16 PDB-ENSP_mappings:5mqf.L,PDB-ENSP_mappings:5xjc.L,PDB-ENSP_mappings:5yzg.L,PDB-ENSP_mappings:5z56.L,PDB-ENSP_mappings:5z57.L,PDB-ENSP_mappings:5z58.L,PDB-ENSP_mappings:6ff4.L,PDB-ENSP_mappings:6ff7.L,PDB-ENSP_mappings:6icz.L,PDB-ENSP_mappings:6id0.L,PDB-ENSP_mappings:6id1.L,PDB-ENSP_mappings:6qdv.O,PANTHER:PTHR45885,Pfam:PF11831 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CTC . 171.6 NA NA NA NA NA NA NA NA NA 44422714 CDC5L 988 . GRCh38 chr6 44422716 44422716 + Silent SNP T T C rs201615131 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1311T>C p.Ser437= p.S437= ENST00000371477 10/16 NA NA NA NA NA NA CDC5L,synonymous_variant,p.Ser437=,ENST00000371477,NM_001253.4; C ENSG00000096401 ENST00000371477 Transcript synonymous_variant 1429/6241 1311/2409 437/802 S tcT/tcC rs201615131 1 NA 1 CDC5L HGNC HGNC:1743 protein_coding YES CCDS4912.1 ENSP00000360532 Q99459.198 UPI000006EE42 NM_001253.4 10/16 PDB-ENSP_mappings:5mqf.L,PDB-ENSP_mappings:5xjc.L,PDB-ENSP_mappings:5yzg.L,PDB-ENSP_mappings:5z56.L,PDB-ENSP_mappings:5z57.L,PDB-ENSP_mappings:5z58.L,PDB-ENSP_mappings:6ff4.L,PDB-ENSP_mappings:6ff7.L,PDB-ENSP_mappings:6icz.L,PDB-ENSP_mappings:6id0.L,PDB-ENSP_mappings:6id1.L,PDB-ENSP_mappings:6qdv.O,PANTHER:PTHR45885,Pfam:PF11831 2e-04 NA NA NA 0.001 NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . CTA . 255.6 1.194e-05 NA NA NA 0.0001632 NA NA NA NA 44422716 CDC5L 988 . GRCh38 chr6 44422719 44422719 + Silent SNP T T C novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1314T>C p.Thr438= p.T438= ENST00000371477 10/16 NA NA NA NA NA NA CDC5L,synonymous_variant,p.Thr438=,ENST00000371477,NM_001253.4; C ENSG00000096401 ENST00000371477 Transcript synonymous_variant 1432/6241 1314/2409 438/802 T acT/acC 1 NA 1 CDC5L HGNC HGNC:1743 protein_coding YES CCDS4912.1 ENSP00000360532 Q99459.198 UPI000006EE42 NM_001253.4 10/16 PDB-ENSP_mappings:5mqf.L,PDB-ENSP_mappings:5xjc.L,PDB-ENSP_mappings:5yzg.L,PDB-ENSP_mappings:5z56.L,PDB-ENSP_mappings:5z57.L,PDB-ENSP_mappings:5z58.L,PDB-ENSP_mappings:6ff4.L,PDB-ENSP_mappings:6ff7.L,PDB-ENSP_mappings:6icz.L,PDB-ENSP_mappings:6id0.L,PDB-ENSP_mappings:6id1.L,PDB-ENSP_mappings:6qdv.O,PANTHER:PTHR45885,Pfam:PF11831 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . CTC . 282.6 NA NA NA NA NA NA NA NA NA 44422719 CDC5L 988 . GRCh38 chr6 44422722 44422722 + Silent SNP G G A rs778862089 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1317G>A p.Pro439= p.P439= ENST00000371477 10/16 NA NA NA NA NA NA CDC5L,synonymous_variant,p.Pro439=,ENST00000371477,NM_001253.4; A ENSG00000096401 ENST00000371477 Transcript synonymous_variant 1435/6241 1317/2409 439/802 P ccG/ccA rs778862089 1 NA 1 CDC5L HGNC HGNC:1743 protein_coding YES CCDS4912.1 ENSP00000360532 Q99459.198 UPI000006EE42 NM_001253.4 10/16 PDB-ENSP_mappings:5mqf.L,PDB-ENSP_mappings:5xjc.L,PDB-ENSP_mappings:5yzg.L,PDB-ENSP_mappings:5z56.L,PDB-ENSP_mappings:5z57.L,PDB-ENSP_mappings:5z58.L,PDB-ENSP_mappings:6ff4.L,PDB-ENSP_mappings:6ff7.L,PDB-ENSP_mappings:6icz.L,PDB-ENSP_mappings:6id0.L,PDB-ENSP_mappings:6id1.L,PDB-ENSP_mappings:6qdv.O,PANTHER:PTHR45885,Pfam:PF11831 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . CGG . 393.6 1.593e-05 NA NA NA NA NA 1.76e-05 NA 6.54e-05 44422722 CDC5L 988 . GRCh38 chr6 44422731 44422731 + Silent SNP T T A novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1326T>A p.Thr442= p.T442= ENST00000371477 10/16 NA NA NA NA NA NA CDC5L,synonymous_variant,p.Thr442=,ENST00000371477,NM_001253.4; A ENSG00000096401 ENST00000371477 Transcript synonymous_variant 1444/6241 1326/2409 442/802 T acT/acA 1 NA 1 CDC5L HGNC HGNC:1743 protein_coding YES CCDS4912.1 ENSP00000360532 Q99459.198 UPI000006EE42 NM_001253.4 10/16 PDB-ENSP_mappings:5mqf.L,PDB-ENSP_mappings:5xjc.L,PDB-ENSP_mappings:5yzg.L,PDB-ENSP_mappings:5z56.L,PDB-ENSP_mappings:5z57.L,PDB-ENSP_mappings:5z58.L,PDB-ENSP_mappings:6ff4.L,PDB-ENSP_mappings:6ff7.L,PDB-ENSP_mappings:6icz.L,PDB-ENSP_mappings:6id0.L,PDB-ENSP_mappings:6id1.L,PDB-ENSP_mappings:6qdv.O,PANTHER:PTHR45885,Pfam:PF11831 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . CTC . 699.6 NA NA NA NA NA NA NA NA NA 44422731 CDC5L 988 . GRCh38 chr6 44422734 44422734 + Silent SNP T T A novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1329T>A p.Pro443= p.P443= ENST00000371477 10/16 NA NA NA NA NA NA CDC5L,synonymous_variant,p.Pro443=,ENST00000371477,NM_001253.4; A ENSG00000096401 ENST00000371477 Transcript synonymous_variant 1447/6241 1329/2409 443/802 P ccT/ccA 1 NA 1 CDC5L HGNC HGNC:1743 protein_coding YES CCDS4912.1 ENSP00000360532 Q99459.198 UPI000006EE42 NM_001253.4 10/16 PDB-ENSP_mappings:5mqf.L,PDB-ENSP_mappings:5xjc.L,PDB-ENSP_mappings:5yzg.L,PDB-ENSP_mappings:5z56.L,PDB-ENSP_mappings:5z57.L,PDB-ENSP_mappings:5z58.L,PDB-ENSP_mappings:6ff4.L,PDB-ENSP_mappings:6ff7.L,PDB-ENSP_mappings:6icz.L,PDB-ENSP_mappings:6id0.L,PDB-ENSP_mappings:6id1.L,PDB-ENSP_mappings:6qdv.O,PANTHER:PTHR45885,Pfam:PF11831 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . CTC . 715.6 NA NA NA NA NA NA NA NA NA 44422734 CDC5L 988 . GRCh38 chr6 44422738 44422738 + Silent SNP C C A NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1333C>A p.Arg445= p.R445= ENST00000371477 10/16 NA NA NA NA NA NA CDC5L,synonymous_variant,p.Arg445=,ENST00000371477,NM_001253.4; A ENSG00000096401 ENST00000371477 Transcript synonymous_variant 1451/6241 1333/2409 445/802 R Cga/Aga COSV65175807 1 NA 1 CDC5L HGNC HGNC:1743 protein_coding YES CCDS4912.1 ENSP00000360532 Q99459.198 UPI000006EE42 NM_001253.4 10/16 PDB-ENSP_mappings:5mqf.L,PDB-ENSP_mappings:5xjc.L,PDB-ENSP_mappings:5yzg.L,PDB-ENSP_mappings:5z56.L,PDB-ENSP_mappings:5z57.L,PDB-ENSP_mappings:5z58.L,PDB-ENSP_mappings:6ff4.L,PDB-ENSP_mappings:6ff7.L,PDB-ENSP_mappings:6icz.L,PDB-ENSP_mappings:6id0.L,PDB-ENSP_mappings:6id1.L,PDB-ENSP_mappings:6qdv.O,PANTHER:PTHR45885,Pfam:PF11831 NA NA NA NA NA NA NA NA NA 1 NA NA NA NA LOW 1 SNV 1 NA 1 NA NA . TCG . 780.6 NA NA NA NA NA NA NA NA NA 44422738 CDC5L 988 . GRCh38 chr6 44422761 44422761 + Silent SNP C C A novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1356C>A p.Pro452= p.P452= ENST00000371477 10/16 NA NA NA NA NA NA CDC5L,synonymous_variant,p.Pro452=,ENST00000371477,NM_001253.4; A ENSG00000096401 ENST00000371477 Transcript synonymous_variant 1474/6241 1356/2409 452/802 P ccC/ccA 1 NA 1 CDC5L HGNC HGNC:1743 protein_coding YES CCDS4912.1 ENSP00000360532 Q99459.198 UPI000006EE42 NM_001253.4 10/16 PDB-ENSP_mappings:5mqf.L,PDB-ENSP_mappings:5xjc.L,PDB-ENSP_mappings:5yzg.L,PDB-ENSP_mappings:5z56.L,PDB-ENSP_mappings:5z57.L,PDB-ENSP_mappings:5z58.L,PDB-ENSP_mappings:6ff4.L,PDB-ENSP_mappings:6ff7.L,PDB-ENSP_mappings:6icz.L,PDB-ENSP_mappings:6id0.L,PDB-ENSP_mappings:6id1.L,PDB-ENSP_mappings:6qdv.O,PANTHER:PTHR45885,Pfam:PF11831 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . CCG . 39.6 NA NA NA NA NA NA NA NA NA 44422761 CDC5L 988 . GRCh38 chr6 44422782 44422782 + Silent SNP T T C novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1377T>C p.Tyr459= p.Y459= ENST00000371477 10/16 NA NA NA NA NA NA CDC5L,synonymous_variant,p.Tyr459=,ENST00000371477,NM_001253.4; C ENSG00000096401 ENST00000371477 Transcript synonymous_variant 1495/6241 1377/2409 459/802 Y taT/taC 1 NA 1 CDC5L HGNC HGNC:1743 protein_coding YES CCDS4912.1 ENSP00000360532 Q99459.198 UPI000006EE42 NM_001253.4 10/16 PDB-ENSP_mappings:5mqf.L,PDB-ENSP_mappings:5xjc.L,PDB-ENSP_mappings:5yzg.L,PDB-ENSP_mappings:5z56.L,PDB-ENSP_mappings:5z57.L,PDB-ENSP_mappings:5z58.L,PDB-ENSP_mappings:6ff4.L,PDB-ENSP_mappings:6ff7.L,PDB-ENSP_mappings:6icz.L,PDB-ENSP_mappings:6id0.L,PDB-ENSP_mappings:6id1.L,PDB-ENSP_mappings:6qdv.O,PANTHER:PTHR45885,Pfam:PF11831 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . ATA . 994.6 NA NA NA NA NA NA NA NA NA 44422782 CDC5L 988 . GRCh38 chr6 44422788 44422788 + Silent SNP T T C novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1383T>C p.Asp461= p.D461= ENST00000371477 10/16 NA NA NA NA NA NA CDC5L,synonymous_variant,p.Asp461=,ENST00000371477,NM_001253.4; C ENSG00000096401 ENST00000371477 Transcript synonymous_variant 1501/6241 1383/2409 461/802 D gaT/gaC 1 NA 1 CDC5L HGNC HGNC:1743 protein_coding YES CCDS4912.1 ENSP00000360532 Q99459.198 UPI000006EE42 NM_001253.4 10/16 PDB-ENSP_mappings:5mqf.L,PDB-ENSP_mappings:5xjc.L,PDB-ENSP_mappings:5yzg.L,PDB-ENSP_mappings:5z56.L,PDB-ENSP_mappings:5z57.L,PDB-ENSP_mappings:5z58.L,PDB-ENSP_mappings:6ff4.L,PDB-ENSP_mappings:6ff7.L,PDB-ENSP_mappings:6icz.L,PDB-ENSP_mappings:6id0.L,PDB-ENSP_mappings:6id1.L,PDB-ENSP_mappings:6qdv.O,PANTHER:PTHR45885,Pfam:PF11831 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . ATC . 958.6 NA NA NA NA NA NA NA NA NA 44422788 CDC5L 988 . GRCh38 chr6 44424544 44424544 + Silent SNP T T C novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1530T>C p.Thr510= p.T510= ENST00000371477 11/16 NA NA NA NA NA NA CDC5L,synonymous_variant,p.Thr510=,ENST00000371477,NM_001253.4; C ENSG00000096401 ENST00000371477 Transcript synonymous_variant 1648/6241 1530/2409 510/802 T acT/acC 1 NA 1 CDC5L HGNC HGNC:1743 protein_coding YES CCDS4912.1 ENSP00000360532 Q99459.198 UPI000006EE42 NM_001253.4 11/16 PDB-ENSP_mappings:5mqf.L,PDB-ENSP_mappings:5xjc.L,PDB-ENSP_mappings:5yzg.L,PDB-ENSP_mappings:5z56.L,PDB-ENSP_mappings:5z57.L,PDB-ENSP_mappings:5z58.L,PDB-ENSP_mappings:6ff4.L,PDB-ENSP_mappings:6ff7.L,PDB-ENSP_mappings:6icz.L,PDB-ENSP_mappings:6id0.L,PDB-ENSP_mappings:6id1.L,PDB-ENSP_mappings:6qdv.O,PANTHER:PTHR45885,Pfam:PF11831 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . CTT . 59.6 NA NA NA NA NA NA NA NA NA 44424544 CDC5L 988 . GRCh38 chr6 44426108 44426108 + Silent SNP A A C novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1575A>C p.Ile525= p.I525= ENST00000371477 12/16 NA NA NA NA NA NA CDC5L,synonymous_variant,p.Ile525=,ENST00000371477,NM_001253.4; C ENSG00000096401 ENST00000371477 Transcript synonymous_variant 1693/6241 1575/2409 525/802 I atA/atC 1 NA 1 CDC5L HGNC HGNC:1743 protein_coding YES CCDS4912.1 ENSP00000360532 Q99459.198 UPI000006EE42 NM_001253.4 12/16 PDB-ENSP_mappings:5mqf.L,PDB-ENSP_mappings:5xjc.L,PDB-ENSP_mappings:5yzg.L,PDB-ENSP_mappings:5z56.L,PDB-ENSP_mappings:5z57.L,PDB-ENSP_mappings:5z58.L,PDB-ENSP_mappings:6ff4.L,PDB-ENSP_mappings:6ff7.L,PDB-ENSP_mappings:6icz.L,PDB-ENSP_mappings:6id0.L,PDB-ENSP_mappings:6id1.L,PDB-ENSP_mappings:6qdv.O,PANTHER:PTHR45885,Pfam:PF11831 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . TAC . 221.6 NA NA NA NA NA NA NA NA NA 44426108 CDC5L 988 . GRCh38 chr6 44426117 44426117 + Silent SNP A A T novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1584A>T p.Ala528= p.A528= ENST00000371477 12/16 NA NA NA NA NA NA CDC5L,synonymous_variant,p.Ala528=,ENST00000371477,NM_001253.4; T ENSG00000096401 ENST00000371477 Transcript synonymous_variant 1702/6241 1584/2409 528/802 A gcA/gcT 1 NA 1 CDC5L HGNC HGNC:1743 protein_coding YES CCDS4912.1 ENSP00000360532 Q99459.198 UPI000006EE42 NM_001253.4 12/16 PDB-ENSP_mappings:5mqf.L,PDB-ENSP_mappings:5xjc.L,PDB-ENSP_mappings:5yzg.L,PDB-ENSP_mappings:5z56.L,PDB-ENSP_mappings:5z57.L,PDB-ENSP_mappings:5z58.L,PDB-ENSP_mappings:6ff4.L,PDB-ENSP_mappings:6ff7.L,PDB-ENSP_mappings:6icz.L,PDB-ENSP_mappings:6id0.L,PDB-ENSP_mappings:6id1.L,PDB-ENSP_mappings:6qdv.O,PANTHER:PTHR45885,Pfam:PF11831 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . CAG . 188.6 NA NA NA NA NA NA NA NA NA 44426117 CDC5L 988 . GRCh38 chr6 44426147 44426147 + Silent SNP T T C novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1614T>C p.His538= p.H538= ENST00000371477 12/16 NA NA NA NA NA NA CDC5L,synonymous_variant,p.His538=,ENST00000371477,NM_001253.4; C ENSG00000096401 ENST00000371477 Transcript synonymous_variant 1732/6241 1614/2409 538/802 H caT/caC 1 NA 1 CDC5L HGNC HGNC:1743 protein_coding YES CCDS4912.1 ENSP00000360532 Q99459.198 UPI000006EE42 NM_001253.4 12/16 PDB-ENSP_mappings:5mqf.L,PDB-ENSP_mappings:5xjc.L,PDB-ENSP_mappings:5yzg.L,PDB-ENSP_mappings:5z56.L,PDB-ENSP_mappings:5z57.L,PDB-ENSP_mappings:5z58.L,PDB-ENSP_mappings:6ff4.L,PDB-ENSP_mappings:6ff7.L,PDB-ENSP_mappings:6icz.L,PDB-ENSP_mappings:6id0.L,PDB-ENSP_mappings:6id1.L,PDB-ENSP_mappings:6qdv.O,PANTHER:PTHR45885,Pfam:PF11831 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . ATA . 160.6 NA NA NA NA NA NA NA NA NA 44426147 CDC5L 988 . GRCh38 chr6 44426153 44426153 + Silent SNP T T C novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1620T>C p.Ala540= p.A540= ENST00000371477 12/16 NA NA NA NA NA NA CDC5L,synonymous_variant,p.Ala540=,ENST00000371477,NM_001253.4; C ENSG00000096401 ENST00000371477 Transcript synonymous_variant 1738/6241 1620/2409 540/802 A gcT/gcC 1 NA 1 CDC5L HGNC HGNC:1743 protein_coding YES CCDS4912.1 ENSP00000360532 Q99459.198 UPI000006EE42 NM_001253.4 12/16 PDB-ENSP_mappings:5mqf.L,PDB-ENSP_mappings:5xjc.L,PDB-ENSP_mappings:5yzg.L,PDB-ENSP_mappings:5z56.L,PDB-ENSP_mappings:5z57.L,PDB-ENSP_mappings:5z58.L,PDB-ENSP_mappings:6ff4.L,PDB-ENSP_mappings:6ff7.L,PDB-ENSP_mappings:6icz.L,PDB-ENSP_mappings:6id0.L,PDB-ENSP_mappings:6id1.L,PDB-ENSP_mappings:6qdv.O,PANTHER:PTHR45885,Pfam:PF11831 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . CTG . 44.6 NA NA NA NA NA NA NA NA NA 44426153 CDC5L 988 . GRCh38 chr6 44426156 44426156 + Silent SNP C C T NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1623C>T p.Val541= p.V541= ENST00000371477 12/16 NA NA NA NA NA NA CDC5L,synonymous_variant,p.Val541=,ENST00000371477,NM_001253.4; T ENSG00000096401 ENST00000371477 Transcript synonymous_variant 1741/6241 1623/2409 541/802 V gtC/gtT COSV104424028 1 NA 1 CDC5L HGNC HGNC:1743 protein_coding YES CCDS4912.1 ENSP00000360532 Q99459.198 UPI000006EE42 NM_001253.4 12/16 PDB-ENSP_mappings:5mqf.L,PDB-ENSP_mappings:5xjc.L,PDB-ENSP_mappings:5yzg.L,PDB-ENSP_mappings:5z56.L,PDB-ENSP_mappings:5z57.L,PDB-ENSP_mappings:5z58.L,PDB-ENSP_mappings:6ff4.L,PDB-ENSP_mappings:6ff7.L,PDB-ENSP_mappings:6icz.L,PDB-ENSP_mappings:6id0.L,PDB-ENSP_mappings:6id1.L,PDB-ENSP_mappings:6qdv.O,PANTHER:PTHR45885,Pfam:PF11831 NA NA NA NA NA NA NA NA NA 1 NA NA NA NA LOW 1 SNV 1 NA 1 NA NA . TCC . 38.6 NA NA NA NA NA NA NA NA NA 44426156 CDC5L 988 . GRCh38 chr6 44426162 44426162 + Silent SNP A A G NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1629A>G p.Lys543= p.K543= ENST00000371477 12/16 NA NA NA NA NA NA CDC5L,synonymous_variant,p.Lys543=,ENST00000371477,NM_001253.4; G ENSG00000096401 ENST00000371477 Transcript synonymous_variant 1747/6241 1629/2409 543/802 K aaA/aaG COSV65175214 1 NA 1 CDC5L HGNC HGNC:1743 protein_coding YES CCDS4912.1 ENSP00000360532 Q99459.198 UPI000006EE42 NM_001253.4 12/16 PDB-ENSP_mappings:5mqf.L,PDB-ENSP_mappings:5xjc.L,PDB-ENSP_mappings:5yzg.L,PDB-ENSP_mappings:5z56.L,PDB-ENSP_mappings:5z57.L,PDB-ENSP_mappings:5z58.L,PDB-ENSP_mappings:6ff4.L,PDB-ENSP_mappings:6ff7.L,PDB-ENSP_mappings:6icz.L,PDB-ENSP_mappings:6id0.L,PDB-ENSP_mappings:6id1.L,PDB-ENSP_mappings:6qdv.O,PANTHER:PTHR45885,Pfam:PF11831 NA NA NA NA NA NA NA NA NA 1 NA NA NA NA LOW 1 SNV 1 NA 1 NA NA . AAG . 47.6 NA NA NA NA NA NA NA NA NA 44426162 CDC5L 988 . GRCh38 chr6 44429853 44429853 + Silent SNP A A T novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2034A>T p.Thr678= p.T678= ENST00000371477 14/16 NA NA NA NA NA NA CDC5L,synonymous_variant,p.Thr678=,ENST00000371477,NM_001253.4;,regulatory_region_variant,,ENSR00001110695,; T ENSG00000096401 ENST00000371477 Transcript synonymous_variant 2152/6241 2034/2409 678/802 T acA/acT 1 NA 1 CDC5L HGNC HGNC:1743 protein_coding YES CCDS4912.1 ENSP00000360532 Q99459.198 UPI000006EE42 NM_001253.4 14/16 PDB-ENSP_mappings:5mqf.L,PDB-ENSP_mappings:5xjc.L,PDB-ENSP_mappings:5yzg.L,PDB-ENSP_mappings:5z56.L,PDB-ENSP_mappings:5z57.L,PDB-ENSP_mappings:5z58.L,PDB-ENSP_mappings:6ff4.L,PDB-ENSP_mappings:6ff7.L,PDB-ENSP_mappings:6icz.L,PDB-ENSP_mappings:6id0.L,PDB-ENSP_mappings:6id1.L,PDB-ENSP_mappings:6qdv.O,PANTHER:PTHR45885 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . CAC . 43.6 NA NA NA NA NA NA NA NA NA 44429853 CDC5L 988 . GRCh38 chr6 44429856 44429856 + Silent SNP G G C novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2037G>C p.Arg679= p.R679= ENST00000371477 14/16 NA NA NA NA NA NA CDC5L,synonymous_variant,p.Arg679=,ENST00000371477,NM_001253.4;,regulatory_region_variant,,ENSR00001110695,; C ENSG00000096401 ENST00000371477 Transcript synonymous_variant 2155/6241 2037/2409 679/802 R cgG/cgC 1 NA 1 CDC5L HGNC HGNC:1743 protein_coding YES CCDS4912.1 ENSP00000360532 Q99459.198 UPI000006EE42 NM_001253.4 14/16 PDB-ENSP_mappings:5mqf.L,PDB-ENSP_mappings:5xjc.L,PDB-ENSP_mappings:5yzg.L,PDB-ENSP_mappings:5z56.L,PDB-ENSP_mappings:5z57.L,PDB-ENSP_mappings:5z58.L,PDB-ENSP_mappings:6ff4.L,PDB-ENSP_mappings:6ff7.L,PDB-ENSP_mappings:6icz.L,PDB-ENSP_mappings:6id0.L,PDB-ENSP_mappings:6id1.L,PDB-ENSP_mappings:6qdv.O,PANTHER:PTHR45885 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . GGG . 127.6 NA NA NA NA NA NA NA NA NA 44429856 CDC5L 988 . GRCh38 chr6 44429859 44429859 + Silent SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2040C>T p.Ala680= p.A680= ENST00000371477 14/16 NA NA NA NA NA NA CDC5L,synonymous_variant,p.Ala680=,ENST00000371477,NM_001253.4;,regulatory_region_variant,,ENSR00001110695,; T ENSG00000096401 ENST00000371477 Transcript synonymous_variant 2158/6241 2040/2409 680/802 A gcC/gcT 1 NA 1 CDC5L HGNC HGNC:1743 protein_coding YES CCDS4912.1 ENSP00000360532 Q99459.198 UPI000006EE42 NM_001253.4 14/16 PDB-ENSP_mappings:5mqf.L,PDB-ENSP_mappings:5xjc.L,PDB-ENSP_mappings:5yzg.L,PDB-ENSP_mappings:5z56.L,PDB-ENSP_mappings:5z57.L,PDB-ENSP_mappings:5z58.L,PDB-ENSP_mappings:6ff4.L,PDB-ENSP_mappings:6ff7.L,PDB-ENSP_mappings:6icz.L,PDB-ENSP_mappings:6id0.L,PDB-ENSP_mappings:6id1.L,PDB-ENSP_mappings:6qdv.O,PANTHER:PTHR45885 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . CCA . 130.6 NA NA NA NA NA NA NA NA NA 44429859 CDC5L 988 . GRCh38 chr6 44429865 44429865 + Silent SNP G G T novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2046G>T p.Leu682= p.L682= ENST00000371477 14/16 NA NA NA NA NA NA CDC5L,synonymous_variant,p.Leu682=,ENST00000371477,NM_001253.4;,regulatory_region_variant,,ENSR00001110695,; T ENSG00000096401 ENST00000371477 Transcript synonymous_variant 2164/6241 2046/2409 682/802 L ctG/ctT 1 NA 1 CDC5L HGNC HGNC:1743 protein_coding YES CCDS4912.1 ENSP00000360532 Q99459.198 UPI000006EE42 NM_001253.4 14/16 PDB-ENSP_mappings:5mqf.L,PDB-ENSP_mappings:5xjc.L,PDB-ENSP_mappings:5yzg.L,PDB-ENSP_mappings:5z56.L,PDB-ENSP_mappings:5z57.L,PDB-ENSP_mappings:5z58.L,PDB-ENSP_mappings:6ff4.L,PDB-ENSP_mappings:6ff7.L,PDB-ENSP_mappings:6icz.L,PDB-ENSP_mappings:6id0.L,PDB-ENSP_mappings:6id1.L,PDB-ENSP_mappings:6qdv.O,PANTHER:PTHR45885 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . TGG . 220.6 NA NA NA NA NA NA NA NA NA 44429865 CDC5L 988 . GRCh38 chr6 44429871 44429871 + Silent SNP T T C novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2052T>C p.Ser684= p.S684= ENST00000371477 14/16 NA NA NA NA NA NA CDC5L,synonymous_variant,p.Ser684=,ENST00000371477,NM_001253.4;,regulatory_region_variant,,ENSR00001110695,; C ENSG00000096401 ENST00000371477 Transcript synonymous_variant 2170/6241 2052/2409 684/802 S agT/agC 1 NA 1 CDC5L HGNC HGNC:1743 protein_coding YES CCDS4912.1 ENSP00000360532 Q99459.198 UPI000006EE42 NM_001253.4 14/16 PDB-ENSP_mappings:5mqf.L,PDB-ENSP_mappings:5xjc.L,PDB-ENSP_mappings:5yzg.L,PDB-ENSP_mappings:5z56.L,PDB-ENSP_mappings:5z57.L,PDB-ENSP_mappings:5z58.L,PDB-ENSP_mappings:6ff4.L,PDB-ENSP_mappings:6ff7.L,PDB-ENSP_mappings:6icz.L,PDB-ENSP_mappings:6id0.L,PDB-ENSP_mappings:6id1.L,PDB-ENSP_mappings:6qdv.O,PANTHER:PTHR45885 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . GTA . 299.6 NA NA NA NA NA NA NA NA NA 44429871 CDC5L 988 . GRCh38 chr6 44445675 44445675 + Silent SNP G G A rs755280763 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2112G>A p.Thr704= p.T704= ENST00000371477 15/16 NA NA NA NA NA NA CDC5L,synonymous_variant,p.Thr704=,ENST00000371477,NM_001253.4; A ENSG00000096401 ENST00000371477 Transcript synonymous_variant 2230/6241 2112/2409 704/802 T acG/acA rs755280763,COSV65176307 1 NA 1 CDC5L HGNC HGNC:1743 protein_coding YES CCDS4912.1 ENSP00000360532 Q99459.198 UPI000006EE42 NM_001253.4 15/16 PDB-ENSP_mappings:5mqf.L,PDB-ENSP_mappings:5xjc.L,PDB-ENSP_mappings:5yzg.L,PDB-ENSP_mappings:5z56.L,PDB-ENSP_mappings:5z57.L,PDB-ENSP_mappings:5z58.L,PDB-ENSP_mappings:6ff4.L,PDB-ENSP_mappings:6ff7.L,PDB-ENSP_mappings:6icz.L,PDB-ENSP_mappings:6id0.L,PDB-ENSP_mappings:6id1.L,PDB-ENSP_mappings:6qdv.O,PANTHER:PTHR45885 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA LOW 1 SNV 1 NA 0,1 NA NA . CGA . 369.6 7.973e-06 6.152e-05 NA NA NA NA 8.821e-06 NA NA 44445675 CDC5L 988 . GRCh38 chr6 44445690 44445690 + Silent SNP G G A NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2127G>A p.Arg709= p.R709= ENST00000371477 15/16 NA NA NA NA NA NA CDC5L,synonymous_variant,p.Arg709=,ENST00000371477,NM_001253.4; A ENSG00000096401 ENST00000371477 Transcript synonymous_variant 2245/6241 2127/2409 709/802 R agG/agA COSV65175180 1 NA 1 CDC5L HGNC HGNC:1743 protein_coding YES CCDS4912.1 ENSP00000360532 Q99459.198 UPI000006EE42 NM_001253.4 15/16 PDB-ENSP_mappings:5mqf.L,PDB-ENSP_mappings:5xjc.L,PDB-ENSP_mappings:5yzg.L,PDB-ENSP_mappings:5z56.L,PDB-ENSP_mappings:5z57.L,PDB-ENSP_mappings:5z58.L,PDB-ENSP_mappings:6ff4.L,PDB-ENSP_mappings:6ff7.L,PDB-ENSP_mappings:6icz.L,PDB-ENSP_mappings:6id0.L,PDB-ENSP_mappings:6id1.L,PDB-ENSP_mappings:6qdv.O,Low_complexity_(Seg):seg,PANTHER:PTHR45885 NA NA NA NA NA NA NA NA NA 1 NA NA NA NA LOW 1 SNV 1 NA 1 NA NA . GGG . 454.6 NA NA NA NA NA NA NA NA NA 44445690 CDC5L 988 . GRCh38 chr6 44445717 44445717 + Silent SNP A A G NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2154A>G p.Lys718= p.K718= ENST00000371477 15/16 NA NA NA NA NA NA CDC5L,synonymous_variant,p.Lys718=,ENST00000371477,NM_001253.4; G ENSG00000096401 ENST00000371477 Transcript synonymous_variant 2272/6241 2154/2409 718/802 K aaA/aaG COSV65175186 1 NA 1 CDC5L HGNC HGNC:1743 protein_coding YES CCDS4912.1 ENSP00000360532 Q99459.198 UPI000006EE42 NM_001253.4 15/16 PDB-ENSP_mappings:5mqf.L,PDB-ENSP_mappings:5xjc.L,PDB-ENSP_mappings:5yzg.L,PDB-ENSP_mappings:5z56.L,PDB-ENSP_mappings:5z57.L,PDB-ENSP_mappings:5z58.L,PDB-ENSP_mappings:6ff4.L,PDB-ENSP_mappings:6ff7.L,PDB-ENSP_mappings:6icz.L,PDB-ENSP_mappings:6id0.L,PDB-ENSP_mappings:6id1.L,PDB-ENSP_mappings:6qdv.O,Low_complexity_(Seg):seg,PANTHER:PTHR45885 NA NA NA NA NA NA NA NA NA 1 NA NA NA NA LOW 1 SNV 1 NA 1 NA NA . AAA . 335.6 NA NA NA NA NA NA NA NA NA 44445717 CDC5L 988 . GRCh38 chr6 44445729 44445729 + Silent SNP G G T novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2166G>T p.Gly722= p.G722= ENST00000371477 15/16 NA NA NA NA NA NA CDC5L,synonymous_variant,p.Gly722=,ENST00000371477,NM_001253.4; T ENSG00000096401 ENST00000371477 Transcript synonymous_variant 2284/6241 2166/2409 722/802 G ggG/ggT 1 NA 1 CDC5L HGNC HGNC:1743 protein_coding YES CCDS4912.1 ENSP00000360532 Q99459.198 UPI000006EE42 NM_001253.4 15/16 PDB-ENSP_mappings:5mqf.L,PDB-ENSP_mappings:5xjc.L,PDB-ENSP_mappings:5yzg.L,PDB-ENSP_mappings:5z56.L,PDB-ENSP_mappings:5z57.L,PDB-ENSP_mappings:5z58.L,PDB-ENSP_mappings:6ff4.L,PDB-ENSP_mappings:6ff7.L,PDB-ENSP_mappings:6icz.L,PDB-ENSP_mappings:6id0.L,PDB-ENSP_mappings:6id1.L,PDB-ENSP_mappings:6qdv.O,PANTHER:PTHR45885 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . GGG . 349.6 NA NA NA NA NA NA NA NA NA 44445729 CDC5L 988 . GRCh38 chr6 44445786 44445786 + Silent SNP A A G novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2223A>G p.Gln741= p.Q741= ENST00000371477 15/16 NA NA NA NA NA NA CDC5L,synonymous_variant,p.Gln741=,ENST00000371477,NM_001253.4; G ENSG00000096401 ENST00000371477 Transcript synonymous_variant 2341/6241 2223/2409 741/802 Q caA/caG 1 NA 1 CDC5L HGNC HGNC:1743 protein_coding YES CCDS4912.1 ENSP00000360532 Q99459.198 UPI000006EE42 NM_001253.4 15/16 PDB-ENSP_mappings:5mqf.L,PDB-ENSP_mappings:5xjc.L,PDB-ENSP_mappings:5yzg.L,PDB-ENSP_mappings:5z56.L,PDB-ENSP_mappings:5z57.L,PDB-ENSP_mappings:5z58.L,PDB-ENSP_mappings:6ff4.L,PDB-ENSP_mappings:6ff7.L,PDB-ENSP_mappings:6icz.L,PDB-ENSP_mappings:6id0.L,PDB-ENSP_mappings:6id1.L,PDB-ENSP_mappings:6qdv.O,PANTHER:PTHR45885 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . AAA . 424.6 NA NA NA NA NA NA NA NA NA 44445786 CDC5L 988 . GRCh38 chr6 44445792 44445792 + Silent SNP A A G NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2229A>G p.Glu743= p.E743= ENST00000371477 15/16 NA NA NA NA NA NA CDC5L,synonymous_variant,p.Glu743=,ENST00000371477,NM_001253.4; G ENSG00000096401 ENST00000371477 Transcript synonymous_variant 2347/6241 2229/2409 743/802 E gaA/gaG COSV65175201 1 NA 1 CDC5L HGNC HGNC:1743 protein_coding YES CCDS4912.1 ENSP00000360532 Q99459.198 UPI000006EE42 NM_001253.4 15/16 PDB-ENSP_mappings:5mqf.L,PDB-ENSP_mappings:5xjc.L,PDB-ENSP_mappings:5yzg.L,PDB-ENSP_mappings:5z56.L,PDB-ENSP_mappings:5z57.L,PDB-ENSP_mappings:5z58.L,PDB-ENSP_mappings:6ff4.L,PDB-ENSP_mappings:6ff7.L,PDB-ENSP_mappings:6icz.L,PDB-ENSP_mappings:6id0.L,PDB-ENSP_mappings:6id1.L,PDB-ENSP_mappings:6qdv.O,PANTHER:PTHR45885 NA NA NA NA NA NA NA NA NA 1 NA NA NA NA LOW 1 SNV 1 NA 1 NA NA . AAC . 406.6 NA NA NA NA NA NA NA NA NA 44445792 CDC5L 988 . GRCh38 chr6 44445808 44445808 + Silent SNP T T C novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2245T>C p.Leu749= p.L749= ENST00000371477 15/16 NA NA NA NA NA NA CDC5L,synonymous_variant,p.Leu749=,ENST00000371477,NM_001253.4; C ENSG00000096401 ENST00000371477 Transcript synonymous_variant 2363/6241 2245/2409 749/802 L Tta/Cta 1 NA 1 CDC5L HGNC HGNC:1743 protein_coding YES CCDS4912.1 ENSP00000360532 Q99459.198 UPI000006EE42 NM_001253.4 15/16 PDB-ENSP_mappings:5mqf.L,PDB-ENSP_mappings:5xjc.L,PDB-ENSP_mappings:5yzg.L,PDB-ENSP_mappings:5z56.L,PDB-ENSP_mappings:5z57.L,PDB-ENSP_mappings:5z58.L,PDB-ENSP_mappings:6ff4.L,PDB-ENSP_mappings:6ff7.L,PDB-ENSP_mappings:6icz.L,PDB-ENSP_mappings:6id0.L,PDB-ENSP_mappings:6id1.L,PDB-ENSP_mappings:6qdv.O,PANTHER:PTHR45885 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . GTT . 295.6 NA NA NA NA NA NA NA NA NA 44445808 TDRD6 221400 . GRCh38 chr6 46692678 46692678 + Frame_Shift_Del DEL A A - rs145334816 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4558del p.Met1520Ter p.M1520* ENST00000316081 1/4 NA NA NA NA NA NA TDRD6,frameshift_variant,p.Met1520Ter,ENST00000316081,NM_001010870.3;TDRD6,frameshift_variant,p.Met1520Ter,ENST00000544460,NM_001168359.1;TDRD6,upstream_gene_variant,,ENST00000450697,;AL591242.1,upstream_gene_variant,,ENST00000422284,;AL591242.1,upstream_gene_variant,,ENST00000434329,;AL591242.1,upstream_gene_variant,,ENST00000571590,; - ENSG00000180113 ENST00000316081 Transcript frameshift_variant 4794/8967 4550/6291 1517/2096 E/X gAa/ga rs145334816,COSV60176047 1 NA 1 TDRD6 HGNC HGNC:21339 protein_coding YES CCDS34470.1 ENSP00000346065 O60522.163 UPI0000251E8A NM_001010870.3 1/4 Pfam:PF00567,PANTHER:PTHR22948,PANTHER:PTHR22948:SF15 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA HIGH 1 deletion 1 8 0,1 NA NA . AGAA . 8033.03 5.032e-05 0.0001349 NA NA NA NA 6.943e-05 NA 7.815e-05 46692677 MLIP 90523 . GRCh38 chr6 54137381 54137381 + Missense_Mutation SNP A A G rs555351598 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1312A>G p.Thr438Ala p.T438A ENST00000502396 4/14 NA NA NA NA NA NA MLIP,missense_variant,p.Thr427Ala,ENST00000514921,NM_001281746.2;MLIP,missense_variant,p.Thr438Ala,ENST00000502396,NM_001281747.2;MLIP,missense_variant,p.Thr386Ala,ENST00000503951,;MLIP,intron_variant,,ENST00000274897,NM_138569.2;MLIP,intron_variant,,ENST00000370876,;MLIP,intron_variant,,ENST00000370877,;MLIP,intron_variant,,ENST00000447836,;MLIP,intron_variant,,ENST00000509997,;MLIP,intron_variant,,ENST00000514433,;MLIP,downstream_gene_variant,,ENST00000511678,;MLIP,non_coding_transcript_exon_variant,,ENST00000511744,; G ENSG00000146147 ENST00000502396 Transcript missense_variant 1349/3344 1312/2982 438/993 T/A Acc/Gcc rs555351598 1 NA 1 MLIP HGNC HGNC:21355 protein_coding YES CCDS64449.1 ENSP00000426290 Q5VWP3.116 UPI0001D3BBBE NM_001281747.2 deleterious(0.01) probably_damaging(0.996) 4/14 PANTHER:PTHR31514 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 2 NA NA NA . CAC . 1507.6 0.0001563 NA 0.0001635 0.0001207 NA 0.0001858 0.0002663 0.0002412 NA 54137381 DST 667 . GRCh38 chr6 56472135 56472135 + Missense_Mutation SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.21122G>A p.Ser7041Asn p.S7041N ENST00000361203 89/98 NA NA NA NA NA NA DST,missense_variant,p.Ser7041Asn,ENST00000361203,NM_001374722.1,NM_001374736.1,NM_001374734.1,NM_001374729.1;DST,missense_variant,p.Ser5064Asn,ENST00000421834,NM_183380.4;DST,missense_variant,p.Ser5104Asn,ENST00000312431,NM_001144769.5,NM_001144770.2;DST,missense_variant,p.Ser4955Asn,ENST00000370788,NM_001374730.1;DST,missense_variant,p.Ser4738Asn,ENST00000244364,NM_015548.5;DST,missense_variant,p.Ser2256Asn,ENST00000340834,;DST,missense_variant,p.Ser933Asn,ENST00000651790,;DST,missense_variant,p.Ser198Asn,ENST00000651289,;DST,missense_variant,p.Ser69Asn,ENST00000523943,;DST,upstream_gene_variant,,ENST00000523292,;DST,non_coding_transcript_exon_variant,,ENST00000651941,;DST,upstream_gene_variant,,ENST00000482156,;DST,downstream_gene_variant,,ENST00000492944,;DST,downstream_gene_variant,,ENST00000517840,;DST,upstream_gene_variant,,ENST00000651457,; T ENSG00000151914 ENST00000361203 Transcript missense_variant 21130/22431 21122/22386 7041/7461 S/N aGc/aAc 1 NA -1 DST HGNC HGNC:1090 protein_coding YES ENSP00000354508 F8W9J4.75 UPI0001E8F797 NM_001374722.1,NM_001374736.1,NM_001374734.1,NM_001374729.1 deleterious(0) probably_damaging(0.92) 89/98 Gene3D:1.20.58.60,PANTHER:PTHR23169,PANTHER:PTHR23169:SF24,SMART:SM00150,Superfamily:SSF46966 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA 1 . GCT . 3865.6 NA NA NA NA NA NA NA NA NA 56472135 BEND6 221336 . GRCh38 chr6 57015180 57015180 + Missense_Mutation SNP G G A rs368001280 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.346G>A p.Glu116Lys p.E116K ENST00000370746 4/7 NA NA NA NA NA NA BEND6,missense_variant,p.Glu116Lys,ENST00000370746,NM_152731.3;BEND6,downstream_gene_variant,,ENST00000370745,;BEND6,downstream_gene_variant,,ENST00000370748,NM_001318539.1;BEND6,non_coding_transcript_exon_variant,,ENST00000484701,; A ENSG00000151917 ENST00000370746 Transcript missense_variant 800/2568 346/840 116/279 E/K Gag/Aag rs368001280 1 NA 1 BEND6 HGNC HGNC:20871 protein_coding YES CCDS43476.1 ENSP00000359782 Q5SZJ8.105 UPI000020DF34 NM_152731.3 deleterious_low_confidence(0) possibly_damaging(0.771) 4/7 PANTHER:PTHR35346 NA NA NA NA NA NA NA NA 0.0001208 NA NA NA NA MODERATE 1 SNV 5 NA NA NA . CGA . 206.6 2.805e-05 NA 0.0001738 NA NA NA NA NA 3.268e-05 57015180 ZNF451 26036 . GRCh38 chr6 57148369 57148369 + Missense_Mutation SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2284G>A p.Ala762Thr p.A762T ENST00000370706 10/15 NA NA NA NA NA NA ZNF451,missense_variant,p.Ala762Thr,ENST00000370706,NM_001031623.3;ZNF451,missense_variant,p.Ala762Thr,ENST00000357489,NM_015555.2;ZNF451,missense_variant,p.Ala762Thr,ENST00000491832,;ZNF451-AS1,intron_variant,,ENST00000416069,;ZNF451-AS1,intron_variant,,ENST00000585792,;ZNF451-AS1,intron_variant,,ENST00000586053,;ZNF451-AS1,intron_variant,,ENST00000586432,;ZNF451-AS1,intron_variant,,ENST00000586668,;ZNF451-AS1,intron_variant,,ENST00000587815,;ZNF451-AS1,intron_variant,,ENST00000588811,;ZNF451-AS1,intron_variant,,ENST00000589549,;ZNF451-AS1,intron_variant,,ENST00000591553,;ZNF451-AS1,intron_variant,,ENST00000592038,;ZNF451-AS1,intron_variant,,ENST00000592500,;ZNF451-AS1,intron_variant,,ENST00000648959,;ZNF451-AS1,downstream_gene_variant,,ENST00000586466,;ZNF451-AS1,downstream_gene_variant,,ENST00000589263,;ZNF451,non_coding_transcript_exon_variant,,ENST00000444273,;ZNF451,intron_variant,,ENST00000504603,;ZNF451,upstream_gene_variant,,ENST00000508548,; A ENSG00000112200 ENST00000370706 Transcript missense_variant 2350/5088 2284/3186 762/1061 A/T Gca/Aca 1 NA 1 ZNF451 HGNC HGNC:21091 protein_coding YES CCDS43477.1 ENSP00000359740 Q9Y4E5.176 UPI000004A571 NM_001031623.3 tolerated(0.07) benign(0.035) 10/15 PANTHER:PTHR24403,PANTHER:PTHR24403:SF52,SMART:SM00355 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . AGC . 2020.6 NA NA NA NA NA NA NA NA NA 57148369 AL135905.2 0 . GRCh38 chr6 63572709 63572709 + Missense_Mutation SNP A A G novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.29A>G p.Lys10Arg p.K10R ENST00000370651 1/6 NA NA NA NA NA NA AL135905.2,missense_variant,p.Lys10Arg,ENST00000370651,;PTP4A1,intron_variant,,ENST00000639568,;PTP4A1,intron_variant,,ENST00000648894,;PTP4A1,intron_variant,,ENST00000672924,;PTP4A1,intron_variant,,ENST00000673199,;PTP4A1,upstream_gene_variant,,ENST00000626021,NM_003463.4;PTP4A1,upstream_gene_variant,,ENST00000627002,;AL135905.1,upstream_gene_variant,,ENST00000584934,;PTP4A1,intron_variant,,ENST00000470661,;PTP4A1,upstream_gene_variant,,ENST00000473334,;AL135905.2,missense_variant,p.Lys10Arg,ENST00000673217,;,regulatory_region_variant,,ENSR00000198508,; G ENSG00000285976 ENST00000370651 Transcript missense_variant 238/4628 29/135 10/44 K/R aAa/aGa 1 NA 1 AL135905.2 Clone_based_ensembl_gene protein_coding YES ENSP00000359685 A0A3F2YNX1.6 UPI000268B497 tolerated_low_confidence(0.48) benign(0) 1/6 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . AAA . 190.6 NA NA NA NA NA NA NA NA NA 63572709 COL9A1 1297 . GRCh38 chr6 70234908 70234908 + Silent SNP C C G rs1327582300 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2145G>C p.Gly715= p.G715= ENST00000357250 34/38 NA NA NA NA NA NA COL9A1,synonymous_variant,p.Gly715=,ENST00000357250,NM_001851.6;COL9A1,synonymous_variant,p.Gly472=,ENST00000320755,NM_001377290.1,NM_078485.4,NM_001377289.1;AL160262.1,intron_variant,,ENST00000522264,;COL9A1,non_coding_transcript_exon_variant,,ENST00000360859,;COL9A1,non_coding_transcript_exon_variant,,ENST00000489611,;COL9A1,non_coding_transcript_exon_variant,,ENST00000486080,;COL9A1,non_coding_transcript_exon_variant,,ENST00000447041,;COL9A1,3_prime_UTR_variant,,ENST00000644493,;COL9A1,downstream_gene_variant,,ENST00000493682,; G ENSG00000112280 ENST00000357250 Transcript synonymous_variant 2305/3697 2145/2766 715/921 G ggG/ggC rs1327582300 1 NA -1 COL9A1 HGNC HGNC:2217 protein_coding YES CCDS4971.1 ENSP00000349790 P20849.212 UPI000020D14B NM_001851.6 34/38 Pfam:PF01391,PANTHER:PTHR24023,PANTHER:PTHR24023:SF981 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . GCC . 1137.6 NA NA NA NA NA NA NA NA NA 70234908 KCNQ5 56479 . GRCh38 chr6 72622225 72622225 + Silent SNP C C T rs1250006993 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.36C>T p.Gly12= p.G12= ENST00000342056 1/15 NA NA NA NA NA NA KCNQ5,synonymous_variant,p.Gly12=,ENST00000342056,NM_001160133.2,NM_001160132.2;KCNQ5,synonymous_variant,p.Gly12=,ENST00000355635,;KCNQ5,synonymous_variant,p.Gly12=,ENST00000402622,;KCNQ5,synonymous_variant,p.Gly12=,ENST00000355194,;KCNQ5,synonymous_variant,p.Gly12=,ENST00000403813,;KCNQ5,synonymous_variant,p.Gly12=,ENST00000370398,NM_019842.4;KCNQ5,synonymous_variant,p.Gly12=,ENST00000414165,;KCNQ5,synonymous_variant,p.Gly12=,ENST00000628967,NM_001160134.2;KCNQ5,synonymous_variant,p.Gly12=,ENST00000629977,NM_001160130.2;KCNQ5,synonymous_variant,p.Gly12=,ENST00000370392,;FO393414.3,upstream_gene_variant,,ENST00000649228,;FO393414.3,upstream_gene_variant,,ENST00000664828,;KCNQ5,non_coding_transcript_exon_variant,,ENST00000445310,;,regulatory_region_variant,,ENSR00000198772,; T ENSG00000185760 ENST00000342056 Transcript synonymous_variant 434/6688 36/2856 12/951 G ggC/ggT rs1250006993 1 NA 1 KCNQ5 HGNC HGNC:6299 protein_coding YES CCDS55034.1 ENSP00000345055 Q9NR82.170 UPI000155D644 NM_001160133.2,NM_001160132.2 1/15 Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA 1 . GCG . 85.6 NA NA NA NA NA NA NA NA NA 72622225 KCNQ5 56479 . GRCh38 chr6 72622245 72622245 + Missense_Mutation SNP A A G novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.56A>G p.Lys19Arg p.K19R ENST00000342056 1/15 NA NA NA NA NA NA KCNQ5,missense_variant,p.Lys19Arg,ENST00000342056,NM_001160133.2,NM_001160132.2;KCNQ5,missense_variant,p.Lys19Arg,ENST00000355635,;KCNQ5,missense_variant,p.Lys19Arg,ENST00000402622,;KCNQ5,missense_variant,p.Lys19Arg,ENST00000355194,;KCNQ5,missense_variant,p.Lys19Arg,ENST00000403813,;KCNQ5,missense_variant,p.Lys19Arg,ENST00000370398,NM_019842.4;KCNQ5,missense_variant,p.Lys19Arg,ENST00000414165,;KCNQ5,missense_variant,p.Lys19Arg,ENST00000628967,NM_001160134.2;KCNQ5,missense_variant,p.Lys19Arg,ENST00000629977,NM_001160130.2;KCNQ5,missense_variant,p.Lys19Arg,ENST00000370392,;FO393414.3,upstream_gene_variant,,ENST00000649228,;FO393414.3,upstream_gene_variant,,ENST00000664828,;KCNQ5,non_coding_transcript_exon_variant,,ENST00000445310,;,regulatory_region_variant,,ENSR00000198772,; G ENSG00000185760 ENST00000342056 Transcript missense_variant 454/6688 56/2856 19/951 K/R aAg/aGg 1 NA 1 KCNQ5 HGNC HGNC:6299 protein_coding YES CCDS55034.1 ENSP00000345055 Q9NR82.170 UPI000155D644 NM_001160133.2,NM_001160132.2 tolerated_low_confidence(0.29) benign(0) 1/15 Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA 1 . AAG . 45.6 NA NA NA NA NA NA NA NA NA 72622245 KCNQ5 56479 . GRCh38 chr6 72622255 72622255 + Silent SNP A A G rs1286156412 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.66A>G p.Ala22= p.A22= ENST00000342056 1/15 NA NA NA NA NA NA KCNQ5,synonymous_variant,p.Ala22=,ENST00000342056,NM_001160133.2,NM_001160132.2;KCNQ5,synonymous_variant,p.Ala22=,ENST00000355635,;KCNQ5,synonymous_variant,p.Ala22=,ENST00000402622,;KCNQ5,synonymous_variant,p.Ala22=,ENST00000355194,;KCNQ5,synonymous_variant,p.Ala22=,ENST00000403813,;KCNQ5,synonymous_variant,p.Ala22=,ENST00000370398,NM_019842.4;KCNQ5,synonymous_variant,p.Ala22=,ENST00000414165,;KCNQ5,synonymous_variant,p.Ala22=,ENST00000628967,NM_001160134.2;KCNQ5,synonymous_variant,p.Ala22=,ENST00000629977,NM_001160130.2;KCNQ5,synonymous_variant,p.Ala22=,ENST00000370392,;FO393414.3,upstream_gene_variant,,ENST00000649228,;FO393414.3,upstream_gene_variant,,ENST00000664828,;KCNQ5,non_coding_transcript_exon_variant,,ENST00000445310,;,regulatory_region_variant,,ENSR00000198772,; G ENSG00000185760 ENST00000342056 Transcript synonymous_variant 464/6688 66/2856 22/951 A gcA/gcG rs1286156412 1 NA 1 KCNQ5 HGNC HGNC:6299 protein_coding YES CCDS55034.1 ENSP00000345055 Q9NR82.170 UPI000155D644 NM_001160133.2,NM_001160132.2 1/15 Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA 1 . CAG . 42.6 NA NA NA NA NA NA NA NA NA 72622255 KCNQ5 56479 . GRCh38 chr6 72622266 72622267 + Frame_Shift_Ins INS - - A novel NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.77_78insA p.Ala27GlyfsTer73 p.A27Gfs*73 ENST00000342056 1/15 NA NA NA NA NA NA KCNQ5,frameshift_variant,p.Ala27GlyfsTer73,ENST00000342056,NM_001160133.2,NM_001160132.2;KCNQ5,frameshift_variant,p.Ala27GlyfsTer73,ENST00000355635,;KCNQ5,frameshift_variant,p.Ala27GlyfsTer73,ENST00000402622,;KCNQ5,frameshift_variant,p.Ala27GlyfsTer73,ENST00000355194,;KCNQ5,frameshift_variant,p.Ala27GlyfsTer73,ENST00000403813,;KCNQ5,frameshift_variant,p.Ala27GlyfsTer73,ENST00000370398,NM_019842.4;KCNQ5,frameshift_variant,p.Ala27GlyfsTer73,ENST00000414165,;KCNQ5,frameshift_variant,p.Ala27GlyfsTer73,ENST00000628967,NM_001160134.2;KCNQ5,frameshift_variant,p.Ala27GlyfsTer73,ENST00000629977,NM_001160130.2;KCNQ5,frameshift_variant,p.Ala27GlyfsTer73,ENST00000370392,;FO393414.3,upstream_gene_variant,,ENST00000649228,;FO393414.3,upstream_gene_variant,,ENST00000664828,;KCNQ5,non_coding_transcript_exon_variant,,ENST00000445310,;,regulatory_region_variant,,ENSR00000198772,; A ENSG00000185760 ENST00000342056 Transcript frameshift_variant 475-476/6688 77-78/2856 26/951 A/AX gcg/gcAg 1 NA 1 KCNQ5 HGNC HGNC:6299 protein_coding YES CCDS55034.1 ENSP00000345055 Q9NR82.170 UPI000155D644 NM_001160133.2,NM_001160132.2 1/15 Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 insertion 5 NA NA 1 . GCG . 30.64 NA NA NA NA NA NA NA NA NA 72622266 KCNQ5 56479 . GRCh38 chr6 72622267 72622268 + Frame_Shift_Ins INS - - GC novel NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.80_81dup p.Gly28ArgfsTer10 p.G28Rfs*10 ENST00000342056 1/15 NA NA NA NA NA NA KCNQ5,frameshift_variant,p.Gly28ArgfsTer10,ENST00000342056,NM_001160133.2,NM_001160132.2;KCNQ5,frameshift_variant,p.Gly28ArgfsTer10,ENST00000355635,;KCNQ5,frameshift_variant,p.Gly28ArgfsTer10,ENST00000402622,;KCNQ5,frameshift_variant,p.Gly28ArgfsTer10,ENST00000355194,;KCNQ5,frameshift_variant,p.Gly28ArgfsTer10,ENST00000403813,;KCNQ5,frameshift_variant,p.Gly28ArgfsTer10,ENST00000370398,NM_019842.4;KCNQ5,frameshift_variant,p.Gly28ArgfsTer10,ENST00000414165,;KCNQ5,frameshift_variant,p.Gly28ArgfsTer10,ENST00000628967,NM_001160134.2;KCNQ5,frameshift_variant,p.Gly28ArgfsTer10,ENST00000629977,NM_001160130.2;KCNQ5,frameshift_variant,p.Gly28ArgfsTer10,ENST00000370392,;FO393414.3,upstream_gene_variant,,ENST00000649228,;FO393414.3,upstream_gene_variant,,ENST00000664828,;KCNQ5,non_coding_transcript_exon_variant,,ENST00000445310,;,regulatory_region_variant,,ENSR00000198772,; GC ENSG00000185760 ENST00000342056 Transcript frameshift_variant 476-477/6688 78-79/2856 26-27/951 -/X -/GC 1 NA 1 KCNQ5 HGNC HGNC:6299 protein_coding YES CCDS55034.1 ENSP00000345055 Q9NR82.170 UPI000155D644 NM_001160133.2,NM_001160132.2 1/15 Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 insertion 5 3 NA 1 . CGG . 33.64 NA NA NA NA NA NA NA NA NA 72622267 KCNQ5 56479 . GRCh38 chr6 73077772 73077772 + Missense_Mutation SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.803C>T p.Thr268Ile p.T268I ENST00000342056 5/15 NA NA NA NA NA NA KCNQ5,missense_variant,p.Thr268Ile,ENST00000342056,NM_001160133.2,NM_001160132.2;KCNQ5,missense_variant,p.Thr268Ile,ENST00000355635,;KCNQ5,missense_variant,p.Thr268Ile,ENST00000402622,;KCNQ5,missense_variant,p.Thr268Ile,ENST00000355194,;KCNQ5,missense_variant,p.Thr268Ile,ENST00000403813,;KCNQ5,missense_variant,p.Thr268Ile,ENST00000370398,NM_019842.4;KCNQ5,missense_variant,p.Thr268Ile,ENST00000414165,;KCNQ5,missense_variant,p.Thr268Ile,ENST00000628967,NM_001160134.2;KCNQ5,missense_variant,p.Thr268Ile,ENST00000629977,NM_001160130.2;KCNQ5,missense_variant,p.Thr268Ile,ENST00000370392,; T ENSG00000185760 ENST00000342056 Transcript missense_variant 1201/6688 803/2856 268/951 T/I aCa/aTa 1 NA 1 KCNQ5 HGNC HGNC:6299 protein_coding YES CCDS55034.1 ENSP00000345055 Q9NR82.170 UPI000155D644 NM_001160133.2,NM_001160132.2 deleterious(0) probably_damaging(0.969) 5/15 Gene3D:1.10.287.70,Pfam:PF00520,Prints:PR00169,Prints:PR01459,Superfamily:SSF81324,Transmembrane_helices:TMhelix NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA 1 . ACA . 304.6 NA NA NA NA NA NA NA NA NA 73077772 MYO6 4646 . GRCh38 chr6 75890141 75890141 + Frame_Shift_Del DEL A A - rs551348450 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2751del p.Lys917AsnfsTer10 p.K917Nfs*10 ENST00000369981 26/36 NA NA NA NA NA NA MYO6,frameshift_variant,p.Lys917AsnfsTer10,ENST00000369981,;MYO6,frameshift_variant,p.Lys917AsnfsTer10,ENST00000664640,NM_001368865.1;MYO6,frameshift_variant,p.Lys917AsnfsTer10,ENST00000369977,NM_004999.4;MYO6,frameshift_variant,p.Lys917AsnfsTer10,ENST00000369985,NM_001300899.2,NM_001368138.1;MYO6,frameshift_variant,p.Lys917AsnfsTer10,ENST00000369975,NM_001368136.1;MYO6,frameshift_variant,p.Lys917AsnfsTer10,ENST00000615563,;MYO6,frameshift_variant,p.Lys917AsnfsTer10,ENST00000672093,NM_001368866.1,NM_001368137.1;MYO6,frameshift_variant,p.Lys920AsnfsTer10,ENST00000627432,;MYO6,frameshift_variant,p.Lys917AsnfsTer?,ENST00000662603,;MYO6,frameshift_variant,p.Lys917AsnfsTer?,ENST00000664209,;MYO6,upstream_gene_variant,,ENST00000430435,;MYO6,downstream_gene_variant,,ENST00000653423,;MYO6,3_prime_UTR_variant,,ENST00000671923,;MYO6,3_prime_UTR_variant,,ENST00000653917,;MYO6,3_prime_UTR_variant,,ENST00000663400,;MYO6,3_prime_UTR_variant,,ENST00000662184,;MYO6,downstream_gene_variant,,ENST00000462633,;MYO6,downstream_gene_variant,,ENST00000660420,;MYO6,upstream_gene_variant,,ENST00000672162,; - ENSG00000196586 ENST00000369981 Transcript frameshift_variant 3022/8692 2743/3888 915/1295 K/X Aaa/aa rs551348450 1 NA 1 MYO6 HGNC HGNC:7605 protein_coding YES ENSP00000358998 E7EW20.72 UPI0001AE7292 26/36 Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,PANTHER:PTHR13140:SF745,PANTHER:PTHR13140,Gene3D:1.10.3060.20 NA NA NA NA NA NA NA NA NA uncertain_significance,pathogenic NA NA NA NA HIGH 1 deletion 5 8 1 NA 1 . AGAA . 1229.6 2.874e-05 NA NA 0.0001198 NA 0.0001004 3.121e-05 NA NA 75890140 TTK 7272 . GRCh38 chr6 80042193 80042193 + Frame_Shift_Del DEL A A - rs768996038 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2571del p.Lys857AsnfsTer36 p.K857Nfs*36 ENST00000369798 22/22 NA NA NA NA NA NA TTK,frameshift_variant,p.Lys856AsnfsTer36,ENST00000509894,;TTK,frameshift_variant,p.Lys856AsnfsTer36,ENST00000230510,NM_001166691.1;TTK,frameshift_variant,p.Lys857AsnfsTer36,ENST00000369798,NM_003318.5;AL591135.2,downstream_gene_variant,,ENST00000670267,;TTK,downstream_gene_variant,,ENST00000504590,; - ENSG00000112742 ENST00000369798 Transcript frameshift_variant 2632/2966 2565/2574 855/857 G/X ggA/gg rs768996038,COSV57882295 1 NA 1 TTK HGNC HGNC:12401 protein_coding YES CCDS4993.1 ENSP00000358813 P33981.208 UPI0000073C7B NM_003318.5 22/22 PDB-ENSP_mappings:2zmc.A,PDB-ENSP_mappings:2zmd.A,PDB-ENSP_mappings:3dbq.A,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA HIGH 1 deletion 1 6 0,1 NA NA . GGAA . 738.6 1.631e-05 NA 5.983e-05 NA NA NA 1.801e-05 NA NA 80042192 TENT5A 55603 . GRCh38 chr6 81752010 81752011 + In_Frame_Ins INS - - CCGCCGAAGTCGCCGCCGCCGAAGTCGCCG rs754008809 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.345_374dup p.Asp117_Gly126dup p.D117_G126dup ENST00000369756 2/3 NA NA NA NA NA NA TENT5A,inframe_insertion,p.Asp55_Gly64dup,ENST00000369754,;TENT5A,inframe_insertion,p.Asp36_Gly45dup,ENST00000320172,NM_017633.3;TENT5A,inframe_insertion,p.Asp117_Gly126dup,ENST00000369756,;TENT5A,upstream_gene_variant,,ENST00000412306,;TENT5A,upstream_gene_variant,,ENST00000423467,;,regulatory_region_variant,,ENSR00000321694,; CCGCCGAAGTCGCCGCCGCCGAAGTCGCCG ENSG00000112773 ENST00000369756 Transcript inframe_insertion 374-375/5537 374-375/1572 125/523 G/GGDFGGGDFGG ggt/ggCGGCGACTTCGGCGGCGGCGACTTCGGCGGt rs754008809 1 NA -1 TENT5A HGNC HGNC:18345 protein_coding YES ENSP00000358771 Q5TF85.122 UPI000004EC63 2/3 Low_complexity_(Seg):seg,PANTHER:PTHR12974:SF25,PANTHER:PTHR12974 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 insertion 1 NA 1 NA 1 . CAC . 1680.64 NA NA NA NA NA NA NA NA NA 81752010 CYB5R4 51167 . GRCh38 chr6 83924511 83924512 + Frame_Shift_Ins INS - - A rs745836350 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.741dup p.Glu248ArgfsTer16 p.E248Rfs*16 ENST00000369681 10/16 NA NA NA NA NA NA CYB5R4,frameshift_variant,p.Glu248ArgfsTer16,ENST00000369681,NM_016230.4;CYB5R4,upstream_gene_variant,,ENST00000479164,; A ENSG00000065615 ENST00000369681 Transcript frameshift_variant 827-828/9205 733-734/1566 245/521 Q/QX caa/cAaa rs745836350 1 NA 1 CYB5R4 HGNC HGNC:20147 protein_coding YES CCDS5000.2 ENSP00000358695 Q7L1T6.134 UPI000056D3CE NM_016230.4 10/16 PDB-ENSP_mappings:6mv1.A,PDB-ENSP_mappings:6mv2.A,CDD:cd06490,Pfam:PF04969,Gene3D:2.60.40.790,Superfamily:SSF49764,PROSITE_profiles:PS51203,PANTHER:PTHR19370:SF187,PANTHER:PTHR19370 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 insertion 1 8 NA NA . ACA . 2701.64 4.008e-06 NA NA NA NA NA 8.844e-06 NA NA 83924511 MDN1 23195 . GRCh38 chr6 89706133 89706134 + Frame_Shift_Ins INS - - A novel NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.8073dup p.Glu2692Ter p.E2692* ENST00000369393 53/102 NA NA NA NA NA NA MDN1,frameshift_variant,p.Glu2692Ter,ENST00000369393,NM_014611.3;MDN1,frameshift_variant,p.Glu2692Ter,ENST00000629399,; A ENSG00000112159 ENST00000369393 Transcript frameshift_variant 8260-8261/18485 8073-8074/16791 2691-2692/5596 -/X -/T 1 NA -1 MDN1 HGNC HGNC:18302 protein_coding YES CCDS5024.1 ENSP00000358400 Q9NU22.174 UPI000013C4B8 NM_014611.3 53/102 PIRSF:PIRSF010340,PANTHER:PTHR43882,PANTHER:PTHR43882:SF2 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 insertion 1 NA NA NA . TCA . 1561.64 NA NA NA NA NA NA NA NA NA 89706133 MDN1 23195 . GRCh38 chr6 89747468 89747468 + Splice_Region SNP G G T NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3765C>A p.Ser1255= p.S1255= ENST00000369393 27/102 NA NA NA NA NA NA MDN1,splice_region_variant,p.Ser1255=,ENST00000369393,NM_014611.3;MDN1,splice_region_variant,p.Ser1255=,ENST00000629399,;MDN1,downstream_gene_variant,,ENST00000439638,; T ENSG00000112159 ENST00000369393 Transcript splice_region_variant,synonymous_variant 3952/18485 3765/16791 1255/5596 S tcC/tcA COSV101020882 1 NA -1 MDN1 HGNC HGNC:18302 protein_coding YES CCDS5024.1 ENSP00000358400 Q9NU22.174 UPI000013C4B8 NM_014611.3 27/102 Pfam:PF17867,PIRSF:PIRSF010340,PANTHER:PTHR43882,PANTHER:PTHR43882:SF2,Superfamily:SSF52540 NA NA NA NA NA NA NA NA NA 1 NA NA NA NA LOW 1 SNV 1 NA 1 NA NA . AGG . 2641.6 NA NA NA NA NA NA NA NA NA 89747468 POU3F2 5454 . GRCh38 chr6 98835029 98835029 + Silent SNP A A G rs1162115472 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.156A>G p.Gly52= p.G52= ENST00000328345 1/1 NA NA NA NA NA NA POU3F2,synonymous_variant,p.Gly52=,ENST00000328345,NM_005604.4;AL589826.2,upstream_gene_variant,,ENST00000635423,;,regulatory_region_variant,,ENSR00000200204,;,TF_binding_site_variant,,ENSM00019970455,; G ENSG00000184486 ENST00000328345 Transcript synonymous_variant 456/4885 156/1332 52/443 G ggA/ggG rs1162115472 1 NA 1 POU3F2 HGNC HGNC:9215 protein_coding YES CCDS5040.1 ENSP00000329170 P20265.204 UPI000016A1E7 NM_005604.4 1/1 PIRSF:PIRSF002629,PANTHER:PTHR11636,PANTHER:PTHR11636:SF115 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW NA SNV NA NA NA NA . GAC . 36.6 NA NA NA NA NA NA NA NA NA 98835029 FBXL4 26235 . GRCh38 chr6 98926980 98926980 + Silent SNP C C T rs773041308 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.9G>A p.Pro3= p.P3= ENST00000369244 4/10 NA NA NA NA NA NA FBXL4,synonymous_variant,p.Pro3=,ENST00000369244,NM_001278716.2;FBXL4,synonymous_variant,p.Pro3=,ENST00000229971,NM_012160.4; T ENSG00000112234 ENST00000369244 Transcript synonymous_variant 458/8058 9/1866 3/621 P ccG/ccA rs773041308 1 NA -1 FBXL4 HGNC HGNC:13601 protein_coding YES CCDS5041.1 ENSP00000358247 Q9UKA2.168 UPI000012ADE3 NM_001278716.2 4/10 NA NA NA NA NA NA NA NA NA likely_benign,uncertain_significance 25741868 NA NA NA NA LOW 1 SNV 1 NA 1 NA 1 . CCG . 862.64 1.198e-05 6.174e-05 2.896e-05 NA NA NA 8.843e-06 NA NA 98926980 MCHR2 84539 . GRCh38 chr6 99947957 99947958 + Frame_Shift_Ins INS - - T rs774746204 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.196dup p.Thr66AsnfsTer4 p.T66Nfs*4 ENST00000281806 3/6 NA NA NA NA NA NA MCHR2,frameshift_variant,p.Thr66AsnfsTer4,ENST00000281806,NM_001040179.2;MCHR2,frameshift_variant,p.Thr66AsnfsTer4,ENST00000369212,NM_032503.2; T ENSG00000152034 ENST00000281806 Transcript frameshift_variant 511-512/3759 196-197/1023 66/340 T/NX aca/aAca rs774746204 1 NA -1 MCHR2 HGNC HGNC:20867 protein_coding YES CCDS5044.1 ENSP00000281806 Q969V1.143 UPI000003730F NM_001040179.2 3/6 Gene3D:1.20.1070.10,Pfam:PF00001,Prints:PR01783,Prints:PR01784,PROSITE_profiles:PS50262,PANTHER:PTHR24230,PANTHER:PTHR24230:SF7,Superfamily:SSF81321,CDD:cd15339 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 insertion 2 NA NA NA . TGT . 1444.64 NA NA NA NA NA NA NA NA NA 99947957 CD24 100133941 . GRCh38 chr6 106971734 106971734 + Missense_Mutation SNP G G A rs878859113 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.317C>T p.Ala106Val p.A106V ENST00000622315 2/2 NA NA NA NA NA NA CD24,missense_variant,p.Ala57Val,ENST00000619133,NM_013230.3;CD24,missense_variant,p.Ala57Val,ENST00000606017,NM_001291738.1,NM_001359084.1;CD24,missense_variant,p.Ala99Val,ENST00000615659,;CD24,missense_variant,p.Ala106Val,ENST00000622315,NM_001291739.1;CD24,missense_variant,p.Ala57Val,ENST00000610952,NM_001291737.1;CD24,missense_variant,p.Ala65Val,ENST00000619869,;CD24,intron_variant,,ENST00000620405,;CD24,downstream_gene_variant,,ENST00000621311,;,regulatory_region_variant,,ENSR00000200682,; A ENSG00000272398 ENST00000622315 Transcript missense_variant 471/825 317/390 106/129 A/V gCg/gTg rs878859113,CM035761 1 NA -1 CD24 HGNC HGNC:1645 protein_coding YES CCDS78166.1 ENSP00000481841 P25063.167 UPI00006C1D27 NM_001291739.1 tolerated_low_confidence(0.06) benign(0.009) 2/2 Pfam:PF14984,PANTHER:PTHR16676,PANTHER:PTHR16676:SF1,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 2 NA 0,1 NA 1 . CGC . 3830.6 NA NA NA NA NA NA NA NA NA 106971734 SEC63 11231 . GRCh38 chr6 107893551 107893552 + Frame_Shift_Del DEL TT TT - novel NA HCI-EC-23 NORMAL TT TT NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1604_1605del p.Lys535ThrfsTer24 p.K535Tfs*24 ENST00000369002 16/21 NA NA NA NA NA NA SEC63,frameshift_variant,p.Lys535ThrfsTer24,ENST00000369002,NM_007214.5;SEC63,downstream_gene_variant,,ENST00000466419,; - ENSG00000025796 ENST00000369002 Transcript frameshift_variant 1803-1804/6430 1604-1605/2283 535/760 K/X aAA/a 1 NA -1 SEC63 HGNC HGNC:21082 protein_coding YES CCDS5061.1 ENSP00000357998 Q9UGP8.179 A0A0S2Z5M1.35 UPI000000DBBB NM_007214.5 16/21 Low_complexity_(Seg):seg,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite,PANTHER:PTHR24075:SF0,PANTHER:PTHR24075,SMART:SM00973,Superfamily:SSF81296 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 NA NA 1 . GGTTT . 1445.6 NA NA NA NA NA NA NA NA NA 107893550 AMD1 262 . GRCh38 chr6 110892976 110892976 + Silent SNP T T C NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.775T>C p.Leu259= p.L259= ENST00000672937 8/9 NA NA NA NA NA NA AMD1,synonymous_variant,p.Leu259=,ENST00000672937,;AMD1,synonymous_variant,p.Leu259=,ENST00000368885,NM_001287215.1;AMD1,synonymous_variant,p.Leu259=,ENST00000368882,NM_001634.5,NM_001287214.1;AMD1,synonymous_variant,p.Leu139=,ENST00000675380,NM_001287216.1;AMD1,synonymous_variant,p.Leu190=,ENST00000368876,;AMD1,synonymous_variant,p.Leu190=,ENST00000368877,;AMD1,3_prime_UTR_variant,,ENST00000451850,;AMD1,3_prime_UTR_variant,,ENST00000465404,;AMD1,non_coding_transcript_exon_variant,,ENST00000612642,;AMD1,non_coding_transcript_exon_variant,,ENST00000619590,; C ENSG00000123505 ENST00000672937 Transcript synonymous_variant 1096/6589 775/1389 259/462 L Tta/Cta COSV64386935 1 NA 1 AMD1 HGNC HGNC:457 protein_coding YES ENSP00000500249 A0A5F9ZHD5.2 UPI001236E194 8/9 Gene3D:3.60.90.10,Pfam:PF01536,PANTHER:PTHR11570,PANTHER:PTHR11570:SF0,Superfamily:SSF56276,TIGRFAM:TIGR00535 NA NA NA NA NA NA NA NA NA 1 NA NA NA NA LOW 1 SNV NA NA 1 NA NA . CTT . 324.6 NA NA NA NA NA NA NA NA NA 110892976 AMD1 262 . GRCh38 chr6 110892996 110892996 + Silent SNP T T C NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.795T>C p.Asp265= p.D265= ENST00000672937 8/9 NA NA NA NA NA NA AMD1,synonymous_variant,p.Asp265=,ENST00000672937,;AMD1,synonymous_variant,p.Asp265=,ENST00000368885,NM_001287215.1;AMD1,synonymous_variant,p.Asp265=,ENST00000368882,NM_001634.5,NM_001287214.1;AMD1,synonymous_variant,p.Asp145=,ENST00000675380,NM_001287216.1;AMD1,synonymous_variant,p.Asp196=,ENST00000368876,;AMD1,synonymous_variant,p.Asp196=,ENST00000368877,;AMD1,3_prime_UTR_variant,,ENST00000451850,;AMD1,3_prime_UTR_variant,,ENST00000465404,;AMD1,non_coding_transcript_exon_variant,,ENST00000612642,;AMD1,non_coding_transcript_exon_variant,,ENST00000619590,; C ENSG00000123505 ENST00000672937 Transcript synonymous_variant 1116/6589 795/1389 265/462 D gaT/gaC COSV64386941 1 NA 1 AMD1 HGNC HGNC:457 protein_coding YES ENSP00000500249 A0A5F9ZHD5.2 UPI001236E194 8/9 Gene3D:3.60.90.10,Pfam:PF01536,PANTHER:PTHR11570,PANTHER:PTHR11570:SF0,Superfamily:SSF56276,TIGRFAM:TIGR00535 NA NA NA NA NA NA NA NA NA 1 NA NA NA NA LOW 1 SNV NA NA 1 NA NA . ATG . 348.6 NA NA NA NA NA NA NA NA NA 110892996 AMD1 262 . GRCh38 chr6 110893017 110893017 + Silent SNP A A G NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.816A>G p.Val272= p.V272= ENST00000672937 8/9 NA NA NA NA NA NA AMD1,synonymous_variant,p.Val272=,ENST00000672937,;AMD1,synonymous_variant,p.Val272=,ENST00000368885,NM_001287215.1;AMD1,synonymous_variant,p.Val272=,ENST00000368882,NM_001634.5,NM_001287214.1;AMD1,synonymous_variant,p.Val152=,ENST00000675380,NM_001287216.1;AMD1,synonymous_variant,p.Val203=,ENST00000368876,;AMD1,synonymous_variant,p.Val203=,ENST00000368877,;AMD1,3_prime_UTR_variant,,ENST00000451850,;AMD1,3_prime_UTR_variant,,ENST00000465404,;AMD1,non_coding_transcript_exon_variant,,ENST00000612642,;AMD1,non_coding_transcript_exon_variant,,ENST00000619590,; G ENSG00000123505 ENST00000672937 Transcript synonymous_variant 1137/6589 816/1389 272/462 V gtA/gtG COSV64386949 1 NA 1 AMD1 HGNC HGNC:457 protein_coding YES ENSP00000500249 A0A5F9ZHD5.2 UPI001236E194 8/9 Gene3D:3.60.90.10,Pfam:PF01536,PANTHER:PTHR11570,PANTHER:PTHR11570:SF0,Superfamily:SSF56276,TIGRFAM:TIGR00535 NA NA NA NA NA NA NA NA NA 1 NA NA NA NA LOW 1 SNV NA NA 1 NA NA . TAG . 331.6 NA NA NA NA NA NA NA NA NA 110893017 TSPYL1 7259 . GRCh38 chr6 116279302 116279303 + In_Frame_Ins INS - - CAC rs56100880 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.526_528dup p.Val176dup p.V176dup ENST00000368608 1/1 NA NA NA NA NA NA TSPYL1,inframe_insertion,p.Val176dup,ENST00000368608,NM_003309.4;DSE,intron_variant,,ENST00000430252,;DSE,intron_variant,,ENST00000647244,NM_001374521.1;DSE,upstream_gene_variant,,ENST00000452085,NM_001080976.3;DSE,upstream_gene_variant,,ENST00000643175,;DSE,upstream_gene_variant,,ENST00000449314,;DSE,upstream_gene_variant,,ENST00000453463,;DSE,upstream_gene_variant,,ENST00000642434,;DSE,upstream_gene_variant,,ENST00000645959,;TSPYL1,inframe_insertion,p.Val176dup,ENST00000652202,;DSE,non_coding_transcript_exon_variant,,ENST00000607094,;,regulatory_region_variant,,ENSR00000322656,;,TF_binding_site_variant,,ENSM00524489007,;,TF_binding_site_variant,,ENSM00189539512,; CAC ENSG00000189241 ENST00000368608 Transcript inframe_insertion 628-629/5073 528-529/1314 176-177/437 -/V -/GTG rs56100880 1 NA -1 TSPYL1 HGNC HGNC:12382 protein_coding YES CCDS34518.1 ENSP00000357597 Q9H0U9.155 UPI000006EE16 NM_003309.4 1/1 PANTHER:PTHR11875,PANTHER:PTHR11875:SF64,Low_complexity_(Seg):seg NA 0.9592 0.7839 NA 0.9772 0.6521 0.9356 0.9099 0.6353 22848613 NA NA NA NA MODERATE 1 insertion NA NA NA 1 . TTC . 1833.64 NA NA NA NA NA NA NA NA NA 116279302 ROS1 6098 . GRCh38 chr6 117319965 117319965 + Missense_Mutation SNP C C T rs140237260 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.5843G>A p.Arg1948His p.R1948H ENST00000368508 36/43 NA NA NA NA NA NA ROS1,missense_variant,p.Arg1942His,ENST00000368507,NM_001378902.1,NM_001378891.1;ROS1,missense_variant,p.Arg1948His,ENST00000368508,NM_002944.3;AL132671.2,missense_variant,p.Arg264His,ENST00000467125,; T ENSG00000047936 ENST00000368508 Transcript missense_variant 6042/7435 5843/7044 1948/2347 R/H cGt/cAt rs140237260 1 NA -1 ROS1 HGNC HGNC:10261 protein_coding YES CCDS5116.1 ENSP00000357494 P08922.203 UPI000013D467 NM_002944.3 tolerated(0.6) benign(0.061) 36/43 PDB-ENSP_mappings:3zbf.A,PDB-ENSP_mappings:4uxl.A,Pfam:PF07714,Gene3D:3.30.200.20,SMART:SM00219,Superfamily:SSF56112,PROSITE_profiles:PS50011,PANTHER:PTHR24416,PANTHER:PTHR24416:SF527 NA NA NA NA NA NA NA 0.000227 NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . ACG . 575.6 1.594e-05 6.157e-05 NA NA 5.443e-05 NA 1.763e-05 NA NA 117319965 NUS1 116150 . GRCh38 chr6 117706977 117706977 + Missense_Mutation SNP C C T rs150953098 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.844C>T p.Arg282Cys p.R282C ENST00000368494 5/5 NA NA NA NA NA NA NUS1,missense_variant,p.Arg282Cys,ENST00000368494,NM_138459.5;,regulatory_region_variant,,ENSR00000803027,; T ENSG00000153989 ENST00000368494 Transcript missense_variant 1046/4796 844/882 282/293 R/C Cgt/Tgt rs150953098 1 NA 1 NUS1 HGNC HGNC:21042 protein_coding YES CCDS5118.1 ENSP00000357480 Q96E22.150 UPI000006FECA NM_138459.5 tolerated(0.29) benign(0.013) 5/5 Gene3D:3.40.1180.10,Pfam:PF01255,PANTHER:PTHR21528,PANTHER:PTHR21528:SF3,Superfamily:SSF64005 2e-04 8e-04 NA NA NA NA NA 0.000227 NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . TCG . 5749.6 4.384e-05 0.0003077 NA NA NA 4.621e-05 3.533e-05 0.0001633 NA 117706977 RNF146 81847 . GRCh38 chr6 127286927 127286927 + Missense_Mutation SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.314C>T p.Ala105Val p.A105V ENST00000368314 3/3 NA NA NA NA NA NA RNF146,missense_variant,p.Ala104Val,ENST00000309649,NM_001242852.1,NM_001242844.1,NM_001242847.1,NM_001242845.1;RNF146,missense_variant,p.Ala104Val,ENST00000608991,NM_030963.3,NM_001242846.1,NM_001242848.1;RNF146,missense_variant,p.Ala105Val,ENST00000368314,NM_001242850.2;RNF146,missense_variant,p.Ala105Val,ENST00000616343,NM_001242851.1;RNF146,missense_variant,p.Ala105Val,ENST00000610153,NM_001242849.1;RNF146,3_prime_UTR_variant,,ENST00000356799,;ECHDC1,downstream_gene_variant,,ENST00000368289,;ECHDC1,downstream_gene_variant,,ENST00000368291,NM_018479.3;ECHDC1,downstream_gene_variant,,ENST00000430841,;ECHDC1,downstream_gene_variant,,ENST00000436638,;ECHDC1,downstream_gene_variant,,ENST00000454591,NM_001105544.1;ECHDC1,downstream_gene_variant,,ENST00000454859,NM_001002030.2;ECHDC1,downstream_gene_variant,,ENST00000460558,;ECHDC1,downstream_gene_variant,,ENST00000474289,;RNF146,downstream_gene_variant,,ENST00000476956,;RNF146,downstream_gene_variant,,ENST00000477776,;RNF146,downstream_gene_variant,,ENST00000480444,;ECHDC1,downstream_gene_variant,,ENST00000528402,NM_001105545.1;ECHDC1,downstream_gene_variant,,ENST00000531967,NM_001139510.1;RNF146,downstream_gene_variant,,ENST00000609447,;RNF146,downstream_gene_variant,,ENST00000609944,;RNF146,downstream_gene_variant,,ENST00000610162,;RNF146,non_coding_transcript_exon_variant,,ENST00000489534,;ECHDC1,downstream_gene_variant,,ENST00000488087,;RNF146,downstream_gene_variant,,ENST00000608340,;ECHDC1,downstream_gene_variant,,ENST00000368292,;ECHDC1,downstream_gene_variant,,ENST00000368295,;ECHDC1,downstream_gene_variant,,ENST00000417628,;ECHDC1,downstream_gene_variant,,ENST00000475319,;ECHDC1,downstream_gene_variant,,ENST00000479525,; T ENSG00000118518 ENST00000368314 Transcript missense_variant 484/2119 314/1080 105/359 A/V gCa/gTa 1 NA 1 RNF146 HGNC HGNC:21336 protein_coding YES CCDS56449.1 ENSP00000357297 Q9NTX7.165 UPI000007395E NM_001242850.2 deleterious(0.02) benign(0.021) 3/3 PDB-ENSP_mappings:3v3l.A,PDB-ENSP_mappings:3v3l.B,PROSITE_profiles:PS50918,PANTHER:PTHR13417:SF2,PANTHER:PTHR13417,Gene3D:3.30.720.50,Pfam:PF02825,SMART:SM00678,Superfamily:SSF117839 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 2 NA NA NA . GCA . 3246.6 NA NA NA NA NA NA NA NA NA 127286927 RNF146 81847 . GRCh38 chr6 127287622 127287622 + Frame_Shift_Del DEL G G - novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1013del p.Gly338ValfsTer4 p.G338Vfs*4 ENST00000368314 3/3 NA NA NA NA NA NA RNF146,frameshift_variant,p.Gly337ValfsTer4,ENST00000309649,NM_001242852.1,NM_001242844.1,NM_001242847.1,NM_001242845.1;RNF146,frameshift_variant,p.Gly337ValfsTer4,ENST00000608991,NM_030963.3,NM_001242846.1,NM_001242848.1;RNF146,frameshift_variant,p.Gly338ValfsTer4,ENST00000368314,NM_001242850.2;RNF146,frameshift_variant,p.Gly338ValfsTer4,ENST00000616343,NM_001242851.1;RNF146,frameshift_variant,p.Gly338ValfsTer4,ENST00000610153,NM_001242849.1;RNF146,3_prime_UTR_variant,,ENST00000356799,;ECHDC1,downstream_gene_variant,,ENST00000368289,;ECHDC1,downstream_gene_variant,,ENST00000368291,NM_018479.3;ECHDC1,downstream_gene_variant,,ENST00000430841,;ECHDC1,downstream_gene_variant,,ENST00000436638,;ECHDC1,downstream_gene_variant,,ENST00000454591,NM_001105544.1;ECHDC1,downstream_gene_variant,,ENST00000454859,NM_001002030.2;ECHDC1,downstream_gene_variant,,ENST00000460558,;ECHDC1,downstream_gene_variant,,ENST00000474289,;RNF146,downstream_gene_variant,,ENST00000476956,;RNF146,downstream_gene_variant,,ENST00000477776,;RNF146,downstream_gene_variant,,ENST00000480444,;ECHDC1,downstream_gene_variant,,ENST00000528402,NM_001105545.1;ECHDC1,downstream_gene_variant,,ENST00000531967,NM_001139510.1;RNF146,downstream_gene_variant,,ENST00000609447,;RNF146,downstream_gene_variant,,ENST00000609944,;RNF146,downstream_gene_variant,,ENST00000610162,;ECHDC1,downstream_gene_variant,,ENST00000488087,;RNF146,downstream_gene_variant,,ENST00000489534,;RNF146,downstream_gene_variant,,ENST00000608340,;ECHDC1,downstream_gene_variant,,ENST00000368292,;ECHDC1,downstream_gene_variant,,ENST00000368295,;ECHDC1,downstream_gene_variant,,ENST00000417628,;ECHDC1,downstream_gene_variant,,ENST00000475319,;ECHDC1,downstream_gene_variant,,ENST00000479525,; - ENSG00000118518 ENST00000368314 Transcript frameshift_variant 1179/2119 1009/1080 337/359 G/X Ggg/gg 1 NA 1 RNF146 HGNC HGNC:21336 protein_coding YES CCDS56449.1 ENSP00000357297 Q9NTX7.165 UPI000007395E NM_001242850.2 3/3 Low_complexity_(Seg):seg,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 2 4 NA NA . CAGG . 2606.6 NA NA NA NA NA NA NA NA NA 127287621 PTPRK 5796 . GRCh38 chr6 127973683 127973683 + Missense_Mutation SNP G G A rs1344743013 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4210C>T p.Arg1404Trp p.R1404W ENST00000368207 32/34 NA NA NA NA NA NA PTPRK,missense_variant,p.Arg1372Trp,ENST00000368226,NM_002844.4;PTPRK,missense_variant,p.Arg1378Trp,ENST00000368213,NM_001135648.3;PTPRK,missense_variant,p.Arg1394Trp,ENST00000532331,NM_001291981.2;PTPRK,missense_variant,p.Arg1390Trp,ENST00000368210,;PTPRK,missense_variant,p.Arg1404Trp,ENST00000368207,;PTPRK,missense_variant,p.Arg1371Trp,ENST00000368215,NM_001291984.2; A ENSG00000152894 ENST00000368207 Transcript missense_variant 4435/4758 4210/4419 1404/1472 R/W Cgg/Tgg rs1344743013,COSV63897898 1 NA -1 PTPRK HGNC HGNC:9674 protein_coding YES ENSP00000357190 E9PGC5.78 UPI0001F7888C deleterious(0) probably_damaging(1) 32/34 CDD:cd14636,Gene3D:3.90.190.10,Pfam:PF00102,SMART:SM00404,SMART:SM00194,Superfamily:SSF52799,PROSITE_profiles:PS50056,PROSITE_profiles:PS50055,PANTHER:PTHR19134:SF209,PANTHER:PTHR19134 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 5 NA 0,1 NA 1 . CGG . 1394.6 NA NA NA NA NA NA NA NA NA 127973683 LAMA2 3908 . GRCh38 chr6 129514419 129514419 + Missense_Mutation SNP A A G rs761837358 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.9035A>G p.Tyr3012Cys p.Y3012C ENST00000421865 64/65 NA NA NA NA NA NA LAMA2,missense_variant,p.Tyr3012Cys,ENST00000421865,NM_000426.4,NM_001079823.2;LAMA2,missense_variant,p.Tyr3011Cys,ENST00000618192,;LAMA2,missense_variant,p.Tyr3008Cys,ENST00000617695,;AL356124.1,intron_variant,,ENST00000657779,;AL356124.1,intron_variant,,ENST00000659721,;AL356124.1,intron_variant,,ENST00000664071,;AL356124.1,intron_variant,,ENST00000665046,;AL356124.1,intron_variant,,ENST00000668058,;AL356124.1,intron_variant,,ENST00000670413,; G ENSG00000196569 ENST00000421865 Transcript missense_variant 9143/9696 9035/9369 3012/3122 Y/C tAt/tGt rs761837358,COSV70351542 1 NA 1 LAMA2 HGNC HGNC:6482 protein_coding YES CCDS5138.1 ENSP00000400365 P24043.212 UPI00003673E0 NM_000426.4,NM_001079823.2 deleterious(0) probably_damaging(0.995) 64/65 Gene3D:2.60.120.200,Pfam:PF02210,PROSITE_profiles:PS50025,PANTHER:PTHR10574,PANTHER:PTHR10574:SF291,SMART:SM00282,Superfamily:SSF49899,CDD:cd00110 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 5 NA 0,1 NA 1 . TAT . 1867.6 3.979e-06 6.152e-05 NA NA NA NA NA NA NA 129514419 EYA4 2070 . GRCh38 chr6 133528784 133528784 + Silent SNP A A G novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1917A>G p.Ala639= p.A639= ENST00000531901 20/20 NA NA NA NA NA NA EYA4,synonymous_variant,p.Ala633=,ENST00000355286,NM_004100.5;EYA4,synonymous_variant,p.Ala633=,ENST00000355167,NM_172105.3;EYA4,synonymous_variant,p.Ala610=,ENST00000431403,NM_001370459.1,NM_172103.3;EYA4,synonymous_variant,p.Ala639=,ENST00000531901,NM_001301013.1;EYA4,synonymous_variant,p.Ala610=,ENST00000525849,NM_001370458.1;EYA4,synonymous_variant,p.Ala579=,ENST00000452339,NM_001301012.1;EYA4,intron_variant,,ENST00000430974,;TARID,intron_variant,,ENST00000607033,;TARID,intron_variant,,ENST00000666537,; G ENSG00000112319 ENST00000531901 Transcript synonymous_variant 2146/2892 1917/1938 639/645 A gcA/gcG 1 NA 1 EYA4 HGNC HGNC:3522 protein_coding YES CCDS75521.1 ENSP00000432770 F2Z2Y1.71 UPI0001AE72E3 NM_001301013.1 20/20 Gene3D:3.40.50.12350,PANTHER:PTHR10190,PANTHER:PTHR10190:SF17,SFLD:SFLDG01129,SFLD:SFLDS00003,TIGRFAM:TIGR01658,CDD:cd02601 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 2 NA NA 1 . CAC . 1650.6 NA NA NA NA NA NA NA NA NA 133528784 IFNGR1 3459 . GRCh38 chr6 137198368 137198369 + Frame_Shift_Del DEL CT CT - rs780346130 NA HCI-EC-23 NORMAL CT CT NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1132_1133del p.Ser378PhefsTer6 p.S378Ffs*6 ENST00000367739 7/7 NA NA NA NA NA NA IFNGR1,frameshift_variant,p.Ser368PhefsTer6,ENST00000646898,;IFNGR1,frameshift_variant,p.Ser337PhefsTer6,ENST00000644894,NM_001363527.1;IFNGR1,frameshift_variant,p.Ser368PhefsTer6,ENST00000646036,NM_001363526.1;IFNGR1,frameshift_variant,p.Ser359PhefsTer6,ENST00000642390,;IFNGR1,frameshift_variant,p.Ser378PhefsTer6,ENST00000367739,NM_000416.3;IFNGR1,frameshift_variant,p.Ser337PhefsTer6,ENST00000647124,;IFNGR1,frameshift_variant,p.Ser337PhefsTer6,ENST00000645753,;IFNGR1,3_prime_UTR_variant,,ENST00000643119,;IFNGR1,3_prime_UTR_variant,,ENST00000645045,; - ENSG00000027697 ENST00000367739 Transcript frameshift_variant 1190-1191/2074 1132-1133/1470 378/489 S/X AGt/t rs780346130 1 NA -1 IFNGR1 HGNC HGNC:5439 protein_coding YES CCDS5185.1 ENSP00000356713 P15260.218 A0A0S2Z3Y2.27 UPI000002CE40 NM_000416.3 7/7 Low_complexity_(Seg):seg,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite,PANTHER:PTHR20859,PANTHER:PTHR20859:SF5 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 NA NA 1 . AACTC . 5526.6 3.988e-06 NA 2.898e-05 NA NA NA NA NA NA 137198367 CCDC28A 25901 . GRCh38 chr6 138776193 138776193 + Frame_Shift_Del DEL A A - rs756347761 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.80del p.Asn27MetfsTer5 p.N27Mfs*5 ENST00000617445 2/6 NA NA NA NA NA NA CCDC28A,frameshift_variant,p.Asn27MetfsTer5,ENST00000617445,NM_015439.3;CCDC28A-AS1,upstream_gene_variant,,ENST00000615663,;CCDC28A-AS1,upstream_gene_variant,,ENST00000624173,; - ENSG00000024862 ENST00000617445 Transcript frameshift_variant 249/1247 73/555 25/184 K/X Aaa/aa rs756347761 1 NA 1 CCDC28A HGNC HGNC:21098 protein_coding YES ENSP00000482946 B4DUJ5.62 UPI00005A6F1E NM_015439.3 2/6 MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite,PANTHER:PTHR13400,PANTHER:PTHR13400:SF3 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 7 NA NA . CCAA . 2511.6 NA NA NA NA NA NA NA NA NA 138776192 HECA 51696 . GRCh38 chr6 139135569 139135586 + In_Frame_Del DEL CGGGCGCCGGAGGCGCGG CGGGCGCCGGAGGCGCGG - rs1230298977 NA HCI-EC-23 NORMAL CGGGCGCCGGAGGCGCGG CGGGCGCCGGAGGCGCGG NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.191_208del p.Ala64_Ala69del p.A64_A69del ENST00000367658 1/4 NA NA NA NA NA NA HECA,inframe_deletion,p.Ala64_Ala69del,ENST00000367658,NM_016217.3;,regulatory_region_variant,,ENSR00000203833,; - ENSG00000112406 ENST00000367658 Transcript inframe_deletion 490-507/5646 173-190/1632 58-64/543 PGAGGAA/P cCGGGCGCCGGAGGCGCGGcg/ccg rs1230298977 1 NA 1 HECA HGNC HGNC:21041 protein_coding YES CCDS5194.1 ENSP00000356630 Q9UBI9.126 UPI000006D0F2 NM_016217.3 1/4 PANTHER:PTHR13425,PANTHER:PTHR13425:SF3,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 deletion 1 18 NA NA . GCCGGGCGCCGGAGGCGCGGC . 112.6 NA NA NA NA NA NA NA NA NA 139135568 PHACTR2 9749 . GRCh38 chr6 143712058 143712058 + Missense_Mutation SNP C C A NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.89C>A p.Pro30His p.P30H ENST00000440869 2/13 NA NA NA NA NA NA PHACTR2,missense_variant,p.Pro19His,ENST00000427704,NM_014721.3;PHACTR2,missense_variant,p.Pro30His,ENST00000367582,NM_001100165.2;PHACTR2,missense_variant,p.Pro30His,ENST00000440869,NM_001100164.2;PHACTR2,missense_variant,p.Pro87His,ENST00000367584,;PHACTR2,missense_variant,p.Pro19His,ENST00000305766,NM_001100166.2;PHACTR2,missense_variant,p.Pro30His,ENST00000397980,;PHACTR2,missense_variant,p.Pro30His,ENST00000451827,;PHACTR2,intron_variant,,ENST00000542769,;PHACTR2,non_coding_transcript_exon_variant,,ENST00000402863,;PHACTR2,non_coding_transcript_exon_variant,,ENST00000545919,; A ENSG00000112419 ENST00000440869 Transcript missense_variant 288/2569 89/1938 30/645 P/H cCc/cAc COSV99991331 1 NA 1 PHACTR2 HGNC HGNC:20956 protein_coding YES CCDS47493.1 ENSP00000417038 O75167.140 UPI000020E355 NM_001100164.2 tolerated(0.06) probably_damaging(0.997) 2/13 PANTHER:PTHR12751,PANTHER:PTHR12751:SF5,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA 1 NA NA NA NA MODERATE 1 SNV 2 NA 1 NA NA . CCC . 636.6 NA NA NA NA NA NA NA NA NA 143712058 LTV1 84946 . GRCh38 chr6 143863282 143863282 + Missense_Mutation SNP G G A rs201630595 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1313G>A p.Arg438His p.R438H ENST00000367576 10/11 NA NA NA NA NA NA LTV1,missense_variant,p.Arg438His,ENST00000367576,NM_001329953.1,NM_032860.5;ZC2HC1B,upstream_gene_variant,,ENST00000237275,NM_001013623.3;ZC2HC1B,upstream_gene_variant,,ENST00000539295,;AL049844.3,intron_variant,,ENST00000454207,;AL049844.2,upstream_gene_variant,,ENST00000604280,; A ENSG00000135521 ENST00000367576 Transcript missense_variant 1453/1853 1313/1428 438/475 R/H cGc/cAc rs201630595,COSV52786838 1 NA 1 LTV1 HGNC HGNC:21173 protein_coding YES CCDS5201.1 ENSP00000356548 Q96GA3.146 UPI0000039EA5 NM_001329953.1,NM_032860.5 deleterious(0) probably_damaging(0.996) 10/11 PDB-ENSP_mappings:6g18.t,PDB-ENSP_mappings:6g4s.t,PDB-ENSP_mappings:6g51.t,PDB-ENSP_mappings:6g53.t,Low_complexity_(Seg):seg,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite,PANTHER:PTHR21531:SF0,PANTHER:PTHR21531,Pfam:PF04180 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 1 NA 0,1 NA NA . CGC . 1834.6 6.845e-05 NA 0.0002911 NA NA NA 3.559e-05 0.0001656 6.619e-05 143863282 GRM1 2911 . GRCh38 chr6 146029958 146029958 + Frame_Shift_Del DEL C C - rs1207726214 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.446del p.Pro149GlnfsTer11 p.P149Qfs*11 ENST00000282753 1/8 NA NA NA NA NA NA GRM1,frameshift_variant,p.Pro149GlnfsTer11,ENST00000282753,NM_001278064.2;GRM1,frameshift_variant,p.Pro149GlnfsTer11,ENST00000492807,NM_001278065.2,NM_001278066.1;GRM1,frameshift_variant,p.Pro149GlnfsTer11,ENST00000361719,;GRM1,frameshift_variant,p.Pro149GlnfsTer11,ENST00000355289,NM_001278067.1;GRM1,frameshift_variant,p.Pro149GlnfsTer11,ENST00000507907,;GRM1,non_coding_transcript_exon_variant,,ENST00000502405,;GRM1,non_coding_transcript_exon_variant,,ENST00000507005,; - ENSG00000152822 ENST00000282753 Transcript frameshift_variant 897/6846 441/3585 147/1194 L/X ctC/ct rs1207726214,COSV51123015,COSV99267293 1 NA 1 GRM1 HGNC HGNC:4593 protein_coding YES CCDS5209.1 ENSP00000282753 Q13255.188 UPI000013DCFD NM_001278064.2 1/8 Gene3D:3.40.50.2300,PDB-ENSP_mappings:3ks9.A,PDB-ENSP_mappings:3ks9.B,Pfam:PF01094,Prints:PR01051,PANTHER:PTHR24060,PANTHER:PTHR24060:SF29,Superfamily:SSF53822,CDD:cd06374 NA NA NA NA NA NA NA NA NA 0,1,1 NA NA NA NA HIGH 1 deletion 1 5 0,1,1 NA 1 . CTCC . 4167.6 3.978e-06 NA 2.891e-05 NA NA NA NA NA NA 146029957 ZC3H12D 340152 . GRCh38 chr6 149456666 149456666 + Missense_Mutation SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.680G>A p.Arg227Gln p.R227Q ENST00000409806 4/6 NA NA NA NA NA NA ZC3H12D,missense_variant,p.Arg227Gln,ENST00000409806,NM_207360.3;ZC3H12D,missense_variant,p.Arg69Gln,ENST00000458251,;ZC3H12D,downstream_gene_variant,,ENST00000409948,;,regulatory_region_variant,,ENSR00000809218,; T ENSG00000178199 ENST00000409806 Transcript missense_variant,splice_region_variant 952/5744 680/1584 227/527 R/Q cGg/cAg 1 NA -1 ZC3H12D HGNC HGNC:21175 protein_coding YES CCDS47500.2 ENSP00000386616 A2A288.105 UPI00002377F7 NM_207360.3 deleterious(0) probably_damaging(0.937) 4/6 Gene3D:3.40.50.11980,Pfam:PF11977,PANTHER:PTHR12876,PANTHER:PTHR12876:SF11 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CCG . 2945.6 NA NA NA NA NA NA NA NA NA 149456666 MYCT1 80177 . GRCh38 chr6 152721937 152721937 + Missense_Mutation SNP G G A rs1456402373 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.392G>A p.Cys131Tyr p.C131Y ENST00000367245 2/2 NA NA NA NA NA NA MYCT1,missense_variant,p.Cys131Tyr,ENST00000367245,NM_025107.2;MYCT1,missense_variant,p.Cys112Tyr,ENST00000532295,NM_001371624.1,NM_001371625.1,NM_001371626.1;MYCT1,intron_variant,,ENST00000529453,;,regulatory_region_variant,,ENSR00001118553,; A ENSG00000120279 ENST00000367245 Transcript missense_variant 400/3030 392/708 131/235 C/Y tGt/tAt rs1456402373 1 NA 1 MYCT1 HGNC HGNC:23172 protein_coding YES CCDS5239.1 ENSP00000356214 Q8N699.113 UPI0000073EDB NM_025107.2 tolerated(0.58) benign(0.009) 2/2 PANTHER:PTHR14869,Pfam:PF15179 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . TGT . 3723.6 NA NA NA NA NA NA NA NA NA 152721937 TIAM2 26230 . GRCh38 chr6 155240682 155240682 + Silent SNP T T C rs138836174 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3321T>C p.Leu1107= p.L1107= ENST00000529824 13/25 NA NA NA NA NA NA TIAM2,synonymous_variant,p.Leu1107=,ENST00000461783,NM_012454.3;TIAM2,synonymous_variant,p.Leu1131=,ENST00000360366,;TIAM2,synonymous_variant,p.Leu1107=,ENST00000529824,;TIAM2,synonymous_variant,p.Leu1107=,ENST00000528535,;TIAM2,synonymous_variant,p.Leu443=,ENST00000528391,;TIAM2,synonymous_variant,p.Leu419=,ENST00000456877,;TIAM2,synonymous_variant,p.Leu32=,ENST00000275246,NM_001010927.3;TIAM2,synonymous_variant,p.Leu45=,ENST00000462408,;TIAM2,3_prime_UTR_variant,,ENST00000543712,;TIAM2,non_coding_transcript_exon_variant,,ENST00000546145,; C ENSG00000146426 ENST00000529824 Transcript synonymous_variant 3321/5262 3321/5193 1107/1730 L ctT/ctC rs138836174 1 NA 1 TIAM2 HGNC HGNC:11806 protein_coding YES ENSP00000433348 Q8IVF5.145 UPI0001AE72E6 13/25 Superfamily:SSF48065,SMART:SM00325,Gene3D:1.20.900.10,Pfam:PF00621,PANTHER:PTHR46001,PANTHER:PTHR46001:SF5,CDD:cd00160,PROSITE_profiles:PS50010 NA NA NA NA NA NA NA NA 0.0001163 NA NA NA NA LOW 1 SNV 5 NA NA NA . TTG . 6089.6 4e-06 NA NA NA NA NA 8.818e-06 NA NA 155240682 ARID1B 57492 . GRCh38 chr6 156778978 156778979 + In_Frame_Ins INS - - AGCAGCAGG novel NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1300_1301insCAGCAGGAG p.Ala433_Gly434insAlaAlaGly p.A433_G434insAAG ENST00000636930 1/20 NA NA NA NA NA NA ARID1B,inframe_insertion,p.Ala433_Gly434insAlaAlaGly,ENST00000346085,NM_001371656.1,NM_001374820.1;ARID1B,inframe_insertion,p.Ala433_Gly434insAlaAlaGly,ENST00000636930,NM_001374828.1;ARID1B,inframe_insertion,p.Ala350_Gly351insAlaAlaGly,ENST00000647938,;ARID1B,inframe_insertion,p.Ala350_Gly351insAlaAlaGly,ENST00000350026,NM_017519.3;ARID1B,inframe_insertion,p.Ala347_Gly348insAlaAlaGly,ENST00000674298,;ARID1B,upstream_gene_variant,,ENST00000414678,;ARID1B,upstream_gene_variant,,ENST00000494260,;ARID1B,upstream_gene_variant,,ENST00000636607,;ARID1B,upstream_gene_variant,,ENST00000636748,;ARID1B,upstream_gene_variant,,ENST00000638000,;AL355297.3,upstream_gene_variant,,ENST00000603191,;AL355297.2,upstream_gene_variant,,ENST00000604082,;AL355297.1,downstream_gene_variant,,ENST00000604792,;MIR4466,downstream_gene_variant,,ENST00000606121,;ARID1B,non_coding_transcript_exon_variant,,ENST00000674190,;ARID1B,upstream_gene_variant,,ENST00000637910,;,regulatory_region_variant,,ENSR00000205766,; AGCAGCAGG ENSG00000049618 ENST00000636930 Transcript inframe_insertion 1601-1602/10310 1298-1299/7119 433/2372 A/AAAG gca/gcAGCAGCAGGa 1 NA 1 ARID1B HGNC HGNC:18040 protein_coding YES ENSP00000490491 Q8NFD5.176 UPI00125CB504 NM_001374828.1 1/20 PANTHER:PTHR12656,PANTHER:PTHR12656:SF11,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 insertion 2 2 NA 1 . GCA . 54.64 NA NA NA NA NA NA NA NA NA 156778978 ARID1B 57492 . GRCh38 chr6 156778985 156778985 + Silent SNP C C A rs1417033247 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1305C>A p.Gly435= p.G435= ENST00000636930 1/20 NA NA NA NA NA NA ARID1B,synonymous_variant,p.Gly435=,ENST00000346085,NM_001371656.1,NM_001374820.1;ARID1B,synonymous_variant,p.Gly435=,ENST00000636930,NM_001374828.1;ARID1B,synonymous_variant,p.Gly352=,ENST00000647938,;ARID1B,synonymous_variant,p.Gly352=,ENST00000350026,NM_017519.3;ARID1B,synonymous_variant,p.Gly349=,ENST00000674298,;ARID1B,upstream_gene_variant,,ENST00000414678,;ARID1B,upstream_gene_variant,,ENST00000494260,;ARID1B,upstream_gene_variant,,ENST00000636607,;ARID1B,upstream_gene_variant,,ENST00000636748,;ARID1B,upstream_gene_variant,,ENST00000638000,;AL355297.3,upstream_gene_variant,,ENST00000603191,;AL355297.2,upstream_gene_variant,,ENST00000604082,;AL355297.1,downstream_gene_variant,,ENST00000604792,;MIR4466,downstream_gene_variant,,ENST00000606121,;ARID1B,non_coding_transcript_exon_variant,,ENST00000674190,;ARID1B,upstream_gene_variant,,ENST00000637910,;,regulatory_region_variant,,ENSR00000205766,; A ENSG00000049618 ENST00000636930 Transcript synonymous_variant 1608/10310 1305/7119 435/2372 G ggC/ggA rs1417033247 1 NA 1 ARID1B HGNC HGNC:18040 protein_coding YES ENSP00000490491 Q8NFD5.176 UPI00125CB504 NM_001374828.1 1/20 PANTHER:PTHR12656,PANTHER:PTHR12656:SF11,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 2 NA NA 1 . GCG . 48.6 NA NA NA NA NA NA NA NA NA 156778985 ARID1B 57492 . GRCh38 chr6 156779007 156779007 + Missense_Mutation SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1327G>A p.Gly443Ser p.G443S ENST00000636930 1/20 NA NA NA NA NA NA ARID1B,missense_variant,p.Gly443Ser,ENST00000346085,NM_001371656.1,NM_001374820.1;ARID1B,missense_variant,p.Gly443Ser,ENST00000636930,NM_001374828.1;ARID1B,missense_variant,p.Gly360Ser,ENST00000647938,;ARID1B,missense_variant,p.Gly360Ser,ENST00000350026,NM_017519.3;ARID1B,missense_variant,p.Gly357Ser,ENST00000674298,;ARID1B,upstream_gene_variant,,ENST00000414678,;ARID1B,upstream_gene_variant,,ENST00000494260,;ARID1B,upstream_gene_variant,,ENST00000636607,;ARID1B,upstream_gene_variant,,ENST00000636748,;ARID1B,upstream_gene_variant,,ENST00000638000,;AL355297.3,upstream_gene_variant,,ENST00000603191,;AL355297.2,upstream_gene_variant,,ENST00000604082,;AL355297.1,downstream_gene_variant,,ENST00000604792,;MIR4466,downstream_gene_variant,,ENST00000606121,;ARID1B,non_coding_transcript_exon_variant,,ENST00000674190,;ARID1B,upstream_gene_variant,,ENST00000637910,;,regulatory_region_variant,,ENSR00000205766,; A ENSG00000049618 ENST00000636930 Transcript missense_variant 1630/10310 1327/7119 443/2372 G/S Ggc/Agc 1 NA 1 ARID1B HGNC HGNC:18040 protein_coding YES ENSP00000490491 Q8NFD5.176 UPI00125CB504 NM_001374828.1 tolerated_low_confidence(0.42) benign(0) 1/20 PANTHER:PTHR12656,PANTHER:PTHR12656:SF11,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 2 NA NA 1 . GGG . 87.6 NA NA NA NA NA NA NA NA NA 156779007 ARID1B 57492 . GRCh38 chr6 156779042 156779042 + Silent SNP C C G novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1362C>G p.Pro454= p.P454= ENST00000636930 1/20 NA NA NA NA NA NA ARID1B,synonymous_variant,p.Pro454=,ENST00000346085,NM_001371656.1,NM_001374820.1;ARID1B,synonymous_variant,p.Pro454=,ENST00000636930,NM_001374828.1;ARID1B,synonymous_variant,p.Pro371=,ENST00000647938,;ARID1B,synonymous_variant,p.Pro371=,ENST00000350026,NM_017519.3;ARID1B,synonymous_variant,p.Pro368=,ENST00000674298,;ARID1B,upstream_gene_variant,,ENST00000414678,;ARID1B,upstream_gene_variant,,ENST00000494260,;ARID1B,upstream_gene_variant,,ENST00000636607,;ARID1B,upstream_gene_variant,,ENST00000636748,;ARID1B,upstream_gene_variant,,ENST00000638000,;AL355297.3,upstream_gene_variant,,ENST00000603191,;AL355297.2,upstream_gene_variant,,ENST00000604082,;AL355297.1,downstream_gene_variant,,ENST00000604792,;MIR4466,downstream_gene_variant,,ENST00000606121,;ARID1B,non_coding_transcript_exon_variant,,ENST00000674190,;ARID1B,upstream_gene_variant,,ENST00000637910,;,regulatory_region_variant,,ENSR00000205766,; G ENSG00000049618 ENST00000636930 Transcript synonymous_variant 1665/10310 1362/7119 454/2372 P ccC/ccG 1 NA 1 ARID1B HGNC HGNC:18040 protein_coding YES ENSP00000490491 Q8NFD5.176 UPI00125CB504 NM_001374828.1 1/20 PANTHER:PTHR12656,PANTHER:PTHR12656:SF11 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 2 NA NA 1 . CCC . 79.6 NA NA NA NA NA NA NA NA NA 156779042 ARID1B 57492 . GRCh38 chr6 156779168 156779168 + Frame_Shift_Del DEL G G - rs1417035592 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1492del p.Ala498ProfsTer15 p.A498Pfs*15 ENST00000636930 1/20 NA NA NA NA NA NA ARID1B,frameshift_variant,p.Ala498ProfsTer15,ENST00000346085,NM_001371656.1,NM_001374820.1;ARID1B,frameshift_variant,p.Ala498ProfsTer15,ENST00000636930,NM_001374828.1;ARID1B,frameshift_variant,p.Ala415ProfsTer15,ENST00000647938,;ARID1B,frameshift_variant,p.Ala415ProfsTer15,ENST00000350026,NM_017519.3;ARID1B,frameshift_variant,p.Ala412ProfsTer15,ENST00000674298,;ARID1B,upstream_gene_variant,,ENST00000414678,;ARID1B,upstream_gene_variant,,ENST00000494260,;ARID1B,upstream_gene_variant,,ENST00000636607,;ARID1B,upstream_gene_variant,,ENST00000636748,;ARID1B,upstream_gene_variant,,ENST00000638000,;AL355297.3,upstream_gene_variant,,ENST00000603191,;AL355297.2,upstream_gene_variant,,ENST00000604082,;AL355297.1,downstream_gene_variant,,ENST00000604792,;MIR4466,downstream_gene_variant,,ENST00000606121,;ARID1B,non_coding_transcript_exon_variant,,ENST00000674190,;ARID1B,upstream_gene_variant,,ENST00000637910,;,regulatory_region_variant,,ENSR00000205766,; - ENSG00000049618 ENST00000636930 Transcript frameshift_variant 1791/10310 1488/7119 496/2372 S/X tcG/tc rs1417035592 1 NA 1 ARID1B HGNC HGNC:18040 protein_coding YES ENSP00000490491 Q8NFD5.176 UPI00125CB504 NM_001374828.1 1/20 PANTHER:PTHR12656,PANTHER:PTHR12656:SF11 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 2 4 NA 1 . TCGG . 1534.6 9.702e-06 NA NA 0.000173 NA NA NA NA NA 156779167 IGF2R 3482 . GRCh38 chr6 159969299 159969299 + Missense_Mutation SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.53G>A p.Arg18His p.R18H ENST00000356956 1/48 NA NA NA NA NA NA IGF2R,missense_variant,p.Arg18His,ENST00000356956,NM_000876.4;IGF2R,missense_variant,p.Arg18His,ENST00000677704,;IGF2R,missense_variant,p.Arg18His,ENST00000676781,;,regulatory_region_variant,,ENSR00000206314,; A ENSG00000197081 ENST00000356956 Transcript missense_variant 218/14061 53/7476 18/2491 R/H cGc/cAc 1 NA 1 IGF2R HGNC HGNC:5467 protein_coding YES CCDS5273.1 ENSP00000349437 P11717.222 UPI0000072478 NM_000876.4 tolerated_low_confidence(0.45) possibly_damaging(0.908) 1/48 Cleavage_site_(Signalp):SignalP-noTM NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . CGC . 233.6 NA NA NA NA NA NA NA NA NA 159969299 IGF2R 3482 . GRCh38 chr6 160073963 160073963 + Silent SNP T T C novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.5154T>C p.Asp1718= p.D1718= ENST00000356956 35/48 NA NA NA NA NA NA IGF2R,synonymous_variant,p.Asp1718=,ENST00000356956,NM_000876.4;IGF2R,3_prime_UTR_variant,,ENST00000677704,;IGF2R,3_prime_UTR_variant,,ENST00000676781,;IGF2R,non_coding_transcript_exon_variant,,ENST00000650503,;IGF2R,non_coding_transcript_exon_variant,,ENST00000487607,; C ENSG00000197081 ENST00000356956 Transcript synonymous_variant 5319/14061 5154/7476 1718/2491 D gaT/gaC 1 NA 1 IGF2R HGNC HGNC:5467 protein_coding YES CCDS5273.1 ENSP00000349437 P11717.222 UPI0000072478 NM_000876.4 35/48 Gene3D:2.70.130.10,PDB-ENSP_mappings:2v5n.A,PDB-ENSP_mappings:2v5o.A,PDB-ENSP_mappings:2v5p.A,PDB-ENSP_mappings:2v5p.B,Pfam:PF00878,PANTHER:PTHR15071,PANTHER:PTHR15071:SF17,SMART:SM01404,Superfamily:SSF50911 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . ATG . 1330.6 NA NA NA NA NA NA NA NA NA 160073963 IGF2R 3482 . GRCh38 chr6 160079776 160079776 + Missense_Mutation SNP G G A rs149633151 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.5675G>A p.Arg1892His p.R1892H ENST00000356956 38/48 NA NA NA NA NA NA IGF2R,missense_variant,p.Arg1892His,ENST00000356956,NM_000876.4;IGF2R,3_prime_UTR_variant,,ENST00000677704,;IGF2R,3_prime_UTR_variant,,ENST00000676781,;IGF2R,non_coding_transcript_exon_variant,,ENST00000650503,; A ENSG00000197081 ENST00000356956 Transcript missense_variant 5840/14061 5675/7476 1892/2491 R/H cGt/cAt rs149633151 1 NA 1 IGF2R HGNC HGNC:5467 protein_coding YES CCDS5273.1 ENSP00000349437 P11717.222 UPI0000072478 NM_000876.4 tolerated(0.2) benign(0.297) 38/48 Gene3D:2.70.130.10,PDB-ENSP_mappings:2v5o.A,PDB-ENSP_mappings:2v5p.A,PDB-ENSP_mappings:2v5p.B,Pfam:PF00878,PANTHER:PTHR15071,PANTHER:PTHR15071:SF17,SMART:SM01404,Superfamily:SSF50911 2e-04 NA NA NA NA NA 0.001 NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . CGT . 3348.6 1.987e-05 NA NA NA NA NA 2.548e-05 NA 9.439e-05 160079776 RPS6KA2 6196 . GRCh38 chr6 166430611 166430611 + Missense_Mutation SNP C C T rs370360100 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1498G>A p.Val500Ile p.V500I ENST00000510118 18/23 NA NA NA NA NA NA RPS6KA2,missense_variant,p.Val500Ile,ENST00000510118,NM_001318936.2;RPS6KA2,missense_variant,p.Val475Ile,ENST00000265678,NM_021135.6;RPS6KA2,missense_variant,p.Val483Ile,ENST00000503859,NM_001006932.3;RPS6KA2,missense_variant,p.Val386Ile,ENST00000481261,NM_001318937.2,NM_001318938.1;RPS6KA2,missense_variant,p.Val386Ile,ENST00000405189,; T ENSG00000071242 ENST00000510118 Transcript missense_variant,splice_region_variant 1839/5992 1498/2277 500/758 V/I Gtc/Atc rs370360100 1 NA -1 RPS6KA2 HGNC HGNC:10431 protein_coding YES CCDS83148.1 ENSP00000422435 F2Z2J1.78 UPI000046FE06 NM_001318936.2 tolerated(0.08) possibly_damaging(0.449) 18/23 PROSITE_profiles:PS50011,CDD:cd14178,PANTHER:PTHR24351:SF58,PANTHER:PTHR24351,Gene3D:3.30.200.20,Gene3D:1.10.510.10,PIRSF:PIRSF000606,Pfam:PF00069,SMART:SM00220,Superfamily:SSF56112 NA NA NA NA NA NA NA NA 0.0001163 NA NA NA NA MODERATE 1 SNV 2 NA NA NA . ACC . 3329.6 8.036e-06 NA NA NA NA NA 1.778e-05 NA NA 166430611 FRMD1 79981 . GRCh38 chr6 168065044 168065044 + Missense_Mutation SNP G G A rs533764300 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.601C>T p.Arg201Trp p.R201W ENST00000646385 7/14 NA NA NA NA NA NA FRMD1,missense_variant,p.Arg201Trp,ENST00000646385,;FRMD1,missense_variant,p.Arg132Trp,ENST00000644440,;FRMD1,missense_variant,p.Arg159Trp,ENST00000283309,NM_024919.6;FRMD1,missense_variant,p.Arg91Trp,ENST00000440994,NM_001122841.3;FRMD1,missense_variant,p.Arg71Trp,ENST00000336070,;FRMD1,downstream_gene_variant,,ENST00000511714,;FRMD1,non_coding_transcript_exon_variant,,ENST00000432403,;FRMD1,3_prime_UTR_variant,,ENST00000468647,;FRMD1,3_prime_UTR_variant,,ENST00000509157,;FRMD1,3_prime_UTR_variant,,ENST00000506415,;FRMD1,non_coding_transcript_exon_variant,,ENST00000358587,; A ENSG00000153303 ENST00000646385 Transcript missense_variant 967/6142 601/1845 201/614 R/W Cgg/Tgg rs533764300,COSV51964551 1 NA -1 FRMD1 HGNC HGNC:21240 protein_coding YES ENSP00000494166 A0A2R8Y4L9.13 UPI000387D0D1 deleterious(0.02) benign(0.139) 7/14 PROSITE_profiles:PS50057,CDD:cd14473,PANTHER:PTHR13429,PANTHER:PTHR13429:SF7,Pfam:PF00373,Gene3D:1.20.80.10,SMART:SM00295,Superfamily:SSF47031 4e-04 8e-04 NA NA NA NA 0.001 NA NA 0,1 NA NA NA NA MODERATE 1 SNV NA NA 0,1 NA NA . CGT . 4118.6 4.483e-05 6.208e-05 5.83e-05 NA NA NA 5.396e-05 0.0001665 3.302e-05 168065044 FRMD1 79981 . GRCh38 chr6 168066811 168066811 + Silent SNP G G A rs1417653155 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.531C>T p.Ala177= p.A177= ENST00000646385 6/14 NA NA NA NA NA NA FRMD1,synonymous_variant,p.Ala177=,ENST00000646385,;FRMD1,synonymous_variant,p.Ala108=,ENST00000644440,;FRMD1,synonymous_variant,p.Ala135=,ENST00000283309,NM_024919.6;FRMD1,synonymous_variant,p.Ala67=,ENST00000440994,NM_001122841.3;FRMD1,synonymous_variant,p.Ala47=,ENST00000336070,;FRMD1,synonymous_variant,p.Ala177=,ENST00000511714,;FRMD1,upstream_gene_variant,,ENST00000432403,;FRMD1,3_prime_UTR_variant,,ENST00000468647,;FRMD1,3_prime_UTR_variant,,ENST00000509157,;FRMD1,3_prime_UTR_variant,,ENST00000506415,;FRMD1,non_coding_transcript_exon_variant,,ENST00000358587,; A ENSG00000153303 ENST00000646385 Transcript synonymous_variant 897/6142 531/1845 177/614 A gcC/gcT rs1417653155,COSV51961076 1 NA -1 FRMD1 HGNC HGNC:21240 protein_coding YES ENSP00000494166 A0A2R8Y4L9.13 UPI000387D0D1 6/14 PROSITE_profiles:PS50057,CDD:cd17197,PANTHER:PTHR13429,PANTHER:PTHR13429:SF7,SMART:SM00295,Superfamily:SSF54236 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA LOW 1 SNV NA NA 0,1 NA NA . GGG . 4745.6 3.99e-06 NA NA NA 5.452e-05 NA NA NA NA 168066811 TBP 6908 . GRCh38 chr6 170561967 170561982 + Frame_Shift_Del DEL GCAGCAGCAGCAGCAG GCAGCAGCAGCAGCAG - novel NA HCI-EC-23 NORMAL GCAGCAGCAGCAGCAG GCAGCAGCAGCAGCAG NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.231_246del p.Gln77HisfsTer62 p.Q77Hfs*62 ENST00000230354 3/8 NA NA NA NA NA NA TBP,frameshift_variant,p.Gln77HisfsTer62,ENST00000230354,;TBP,frameshift_variant,p.Gln77HisfsTer62,ENST00000392092,NM_003194.5;TBP,frameshift_variant,p.Gln57HisfsTer62,ENST00000540980,NM_001172085.1;TBP,frameshift_variant,p.Gln77HisfsTer62,ENST00000421512,;TBP,frameshift_variant,p.Gln77HisfsTer62,ENST00000423353,;TBP,intron_variant,,ENST00000616883,;TBP,frameshift_variant,p.Gln77HisfsTer62,ENST00000636632,; - ENSG00000112592 ENST00000230354 Transcript frameshift_variant 467-482/1861 231-246/1020 77-82/339 QQQQQQ/X caGCAGCAGCAGCAGCAG/ca 1 NA 1 TBP HGNC HGNC:11588 protein_coding YES CCDS5315.1 ENSP00000230354 P20226.229 UPI0000136C3F 3/8 PDB-ENSP_mappings:5fur.A,PDB-ENSP_mappings:5iy6.P,PDB-ENSP_mappings:5iy7.P,PDB-ENSP_mappings:5iy8.P,PDB-ENSP_mappings:5iy9.P,PDB-ENSP_mappings:5iya.P,PDB-ENSP_mappings:5iyb.P,PDB-ENSP_mappings:5iyc.P,PDB-ENSP_mappings:5iyd.P,PDB-ENSP_mappings:6mzd.T,PDB-ENSP_mappings:6mzl.T,PDB-ENSP_mappings:6mzm.T,PDB-ENSP_mappings:6o9l.P,Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,PANTHER:PTHR10126:SF44,PANTHER:PTHR10126 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 NA NA 1 . CAGCAGCAGCAGCAGCAGC . 2436.64 NA NA NA NA NA NA NA NA NA 170561966 PRKAR1B 5575 . GRCh38 chr7 680644 680644 + Frame_Shift_Del DEL G G - rs764069617 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.260del p.Pro87ArgfsTer5 p.P87Rfs*5 ENST00000406797 3/11 NA NA NA NA NA NA PRKAR1B,frameshift_variant,p.Pro87ArgfsTer5,ENST00000406797,NM_001164761.1;PRKAR1B,frameshift_variant,p.Pro87ArgfsTer5,ENST00000544935,NM_001164759.1,NM_001164762.1;PRKAR1B,frameshift_variant,p.Pro87ArgfsTer5,ENST00000537384,NM_001164760.2;PRKAR1B,frameshift_variant,p.Pro87ArgfsTer5,ENST00000360274,NM_002735.2;PRKAR1B,frameshift_variant,p.Pro87ArgfsTer5,ENST00000403562,NM_001164758.1;PRKAR1B,frameshift_variant,p.Pro87ArgfsTer5,ENST00000430040,;PRKAR1B,frameshift_variant,p.Pro32ArgfsTer5,ENST00000414568,;PRKAR1B,frameshift_variant,p.Pro87ArgfsTer5,ENST00000417852,;PRKAR1B,frameshift_variant,p.Pro87ArgfsTer5,ENST00000456696,; - ENSG00000188191 ENST00000406797 Transcript frameshift_variant 435/2553 260/1146 87/381 P/X cCg/cg rs764069617 1 NA -1 PRKAR1B HGNC HGNC:9390 protein_coding YES CCDS34579.1 ENSP00000385749 P31321.190 UPI000021C478 NM_001164761.1 3/11 PDB-ENSP_mappings:4din.B,PIRSF:PIRSF000548,PANTHER:PTHR11635,PANTHER:PTHR11635:SF126,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 NA NA 1 . TCGG . 94.6 2.027e-05 NA NA NA 0.0001114 4.698e-05 1.794e-05 NA NA 680643 INTS1 26173 . GRCh38 chr7 1499551 1499551 + Missense_Mutation SNP C C T NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.766G>A p.Ala256Thr p.A256T ENST00000404767 6/48 NA NA NA NA NA NA INTS1,missense_variant,p.Ala256Thr,ENST00000404767,NM_001080453.3;INTS1,non_coding_transcript_exon_variant,,ENST00000493531,;INTS1,upstream_gene_variant,,ENST00000496988,; T ENSG00000164880 ENST00000404767 Transcript missense_variant 874/6981 766/6573 256/2190 A/T Gcc/Acc COSV67178329 1 NA -1 INTS1 HGNC HGNC:24555 protein_coding YES CCDS47526.1 ENSP00000385722 Q8N201.131 UPI0000D7211C NM_001080453.3 deleterious(0) probably_damaging(0.974) 6/48 PANTHER:PTHR21224 NA NA NA NA NA NA NA NA NA 1 NA NA NA NA MODERATE 1 SNV 5 NA 1 NA 1 . GCC . 1754.6 NA NA NA NA NA NA NA NA NA 1499551 ELFN1 392617 . GRCh38 chr7 1745279 1745279 + Missense_Mutation SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.683G>A p.Gly228Asp p.G228D ENST00000424383 3/3 NA NA NA NA NA NA ELFN1,missense_variant,p.Gly228Asp,ENST00000424383,NM_001128636.3;ELFN1,missense_variant,p.Gly228Asp,ENST00000561626,;ELFN1-AS1,upstream_gene_variant,,ENST00000415399,;ELFN1-AS1,upstream_gene_variant,,ENST00000453348,; A ENSG00000225968 ENST00000424383 Transcript missense_variant 1170/3845 683/2487 228/828 G/D gGc/gAc 1 NA 1 ELFN1 HGNC HGNC:33154 protein_coding YES CCDS59046.1 ENSP00000456548 P0C7U0.97 UPI0000251E11 NM_001128636.3 deleterious(0) probably_damaging(1) 3/3 Gene3D:3.80.10.10,PANTHER:PTHR24373,PANTHER:PTHR24373:SF288,SMART:SM00082,Superfamily:SSF52058 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE NA SNV 5 NA NA NA . GGC . 6626.6 NA NA NA NA NA NA NA NA NA 1745279 BRAT1 221927 . GRCh38 chr7 2541353 2541353 + Silent SNP G G A rs781062954 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1266C>T p.Cys422= p.C422= ENST00000340611 9/14 NA NA NA NA NA NA BRAT1,synonymous_variant,p.Cys422=,ENST00000340611,NM_001350627.2,NM_152743.4,NM_001350626.2;BRAT1,upstream_gene_variant,,ENST00000473879,;BRAT1,non_coding_transcript_exon_variant,,ENST00000493232,;BRAT1,non_coding_transcript_exon_variant,,ENST00000469750,;BRAT1,non_coding_transcript_exon_variant,,ENST00000467558,;BRAT1,downstream_gene_variant,,ENST00000421712,; A ENSG00000106009 ENST00000340611 Transcript synonymous_variant 1320/2779 1266/2466 422/821 C tgC/tgT rs781062954 1 NA -1 BRAT1 HGNC HGNC:21701 protein_coding YES CCDS5334.1 ENSP00000339637 Q6PJG6.131 UPI00001AEB20 NM_001350627.2,NM_152743.4,NM_001350626.2 9/14 PANTHER:PTHR21331,Gene3D:1.25.10.10,Superfamily:SSF48371 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . CGC . 3876.6 2.127e-05 NA NA NA NA NA 9.364e-06 NA 0.0001322 2541353 RADIL 55698 . GRCh38 chr7 4801852 4801853 + Frame_Shift_Ins INS - - G rs767679528 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2642dup p.Gly882TrpfsTer32 p.G882Wfs*32 ENST00000399583 12/15 NA NA NA NA NA NA RADIL,frameshift_variant,p.Gly882TrpfsTer32,ENST00000399583,NM_018059.5;RADIL,3_prime_UTR_variant,,ENST00000445392,;RADIL,non_coding_transcript_exon_variant,,ENST00000473130,;RADIL,non_coding_transcript_exon_variant,,ENST00000472999,;RADIL,downstream_gene_variant,,ENST00000469399,; G ENSG00000157927 ENST00000399583 Transcript frameshift_variant 2827-2828/5736 2642-2643/3228 881/1075 P/PX cct/ccCt rs767679528 1 NA -1 RADIL HGNC HGNC:22226 protein_coding YES CCDS43544.1 ENSP00000382492 Q96JH8.150 UPI0000E0A787 NM_018059.5 12/15 MobiDB_lite:mobidb-lite,PANTHER:PTHR16027:SF3,PANTHER:PTHR16027 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 insertion 5 NA NA NA . CAG . 1783.64 2.964e-05 9.203e-05 9.702e-05 NA NA NA NA NA 7.324e-05 4801852 FBXL18 80028 . GRCh38 chr7 5501749 5501749 + Missense_Mutation SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.520C>T p.Arg174Trp p.R174W ENST00000382368 3/5 NA NA NA NA NA NA FBXL18,missense_variant,p.Arg174Trp,ENST00000382368,NM_001363441.2,NM_024963.6,NM_001321213.2,NM_001363442.2;FBXL18,missense_variant,p.Arg58Trp,ENST00000458142,;FBXL18,missense_variant,p.Arg174Trp,ENST00000453700,;FBXL18,upstream_gene_variant,,ENST00000620087,NM_001367781.1,NM_001367780.1;FBXL18,missense_variant,p.Arg174Trp,ENST00000415009,; A ENSG00000155034 ENST00000382368 Transcript missense_variant 655/8270 520/2157 174/718 R/W Cgg/Tgg 1 NA -1 FBXL18 HGNC HGNC:21874 protein_coding YES CCDS43546.1 ENSP00000371805 Q96ME1.151 A0A024R857.43 UPI000020EA59 NM_001363441.2,NM_024963.6,NM_001321213.2,NM_001363442.2 tolerated(0.17) benign(0.401) 3/5 PANTHER:PTHR16134,PANTHER:PTHR16134:SF19,Gene3D:3.80.10.10,Superfamily:SSF52047 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . CGC . 5844.6 NA NA NA NA NA NA NA NA NA 5501749 GRID2IP 392862 . GRCh38 chr7 6508105 6508105 + Silent SNP G G A NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2424C>T p.Pro808= p.P808= ENST00000457091 13/22 NA NA NA NA NA NA GRID2IP,synonymous_variant,p.Pro808=,ENST00000457091,NM_001145118.1;GRID2IP,synonymous_variant,p.Pro617=,ENST00000452113,;GRID2IP,synonymous_variant,p.Pro624=,ENST00000435185,; A ENSG00000215045 ENST00000457091 Transcript synonymous_variant 2424/3636 2424/3636 808/1211 P ccC/ccT COSV101474782 1 NA -1 GRID2IP HGNC HGNC:18464 protein_coding YES CCDS47537.1 ENSP00000397351 A4D2P6.106 UPI0001722D0B NM_001145118.1 13/22 PANTHER:PTHR45725,PANTHER:PTHR45725:SF3,Superfamily:SSF101447,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA 1 NA NA NA NA LOW 1 SNV 5 NA 1 NA NA . AGG . 729.6 NA NA NA NA NA NA NA NA NA 6508105 ZNF853 54753 . GRCh38 chr7 6622922 6622922 + Missense_Mutation SNP G G A rs1235926086 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1931G>A p.Arg644His p.R644H ENST00000457543 3/3 NA NA NA NA NA NA ZNF853,missense_variant,p.Arg644His,ENST00000457543,NM_001353546.2,NM_017560.3;,regulatory_region_variant,,ENSR00001121157,; A ENSG00000236609 ENST00000457543 Transcript missense_variant 2496/3864 1931/1980 644/659 R/H cGc/cAc rs1235926086 1 NA 1 ZNF853 HGNC HGNC:21767 protein_coding YES CCDS59048.1 ENSP00000455585 P0CG23.81 UPI00018E24EF NM_001353546.2,NM_017560.3 deleterious_low_confidence(0.01) benign(0.007) 3/3 MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 3 NA NA NA . CGC . 1678.6 NA NA NA NA NA NA NA NA NA 6622922 ZNF316 0 . GRCh38 chr7 6652974 6652974 + Missense_Mutation SNP T T C rs1474419 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1378T>C p.Ser460Pro p.S460P ENST00000382252 9/9 NA NA NA NA NA NA ZNF316,missense_variant,p.Ser460Pro,ENST00000382252,NM_001278559.2; C ENSG00000205903 ENST00000382252 Transcript missense_variant 1938/7243 1378/3015 460/1004 S/P Tcg/Ccg rs1474419 1 NA 1 ZNF316 HGNC HGNC:13843 protein_coding YES CCDS75563.1 ENSP00000477706 A6NFI3.104 UPI0000D61BFB NM_001278559.2 tolerated(1) benign(0) 9/9 Gene3D:3.30.160.60,Pfam:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,PANTHER:PTHR24408,PANTHER:PTHR24408:SF41,SMART:SM00355,Superfamily:SSF57667 NA 0.9796 0.6988 NA 0.9563 0.5626 0.909 NA NA 30595370 NA NA NA NA MODERATE 1 SNV 5 NA 1 NA NA . TTC . 10509.6 NA NA NA NA NA NA NA NA NA 6652974 MACC1 346389 . GRCh38 chr7 20159129 20159129 + Frame_Shift_Del DEL T T - rs761473889 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1232del p.Asn411ThrfsTer23 p.N411Tfs*23 ENST00000400331 5/7 NA NA NA NA NA NA MACC1,frameshift_variant,p.Asn411ThrfsTer23,ENST00000400331,NM_182762.4;MACC1,frameshift_variant,p.Asn411ThrfsTer23,ENST00000332878,;MACC1,frameshift_variant,p.Asn411ThrfsTer23,ENST00000589011,;,regulatory_region_variant,,ENSR00000325046,; - ENSG00000183742 ENST00000400331 Transcript frameshift_variant 1535/9153 1232/2559 411/852 N/X aAc/ac rs761473889,COSV60540689 1 NA -1 MACC1 HGNC HGNC:30215 protein_coding YES CCDS5369.1 ENSP00000383185 Q6ZN28.120 UPI00001B2F47 NM_182762.4 5/7 PANTHER:PTHR15603:SF1,PANTHER:PTHR15603 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA HIGH 1 deletion 2 NA 0,1 NA 1 . TGTT . 3560.6 3.991e-06 NA NA NA 5.454e-05 NA NA NA NA 20159128 ITGB8 3696 . GRCh38 chr7 20363691 20363691 + Missense_Mutation SNP T T C novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.182T>C p.Leu61Pro p.L61P ENST00000222573 2/14 NA NA NA NA NA NA ITGB8,missense_variant,p.Leu61Pro,ENST00000222573,NM_002214.3;ITGB8,5_prime_UTR_variant,,ENST00000537992,;ITGB8,non_coding_transcript_exon_variant,,ENST00000478974,;ITGB8,upstream_gene_variant,,ENST00000477859,; C ENSG00000105855 ENST00000222573 Transcript missense_variant 1089/8974 182/2310 61/769 L/P cTg/cCg 1 NA 1 ITGB8 HGNC HGNC:6163 protein_coding YES CCDS5370.1 ENSP00000222573 P26012.194 UPI000012DA14 NM_002214.3 tolerated(0.12) probably_damaging(1) 2/14 PDB-ENSP_mappings:6djp.B,PDB-ENSP_mappings:6om1.B,PDB-ENSP_mappings:6om1.D,PDB-ENSP_mappings:6om1.F,PDB-ENSP_mappings:6om1.H,PDB-ENSP_mappings:6om2.B,PDB-ENSP_mappings:6om2.D,PDB-ENSP_mappings:6uja.B,PDB-ENSP_mappings:6ujb.B,PDB-ENSP_mappings:6ujc.B,Low_complexity_(Seg):seg,PANTHER:PTHR10082:SF9,PANTHER:PTHR10082,Gene3D:3.30.1680.10,PIRSF:PIRSF002512,Pfam:PF17205,SMART:SM00187,SMART:SM00423,Superfamily:SSF103575,Prints:PR01186 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CTG . 1029.6 NA NA NA NA NA NA NA NA NA 20363691 DNAH11 8701 . GRCh38 chr7 21591237 21591237 + Missense_Mutation SNP C C T rs764257309 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2327C>T p.Thr776Met p.T776M ENST00000328843 14/83 NA NA NA NA NA NA DNAH11,missense_variant,p.Thr776Met,ENST00000409508,NM_001277115.2;DNAH11,missense_variant,p.Thr776Met,ENST00000328843,;DNAH11,missense_variant,p.Thr776Met,ENST00000620169,; T ENSG00000105877 ENST00000328843 Transcript missense_variant 2358/13917 2327/13572 776/4523 T/M aCg/aTg rs764257309,COSV60937015 1 NA 1 DNAH11 HGNC HGNC:2942 protein_coding YES ENSP00000330671 A0A0C4DFR0.39 UPI00015E0D3F deleterious(0) possibly_damaging(0.903) 14/83 Pfam:PF08385,PANTHER:PTHR45703,PANTHER:PTHR45703:SF12 NA NA NA NA NA NA NA NA NA uncertain_significance 0,1 NA NA NA NA MODERATE 1 SNV 5 NA 1,1 NA 1 . ACG . 1617.6 1.75e-05 NA NA NA 0.00012 NA 1.894e-05 NA NA 21591237 DNAH11 8701 . GRCh38 chr7 21854367 21854367 + Missense_Mutation SNP A A G rs370580628 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.11135A>G p.Tyr3712Cys p.Y3712C ENST00000328843 69/83 NA NA NA NA NA NA DNAH11,missense_variant,p.Tyr3705Cys,ENST00000409508,NM_001277115.2;DNAH11,missense_variant,p.Tyr3712Cys,ENST00000328843,;DNAH11,missense_variant,p.Tyr3712Cys,ENST00000620169,;DNAH11,non_coding_transcript_exon_variant,,ENST00000607413,;DNAH11,non_coding_transcript_exon_variant,,ENST00000421290,; G ENSG00000105877 ENST00000328843 Transcript missense_variant 11166/13917 11135/13572 3712/4523 Y/C tAc/tGc rs370580628 1 NA 1 DNAH11 HGNC HGNC:2942 protein_coding YES ENSP00000330671 A0A0C4DFR0.39 UPI00015E0D3F deleterious(0) probably_damaging(0.999) 69/83 Gene3D:1.10.8.1220,PANTHER:PTHR45703,PANTHER:PTHR45703:SF12 NA NA NA NA NA NA NA NA 0.0001222 uncertain_significance NA NA NA NA MODERATE 1 SNV 5 NA 1 NA 1 . TAC . 1973.6 3.614e-05 NA 0.000145 0.0001988 NA NA 8.86e-06 0.0001655 NA 21854367 MPP6 51678 . GRCh38 chr7 24666047 24666047 + Frame_Shift_Del DEL A A - rs757450051 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.910del p.Lys306ArgfsTer4 p.K306Rfs*4 ENST00000222644 8/12 NA NA NA NA NA NA MPP6,frameshift_variant,p.Lys306ArgfsTer4,ENST00000222644,NM_001303037.2;MPP6,frameshift_variant,p.Lys306ArgfsTer4,ENST00000396475,NM_016447.4;MPP6,frameshift_variant,p.Lys194ArgfsTer4,ENST00000409761,;MPP6,frameshift_variant,p.Lys306ArgfsTer?,ENST00000430180,;MPP6,frameshift_variant,p.Lys14ArgfsTer4,ENST00000464384,;MPP6,downstream_gene_variant,,ENST00000472674,;,regulatory_region_variant,,ENSR00000325206,; - ENSG00000105926 ENST00000222644 Transcript frameshift_variant 1054/8346 910/1623 304/540 K/X Aaa/aa rs757450051 1 NA 1 MPP6 HGNC HGNC:18167 protein_coding YES CCDS5388.1 ENSP00000222644 Q9NZW5.163 A0A024RA25.45 UPI0000001C1B NM_001303037.2 8/12 PANTHER:PTHR23122:SF45,PANTHER:PTHR23122,Gene3D:2.30.30.40,Superfamily:SSF50044 NA NA NA NA NA NA NA NA NA not_provided NA NA NA NA HIGH 1 sequence_alteration 1 NA 1 NA NA . GCAA . 2196.06 4.1e-06 NA NA NA NA 4.764e-05 NA NA NA 24666046 HOXA1 3198 . GRCh38 chr7 27094536 27094536 + Silent SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.912C>T p.Asp304= p.D304= ENST00000643460 2/2 NA NA NA NA NA NA HOXA1,synonymous_variant,p.Asp304=,ENST00000643460,NM_005522.5;HOXA1,3_prime_UTR_variant,,ENST00000355633,NM_153620.3;HOTAIRM1,upstream_gene_variant,,ENST00000425358,;HOTAIRM1,upstream_gene_variant,,ENST00000428939,;HOTAIRM1,upstream_gene_variant,,ENST00000429611,;HOTAIRM1,upstream_gene_variant,,ENST00000434063,;HOTAIRM1,upstream_gene_variant,,ENST00000495032,;AC004079.4,upstream_gene_variant,,ENST00000616712,;AC004079.3,upstream_gene_variant,,ENST00000622675,; A ENSG00000105991 ENST00000643460 Transcript synonymous_variant 1000/2543 912/1008 304/335 D gaC/gaT 1 NA -1 HOXA1 HGNC HGNC:5099 protein_coding YES CCDS5401.1 ENSP00000494260 A0A2R8Y4R9.12 UPI000013C80E NM_005522.5 2/2 MobiDB_lite:mobidb-lite,PANTHER:PTHR45946:SF3,PANTHER:PTHR45946 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW NA SNV NA NA NA 1 . CGT . 8830.6 NA NA NA NA NA NA NA NA NA 27094536 HOXA11 3207 . GRCh38 chr7 27184611 27184611 + Silent SNP C C A rs529422357 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.534G>T p.Ala178= p.A178= ENST00000006015 1/2 NA NA NA NA NA NA HOXA11,synonymous_variant,p.Ala178=,ENST00000006015,NM_005523.6;HOXA11,synonymous_variant,p.Ala148=,ENST00000517402,;HOXA10,upstream_gene_variant,,ENST00000396344,;AC004080.3,upstream_gene_variant,,ENST00000470747,;HOXA11-AS,non_coding_transcript_exon_variant,,ENST00000520360,;HOXA11-AS,non_coding_transcript_exon_variant,,ENST00000647851,;HOXA11-AS,upstream_gene_variant,,ENST00000479766,;HOXA11-AS,upstream_gene_variant,,ENST00000520395,;HOXA11-AS,upstream_gene_variant,,ENST00000522674,;HOXA11-AS,upstream_gene_variant,,ENST00000522863,;AC004080.2,downstream_gene_variant,,ENST00000523331,;HOXA11-AS,upstream_gene_variant,,ENST00000647680,;HOXA11-AS,upstream_gene_variant,,ENST00000648491,;HOXA11-AS,upstream_gene_variant,,ENST00000648499,;HOXA11-AS,upstream_gene_variant,,ENST00000650141,;AC004080.8,upstream_gene_variant,,ENST00000613383,;AC004080.7,upstream_gene_variant,,ENST00000613939,;AC004080.14,upstream_gene_variant,,ENST00000615604,;AC004080.13,upstream_gene_variant,,ENST00000620092,;AC004080.15,upstream_gene_variant,,ENST00000620211,;AC004080.12,upstream_gene_variant,,ENST00000620901,;,regulatory_region_variant,,ENSR00000209853,; A ENSG00000005073 ENST00000006015 Transcript synonymous_variant 622/2669 534/942 178/313 A gcG/gcT rs529422357 1 NA -1 HOXA11 HGNC HGNC:5101 protein_coding YES CCDS5411.1 ENSP00000006015 P31270.184 UPI000000D992 NM_005523.6 1/2 PANTHER:PTHR46092,PANTHER:PTHR46092:SF3,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . CCG . 911.6 0.0001561 NA 0.0001559 NA NA 6.281e-05 0.0003205 NA NA 27184611 BBS9 27241 . GRCh38 chr7 33635228 33635228 + Frame_Shift_Del DEL C C - rs34415284 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2686del p.Leu896Ter p.L896* ENST00000673056 23/23 NA NA NA NA NA NA BBS9,frameshift_variant,p.Leu896Ter,ENST00000673056,NM_001348041.4;BBS9,frameshift_variant,p.Leu859Ter,ENST00000671952,NM_001362679.1;BBS9,intron_variant,,ENST00000672453,;BBS9,intron_variant,,ENST00000672758,; - ENSG00000122507 ENST00000673056 Transcript frameshift_variant 2917/3456 2684/2727 895/908 S/X tCc/tc rs34415284 1 NA 1 BBS9 HGNC HGNC:30000 protein_coding ENSP00000499989 A0A5F9ZH14.2 UPI0005D007E4 NM_001348041.4 23/23 NA 0.3994 0.5476 NA 0.1726 0.7346 0.453 NA NA NA NA NA NA HIGH 1 deletion NA 2 NA 1 . CTCC . 7644.03 NA NA NA NA NA NA NA NA NA 33635227 STK17A 9263 . GRCh38 chr7 43595986 43595986 + Missense_Mutation SNP G G T rs149595482 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.292G>T p.Gly98Cys p.G98C ENST00000319357 2/7 NA NA NA NA NA NA STK17A,missense_variant,p.Gly98Cys,ENST00000319357,NM_004760.3;STK17A,non_coding_transcript_exon_variant,,ENST00000462448,;STK17A,missense_variant,p.Gly98Cys,ENST00000648544,; T ENSG00000164543 ENST00000319357 Transcript missense_variant 428/3918 292/1245 98/414 G/C Ggc/Tgc rs149595482 1 NA 1 STK17A HGNC HGNC:11395 protein_coding YES CCDS5470.1 ENSP00000319192 Q9UEE5.169 UPI00001405A1 NM_004760.3 deleterious(0.03) probably_damaging(1) 2/7 PROSITE_profiles:PS50011,CDD:cd14197,PANTHER:PTHR24342:SF6,PANTHER:PTHR24342,Gene3D:3.30.200.20,Pfam:PF00069,SMART:SM00220,Superfamily:SSF56112 NA NA NA NA NA NA NA NA 0.0001163 NA NA NA NA MODERATE 1 SNV 1 NA NA NA . AGG . 1598.6 3.981e-06 NA NA NA NA NA 8.807e-06 NA NA 43595986 ZMIZ2 83637 . GRCh38 chr7 44757013 44757013 + Frame_Shift_Del DEL G G - novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.236del p.Gly79AlafsTer5 p.G79Afs*5 ENST00000615423 3/20 NA NA NA NA NA NA ZMIZ2,frameshift_variant,p.Gly79AlafsTer5,ENST00000309315,NM_031449.4;ZMIZ2,frameshift_variant,p.Gly79AlafsTer5,ENST00000441627,;ZMIZ2,frameshift_variant,p.Gly79AlafsTer5,ENST00000265346,NM_174929.2;ZMIZ2,frameshift_variant,p.Gly79AlafsTer5,ENST00000615423,;ZMIZ2,frameshift_variant,p.Gly79AlafsTer5,ENST00000457123,;ZMIZ2,intron_variant,,ENST00000413916,NM_001300959.1;ZMIZ2,intron_variant,,ENST00000433667,;ZMIZ2,3_prime_UTR_variant,,ENST00000416856,;ZMIZ2,upstream_gene_variant,,ENST00000463056,;ZMIZ2,upstream_gene_variant,,ENST00000478045,;ZMIZ2,upstream_gene_variant,,ENST00000480964,;ZMIZ2,downstream_gene_variant,,ENST00000492001,; - ENSG00000122515 ENST00000615423 Transcript frameshift_variant 232/2772 232/2772 78/923 G/X Ggg/gg 1 NA 1 ZMIZ2 HGNC HGNC:22229 protein_coding YES ENSP00000483853 A0A087X127.45 UPI0002065259 3/20 PANTHER:PTHR10782,PANTHER:PTHR10782:SF38,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 5 4 NA NA . CAGG . 5176.6 NA NA NA NA NA NA NA NA NA 44757012 TBRG4 9238 . GRCh38 chr7 45105719 45105719 + Silent SNP G G A rs145823540 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.457C>T p.Leu153= p.L153= ENST00000258770 3/11 NA NA NA NA NA NA TBRG4,synonymous_variant,p.Leu153=,ENST00000258770,NM_004749.4;TBRG4,synonymous_variant,p.Leu153=,ENST00000395655,;TBRG4,synonymous_variant,p.Leu153=,ENST00000494076,NM_001261834.1;TBRG4,synonymous_variant,p.Leu153=,ENST00000361278,NM_199122.2,NM_030900.3;TBRG4,synonymous_variant,p.Leu118=,ENST00000478532,;TBRG4,synonymous_variant,p.Leu99=,ENST00000461363,;TBRG4,downstream_gene_variant,,ENST00000475893,;TBRG4,downstream_gene_variant,,ENST00000482285,;TBRG4,upstream_gene_variant,,ENST00000483615,;TBRG4,downstream_gene_variant,,ENST00000495078,;SNORA5B,downstream_gene_variant,,ENST00000363786,;SNORA5C,upstream_gene_variant,,ENST00000364902,;SNORA5A,upstream_gene_variant,,ENST00000384111,;TBRG4,downstream_gene_variant,,ENST00000471142,;TBRG4,non_coding_transcript_exon_variant,,ENST00000495973,;TBRG4,non_coding_transcript_exon_variant,,ENST00000477328,;TBRG4,upstream_gene_variant,,ENST00000478116,;TBRG4,upstream_gene_variant,,ENST00000482482,;TBRG4,upstream_gene_variant,,ENST00000484326,;TBRG4,upstream_gene_variant,,ENST00000488222,; A ENSG00000136270 ENST00000258770 Transcript synonymous_variant 562/2226 457/1896 153/631 L Ctg/Ttg rs145823540 1 NA -1 TBRG4 HGNC HGNC:17443 protein_coding YES CCDS5501.1 ENSP00000258770 Q969Z0.152 UPI0000071F89 NM_004749.4 3/11 PANTHER:PTHR21228,PANTHER:PTHR21228:SF59 2e-04 8e-04 NA NA NA NA NA NA 0.0002326 NA NA NA NA LOW 1 SNV 1 NA NA NA . AGG . 4640.6 0.0001919 0.0002462 NA NA NA 4.634e-05 0.0003639 0.0003272 NA 45105719 PKD1L1 168507 . GRCh38 chr7 47803328 47803328 + Missense_Mutation SNP C C A NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.7844G>T p.Arg2615Leu p.R2615L ENST00000289672 53/57 NA NA NA NA NA NA PKD1L1,missense_variant,p.Arg2615Leu,ENST00000289672,NM_138295.5;PKD1L1,missense_variant,p.Arg160Leu,ENST00000648482,;C7orf69,intron_variant,,ENST00000418326,;C7orf69,intron_variant,,ENST00000623971,; A ENSG00000158683 ENST00000289672 Transcript missense_variant 7870/9105 7844/8550 2615/2849 R/L cGg/cTg COSV51842152 1 NA -1 PKD1L1 HGNC HGNC:18053 protein_coding YES CCDS34633.1 ENSP00000289672 Q8TDX9.155 UPI0000130FA9 NM_138295.5 deleterious(0.01) benign(0.012) 53/57 Pfam:PF08016,PANTHER:PTHR10877,PANTHER:PTHR10877:SF145,Transmembrane_helices:TMhelix NA NA NA NA NA NA NA NA NA 1 NA NA NA NA MODERATE 1 SNV 1 NA 1 NA 1 . CCG . 2158.6 NA NA NA NA NA NA NA NA NA 47803328 TYW1B 0 . GRCh38 chr7 72728899 72728899 + Missense_Mutation SNP A A C rs117110249 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1115T>G p.Leu372Trp p.L372W ENST00000620995 9/14 NA NA NA NA NA NA TYW1B,missense_variant,p.Leu372Trp,ENST00000620995,NM_001145440.3;TYW1B,missense_variant,p.Leu210Trp,ENST00000612372,;TYW1B,missense_variant,p.Leu307Trp,ENST00000610600,; C ENSG00000277149 ENST00000620995 Transcript missense_variant 1240/3117 1115/2007 372/668 L/W tTg/tGg rs117110249 1 NA -1 TYW1B HGNC HGNC:33908 protein_coding YES CCDS69309.1 ENSP00000482502 Q6NUM6.122 UPI000178DF1B NM_001145440.3 deleterious(0) possibly_damaging(0.769) 9/14 SFLD:SFLDS00029,PANTHER:PTHR13930,PANTHER:PTHR13930:SF0,Gene3D:3.20.20.70,Pfam:PF04055,Superfamily:SSF102114 NA 0.9962 0.8977 NA 0.8829 0.9006 0.9836 NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CAA . 10110.03 NA NA NA NA NA NA NA NA NA 72728899 TYW1B 0 . GRCh38 chr7 72744551 72744552 + Frame_Shift_Ins INS - - A rs11354897 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1014dup p.Glu339Ter p.E339* ENST00000620995 8/14 NA NA NA NA NA NA TYW1B,frameshift_variant,p.Glu339Ter,ENST00000620995,NM_001145440.3;TYW1B,frameshift_variant,p.Glu177Ter,ENST00000612372,;TYW1B,frameshift_variant,p.Glu274Ter,ENST00000610600,; A ENSG00000277149 ENST00000620995 Transcript frameshift_variant 1139-1140/3117 1014-1015/2007 338-339/668 -/X -/T rs11354897 1 NA -1 TYW1B HGNC HGNC:33908 protein_coding YES CCDS69309.1 ENSP00000482502 Q6NUM6.122 UPI000178DF1B NM_001145440.3 8/14 Gene3D:3.20.20.70 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 insertion 1 NA NA NA . TCA . 18080.06 NA NA NA NA NA NA NA NA NA 72744551 FKBP6 8468 . GRCh38 chr7 73329431 73329431 + Silent SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.247C>T p.Leu83= p.L83= ENST00000252037 3/9 NA NA NA NA NA NA FKBP6,synonymous_variant,p.Leu83=,ENST00000252037,NM_003602.5;FKBP6,synonymous_variant,p.Leu78=,ENST00000431982,NM_001135211.3,NM_001362789.2;FKBP6,synonymous_variant,p.Leu78=,ENST00000442793,;FKBP6,intron_variant,,ENST00000413573,NM_001281304.2;TRIM50,upstream_gene_variant,,ENST00000333149,NM_001281450.1,NM_178125.3;TRIM50,upstream_gene_variant,,ENST00000453152,NM_001281451.1;TRIM50,upstream_gene_variant,,ENST00000493498,;FKBP6,synonymous_variant,p.Leu78=,ENST00000648538,;FKBP6,synonymous_variant,p.Leu83=,ENST00000445032,;FKBP6,synonymous_variant,p.Leu83=,ENST00000429879,;FKBP6,non_coding_transcript_exon_variant,,ENST00000437013,; T ENSG00000077800 ENST00000252037 Transcript synonymous_variant 515/1699 247/984 83/327 L Cta/Tta 1 NA 1 FKBP6 HGNC HGNC:3722 protein_coding YES CCDS43595.1 ENSP00000252037 O75344.181 UPI000000165F NM_003602.5 3/9 PDB-ENSP_mappings:3b7x.A,PROSITE_profiles:PS50059,PANTHER:PTHR46674,Pfam:PF00254,Gene3D:3.10.50.40,Superfamily:SSF54534 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . GCT . 3752.6 NA NA NA NA NA NA NA NA NA 73329431 VPS37D 155382 . GRCh38 chr7 73671327 73671327 + Frame_Shift_Del DEL C C - rs1554609756 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.712del p.Leu238CysfsTer2 p.L238Cfs*2 ENST00000324941 4/4 NA NA NA NA NA NA VPS37D,frameshift_variant,p.Leu238CysfsTer2,ENST00000324941,NM_001077621.2;VPS37D,frameshift_variant,p.Leu153CysfsTer2,ENST00000451519,; - ENSG00000176428 ENST00000324941 Transcript frameshift_variant 835/1618 707/756 236/251 A/X gCc/gc rs1554609756 1 NA 1 VPS37D HGNC HGNC:18287 protein_coding YES CCDS43596.1 ENSP00000320416 Q86XT2.119 UPI000020E8D4 NM_001077621.2 4/4 MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite,PANTHER:PTHR13678:SF12,PANTHER:PTHR13678 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 5 NA NA . GGCC . 347.6 3.954e-05 NA NA NA 0.000369 NA NA NA NA 73671326 STX1A 6804 . GRCh38 chr7 73708638 73708638 + Silent SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.159G>A p.Glu53= p.E53= ENST00000222812 3/10 NA NA NA NA NA NA STX1A,synonymous_variant,p.Glu53=,ENST00000222812,NM_004603.4;STX1A,synonymous_variant,p.Glu53=,ENST00000395156,NM_001165903.2;STX1A,synonymous_variant,p.Glu53=,ENST00000395154,;STX1A,synonymous_variant,p.Glu53=,ENST00000395155,;MIR4284,upstream_gene_variant,,ENST00000578924,;STX1A,non_coding_transcript_exon_variant,,ENST00000470878,;STX1A,upstream_gene_variant,,ENST00000480126,;STX1A,upstream_gene_variant,,ENST00000496216,;STX1A,non_coding_transcript_exon_variant,,ENST00000462135,;BUD23,downstream_gene_variant,,ENST00000436944,;STX1A,upstream_gene_variant,,ENST00000461441,;STX1A,upstream_gene_variant,,ENST00000491427,;STX1A,upstream_gene_variant,,ENST00000494245,;STX1A,upstream_gene_variant,,ENST00000497980,; T ENSG00000106089 ENST00000222812 Transcript synonymous_variant 197/2102 159/867 53/288 E gaG/gaA 1 NA -1 STX1A HGNC HGNC:11433 protein_coding YES CCDS34655.1 ENSP00000222812 Q16623.201 Q75ME0.137 UPI0000136065 NM_004603.4 3/10 CDD:cd00179,PANTHER:PTHR19957:SF84,PANTHER:PTHR19957,Pfam:PF00804,Gene3D:1.20.58.70,SMART:SM00503,Superfamily:SSF47661 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . CCT . 2053.6 NA NA NA NA NA NA NA NA NA 73708638 GTF2IRD2 84163 . GRCh38 chr7 74797697 74797697 + Missense_Mutation SNP G G C rs707394 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2301C>G p.Asn767Lys p.N767K ENST00000651129 17/17 NA NA NA NA NA NA GTF2IRD2,missense_variant,p.Asn767Lys,ENST00000651129,NM_001368300.1;GTF2IRD2,missense_variant,p.Asn605Lys,ENST00000451013,NM_173537.4;GTF2IRD2,downstream_gene_variant,,ENST00000625377,;GTF2IRD2,downstream_gene_variant,,ENST00000610955,; C ENSG00000196275 ENST00000651129 Transcript missense_variant 3151/4663 2301/3336 767/1111 N/K aaC/aaG rs707394 1 NA -1 GTF2IRD2 HGNC HGNC:30775 protein_coding YES ENSP00000498563 A0A494C0I1.8 UPI0005D010D6 NM_001368300.1 tolerated(1) benign(0) 17/17 PANTHER:PTHR47831,Superfamily:SSF53098 NA 0.9493 0.928 NA 0.9831 0.8559 0.8487 NA NA NA NA NA NA MODERATE 1 SNV NA NA NA NA . AGT . 17673.03 NA NA NA NA NA NA NA NA NA 74797697 POM121C 0 . GRCh38 chr7 75422998 75422998 + Silent SNP C C T rs138045165 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1980G>A p.Gln660= p.Q660= ENST00000607367 11/13 NA NA NA NA NA NA POM121C,synonymous_variant,p.Gln418=,ENST00000615331,NM_001099415.3;POM121C,synonymous_variant,p.Gln660=,ENST00000607367,;POM121C,downstream_gene_variant,,ENST00000439629,;POM121C,downstream_gene_variant,,ENST00000473168,;POM121C,downstream_gene_variant,,ENST00000473609,;POM121C,downstream_gene_variant,,ENST00000479864,;POM121C,upstream_gene_variant,,ENST00000614583,; T ENSG00000272391 ENST00000607367 Transcript synonymous_variant 1980/3690 1980/3690 660/1229 Q caG/caA rs138045165 1 NA -1 POM121C HGNC HGNC:34005 protein_coding YES ENSP00000476236 A8CG34.110 UPI0003335087 11/13 PANTHER:PTHR23193,PANTHER:PTHR23193:SF42,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . CCT . 1094.03 NA NA NA NA NA NA NA NA NA 75422998 SPDYE5 0 . GRCh38 chr7 75495262 75495262 + Silent SNP A A G rs62477720 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.267A>G p.Glu89= p.E89= ENST00000625065 2/8 NA NA NA NA NA NA SPDYE5,synonymous_variant,p.Glu49=,ENST00000624640,;SPDYE5,synonymous_variant,p.Glu89=,ENST00000625065,NM_001306141.1;SPDYE5,synonymous_variant,p.Glu89=,ENST00000455862,; G ENSG00000170092 ENST00000625065 Transcript synonymous_variant 690/1700 267/1209 89/402 E gaA/gaG rs62477720 1 NA 1 SPDYE5 HGNC HGNC:35464 protein_coding YES CCDS78241.1 ENSP00000485398 A6NIY4.77 UPI000387D8EA NM_001306141.1 2/8 PANTHER:PTHR31156,PANTHER:PTHR31156:SF15,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA 0.9175 0.9164 NA 0.9514 0.9284 0.8773 NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . AAC . 9207.03 NA NA NA NA NA NA NA NA NA 75495262 SPDYE5 0 . GRCh38 chr7 75501512 75501512 + Missense_Mutation SNP G G C rs62477724 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.906G>C p.Lys302Asn p.K302N ENST00000625065 6/8 NA NA NA NA NA NA SPDYE5,missense_variant,p.Lys302Asn,ENST00000625065,NM_001306141.1;SPDYE5,missense_variant,p.Lys302Asn,ENST00000455862,;SPDYE5,intron_variant,,ENST00000624640,; C ENSG00000170092 ENST00000625065 Transcript missense_variant 1329/1700 906/1209 302/402 K/N aaG/aaC rs62477724 1 NA 1 SPDYE5 HGNC HGNC:35464 protein_coding YES CCDS78241.1 ENSP00000485398 A6NIY4.77 UPI000387D8EA NM_001306141.1 tolerated(0.4) benign(0) 6/8 Pfam:PF11357,PANTHER:PTHR31156,PANTHER:PTHR31156:SF15 NA 0.5817 0.8199 NA 0.9494 0.8091 0.727 NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . AGC . 24706.03 NA NA NA NA NA NA NA NA NA 75501512 SPDYE16 0 . GRCh38 chr7 76540187 76540187 + Missense_Mutation SNP T T C rs1193659700 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.320A>G p.Lys107Arg p.K107R ENST00000632547 2/7 NA NA NA NA NA NA SPDYE16,missense_variant,p.Lys107Arg,ENST00000632547,;SPDYE16,missense_variant,p.Lys67Arg,ENST00000633306,NM_001351597.1;SPDYE16,missense_variant,p.Lys67Arg,ENST00000515340,;,regulatory_region_variant,,ENSR00000829049,; C ENSG00000185040 ENST00000632547 Transcript missense_variant 320/3434 320/1059 107/352 K/R aAg/aGg rs1193659700 1 NA -1 SPDYE16 HGNC HGNC:51512 protein_coding YES ENSP00000488034 A0A0J9YWM7.25 UPI0001E6F6B0 tolerated(0.05) probably_damaging(0.997) 2/7 PANTHER:PTHR31156,PANTHER:PTHR31156:SF15 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . CTT . 323.6 NA NA NA NA NA NA NA NA NA 76540187 SPDYE16 0 . GRCh38 chr7 76541388 76541388 + Silent SNP A A C rs3901999 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.72T>G p.Pro24= p.P24= ENST00000632547 1/7 NA NA NA NA NA NA SPDYE16,synonymous_variant,p.Pro24=,ENST00000632547,;SPDYE16,upstream_gene_variant,,ENST00000515340,;SPDYE16,upstream_gene_variant,,ENST00000633306,NM_001351597.1; C ENSG00000185040 ENST00000632547 Transcript synonymous_variant 72/3434 72/1059 24/352 P ccT/ccG rs3901999 1 NA -1 SPDYE16 HGNC HGNC:51512 protein_coding YES ENSP00000488034 A0A0J9YWM7.25 UPI0001E6F6B0 1/7 PANTHER:PTHR31156,PANTHER:PTHR31156:SF15,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . GAG . 3352.6 NA NA NA NA NA NA NA NA NA 76541388 CACNA2D1 781 . GRCh38 chr7 82032874 82032874 + Missense_Mutation SNP T T C rs201682618 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1066A>G p.Lys356Glu p.K356E ENST00000356253 12/39 NA NA NA NA NA NA CACNA2D1,missense_variant,p.Lys356Glu,ENST00000356860,NM_000722.4;CACNA2D1,missense_variant,p.Lys356Glu,ENST00000356253,NM_001366867.1;CACNA2D1-AS1,downstream_gene_variant,,ENST00000439234,;CACNA2D1-AS1,downstream_gene_variant,,ENST00000454066,;CACNA2D1,non_coding_transcript_exon_variant,,ENST00000464354,;CACNA2D1,non_coding_transcript_exon_variant,,ENST00000492734,;CACNA2D1,non_coding_transcript_exon_variant,,ENST00000475237,; C ENSG00000153956 ENST00000356253 Transcript missense_variant 1322/3858 1066/3312 356/1103 K/E Aag/Gag rs201682618 1 NA -1 CACNA2D1 HGNC HGNC:1399 protein_coding YES ENSP00000348589 P54289.193 UPI0001B9E74B NM_001366867.1 deleterious(0) possibly_damaging(0.833) 12/39 PROSITE_profiles:PS50234,CDD:cd01463,PANTHER:PTHR10166,PANTHER:PTHR10166:SF6,Gene3D:3.40.50.410,Pfam:PF00092,SMART:SM00327,Superfamily:SSF53300 2e-04 NA NA NA NA 0.001 NA NA 0.0001164 uncertain_significance NA NA NA NA MODERATE NA SNV 5 NA 1 NA 1 . TTA . 424.6 9.195e-05 6.197e-05 2.896e-05 0.0001989 NA 4.696e-05 0.0001326 NA 9.805e-05 82032874 DMTF1 9988 . GRCh38 chr7 87184483 87184483 + Missense_Mutation SNP G G T novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.907G>T p.Gly303Cys p.G303C ENST00000394703 13/20 NA NA NA NA NA NA DMTF1,missense_variant,p.Gly303Cys,ENST00000394703,NM_021145.3;DMTF1,missense_variant,p.Gly303Cys,ENST00000331242,NM_001142327.2;DMTF1,missense_variant,p.Gly303Cys,ENST00000413276,;DMTF1,missense_variant,p.Gly215Cys,ENST00000432937,NM_001142326.1;DMTF1,downstream_gene_variant,,ENST00000425705,;DMTF1,downstream_gene_variant,,ENST00000430405,;AC005076.2,upstream_gene_variant,,ENST00000615087,;DMTF1,missense_variant,p.Gly303Cys,ENST00000547146,;DMTF1,missense_variant,p.Gly262Cys,ENST00000579850,;DMTF1,3_prime_UTR_variant,,ENST00000412139,;DMTF1,3_prime_UTR_variant,,ENST00000447863,;DMTF1,3_prime_UTR_variant,,ENST00000579677,;DMTF1,3_prime_UTR_variant,,ENST00000425406,;DMTF1,3_prime_UTR_variant,,ENST00000584619,;DMTF1,non_coding_transcript_exon_variant,,ENST00000473521,;DMTF1,non_coding_transcript_exon_variant,,ENST00000582887,;DMTF1,intron_variant,,ENST00000578926,;DMTF1,upstream_gene_variant,,ENST00000480982,;DMTF1,upstream_gene_variant,,ENST00000580803,; T ENSG00000135164 ENST00000394703 Transcript missense_variant 1470/4038 907/2283 303/760 G/C Ggt/Tgt 1 NA 1 DMTF1 HGNC HGNC:14603 protein_coding YES CCDS5601.1 ENSP00000378193 Q9Y222.163 UPI000006FB78 NM_021145.3 deleterious(0.04) probably_damaging(1) 13/20 Gene3D:1.10.10.60,Pfam:PF00249,PROSITE_profiles:PS51294,PANTHER:PTHR46380,PANTHER:PTHR46380:SF1,SMART:SM00717,Superfamily:SSF46689,CDD:cd00167 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . GGG . 2989.6 NA NA NA NA NA NA NA NA NA 87184483 RUNDC3B 154661 . GRCh38 chr7 87710611 87710611 + Silent SNP A A G novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.465A>G p.Leu155= p.L155= ENST00000338056 5/12 NA NA NA NA NA NA RUNDC3B,synonymous_variant,p.Leu155=,ENST00000338056,NM_138290.3;RUNDC3B,synonymous_variant,p.Leu138=,ENST00000394654,NM_001134405.2;RUNDC3B,synonymous_variant,p.Leu138=,ENST00000493037,NM_001134406.2;ABCB1,intron_variant,,ENST00000265724,NM_001348944.1,NM_000927.4,NM_001348945.1;ABCB1,intron_variant,,ENST00000416177,;ABCB1,intron_variant,,ENST00000543898,;RUNDC3B,non_coding_transcript_exon_variant,,ENST00000496000,;RUNDC3B,non_coding_transcript_exon_variant,,ENST00000489461,;RUNDC3B,non_coding_transcript_exon_variant,,ENST00000466676,;ABCB1,intron_variant,,ENST00000476862,;RUNDC3B,non_coding_transcript_exon_variant,,ENST00000312373,; G ENSG00000105784 ENST00000338056 Transcript synonymous_variant 876/4099 465/1422 155/473 L ttA/ttG 1 NA 1 RUNDC3B HGNC HGNC:30286 protein_coding YES CCDS5609.1 ENSP00000337732 Q96NL0.117 UPI0000071425 NM_138290.3 5/12 Gene3D:1.20.58.900,Pfam:PF02759,PROSITE_profiles:PS50826,PANTHER:PTHR46251,PANTHER:PTHR46251:SF1,SMART:SM00593,Superfamily:SSF140741 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 2 NA NA NA . TAT . 136.6 NA NA NA NA NA NA NA NA NA 87710611 RUNDC3B 154661 . GRCh38 chr7 87710633 87710633 + Silent SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.487C>T p.Leu163= p.L163= ENST00000338056 5/12 NA NA NA NA NA NA RUNDC3B,synonymous_variant,p.Leu163=,ENST00000338056,NM_138290.3;RUNDC3B,synonymous_variant,p.Leu146=,ENST00000394654,NM_001134405.2;RUNDC3B,synonymous_variant,p.Leu146=,ENST00000493037,NM_001134406.2;ABCB1,intron_variant,,ENST00000265724,NM_001348944.1,NM_000927.4,NM_001348945.1;ABCB1,intron_variant,,ENST00000416177,;ABCB1,intron_variant,,ENST00000543898,;RUNDC3B,non_coding_transcript_exon_variant,,ENST00000496000,;RUNDC3B,non_coding_transcript_exon_variant,,ENST00000489461,;RUNDC3B,non_coding_transcript_exon_variant,,ENST00000466676,;ABCB1,intron_variant,,ENST00000476862,;RUNDC3B,non_coding_transcript_exon_variant,,ENST00000312373,; T ENSG00000105784 ENST00000338056 Transcript synonymous_variant 898/4099 487/1422 163/473 L Ctg/Ttg 1 NA 1 RUNDC3B HGNC HGNC:30286 protein_coding YES CCDS5609.1 ENSP00000337732 Q96NL0.117 UPI0000071425 NM_138290.3 5/12 Gene3D:1.20.58.900,Pfam:PF02759,PROSITE_profiles:PS50826,PANTHER:PTHR46251,PANTHER:PTHR46251:SF1,SMART:SM00593,Superfamily:SSF140741 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 2 NA NA NA . TCT . 136.6 NA NA NA NA NA NA NA NA NA 87710633 AKAP9 10142 . GRCh38 chr7 92079088 92079089 + Frame_Shift_Ins INS - - A novel NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.7034dup p.Asn2345LysfsTer2 p.N2345Kfs*2 ENST00000359028 32/51 NA NA NA NA NA NA AKAP9,frameshift_variant,p.Asn2321LysfsTer2,ENST00000356239,NM_005751.5,NM_147185.3;AKAP9,frameshift_variant,p.Asn2345LysfsTer2,ENST00000359028,;AKAP9,frameshift_variant,p.Asn167LysfsTer2,ENST00000394534,NM_001379277.1;AKAP9,upstream_gene_variant,,ENST00000435423,; A ENSG00000127914 ENST00000359028 Transcript frameshift_variant 7027-7028/12219 7027-7028/11796 2343/3931 E/EX gaa/gAaa 1 NA 1 AKAP9 HGNC HGNC:379 protein_coding YES ENSP00000351922 A0A0A0MRF6.46 UPI0007DC7372 32/51 Coiled-coils_(Ncoils):Coil,PANTHER:PTHR44981,PANTHER:PTHR44981:SF1 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 insertion 5 7 NA 1 . AGA . 240.64 NA NA NA NA NA NA NA NA NA 92079088 AKAP9 10142 . GRCh38 chr7 92102724 92102725 + Frame_Shift_Ins INS - - G rs747796926 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.11307dup p.Gln3770AlafsTer52 p.Q3770Afs*52 ENST00000359028 47/51 NA NA NA NA NA NA AKAP9,frameshift_variant,p.Gln3746AlafsTer52,ENST00000356239,NM_005751.5,NM_147185.3;AKAP9,frameshift_variant,p.Gln3770AlafsTer52,ENST00000359028,;AKAP9,frameshift_variant,p.Gln1592AlafsTer52,ENST00000394534,NM_001379277.1;AKAP9,non_coding_transcript_exon_variant,,ENST00000486313,;AKAP9,non_coding_transcript_exon_variant,,ENST00000487258,;AKAP9,non_coding_transcript_exon_variant,,ENST00000463118,;AKAP9,downstream_gene_variant,,ENST00000487692,;AKAP9,upstream_gene_variant,,ENST00000493976,; G ENSG00000127914 ENST00000359028 Transcript frameshift_variant 11300-11301/12219 11300-11301/11796 3767/3931 M/MX atg/atGg rs747796926 1 NA 1 AKAP9 HGNC HGNC:379 protein_coding YES ENSP00000351922 A0A0A0MRF6.46 UPI0007DC7372 47/51 Pfam:PF10495,PANTHER:PTHR44981,PANTHER:PTHR44981:SF1 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 insertion 5 7 NA 1 . ATG . 5213.64 NA NA NA NA NA NA NA NA NA 92102724 CYP51A1 1595 . GRCh38 chr7 92123240 92123240 + Silent SNP G G T novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.966C>A p.Ser322= p.S322= ENST00000003100 7/10 NA NA NA NA NA NA CYP51A1,synonymous_variant,p.Ser322=,ENST00000003100,NM_000786.4;CYP51A1,synonymous_variant,p.Ser217=,ENST00000450723,NM_001146152.1;CYP51A1,synonymous_variant,p.Ser63=,ENST00000422867,;AC000120.2,non_coding_transcript_exon_variant,,ENST00000422722,; T ENSG00000001630 ENST00000003100 Transcript synonymous_variant 1079/3155 966/1530 322/509 S tcC/tcA 1 NA -1 CYP51A1 HGNC HGNC:2649 protein_coding YES CCDS5623.1 ENSP00000003100 A0A0C4DFL7.42 UPI000013C4D5 NM_000786.4 7/10 PANTHER:PTHR24286:SF191,PANTHER:PTHR24286,Gene3D:1.10.630.10,Pfam:PF00067,Superfamily:SSF48264,Prints:PR00385,Prints:PR00465 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . AGG . 3604.6 NA NA NA NA NA NA NA NA NA 92123240 GNG11 2791 . GRCh38 chr7 93926201 93926201 + Silent SNP C C T rs745695448 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.207C>T p.Ser69= p.S69= ENST00000248564 2/2 NA NA NA NA NA NA GNG11,synonymous_variant,p.Ser69=,ENST00000248564,NM_004126.4; T ENSG00000127920 ENST00000248564 Transcript synonymous_variant 610/3019 207/222 69/73 S agC/agT rs745695448 1 NA 1 GNG11 HGNC HGNC:4403 protein_coding YES CCDS5634.1 ENSP00000248564 P61952.141 Q53Y01.132 UPI0000001AD4 NM_004126.4 2/2 Gene3D:4.10.260.10,Pfam:PF00631,PROSITE_profiles:PS50058,PANTHER:PTHR13809,PANTHER:PTHR13809:SF1,SMART:SM00224,SMART:SM01224,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . GCT . 926.6 8.819e-06 NA NA NA NA NA NA NA 8.07e-05 93926201 PEG10 23089 . GRCh38 chr7 94665230 94665230 + Nonsense_Mutation SNP C C T NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1900C>T p.Arg634Ter p.R634* ENST00000612748 3/3 NA NA NA NA NA NA PEG10,stop_gained,p.Arg592Ter,ENST00000612941,NM_001184961.1,NM_015068.3;PEG10,stop_gained,p.Arg558Ter,ENST00000617526,;PEG10,stop_gained,p.Arg634Ter,ENST00000612748,NM_001172437.2;PEG10,3_prime_UTR_variant,,ENST00000482108,NM_001040152.2;PEG10,3_prime_UTR_variant,,ENST00000615790,NM_001184962.2;PEG10,3_prime_UTR_variant,,ENST00000488574,NM_001172438.3;PEG10,downstream_gene_variant,,ENST00000613043,;PEG10,intron_variant,,ENST00000465184,;PEG10,intron_variant,,ENST00000493935,; T ENSG00000242265 ENST00000612748 Transcript stop_gained 2117/2585 1900/2352 634/783 R/* Cga/Tga COSV101509861 1 NA 1 PEG10 HGNC HGNC:14005 protein_coding YES ENSP00000480676 A0A087WX23.43 UPI0004620961 NM_001172437.2 3/3 Gene3D:3.10.10.10,Superfamily:SSF56672 NA NA NA NA NA NA NA NA NA 1 NA NA NA NA HIGH 1 SNV 5 NA 1 NA NA . TCG . 3650.6 NA NA NA NA NA NA NA NA NA 94665230 PEG10 23089 . GRCh38 chr7 94665566 94665566 + Missense_Mutation SNP A A G novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2236A>G p.Met746Val p.M746V ENST00000612748 3/3 NA NA NA NA NA NA PEG10,missense_variant,p.Met704Val,ENST00000612941,NM_001184961.1,NM_015068.3;PEG10,missense_variant,p.Met670Val,ENST00000617526,;PEG10,missense_variant,p.Met746Val,ENST00000612748,NM_001172437.2;PEG10,3_prime_UTR_variant,,ENST00000482108,NM_001040152.2;PEG10,3_prime_UTR_variant,,ENST00000615790,NM_001184962.2;PEG10,3_prime_UTR_variant,,ENST00000488574,NM_001172438.3;PEG10,downstream_gene_variant,,ENST00000613043,;PEG10,intron_variant,,ENST00000465184,;PEG10,intron_variant,,ENST00000493935,; G ENSG00000242265 ENST00000612748 Transcript missense_variant 2453/2585 2236/2352 746/783 M/V Atg/Gtg 1 NA 1 PEG10 HGNC HGNC:14005 protein_coding YES ENSP00000480676 A0A087WX23.43 UPI0004620961 NM_001172437.2 tolerated_low_confidence(0.62) benign(0.001) 3/3 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . GAT . 2340.6 NA NA NA NA NA NA NA NA NA 94665566 DLX6 1750 . GRCh38 chr7 97006051 97006052 + In_Frame_Ins INS - - GCAGCAGCA rs530625473 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.90_98dup p.Gln42_Gln44dup p.Q42_Q44dup ENST00000518156 1/3 NA NA NA NA NA NA DLX6,inframe_insertion,p.Gln42_Gln44dup,ENST00000518156,NM_005222.4;DLX6,upstream_gene_variant,,ENST00000555308,;DLX6-AS1,intron_variant,,ENST00000430027,;DLX6-AS1,intron_variant,,ENST00000430404,;DLX6-AS1,intron_variant,,ENST00000437331,;DLX6-AS1,intron_variant,,ENST00000437541,;DLX6-AS1,intron_variant,,ENST00000452769,;DLX6-AS1,intron_variant,,ENST00000458352,;DLX6-AS1,intron_variant,,ENST00000605417,;DLX6-AS1,intron_variant,,ENST00000654988,;DLX6-AS1,upstream_gene_variant,,ENST00000656954,;DLX6-AS1,upstream_gene_variant,,ENST00000658043,;DLX6-AS1,upstream_gene_variant,,ENST00000659765,;DLX6,upstream_gene_variant,,ENST00000493273,;,regulatory_region_variant,,ENSR00000215470,; GCAGCAGCA ENSG00000006377 ENST00000518156 Transcript inframe_insertion 499-500/2300 74-75/882 25/293 G/GQQQ ggg/ggGCAGCAGCAg rs530625473 1 NA 1 DLX6 HGNC HGNC:2919 protein_coding YES CCDS47647.2 ENSP00000428480 P56179.172 UPI0000EE57E0 NM_005222.4 1/3 PANTHER:PTHR24327,PANTHER:PTHR24327:SF26,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 insertion 1 24 NA 1 . GGG . 1955.64 8.438e-05 NA 3.504e-05 0.0001113 NA 0.0003515 4.915e-05 0.0004085 8.062e-05 97006051 BHLHA15 168620 . GRCh38 chr7 98212368 98212368 + Frame_Shift_Del DEL C C - NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.63del p.Glu23ArgfsTer69 p.E23Rfs*69 ENST00000609256 2/2 NA NA NA NA NA NA BHLHA15,frameshift_variant,p.Glu23ArgfsTer69,ENST00000609256,NM_177455.4;BHLHA15,frameshift_variant,p.Glu23ArgfsTer69,ENST00000314018,;LMTK2,downstream_gene_variant,,ENST00000297293,NM_014916.4;TECPR1,downstream_gene_variant,,ENST00000447648,NM_015395.3;TECPR1,downstream_gene_variant,,ENST00000463402,;TECPR1,downstream_gene_variant,,ENST00000485716,;TECPR1,downstream_gene_variant,,ENST00000490842,;,regulatory_region_variant,,ENSR00000215516,; - ENSG00000180535 ENST00000609256 Transcript frameshift_variant 173/3262 59/570 20/189 T/X aCc/ac COSV51995477 1 NA 1 BHLHA15 HGNC HGNC:22265 protein_coding YES CCDS5655.1 ENSP00000476312 Q7RTS1.132 UPI000013F6EA NM_177455.4 2/2 MobiDB_lite:mobidb-lite,PANTHER:PTHR19290:SF85,PANTHER:PTHR19290 NA NA NA NA NA NA NA NA NA 1 NA NA NA NA HIGH NA deletion 3 4 1 NA NA . CACC . 3704.6 NA NA NA NA NA NA NA NA NA 98212367 BHLHA15 168620 . GRCh38 chr7 98212373 98212373 + Missense_Mutation SNP G G T novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.64G>T p.Gly22Trp p.G22W ENST00000609256 2/2 NA NA NA NA NA NA BHLHA15,missense_variant,p.Gly22Trp,ENST00000609256,NM_177455.4;BHLHA15,missense_variant,p.Gly22Trp,ENST00000314018,;LMTK2,downstream_gene_variant,,ENST00000297293,NM_014916.4;TECPR1,downstream_gene_variant,,ENST00000447648,NM_015395.3;TECPR1,downstream_gene_variant,,ENST00000463402,;TECPR1,downstream_gene_variant,,ENST00000485716,;TECPR1,downstream_gene_variant,,ENST00000490842,;,regulatory_region_variant,,ENSR00000215516,; T ENSG00000180535 ENST00000609256 Transcript missense_variant 178/3262 64/570 22/189 G/W Ggg/Tgg 1 NA 1 BHLHA15 HGNC HGNC:22265 protein_coding YES CCDS5655.1 ENSP00000476312 Q7RTS1.132 UPI000013F6EA NM_177455.4 deleterious(0) possibly_damaging(0.759) 2/2 MobiDB_lite:mobidb-lite,PANTHER:PTHR19290:SF85,PANTHER:PTHR19290 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE NA SNV 3 NA NA NA . CGG . 3797.6 NA NA NA NA NA NA NA NA NA 98212373 BHLHA15 168620 . GRCh38 chr7 98212486 98212486 + Silent SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.177G>A p.Arg59= p.R59= ENST00000609256 2/2 NA NA NA NA NA NA BHLHA15,synonymous_variant,p.Arg59=,ENST00000609256,NM_177455.4;BHLHA15,synonymous_variant,p.Arg59=,ENST00000314018,;LMTK2,downstream_gene_variant,,ENST00000297293,NM_014916.4;TECPR1,downstream_gene_variant,,ENST00000447648,NM_015395.3;TECPR1,downstream_gene_variant,,ENST00000463402,;TECPR1,downstream_gene_variant,,ENST00000485716,;TECPR1,downstream_gene_variant,,ENST00000490842,; A ENSG00000180535 ENST00000609256 Transcript synonymous_variant 291/3262 177/570 59/189 R agG/agA 1 NA 1 BHLHA15 HGNC HGNC:22265 protein_coding YES CCDS5655.1 ENSP00000476312 Q7RTS1.132 UPI000013F6EA NM_177455.4 2/2 Low_complexity_(Seg):seg,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite,PANTHER:PTHR19290:SF85,PANTHER:PTHR19290 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW NA SNV 3 NA NA NA . GGC . 1929.6 NA NA NA NA NA NA NA NA NA 98212486 TRRAP 8295 . GRCh38 chr7 98911259 98911259 + Missense_Mutation SNP T T A NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1995T>A p.Asn665Lys p.N665K ENST00000456197 17/73 NA NA NA NA NA NA TRRAP,missense_variant,p.Asn665Lys,ENST00000359863,NM_001244580.1;TRRAP,missense_variant,p.Asn665Lys,ENST00000456197,NM_001375524.1;TRRAP,missense_variant,p.Asn664Lys,ENST00000628380,;TRRAP,missense_variant,p.Asn665Lys,ENST00000355540,NM_003496.3;TRRAP,missense_variant,p.Asn664Lys,ENST00000446306,; A ENSG00000196367 ENST00000456197 Transcript missense_variant 2162/12675 1995/11622 665/3873 N/K aaT/aaA COSV100722521 1 NA 1 TRRAP HGNC HGNC:12347 protein_coding YES ENSP00000394645 H0Y4W2.68 UPI000387DB49 NM_001375524.1 deleterious(0) probably_damaging(0.978) 17/73 PANTHER:PTHR11139,PANTHER:PTHR11139:SF1 NA NA NA NA NA NA NA NA NA 1 NA NA NA NA MODERATE 1 SNV 1 NA 1 NA 1 . ATT . 1815.6 NA NA NA NA NA NA NA NA NA 98911259 CYP3A5 1577 . GRCh38 chr7 99666656 99666656 + Missense_Mutation SNP A A T novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.466T>A p.Leu156Met p.L156M ENST00000222982 6/13 NA NA NA NA NA NA CYP3A5,missense_variant,p.Leu156Met,ENST00000222982,NM_000777.5,NM_001291830.2,NM_001291829.2;CYP3A5,3_prime_UTR_variant,,ENST00000339843,;CYP3A5,downstream_gene_variant,,ENST00000439761,NM_001190484.3;CYP3A5,downstream_gene_variant,,ENST00000480723,;CYP3A5,3_prime_UTR_variant,,ENST00000646887,;CYP3A5,non_coding_transcript_exon_variant,,ENST00000469887,;CYP3A5,non_coding_transcript_exon_variant,,ENST00000481825,;CYP3A5,non_coding_transcript_exon_variant,,ENST00000461920,;CYP3A5,non_coding_transcript_exon_variant,,ENST00000466061,;CYP3A5,intron_variant,,ENST00000463364,;CYP3A5,downstream_gene_variant,,ENST00000463907,;CYP3A5,upstream_gene_variant,,ENST00000473347,;,regulatory_region_variant,,ENSR00000833376,; T ENSG00000106258 ENST00000222982 Transcript missense_variant 566/1720 466/1509 156/502 L/M Ttg/Atg 1 NA -1 CYP3A5 HGNC HGNC:2638 protein_coding YES CCDS5672.1 ENSP00000222982 P20815.200 UPI000000163D NM_000777.5,NM_001291830.2,NM_001291829.2 deleterious(0.03) probably_damaging(0.997) 6/13 Gene3D:1.10.630.10,PDB-ENSP_mappings:5veu.A,PDB-ENSP_mappings:5veu.B,PDB-ENSP_mappings:5veu.C,PDB-ENSP_mappings:5veu.D,PDB-ENSP_mappings:5veu.E,PDB-ENSP_mappings:5veu.F,PDB-ENSP_mappings:5veu.G,PDB-ENSP_mappings:5veu.H,PDB-ENSP_mappings:5veu.I,PDB-ENSP_mappings:5veu.J,PDB-ENSP_mappings:5veu.K,PDB-ENSP_mappings:5veu.L,PDB-ENSP_mappings:6mjm.A,Pfam:PF00067,PANTHER:PTHR24302,PANTHER:PTHR24302:SF20,Superfamily:SSF48264 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . AAT . 877.6 NA NA NA NA NA NA NA NA NA 99666656 CYP3A5 1577 . GRCh38 chr7 99674551 99674551 + Frame_Shift_Del DEL T T - novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.200del p.Lys67SerfsTer23 p.K67Sfs*23 ENST00000222982 3/13 NA NA NA NA NA NA CYP3A5,frameshift_variant,p.Lys67SerfsTer23,ENST00000439761,NM_001190484.3;CYP3A5,frameshift_variant,p.Lys67SerfsTer23,ENST00000222982,NM_000777.5,NM_001291830.2,NM_001291829.2;CYP3A5,3_prime_UTR_variant,,ENST00000339843,;CYP3A5,non_coding_transcript_exon_variant,,ENST00000480723,;CYP3A5,non_coding_transcript_exon_variant,,ENST00000469622,;CYP3A5,frameshift_variant,p.Lys67SerfsTer23,ENST00000646887,;CYP3A5,3_prime_UTR_variant,,ENST00000456417,;CYP3A5,non_coding_transcript_exon_variant,,ENST00000469887,;CYP3A5,non_coding_transcript_exon_variant,,ENST00000481825,;CYP3A5,non_coding_transcript_exon_variant,,ENST00000461920,;CYP3A5,non_coding_transcript_exon_variant,,ENST00000463364,;CYP3A5,non_coding_transcript_exon_variant,,ENST00000463907,;CYP3A5,non_coding_transcript_exon_variant,,ENST00000466061,;CYP3A5,non_coding_transcript_exon_variant,,ENST00000489231,; - ENSG00000106258 ENST00000222982 Transcript frameshift_variant 300/1720 200/1509 67/502 K/X aAg/ag 1 NA -1 CYP3A5 HGNC HGNC:2638 protein_coding YES CCDS5672.1 ENSP00000222982 P20815.200 UPI000000163D NM_000777.5,NM_001291830.2,NM_001291829.2 3/13 Gene3D:1.10.630.10,PDB-ENSP_mappings:5veu.A,PDB-ENSP_mappings:5veu.B,PDB-ENSP_mappings:5veu.C,PDB-ENSP_mappings:5veu.D,PDB-ENSP_mappings:5veu.E,PDB-ENSP_mappings:5veu.F,PDB-ENSP_mappings:5veu.G,PDB-ENSP_mappings:5veu.H,PDB-ENSP_mappings:5veu.I,PDB-ENSP_mappings:5veu.J,PDB-ENSP_mappings:5veu.K,PDB-ENSP_mappings:5veu.L,PDB-ENSP_mappings:6mjm.A,Pfam:PF00067,PANTHER:PTHR24302,PANTHER:PTHR24302:SF20,Superfamily:SSF48264 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 NA NA 1 . ACTT . 1174.6 NA NA NA NA NA NA NA NA NA 99674550 MAP11 55262 . GRCh38 chr7 100156861 100156861 + Frame_Shift_Del DEL G G - novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.977del p.Pro326LeufsTer12 p.P326Lfs*12 ENST00000316937 6/11 NA NA NA NA NA NA MAP11,frameshift_variant,p.Pro326LeufsTer12,ENST00000316937,NM_018275.5;MAP11,frameshift_variant,p.Pro57LeufsTer12,ENST00000456769,NM_001303470.2;MAP11,frameshift_variant,p.Pro57LeufsTer12,ENST00000457641,;LAMTOR4,downstream_gene_variant,,ENST00000341942,NM_001008395.4;GAL3ST4,downstream_gene_variant,,ENST00000360039,NM_024637.5;GAL3ST4,downstream_gene_variant,,ENST00000411994,;GAL3ST4,downstream_gene_variant,,ENST00000413800,;GAL3ST4,downstream_gene_variant,,ENST00000423751,;LAMTOR4,downstream_gene_variant,,ENST00000441173,;LAMTOR4,downstream_gene_variant,,ENST00000460732,NM_001318236.2;LAMTOR4,downstream_gene_variant,,ENST00000466498,;LAMTOR4,downstream_gene_variant,,ENST00000468582,;LAMTOR4,downstream_gene_variant,,ENST00000473459,;LAMTOR4,downstream_gene_variant,,ENST00000474141,NM_001318237.2;LAMTOR4,downstream_gene_variant,,ENST00000488241,;LAMTOR4,downstream_gene_variant,,ENST00000490633,;GAL3ST4,downstream_gene_variant,,ENST00000498000,;MIR4658,upstream_gene_variant,,ENST00000584344,;LAMTOR4,downstream_gene_variant,,ENST00000474831,;MAP11,frameshift_variant,p.Pro60LeufsTer12,ENST00000448720,;MAP11,3_prime_UTR_variant,,ENST00000419037,;MAP11,3_prime_UTR_variant,,ENST00000419841,;MAP11,non_coding_transcript_exon_variant,,ENST00000498638,;MAP11,upstream_gene_variant,,ENST00000394035,;MAP11,upstream_gene_variant,,ENST00000470260,;MAP11,downstream_gene_variant,,ENST00000472061,;LAMTOR4,downstream_gene_variant,,ENST00000488338,;GAL3ST4,downstream_gene_variant,,ENST00000495882,; - ENSG00000146826 ENST00000316937 Transcript frameshift_variant 1201/2555 977/1743 326/580 P/X cCt/ct 1 NA -1 MAP11 HGNC HGNC:25604 protein_coding YES CCDS5687.1 ENSP00000324741 Q8WVR3.125 UPI000006ECC7 NM_018275.5 6/11 Pfam:PF15806,PANTHER:PTHR16096 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 NA NA 1 . GAGG . 3425.6 NA NA NA NA NA NA NA NA NA 100156860 NYAP1 222950 . GRCh38 chr7 100486994 100486994 + Missense_Mutation SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.242G>A p.Arg81His p.R81H ENST00000300179 3/7 NA NA NA NA NA NA NYAP1,missense_variant,p.Arg81His,ENST00000300179,NM_173564.4;NYAP1,missense_variant,p.Arg24His,ENST00000454988,;AC092849.2,upstream_gene_variant,,ENST00000663999,;NYAP1,upstream_gene_variant,,ENST00000489641,;NYAP1,upstream_gene_variant,,ENST00000496985,;,regulatory_region_variant,,ENSR00000215800,; A ENSG00000166924 ENST00000300179 Transcript missense_variant 401/3584 242/2526 81/841 R/H cGc/cAc 1 NA 1 NYAP1 HGNC HGNC:22009 protein_coding YES CCDS5696.1 ENSP00000300179 Q6ZVC0.110 UPI00001C0A2E NM_173564.4 deleterious(0) probably_damaging(0.997) 3/7 Pfam:PF15439,PANTHER:PTHR22633,PANTHER:PTHR22633:SF2,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 2 NA NA NA . CGC . 3477.6 NA NA NA NA NA NA NA NA NA 100486994 FBXO24 26261 . GRCh38 chr7 100600129 100600129 + Silent SNP C C T rs139661511 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1419C>T p.Cys473= p.C473= ENST00000427939 9/10 NA NA NA NA NA NA FBXO24,synonymous_variant,p.Cys435=,ENST00000241071,NM_033506.3;FBXO24,synonymous_variant,p.Cys473=,ENST00000427939,NM_012172.5;FBXO24,synonymous_variant,p.Cys423=,ENST00000468962,NM_001163499.2;PCOLCE,upstream_gene_variant,,ENST00000223061,NM_002593.4;FBXO24,downstream_gene_variant,,ENST00000465843,;PCOLCE-AS1,non_coding_transcript_exon_variant,,ENST00000442166,;PCOLCE-AS1,downstream_gene_variant,,ENST00000446022,;PCOLCE-AS1,downstream_gene_variant,,ENST00000653812,;PCOLCE,upstream_gene_variant,,ENST00000496269,;FBXO24,intron_variant,,ENST00000488079,;PCOLCE,upstream_gene_variant,,ENST00000460002,;PCOLCE,upstream_gene_variant,,ENST00000462260,;PCOLCE,upstream_gene_variant,,ENST00000468214,;PCOLCE,upstream_gene_variant,,ENST00000482863,;PCOLCE,upstream_gene_variant,,ENST00000487172,;PCOLCE,upstream_gene_variant,,ENST00000490909,;,regulatory_region_variant,,ENSR00000833648,; T ENSG00000106336 ENST00000427939 Transcript synonymous_variant 1431/2087 1419/1857 473/618 C tgC/tgT rs139661511 1 NA 1 FBXO24 HGNC HGNC:13595 protein_coding YES CCDS5699.2 ENSP00000416558 O75426.156 UPI00017A803B NM_012172.5 9/10 Low_complexity_(Seg):seg,PANTHER:PTHR47004,Gene3D:2.130.10.30,Superfamily:SSF50985 NA NA NA NA NA NA NA 0.0002271 NA NA NA NA NA LOW NA SNV 2 NA NA NA . GCG . 1693.6 5.769e-05 0.0001444 0.0001571 NA NA NA 1.986e-05 0.0007246 NA 100600129 ZAN 7455 . GRCh38 chr7 100773854 100773854 + Frame_Shift_Del DEL G G - rs1414743526 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.5768del p.Cys1923PhefsTer18 p.C1923Ffs*18 ENST00000613979 31/48 NA NA NA NA NA NA ZAN,frameshift_variant,p.Cys1923PhefsTer18,ENST00000613979,NM_003386.3;ZAN,frameshift_variant,p.Cys1923PhefsTer18,ENST00000618565,;ZAN,frameshift_variant,p.Cys1923PhefsTer18,ENST00000620596,NM_173059.3;ZAN,frameshift_variant,p.Cys1923PhefsTer18,ENST00000546292,;ZAN,frameshift_variant,p.Cys1923PhefsTer18,ENST00000542585,;ZAN,frameshift_variant,p.Cys1923PhefsTer18,ENST00000538115,;ZAN,frameshift_variant,p.Cys1923PhefsTer18,ENST00000546213,;ZAN,non_coding_transcript_exon_variant,,ENST00000620868,; - ENSG00000146839 ENST00000613979 Transcript frameshift_variant 5964/8700 5768/8439 1923/2812 C/X tGt/tt rs1414743526 1 NA 1 ZAN HGNC HGNC:12857 protein_coding YES CCDS47664.2 ENSP00000480750 Q9Y493.169 UPI000441C79E NM_003386.3 31/48 Pfam:PF12714,PANTHER:PTHR11339,PANTHER:PTHR11339:SF374,SMART:SM00214,SMART:SM00216 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 NA NA NA . TTGT . 7607.03 NA NA NA NA NA NA NA NA NA 100773853 SRRT 51593 . GRCh38 chr7 100888368 100888368 + Missense_Mutation SNP G G T rs150948431 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2540G>T p.Gly847Val p.G847V ENST00000611405 19/20 NA NA NA NA NA NA SRRT,missense_variant,p.Gly847Val,ENST00000611405,NM_015908.6;SRRT,missense_variant,p.Gly846Val,ENST00000614484,NM_001128852.2;SRRT,missense_variant,p.Gly843Val,ENST00000618262,NM_001128853.2;SRRT,missense_variant,p.Gly842Val,ENST00000618411,NM_001128854.2;SRRT,missense_variant,p.Gly470Val,ENST00000448764,;ACHE,downstream_gene_variant,,ENST00000241069,NM_000665.5,NM_001367915.1;ACHE,downstream_gene_variant,,ENST00000302913,;UFSP1,downstream_gene_variant,,ENST00000388761,NM_001015072.4;ACHE,downstream_gene_variant,,ENST00000411582,NM_001302621.3;ACHE,downstream_gene_variant,,ENST00000412389,NM_001367919.2,NM_001367918.1,NM_001367917.1;ACHE,downstream_gene_variant,,ENST00000419336,NM_001282449.2;ACHE,downstream_gene_variant,,ENST00000426415,;ACHE,downstream_gene_variant,,ENST00000428317,NM_001302622.2;ACHE,downstream_gene_variant,,ENST00000430554,;UFSP1,downstream_gene_variant,,ENST00000672365,;SRRT,non_coding_transcript_exon_variant,,ENST00000478693,;SRRT,non_coding_transcript_exon_variant,,ENST00000477529,;SRRT,intron_variant,,ENST00000445337,;SRRT,downstream_gene_variant,,ENST00000423692,;ACHE,downstream_gene_variant,,ENST00000440755,;ACHE,downstream_gene_variant,,ENST00000442452,;SRRT,downstream_gene_variant,,ENST00000449389,;ACHE,downstream_gene_variant,,ENST00000454485,;SRRT,downstream_gene_variant,,ENST00000460194,;SRRT,downstream_gene_variant,,ENST00000466432,;SRRT,downstream_gene_variant,,ENST00000469602,;SRRT,downstream_gene_variant,,ENST00000474896,;SRRT,downstream_gene_variant,,ENST00000487311,;SRRT,downstream_gene_variant,,ENST00000641476,;ACHE,downstream_gene_variant,,ENST00000651875,; T ENSG00000087087 ENST00000611405 Transcript missense_variant 2784/2990 2540/2631 847/876 G/V gGg/gTg rs150948431 1 NA 1 SRRT HGNC HGNC:24101 protein_coding YES CCDS34709.1 ENSP00000480421 Q9BXP5.165 UPI0000126098 NM_015908.6 deleterious(0.02) possibly_damaging(0.833) 19/20 PDB-ENSP_mappings:5oo6.C,PDB-ENSP_mappings:5oo6.F,PDB-ENSP_mappings:5oo6.I,PDB-ENSP_mappings:5oo6.L,PDB-ENSP_mappings:5oo6.O,PDB-ENSP_mappings:5oo6.R,PDB-ENSP_mappings:5oo6.U,PDB-ENSP_mappings:5oo6.X,Pfam:PF04959,PANTHER:PTHR13165,PANTHER:PTHR13165:SF0 2e-04 NA NA NA NA 0.001 NA 0.000227 0.0001163 NA NA NA NA MODERATE 1 SNV 1 NA NA NA . GGG . 3925.6 2.39e-05 NA NA NA NA NA 5.287e-05 NA NA 100888368 MUC3A 57876 . GRCh38 chr7 100949646 100949646 + Missense_Mutation SNP G G A rs73163737 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.22G>A p.Gly8Ser p.G8S ENST00000379458 1/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Gly8Ser,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Gly8Ser,ENST00000483366,;,regulatory_region_variant,,ENSR00000833758,; A ENSG00000169894 ENST00000379458 Transcript missense_variant 113/11248 22/9972 8/3323 G/S Ggc/Agc rs73163737 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(0.24) unknown(0) 1/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Cleavage_site_(Signalp):SignalP-noTM,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . CGG . 628.6 0.0001264 0.0002341 3.808e-05 0.0002325 NA 0.0001538 0.0001785 0.0004394 NA 100949646 MUC3A 57876 . GRCh38 chr7 100949649 100949649 + Missense_Mutation SNP C C A rs73163738 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.25C>A p.Leu9Ile p.L9I ENST00000379458 1/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Leu9Ile,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Leu9Ile,ENST00000483366,;,regulatory_region_variant,,ENSR00000833758,; A ENSG00000169894 ENST00000379458 Transcript missense_variant 116/11248 25/9972 9/3323 L/I Ctc/Atc rs73163738 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(0.21) unknown(0) 1/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Cleavage_site_(Signalp):SignalP-noTM,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . CCT . 628.6 9.38e-05 0.0001148 3.79e-05 NA NA 0.0001521 0.0001468 0.0004369 NA 100949649 MUC3A 57876 . GRCh38 chr7 100949667 100949667 + Missense_Mutation SNP G G T rs78614597 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.43G>T p.Ala15Ser p.A15S ENST00000379458 1/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Ala15Ser,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Ala15Ser,ENST00000483366,;,regulatory_region_variant,,ENSR00000833758,; T ENSG00000169894 ENST00000379458 Transcript missense_variant 134/11248 43/9972 15/3323 A/S Gcc/Tcc rs78614597 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(0.13) unknown(0) 1/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Cleavage_site_(Signalp):SignalP-noTM NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . GGC . 706.6 1.278e-05 NA NA NA NA NA 2.997e-05 NA NA 100949667 MUC3A 57876 . GRCh38 chr7 100949675 100949675 + Silent SNP G G A rs76308179 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.51G>A p.Pro17= p.P17= ENST00000379458 1/12 NA NA NA NA NA NA MUC3A,synonymous_variant,p.Pro17=,ENST00000379458,NM_005960.2;MUC3A,synonymous_variant,p.Pro17=,ENST00000483366,;,regulatory_region_variant,,ENSR00000833758,; A ENSG00000169894 ENST00000379458 Transcript synonymous_variant 142/11248 51/9972 17/3323 P ccG/ccA rs76308179,COSV100115749 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 1/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA LOW 1 SNV 5 NA 0,1 NA NA . CGT . 637.6 6.51e-06 NA NA NA NA NA 1.528e-05 NA NA 100949675 MUC3A 57876 . GRCh38 chr7 100949676 100949676 + Missense_Mutation SNP T T G rs75384714 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.52T>G p.Trp18Gly p.W18G ENST00000379458 1/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Trp18Gly,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Trp18Gly,ENST00000483366,;,regulatory_region_variant,,ENSR00000833758,; G ENSG00000169894 ENST00000379458 Transcript missense_variant 143/11248 52/9972 18/3323 W/G Tgg/Ggg rs75384714,COSV60214171 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(0.63) unknown(0) 1/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 5 NA 0,1 NA NA . GTG . 637.6 6.488e-06 NA NA NA NA NA 1.521e-05 NA NA 100949676 MUC3A 57876 . GRCh38 chr7 100952808 100952808 + Silent SNP T T A rs761866566 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1029T>A p.Thr343= p.T343= ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,synonymous_variant,p.Thr343=,ENST00000379458,NM_005960.2;MUC3A,synonymous_variant,p.Thr343=,ENST00000483366,; A ENSG00000169894 ENST00000379458 Transcript synonymous_variant 1120/11248 1029/9972 343/3323 T acT/acA rs761866566 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . CTG . 375.6 6.565e-06 0.0001251 NA NA NA NA NA NA NA 100952808 MUC3A 57876 . GRCh38 chr7 100952811 100952811 + Silent SNP C C G rs750724484 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1032C>G p.Val344= p.V344= ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,synonymous_variant,p.Val344=,ENST00000379458,NM_005960.2;MUC3A,synonymous_variant,p.Val344=,ENST00000483366,; G ENSG00000169894 ENST00000379458 Transcript synonymous_variant 1123/11248 1032/9972 344/3323 V gtC/gtG rs750724484 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . TCA . 423.6 NA NA NA NA NA NA NA NA NA 100952811 MUC3A 57876 . GRCh38 chr7 100952813 100952813 + Missense_Mutation SNP C C A rs766207482 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1034C>A p.Thr345Lys p.T345K ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Thr345Lys,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Thr345Lys,ENST00000483366,; A ENSG00000169894 ENST00000379458 Transcript missense_variant 1125/11248 1034/9972 345/3323 T/K aCa/aAa rs766207482 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(0.07) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . ACA . 438.6 6.681e-06 0.0001275 NA NA NA NA NA NA NA 100952813 MUC3A 57876 . GRCh38 chr7 100952816 100952816 + Missense_Mutation SNP A A G rs754928998 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1037A>G p.Asp346Gly p.D346G ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Asp346Gly,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Asp346Gly,ENST00000483366,; G ENSG00000169894 ENST00000379458 Transcript missense_variant 1128/11248 1037/9972 346/3323 D/G gAc/gGc rs754928998,COSV60212380 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(0.16) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 5 NA 0,1 NA NA . GAC . 477.6 6.763e-06 0.0001289 NA NA NA NA NA NA NA 100952816 MUC3A 57876 . GRCh38 chr7 100952829 100952829 + Missense_Mutation SNP A A C rs1457218478 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1050A>C p.Lys350Asn p.K350N ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Lys350Asn,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Lys350Asn,ENST00000483366,; C ENSG00000169894 ENST00000379458 Transcript missense_variant 1141/11248 1050/9972 350/3323 K/N aaA/aaC rs1457218478 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(0.05) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . AAA . 909.6 NA NA NA NA NA NA NA NA NA 100952829 MUC3A 57876 . GRCh38 chr7 100952832 100952833 + Frame_Shift_Ins INS - - AG rs1385837141 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1053_1054insAG p.Ala352ArgfsTer7 p.A352Rfs*7 ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,frameshift_variant,p.Ala352ArgfsTer7,ENST00000379458,NM_005960.2;MUC3A,frameshift_variant,p.Ala352ArgfsTer7,ENST00000483366,; AG ENSG00000169894 ENST00000379458 Transcript frameshift_variant 1144-1145/11248 1053-1054/9972 351-352/3323 -/X -/AG rs1385837141 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 insertion 5 NA NA NA . TCG . 1035.64 NA NA NA NA NA NA NA NA NA 100952832 MUC3A 57876 . GRCh38 chr7 100952838 100952838 + Silent SNP C C T rs79412130 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1059C>T p.Tyr353= p.Y353= ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,synonymous_variant,p.Tyr353=,ENST00000379458,NM_005960.2;MUC3A,synonymous_variant,p.Tyr353=,ENST00000483366,; T ENSG00000169894 ENST00000379458 Transcript synonymous_variant 1150/11248 1059/9972 353/3323 Y taC/taT rs79412130 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . ACT . 1518.6 NA NA NA NA NA NA NA NA NA 100952838 MUC3A 57876 . GRCh38 chr7 100952845 100952845 + Missense_Mutation SNP A A G rs1222497409 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1066A>G p.Ser356Gly p.S356G ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Ser356Gly,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Ser356Gly,ENST00000483366,; G ENSG00000169894 ENST00000379458 Transcript missense_variant 1157/11248 1066/9972 356/3323 S/G Agt/Ggt rs1222497409,COSV60223922 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(0.12) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 5 NA 0,1 NA NA . AAG . 417.6 NA NA NA NA NA NA NA NA NA 100952845 MUC3A 57876 . GRCh38 chr7 100952846 100952846 + Missense_Mutation SNP G G T rs1247094027 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1067G>T p.Ser356Ile p.S356I ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Ser356Ile,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Ser356Ile,ENST00000483366,; T ENSG00000169894 ENST00000379458 Transcript missense_variant 1158/11248 1067/9972 356/3323 S/I aGt/aTt rs1247094027,COSV60223925 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 deleterious_low_confidence(0.01) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 5 NA 0,1 NA NA . AGT . 432.6 NA NA NA NA NA NA NA NA NA 100952846 MUC3A 57876 . GRCh38 chr7 100952848 100952848 + Missense_Mutation SNP A A T rs1482594762 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1069A>T p.Met357Leu p.M357L ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Met357Leu,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Met357Leu,ENST00000483366,; T ENSG00000169894 ENST00000379458 Transcript missense_variant 1160/11248 1069/9972 357/3323 M/L Atg/Ttg rs1482594762,COSV60223929 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(0.3) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 5 NA 0,1 NA NA . TAT . 342.6 NA NA NA NA NA NA NA NA NA 100952848 MUC3A 57876 . GRCh38 chr7 100952863 100952864 + In_Frame_Ins INS - - CCC rs1342188961 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1086_1087insCCC p.Ser362_Thr363insPro p.S362_T363insP ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,inframe_insertion,p.Ser362_Thr363insPro,ENST00000379458,NM_005960.2;MUC3A,inframe_insertion,p.Ser362_Thr363insPro,ENST00000483366,; CCC ENSG00000169894 ENST00000379458 Transcript inframe_insertion 1175-1176/11248 1084-1085/9972 362/3323 S/SP tcc/tCCCcc rs1342188961 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 insertion 5 2 NA NA . GTC . 351.64 NA NA NA NA NA NA NA NA NA 100952863 MUC3A 57876 . GRCh38 chr7 100952865 100952865 + Silent SNP C C T rs74715834 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1086C>T p.Ser362= p.S362= ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,synonymous_variant,p.Ser362=,ENST00000379458,NM_005960.2;MUC3A,synonymous_variant,p.Ser362=,ENST00000483366,; T ENSG00000169894 ENST00000379458 Transcript synonymous_variant 1177/11248 1086/9972 362/3323 S tcC/tcT rs74715834,COSV60215422 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA LOW 1 SNV 5 NA 0,1 NA NA . CCA . 1992.6 NA NA NA NA NA NA NA NA NA 100952865 MUC3A 57876 . GRCh38 chr7 100952867 100952867 + Missense_Mutation SNP C C T rs139308151 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1088C>T p.Thr363Ile p.T363I ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Thr363Ile,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Thr363Ile,ENST00000483366,; T ENSG00000169894 ENST00000379458 Transcript missense_variant 1179/11248 1088/9972 363/3323 T/I aCa/aTa rs139308151,COSV60214412 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 deleterious_low_confidence(0.02) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 5 NA 0,1 NA NA . ACA . 2101.64 NA NA NA NA NA NA NA NA NA 100952867 MUC3A 57876 . GRCh38 chr7 100952868 100952868 + Silent SNP A A G rs146219126 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1089A>G p.Thr363= p.T363= ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,synonymous_variant,p.Thr363=,ENST00000379458,NM_005960.2;MUC3A,synonymous_variant,p.Thr363=,ENST00000483366,; G ENSG00000169894 ENST00000379458 Transcript synonymous_variant 1180/11248 1089/9972 363/3323 T acA/acG rs146219126 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . CAG . 1778.04 NA NA NA NA NA NA NA NA NA 100952868 MUC3A 57876 . GRCh38 chr7 100952871 100952871 + Missense_Mutation SNP G G C rs74435283 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1092G>C p.Glu364Asp p.E364D ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Glu364Asp,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Glu364Asp,ENST00000483366,; C ENSG00000169894 ENST00000379458 Transcript missense_variant 1183/11248 1092/9972 364/3323 E/D gaG/gaC rs74435283,COSV60223934 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(0.22) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 5 NA 0,1 NA NA . AGA . 120.6 NA NA NA NA NA NA NA NA NA 100952871 MUC3A 57876 . GRCh38 chr7 100952875 100952875 + Missense_Mutation SNP T T A rs796491364 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1096T>A p.Ser366Thr p.S366T ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Ser366Thr,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Ser366Thr,ENST00000483366,; A ENSG00000169894 ENST00000379458 Transcript missense_variant 1187/11248 1096/9972 366/3323 S/T Tct/Act rs796491364 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(0.55) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . TTC . 189.6 NA NA NA NA NA NA NA NA NA 100952875 MUC3A 57876 . GRCh38 chr7 100952917 100952917 + Missense_Mutation SNP G G C rs1233144927 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1138G>C p.Ala380Pro p.A380P ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Ala380Pro,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Ala380Pro,ENST00000483366,; C ENSG00000169894 ENST00000379458 Transcript missense_variant 1229/11248 1138/9972 380/3323 A/P Gcc/Ccc rs1233144927 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(0.18) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . AGC . 66.6 NA NA NA NA NA NA NA NA NA 100952917 MUC3A 57876 . GRCh38 chr7 100952919 100952919 + Silent SNP C C T rs1282502013 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1140C>T p.Ala380= p.A380= ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,synonymous_variant,p.Ala380=,ENST00000379458,NM_005960.2;MUC3A,synonymous_variant,p.Ala380=,ENST00000483366,; T ENSG00000169894 ENST00000379458 Transcript synonymous_variant 1231/11248 1140/9972 380/3323 A gcC/gcT rs1282502013,COSV100114851 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA LOW 1 SNV 5 NA 0,1 NA NA . CCA . 72.6 NA NA NA NA NA NA NA NA NA 100952919 MUC3A 57876 . GRCh38 chr7 100952921 100952921 + Missense_Mutation SNP C C T rs374961892 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1142C>T p.Thr381Met p.T381M ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Thr381Met,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Thr381Met,ENST00000483366,; T ENSG00000169894 ENST00000379458 Transcript missense_variant 1233/11248 1142/9972 381/3323 T/M aCg/aTg rs374961892,COSV60224244 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(0.14) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 5 NA 0,1 NA NA . ACG . 60.6 NA NA NA NA NA NA NA NA NA 100952921 MUC3A 57876 . GRCh38 chr7 100952930 100952930 + Missense_Mutation SNP T T C rs76035900 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1151T>C p.Met384Thr p.M384T ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Met384Thr,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Met384Thr,ENST00000483366,; C ENSG00000169894 ENST00000379458 Transcript missense_variant 1242/11248 1151/9972 384/3323 M/T aTg/aCg rs76035900,COSV100114852 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(1) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 5 NA 0,1 NA NA . ATG . 3990.6 NA NA NA NA NA NA NA NA NA 100952930 MUC3A 57876 . GRCh38 chr7 100952931 100952931 + Missense_Mutation SNP G G C rs146166922 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1152G>C p.Met384Ile p.M384I ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Met384Ile,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Met384Ile,ENST00000483366,; C ENSG00000169894 ENST00000379458 Transcript missense_variant 1243/11248 1152/9972 384/3323 M/I atG/atC rs146166922 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(0.21) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . TGA . 3978.6 NA NA NA NA NA NA NA NA NA 100952931 MUC3A 57876 . GRCh38 chr7 100952937 100952937 + Silent SNP C C T rs775932110 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1158C>T p.Asn386= p.N386= ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,synonymous_variant,p.Asn386=,ENST00000379458,NM_005960.2;MUC3A,synonymous_variant,p.Asn386=,ENST00000483366,; T ENSG00000169894 ENST00000379458 Transcript synonymous_variant 1249/11248 1158/9972 386/3323 N aaC/aaT rs775932110,COSV100114859 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA LOW 1 SNV 5 NA 0,1 NA NA . ACT . 2118.6 NA NA NA NA NA NA NA NA NA 100952937 MUC3A 57876 . GRCh38 chr7 100952944 100952949 + In_Frame_Del DEL ACCACC ACCACC - rs1361292078 NA HCI-EC-23 NORMAL ACCACC ACCACC NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1170_1175del p.Thr391_Thr392del p.T391_T392del ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,inframe_deletion,p.Thr391_Thr392del,ENST00000379458,NM_005960.2;MUC3A,inframe_deletion,p.Thr391_Thr392del,ENST00000483366,; - ENSG00000169894 ENST00000379458 Transcript inframe_deletion 1256-1261/11248 1165-1170/9972 389-390/3323 TT/- ACCACC/- rs1361292078 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 deletion 5 5 NA NA . TAACCACCA . 1942.6 NA NA NA NA NA NA NA NA NA 100952943 MUC3A 57876 . GRCh38 chr7 100952960 100952960 + Missense_Mutation SNP T T C rs796949757 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1181T>C p.Ile394Thr p.I394T ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Ile394Thr,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Ile394Thr,ENST00000483366,; C ENSG00000169894 ENST00000379458 Transcript missense_variant 1272/11248 1181/9972 394/3323 I/T aTc/aCc rs796949757,COSV60223416 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(1) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 5 NA 0,1 NA NA . ATC . 788.6 NA NA NA NA NA NA NA NA NA 100952960 MUC3A 57876 . GRCh38 chr7 100952961 100952961 + Silent SNP C C A rs79112841 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1182C>A p.Ile394= p.I394= ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,synonymous_variant,p.Ile394=,ENST00000379458,NM_005960.2;MUC3A,synonymous_variant,p.Ile394=,ENST00000483366,; A ENSG00000169894 ENST00000379458 Transcript synonymous_variant 1273/11248 1182/9972 394/3323 I atC/atA rs79112841,COSV60210074 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA LOW 1 SNV 5 NA 0,1 NA NA . TCT . 1913.6 NA NA NA NA NA NA NA NA NA 100952961 MUC3A 57876 . GRCh38 chr7 100952962 100952962 + Missense_Mutation SNP T T A rs80036331 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1183T>A p.Ser395Thr p.S395T ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Ser395Thr,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Ser395Thr,ENST00000483366,; A ENSG00000169894 ENST00000379458 Transcript missense_variant 1274/11248 1183/9972 395/3323 S/T Tcc/Acc rs80036331 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(1) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . CTC . 4085.6 NA NA NA NA NA NA NA NA NA 100952962 MUC3A 57876 . GRCh38 chr7 100952964 100952964 + Silent SNP C C A rs74878158 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1185C>A p.Ser395= p.S395= ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,synonymous_variant,p.Ser395=,ENST00000379458,NM_005960.2;MUC3A,synonymous_variant,p.Ser395=,ENST00000483366,; A ENSG00000169894 ENST00000379458 Transcript synonymous_variant 1276/11248 1185/9972 395/3323 S tcC/tcA rs74878158,COSV60215427 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA LOW 1 SNV 5 NA 0,1 NA NA . CCT . 1722.6 NA NA NA NA NA NA NA NA NA 100952964 MUC3A 57876 . GRCh38 chr7 100952970 100952970 + Missense_Mutation SNP C C G rs879069614 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1191C>G p.His397Gln p.H397Q ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.His397Gln,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.His397Gln,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; G ENSG00000169894 ENST00000379458 Transcript missense_variant 1282/11248 1191/9972 397/3323 H/Q caC/caG rs879069614,COSV60216881 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(0.19) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 5 NA 0,1 NA NA . ACA . 449.6 NA NA NA NA NA NA NA NA NA 100952970 MUC3A 57876 . GRCh38 chr7 100952975 100952975 + Missense_Mutation SNP C C G rs1175435381 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1196C>G p.Thr399Ser p.T399S ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Thr399Ser,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Thr399Ser,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; G ENSG00000169894 ENST00000379458 Transcript missense_variant 1287/11248 1196/9972 399/3323 T/S aCt/aGt rs1175435381 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(0.11) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . ACT . 452.6 NA NA NA NA NA NA NA NA NA 100952975 MUC3A 57876 . GRCh38 chr7 100952978 100952978 + Missense_Mutation SNP C C T rs1156778403 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1199C>T p.Pro400Leu p.P400L ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Pro400Leu,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Pro400Leu,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; T ENSG00000169894 ENST00000379458 Transcript missense_variant 1290/11248 1199/9972 400/3323 P/L cCc/cTc rs1156778403 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(0.05) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . CCC . 458.6 NA NA NA NA NA NA NA NA NA 100952978 MUC3A 57876 . GRCh38 chr7 100952979 100952979 + Silent SNP C C G rs78047302 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1200C>G p.Pro400= p.P400= ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,synonymous_variant,p.Pro400=,ENST00000379458,NM_005960.2;MUC3A,synonymous_variant,p.Pro400=,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; G ENSG00000169894 ENST00000379458 Transcript synonymous_variant 1291/11248 1200/9972 400/3323 P ccC/ccG rs78047302 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . CCA . 477.6 NA NA NA NA NA NA NA NA NA 100952979 MUC3A 57876 . GRCh38 chr7 100952981 100952981 + Missense_Mutation SNP G G A rs1458434138 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1202G>A p.Ser401Asn p.S401N ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Ser401Asn,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Ser401Asn,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; A ENSG00000169894 ENST00000379458 Transcript missense_variant 1293/11248 1202/9972 401/3323 S/N aGc/aAc rs1458434138 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(0.21) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . AGC . 407.6 NA NA NA NA NA NA NA NA NA 100952981 MUC3A 57876 . GRCh38 chr7 100952991 100952991 + Silent SNP A A T rs72494465 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1212A>T p.Ser404= p.S404= ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,synonymous_variant,p.Ser404=,ENST00000379458,NM_005960.2;MUC3A,synonymous_variant,p.Ser404=,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; T ENSG00000169894 ENST00000379458 Transcript synonymous_variant 1303/11248 1212/9972 404/3323 S tcA/tcT rs72494465 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . CAT . 3451.6 NA NA NA NA NA NA NA NA NA 100952991 MUC3A 57876 . GRCh38 chr7 100952995 100952995 + Missense_Mutation SNP A A G rs796126882 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1216A>G p.Thr406Ala p.T406A ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Thr406Ala,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Thr406Ala,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; G ENSG00000169894 ENST00000379458 Transcript missense_variant 1307/11248 1216/9972 406/3323 T/A Acc/Gcc rs796126882,COSV60217933 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(0.36) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 5 NA 0,1 NA NA . AAC . 840.6 NA NA NA NA NA NA NA NA NA 100952995 MUC3A 57876 . GRCh38 chr7 100953001 100953001 + Missense_Mutation SNP T T C rs73163754 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1222T>C p.Tyr408His p.Y408H ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Tyr408His,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Tyr408His,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; C ENSG00000169894 ENST00000379458 Transcript missense_variant 1313/11248 1222/9972 408/3323 Y/H Tac/Cac rs73163754,COSV60210375 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(0.08) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 5 NA 0,1 NA NA . CTA . 1182.6 NA NA NA NA NA NA NA NA NA 100953001 MUC3A 57876 . GRCh38 chr7 100953009 100953009 + Silent SNP A A C rs528006790 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1230A>C p.Thr410= p.T410= ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,synonymous_variant,p.Thr410=,ENST00000379458,NM_005960.2;MUC3A,synonymous_variant,p.Thr410=,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; C ENSG00000169894 ENST00000379458 Transcript synonymous_variant 1321/11248 1230/9972 410/3323 T acA/acC rs528006790 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . CAG . 932.6 NA NA NA NA NA NA NA NA NA 100953009 MUC3A 57876 . GRCh38 chr7 100953019 100953019 + Missense_Mutation SNP T T C rs1399647142 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1240T>C p.Ser414Pro p.S414P ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Ser414Pro,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Ser414Pro,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; C ENSG00000169894 ENST00000379458 Transcript missense_variant 1331/11248 1240/9972 414/3323 S/P Tcc/Ccc rs1399647142 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(0.11) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . ATC . 869.6 NA NA NA NA NA NA NA NA NA 100953019 MUC3A 57876 . GRCh38 chr7 100953029 100953029 + Missense_Mutation SNP C C T rs1425030376 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1250C>T p.Ala417Val p.A417V ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Ala417Val,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Ala417Val,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; T ENSG00000169894 ENST00000379458 Transcript missense_variant 1341/11248 1250/9972 417/3323 A/V gCc/gTc rs1425030376 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(0.06) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . GCC . 845.6 NA NA NA NA NA NA NA NA NA 100953029 MUC3A 57876 . GRCh38 chr7 100953040 100953040 + Missense_Mutation SNP C C G rs1472030551 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1261C>G p.Leu421Val p.L421V ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Leu421Val,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Leu421Val,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; G ENSG00000169894 ENST00000379458 Transcript missense_variant 1352/11248 1261/9972 421/3323 L/V Ctt/Gtt rs1472030551 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(0.56) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . ACT . 1436.6 NA NA NA NA NA NA NA NA NA 100953040 MUC3A 57876 . GRCh38 chr7 100953041 100953041 + Missense_Mutation SNP T T G rs1187836644 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1262T>G p.Leu421Arg p.L421R ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Leu421Arg,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Leu421Arg,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; G ENSG00000169894 ENST00000379458 Transcript missense_variant 1353/11248 1262/9972 421/3323 L/R cTt/cGt rs1187836644 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(0.35) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . CTT . 818.6 NA NA NA NA NA NA NA NA NA 100953041 MUC3A 57876 . GRCh38 chr7 100953060 100953060 + Silent SNP T T C rs1226360862 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1281T>C p.Thr427= p.T427= ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,synonymous_variant,p.Thr427=,ENST00000379458,NM_005960.2;MUC3A,synonymous_variant,p.Thr427=,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; C ENSG00000169894 ENST00000379458 Transcript synonymous_variant 1372/11248 1281/9972 427/3323 T acT/acC rs1226360862 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . CTA . 1475.6 NA NA NA NA NA NA NA NA NA 100953060 MUC3A 57876 . GRCh38 chr7 100953063 100953063 + Missense_Mutation SNP G G A rs1358217755 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1284G>A p.Met428Ile p.M428I ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Met428Ile,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Met428Ile,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; A ENSG00000169894 ENST00000379458 Transcript missense_variant 1375/11248 1284/9972 428/3323 M/I atG/atA rs1358217755 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(0.82) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . TGG . 1018.6 NA NA NA NA NA NA NA NA NA 100953063 MUC3A 57876 . GRCh38 chr7 100953074 100953074 + Missense_Mutation SNP C C T rs1245788217 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1295C>T p.Thr432Ile p.T432I ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Thr432Ile,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Thr432Ile,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; T ENSG00000169894 ENST00000379458 Transcript missense_variant 1386/11248 1295/9972 432/3323 T/I aCa/aTa rs1245788217 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(0.06) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . ACA . 296.6 NA NA NA NA NA NA NA NA NA 100953074 MUC3A 57876 . GRCh38 chr7 100953079 100953079 + Missense_Mutation SNP A A G rs1376511609 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1300A>G p.Met434Val p.M434V ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Met434Val,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Met434Val,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; G ENSG00000169894 ENST00000379458 Transcript missense_variant 1391/11248 1300/9972 434/3323 M/V Atg/Gtg rs1376511609 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(0.49) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . CAT . 189.6 NA NA NA NA NA NA NA NA NA 100953079 MUC3A 57876 . GRCh38 chr7 100953084 100953084 + Silent SNP C C T rs1329368036 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1305C>T p.Thr435= p.T435= ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,synonymous_variant,p.Thr435=,ENST00000379458,NM_005960.2;MUC3A,synonymous_variant,p.Thr435=,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; T ENSG00000169894 ENST00000379458 Transcript synonymous_variant 1396/11248 1305/9972 435/3323 T acC/acT rs1329368036 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . CCC . 121.6 NA NA NA NA NA NA NA NA NA 100953084 MUC3A 57876 . GRCh38 chr7 100953323 100953323 + Missense_Mutation SNP T T C rs1264037813 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1544T>C p.Val515Ala p.V515A ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Val515Ala,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Val515Ala,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; C ENSG00000169894 ENST00000379458 Transcript missense_variant 1635/11248 1544/9972 515/3323 V/A gTa/gCa rs1264037813 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(0.38) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . GTA . 88.6 NA NA NA NA NA NA NA NA NA 100953323 MUC3A 57876 . GRCh38 chr7 100953332 100953332 + Missense_Mutation SNP T T A rs1308124832 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1553T>A p.Leu518His p.L518H ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Leu518His,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Leu518His,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; A ENSG00000169894 ENST00000379458 Transcript missense_variant 1644/11248 1553/9972 518/3323 L/H cTc/cAc rs1308124832 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(0.37) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . CTC . 217.6 NA NA NA NA NA NA NA NA NA 100953332 MUC3A 57876 . GRCh38 chr7 100953341 100953341 + Missense_Mutation SNP C C T rs1307542259 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1562C>T p.Pro521Leu p.P521L ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Pro521Leu,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Pro521Leu,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; T ENSG00000169894 ENST00000379458 Transcript missense_variant 1653/11248 1562/9972 521/3323 P/L cCt/cTt rs1307542259 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 deleterious_low_confidence(0.04) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . CCT . 1366.6 NA NA NA NA NA NA NA NA NA 100953341 MUC3A 57876 . GRCh38 chr7 100953342 100953342 + Silent SNP T T G rs1388550494 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1563T>G p.Pro521= p.P521= ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,synonymous_variant,p.Pro521=,ENST00000379458,NM_005960.2;MUC3A,synonymous_variant,p.Pro521=,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; G ENSG00000169894 ENST00000379458 Transcript synonymous_variant 1654/11248 1563/9972 521/3323 P ccT/ccG rs1388550494 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . CTA . 1423.6 NA NA NA NA NA NA NA NA NA 100953342 MUC3A 57876 . GRCh38 chr7 100953359 100953359 + Missense_Mutation SNP C C T rs986103920 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1580C>T p.Thr527Met p.T527M ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Thr527Met,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Thr527Met,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; T ENSG00000169894 ENST00000379458 Transcript missense_variant 1671/11248 1580/9972 527/3323 T/M aCg/aTg rs986103920 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(0.08) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . ACG . 1291.6 NA NA NA NA NA NA NA NA NA 100953359 MUC3A 57876 . GRCh38 chr7 100953371 100953371 + Missense_Mutation SNP C C A rs36187473 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1592C>A p.Ala531Glu p.A531E ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Ala531Glu,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Ala531Glu,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; A ENSG00000169894 ENST00000379458 Transcript missense_variant 1683/11248 1592/9972 531/3323 A/E gCa/gAa rs36187473 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(0.13) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . GCA . 1708.6 NA NA NA NA NA NA NA NA NA 100953371 MUC3A 57876 . GRCh38 chr7 100953387 100953387 + Silent SNP A A C rs1339595255 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1608A>C p.Ser536= p.S536= ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,synonymous_variant,p.Ser536=,ENST00000379458,NM_005960.2;MUC3A,synonymous_variant,p.Ser536=,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; C ENSG00000169894 ENST00000379458 Transcript synonymous_variant 1699/11248 1608/9972 536/3323 S tcA/tcC rs1339595255 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . CAT . 2937.6 NA NA NA NA NA NA NA NA NA 100953387 MUC3A 57876 . GRCh38 chr7 100953388 100953388 + Missense_Mutation SNP T T C rs1418082111 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1609T>C p.Ser537Pro p.S537P ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Ser537Pro,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Ser537Pro,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; C ENSG00000169894 ENST00000379458 Transcript missense_variant 1700/11248 1609/9972 537/3323 S/P Tct/Cct rs1418082111 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(0.09) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . ATC . 1893.6 NA NA NA NA NA NA NA NA NA 100953388 MUC3A 57876 . GRCh38 chr7 100953407 100953407 + Missense_Mutation SNP G G A rs1376383784 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1628G>A p.Ser543Asn p.S543N ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Ser543Asn,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Ser543Asn,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; A ENSG00000169894 ENST00000379458 Transcript missense_variant 1719/11248 1628/9972 543/3323 S/N aGt/aAt rs1376383784 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 deleterious_low_confidence(0.03) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . AGT . 993.6 NA NA NA NA NA NA NA NA NA 100953407 MUC3A 57876 . GRCh38 chr7 100953410 100953410 + Missense_Mutation SNP C C A rs1179228234 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1631C>A p.Ala544Asp p.A544D ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Ala544Asp,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Ala544Asp,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; A ENSG00000169894 ENST00000379458 Transcript missense_variant 1722/11248 1631/9972 544/3323 A/D gCt/gAt rs1179228234 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(0.33) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . GCT . 2047.6 NA NA NA NA NA NA NA NA NA 100953410 MUC3A 57876 . GRCh38 chr7 100953411 100953411 + Silent SNP T T C rs1480930000 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1632T>C p.Ala544= p.A544= ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,synonymous_variant,p.Ala544=,ENST00000379458,NM_005960.2;MUC3A,synonymous_variant,p.Ala544=,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; C ENSG00000169894 ENST00000379458 Transcript synonymous_variant 1723/11248 1632/9972 544/3323 A gcT/gcC rs1480930000 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . CTG . 1059.64 NA NA NA NA NA NA NA NA NA 100953411 MUC3A 57876 . GRCh38 chr7 100953412 100953412 + Missense_Mutation SNP G G A rs1262918211 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1633G>A p.Gly545Arg p.G545R ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Gly545Arg,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Gly545Arg,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; A ENSG00000169894 ENST00000379458 Transcript missense_variant 1724/11248 1633/9972 545/3323 G/R Ggg/Agg rs1262918211 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(0.21) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . TGG . 1016.04 NA NA NA NA NA NA NA NA NA 100953412 MUC3A 57876 . GRCh38 chr7 100953421 100953421 + Missense_Mutation SNP C C G rs1448338824 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1642C>G p.His548Asp p.H548D ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.His548Asp,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.His548Asp,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; G ENSG00000169894 ENST00000379458 Transcript missense_variant 1733/11248 1642/9972 548/3323 H/D Cac/Gac rs1448338824 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(0.22) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . TCA . 141.6 NA NA NA NA NA NA NA NA NA 100953421 MUC3A 57876 . GRCh38 chr7 100953432 100953432 + Silent SNP T T C rs1342277278 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1653T>C p.Ser551= p.S551= ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,synonymous_variant,p.Ser551=,ENST00000379458,NM_005960.2;MUC3A,synonymous_variant,p.Ser551=,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; C ENSG00000169894 ENST00000379458 Transcript synonymous_variant 1744/11248 1653/9972 551/3323 S agT/agC rs1342277278 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . GTA . 695.6 NA NA NA NA NA NA NA NA NA 100953432 MUC3A 57876 . GRCh38 chr7 100953442 100953442 + Missense_Mutation SNP C C G rs973989143 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1663C>G p.Pro555Ala p.P555A ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Pro555Ala,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Pro555Ala,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; G ENSG00000169894 ENST00000379458 Transcript missense_variant 1754/11248 1663/9972 555/3323 P/A Cct/Gct rs973989143 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(0.6) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . ACC . 689.6 NA NA NA NA NA NA NA NA NA 100953442 MUC3A 57876 . GRCh38 chr7 100953452 100953452 + Missense_Mutation SNP G G T rs1328386374 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1673G>T p.Ser558Ile p.S558I ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Ser558Ile,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Ser558Ile,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; T ENSG00000169894 ENST00000379458 Transcript missense_variant 1764/11248 1673/9972 558/3323 S/I aGc/aTc rs1328386374 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(0.11) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . AGC . 1014.6 NA NA NA NA NA NA NA NA NA 100953452 MUC3A 57876 . GRCh38 chr7 100953468 100953468 + Missense_Mutation SNP C C G rs36172564 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1689C>G p.His563Gln p.H563Q ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.His563Gln,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.His563Gln,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; G ENSG00000169894 ENST00000379458 Transcript missense_variant 1780/11248 1689/9972 563/3323 H/Q caC/caG rs36172564 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 deleterious_low_confidence(0.02) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . ACA . 1491.6 NA NA NA NA NA NA NA NA NA 100953468 MUC3A 57876 . GRCh38 chr7 100953482 100953482 + Missense_Mutation SNP C C A rs1470582614 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1703C>A p.Ser568Tyr p.S568Y ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Ser568Tyr,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Ser568Tyr,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; A ENSG00000169894 ENST00000379458 Transcript missense_variant 1794/11248 1703/9972 568/3323 S/Y tCc/tAc rs1470582614 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 deleterious_low_confidence(0) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . TCC . 1429.6 NA NA NA NA NA NA NA NA NA 100953482 MUC3A 57876 . GRCh38 chr7 100953486 100953486 + Silent SNP C C A rs1423608274 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1707C>A p.Thr569= p.T569= ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,synonymous_variant,p.Thr569=,ENST00000379458,NM_005960.2;MUC3A,synonymous_variant,p.Thr569=,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; A ENSG00000169894 ENST00000379458 Transcript synonymous_variant 1798/11248 1707/9972 569/3323 T acC/acA rs1423608274 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . CCC . 165.6 NA NA NA NA NA NA NA NA NA 100953486 MUC3A 57876 . GRCh38 chr7 100953487 100953487 + Missense_Mutation SNP C C A rs1168931086 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1708C>A p.Leu570Met p.L570M ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Leu570Met,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Leu570Met,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; A ENSG00000169894 ENST00000379458 Transcript missense_variant 1799/11248 1708/9972 570/3323 L/M Ctg/Atg rs1168931086 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(0.14) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . CCT . 76.6 NA NA NA NA NA NA NA NA NA 100953487 MUC3A 57876 . GRCh38 chr7 100953488 100953488 + Missense_Mutation SNP T T C rs1476606151 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1709T>C p.Leu570Pro p.L570P ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Leu570Pro,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Leu570Pro,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; C ENSG00000169894 ENST00000379458 Transcript missense_variant 1800/11248 1709/9972 570/3323 L/P cTg/cCg rs1476606151 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(0.3) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . CTG . 775.6 NA NA NA NA NA NA NA NA NA 100953488 MUC3A 57876 . GRCh38 chr7 100953489 100953489 + Silent SNP G G A rs1373229077 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1710G>A p.Leu570= p.L570= ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,synonymous_variant,p.Leu570=,ENST00000379458,NM_005960.2;MUC3A,synonymous_variant,p.Leu570=,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; A ENSG00000169894 ENST00000379458 Transcript synonymous_variant 1801/11248 1710/9972 570/3323 L ctG/ctA rs1373229077 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . TGG . 824.6 NA NA NA NA NA NA NA NA NA 100953489 MUC3A 57876 . GRCh38 chr7 100953490 100953490 + Missense_Mutation SNP G G T rs1186404164 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1711G>T p.Ala571Ser p.A571S ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Ala571Ser,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Ala571Ser,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; T ENSG00000169894 ENST00000379458 Transcript missense_variant 1802/11248 1711/9972 571/3323 A/S Gca/Tca rs1186404164 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(0.65) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . GGC . 113.6 NA NA NA NA NA NA NA NA NA 100953490 MUC3A 57876 . GRCh38 chr7 100953503 100953503 + Missense_Mutation SNP C C T rs1256117273 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1724C>T p.Thr575Ile p.T575I ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Thr575Ile,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Thr575Ile,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; T ENSG00000169894 ENST00000379458 Transcript missense_variant 1815/11248 1724/9972 575/3323 T/I aCc/aTc rs1256117273 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 deleterious_low_confidence(0.01) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . ACC . 1071.6 NA NA NA NA NA NA NA NA NA 100953503 MUC3A 57876 . GRCh38 chr7 100953506 100953506 + Missense_Mutation SNP C C A rs1216062665 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1727C>A p.Thr576Asn p.T576N ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Thr576Asn,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Thr576Asn,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; A ENSG00000169894 ENST00000379458 Transcript missense_variant 1818/11248 1727/9972 576/3323 T/N aCc/aAc rs1216062665 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(0.14) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . ACC . 1468.6 NA NA NA NA NA NA NA NA NA 100953506 MUC3A 57876 . GRCh38 chr7 100953516 100953516 + Silent SNP A A C rs1270924609 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1737A>C p.Thr579= p.T579= ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,synonymous_variant,p.Thr579=,ENST00000379458,NM_005960.2;MUC3A,synonymous_variant,p.Thr579=,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; C ENSG00000169894 ENST00000379458 Transcript synonymous_variant 1828/11248 1737/9972 579/3323 T acA/acC rs1270924609 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . CAA . 49.6 NA NA NA NA NA NA NA NA NA 100953516 MUC3A 57876 . GRCh38 chr7 100953519 100953519 + Silent SNP T T A rs1338987598 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1740T>A p.Thr580= p.T580= ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,synonymous_variant,p.Thr580=,ENST00000379458,NM_005960.2;MUC3A,synonymous_variant,p.Thr580=,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; A ENSG00000169894 ENST00000379458 Transcript synonymous_variant 1831/11248 1740/9972 580/3323 T acT/acA rs1338987598 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . CTT . 4791.6 NA NA NA NA NA NA NA NA NA 100953519 MUC3A 57876 . GRCh38 chr7 100953520 100953520 + Missense_Mutation SNP T T C rs1317226044 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1741T>C p.Ser581Pro p.S581P ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Ser581Pro,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Ser581Pro,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; C ENSG00000169894 ENST00000379458 Transcript missense_variant 1832/11248 1741/9972 581/3323 S/P Tcc/Ccc rs1317226044 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(0.22) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . TTC . 1152.6 NA NA NA NA NA NA NA NA NA 100953520 MUC3A 57876 . GRCh38 chr7 100953523 100953523 + Missense_Mutation SNP A A G rs1400144107 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1744A>G p.Thr582Ala p.T582A ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Thr582Ala,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Thr582Ala,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; G ENSG00000169894 ENST00000379458 Transcript missense_variant 1835/11248 1744/9972 582/3323 T/A Aca/Gca rs1400144107 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(0.63) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . CAC . 2982.6 NA NA NA NA NA NA NA NA NA 100953523 MUC3A 57876 . GRCh38 chr7 100953524 100953524 + Missense_Mutation SNP C C G rs1329925675 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1745C>G p.Thr582Arg p.T582R ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Thr582Arg,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Thr582Arg,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; G ENSG00000169894 ENST00000379458 Transcript missense_variant 1836/11248 1745/9972 582/3323 T/R aCa/aGa rs1329925675 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 deleterious_low_confidence(0.01) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . ACA . 1266.6 NA NA NA NA NA NA NA NA NA 100953524 MUC3A 57876 . GRCh38 chr7 100953527 100953527 + Missense_Mutation SNP C C A rs1397648004 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1748C>A p.Thr583Asn p.T583N ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Thr583Asn,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Thr583Asn,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; A ENSG00000169894 ENST00000379458 Transcript missense_variant 1839/11248 1748/9972 583/3323 T/N aCt/aAt rs1397648004 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(0.14) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . ACT . 1242.6 NA NA NA NA NA NA NA NA NA 100953527 MUC3A 57876 . GRCh38 chr7 100953528 100953528 + Silent SNP T T C rs1163094345 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1749T>C p.Thr583= p.T583= ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,synonymous_variant,p.Thr583=,ENST00000379458,NM_005960.2;MUC3A,synonymous_variant,p.Thr583=,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; C ENSG00000169894 ENST00000379458 Transcript synonymous_variant 1840/11248 1749/9972 583/3323 T acT/acC rs1163094345 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . CTA . 3051.6 NA NA NA NA NA NA NA NA NA 100953528 MUC3A 57876 . GRCh38 chr7 100953536 100953536 + Missense_Mutation SNP C C T rs1183629578 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1757C>T p.Pro586Leu p.P586L ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Pro586Leu,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Pro586Leu,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; T ENSG00000169894 ENST00000379458 Transcript missense_variant 1848/11248 1757/9972 586/3323 P/L cCa/cTa rs1183629578 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 deleterious_low_confidence(0) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . CCA . 1425.6 NA NA NA NA NA NA NA NA NA 100953536 MUC3A 57876 . GRCh38 chr7 100953542 100953542 + Missense_Mutation SNP C C T rs1236232640 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1763C>T p.Ser588Leu p.S588L ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Ser588Leu,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Ser588Leu,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; T ENSG00000169894 ENST00000379458 Transcript missense_variant 1854/11248 1763/9972 588/3323 S/L tCa/tTa rs1236232640 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(0.12) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . TCA . 1449.6 NA NA NA NA NA NA NA NA NA 100953542 MUC3A 57876 . GRCh38 chr7 100953544 100953544 + Missense_Mutation SNP A A T rs1206547865 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1765A>T p.Thr589Ser p.T589S ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Thr589Ser,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Thr589Ser,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; T ENSG00000169894 ENST00000379458 Transcript missense_variant 1856/11248 1765/9972 589/3323 T/S Acc/Tcc rs1206547865 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(1) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . AAC . 4872.6 NA NA NA NA NA NA NA NA NA 100953544 MUC3A 57876 . GRCh38 chr7 100953547 100953547 + Missense_Mutation SNP A A G rs1288863769 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1768A>G p.Thr590Ala p.T590A ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Thr590Ala,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Thr590Ala,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; G ENSG00000169894 ENST00000379458 Transcript missense_variant 1859/11248 1768/9972 590/3323 T/A Act/Gct rs1288863769 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(0.1) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . CAC . 1011.6 NA NA NA NA NA NA NA NA NA 100953547 MUC3A 57876 . GRCh38 chr7 100953548 100953548 + Missense_Mutation SNP C C G rs1357514460 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1769C>G p.Thr590Ser p.T590S ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Thr590Ser,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Thr590Ser,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; G ENSG00000169894 ENST00000379458 Transcript missense_variant 1860/11248 1769/9972 590/3323 T/S aCt/aGt rs1357514460 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(0.07) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . ACT . 1449.6 NA NA NA NA NA NA NA NA NA 100953548 MUC3A 57876 . GRCh38 chr7 100953551 100953551 + Missense_Mutation SNP C C T rs1376260168 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1772C>T p.Ala591Val p.A591V ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Ala591Val,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Ala591Val,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; T ENSG00000169894 ENST00000379458 Transcript missense_variant 1863/11248 1772/9972 591/3323 A/V gCa/gTa rs1376260168 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(1) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . GCA . 9504.6 NA NA NA NA NA NA NA NA NA 100953551 MUC3A 57876 . GRCh38 chr7 100953556 100953556 + Missense_Mutation SNP A A G rs1307253148 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1777A>G p.Thr593Ala p.T593A ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Thr593Ala,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Thr593Ala,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; G ENSG00000169894 ENST00000379458 Transcript missense_variant 1868/11248 1777/9972 593/3323 T/A Act/Gct rs1307253148 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(0.2) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . AAC . 510.6 NA NA NA NA NA NA NA NA NA 100953556 MUC3A 57876 . GRCh38 chr7 100953560 100953560 + Missense_Mutation SNP C C G rs1444969861 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1781C>G p.Thr594Arg p.T594R ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Thr594Arg,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Thr594Arg,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; G ENSG00000169894 ENST00000379458 Transcript missense_variant 1872/11248 1781/9972 594/3323 T/R aCa/aGa rs1444969861 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 deleterious_low_confidence(0) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . ACA . 1837.6 NA NA NA NA NA NA NA NA NA 100953560 MUC3A 57876 . GRCh38 chr7 100953563 100953563 + Missense_Mutation SNP G G A rs1403986533 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1784G>A p.Gly595Glu p.G595E ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Gly595Glu,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Gly595Glu,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; A ENSG00000169894 ENST00000379458 Transcript missense_variant 1875/11248 1784/9972 595/3323 G/E gGa/gAa rs1403986533 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 deleterious_low_confidence(0.03) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . GGA . 659.6 NA NA NA NA NA NA NA NA NA 100953563 MUC3A 57876 . GRCh38 chr7 100953564 100953564 + Silent SNP A A C rs1367004059 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1785A>C p.Gly595= p.G595= ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,synonymous_variant,p.Gly595=,ENST00000379458,NM_005960.2;MUC3A,synonymous_variant,p.Gly595=,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; C ENSG00000169894 ENST00000379458 Transcript synonymous_variant 1876/11248 1785/9972 595/3323 G ggA/ggC rs1367004059 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . GAA . 9845.6 NA NA NA NA NA NA NA NA NA 100953564 MUC3A 57876 . GRCh38 chr7 100953575 100953575 + Missense_Mutation SNP C C G rs1163848013 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1796C>G p.Thr599Ser p.T599S ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Thr599Ser,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Thr599Ser,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; G ENSG00000169894 ENST00000379458 Transcript missense_variant 1887/11248 1796/9972 599/3323 T/S aCc/aGc rs1163848013 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(0.42) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . ACC . 175.6 NA NA NA NA NA NA NA NA NA 100953575 MUC3A 57876 . GRCh38 chr7 100953589 100953589 + Missense_Mutation SNP T T C rs1470460009 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1810T>C p.Ser604Pro p.S604P ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Ser604Pro,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Ser604Pro,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; C ENSG00000169894 ENST00000379458 Transcript missense_variant 1901/11248 1810/9972 604/3323 S/P Tct/Cct rs1470460009 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(0.5) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . CTC . 1367.6 NA NA NA NA NA NA NA NA NA 100953589 MUC3A 57876 . GRCh38 chr7 100953603 100953603 + Silent SNP T T C rs1490782990 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1824T>C p.Phe608= p.F608= ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,synonymous_variant,p.Phe608=,ENST00000379458,NM_005960.2;MUC3A,synonymous_variant,p.Phe608=,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; C ENSG00000169894 ENST00000379458 Transcript synonymous_variant 1915/11248 1824/9972 608/3323 F ttT/ttC rs1490782990 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . TTC . 6396.6 NA NA NA NA NA NA NA NA NA 100953603 MUC3A 57876 . GRCh38 chr7 100953604 100953604 + Missense_Mutation SNP C C T rs1294137768 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1825C>T p.Pro609Ser p.P609S ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Pro609Ser,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Pro609Ser,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; T ENSG00000169894 ENST00000379458 Transcript missense_variant 1916/11248 1825/9972 609/3323 P/S Cct/Tct rs1294137768 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(0.08) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . TCC . 1477.6 NA NA NA NA NA NA NA NA NA 100953604 MUC3A 57876 . GRCh38 chr7 100953614 100953614 + Missense_Mutation SNP C C T rs1282211736 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1835C>T p.Thr612Ile p.T612I ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Thr612Ile,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Thr612Ile,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; T ENSG00000169894 ENST00000379458 Transcript missense_variant 1926/11248 1835/9972 612/3323 T/I aCc/aTc rs1282211736 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 deleterious_low_confidence(0) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . ACC . 1216.6 NA NA NA NA NA NA NA NA NA 100953614 MUC3A 57876 . GRCh38 chr7 100953620 100953620 + Missense_Mutation SNP C C T rs1274801843 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1841C>T p.Pro614Leu p.P614L ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Pro614Leu,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Pro614Leu,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; T ENSG00000169894 ENST00000379458 Transcript missense_variant 1932/11248 1841/9972 614/3323 P/L cCg/cTg rs1274801843 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(1) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . CCG . 5881.6 NA NA NA NA NA NA NA NA NA 100953620 MUC3A 57876 . GRCh38 chr7 100953629 100953629 + Missense_Mutation SNP C C A rs1398996323 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1850C>A p.Thr617Lys p.T617K ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Thr617Lys,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Thr617Lys,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; A ENSG00000169894 ENST00000379458 Transcript missense_variant 1941/11248 1850/9972 617/3323 T/K aCa/aAa rs1398996323 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 deleterious_low_confidence(0) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . ACA . 1130.6 NA NA NA NA NA NA NA NA NA 100953629 MUC3A 57876 . GRCh38 chr7 100953630 100953630 + Silent SNP A A C rs1358287805 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1851A>C p.Thr617= p.T617= ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,synonymous_variant,p.Thr617=,ENST00000379458,NM_005960.2;MUC3A,synonymous_variant,p.Thr617=,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; C ENSG00000169894 ENST00000379458 Transcript synonymous_variant 1942/11248 1851/9972 617/3323 T acA/acC rs1358287805 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . CAA . 4466.6 NA NA NA NA NA NA NA NA NA 100953630 MUC3A 57876 . GRCh38 chr7 100953633 100953633 + Silent SNP T T G rs1170745875 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1854T>G p.Thr618= p.T618= ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,synonymous_variant,p.Thr618=,ENST00000379458,NM_005960.2;MUC3A,synonymous_variant,p.Thr618=,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; G ENSG00000169894 ENST00000379458 Transcript synonymous_variant 1945/11248 1854/9972 618/3323 T acT/acG rs1170745875 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . CTG . 1108.6 NA NA NA NA NA NA NA NA NA 100953633 MUC3A 57876 . GRCh38 chr7 100953634 100953634 + Missense_Mutation SNP G G A rs1481415324 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1855G>A p.Asp619Asn p.D619N ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Asp619Asn,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Asp619Asn,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; A ENSG00000169894 ENST00000379458 Transcript missense_variant 1946/11248 1855/9972 619/3323 D/N Gac/Aac rs1481415324 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 deleterious_low_confidence(0.01) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . TGA . 1066.6 NA NA NA NA NA NA NA NA NA 100953634 MUC3A 57876 . GRCh38 chr7 100953639 100953639 + Missense_Mutation SNP G G T rs1488067057 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1860G>T p.Met620Ile p.M620I ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Met620Ile,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Met620Ile,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; T ENSG00000169894 ENST00000379458 Transcript missense_variant 1951/11248 1860/9972 620/3323 M/I atG/atT rs1488067057 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(0.61) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . TGT . 1873.6 NA NA NA NA NA NA NA NA NA 100953639 MUC3A 57876 . GRCh38 chr7 100953642 100953642 + Silent SNP C C T rs1017573098 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1863C>T p.Ser621= p.S621= ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,synonymous_variant,p.Ser621=,ENST00000379458,NM_005960.2;MUC3A,synonymous_variant,p.Ser621=,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; T ENSG00000169894 ENST00000379458 Transcript synonymous_variant 1954/11248 1863/9972 621/3323 S tcC/tcT rs1017573098 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . CCA . 1495.6 NA NA NA NA NA NA NA NA NA 100953642 MUC3A 57876 . GRCh38 chr7 100953644 100953644 + Missense_Mutation SNP C C G rs1278460533 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1865C>G p.Thr622Arg p.T622R ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Thr622Arg,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Thr622Arg,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; G ENSG00000169894 ENST00000379458 Transcript missense_variant 1956/11248 1865/9972 622/3323 T/R aCa/aGa rs1278460533 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 deleterious_low_confidence(0.01) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . ACA . 880.6 NA NA NA NA NA NA NA NA NA 100953644 MUC3A 57876 . GRCh38 chr7 100953654 100953654 + Silent SNP C C G rs963831696 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1875C>G p.Leu625= p.L625= ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,synonymous_variant,p.Leu625=,ENST00000379458,NM_005960.2;MUC3A,synonymous_variant,p.Leu625=,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; G ENSG00000169894 ENST00000379458 Transcript synonymous_variant 1966/11248 1875/9972 625/3323 L ctC/ctG rs963831696 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . TCA . 1094.6 NA NA NA NA NA NA NA NA NA 100953654 MUC3A 57876 . GRCh38 chr7 100953656 100953656 + Missense_Mutation SNP C C T rs1326353376 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1877C>T p.Thr626Ile p.T626I ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Thr626Ile,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Thr626Ile,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; T ENSG00000169894 ENST00000379458 Transcript missense_variant 1968/11248 1877/9972 626/3323 T/I aCa/aTa rs1326353376 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 deleterious_low_confidence(0.01) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . ACA . 982.6 NA NA NA NA NA NA NA NA NA 100953656 MUC3A 57876 . GRCh38 chr7 100953657 100953657 + Silent SNP A A G rs1284302199 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1878A>G p.Thr626= p.T626= ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,synonymous_variant,p.Thr626=,ENST00000379458,NM_005960.2;MUC3A,synonymous_variant,p.Thr626=,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; G ENSG00000169894 ENST00000379458 Transcript synonymous_variant 1969/11248 1878/9972 626/3323 T acA/acG rs1284302199 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . CAA . 985.6 NA NA NA NA NA NA NA NA NA 100953657 MUC3A 57876 . GRCh38 chr7 100953661 100953661 + Missense_Mutation SNP G G C rs1290278311 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1882G>C p.Ala628Pro p.A628P ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Ala628Pro,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Ala628Pro,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; C ENSG00000169894 ENST00000379458 Transcript missense_variant 1973/11248 1882/9972 628/3323 A/P Gcc/Ccc rs1290278311 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(0.05) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . AGC . 646.6 NA NA NA NA NA NA NA NA NA 100953661 MUC3A 57876 . GRCh38 chr7 100953663 100953663 + Silent SNP C C A rs1358066279 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1884C>A p.Ala628= p.A628= ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,synonymous_variant,p.Ala628=,ENST00000379458,NM_005960.2;MUC3A,synonymous_variant,p.Ala628=,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; A ENSG00000169894 ENST00000379458 Transcript synonymous_variant 1975/11248 1884/9972 628/3323 A gcC/gcA rs1358066279 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . CCA . 619.6 NA NA NA NA NA NA NA NA NA 100953663 MUC3A 57876 . GRCh38 chr7 100953673 100953673 + Missense_Mutation SNP C C A rs1429952556 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1894C>A p.Pro632Thr p.P632T ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Pro632Thr,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Pro632Thr,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; A ENSG00000169894 ENST00000379458 Transcript missense_variant 1985/11248 1894/9972 632/3323 P/T Cct/Act rs1429952556 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(0.28) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . TCC . 434.6 NA NA NA NA NA NA NA NA NA 100953673 MUC3A 57876 . GRCh38 chr7 100953675 100953676 + In_Frame_Ins INS - - ACC rs1476730108 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1896_1897insACC p.Pro632_Pro633insThr p.P632_P633insT ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,inframe_insertion,p.Pro632_Pro633insThr,ENST00000379458,NM_005960.2;MUC3A,inframe_insertion,p.Pro632_Pro633insThr,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; ACC ENSG00000169894 ENST00000379458 Transcript inframe_insertion 1987-1988/11248 1896-1897/9972 632-633/3323 -/T -/ACC rs1476730108 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 insertion 5 NA NA NA . CTC . 317.64 NA NA NA NA NA NA NA NA NA 100953675 MUC3A 57876 . GRCh38 chr7 100953680 100953680 + Missense_Mutation SNP T T A rs1417567961 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1901T>A p.Ile634Asn p.I634N ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Ile634Asn,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Ile634Asn,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; A ENSG00000169894 ENST00000379458 Transcript missense_variant 1992/11248 1901/9972 634/3323 I/N aTc/aAc rs1417567961 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 deleterious_low_confidence(0) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . ATC . 1304.6 NA NA NA NA NA NA NA NA NA 100953680 MUC3A 57876 . GRCh38 chr7 100953683 100953683 + Missense_Mutation SNP C C A rs1236967955 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1904C>A p.Thr635Asn p.T635N ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Thr635Asn,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Thr635Asn,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; A ENSG00000169894 ENST00000379458 Transcript missense_variant 1995/11248 1904/9972 635/3323 T/N aCt/aAt rs1236967955 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(0.12) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . ACT . 1298.6 NA NA NA NA NA NA NA NA NA 100953683 MUC3A 57876 . GRCh38 chr7 100953685 100953685 + Missense_Mutation SNP T T G rs1201904978 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1906T>G p.Ser636Ala p.S636A ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Ser636Ala,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Ser636Ala,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; G ENSG00000169894 ENST00000379458 Transcript missense_variant 1997/11248 1906/9972 636/3323 S/A Tca/Gca rs1201904978 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 deleterious_low_confidence(0.04) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . TTC . 1295.6 NA NA NA NA NA NA NA NA NA 100953685 MUC3A 57876 . GRCh38 chr7 100953686 100953686 + Missense_Mutation SNP C C T rs1463023462 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1907C>T p.Ser636Leu p.S636L ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Ser636Leu,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Ser636Leu,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; T ENSG00000169894 ENST00000379458 Transcript missense_variant 1998/11248 1907/9972 636/3323 S/L tCa/tTa rs1463023462 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 deleterious_low_confidence(0) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . TCA . 1292.6 NA NA NA NA NA NA NA NA NA 100953686 MUC3A 57876 . GRCh38 chr7 100953687 100953687 + Silent SNP A A T rs1264341232 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1908A>T p.Ser636= p.S636= ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,synonymous_variant,p.Ser636=,ENST00000379458,NM_005960.2;MUC3A,synonymous_variant,p.Ser636=,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; T ENSG00000169894 ENST00000379458 Transcript synonymous_variant 1999/11248 1908/9972 636/3323 S tcA/tcT rs1264341232 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . CAT . 755.6 NA NA NA NA NA NA NA NA NA 100953687 MUC3A 57876 . GRCh38 chr7 100953688 100953688 + Missense_Mutation SNP T T G rs1198355517 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1909T>G p.Ser637Ala p.S637A ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Ser637Ala,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Ser637Ala,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; G ENSG00000169894 ENST00000379458 Transcript missense_variant 2000/11248 1909/9972 637/3323 S/A Tca/Gca rs1198355517 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(0.06) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . ATC . 89.6 NA NA NA NA NA NA NA NA NA 100953688 MUC3A 57876 . GRCh38 chr7 100953691 100953691 + Missense_Mutation SNP G G A rs1306128749 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1912G>A p.Val638Ile p.V638I ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Val638Ile,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Val638Ile,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; A ENSG00000169894 ENST00000379458 Transcript missense_variant 2003/11248 1912/9972 638/3323 V/I Gtc/Atc rs1306128749 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(1) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . AGT . 35.6 NA NA NA NA NA NA NA NA NA 100953691 MUC3A 57876 . GRCh38 chr7 100953697 100953697 + Missense_Mutation SNP T T C rs1298273392 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1918T>C p.Ser640Pro p.S640P ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Ser640Pro,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Ser640Pro,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; C ENSG00000169894 ENST00000379458 Transcript missense_variant 2009/11248 1918/9972 640/3323 S/P Tcc/Ccc rs1298273392 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(1) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . TTC . 569.6 NA NA NA NA NA NA NA NA NA 100953697 MUC3A 57876 . GRCh38 chr7 100953707 100953707 + Missense_Mutation SNP C C T rs1312237758 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1928C>T p.Thr643Ile p.T643I ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Thr643Ile,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Thr643Ile,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; T ENSG00000169894 ENST00000379458 Transcript missense_variant 2019/11248 1928/9972 643/3323 T/I aCa/aTa rs1312237758 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(0.19) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . ACA . 1067.6 NA NA NA NA NA NA NA NA NA 100953707 MUC3A 57876 . GRCh38 chr7 100953729 100953729 + Silent SNP G G A rs1356062281 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1950G>A p.Thr650= p.T650= ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,synonymous_variant,p.Thr650=,ENST00000379458,NM_005960.2;MUC3A,synonymous_variant,p.Thr650=,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; A ENSG00000169894 ENST00000379458 Transcript synonymous_variant 2041/11248 1950/9972 650/3323 T acG/acA rs1356062281 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . CGA . 1022.6 NA NA NA NA NA NA NA NA NA 100953729 MUC3A 57876 . GRCh38 chr7 100953740 100953740 + Missense_Mutation SNP C C A rs1429314654 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1961C>A p.Pro654His p.P654H ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Pro654His,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Pro654His,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; A ENSG00000169894 ENST00000379458 Transcript missense_variant 2052/11248 1961/9972 654/3323 P/H cCc/cAc rs1429314654 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 deleterious_low_confidence(0) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . CCC . 981.6 NA NA NA NA NA NA NA NA NA 100953740 MUC3A 57876 . GRCh38 chr7 100953750 100953750 + Silent SNP C C T rs1244214369 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1971C>T p.Thr657= p.T657= ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,synonymous_variant,p.Thr657=,ENST00000379458,NM_005960.2;MUC3A,synonymous_variant,p.Thr657=,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; T ENSG00000169894 ENST00000379458 Transcript synonymous_variant 2062/11248 1971/9972 657/3323 T acC/acT rs1244214369 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . CCA . 762.6 NA NA NA NA NA NA NA NA NA 100953750 MUC3A 57876 . GRCh38 chr7 100953751 100953751 + Missense_Mutation SNP A A C rs1198564949 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1972A>C p.Asn658His p.N658H ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Asn658His,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Asn658His,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; C ENSG00000169894 ENST00000379458 Transcript missense_variant 2063/11248 1972/9972 658/3323 N/H Aat/Cat rs1198564949 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(0.13) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . CAA . 771.6 NA NA NA NA NA NA NA NA NA 100953751 MUC3A 57876 . GRCh38 chr7 100953762 100953762 + Silent SNP A A C rs928221962 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1983A>C p.Thr661= p.T661= ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,synonymous_variant,p.Thr661=,ENST00000379458,NM_005960.2;MUC3A,synonymous_variant,p.Thr661=,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; C ENSG00000169894 ENST00000379458 Transcript synonymous_variant 2074/11248 1983/9972 661/3323 T acA/acC rs928221962 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . CAT . 738.6 NA NA NA NA NA NA NA NA NA 100953762 MUC3A 57876 . GRCh38 chr7 100953778 100953778 + Missense_Mutation SNP C C A rs1389595094 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1999C>A p.Pro667Thr p.P667T ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Pro667Thr,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Pro667Thr,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; A ENSG00000169894 ENST00000379458 Transcript missense_variant 2090/11248 1999/9972 667/3323 P/T Cct/Act rs1389595094 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 deleterious_low_confidence(0.03) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . GCC . 894.6 NA NA NA NA NA NA NA NA NA 100953778 MUC3A 57876 . GRCh38 chr7 100953812 100953812 + Missense_Mutation SNP T T C rs1385924525 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2033T>C p.Val678Ala p.V678A ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Val678Ala,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Val678Ala,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; C ENSG00000169894 ENST00000379458 Transcript missense_variant 2124/11248 2033/9972 678/3323 V/A gTa/gCa rs1385924525 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(0.58) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . GTA . 226.6 NA NA NA NA NA NA NA NA NA 100953812 MUC3A 57876 . GRCh38 chr7 100953814 100953814 + Missense_Mutation SNP G G A rs1181236670 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2035G>A p.Val679Ile p.V679I ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Val679Ile,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Val679Ile,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; A ENSG00000169894 ENST00000379458 Transcript missense_variant 2126/11248 2035/9972 679/3323 V/I Gtc/Atc rs1181236670 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(0.54) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . AGT . 223.6 NA NA NA NA NA NA NA NA NA 100953814 MUC3A 57876 . GRCh38 chr7 100953830 100953830 + Missense_Mutation SNP T T C rs1359785787 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2051T>C p.Ile684Thr p.I684T ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Ile684Thr,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Ile684Thr,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; C ENSG00000169894 ENST00000379458 Transcript missense_variant 2142/11248 2051/9972 684/3323 I/T aTa/aCa rs1359785787 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(1) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . ATA . 352.6 NA NA NA NA NA NA NA NA NA 100953830 MUC3A 57876 . GRCh38 chr7 100953851 100953851 + Missense_Mutation SNP T T C rs1385958253 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2072T>C p.Ile691Thr p.I691T ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Ile691Thr,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Ile691Thr,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; C ENSG00000169894 ENST00000379458 Transcript missense_variant 2163/11248 2072/9972 691/3323 I/T aTc/aCc rs1385958253 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(1) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . ATC . 410.6 NA NA NA NA NA NA NA NA NA 100953851 MUC3A 57876 . GRCh38 chr7 100953882 100953882 + Silent SNP T T C rs1366466969 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2103T>C p.Ala701= p.A701= ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,synonymous_variant,p.Ala701=,ENST00000379458,NM_005960.2;MUC3A,synonymous_variant,p.Ala701=,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; C ENSG00000169894 ENST00000379458 Transcript synonymous_variant 2194/11248 2103/9972 701/3323 A gcT/gcC rs1366466969 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . CTT . 506.6 NA NA NA NA NA NA NA NA NA 100953882 MUC3A 57876 . GRCh38 chr7 100953885 100953885 + Silent SNP A A G rs1451749404 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2106A>G p.Ser702= p.S702= ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,synonymous_variant,p.Ser702=,ENST00000379458,NM_005960.2;MUC3A,synonymous_variant,p.Ser702=,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; G ENSG00000169894 ENST00000379458 Transcript synonymous_variant 2197/11248 2106/9972 702/3323 S tcA/tcG rs1451749404 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . CAT . 542.6 NA NA NA NA NA NA NA NA NA 100953885 MUC3A 57876 . GRCh38 chr7 100953889 100953889 + Missense_Mutation SNP A A G rs1050879964 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2110A>G p.Met704Val p.M704V ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Met704Val,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Met704Val,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; G ENSG00000169894 ENST00000379458 Transcript missense_variant 2201/11248 2110/9972 704/3323 M/V Atg/Gtg rs1050879964 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 deleterious_low_confidence(0.04) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . TAT . 281.6 NA NA NA NA NA NA NA NA NA 100953889 MUC3A 57876 . GRCh38 chr7 100953899 100953899 + Missense_Mutation SNP C C T rs1262064978 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2120C>T p.Ser707Phe p.S707F ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Ser707Phe,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Ser707Phe,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; T ENSG00000169894 ENST00000379458 Transcript missense_variant 2211/11248 2120/9972 707/3323 S/F tCt/tTt rs1262064978 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 deleterious_low_confidence(0) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . TCT . 326.6 NA NA NA NA NA NA NA NA NA 100953899 MUC3A 57876 . GRCh38 chr7 100953909 100953909 + Silent SNP C C T rs1486571387 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2130C>T p.Thr710= p.T710= ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,synonymous_variant,p.Thr710=,ENST00000379458,NM_005960.2;MUC3A,synonymous_variant,p.Thr710=,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; T ENSG00000169894 ENST00000379458 Transcript synonymous_variant 2221/11248 2130/9972 710/3323 T acC/acT rs1486571387 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . CCT . 418.6 NA NA NA NA NA NA NA NA NA 100953909 MUC3A 57876 . GRCh38 chr7 100953947 100953947 + Missense_Mutation SNP C C T rs1018062394 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2168C>T p.Thr723Met p.T723M ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Thr723Met,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Thr723Met,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; T ENSG00000169894 ENST00000379458 Transcript missense_variant 2259/11248 2168/9972 723/3323 T/M aCg/aTg rs1018062394 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(0.2) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . ACG . 40.6 NA NA NA NA NA NA NA NA NA 100953947 MUC3A 57876 . GRCh38 chr7 100953951 100953951 + Silent SNP G G C rs1427865119 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2172G>C p.Thr724= p.T724= ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,synonymous_variant,p.Thr724=,ENST00000379458,NM_005960.2;MUC3A,synonymous_variant,p.Thr724=,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; C ENSG00000169894 ENST00000379458 Transcript synonymous_variant 2263/11248 2172/9972 724/3323 T acG/acC rs1427865119 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . CGG . 386.6 NA NA NA NA NA NA NA NA NA 100953951 MUC3A 57876 . GRCh38 chr7 100953952 100953952 + Missense_Mutation SNP G G A rs1480983169 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2173G>A p.Glu725Lys p.E725K ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Glu725Lys,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Glu725Lys,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; A ENSG00000169894 ENST00000379458 Transcript missense_variant 2264/11248 2173/9972 725/3323 E/K Gaa/Aaa rs1480983169 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(0.14) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . GGA . 407.6 NA NA NA NA NA NA NA NA NA 100953952 MUC3A 57876 . GRCh38 chr7 100953968 100953968 + Missense_Mutation SNP C C T rs1264952077 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2189C>T p.Thr730Ile p.T730I ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Thr730Ile,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Thr730Ile,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; T ENSG00000169894 ENST00000379458 Transcript missense_variant 2280/11248 2189/9972 730/3323 T/I aCc/aTc rs1264952077 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 deleterious_low_confidence(0) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . ACC . 368.6 NA NA NA NA NA NA NA NA NA 100953968 MUC3A 57876 . GRCh38 chr7 100953992 100953992 + Missense_Mutation SNP C C A rs1296351805 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2213C>A p.Thr738Asn p.T738N ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Thr738Asn,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Thr738Asn,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; A ENSG00000169894 ENST00000379458 Transcript missense_variant 2304/11248 2213/9972 738/3323 T/N aCt/aAt rs1296351805 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 deleterious_low_confidence(0.01) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . ACT . 272.6 NA NA NA NA NA NA NA NA NA 100953992 MUC3A 57876 . GRCh38 chr7 100954010 100954010 + Missense_Mutation SNP C C T rs1166564165 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2231C>T p.Pro744Leu p.P744L ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Pro744Leu,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Pro744Leu,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; T ENSG00000169894 ENST00000379458 Transcript missense_variant 2322/11248 2231/9972 744/3323 P/L cCc/cTc rs1166564165 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(0.67) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . CCC . 197.6 NA NA NA NA NA NA NA NA NA 100954010 MUC3A 57876 . GRCh38 chr7 100954013 100954013 + Missense_Mutation SNP C C T rs982253837 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2234C>T p.Thr745Ile p.T745I ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Thr745Ile,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Thr745Ile,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; T ENSG00000169894 ENST00000379458 Transcript missense_variant 2325/11248 2234/9972 745/3323 T/I aCc/aTc rs982253837 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 deleterious_low_confidence(0.01) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . ACC . 254.6 NA NA NA NA NA NA NA NA NA 100954013 MUC3A 57876 . GRCh38 chr7 100954020 100954020 + Silent SNP C C T rs1182384709 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2241C>T p.Pro747= p.P747= ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,synonymous_variant,p.Pro747=,ENST00000379458,NM_005960.2;MUC3A,synonymous_variant,p.Pro747=,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; T ENSG00000169894 ENST00000379458 Transcript synonymous_variant 2332/11248 2241/9972 747/3323 P ccC/ccT rs1182384709 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . CCT . 284.6 NA NA NA NA NA NA NA NA NA 100954020 MUC3A 57876 . GRCh38 chr7 100954022 100954022 + Missense_Mutation SNP T T C rs1442253423 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2243T>C p.Leu748Ser p.L748S ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Leu748Ser,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Leu748Ser,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; C ENSG00000169894 ENST00000379458 Transcript missense_variant 2334/11248 2243/9972 748/3323 L/S tTg/tCg rs1442253423 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(0.88) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . TTG . 368.6 NA NA NA NA NA NA NA NA NA 100954022 MUC3A 57876 . GRCh38 chr7 100954032 100954032 + Silent SNP T T C rs959654248 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2253T>C p.Thr751= p.T751= ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,synonymous_variant,p.Thr751=,ENST00000379458,NM_005960.2;MUC3A,synonymous_variant,p.Thr751=,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; C ENSG00000169894 ENST00000379458 Transcript synonymous_variant 2344/11248 2253/9972 751/3323 T acT/acC rs959654248 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . CTG . 233.6 NA NA NA NA NA NA NA NA NA 100954032 MUC3A 57876 . GRCh38 chr7 100954036 100954036 + Missense_Mutation SNP A A G rs991067490 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2257A>G p.Lys753Glu p.K753E ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Lys753Glu,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Lys753Glu,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; G ENSG00000169894 ENST00000379458 Transcript missense_variant 2348/11248 2257/9972 753/3323 K/E Aaa/Gaa rs991067490 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(1) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . AAA . 324.6 NA NA NA NA NA NA NA NA NA 100954036 MUC3A 57876 . GRCh38 chr7 100954061 100954061 + Missense_Mutation SNP A A T rs1163722999 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2282A>T p.Asn761Ile p.N761I ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Asn761Ile,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Asn761Ile,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; T ENSG00000169894 ENST00000379458 Transcript missense_variant 2373/11248 2282/9972 761/3323 N/I aAc/aTc rs1163722999 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(0.21) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . AAC . 302.6 NA NA NA NA NA NA NA NA NA 100954061 MUC3A 57876 . GRCh38 chr7 100954123 100954123 + Missense_Mutation SNP G G A rs1428324814 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2344G>A p.Val782Ile p.V782I ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Val782Ile,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Val782Ile,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; A ENSG00000169894 ENST00000379458 Transcript missense_variant 2435/11248 2344/9972 782/3323 V/I Gtc/Atc rs1428324814 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(1) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . CGT . 423.6 NA NA NA NA NA NA NA NA NA 100954123 MUC3A 57876 . GRCh38 chr7 100954136 100954136 + Missense_Mutation SNP C C G rs1489908806 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2357C>G p.Ala786Gly p.A786G ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Ala786Gly,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Ala786Gly,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; G ENSG00000169894 ENST00000379458 Transcript missense_variant 2448/11248 2357/9972 786/3323 A/G gCc/gGc rs1489908806 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(0.34) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . GCC . 439.6 NA NA NA NA NA NA NA NA NA 100954136 MUC3A 57876 . GRCh38 chr7 100954173 100954173 + Silent SNP T T A rs1481300721 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2394T>A p.Thr798= p.T798= ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,synonymous_variant,p.Thr798=,ENST00000379458,NM_005960.2;MUC3A,synonymous_variant,p.Thr798=,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; A ENSG00000169894 ENST00000379458 Transcript synonymous_variant 2485/11248 2394/9972 798/3323 T acT/acA rs1481300721 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . CTA . 906.6 NA NA NA NA NA NA NA NA NA 100954173 MUC3A 57876 . GRCh38 chr7 100954176 100954176 + Silent SNP G G C rs898379009 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2397G>C p.Thr799= p.T799= ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,synonymous_variant,p.Thr799=,ENST00000379458,NM_005960.2;MUC3A,synonymous_variant,p.Thr799=,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; C ENSG00000169894 ENST00000379458 Transcript synonymous_variant 2488/11248 2397/9972 799/3323 T acG/acC rs898379009 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . CGT . 888.6 NA NA NA NA NA NA NA NA NA 100954176 MUC3A 57876 . GRCh38 chr7 100954184 100954184 + Missense_Mutation SNP C C A rs1240405875 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2405C>A p.Thr802Asn p.T802N ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Thr802Asn,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Thr802Asn,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; A ENSG00000169894 ENST00000379458 Transcript missense_variant 2496/11248 2405/9972 802/3323 T/N aCc/aAc rs1240405875 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(0.1) possibly_damaging(0.881) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . ACC . 945.6 NA NA NA NA NA NA NA NA NA 100954184 MUC3A 57876 . GRCh38 chr7 100954191 100954191 + Silent SNP A A G rs1326111812 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2412A>G p.Val804= p.V804= ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,synonymous_variant,p.Val804=,ENST00000379458,NM_005960.2;MUC3A,synonymous_variant,p.Val804=,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; G ENSG00000169894 ENST00000379458 Transcript synonymous_variant 2503/11248 2412/9972 804/3323 V gtA/gtG rs1326111812 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . TAA . 729.6 NA NA NA NA NA NA NA NA NA 100954191 MUC3A 57876 . GRCh38 chr7 100954205 100954205 + Missense_Mutation SNP T T G rs1435213832 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2426T>G p.Met809Arg p.M809R ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Met809Arg,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Met809Arg,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; G ENSG00000169894 ENST00000379458 Transcript missense_variant 2517/11248 2426/9972 809/3323 M/R aTg/aGg rs1435213832 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(0.2) possibly_damaging(0.742) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . ATG . 660.6 NA NA NA NA NA NA NA NA NA 100954205 MUC3A 57876 . GRCh38 chr7 100954210 100954210 + Missense_Mutation SNP T T C rs1406524434 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2431T>C p.Ser811Pro p.S811P ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Ser811Pro,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Ser811Pro,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; C ENSG00000169894 ENST00000379458 Transcript missense_variant 2522/11248 2431/9972 811/3323 S/P Tca/Cca rs1406524434 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(1) benign(0.125) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . CTC . 786.6 NA NA NA NA NA NA NA NA NA 100954210 MUC3A 57876 . GRCh38 chr7 100954217 100954217 + Missense_Mutation SNP C C G rs1169541001 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2438C>G p.Thr813Ser p.T813S ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Thr813Ser,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Thr813Ser,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; G ENSG00000169894 ENST00000379458 Transcript missense_variant 2529/11248 2438/9972 813/3323 T/S aCt/aGt rs1169541001 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(1) possibly_damaging(0.561) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . ACT . 789.6 NA NA NA NA NA NA NA NA NA 100954217 MUC3A 57876 . GRCh38 chr7 100954219 100954219 + Missense_Mutation SNP G G C rs1409572639 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2440G>C p.Val814Leu p.V814L ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Val814Leu,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Val814Leu,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; C ENSG00000169894 ENST00000379458 Transcript missense_variant 2531/11248 2440/9972 814/3323 V/L Gtg/Ctg rs1409572639 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(1) benign(0.254) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . TGT . 825.6 NA NA NA NA NA NA NA NA NA 100954219 MUC3A 57876 . GRCh38 chr7 100954221 100954221 + Silent SNP G G C rs1417676368 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2442G>C p.Val814= p.V814= ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,synonymous_variant,p.Val814=,ENST00000379458,NM_005960.2;MUC3A,synonymous_variant,p.Val814=,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; C ENSG00000169894 ENST00000379458 Transcript synonymous_variant 2533/11248 2442/9972 814/3323 V gtG/gtC rs1417676368 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . TGA . 876.6 NA NA NA NA NA NA NA NA NA 100954221 MUC3A 57876 . GRCh38 chr7 100954229 100954229 + Missense_Mutation SNP G G A rs1182286685 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2450G>A p.Gly817Asp p.G817D ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Gly817Asp,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Gly817Asp,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; A ENSG00000169894 ENST00000379458 Transcript missense_variant 2541/11248 2450/9972 817/3323 G/D gGt/gAt rs1182286685 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(0.54) possibly_damaging(0.661) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . GGT . 1133.6 NA NA NA NA NA NA NA NA NA 100954229 MUC3A 57876 . GRCh38 chr7 100954269 100954269 + Silent SNP C C T rs1352924333 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2490C>T p.Ser830= p.S830= ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,synonymous_variant,p.Ser830=,ENST00000379458,NM_005960.2;MUC3A,synonymous_variant,p.Ser830=,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; T ENSG00000169894 ENST00000379458 Transcript synonymous_variant 2581/11248 2490/9972 830/3323 S tcC/tcT rs1352924333 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . CCG . 1873.6 NA NA NA NA NA NA NA NA NA 100954269 MUC3A 57876 . GRCh38 chr7 100954280 100954280 + Missense_Mutation SNP G G C rs1161808546 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2501G>C p.Ser834Thr p.S834T ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Ser834Thr,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Ser834Thr,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; C ENSG00000169894 ENST00000379458 Transcript missense_variant 2592/11248 2501/9972 834/3323 S/T aGt/aCt rs1161808546 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(1) benign(0.31) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . AGT . 1857.6 NA NA NA NA NA NA NA NA NA 100954280 MUC3A 57876 . GRCh38 chr7 100954302 100954302 + Silent SNP A A G rs1358347321 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2523A>G p.Thr841= p.T841= ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,synonymous_variant,p.Thr841=,ENST00000379458,NM_005960.2;MUC3A,synonymous_variant,p.Thr841=,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; G ENSG00000169894 ENST00000379458 Transcript synonymous_variant 2614/11248 2523/9972 841/3323 T acA/acG rs1358347321 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . CAG . 1583.6 NA NA NA NA NA NA NA NA NA 100954302 MUC3A 57876 . GRCh38 chr7 100954329 100954329 + Silent SNP T T C rs1308473965 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2550T>C p.Ser850= p.S850= ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,synonymous_variant,p.Ser850=,ENST00000379458,NM_005960.2;MUC3A,synonymous_variant,p.Ser850=,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; C ENSG00000169894 ENST00000379458 Transcript synonymous_variant 2641/11248 2550/9972 850/3323 S tcT/tcC rs1308473965 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . CTA . 1652.6 NA NA NA NA NA NA NA NA NA 100954329 MUC3A 57876 . GRCh38 chr7 100954331 100954331 + Missense_Mutation SNP A A G rs933769288 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2552A>G p.Asn851Ser p.N851S ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Asn851Ser,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Asn851Ser,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; G ENSG00000169894 ENST00000379458 Transcript missense_variant 2643/11248 2552/9972 851/3323 N/S aAc/aGc rs933769288 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(1) benign(0.31) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . AAC . 1814.6 NA NA NA NA NA NA NA NA NA 100954331 MUC3A 57876 . GRCh38 chr7 100954344 100954344 + Silent SNP G G A rs1159010432 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2565G>A p.Arg855= p.R855= ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,synonymous_variant,p.Arg855=,ENST00000379458,NM_005960.2;MUC3A,synonymous_variant,p.Arg855=,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; A ENSG00000169894 ENST00000379458 Transcript synonymous_variant 2656/11248 2565/9972 855/3323 R agG/agA rs1159010432 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,PANTHER:PTHR24041:SF22 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . GGC . 1837.6 NA NA NA NA NA NA NA NA NA 100954344 MUC3A 57876 . GRCh38 chr7 100954346 100954346 + Missense_Mutation SNP C C T rs1183402462 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2567C>T p.Pro856Leu p.P856L ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Pro856Leu,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Pro856Leu,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; T ENSG00000169894 ENST00000379458 Transcript missense_variant 2658/11248 2567/9972 856/3323 P/L cCa/cTa rs1183402462 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(0.17) possibly_damaging(0.791) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,PANTHER:PTHR24041:SF22 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . CCA . 1852.6 NA NA NA NA NA NA NA NA NA 100954346 MUC3A 57876 . GRCh38 chr7 100954391 100954391 + Missense_Mutation SNP T T C rs1391526070 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2612T>C p.Ile871Thr p.I871T ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Ile871Thr,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Ile871Thr,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; C ENSG00000169894 ENST00000379458 Transcript missense_variant 2703/11248 2612/9972 871/3323 I/T aTc/aCc rs1391526070 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(1) possibly_damaging(0.628) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . ATC . 1367.6 NA NA NA NA NA NA NA NA NA 100954391 MUC3A 57876 . GRCh38 chr7 100954396 100954396 + Missense_Mutation SNP A A T rs1288413929 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2617A>T p.Ile873Phe p.I873F ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Ile873Phe,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Ile873Phe,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; T ENSG00000169894 ENST00000379458 Transcript missense_variant 2708/11248 2617/9972 873/3323 I/F Atc/Ttc rs1288413929 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(0.25) probably_damaging(0.955) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . AAT . 1188.6 NA NA NA NA NA NA NA NA NA 100954396 MUC3A 57876 . GRCh38 chr7 100954397 100954397 + Missense_Mutation SNP T T C rs1391509952 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2618T>C p.Ile873Thr p.I873T ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Ile873Thr,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Ile873Thr,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; C ENSG00000169894 ENST00000379458 Transcript missense_variant 2709/11248 2618/9972 873/3323 I/T aTc/aCc rs1391509952 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(0.9) possibly_damaging(0.852) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . ATC . 1191.6 NA NA NA NA NA NA NA NA NA 100954397 MUC3A 57876 . GRCh38 chr7 100954400 100954400 + Missense_Mutation SNP C C T rs1160300047 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2621C>T p.Ser874Phe p.S874F ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Ser874Phe,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Ser874Phe,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; T ENSG00000169894 ENST00000379458 Transcript missense_variant 2712/11248 2621/9972 874/3323 S/F tCt/tTt rs1160300047 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(0.73) benign(0.217) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . TCT . 1550.6 NA NA NA NA NA NA NA NA NA 100954400 MUC3A 57876 . GRCh38 chr7 100954404 100954404 + Silent SNP T T C rs1426691929 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2625T>C p.Val875= p.V875= ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,synonymous_variant,p.Val875=,ENST00000379458,NM_005960.2;MUC3A,synonymous_variant,p.Val875=,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; C ENSG00000169894 ENST00000379458 Transcript synonymous_variant 2716/11248 2625/9972 875/3323 V gtT/gtC rs1426691929 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . TTA . 1784.6 NA NA NA NA NA NA NA NA NA 100954404 MUC3A 57876 . GRCh38 chr7 100954413 100954413 + Silent SNP G G C rs886422660 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2634G>C p.Thr878= p.T878= ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,synonymous_variant,p.Thr878=,ENST00000379458,NM_005960.2;MUC3A,synonymous_variant,p.Thr878=,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; C ENSG00000169894 ENST00000379458 Transcript synonymous_variant 2725/11248 2634/9972 878/3323 T acG/acC rs886422660 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . CGT . 2087.6 NA NA NA NA NA NA NA NA NA 100954413 MUC3A 57876 . GRCh38 chr7 100954419 100954419 + Silent SNP T T C rs1202898513 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2640T>C p.Ala880= p.A880= ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,synonymous_variant,p.Ala880=,ENST00000379458,NM_005960.2;MUC3A,synonymous_variant,p.Ala880=,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; C ENSG00000169894 ENST00000379458 Transcript synonymous_variant 2731/11248 2640/9972 880/3323 A gcT/gcC rs1202898513 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . CTA . 2297.6 NA NA NA NA NA NA NA NA NA 100954419 MUC3A 57876 . GRCh38 chr7 100954432 100954432 + Frame_Shift_Del DEL G G - novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2654del p.Gly885GlufsTer17 p.G885Efs*17 ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,frameshift_variant,p.Gly885GlufsTer17,ENST00000379458,NM_005960.2;MUC3A,frameshift_variant,p.Gly885GlufsTer17,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; - ENSG00000169894 ENST00000379458 Transcript frameshift_variant 2744/11248 2653/9972 885/3323 G/X Gga/ga 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 5 1 NA NA . GTGG . 1936.6 NA NA NA NA NA NA NA NA NA 100954431 MUC3A 57876 . GRCh38 chr7 100954434 100954434 + Silent SNP A A G rs1321137993 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2655A>G p.Gly885= p.G885= ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,synonymous_variant,p.Gly885=,ENST00000379458,NM_005960.2;MUC3A,synonymous_variant,p.Gly885=,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; G ENSG00000169894 ENST00000379458 Transcript synonymous_variant 2746/11248 2655/9972 885/3323 G ggA/ggG rs1321137993 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . GAG . 41.6 NA NA NA NA NA NA NA NA NA 100954434 MUC3A 57876 . GRCh38 chr7 100954435 100954436 + Frame_Shift_Ins INS - - A novel NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2656_2657insA p.Gly886GlufsTer8 p.G886Efs*8 ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,frameshift_variant,p.Gly886GlufsTer8,ENST00000379458,NM_005960.2;MUC3A,frameshift_variant,p.Gly886GlufsTer8,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; A ENSG00000169894 ENST00000379458 Transcript frameshift_variant 2747-2748/11248 2656-2657/9972 886/3323 G/EX gga/gAga 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 insertion 5 NA NA NA . AGG . 2030.64 NA NA NA NA NA NA NA NA NA 100954435 MUC3A 57876 . GRCh38 chr7 100954457 100954457 + Missense_Mutation SNP A A T rs1367899666 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2678A>T p.Glu893Val p.E893V ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Glu893Val,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Glu893Val,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; T ENSG00000169894 ENST00000379458 Transcript missense_variant 2769/11248 2678/9972 893/3323 E/V gAg/gTg rs1367899666 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(0.07) possibly_damaging(0.715) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . GAG . 381.6 NA NA NA NA NA NA NA NA NA 100954457 MUC3A 57876 . GRCh38 chr7 100954467 100954467 + Silent SNP A A C rs1404349752 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2688A>C p.Pro896= p.P896= ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,synonymous_variant,p.Pro896=,ENST00000379458,NM_005960.2;MUC3A,synonymous_variant,p.Pro896=,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; C ENSG00000169894 ENST00000379458 Transcript synonymous_variant 2779/11248 2688/9972 896/3323 P ccA/ccC rs1404349752 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . CAA . 453.6 NA NA NA NA NA NA NA NA NA 100954467 MUC3A 57876 . GRCh38 chr7 100954471 100954471 + Missense_Mutation SNP A A T rs968365710 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2692A>T p.Arg898Trp p.R898W ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Arg898Trp,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Arg898Trp,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; T ENSG00000169894 ENST00000379458 Transcript missense_variant 2783/11248 2692/9972 898/3323 R/W Agg/Tgg rs968365710 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(0.08) possibly_damaging(0.511) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . AAG . 1174.6 NA NA NA NA NA NA NA NA NA 100954471 MUC3A 57876 . GRCh38 chr7 100954496 100954496 + Missense_Mutation SNP T T C rs1459961216 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2717T>C p.Met906Thr p.M906T ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Met906Thr,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Met906Thr,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; C ENSG00000169894 ENST00000379458 Transcript missense_variant 2808/11248 2717/9972 906/3323 M/T aTg/aCg rs1459961216 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(0.27) benign(0.043) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . ATG . 554.6 NA NA NA NA NA NA NA NA NA 100954496 MUC3A 57876 . GRCh38 chr7 100954505 100954505 + Missense_Mutation SNP C C T rs1250981641 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2726C>T p.Ser909Leu p.S909L ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Ser909Leu,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Ser909Leu,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; T ENSG00000169894 ENST00000379458 Transcript missense_variant 2817/11248 2726/9972 909/3323 S/L tCa/tTa rs1250981641 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(0.18) possibly_damaging(0.781) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . TCA . 535.6 NA NA NA NA NA NA NA NA NA 100954505 MUC3A 57876 . GRCh38 chr7 100954506 100954506 + Silent SNP A A G rs942409523 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2727A>G p.Ser909= p.S909= ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,synonymous_variant,p.Ser909=,ENST00000379458,NM_005960.2;MUC3A,synonymous_variant,p.Ser909=,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; G ENSG00000169894 ENST00000379458 Transcript synonymous_variant 2818/11248 2727/9972 909/3323 S tcA/tcG rs942409523 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . CAT . 1441.6 NA NA NA NA NA NA NA NA NA 100954506 MUC3A 57876 . GRCh38 chr7 100954510 100954512 + In_Frame_Del DEL TCT TCT - rs1381277887 NA HCI-EC-23 NORMAL TCT TCT NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2737_2739del p.Ser913del p.S913del ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,inframe_deletion,p.Ser913del,ENST00000379458,NM_005960.2;MUC3A,inframe_deletion,p.Ser913del,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; - ENSG00000169894 ENST00000379458 Transcript inframe_deletion 2822-2824/11248 2731-2733/9972 911/3323 S/- TCT/- rs1381277887 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 deletion 5 6 NA NA . TCTCTT . 1429.6 NA NA NA NA NA NA NA NA NA 100954509 MUC3A 57876 . GRCh38 chr7 100954518 100954518 + Silent SNP T T C rs1165783411 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2739T>C p.Ser913= p.S913= ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,synonymous_variant,p.Ser913=,ENST00000379458,NM_005960.2;MUC3A,synonymous_variant,p.Ser913=,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; C ENSG00000169894 ENST00000379458 Transcript synonymous_variant 2830/11248 2739/9972 913/3323 S tcT/tcC rs1165783411 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . CTA . 553.6 NA NA NA NA NA NA NA NA NA 100954518 MUC3A 57876 . GRCh38 chr7 100954521 100954521 + Missense_Mutation SNP G G T rs1431308245 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2742G>T p.Met914Ile p.M914I ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Met914Ile,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Met914Ile,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; T ENSG00000169894 ENST00000379458 Transcript missense_variant 2833/11248 2742/9972 914/3323 M/I atG/atT rs1431308245 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(0.08) possibly_damaging(0.528) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . TGT . 1270.6 NA NA NA NA NA NA NA NA NA 100954521 MUC3A 57876 . GRCh38 chr7 100954526 100954526 + Missense_Mutation SNP A A C rs1390229777 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2747A>C p.Glu916Ala p.E916A ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Glu916Ala,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Glu916Ala,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; C ENSG00000169894 ENST00000379458 Transcript missense_variant 2838/11248 2747/9972 916/3323 E/A gAa/gCa rs1390229777 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(1) benign(0.217) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . GAA . 1273.6 NA NA NA NA NA NA NA NA NA 100954526 MUC3A 57876 . GRCh38 chr7 100954527 100954527 + Missense_Mutation SNP A A C rs1162417767 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2748A>C p.Glu916Asp p.E916D ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Glu916Asp,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Glu916Asp,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; C ENSG00000169894 ENST00000379458 Transcript missense_variant 2839/11248 2748/9972 916/3323 E/D gaA/gaC rs1162417767 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 deleterious_low_confidence(0.01) probably_damaging(0.933) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . AAA . 1232.6 NA NA NA NA NA NA NA NA NA 100954527 MUC3A 57876 . GRCh38 chr7 100954530 100954530 + Silent SNP T T C rs1442655113 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2751T>C p.Ser917= p.S917= ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,synonymous_variant,p.Ser917=,ENST00000379458,NM_005960.2;MUC3A,synonymous_variant,p.Ser917=,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; C ENSG00000169894 ENST00000379458 Transcript synonymous_variant 2842/11248 2751/9972 917/3323 S agT/agC rs1442655113 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . GTA . 2237.6 NA NA NA NA NA NA NA NA NA 100954530 MUC3A 57876 . GRCh38 chr7 100954571 100954571 + Missense_Mutation SNP G G C rs1286485169 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2792G>C p.Arg931Pro p.R931P ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Arg931Pro,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Arg931Pro,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; C ENSG00000169894 ENST00000379458 Transcript missense_variant 2883/11248 2792/9972 931/3323 R/P cGa/cCa rs1286485169 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(1) benign(0.12) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . CGA . 747.6 NA NA NA NA NA NA NA NA NA 100954571 MUC3A 57876 . GRCh38 chr7 100954574 100954574 + Missense_Mutation SNP G G C rs1335529116 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2795G>C p.Gly932Ala p.G932A ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Gly932Ala,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Gly932Ala,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; C ENSG00000169894 ENST00000379458 Transcript missense_variant 2886/11248 2795/9972 932/3323 G/A gGc/gCc rs1335529116 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(1) possibly_damaging(0.721) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . GGC . 674.6 NA NA NA NA NA NA NA NA NA 100954574 MUC3A 57876 . GRCh38 chr7 100954977 100954977 + Silent SNP C C T rs1304208188 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3198C>T p.Ser1066= p.S1066= ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,synonymous_variant,p.Ser1066=,ENST00000379458,NM_005960.2;MUC3A,synonymous_variant,p.Ser1066=,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; T ENSG00000169894 ENST00000379458 Transcript synonymous_variant 3289/11248 3198/9972 1066/3323 S tcC/tcT rs1304208188 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . CCA . 384.6 NA NA NA NA NA NA NA NA NA 100954977 MUC3A 57876 . GRCh38 chr7 100954989 100954989 + Silent SNP T T C rs1390720829 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3210T>C p.Thr1070= p.T1070= ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,synonymous_variant,p.Thr1070=,ENST00000379458,NM_005960.2;MUC3A,synonymous_variant,p.Thr1070=,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; C ENSG00000169894 ENST00000379458 Transcript synonymous_variant 3301/11248 3210/9972 1070/3323 T acT/acC rs1390720829 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . CTA . 520.6 NA NA NA NA NA NA NA NA NA 100954989 MUC3A 57876 . GRCh38 chr7 100954997 100954997 + Missense_Mutation SNP T T C rs1440471343 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3218T>C p.Leu1073Pro p.L1073P ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Leu1073Pro,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Leu1073Pro,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; C ENSG00000169894 ENST00000379458 Transcript missense_variant 3309/11248 3218/9972 1073/3323 L/P cTc/cCc rs1440471343 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(1) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . CTC . 553.6 NA NA NA NA NA NA NA NA NA 100954997 MUC3A 57876 . GRCh38 chr7 100955013 100955013 + Silent SNP A A G rs1244769431 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3234A>G p.Arg1078= p.R1078= ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,synonymous_variant,p.Arg1078=,ENST00000379458,NM_005960.2;MUC3A,synonymous_variant,p.Arg1078=,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; G ENSG00000169894 ENST00000379458 Transcript synonymous_variant 3325/11248 3234/9972 1078/3323 R agA/agG rs1244769431 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . GAT . 925.6 NA NA NA NA NA NA NA NA NA 100955013 MUC3A 57876 . GRCh38 chr7 100955044 100955044 + Missense_Mutation SNP A A G rs1370701388 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3265A>G p.Thr1089Ala p.T1089A ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Thr1089Ala,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Thr1089Ala,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; G ENSG00000169894 ENST00000379458 Transcript missense_variant 3356/11248 3265/9972 1089/3323 T/A Act/Gct rs1370701388 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(0.19) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . TAC . 386.6 NA NA NA NA NA NA NA NA NA 100955044 MUC3A 57876 . GRCh38 chr7 100955045 100955045 + Missense_Mutation SNP C C T rs1162586585 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3266C>T p.Thr1089Ile p.T1089I ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Thr1089Ile,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Thr1089Ile,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; T ENSG00000169894 ENST00000379458 Transcript missense_variant 3357/11248 3266/9972 1089/3323 T/I aCt/aTt rs1162586585 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(0.22) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . ACT . 177.6 NA NA NA NA NA NA NA NA NA 100955045 MUC3A 57876 . GRCh38 chr7 100955060 100955060 + Missense_Mutation SNP T T C rs1273883216 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3281T>C p.Ile1094Thr p.I1094T ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Ile1094Thr,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Ile1094Thr,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; C ENSG00000169894 ENST00000379458 Transcript missense_variant 3372/11248 3281/9972 1094/3323 I/T aTt/aCt rs1273883216 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(1) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . ATT . 1177.6 NA NA NA NA NA NA NA NA NA 100955060 MUC3A 57876 . GRCh38 chr7 100955065 100955065 + Missense_Mutation SNP T T A rs1354920161 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3286T>A p.Ser1096Thr p.S1096T ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Ser1096Thr,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Ser1096Thr,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; A ENSG00000169894 ENST00000379458 Transcript missense_variant 3377/11248 3286/9972 1096/3323 S/T Tca/Aca rs1354920161 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(1) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . CTC . 1129.6 NA NA NA NA NA NA NA NA NA 100955065 MUC3A 57876 . GRCh38 chr7 100955103 100955103 + Missense_Mutation SNP A A G rs1450348292 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3324A>G p.Ile1108Met p.I1108M ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Ile1108Met,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Ile1108Met,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; G ENSG00000169894 ENST00000379458 Transcript missense_variant 3415/11248 3324/9972 1108/3323 I/M atA/atG rs1450348292 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(1) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . TAA . 305.6 NA NA NA NA NA NA NA NA NA 100955103 MUC3A 57876 . GRCh38 chr7 100955121 100955121 + Silent SNP T T C rs1229830781 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3342T>C p.Thr1114= p.T1114= ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,synonymous_variant,p.Thr1114=,ENST00000379458,NM_005960.2;MUC3A,synonymous_variant,p.Thr1114=,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; C ENSG00000169894 ENST00000379458 Transcript synonymous_variant 3433/11248 3342/9972 1114/3323 T acT/acC rs1229830781 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . CTG . 110.6 NA NA NA NA NA NA NA NA NA 100955121 MUC3A 57876 . GRCh38 chr7 100955439 100955439 + Silent SNP C C T rs1395038009 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3660C>T p.Leu1220= p.L1220= ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,synonymous_variant,p.Leu1220=,ENST00000379458,NM_005960.2;MUC3A,synonymous_variant,p.Leu1220=,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; T ENSG00000169894 ENST00000379458 Transcript synonymous_variant 3751/11248 3660/9972 1220/3323 L ctC/ctT rs1395038009 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . TCA . 154.6 NA NA NA NA NA NA NA NA NA 100955439 MUC3A 57876 . GRCh38 chr7 100955442 100955442 + Silent SNP A A C rs1026615501 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3663A>C p.Thr1221= p.T1221= ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,synonymous_variant,p.Thr1221=,ENST00000379458,NM_005960.2;MUC3A,synonymous_variant,p.Thr1221=,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; C ENSG00000169894 ENST00000379458 Transcript synonymous_variant 3754/11248 3663/9972 1221/3323 T acA/acC rs1026615501 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . CAT . 172.6 NA NA NA NA NA NA NA NA NA 100955442 MUC3A 57876 . GRCh38 chr7 100955478 100955478 + Silent SNP C C T rs1369459409 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3699C>T p.Ser1233= p.S1233= ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,synonymous_variant,p.Ser1233=,ENST00000379458,NM_005960.2;MUC3A,synonymous_variant,p.Ser1233=,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; T ENSG00000169894 ENST00000379458 Transcript synonymous_variant 3790/11248 3699/9972 1233/3323 S tcC/tcT rs1369459409 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . CCA . 464.6 NA NA NA NA NA NA NA NA NA 100955478 MUC3A 57876 . GRCh38 chr7 100955479 100955479 + Missense_Mutation SNP A A G rs1166635148 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3700A>G p.Thr1234Ala p.T1234A ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Thr1234Ala,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Thr1234Ala,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; G ENSG00000169894 ENST00000379458 Transcript missense_variant 3791/11248 3700/9972 1234/3323 T/A Aca/Gca rs1166635148 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 deleterious_low_confidence(0.04) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . CAC . 394.6 NA NA NA NA NA NA NA NA NA 100955479 MUC3A 57876 . GRCh38 chr7 100955537 100955537 + Missense_Mutation SNP G G A rs1305667129 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3758G>A p.Ser1253Asn p.S1253N ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Ser1253Asn,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Ser1253Asn,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; A ENSG00000169894 ENST00000379458 Transcript missense_variant 3849/11248 3758/9972 1253/3323 S/N aGc/aAc rs1305667129 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 deleterious_low_confidence(0.02) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . AGC . 701.6 NA NA NA NA NA NA NA NA NA 100955537 MUC3A 57876 . GRCh38 chr7 100955552 100955552 + Missense_Mutation SNP C C A rs1419847066 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3773C>A p.Thr1258Asn p.T1258N ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Thr1258Asn,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Thr1258Asn,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; A ENSG00000169894 ENST00000379458 Transcript missense_variant 3864/11248 3773/9972 1258/3323 T/N aCc/aAc rs1419847066 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(0.08) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . ACC . 631.6 NA NA NA NA NA NA NA NA NA 100955552 MUC3A 57876 . GRCh38 chr7 100955563 100955563 + Missense_Mutation SNP T T G rs1251108501 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3784T>G p.Leu1262Val p.L1262V ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Leu1262Val,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Leu1262Val,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; G ENSG00000169894 ENST00000379458 Transcript missense_variant 3875/11248 3784/9972 1262/3323 L/V Ttg/Gtg rs1251108501 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(0.37) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . TTT . 577.6 NA NA NA NA NA NA NA NA NA 100955563 MUC3A 57876 . GRCh38 chr7 100955573 100955573 + Missense_Mutation SNP C C A rs1251886621 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3794C>A p.Thr1265Asn p.T1265N ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Thr1265Asn,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Thr1265Asn,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; A ENSG00000169894 ENST00000379458 Transcript missense_variant 3885/11248 3794/9972 1265/3323 T/N aCt/aAt rs1251886621 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 deleterious_low_confidence(0) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . ACT . 436.6 NA NA NA NA NA NA NA NA NA 100955573 MUC3A 57876 . GRCh38 chr7 100955575 100955575 + Missense_Mutation SNP A A T rs1333139324 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3796A>T p.Ile1266Phe p.I1266F ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Ile1266Phe,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Ile1266Phe,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; T ENSG00000169894 ENST00000379458 Transcript missense_variant 3887/11248 3796/9972 1266/3323 I/F Atc/Ttc rs1333139324 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(0.4) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . TAT . 361.6 NA NA NA NA NA NA NA NA NA 100955575 MUC3A 57876 . GRCh38 chr7 100955577 100955577 + Silent SNP C C T rs1275482478 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3798C>T p.Ile1266= p.I1266= ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,synonymous_variant,p.Ile1266=,ENST00000379458,NM_005960.2;MUC3A,synonymous_variant,p.Ile1266=,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; T ENSG00000169894 ENST00000379458 Transcript synonymous_variant 3889/11248 3798/9972 1266/3323 I atC/atT rs1275482478 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . TCA . 310.6 NA NA NA NA NA NA NA NA NA 100955577 MUC3A 57876 . GRCh38 chr7 100955578 100955578 + Missense_Mutation SNP A A G rs1233497531 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3799A>G p.Thr1267Ala p.T1267A ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Thr1267Ala,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Thr1267Ala,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; G ENSG00000169894 ENST00000379458 Transcript missense_variant 3890/11248 3799/9972 1267/3323 T/A Aca/Gca rs1233497531 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(0.24) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . CAC . 310.6 NA NA NA NA NA NA NA NA NA 100955578 MUC3A 57876 . GRCh38 chr7 100955586 100955586 + Silent SNP T T A rs1285837387 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3807T>A p.Thr1269= p.T1269= ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,synonymous_variant,p.Thr1269=,ENST00000379458,NM_005960.2;MUC3A,synonymous_variant,p.Thr1269=,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; A ENSG00000169894 ENST00000379458 Transcript synonymous_variant 3898/11248 3807/9972 1269/3323 T acT/acA rs1285837387 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . CTG . 187.6 NA NA NA NA NA NA NA NA NA 100955586 MUC3A 57876 . GRCh38 chr7 100955587 100955587 + Missense_Mutation SNP G G C rs1443763215 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3808G>C p.Asp1270His p.D1270H ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Asp1270His,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Asp1270His,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; C ENSG00000169894 ENST00000379458 Transcript missense_variant 3899/11248 3808/9972 1270/3323 D/H Gac/Cac rs1443763215 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(0.39) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . TGA . 136.6 NA NA NA NA NA NA NA NA NA 100955587 MUC3A 57876 . GRCh38 chr7 100955598 100955598 + Silent SNP A A G rs1385049261 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3819A>G p.Leu1273= p.L1273= ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,synonymous_variant,p.Leu1273=,ENST00000379458,NM_005960.2;MUC3A,synonymous_variant,p.Leu1273=,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; G ENSG00000169894 ENST00000379458 Transcript synonymous_variant 3910/11248 3819/9972 1273/3323 L ctA/ctG rs1385049261 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . TAA . 55.6 NA NA NA NA NA NA NA NA NA 100955598 MUC3A 57876 . GRCh38 chr7 100955839 100955839 + Missense_Mutation SNP C C T rs1158000163 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4060C>T p.Pro1354Ser p.P1354S ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Pro1354Ser,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Pro1354Ser,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; T ENSG00000169894 ENST00000379458 Transcript missense_variant 4151/11248 4060/9972 1354/3323 P/S Ccc/Tcc rs1158000163 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(0.68) benign(0.325) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . CCC . 272.6 NA NA NA NA NA NA NA NA NA 100955839 MUC3A 57876 . GRCh38 chr7 100955850 100955850 + Silent SNP A A G rs1488132209 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4071A>G p.Thr1357= p.T1357= ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,synonymous_variant,p.Thr1357=,ENST00000379458,NM_005960.2;MUC3A,synonymous_variant,p.Thr1357=,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; G ENSG00000169894 ENST00000379458 Transcript synonymous_variant 4162/11248 4071/9972 1357/3323 T acA/acG rs1488132209 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . CAG . 497.6 NA NA NA NA NA NA NA NA NA 100955850 MUC3A 57876 . GRCh38 chr7 100955860 100955860 + Missense_Mutation SNP C C A rs1250867870 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4081C>A p.Leu1361Ile p.L1361I ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Leu1361Ile,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Leu1361Ile,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; A ENSG00000169894 ENST00000379458 Transcript missense_variant 4172/11248 4081/9972 1361/3323 L/I Ctt/Att rs1250867870 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(0.56) benign(0.017) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . CCT . 626.6 NA NA NA NA NA NA NA NA NA 100955860 MUC3A 57876 . GRCh38 chr7 100955861 100955861 + Missense_Mutation SNP T T C rs1469946718 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4082T>C p.Leu1361Pro p.L1361P ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Leu1361Pro,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Leu1361Pro,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; C ENSG00000169894 ENST00000379458 Transcript missense_variant 4173/11248 4082/9972 1361/3323 L/P cTt/cCt rs1469946718 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(0.15) benign(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . CTT . 1854.6 NA NA NA NA NA NA NA NA NA 100955861 MUC3A 57876 . GRCh38 chr7 100955888 100955888 + Missense_Mutation SNP C C T rs1443550411 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4109C>T p.Thr1370Ile p.T1370I ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Thr1370Ile,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Thr1370Ile,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; T ENSG00000169894 ENST00000379458 Transcript missense_variant 4200/11248 4109/9972 1370/3323 T/I aCt/aTt rs1443550411 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(0.17) probably_damaging(0.936) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . ACT . 3309.6 NA NA NA NA NA NA NA NA NA 100955888 MUC3A 57876 . GRCh38 chr7 100955893 100955893 + Missense_Mutation SNP T T A rs1287894131 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4114T>A p.Phe1372Ile p.F1372I ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Phe1372Ile,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Phe1372Ile,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; A ENSG00000169894 ENST00000379458 Transcript missense_variant 4205/11248 4114/9972 1372/3323 F/I Ttt/Att rs1287894131 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(0.91) benign(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . CTT . 6673.6 NA NA NA NA NA NA NA NA NA 100955893 MUC3A 57876 . GRCh38 chr7 100955895 100955895 + Missense_Mutation SNP T T A rs1451240015 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4116T>A p.Phe1372Leu p.F1372L ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Phe1372Leu,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Phe1372Leu,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; A ENSG00000169894 ENST00000379458 Transcript missense_variant 4207/11248 4116/9972 1372/3323 F/L ttT/ttA rs1451240015 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(0.76) benign(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . TTT . 1649.6 NA NA NA NA NA NA NA NA NA 100955895 MUC3A 57876 . GRCh38 chr7 100955898 100955898 + Silent SNP T T C rs1346410915 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4119T>C p.Ser1373= p.S1373= ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,synonymous_variant,p.Ser1373=,ENST00000379458,NM_005960.2;MUC3A,synonymous_variant,p.Ser1373=,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; C ENSG00000169894 ENST00000379458 Transcript synonymous_variant 4210/11248 4119/9972 1373/3323 S tcT/tcC rs1346410915 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . CTA . 6424.6 NA NA NA NA NA NA NA NA NA 100955898 MUC3A 57876 . GRCh38 chr7 100955908 100955908 + Missense_Mutation SNP C C T rs939707999 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4129C>T p.Leu1377Phe p.L1377F ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Leu1377Phe,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Leu1377Phe,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; T ENSG00000169894 ENST00000379458 Transcript missense_variant 4220/11248 4129/9972 1377/3323 L/F Ctc/Ttc rs939707999 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(0.12) probably_damaging(0.936) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . TCT . 1417.6 NA NA NA NA NA NA NA NA NA 100955908 MUC3A 57876 . GRCh38 chr7 100955910 100955910 + Silent SNP C C T rs1247224746 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4131C>T p.Leu1377= p.L1377= ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,synonymous_variant,p.Leu1377=,ENST00000379458,NM_005960.2;MUC3A,synonymous_variant,p.Leu1377=,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; T ENSG00000169894 ENST00000379458 Transcript synonymous_variant 4222/11248 4131/9972 1377/3323 L ctC/ctT rs1247224746 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . TCA . 1288.6 NA NA NA NA NA NA NA NA NA 100955910 MUC3A 57876 . GRCh38 chr7 100955912 100955912 + Missense_Mutation SNP C C T rs1204746259 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4133C>T p.Thr1378Ile p.T1378I ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Thr1378Ile,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Thr1378Ile,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; T ENSG00000169894 ENST00000379458 Transcript missense_variant 4224/11248 4133/9972 1378/3323 T/I aCa/aTa rs1204746259 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(0.14) probably_damaging(0.936) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . ACA . 1259.6 NA NA NA NA NA NA NA NA NA 100955912 MUC3A 57876 . GRCh38 chr7 100955913 100955913 + Silent SNP A A G rs1485028709 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4134A>G p.Thr1378= p.T1378= ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,synonymous_variant,p.Thr1378=,ENST00000379458,NM_005960.2;MUC3A,synonymous_variant,p.Thr1378=,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; G ENSG00000169894 ENST00000379458 Transcript synonymous_variant 4225/11248 4134/9972 1378/3323 T acA/acG rs1485028709 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . CAA . 1184.6 NA NA NA NA NA NA NA NA NA 100955913 MUC3A 57876 . GRCh38 chr7 100955917 100955917 + Missense_Mutation SNP G G C rs1262527563 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4138G>C p.Ala1380Pro p.A1380P ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Ala1380Pro,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Ala1380Pro,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; C ENSG00000169894 ENST00000379458 Transcript missense_variant 4229/11248 4138/9972 1380/3323 A/P Gcc/Ccc rs1262527563 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(0.06) probably_damaging(0.96) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . AGC . 1127.6 NA NA NA NA NA NA NA NA NA 100955917 MUC3A 57876 . GRCh38 chr7 100955919 100955919 + Silent SNP C C A rs1216594731 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4140C>A p.Ala1380= p.A1380= ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,synonymous_variant,p.Ala1380=,ENST00000379458,NM_005960.2;MUC3A,synonymous_variant,p.Ala1380=,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; A ENSG00000169894 ENST00000379458 Transcript synonymous_variant 4231/11248 4140/9972 1380/3323 A gcC/gcA rs1216594731 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . CCA . 1037.6 NA NA NA NA NA NA NA NA NA 100955919 MUC3A 57876 . GRCh38 chr7 100955924 100955924 + Missense_Mutation SNP C C T rs1278810412 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4145C>T p.Thr1382Ile p.T1382I ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Thr1382Ile,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Thr1382Ile,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; T ENSG00000169894 ENST00000379458 Transcript missense_variant 4236/11248 4145/9972 1382/3323 T/I aCt/aTt rs1278810412 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(0.13) probably_damaging(0.936) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . ACT . 968.6 NA NA NA NA NA NA NA NA NA 100955924 MUC3A 57876 . GRCh38 chr7 100955932 100955932 + Missense_Mutation SNP C C A rs1237198789 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4153C>A p.Pro1385Thr p.P1385T ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Pro1385Thr,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Pro1385Thr,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; A ENSG00000169894 ENST00000379458 Transcript missense_variant 4244/11248 4153/9972 1385/3323 P/T Ccc/Acc rs1237198789 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(0.39) probably_damaging(0.96) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . TCC . 719.6 NA NA NA NA NA NA NA NA NA 100955932 MUC3A 57876 . GRCh38 chr7 100955934 100955934 + Silent SNP C C T rs1372154399 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4155C>T p.Pro1385= p.P1385= ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,synonymous_variant,p.Pro1385=,ENST00000379458,NM_005960.2;MUC3A,synonymous_variant,p.Pro1385=,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; T ENSG00000169894 ENST00000379458 Transcript synonymous_variant 4246/11248 4155/9972 1385/3323 P ccC/ccT rs1372154399 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . CCC . 1112.6 NA NA NA NA NA NA NA NA NA 100955934 MUC3A 57876 . GRCh38 chr7 100955950 100955950 + Missense_Mutation SNP A A G rs1380133592 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4171A>G p.Ile1391Val p.I1391V ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Ile1391Val,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Ile1391Val,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; G ENSG00000169894 ENST00000379458 Transcript missense_variant 4262/11248 4171/9972 1391/3323 I/V Atc/Gtc rs1380133592 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(0.29) benign(0.009) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . AAT . 599.6 NA NA NA NA NA NA NA NA NA 100955950 MUC3A 57876 . GRCh38 chr7 100955952 100955952 + Missense_Mutation SNP C C G rs1288887133 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4173C>G p.Ile1391Met p.I1391M ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Ile1391Met,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Ile1391Met,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; G ENSG00000169894 ENST00000379458 Transcript missense_variant 4264/11248 4173/9972 1391/3323 I/M atC/atG rs1288887133 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 deleterious_low_confidence(0.03) benign(0.302) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . TCA . 224.6 NA NA NA NA NA NA NA NA NA 100955952 MUC3A 57876 . GRCh38 chr7 100955962 100955962 + Missense_Mutation SNP G G A rs1012661738 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4183G>A p.Asp1395Asn p.D1395N ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Asp1395Asn,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Asp1395Asn,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; A ENSG00000169894 ENST00000379458 Transcript missense_variant 4274/11248 4183/9972 1395/3323 D/N Gat/Aat rs1012661738 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(1) benign(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . CGA . 1206.6 NA NA NA NA NA NA NA NA NA 100955962 MUC3A 57876 . GRCh38 chr7 100955968 100955968 + Missense_Mutation SNP A A G rs1044642983 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4189A>G p.Met1397Val p.M1397V ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Met1397Val,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Met1397Val,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; G ENSG00000169894 ENST00000379458 Transcript missense_variant 4280/11248 4189/9972 1397/3323 M/V Atg/Gtg rs1044642983 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(1) benign(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . AAT . 989.6 NA NA NA NA NA NA NA NA NA 100955968 MUC3A 57876 . GRCh38 chr7 100955981 100955981 + Missense_Mutation SNP G G C rs1194744025 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4202G>C p.Arg1401Thr p.R1401T ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Arg1401Thr,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Arg1401Thr,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; C ENSG00000169894 ENST00000379458 Transcript missense_variant 4293/11248 4202/9972 1401/3323 R/T aGa/aCa rs1194744025 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(1) benign(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . AGA . 1320.6 NA NA NA NA NA NA NA NA NA 100955981 MUC3A 57876 . GRCh38 chr7 100955987 100955987 + Missense_Mutation SNP C C T rs904342068 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4208C>T p.Thr1403Met p.T1403M ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Thr1403Met,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Thr1403Met,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; T ENSG00000169894 ENST00000379458 Transcript missense_variant 4299/11248 4208/9972 1403/3323 T/M aCg/aTg rs904342068 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(0.1) probably_damaging(0.967) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . ACG . 494.6 NA NA NA NA NA NA NA NA NA 100955987 MUC3A 57876 . GRCh38 chr7 100955994 100955994 + Silent SNP T T C rs1251047150 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4215T>C p.Ser1405= p.S1405= ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,synonymous_variant,p.Ser1405=,ENST00000379458,NM_005960.2;MUC3A,synonymous_variant,p.Ser1405=,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; C ENSG00000169894 ENST00000379458 Transcript synonymous_variant 4306/11248 4215/9972 1405/3323 S tcT/tcC rs1251047150 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . CTT . 444.6 NA NA NA NA NA NA NA NA NA 100955994 MUC3A 57876 . GRCh38 chr7 100956018 100956018 + Silent SNP A A G rs955900122 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4239A>G p.Leu1413= p.L1413= ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,synonymous_variant,p.Leu1413=,ENST00000379458,NM_005960.2;MUC3A,synonymous_variant,p.Leu1413=,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; G ENSG00000169894 ENST00000379458 Transcript synonymous_variant 4330/11248 4239/9972 1413/3323 L ttA/ttG rs955900122 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . TAT . 303.6 NA NA NA NA NA NA NA NA NA 100956018 MUC3A 57876 . GRCh38 chr7 100956022 100956022 + Missense_Mutation SNP C C T rs1171625527 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4243C>T p.Pro1415Ser p.P1415S ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Pro1415Ser,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Pro1415Ser,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; T ENSG00000169894 ENST00000379458 Transcript missense_variant 4334/11248 4243/9972 1415/3323 P/S Cca/Tca rs1171625527 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(1) benign(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . ACC . 378.6 NA NA NA NA NA NA NA NA NA 100956022 MUC3A 57876 . GRCh38 chr7 100956024 100956024 + Silent SNP A A C rs1475016815 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4245A>C p.Pro1415= p.P1415= ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,synonymous_variant,p.Pro1415=,ENST00000379458,NM_005960.2;MUC3A,synonymous_variant,p.Pro1415=,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; C ENSG00000169894 ENST00000379458 Transcript synonymous_variant 4336/11248 4245/9972 1415/3323 P ccA/ccC rs1475016815 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . CAC . 378.6 NA NA NA NA NA NA NA NA NA 100956024 MUC3A 57876 . GRCh38 chr7 100956032 100956032 + Missense_Mutation SNP G G C rs1481804193 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4253G>C p.Ser1418Thr p.S1418T ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Ser1418Thr,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Ser1418Thr,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; C ENSG00000169894 ENST00000379458 Transcript missense_variant 4344/11248 4253/9972 1418/3323 S/T aGt/aCt rs1481804193 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(0.08) possibly_damaging(0.691) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . AGT . 359.6 NA NA NA NA NA NA NA NA NA 100956032 MUC3A 57876 . GRCh38 chr7 100956035 100956035 + Missense_Mutation SNP G G A rs1232247260 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4256G>A p.Ser1419Asn p.S1419N ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Ser1419Asn,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Ser1419Asn,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; A ENSG00000169894 ENST00000379458 Transcript missense_variant 4347/11248 4256/9972 1419/3323 S/N aGc/aAc rs1232247260 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(0.28) benign(0.017) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . AGC . 395.6 NA NA NA NA NA NA NA NA NA 100956035 MUC3A 57876 . GRCh38 chr7 100956060 100956060 + Silent SNP A A G rs1325009877 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4281A>G p.Pro1427= p.P1427= ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,synonymous_variant,p.Pro1427=,ENST00000379458,NM_005960.2;MUC3A,synonymous_variant,p.Pro1427=,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; G ENSG00000169894 ENST00000379458 Transcript synonymous_variant 4372/11248 4281/9972 1427/3323 P ccA/ccG rs1325009877 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . CAA . 152.6 NA NA NA NA NA NA NA NA NA 100956060 MUC3A 57876 . GRCh38 chr7 100956070 100956070 + Missense_Mutation SNP G G A rs1167448779 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4291G>A p.Val1431Met p.V1431M ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Val1431Met,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Val1431Met,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; A ENSG00000169894 ENST00000379458 Transcript missense_variant 4382/11248 4291/9972 1431/3323 V/M Gtg/Atg rs1167448779 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(0.09) possibly_damaging(0.848) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . GGT . 50.6 NA NA NA NA NA NA NA NA NA 100956070 MUC3A 57876 . GRCh38 chr7 100956071 100956071 + Missense_Mutation SNP T T G rs1473165842 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4292T>G p.Val1431Gly p.V1431G ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Val1431Gly,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Val1431Gly,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; G ENSG00000169894 ENST00000379458 Transcript missense_variant 4383/11248 4292/9972 1431/3323 V/G gTg/gGg rs1473165842 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(0.51) possibly_damaging(0.514) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . GTG . 59.6 NA NA NA NA NA NA NA NA NA 100956071 MUC3A 57876 . GRCh38 chr7 100956207 100956207 + Silent SNP A A G rs1208576557 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4428A>G p.Thr1476= p.T1476= ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,synonymous_variant,p.Thr1476=,ENST00000379458,NM_005960.2;MUC3A,synonymous_variant,p.Thr1476=,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; G ENSG00000169894 ENST00000379458 Transcript synonymous_variant 4519/11248 4428/9972 1476/3323 T acA/acG rs1208576557 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . CAA . 294.6 NA NA NA NA NA NA NA NA NA 100956207 MUC3A 57876 . GRCh38 chr7 100956223 100956223 + Missense_Mutation SNP C C T rs1213784400 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4444C>T p.Pro1482Ser p.P1482S ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Pro1482Ser,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Pro1482Ser,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; T ENSG00000169894 ENST00000379458 Transcript missense_variant 4535/11248 4444/9972 1482/3323 P/S Ccc/Tcc rs1213784400 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(0.51) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . TCC . 592.6 NA NA NA NA NA NA NA NA NA 100956223 MUC3A 57876 . GRCh38 chr7 100956228 100956228 + Silent SNP C C T rs1402122547 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4449C>T p.Thr1483= p.T1483= ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,synonymous_variant,p.Thr1483=,ENST00000379458,NM_005960.2;MUC3A,synonymous_variant,p.Thr1483=,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; T ENSG00000169894 ENST00000379458 Transcript synonymous_variant 4540/11248 4449/9972 1483/3323 T acC/acT rs1402122547 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . CCA . 640.6 NA NA NA NA NA NA NA NA NA 100956228 MUC3A 57876 . GRCh38 chr7 100956249 100956249 + Silent SNP T T C rs1417868346 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4470T>C p.Ser1490= p.S1490= ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,synonymous_variant,p.Ser1490=,ENST00000379458,NM_005960.2;MUC3A,synonymous_variant,p.Ser1490=,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; C ENSG00000169894 ENST00000379458 Transcript synonymous_variant 4561/11248 4470/9972 1490/3323 S tcT/tcC rs1417868346 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . CTA . 1033.6 NA NA NA NA NA NA NA NA NA 100956249 MUC3A 57876 . GRCh38 chr7 100956251 100956251 + Missense_Mutation SNP C C G rs1169266486 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4472C>G p.Thr1491Ser p.T1491S ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Thr1491Ser,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Thr1491Ser,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; G ENSG00000169894 ENST00000379458 Transcript missense_variant 4563/11248 4472/9972 1491/3323 T/S aCt/aGt rs1169266486 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(0.1) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . ACT . 1048.6 NA NA NA NA NA NA NA NA NA 100956251 MUC3A 57876 . GRCh38 chr7 100956269 100956269 + Missense_Mutation SNP C C T rs1435832477 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4490C>T p.Pro1497Leu p.P1497L ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Pro1497Leu,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Pro1497Leu,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; T ENSG00000169894 ENST00000379458 Transcript missense_variant 4581/11248 4490/9972 1497/3323 P/L cCc/cTc rs1435832477 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(0.22) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . CCC . 1576.6 NA NA NA NA NA NA NA NA NA 100956269 MUC3A 57876 . GRCh38 chr7 100956277 100956277 + Missense_Mutation SNP T T C rs1318884032 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4498T>C p.Ser1500Pro p.S1500P ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Ser1500Pro,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Ser1500Pro,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; C ENSG00000169894 ENST00000379458 Transcript missense_variant 4589/11248 4498/9972 1500/3323 S/P Tcc/Ccc rs1318884032 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(0.34) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . TTC . 1807.6 NA NA NA NA NA NA NA NA NA 100956277 MUC3A 57876 . GRCh38 chr7 100956292 100956292 + Missense_Mutation SNP G G A rs1162418239 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4513G>A p.Ala1505Thr p.A1505T ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Ala1505Thr,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Ala1505Thr,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; A ENSG00000169894 ENST00000379458 Transcript missense_variant 4604/11248 4513/9972 1505/3323 A/T Gca/Aca rs1162418239 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(0.96) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . CGC . 1920.6 NA NA NA NA NA NA NA NA NA 100956292 MUC3A 57876 . GRCh38 chr7 100956320 100956320 + Missense_Mutation SNP A A T rs1272782481 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4541A>T p.Asn1514Ile p.N1514I ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Asn1514Ile,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Asn1514Ile,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; T ENSG00000169894 ENST00000379458 Transcript missense_variant 4632/11248 4541/9972 1514/3323 N/I aAc/aTc rs1272782481 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(0.2) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . AAC . 2133.6 NA NA NA NA NA NA NA NA NA 100956320 MUC3A 57876 . GRCh38 chr7 100956382 100956382 + Missense_Mutation SNP A A G rs1288774255 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4603A>G p.Ile1535Val p.I1535V ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Ile1535Val,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Ile1535Val,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; G ENSG00000169894 ENST00000379458 Transcript missense_variant 4694/11248 4603/9972 1535/3323 I/V Atc/Gtc rs1288774255 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(0.27) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . CAT . 6192.6 NA NA NA NA NA NA NA NA NA 100956382 MUC3A 57876 . GRCh38 chr7 100956395 100956395 + Missense_Mutation SNP C C G rs1301729060 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4616C>G p.Ala1539Gly p.A1539G ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Ala1539Gly,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Ala1539Gly,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; G ENSG00000169894 ENST00000379458 Transcript missense_variant 4707/11248 4616/9972 1539/3323 A/G gCc/gGc rs1301729060 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(0.35) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . GCC . 106.6 NA NA NA NA NA NA NA NA NA 100956395 MUC3A 57876 . GRCh38 chr7 100956404 100956404 + Missense_Mutation SNP C C A rs1367884493 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4625C>A p.Pro1542His p.P1542H ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Pro1542His,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Pro1542His,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; A ENSG00000169894 ENST00000379458 Transcript missense_variant 4716/11248 4625/9972 1542/3323 P/H cCc/cAc rs1367884493 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(0.27) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . CCC . 8160.6 NA NA NA NA NA NA NA NA NA 100956404 MUC3A 57876 . GRCh38 chr7 100956408 100956408 + Silent SNP C C A rs1287983872 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4629C>A p.Thr1543= p.T1543= ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,synonymous_variant,p.Thr1543=,ENST00000379458,NM_005960.2;MUC3A,synonymous_variant,p.Thr1543=,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; A ENSG00000169894 ENST00000379458 Transcript synonymous_variant 4720/11248 4629/9972 1543/3323 T acC/acA rs1287983872 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . CCA . 152.6 NA NA NA NA NA NA NA NA NA 100956408 MUC3A 57876 . GRCh38 chr7 100956420 100956420 + Silent SNP C C T rs1434056656 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4641C>T p.Thr1547= p.T1547= ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,synonymous_variant,p.Thr1547=,ENST00000379458,NM_005960.2;MUC3A,synonymous_variant,p.Thr1547=,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; T ENSG00000169894 ENST00000379458 Transcript synonymous_variant 4732/11248 4641/9972 1547/3323 T acC/acT rs1434056656 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . CCT . 6471.6 NA NA NA NA NA NA NA NA NA 100956420 MUC3A 57876 . GRCh38 chr7 100956432 100956432 + Silent SNP T T A rs1186214433 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4653T>A p.Thr1551= p.T1551= ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,synonymous_variant,p.Thr1551=,ENST00000379458,NM_005960.2;MUC3A,synonymous_variant,p.Thr1551=,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; A ENSG00000169894 ENST00000379458 Transcript synonymous_variant 4744/11248 4653/9972 1551/3323 T acT/acA rs1186214433 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . CTA . 284.6 NA NA NA NA NA NA NA NA NA 100956432 MUC3A 57876 . GRCh38 chr7 100956443 100956443 + Missense_Mutation SNP C C A rs1235870137 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4664C>A p.Thr1555Asn p.T1555N ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Thr1555Asn,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Thr1555Asn,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; A ENSG00000169894 ENST00000379458 Transcript missense_variant 4755/11248 4664/9972 1555/3323 T/N aCc/aAc rs1235870137 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 deleterious_low_confidence(0.02) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . ACC . 281.6 NA NA NA NA NA NA NA NA NA 100956443 MUC3A 57876 . GRCh38 chr7 100956464 100956464 + Missense_Mutation SNP T T G rs1373570695 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4685T>G p.Met1562Arg p.M1562R ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Met1562Arg,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Met1562Arg,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; G ENSG00000169894 ENST00000379458 Transcript missense_variant 4776/11248 4685/9972 1562/3323 M/R aTg/aGg rs1373570695 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 deleterious_low_confidence(0.05) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . ATG . 8149.6 NA NA NA NA NA NA NA NA NA 100956464 MUC3A 57876 . GRCh38 chr7 100956476 100956476 + Missense_Mutation SNP C C G rs1476976216 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4697C>G p.Thr1566Ser p.T1566S ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Thr1566Ser,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Thr1566Ser,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; G ENSG00000169894 ENST00000379458 Transcript missense_variant 4788/11248 4697/9972 1566/3323 T/S aCt/aGt rs1476976216 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(1) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . ACT . 8209.6 NA NA NA NA NA NA NA NA NA 100956476 MUC3A 57876 . GRCh38 chr7 100956478 100956478 + Missense_Mutation SNP G G C rs1425816027 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4699G>C p.Val1567Leu p.V1567L ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Val1567Leu,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Val1567Leu,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; C ENSG00000169894 ENST00000379458 Transcript missense_variant 4790/11248 4699/9972 1567/3323 V/L Gtg/Ctg rs1425816027 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(1) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . TGT . 8173.6 NA NA NA NA NA NA NA NA NA 100956478 MUC3A 57876 . GRCh38 chr7 100956480 100956480 + Silent SNP G G C rs1194482765 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4701G>C p.Val1567= p.V1567= ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,synonymous_variant,p.Val1567=,ENST00000379458,NM_005960.2;MUC3A,synonymous_variant,p.Val1567=,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; C ENSG00000169894 ENST00000379458 Transcript synonymous_variant 4792/11248 4701/9972 1567/3323 V gtG/gtC rs1194482765 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . TGA . 8083.6 NA NA NA NA NA NA NA NA NA 100956480 MUC3A 57876 . GRCh38 chr7 100956488 100956488 + Missense_Mutation SNP G G A rs1251131907 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4709G>A p.Gly1570Asp p.G1570D ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Gly1570Asp,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Gly1570Asp,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; A ENSG00000169894 ENST00000379458 Transcript missense_variant 4800/11248 4709/9972 1570/3323 G/D gGt/gAt rs1251131907 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(0.6) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . GGT . 7544.6 NA NA NA NA NA NA NA NA NA 100956488 MUC3A 57876 . GRCh38 chr7 100956513 100956513 + Silent SNP T T C rs1314731293 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4734T>C p.Thr1578= p.T1578= ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,synonymous_variant,p.Thr1578=,ENST00000379458,NM_005960.2;MUC3A,synonymous_variant,p.Thr1578=,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; C ENSG00000169894 ENST00000379458 Transcript synonymous_variant 4825/11248 4734/9972 1578/3323 T acT/acC rs1314731293 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . CTA . 6893.6 NA NA NA NA NA NA NA NA NA 100956513 MUC3A 57876 . GRCh38 chr7 100956516 100956516 + Silent SNP T T C rs1296270843 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4737T>C p.Ile1579= p.I1579= ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,synonymous_variant,p.Ile1579=,ENST00000379458,NM_005960.2;MUC3A,synonymous_variant,p.Ile1579=,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; C ENSG00000169894 ENST00000379458 Transcript synonymous_variant 4828/11248 4737/9972 1579/3323 I atT/atC rs1296270843 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . TTA . 6884.6 NA NA NA NA NA NA NA NA NA 100956516 MUC3A 57876 . GRCh38 chr7 100956525 100956525 + Silent SNP A A C rs1190166512 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4746A>C p.Ser1582= p.S1582= ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,synonymous_variant,p.Ser1582=,ENST00000379458,NM_005960.2;MUC3A,synonymous_variant,p.Ser1582=,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; C ENSG00000169894 ENST00000379458 Transcript synonymous_variant 4837/11248 4746/9972 1582/3323 S tcA/tcC rs1190166512 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . CAT . 1896.6 NA NA NA NA NA NA NA NA NA 100956525 MUC3A 57876 . GRCh38 chr7 100956528 100956528 + Silent SNP C C T rs1250178795 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4749C>T p.Ser1583= p.S1583= ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,synonymous_variant,p.Ser1583=,ENST00000379458,NM_005960.2;MUC3A,synonymous_variant,p.Ser1583=,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; T ENSG00000169894 ENST00000379458 Transcript synonymous_variant 4840/11248 4749/9972 1583/3323 S tcC/tcT rs1250178795 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . CCG . 6984.6 NA NA NA NA NA NA NA NA NA 100956528 MUC3A 57876 . GRCh38 chr7 100956535 100956535 + Missense_Mutation SNP A A C rs1258296416 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4756A>C p.Ile1586Leu p.I1586L ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Ile1586Leu,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Ile1586Leu,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; C ENSG00000169894 ENST00000379458 Transcript missense_variant 4847/11248 4756/9972 1586/3323 I/L Atc/Ctc rs1258296416 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(0.06) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . CAT . 1907.6 NA NA NA NA NA NA NA NA NA 100956535 MUC3A 57876 . GRCh38 chr7 100956539 100956539 + Missense_Mutation SNP G G C rs993026270 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4760G>C p.Ser1587Thr p.S1587T ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Ser1587Thr,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Ser1587Thr,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; C ENSG00000169894 ENST00000379458 Transcript missense_variant 4851/11248 4760/9972 1587/3323 S/T aGt/aCt rs993026270 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(0.92) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . AGT . 7455.6 NA NA NA NA NA NA NA NA NA 100956539 MUC3A 57876 . GRCh38 chr7 100956611 100956611 + Missense_Mutation SNP G G C rs1387419358 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4832G>C p.Ser1611Thr p.S1611T ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Ser1611Thr,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Ser1611Thr,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; C ENSG00000169894 ENST00000379458 Transcript missense_variant 4923/11248 4832/9972 1611/3323 S/T aGt/aCt rs1387419358 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(0.31) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . AGT . 869.6 NA NA NA NA NA NA NA NA NA 100956611 MUC3A 57876 . GRCh38 chr7 100956622 100956622 + Missense_Mutation SNP T T A rs1422082584 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4843T>A p.Ser1615Thr p.S1615T ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Ser1615Thr,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Ser1615Thr,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; A ENSG00000169894 ENST00000379458 Transcript missense_variant 4934/11248 4843/9972 1615/3323 S/T Tca/Aca rs1422082584 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(0.07) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . TTC . 80.6 NA NA NA NA NA NA NA NA NA 100956622 MUC3A 57876 . GRCh38 chr7 100956629 100956629 + Missense_Mutation SNP C C T rs1173409643 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4850C>T p.Pro1617Leu p.P1617L ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Pro1617Leu,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Pro1617Leu,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; T ENSG00000169894 ENST00000379458 Transcript missense_variant 4941/11248 4850/9972 1617/3323 P/L cCc/cTc rs1173409643 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(0.06) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . CCC . 95.6 NA NA NA NA NA NA NA NA NA 100956629 MUC3A 57876 . GRCh38 chr7 100956663 100956663 + Silent SNP T T C rs1218655435 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4884T>C p.Val1628= p.V1628= ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,synonymous_variant,p.Val1628=,ENST00000379458,NM_005960.2;MUC3A,synonymous_variant,p.Val1628=,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; C ENSG00000169894 ENST00000379458 Transcript synonymous_variant 4975/11248 4884/9972 1628/3323 V gtT/gtC rs1218655435 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . TTA . 1231.6 NA NA NA NA NA NA NA NA NA 100956663 MUC3A 57876 . GRCh38 chr7 100956671 100956671 + Missense_Mutation SNP T T C rs1276794809 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4892T>C p.Met1631Thr p.M1631T ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Met1631Thr,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Met1631Thr,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; C ENSG00000169894 ENST00000379458 Transcript missense_variant 4983/11248 4892/9972 1631/3323 M/T aTg/aCg rs1276794809 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(1) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . ATG . 1176.6 NA NA NA NA NA NA NA NA NA 100956671 MUC3A 57876 . GRCh38 chr7 100956672 100956672 + Missense_Mutation SNP G G C rs1234299865 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4893G>C p.Met1631Ile p.M1631I ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Met1631Ile,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Met1631Ile,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; C ENSG00000169894 ENST00000379458 Transcript missense_variant 4984/11248 4893/9972 1631/3323 M/I atG/atC rs1234299865 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(0.22) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . TGT . 1179.6 NA NA NA NA NA NA NA NA NA 100956672 MUC3A 57876 . GRCh38 chr7 100956678 100956678 + Silent SNP T T C rs996863062 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4899T>C p.Ala1633= p.A1633= ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,synonymous_variant,p.Ala1633=,ENST00000379458,NM_005960.2;MUC3A,synonymous_variant,p.Ala1633=,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; C ENSG00000169894 ENST00000379458 Transcript synonymous_variant 4990/11248 4899/9972 1633/3323 A gcT/gcC rs996863062 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . CTA . 1081.6 NA NA NA NA NA NA NA NA NA 100956678 MUC3A 57876 . GRCh38 chr7 100956693 100956693 + Silent SNP A A G rs1413091762 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4914A>G p.Gly1638= p.G1638= ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,synonymous_variant,p.Gly1638=,ENST00000379458,NM_005960.2;MUC3A,synonymous_variant,p.Gly1638=,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; G ENSG00000169894 ENST00000379458 Transcript synonymous_variant 5005/11248 4914/9972 1638/3323 G ggA/ggG rs1413091762 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . GAG . 113.64 NA NA NA NA NA NA NA NA NA 100956693 MUC3A 57876 . GRCh38 chr7 100956694 100956694 + Missense_Mutation SNP G G A rs1427758268 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4915G>A p.Gly1639Arg p.G1639R ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Gly1639Arg,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Gly1639Arg,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; A ENSG00000169894 ENST00000379458 Transcript missense_variant 5006/11248 4915/9972 1639/3323 G/R Gga/Aga rs1427758268 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(0.31) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . AGG . 324.6 NA NA NA NA NA NA NA NA NA 100956694 MUC3A 57876 . GRCh38 chr7 100956697 100956697 + Missense_Mutation SNP C C T rs888574123 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4918C>T p.Pro1640Ser p.P1640S ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Pro1640Ser,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Pro1640Ser,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; T ENSG00000169894 ENST00000379458 Transcript missense_variant 5009/11248 4918/9972 1640/3323 P/S Cca/Tca rs888574123 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(0.59) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . ACC . 3617.6 NA NA NA NA NA NA NA NA NA 100956697 MUC3A 57876 . GRCh38 chr7 100956873 100956873 + Silent SNP A A G rs1024883687 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.5094A>G p.Pro1698= p.P1698= ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,synonymous_variant,p.Pro1698=,ENST00000379458,NM_005960.2;MUC3A,synonymous_variant,p.Pro1698=,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; G ENSG00000169894 ENST00000379458 Transcript synonymous_variant 5185/11248 5094/9972 1698/3323 P ccA/ccG rs1024883687 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . CAT . 5530.6 NA NA NA NA NA NA NA NA NA 100956873 MUC3A 57876 . GRCh38 chr7 100956991 100956991 + Missense_Mutation SNP A A G rs1395402870 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.5212A>G p.Lys1738Glu p.K1738E ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Lys1738Glu,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Lys1738Glu,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; G ENSG00000169894 ENST00000379458 Transcript missense_variant 5303/11248 5212/9972 1738/3323 K/E Aag/Gag rs1395402870 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(1) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . TAA . 7298.6 NA NA NA NA NA NA NA NA NA 100956991 MUC3A 57876 . GRCh38 chr7 100956998 100956998 + Missense_Mutation SNP C C A rs1467724933 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.5219C>A p.Thr1740Asn p.T1740N ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Thr1740Asn,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Thr1740Asn,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; A ENSG00000169894 ENST00000379458 Transcript missense_variant 5310/11248 5219/9972 1740/3323 T/N aCc/aAc rs1467724933 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 deleterious_low_confidence(0) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . ACC . 7272.6 NA NA NA NA NA NA NA NA NA 100956998 MUC3A 57876 . GRCh38 chr7 100957003 100957003 + Silent SNP C C T rs1170321696 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.5224C>T p.Leu1742= p.L1742= ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,synonymous_variant,p.Leu1742=,ENST00000379458,NM_005960.2;MUC3A,synonymous_variant,p.Leu1742=,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; T ENSG00000169894 ENST00000379458 Transcript synonymous_variant 5315/11248 5224/9972 1742/3323 L Ctg/Ttg rs1170321696 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . ACT . 7034.6 NA NA NA NA NA NA NA NA NA 100957003 MUC3A 57876 . GRCh38 chr7 100957015 100957015 + Missense_Mutation SNP T T C rs1194458035 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.5236T>C p.Ser1746Pro p.S1746P ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Ser1746Pro,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Ser1746Pro,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; C ENSG00000169894 ENST00000379458 Transcript missense_variant 5327/11248 5236/9972 1746/3323 S/P Tct/Cct rs1194458035 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(0.26) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . CTC . 6571.6 NA NA NA NA NA NA NA NA NA 100957015 MUC3A 57876 . GRCh38 chr7 100957047 100957047 + Silent SNP C C A rs1258175114 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.5268C>A p.Ala1756= p.A1756= ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,synonymous_variant,p.Ala1756=,ENST00000379458,NM_005960.2;MUC3A,synonymous_variant,p.Ala1756=,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; A ENSG00000169894 ENST00000379458 Transcript synonymous_variant 5359/11248 5268/9972 1756/3323 A gcC/gcA rs1258175114 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . CCG . 3085.6 NA NA NA NA NA NA NA NA NA 100957047 MUC3A 57876 . GRCh38 chr7 100957078 100957078 + Missense_Mutation SNP A A G rs1353732967 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.5299A>G p.Ile1767Val p.I1767V ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Ile1767Val,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Ile1767Val,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; G ENSG00000169894 ENST00000379458 Transcript missense_variant 5390/11248 5299/9972 1767/3323 I/V Atc/Gtc rs1353732967 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(0.08) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . AAT . 4121.6 NA NA NA NA NA NA NA NA NA 100957078 MUC3A 57876 . GRCh38 chr7 100957083 100957083 + Silent SNP C C T rs1245494471 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.5304C>T p.Thr1768= p.T1768= ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,synonymous_variant,p.Thr1768=,ENST00000379458,NM_005960.2;MUC3A,synonymous_variant,p.Thr1768=,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; T ENSG00000169894 ENST00000379458 Transcript synonymous_variant 5395/11248 5304/9972 1768/3323 T acC/acT rs1245494471 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . CCT . 4058.6 NA NA NA NA NA NA NA NA NA 100957083 MUC3A 57876 . GRCh38 chr7 100957095 100957095 + Silent SNP G G A rs1386249834 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.5316G>A p.Thr1772= p.T1772= ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,synonymous_variant,p.Thr1772=,ENST00000379458,NM_005960.2;MUC3A,synonymous_variant,p.Thr1772=,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; A ENSG00000169894 ENST00000379458 Transcript synonymous_variant 5407/11248 5316/9972 1772/3323 T acG/acA rs1386249834 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . CGG . 3692.6 NA NA NA NA NA NA NA NA NA 100957095 MUC3A 57876 . GRCh38 chr7 100957103 100957103 + Missense_Mutation SNP C C T rs1045922275 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.5324C>T p.Ser1775Leu p.S1775L ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Ser1775Leu,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Ser1775Leu,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; T ENSG00000169894 ENST00000379458 Transcript missense_variant 5415/11248 5324/9972 1775/3323 S/L tCg/tTg rs1045922275 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 deleterious_low_confidence(0) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . TCG . 3533.6 NA NA NA NA NA NA NA NA NA 100957103 MUC3A 57876 . GRCh38 chr7 100957104 100957104 + Silent SNP G G T rs1157249446 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.5325G>T p.Ser1775= p.S1775= ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,synonymous_variant,p.Ser1775=,ENST00000379458,NM_005960.2;MUC3A,synonymous_variant,p.Ser1775=,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; T ENSG00000169894 ENST00000379458 Transcript synonymous_variant 5416/11248 5325/9972 1775/3323 S tcG/tcT rs1157249446 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . CGA . 3596.6 NA NA NA NA NA NA NA NA NA 100957104 MUC3A 57876 . GRCh38 chr7 100957117 100957117 + Missense_Mutation SNP A A G rs1223084315 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.5338A>G p.Thr1780Ala p.T1780A ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Thr1780Ala,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Thr1780Ala,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; G ENSG00000169894 ENST00000379458 Transcript missense_variant 5429/11248 5338/9972 1780/3323 T/A Acc/Gcc rs1223084315 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(0.32) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . CAC . 2906.6 NA NA NA NA NA NA NA NA NA 100957117 MUC3A 57876 . GRCh38 chr7 100957125 100957127 + In_Frame_Del DEL AGG AGG - rs1422404475 NA HCI-EC-23 NORMAL AGG AGG NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.5346_5348del p.Gly1783del p.G1783del ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,inframe_deletion,p.Gly1783del,ENST00000379458,NM_005960.2;MUC3A,inframe_deletion,p.Gly1783del,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; - ENSG00000169894 ENST00000379458 Transcript inframe_deletion 5437-5439/11248 5346-5348/9972 1782-1783/3323 LG/L ctAGGg/ctg rs1422404475 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 deletion 5 NA NA NA . CTAGGG . 2529.6 NA NA NA NA NA NA NA NA NA 100957124 MUC3A 57876 . GRCh38 chr7 100957146 100957146 + Silent SNP G G A rs1378797034 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.5367G>A p.Thr1789= p.T1789= ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,synonymous_variant,p.Thr1789=,ENST00000379458,NM_005960.2;MUC3A,synonymous_variant,p.Thr1789=,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; A ENSG00000169894 ENST00000379458 Transcript synonymous_variant 5458/11248 5367/9972 1789/3323 T acG/acA rs1378797034 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . CGT . 1848.6 NA NA NA NA NA NA NA NA NA 100957146 MUC3A 57876 . GRCh38 chr7 100957158 100957158 + Silent SNP T T C rs1218765146 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.5379T>C p.Phe1793= p.F1793= ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,synonymous_variant,p.Phe1793=,ENST00000379458,NM_005960.2;MUC3A,synonymous_variant,p.Phe1793=,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; C ENSG00000169894 ENST00000379458 Transcript synonymous_variant 5470/11248 5379/9972 1793/3323 F ttT/ttC rs1218765146 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . TTA . 1794.6 NA NA NA NA NA NA NA NA NA 100957158 MUC3A 57876 . GRCh38 chr7 100957181 100957181 + Missense_Mutation SNP C C T rs1403899741 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.5402C>T p.Thr1801Met p.T1801M ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Thr1801Met,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Thr1801Met,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; T ENSG00000169894 ENST00000379458 Transcript missense_variant 5493/11248 5402/9972 1801/3323 T/M aCg/aTg rs1403899741 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(0.07) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . ACG . 1762.6 NA NA NA NA NA NA NA NA NA 100957181 MUC3A 57876 . GRCh38 chr7 100957183 100957183 + Missense_Mutation SNP C C A rs1420864111 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.5404C>A p.Pro1802Thr p.P1802T ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Pro1802Thr,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Pro1802Thr,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; A ENSG00000169894 ENST00000379458 Transcript missense_variant 5495/11248 5404/9972 1802/3323 P/T Cct/Act rs1420864111 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 deleterious_low_confidence(0.02) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . GCC . 1889.6 NA NA NA NA NA NA NA NA NA 100957183 MUC3A 57876 . GRCh38 chr7 100957207 100957207 + Missense_Mutation SNP A A G rs1340700465 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.5428A>G p.Thr1810Ala p.T1810A ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Thr1810Ala,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Thr1810Ala,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; G ENSG00000169894 ENST00000379458 Transcript missense_variant 5519/11248 5428/9972 1810/3323 T/A Acc/Gcc rs1340700465 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 deleterious_low_confidence(0) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . CAC . 2104.6 NA NA NA NA NA NA NA NA NA 100957207 MUC3A 57876 . GRCh38 chr7 100957214 100957214 + Missense_Mutation SNP G G A rs1336924449 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.5435G>A p.Gly1812Asp p.G1812D ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Gly1812Asp,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Gly1812Asp,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; A ENSG00000169894 ENST00000379458 Transcript missense_variant 5526/11248 5435/9972 1812/3323 G/D gGt/gAt rs1336924449 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(0.41) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . GGT . 2032.6 NA NA NA NA NA NA NA NA NA 100957214 MUC3A 57876 . GRCh38 chr7 100957242 100957242 + Silent SNP A A C rs1243555383 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.5463A>C p.Thr1821= p.T1821= ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,synonymous_variant,p.Thr1821=,ENST00000379458,NM_005960.2;MUC3A,synonymous_variant,p.Thr1821=,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; C ENSG00000169894 ENST00000379458 Transcript synonymous_variant 5554/11248 5463/9972 1821/3323 T acA/acC rs1243555383 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . CAT . 1928.6 NA NA NA NA NA NA NA NA NA 100957242 MUC3A 57876 . GRCh38 chr7 100957253 100957253 + Missense_Mutation SNP C C T rs1289761829 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.5474C>T p.Thr1825Ile p.T1825I ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Thr1825Ile,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Thr1825Ile,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; T ENSG00000169894 ENST00000379458 Transcript missense_variant 5565/11248 5474/9972 1825/3323 T/I aCa/aTa rs1289761829 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 deleterious_low_confidence(0) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . ACA . 2085.6 NA NA NA NA NA NA NA NA NA 100957253 MUC3A 57876 . GRCh38 chr7 100957266 100957266 + Silent SNP C C T rs1374178955 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.5487C>T p.Ser1829= p.S1829= ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,synonymous_variant,p.Ser1829=,ENST00000379458,NM_005960.2;MUC3A,synonymous_variant,p.Ser1829=,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; T ENSG00000169894 ENST00000379458 Transcript synonymous_variant 5578/11248 5487/9972 1829/3323 S tcC/tcT rs1374178955 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . CCG . 2154.6 NA NA NA NA NA NA NA NA NA 100957266 MUC3A 57876 . GRCh38 chr7 100958300 100958301 + Frame_Shift_Ins INS - - TACTCCCA novel NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.6521_6522insTACTCCCA p.Arg2174SerfsTer123 p.R2174Sfs*123 ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,frameshift_variant,p.Arg2174SerfsTer123,ENST00000379458,NM_005960.2;MUC3A,frameshift_variant,p.Arg2174SerfsTer123,ENST00000483366,;MUC3A,frameshift_variant,p.Arg113SerfsTer123,ENST00000414964,;,regulatory_region_variant,,ENSR00001129051,;,TF_binding_site_variant,,ENSM00522211283,;,TF_binding_site_variant,,ENSM00522657045,;,TF_binding_site_variant,,ENSM00522934173,;,TF_binding_site_variant,,ENSM00012398415,;,TF_binding_site_variant,,ENSM00523401849,;,TF_binding_site_variant,,ENSM00523598543,;,TF_binding_site_variant,,ENSM00523659673,; TACTCCCA ENSG00000169894 ENST00000379458 Transcript frameshift_variant 6612-6613/11248 6521-6522/9972 2174/3323 R/STPX agg/agTACTCCCAg 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 2/12 MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 insertion 5 NA NA NA . AGG . 17092.06 NA NA NA NA NA NA NA NA NA 100958300 MUC3A 57876 . GRCh38 chr7 100958301 100958302 + In_Frame_Ins INS - - CTTCACTTCTTTGATAACCACCTC novel NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.6522_6523insCTTCACTTCTTTGATAACCACCTC p.Arg2174_Trp2175insLeuHisPhePheAspAsnHisLeu p.R2174_W2175insLHFFDNHL ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,inframe_insertion,p.Arg2174_Trp2175insLeuHisPhePheAspAsnHisLeu,ENST00000379458,NM_005960.2;MUC3A,inframe_insertion,p.Arg2174_Trp2175insLeuHisPhePheAspAsnHisLeu,ENST00000483366,;MUC3A,inframe_insertion,p.Arg113_Trp114insLeuHisPhePheAspAsnHisLeu,ENST00000414964,;,regulatory_region_variant,,ENSR00001129051,;,TF_binding_site_variant,,ENSM00522211283,;,TF_binding_site_variant,,ENSM00522657045,;,TF_binding_site_variant,,ENSM00522934173,;,TF_binding_site_variant,,ENSM00012398415,;,TF_binding_site_variant,,ENSM00523401849,;,TF_binding_site_variant,,ENSM00523598543,;,TF_binding_site_variant,,ENSM00523659673,; CTTCACTTCTTTGATAACCACCTC ENSG00000169894 ENST00000379458 Transcript inframe_insertion 6613-6614/11248 6522-6523/9972 2174-2175/3323 -/LHFFDNHL -/CTTCACTTCTTTGATAACCACCTC 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 2/12 MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 insertion 5 NA NA NA . GGT . 17299.06 NA NA NA NA NA NA NA NA NA 100958301 MUC3A 57876 . GRCh38 chr7 100958304 100958304 + Nonsense_Mutation SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.6525G>A p.Trp2175Ter p.W2175* ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,stop_gained,p.Trp2175Ter,ENST00000379458,NM_005960.2;MUC3A,stop_gained,p.Trp2175Ter,ENST00000483366,;MUC3A,stop_gained,p.Trp114Ter,ENST00000414964,;,regulatory_region_variant,,ENSR00001129051,;,TF_binding_site_variant,,ENSM00050560023,;,TF_binding_site_variant,,ENSM00192033371,;,TF_binding_site_variant,,ENSM00522211283,;,TF_binding_site_variant,,ENSM00522657045,;,TF_binding_site_variant,,ENSM00000647917,;,TF_binding_site_variant,,ENSM00522934173,;,TF_binding_site_variant,,ENSM00012398415,;,TF_binding_site_variant,,ENSM00523401849,;,TF_binding_site_variant,,ENSM00523598543,;,TF_binding_site_variant,,ENSM00523659673,; A ENSG00000169894 ENST00000379458 Transcript stop_gained 6616/11248 6525/9972 2175/3323 W/* tgG/tgA 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 2/12 MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 SNV 5 NA NA NA . GGG . 83530.03 NA NA NA NA NA NA NA NA NA 100958304 MUC3A 57876 . GRCh38 chr7 100958305 100958306 + Nonsense_Mutation INS - - ACCCCCTCACACAGTACTCCCAGCTTCACTTCTTCGATGACCACCACCGAGACCCCCTCAAGCAGTACTCCCAGCTTCACTTCTTCGATCACCACCACCGAGACCACATCCCACAGTACTCCCAGCTTCACTTCTTCAATCAGCACCACTGAGACCACATCCCACAGTACTCCCAGCTTCACTTCTTCGATCACCATCACTGAGACCACCTCACACAGTACTCCCAGCTACACTACCTCAATCACCAGCACCAAGACCCCCTCACACAGTACTCCCAGCTACACTACCTCAATCACCACCACTGAGATCCCATCACACAGTACTCCCAGCTTCACTTCTTCAATCACCACCACCGAGACCACATCCCACAGTACTCCCAGCTTCACTTCTTCAATCA novel NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.6526_6527insACCCCCTCACACAGTACTCCCAGCTTCACTTCTTCGATGACCACCACCGAGACCCCCTCAAGCAGTACTCCCAGCTTCACTTCTTCGATCACCACCACCGAGACCACATCCCACAGTACTCCCAGCTTCACTTCTTCAATCAGCACCACTGAGACCACATCCCACAGTACTCCCAGCTTCACTTCTTCGATCACCATCACTGAGACCACCTCACACAGTACTCCCAGCTACACTACCTCAATCACCAGCACCAAGACCCCCTCACACAGTACTCCCAGCTACACTACCTCAATCACCACCACTGAGATCCCATCACACAGTACTCCCAGCTTCACTTCTTCAATCACCACCACCGAGACCACATCCCACAGTACTCCCAGCTTCACTTCTTCAATCA p.Gly2176AspfsTer51 p.G2176Dfs*51 ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,stop_gained,p.Gly2176AspfsTer51,ENST00000379458,NM_005960.2;MUC3A,stop_gained,p.Gly2176AspfsTer51,ENST00000483366,;MUC3A,stop_gained,p.Gly115AspfsTer51,ENST00000414964,;,regulatory_region_variant,,ENSR00001129051,;,TF_binding_site_variant,,ENSM00050560023,;,TF_binding_site_variant,,ENSM00192033371,;,TF_binding_site_variant,,ENSM00522657045,;,TF_binding_site_variant,,ENSM00000647917,; ACCCCCTCACACAGTACTCCCAGCTTCACTTCTTCGATGACCACCACCGAGACCCCCTCAAGCAGTACTCCCAGCTTCACTTCTTCGATCACCACCACCGAGACCACATCCCACAGTACTCCCAGCTTCACTTCTTCAATCAGCACCACTGAGACCACATCCCACAGTACTCCCAGCTTCACTTCTTCGATCACCATCACTGAGACCACCTCACACAGTACTCCCAGCTACACTACCTCAATCACCAGCACCAAGACCCCCTCACACAGTACTCCCAGCTACACTACCTCAATCACCACCACTGAGATCCCATCACACAGTACTCCCAGCTTCACTTCTTCAATCACCACCACCGAGACCACATCCCACAGTACTCCCAGCTTCACTTCTTCAATCA ENSG00000169894 ENST00000379458 Transcript stop_gained,frameshift_variant 6617-6618/11248 6526-6527/9972 2176/3323 G/DPLTQYSQLHFFDDHHRDPLKQYSQLHFFDHHHRDHIPQYSQLHFFNQHH*DHIPQYSQLHFFDHHH*DHLTQYSQLHYLNHQHQDPLTQYSQLHYLNHHH*DPITQYSQLHFFNHHHRDHIPQYSQLHFFNQX ggg/gACCCCCTCACACAGTACTCCCAGCTTCACTTCTTCGATGACCACCACCGAGACCCCCTCAAGCAGTACTCCCAGCTTCACTTCTTCGATCACCACCACCGAGACCACATCCCACAGTACTCCCAGCTTCACTTCTTCAATCAGCACCACTGAGACCACATCCCACAGTACTCCCAGCTTCACTTCTTCGATCACCATCACTGAGACCACCTCACACAGTACTCCCAGCTACACTACCTCAATCACCAGCACCAAGACCCCCTCACACAGTACTCCCAGCTACACTACCTCAATCACCACCACTGAGATCCCATCACACAGTACTCCCAGCTTCACTTCTTCAATCACCACCACCGAGACCACATCCCACAGTACTCCCAGCTTCACTTCTTCAATCAgg 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 2/12 MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 insertion 5 NA NA NA . GGG . 81051.1 NA NA NA NA NA NA NA NA NA 100958305 MUC3A 57876 . GRCh38 chr7 100959139 100959139 + Missense_Mutation SNP A A T rs75879657 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.7360A>T p.Thr2454Ser p.T2454S ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Thr2454Ser,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Thr2454Ser,ENST00000483366,;AC254629.1,downstream_gene_variant,,ENST00000610769,;AC254629.1,downstream_gene_variant,,ENST00000618276,;MUC3A,missense_variant,p.Thr393Ser,ENST00000414964,; T ENSG00000169894 ENST00000379458 Transcript missense_variant 7451/11248 7360/9972 2454/3323 T/S Aca/Tca rs75879657 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(0.15) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE NA SNV 5 NA NA NA . CAC . 82.6 NA NA NA NA NA NA NA NA NA 100959139 MUC3A 57876 . GRCh38 chr7 100959164 100959164 + Missense_Mutation SNP A A C rs74183623 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.7385A>C p.His2462Pro p.H2462P ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.His2462Pro,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.His2462Pro,ENST00000483366,;AC254629.1,downstream_gene_variant,,ENST00000610769,;AC254629.1,downstream_gene_variant,,ENST00000618276,;MUC3A,missense_variant,p.His401Pro,ENST00000414964,; C ENSG00000169894 ENST00000379458 Transcript missense_variant 7476/11248 7385/9972 2462/3323 H/P cAt/cCt rs74183623 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(0.48) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE NA SNV 5 NA NA NA . CAT . 877.6 NA NA NA NA NA NA NA NA NA 100959164 MUC3A 57876 . GRCh38 chr7 100959168 100959168 + Silent SNP T T C rs74892555 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.7389T>C p.Phe2463= p.F2463= ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,synonymous_variant,p.Phe2463=,ENST00000379458,NM_005960.2;MUC3A,synonymous_variant,p.Phe2463=,ENST00000483366,;AC254629.1,downstream_gene_variant,,ENST00000610769,;AC254629.1,downstream_gene_variant,,ENST00000618276,;MUC3A,synonymous_variant,p.Phe402=,ENST00000414964,; C ENSG00000169894 ENST00000379458 Transcript synonymous_variant 7480/11248 7389/9972 2463/3323 F ttT/ttC rs74892555 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA LOW NA SNV 5 NA NA NA . TTA . 857.6 NA NA NA NA NA NA NA NA NA 100959168 MUC3A 57876 . GRCh38 chr7 100959175 100959175 + Missense_Mutation SNP T T G rs77397007 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.7396T>G p.Ser2466Ala p.S2466A ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Ser2466Ala,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Ser2466Ala,ENST00000483366,;AC254629.1,downstream_gene_variant,,ENST00000610769,;AC254629.1,downstream_gene_variant,,ENST00000618276,;MUC3A,missense_variant,p.Ser405Ala,ENST00000414964,; G ENSG00000169894 ENST00000379458 Transcript missense_variant 7487/11248 7396/9972 2466/3323 S/A Tca/Gca rs77397007 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(1) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE NA SNV 5 NA NA NA . CTC . 1052.6 NA NA NA NA NA NA NA NA NA 100959175 MUC3A 57876 . GRCh38 chr7 100959185 100959185 + Missense_Mutation SNP C C G rs79779043 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.7406C>G p.Ala2469Gly p.A2469G ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Ala2469Gly,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Ala2469Gly,ENST00000483366,;AC254629.1,downstream_gene_variant,,ENST00000610769,;AC254629.1,downstream_gene_variant,,ENST00000618276,;MUC3A,missense_variant,p.Ala408Gly,ENST00000414964,; G ENSG00000169894 ENST00000379458 Transcript missense_variant 7497/11248 7406/9972 2469/3323 A/G gCg/gGg rs79779043 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(0.33) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE NA SNV 5 NA NA NA . GCG . 1232.6 NA NA NA NA NA NA NA NA NA 100959185 MUC3A 57876 . GRCh38 chr7 100959193 100959193 + Missense_Mutation SNP C C T rs76260977 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.7414C>T p.Pro2472Ser p.P2472S ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Pro2472Ser,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Pro2472Ser,ENST00000483366,;AC254629.1,downstream_gene_variant,,ENST00000610769,;AC254629.1,downstream_gene_variant,,ENST00000618276,;MUC3A,missense_variant,p.Pro411Ser,ENST00000414964,; T ENSG00000169894 ENST00000379458 Transcript missense_variant 7505/11248 7414/9972 2472/3323 P/S Ccc/Tcc rs76260977 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(1) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE NA SNV 5 NA NA NA . TCC . 1448.6 NA NA NA NA NA NA NA NA NA 100959193 MUC3A 57876 . GRCh38 chr7 100959202 100959202 + Missense_Mutation SNP G G T rs77979106 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.7423G>T p.Val2475Leu p.V2475L ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Val2475Leu,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Val2475Leu,ENST00000483366,;AC254629.1,downstream_gene_variant,,ENST00000610769,;AC254629.1,downstream_gene_variant,,ENST00000618276,;MUC3A,missense_variant,p.Val414Leu,ENST00000414964,; T ENSG00000169894 ENST00000379458 Transcript missense_variant 7514/11248 7423/9972 2475/3323 V/L Gta/Tta rs77979106,COSV60213448 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(0.34) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE NA SNV 5 NA 0,1 NA NA . TGT . 1581.6 NA NA NA NA NA NA NA NA NA 100959202 MUC3A 57876 . GRCh38 chr7 100959203 100959203 + Missense_Mutation SNP T T C rs77022449 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.7424T>C p.Val2475Ala p.V2475A ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Val2475Ala,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Val2475Ala,ENST00000483366,;AC254629.1,downstream_gene_variant,,ENST00000610769,;AC254629.1,downstream_gene_variant,,ENST00000618276,;MUC3A,missense_variant,p.Val414Ala,ENST00000414964,; C ENSG00000169894 ENST00000379458 Transcript missense_variant 7515/11248 7424/9972 2475/3323 V/A gTa/gCa rs77022449,COSV60212552 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(0.24) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE NA SNV 5 NA 0,1 NA NA . GTA . 1584.6 NA NA NA NA NA NA NA NA NA 100959203 MUC3A 57876 . GRCh38 chr7 100959205 100959205 + Missense_Mutation SNP A A T rs76311216 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.7426A>T p.Thr2476Ser p.T2476S ENST00000379458 2/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Thr2476Ser,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Thr2476Ser,ENST00000483366,;AC254629.1,downstream_gene_variant,,ENST00000610769,;AC254629.1,downstream_gene_variant,,ENST00000618276,;MUC3A,missense_variant,p.Thr415Ser,ENST00000414964,; T ENSG00000169894 ENST00000379458 Transcript missense_variant 7517/11248 7426/9972 2476/3323 T/S Acc/Tcc rs76311216,COSV60210405 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(0.26) unknown(0) 2/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE NA SNV 5 NA 0,1 NA NA . AAC . 1563.6 NA NA NA NA NA NA NA NA NA 100959205 MUC3A 57876 . GRCh38 chr7 100965345 100965345 + Missense_Mutation SNP C C A rs73714276 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.9446C>A p.Ala3149Glu p.A3149E ENST00000379458 7/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Ala3149Glu,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Ala3149Glu,ENST00000483366,;MUC12,upstream_gene_variant,,ENST00000379442,;MUC12,upstream_gene_variant,,ENST00000536621,NM_001164462.1;AC254629.1,non_coding_transcript_exon_variant,,ENST00000618276,;AC254629.1,non_coding_transcript_exon_variant,,ENST00000610769,;MUC3A,splice_region_variant,,ENST00000414964,;MUC3A,upstream_gene_variant,,ENST00000614399,;,regulatory_region_variant,,ENSR00000833761,; A ENSG00000169894 ENST00000379458 Transcript missense_variant,splice_region_variant 9537/11248 9446/9972 3149/3323 A/E gCa/gAa rs73714276 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(1) benign(0) 7/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE NA SNV 5 NA NA NA . GCA . 11367.6 NA NA NA NA NA NA NA NA NA 100965345 MUC3A 57876 . GRCh38 chr7 100965843 100965843 + Silent SNP G G A rs67377634 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.9588G>A p.Leu3196= p.L3196= ENST00000379458 8/12 NA NA NA NA NA NA MUC3A,synonymous_variant,p.Leu3196=,ENST00000379458,NM_005960.2;MUC3A,synonymous_variant,p.Leu3196=,ENST00000483366,;MUC12,upstream_gene_variant,,ENST00000379442,;MUC12,upstream_gene_variant,,ENST00000536621,NM_001164462.1;AC254629.1,splice_region_variant,,ENST00000618276,;AC254629.1,non_coding_transcript_exon_variant,,ENST00000610769,;MUC3A,3_prime_UTR_variant,,ENST00000414964,;MUC3A,upstream_gene_variant,,ENST00000614399,;,regulatory_region_variant,,ENSR00000833762,;,regulatory_region_variant,,ENSR00000833763,; A ENSG00000169894 ENST00000379458 Transcript synonymous_variant 9679/11248 9588/9972 3196/3323 L ctG/ctA rs67377634 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 8/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,SMART:SM00181 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW NA SNV 5 NA NA NA . TGG . 8758.6 NA NA NA NA NA NA NA NA NA 100965843 MUC3A 57876 . GRCh38 chr7 100965859 100965859 + Missense_Mutation SNP A A G rs73163797 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.9604A>G p.Thr3202Ala p.T3202A ENST00000379458 8/12 NA NA NA NA NA NA MUC3A,missense_variant,p.Thr3202Ala,ENST00000379458,NM_005960.2;MUC3A,missense_variant,p.Thr3202Ala,ENST00000483366,;MUC12,upstream_gene_variant,,ENST00000379442,;MUC12,upstream_gene_variant,,ENST00000536621,NM_001164462.1;AC254629.1,non_coding_transcript_exon_variant,,ENST00000610769,;AC254629.1,intron_variant,,ENST00000618276,;MUC3A,3_prime_UTR_variant,,ENST00000414964,;MUC3A,upstream_gene_variant,,ENST00000614399,;,regulatory_region_variant,,ENSR00000833762,;,regulatory_region_variant,,ENSR00000833763,;,TF_binding_site_variant,,ENSM00152806138,;,TF_binding_site_variant,,ENSM00522317169,;,TF_binding_site_variant,,ENSM00521885396,;,TF_binding_site_variant,,ENSM00000996881,;,TF_binding_site_variant,,ENSM00001042973,;,TF_binding_site_variant,,ENSM00524677996,;,TF_binding_site_variant,,ENSM00001088893,; G ENSG00000169894 ENST00000379458 Transcript missense_variant 9695/11248 9604/9972 3202/3323 T/A Acg/Gcg rs73163797 1 NA 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505.146 UPI000455B941 NM_005960.2 tolerated_low_confidence(1) benign(0) 8/12 PANTHER:PTHR24041,PANTHER:PTHR24041:SF22,SMART:SM00181 NA 1 1 NA 0.999 1 1 NA NA NA NA NA NA MODERATE NA SNV 5 NA NA NA . CAC . 8009.6 NA NA NA NA NA NA NA NA NA 100965859 MUC12 10071 . GRCh38 chr7 100993591 100993591 + Missense_Mutation SNP A A C rs1278320400 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3457A>C p.Thr1153Pro p.T1153P ENST00000379442 5/15 NA NA NA NA NA NA MUC12,missense_variant,p.Thr1153Pro,ENST00000379442,;MUC12,missense_variant,p.Thr1010Pro,ENST00000536621,NM_001164462.1; C ENSG00000205277 ENST00000379442 Transcript missense_variant 3457/16737 3457/16437 1153/5478 T/P Acc/Ccc rs1278320400 1 NA 1 MUC12 HGNC HGNC:7510 protein_coding YES ENSP00000368755 Q9UKN1.125 UPI0001722DB1 deleterious(0) possibly_damaging(0.517) 5/15 PANTHER:PTHR24041,PANTHER:PTHR24041:SF29,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . CAC . 31.6 1.103e-05 NA NA NA NA NA 2.955e-05 NA NA 100993591 MUC12 10071 . GRCh38 chr7 100993679 100993679 + Missense_Mutation SNP C C T rs768921497 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3545C>T p.Thr1182Ile p.T1182I ENST00000379442 5/15 NA NA NA NA NA NA MUC12,missense_variant,p.Thr1182Ile,ENST00000379442,;MUC12,missense_variant,p.Thr1039Ile,ENST00000536621,NM_001164462.1; T ENSG00000205277 ENST00000379442 Transcript missense_variant 3545/16737 3545/16437 1182/5478 T/I aCt/aTt rs768921497 1 NA 1 MUC12 HGNC HGNC:7510 protein_coding YES ENSP00000368755 Q9UKN1.125 UPI0001722DB1 tolerated(0.06) possibly_damaging(0.517) 5/15 PANTHER:PTHR24041,PANTHER:PTHR24041:SF29,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . ACT . 373.6 4.347e-05 NA 9.866e-05 NA NA NA 5.89e-05 NA NA 100993679 MUC12 10071 . GRCh38 chr7 100995033 100995033 + Silent SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4899G>A p.Glu1633= p.E1633= ENST00000379442 5/15 NA NA NA NA NA NA MUC12,synonymous_variant,p.Glu1633=,ENST00000379442,;MUC12,synonymous_variant,p.Glu1490=,ENST00000536621,NM_001164462.1; A ENSG00000205277 ENST00000379442 Transcript synonymous_variant 4899/16737 4899/16437 1633/5478 E gaG/gaA 1 NA 1 MUC12 HGNC HGNC:7510 protein_coding YES ENSP00000368755 Q9UKN1.125 UPI0001722DB1 5/15 PANTHER:PTHR24041,PANTHER:PTHR24041:SF29,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . AGG . 218.6 NA NA NA NA NA NA NA NA NA 100995033 MUC12 10071 . GRCh38 chr7 100996840 100996840 + Missense_Mutation SNP A A C rs200916049 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.6706A>C p.Thr2236Pro p.T2236P ENST00000379442 5/15 NA NA NA NA NA NA MUC12,missense_variant,p.Thr2236Pro,ENST00000379442,;MUC12,missense_variant,p.Thr2093Pro,ENST00000536621,NM_001164462.1; C ENSG00000205277 ENST00000379442 Transcript missense_variant 6706/16737 6706/16437 2236/5478 T/P Acc/Ccc rs200916049,COSV65187330 1 NA 1 MUC12 HGNC HGNC:7510 protein_coding YES ENSP00000368755 Q9UKN1.125 UPI0001722DB1 deleterious(0) possibly_damaging(0.517) 5/15 PANTHER:PTHR24041,PANTHER:PTHR24041:SF29,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 5 NA 0,1 NA NA . CAC . 168.6 9.753e-05 NA 0.0002955 NA NA NA 0.000109 NA NA 100996840 RELN 5649 . GRCh38 chr7 103661415 103661415 + Missense_Mutation SNP T T G novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1402A>C p.Thr468Pro p.T468P ENST00000428762 12/65 NA NA NA NA NA NA RELN,missense_variant,p.Thr468Pro,ENST00000428762,NM_005045.4;RELN,missense_variant,p.Thr468Pro,ENST00000424685,;RELN,missense_variant,p.Thr468Pro,ENST00000343529,NM_173054.2;,regulatory_region_variant,,ENSR00000834519,; G ENSG00000189056 ENST00000428762 Transcript missense_variant 1704/11708 1402/10383 468/3460 T/P Act/Cct 1 NA -1 RELN HGNC HGNC:9957 protein_coding YES CCDS47680.1 ENSP00000392423 P78509.189 UPI00001678BC NM_005045.4 deleterious(0.01) probably_damaging(0.979) 12/65 Gene3D:2.60.120.260,PANTHER:PTHR11841 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA 1 . GTG . 141.6 NA NA NA NA NA NA NA NA NA 103661415 PIK3CG 5294 . GRCh38 chr7 106867649 106867649 + Missense_Mutation SNP G G A rs1212203463 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.88G>A p.Ala30Thr p.A30T ENST00000496166 2/11 NA NA NA NA NA NA PIK3CG,missense_variant,p.Ala30Thr,ENST00000496166,NM_001282426.2,NM_001282427.2;PIK3CG,missense_variant,p.Ala30Thr,ENST00000359195,NM_002649.3;PIK3CG,missense_variant,p.Ala30Thr,ENST00000440650,;PIK3CG,intron_variant,,ENST00000473541,; A ENSG00000105851 ENST00000496166 Transcript missense_variant 245/7059 88/3309 30/1102 A/T Gcc/Acc rs1212203463 1 NA 1 PIK3CG HGNC HGNC:8978 protein_coding YES CCDS5739.1 ENSP00000419260 P48736.204 A0A024R720.59 UPI00000746B8 NM_001282426.2,NM_001282427.2 tolerated(0.26) benign(0) 2/11 PANTHER:PTHR10048,PANTHER:PTHR10048:SF34 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . GGC . 3781.6 4.019e-06 NA NA NA NA NA 8.932e-06 NA NA 106867649 SLC26A4 5172 . GRCh38 chr7 107702052 107702052 + Missense_Mutation SNP C C T rs397516426 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2029C>T p.Arg677Trp p.R677W ENST00000644269 17/21 NA NA NA NA NA NA SLC26A4,missense_variant,p.Arg677Trp,ENST00000644269,NM_000441.2;SLC26A4,non_coding_transcript_exon_variant,,ENST00000492030,;SLC26A4,downstream_gene_variant,,ENST00000477350,;SLC26A4,downstream_gene_variant,,ENST00000480841,;SLC26A4,missense_variant,p.Arg248Trp,ENST00000644846,; T ENSG00000091137 ENST00000644269 Transcript missense_variant 2060/4737 2029/2343 677/780 R/W Cgg/Tgg rs397516426,COSV55914130 1 NA 1 SLC26A4 HGNC HGNC:8818 protein_coding YES CCDS5746.1 ENSP00000494017 O43511.194 UPI00001315A4 NM_000441.2 deleterious(0) probably_damaging(0.967) 17/21 PROSITE_profiles:PS50801,CDD:cd07042,PANTHER:PTHR11814:SF33,PANTHER:PTHR11814,TIGRFAM:TIGR00815,Pfam:PF01740,Superfamily:SSF52091 NA NA NA NA NA NA NA NA NA uncertain_significance 0,1 24033266 NA NA NA NA MODERATE 1 SNV NA NA 1,1 NA 1 . GCG . 997.6 3.986e-05 0.0001846 NA NA 0.0001089 NA 2.646e-05 NA 6.54e-05 107702052 NRCAM 4897 . GRCh38 chr7 108207647 108207647 + Nonsense_Mutation SNP C C T NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1088G>A p.Trp363Ter p.W363* ENST00000379028 13/33 NA NA NA NA NA NA NRCAM,stop_gained,p.Trp363Ter,ENST00000379028,NM_001371124.1,NM_001371119.1,NM_001371164.1,NM_001371143.1,NM_001371146.1,NM_001371172.1,NM_001371138.1,NM_001371169.1,NM_001037132.4,NM_001371156.1,NM_001371126.1,NM_001371131.1;NRCAM,stop_gained,p.Trp363Ter,ENST00000413765,NM_001193582.1,NM_001371123.1,NM_001371127.1,NM_001371161.1,NM_001371173.1,NM_001371149.1,NM_001371144.1,NM_001371153.1,NM_001371168.1,NM_001371128.1;NRCAM,stop_gained,p.Trp357Ter,ENST00000351718,NM_005010.4,NM_001371151.1,NM_001371148.1,NM_001371170.1,NM_001371137.1,NM_001371134.1,NM_001371175.1,NM_001371157.1,NM_001371136.1,NM_001371152.1,NM_001371160.1,NM_001371174.1,NM_001371150.1,NM_001371159.1,NM_001371133.1,NM_001371171.1,NM_001371130.1,NM_001371180.1,NM_001371178.1,NM_001371176.1,NM_001371179.1,NM_001371182.1;NRCAM,stop_gained,p.Trp344Ter,ENST00000379024,NM_001193584.1,NM_001193583.1,NM_001371122.1,NM_001371125.1,NM_001371147.1,NM_001371142.1,NM_001371154.1,NM_001371140.1,NM_001371129.1,NM_001371158.1,NM_001371145.1,NM_001371135.1,NM_001371141.1,NM_001371162.1,NM_001371139.1,NM_001371163.1,NM_001371165.1,NM_001371155.1,NM_001371166.1,NM_001371132.1,NM_001371167.1,NM_001371177.1,NM_001371181.1;NRCAM,stop_gained,p.Trp358Ter,ENST00000379022,;NRCAM,stop_gained,p.Trp357Ter,ENST00000613830,;NRCAM,stop_gained,p.Trp357Ter,ENST00000417701,;NRCAM,non_coding_transcript_exon_variant,,ENST00000489800,; T ENSG00000091129 ENST00000379028 Transcript stop_gained 1613/6701 1088/3915 363/1304 W/* tGg/tAg COSV100695676 1 NA -1 NRCAM HGNC HGNC:7994 protein_coding YES CCDS47686.1 ENSP00000368314 Q92823.189 UPI00005E2661 NM_001371124.1,NM_001371119.1,NM_001371164.1,NM_001371143.1,NM_001371146.1,NM_001371172.1,NM_001371138.1,NM_001371169.1,NM_001037132.4,NM_001371156.1,NM_001371126.1,NM_001371131.1 13/33 Gene3D:2.60.40.10,PROSITE_profiles:PS50835,PANTHER:PTHR10075,PANTHER:PTHR10075:SF44,Superfamily:SSF48726,Superfamily:SSF48726 NA NA NA NA NA NA NA NA NA 1 NA NA NA NA HIGH 1 SNV 5 NA 1 NA NA . CCA . 2500.6 NA NA NA NA NA NA NA NA NA 108207647 TFEC 22797 . GRCh38 chr7 115950874 115950874 + Missense_Mutation SNP G G A rs202236667 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.515C>T p.Pro172Leu p.P172L ENST00000265440 6/8 NA NA NA NA NA NA TFEC,missense_variant,p.Pro172Leu,ENST00000265440,NM_012252.4;TFEC,missense_variant,p.Pro143Leu,ENST00000320239,NM_001018058.3;TFEC,missense_variant,p.Pro105Leu,ENST00000457268,NM_001244583.1;TFEC,missense_variant,p.Pro143Leu,ENST00000393485,;TFEC,missense_variant,p.Pro262Leu,ENST00000484212,;TFEC,splice_region_variant,,ENST00000462828,; A ENSG00000105967 ENST00000265440 Transcript missense_variant,splice_region_variant 718/6646 515/1044 172/347 P/L cCt/cTt rs202236667,COSV55401677 1 NA -1 TFEC HGNC HGNC:11754 protein_coding YES CCDS5762.1 ENSP00000265440 O14948.157 UPI000006CC81 NM_012252.4 tolerated(0.26) possibly_damaging(0.838) 6/8 PROSITE_profiles:PS50888,CDD:cd00083,PANTHER:PTHR45776:SF1,PANTHER:PTHR45776,Gene3D:4.10.280.10,Pfam:PF00010,SMART:SM00353,Superfamily:SSF47459 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 1 NA 0,1 NA NA . CGG . 160.6 2.888e-05 6.354e-05 3.07e-05 NA NA NA 3.608e-05 NA 3.511e-05 115950874 IMPDH1 3614 . GRCh38 chr7 128396630 128396630 + Missense_Mutation SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1231G>A p.Gly411Ser p.G411S ENST00000338791 12/17 NA NA NA NA NA NA IMPDH1,missense_variant,p.Gly325Ser,ENST00000626419,;IMPDH1,missense_variant,p.Gly411Ser,ENST00000338791,NM_000883.4;IMPDH1,missense_variant,p.Gly401Ser,ENST00000354269,NM_001102605.2;IMPDH1,missense_variant,p.Gly375Ser,ENST00000348127,NM_001304521.2,NM_183243.3;IMPDH1,missense_variant,p.Gly378Ser,ENST00000419067,NM_001142576.2;IMPDH1,missense_variant,p.Gly301Ser,ENST00000496200,NM_001142575.2;IMPDH1,missense_variant,p.Gly325Ser,ENST00000470772,NM_001142573.2;IMPDH1,missense_variant,p.Gly321Ser,ENST00000480861,NM_001142574.2;IMPDH1,missense_variant,p.Gly289Ser,ENST00000648462,;IMPDH1,downstream_gene_variant,,ENST00000489263,;IMPDH1,downstream_gene_variant,,ENST00000497868,;IMPDH1,3_prime_UTR_variant,,ENST00000484496,;IMPDH1,3_prime_UTR_variant,,ENST00000469328,;IMPDH1,upstream_gene_variant,,ENST00000460045,;IMPDH1,downstream_gene_variant,,ENST00000468842,;IMPDH1,downstream_gene_variant,,ENST00000473463,;IMPDH1,downstream_gene_variant,,ENST00000491376,;IMPDH1,downstream_gene_variant,,ENST00000496487,; T ENSG00000106348 ENST00000338791 Transcript missense_variant 1312/2611 1231/1800 411/599 G/S Ggc/Agc 1 NA -1 IMPDH1 HGNC HGNC:6052 protein_coding YES CCDS34749.1 ENSP00000345096 P20839.224 UPI00001BDC74 NM_000883.4 deleterious(0) probably_damaging(0.999) 12/17 HAMAP:MF_01964,CDD:cd00381,PANTHER:PTHR11911:SF74,PANTHER:PTHR11911,PROSITE_patterns:PS00487,Pfam:PF00478,Gene3D:3.20.20.70,TIGRFAM:TIGR01302,SMART:SM01240,Superfamily:SSF51412 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 2 NA NA 1 . CCC . 503.6 NA NA NA NA NA NA NA NA NA 128396630 METTL2B 55798 . GRCh38 chr7 128479325 128479325 + Missense_Mutation SNP T T C rs2896399 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.370T>C p.Cys124Arg p.C124R ENST00000262432 3/9 NA NA NA NA NA NA METTL2B,missense_variant,p.Cys124Arg,ENST00000262432,NM_018396.3;METTL2B,missense_variant,p.Cys59Arg,ENST00000480046,;METTL2B,upstream_gene_variant,,ENST00000419443,;AC010655.4,non_coding_transcript_exon_variant,,ENST00000462662,;Metazoa_SRP,downstream_gene_variant,,ENST00000613842,;METTL2B,upstream_gene_variant,,ENST00000473488,;METTL2B,3_prime_UTR_variant,,ENST00000497665,;METTL2B,non_coding_transcript_exon_variant,,ENST00000482555,; C ENSG00000165055 ENST00000262432 Transcript missense_variant 388/5841 370/1137 124/378 C/R Tgt/Cgt rs2896399,COSV52308625 1 NA 1 METTL2B HGNC HGNC:18272 protein_coding YES CCDS5803.2 ENSP00000262432 Q6P1Q9.128 UPI000020FA36 NM_018396.3 tolerated(0.54) benign(0) 3/9 PANTHER:PTHR22809,PANTHER:PTHR22809:SF4,PIRSF:PIRSF037755,Superfamily:SSF53335 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 1 NA 0,1 NA NA . ATG . 1189.6 3.992e-06 NA NA NA NA NA 8.831e-06 NA NA 128479325 METTL2B 55798 . GRCh38 chr7 128479326 128479326 + Missense_Mutation SNP G G C rs1053120 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.371G>C p.Cys124Ser p.C124S ENST00000262432 3/9 NA NA NA NA NA NA METTL2B,missense_variant,p.Cys124Ser,ENST00000262432,NM_018396.3;METTL2B,missense_variant,p.Cys59Ser,ENST00000480046,;METTL2B,upstream_gene_variant,,ENST00000419443,;AC010655.4,non_coding_transcript_exon_variant,,ENST00000462662,;Metazoa_SRP,downstream_gene_variant,,ENST00000613842,;METTL2B,upstream_gene_variant,,ENST00000473488,;METTL2B,3_prime_UTR_variant,,ENST00000497665,;METTL2B,non_coding_transcript_exon_variant,,ENST00000482555,; C ENSG00000165055 ENST00000262432 Transcript missense_variant 389/5841 371/1137 124/378 C/S tGt/tCt rs1053120,COSV52307729 1 NA 1 METTL2B HGNC HGNC:18272 protein_coding YES CCDS5803.2 ENSP00000262432 Q6P1Q9.128 UPI000020FA36 NM_018396.3 tolerated(0.81) benign(0) 3/9 PANTHER:PTHR22809,PANTHER:PTHR22809:SF4,PIRSF:PIRSF037755,Superfamily:SSF53335 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 1 NA 0,1 NA NA . TGT . 1189.6 4e-06 NA NA NA NA NA 8.854e-06 NA NA 128479326 TNPO3 23534 . GRCh38 chr7 128970205 128970205 + Frame_Shift_Del DEL G G - novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2643del p.Tyr882IlefsTer25 p.Y882Ifs*25 ENST00000627585 20/23 NA NA NA NA NA NA TNPO3,frameshift_variant,p.Tyr882IlefsTer25,ENST00000627585,NM_001382216.1;TNPO3,frameshift_variant,p.Tyr848IlefsTer25,ENST00000265388,NM_001382221.1,NM_001382222.1,NM_001382219.1,NM_001382220.1,NM_001382218.1,NM_012470.4,NM_001382217.1;TNPO3,frameshift_variant,p.Tyr782IlefsTer25,ENST00000482320,;TNPO3,frameshift_variant,p.Tyr784IlefsTer25,ENST00000471234,NM_001382223.1,NM_001191028.3;TNPO3,frameshift_variant,p.Tyr882IlefsTer25,ENST00000471166,;RN7SL306P,upstream_gene_variant,,ENST00000492941,; - ENSG00000064419 ENST00000627585 Transcript frameshift_variant 3046/4514 2643/2874 881/957 P/X ccC/cc 1 NA -1 TNPO3 HGNC HGNC:17103 protein_coding YES ENSP00000487231 C9J7E5.94 UPI00015E04F7 NM_001382216.1 20/23 PANTHER:PTHR12363,Superfamily:SSF48371 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 2 NA NA 1 . TAGG . 2942.6 NA NA NA NA NA NA NA NA NA 128970204 SMO 6608 . GRCh38 chr7 129205388 129205388 + Silent SNP G G A rs371084806 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.723G>A p.Thr241= p.T241= ENST00000249373 3/12 NA NA NA NA NA NA SMO,synonymous_variant,p.Thr241=,ENST00000249373,NM_005631.5;AC011005.4,downstream_gene_variant,,ENST00000466717,;SMO,3_prime_UTR_variant,,ENST00000655644,;SMO,upstream_gene_variant,,ENST00000462420,;SMO,upstream_gene_variant,,ENST00000495998,; A ENSG00000128602 ENST00000249373 Transcript synonymous_variant 1242/3977 723/2364 241/787 T acG/acA rs371084806 1 NA 1 SMO HGNC HGNC:11119 protein_coding YES CCDS5811.1 ENSP00000249373 Q99835.198 UPI0000050447 NM_005631.5 3/12 PDB-ENSP_mappings:4jkv.A,PDB-ENSP_mappings:4jkv.B,PDB-ENSP_mappings:4n4w.A,PDB-ENSP_mappings:4o9r.A,PDB-ENSP_mappings:4qim.A,PDB-ENSP_mappings:4qin.A,PDB-ENSP_mappings:5l7d.A,PDB-ENSP_mappings:5l7d.B,PDB-ENSP_mappings:5l7i.A,PDB-ENSP_mappings:5l7i.B,PDB-ENSP_mappings:5v56.A,PDB-ENSP_mappings:5v56.B,PDB-ENSP_mappings:5v57.A,PDB-ENSP_mappings:5v57.B,PDB-ENSP_mappings:6ot0.R,Transmembrane_helices:TMhelix,PROSITE_profiles:PS50261,CDD:cd15030,PANTHER:PTHR11309,PANTHER:PTHR11309:SF35,Pfam:PF01534,Gene3D:1.20.1070.10,SMART:SM01330,Prints:PR00489 NA NA NA NA NA NA NA 0.0002271 NA uncertain_significance NA NA NA NA LOW 1 SNV 1 NA 1 NA 1 . CGG . 4579.6 NA NA NA NA NA NA NA NA NA 129205388 COPG2 26958 . GRCh38 chr7 130550642 130550642 + Silent SNP C C T rs1037353875 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1656G>A p.Thr552= p.T552= ENST00000425248 17/24 NA NA NA NA NA NA COPG2,synonymous_variant,p.Thr552=,ENST00000425248,NM_012133.6;COPG2,synonymous_variant,p.Thr552=,ENST00000330992,NM_001290033.1;AUXG01000058.1,downstream_gene_variant,,ENST00000651844,;COPG2,non_coding_transcript_exon_variant,,ENST00000617523,; T ENSG00000158623 ENST00000425248 Transcript synonymous_variant 1736/3134 1656/2616 552/871 T acG/acA rs1037353875 1 NA -1 COPG2 HGNC HGNC:2237 protein_coding YES CCDS75662.1 ENSP00000402346 Q9UBF2.160 A0A140VK12.22 UPI0000000960 NM_012133.6 17/24 PANTHER:PTHR10261,PANTHER:PTHR10261:SF4,PIRSF:PIRSF037093 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . CCG . 1727.6 NA NA NA NA NA NA NA NA NA 130550642 AKR1B15 441282 . GRCh38 chr7 134575844 134575844 + Silent SNP G G A rs706158 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.660G>A p.Thr220= p.T220= ENST00000457545 8/12 NA NA NA NA NA NA AKR1B15,synonymous_variant,p.Thr220=,ENST00000457545,NM_001080538.3,NM_001367820.1;AKR1B15,synonymous_variant,p.Thr192=,ENST00000652743,NM_001367821.1;AKR1B15,synonymous_variant,p.Thr220=,ENST00000423958,; A ENSG00000227471 ENST00000457545 Transcript synonymous_variant 946/1641 660/1035 220/344 T acG/acA rs706158 1 NA 1 AKR1B15 HGNC HGNC:37281 protein_coding YES CCDS47715.2 ENSP00000389289 C9JRZ8.86 UPI00004193E1 NM_001080538.3,NM_001367820.1 8/12 CDD:cd06660,PANTHER:PTHR11732:SF197,PANTHER:PTHR11732,Pfam:PF00248,Gene3D:3.20.20.100,PIRSF:PIRSF000097,Superfamily:SSF51430,Prints:PR00069 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . CGC . 338.6 0.0001116 6.152e-05 0.0002025 NA 0.0002727 0.0002314 3.53e-05 NA 0.000196 134575844 DGKI 9162 . GRCh38 chr7 137545944 137545944 + Silent SNP A A G novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2166T>C p.Thr722= p.T722= ENST00000424189 21/34 NA NA NA NA NA NA DGKI,synonymous_variant,p.Thr722=,ENST00000424189,;DGKI,intron_variant,,ENST00000288490,NM_004717.3;DGKI,intron_variant,,ENST00000446122,NM_001321708.1;DGKI,intron_variant,,ENST00000453654,NM_001321710.2,NM_001321709.1;DGKI,intron_variant,,ENST00000614521,;DGKI,intron_variant,,ENST00000460662,;,regulatory_region_variant,,ENSR00001132092,; G ENSG00000157680 ENST00000424189 Transcript synonymous_variant 2396/4163 2166/3237 722/1078 T acT/acC 1 NA -1 DGKI HGNC HGNC:2855 protein_coding YES ENSP00000396078 E7EWQ4.78 UPI0002B83345 21/34 PANTHER:PTHR11255,PANTHER:PTHR11255:SF92 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . CAG . 1007.6 NA NA NA NA NA NA NA NA NA 137545944 KIAA1549 57670 . GRCh38 chr7 138871280 138871281 + Frame_Shift_Ins INS - - G rs752867430 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4427dup p.Glu1477GlyfsTer3 p.E1477Gfs*3 ENST00000422774 13/20 NA NA NA NA NA NA KIAA1549,frameshift_variant,p.Glu1477GlyfsTer3,ENST00000422774,NM_001164665.2;KIAA1549,frameshift_variant,p.Glu1477GlyfsTer3,ENST00000440172,NM_020910.3;,regulatory_region_variant,,ENSR00000841338,;,TF_binding_site_variant,,ENSM00493493476,;,TF_binding_site_variant,,ENSM00494954308,;,TF_binding_site_variant,,ENSM00524658505,;,TF_binding_site_variant,,ENSM00494467806,; G ENSG00000122778 ENST00000422774 Transcript frameshift_variant 4547-4548/12498 4427-4428/5853 1476/1950 P/PX ccg/ccCg rs752867430 1 NA -1 KIAA1549 HGNC HGNC:22219 protein_coding YES CCDS56513.1 ENSP00000416040 Q9HCM3.123 UPI0001837EBD NM_001164665.2 13/20 PANTHER:PTHR21590:SF4,PANTHER:PTHR21590,Pfam:PF12877 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 insertion 1 NA NA 1 . CCG . 4857.64 8.207e-06 NA NA NA 5.627e-05 NA 9.041e-06 NA NA 138871280 ZC3HAV1 56829 . GRCh38 chr7 139073881 139073881 + Missense_Mutation SNP C C T rs992903305 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2213G>A p.Gly738Asp p.G738D ENST00000464606 7/13 NA NA NA NA NA NA ZC3HAV1,missense_variant,p.Gly616Asp,ENST00000242351,NM_020119.4;ZC3HAV1,missense_variant,p.Gly738Asp,ENST00000464606,NM_001363491.2;ZC3HAV1,missense_variant,p.Gly616Asp,ENST00000471652,NM_024625.4;ZC3HAV1,missense_variant,p.Gly181Asp,ENST00000460845,;,regulatory_region_variant,,ENSR00001132240,; T ENSG00000105939 ENST00000464606 Transcript missense_variant 2236/4776 2213/3075 738/1024 G/D gGc/gAc rs992903305 1 NA -1 ZC3HAV1 HGNC HGNC:23721 protein_coding YES ENSP00000418385 C9J6P4.88 UPI0001B7924D NM_001363491.2 tolerated(1) benign(0) 7/13 PROSITE_profiles:PS50918,PANTHER:PTHR45740,PANTHER:PTHR45740:SF6,Pfam:PF02825,Gene3D:3.30.720.50,Superfamily:SSF117839 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . GCC . 2573.6 NA NA NA NA NA NA NA NA NA 139073881 TBXAS1 6916 . GRCh38 chr7 139961978 139961978 + Silent SNP C C T rs781191549 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1020C>T p.Gly340= p.G340= ENST00000416849 14/18 NA NA NA NA NA NA TBXAS1,synonymous_variant,p.Gly340=,ENST00000416849,;TBXAS1,synonymous_variant,p.Gly294=,ENST00000650822,;TBXAS1,synonymous_variant,p.Gly293=,ENST00000336425,NM_001130966.4;TBXAS1,synonymous_variant,p.Gly226=,ENST00000425687,NM_001166254.3;TBXAS1,synonymous_variant,p.Gly339=,ENST00000458722,NM_001166253.3;TBXAS1,synonymous_variant,p.Gly293=,ENST00000448866,NM_001314028.3,NM_001366537.2,NM_001061.7;TBXAS1,synonymous_variant,p.Gly294=,ENST00000652056,;TBXAS1,synonymous_variant,p.Gly293=,ENST00000411653,NM_030984.5;TBXAS1,non_coding_transcript_exon_variant,,ENST00000462275,;TBXAS1,3_prime_UTR_variant,,ENST00000422328,;TBXAS1,non_coding_transcript_exon_variant,,ENST00000469630,;TBXAS1,non_coding_transcript_exon_variant,,ENST00000494876,; T ENSG00000059377 ENST00000416849 Transcript synonymous_variant 1558/2505 1020/1743 340/580 G ggC/ggT rs781191549,COSV54956784 1 NA 1 TBXAS1 HGNC HGNC:11609 protein_coding YES CCDS55174.1 ENSP00000389414 A0A0C4DH47.41 UPI00017A722C 14/18 Gene3D:1.10.630.10,Pfam:PF00067,PANTHER:PTHR24301,PANTHER:PTHR24301:SF2,Superfamily:SSF48264 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA LOW 1 SNV 5 NA 0,1 NA 1 . GCG . 2696.6 1.601e-05 NA 2.891e-05 NA NA NA 1.784e-05 NA 3.266e-05 139961978 ADCK2 90956 . GRCh38 chr7 140687088 140687088 + Silent SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1404G>A p.Gln468= p.Q468= ENST00000072869 5/8 NA NA NA NA NA NA ADCK2,synonymous_variant,p.Gln468=,ENST00000072869,NM_052853.4;ADCK2,synonymous_variant,p.Gln468=,ENST00000476491,;ADCK2,synonymous_variant,p.Gln306=,ENST00000483369,;ADCK2,synonymous_variant,p.Gln108=,ENST00000473512,;NDUFB2,upstream_gene_variant,,ENST00000482954,;ADCK2,non_coding_transcript_exon_variant,,ENST00000498423,; A ENSG00000133597 ENST00000072869 Transcript synonymous_variant 1790/2574 1404/1881 468/626 Q caG/caA 1 NA 1 ADCK2 HGNC HGNC:19039 protein_coding YES CCDS5861.1 ENSP00000072869 Q7Z695.127 A4D1T6.100 UPI000003C962 NM_052853.4 5/8 PANTHER:PTHR45890,PANTHER:PTHR45890:SF1,CDD:cd13971,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . AGC . 1591.6 NA NA NA NA NA NA NA NA NA 140687088 TRBV3-1 0 . GRCh38 chr7 142308812 142308813 + Frame_Shift_Del DEL CG CG - rs757105470 NA HCI-EC-23 NORMAL CG CG NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.108_109del p.Asn36LysfsTer5 p.N36Kfs*5 ENST00000390387 2/2 NA NA NA NA NA NA TRBV3-1,frameshift_variant,p.Asn36LysfsTer5,ENST00000390387,;TRBV4-1,upstream_gene_variant,,ENST00000390357,;,regulatory_region_variant,,ENSR00000842149,; - ENSG00000237702 ENST00000390387 Transcript frameshift_variant 155-156/391 108-109/344 36-37/114 ND/KX aaCGac/aaac rs757105470 1 NA 1 TRBV3-1 HGNC HGNC:12212 TR_V_gene YES ENSP00000374910 A0A576.79 UPI0000115AAE 2/2 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion NA NA NA NA . AACGA . 74.6 1.717e-05 6.712e-05 NA NA NA NA 2.769e-05 NA NA 142308811 TRBV3-1 0 . GRCh38 chr7 142308815 142308815 + Missense_Mutation SNP C C A rs755222580 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.111C>A p.Asp37Glu p.D37E ENST00000390387 2/2 NA NA NA NA NA NA TRBV3-1,missense_variant,p.Asp37Glu,ENST00000390387,;TRBV4-1,upstream_gene_variant,,ENST00000390357,;,regulatory_region_variant,,ENSR00000842149,; A ENSG00000237702 ENST00000390387 Transcript missense_variant 158/391 111/344 37/114 D/E gaC/gaA rs755222580 1 NA 1 TRBV3-1 HGNC HGNC:12212 TR_V_gene YES ENSP00000374910 A0A576.79 UPI0000115AAE tolerated(0.3) benign(0) 2/2 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV NA NA NA NA . ACA . 74.6 1.735e-05 6.826e-05 NA NA NA NA 2.809e-05 NA NA 142308815 TRBV3-1 0 . GRCh38 chr7 142308816 142308817 + Frame_Shift_Ins INS - - GG rs781231077 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.112_113insGG p.Lys38ArgfsTer26 p.K38Rfs*26 ENST00000390387 2/2 NA NA NA NA NA NA TRBV3-1,frameshift_variant,p.Lys38ArgfsTer26,ENST00000390387,;TRBV4-1,upstream_gene_variant,,ENST00000390357,;,regulatory_region_variant,,ENSR00000842149,; GG ENSG00000237702 ENST00000390387 Transcript frameshift_variant 159-160/391 112-113/344 38/114 K/RX aag/aGGag rs781231077 1 NA 1 TRBV3-1 HGNC HGNC:12212 TR_V_gene YES ENSP00000374910 A0A576.79 UPI0000115AAE 2/2 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 insertion NA NA NA NA . CAA . 83.64 1.73e-05 6.807e-05 NA NA NA NA 2.798e-05 NA NA 142308816 TRBV3-1 0 . GRCh38 chr7 142308821 142308821 + Silent SNP C C T rs748166721 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.117C>T p.Ser39= p.S39= ENST00000390387 2/2 NA NA NA NA NA NA TRBV3-1,synonymous_variant,p.Ser39=,ENST00000390387,;TRBV4-1,upstream_gene_variant,,ENST00000390357,;,regulatory_region_variant,,ENSR00000842149,; T ENSG00000237702 ENST00000390387 Transcript synonymous_variant 164/391 117/344 39/114 S tcC/tcT rs748166721 1 NA 1 TRBV3-1 HGNC HGNC:12212 TR_V_gene YES ENSP00000374910 A0A576.79 UPI0000115AAE 2/2 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV NA NA NA NA . CCA . 92.6 2.163e-05 6.806e-05 NA 0.000102 NA NA 2.799e-05 NA NA 142308821 TRBV3-1 0 . GRCh38 chr7 142308822 142308822 + Missense_Mutation SNP A A C rs772136756 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.118A>C p.Ile40Leu p.I40L ENST00000390387 2/2 NA NA NA NA NA NA TRBV3-1,missense_variant,p.Ile40Leu,ENST00000390387,;TRBV4-1,upstream_gene_variant,,ENST00000390357,;,regulatory_region_variant,,ENSR00000842149,; C ENSG00000237702 ENST00000390387 Transcript missense_variant 165/391 118/344 40/114 I/L Att/Ctt rs772136756 1 NA 1 TRBV3-1 HGNC HGNC:12212 TR_V_gene YES ENSP00000374910 A0A576.79 UPI0000115AAE tolerated(1) benign(0) 2/2 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV NA NA NA NA . CAT . 92.6 2.597e-05 6.815e-05 NA 0.000102 NA NA 3.734e-05 NA NA 142308822 TRBV3-1 0 . GRCh38 chr7 142308830 142308830 + Nonsense_Mutation SNP T T A rs370721246 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.126T>A p.Cys42Ter p.C42* ENST00000390387 2/2 NA NA NA NA NA NA TRBV3-1,stop_gained,p.Cys42Ter,ENST00000390387,;TRBV4-1,upstream_gene_variant,,ENST00000390357,;,regulatory_region_variant,,ENSR00000842149,; A ENSG00000237702 ENST00000390387 Transcript stop_gained 173/391 126/344 42/114 C/* tgT/tgA rs370721246 1 NA 1 TRBV3-1 HGNC HGNC:12212 TR_V_gene YES ENSP00000374910 A0A576.79 UPI0000115AAE 2/2 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 SNV NA NA NA NA . GTG . 221.6 2.598e-05 6.811e-05 NA 0.000102 NA NA 3.735e-05 NA NA 142308830 TRBV7-2 0 . GRCh38 chr7 142353265 142353265 + Missense_Mutation SNP C C T rs1434131863 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.254C>T p.Ser85Phe p.S85F ENST00000634605 2/2 NA NA NA NA NA NA TRBV7-2,missense_variant,p.Ser85Phe,ENST00000634605,;TRBV6-2,downstream_gene_variant,,ENST00000634383,;,regulatory_region_variant,,ENSR00000842163,; T ENSG00000282939 ENST00000634605 Transcript missense_variant 301/394 254/347 85/115 S/F tCt/tTt rs1434131863 1 NA 1 TRBV7-2 HGNC HGNC:12236 TR_V_gene YES ENSP00000489072 A0A1B0GXF2.25 UPI0000176866 tolerated(0.08) benign(0.258) 2/2 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV NA NA NA NA . TCT . 1571.6 NA NA NA NA NA NA NA NA NA 142353265 TRBV7-2 0 . GRCh38 chr7 142353272 142353272 + Silent SNP G G A rs1419173665 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.261G>A p.Glu87= p.E87= ENST00000634605 2/2 NA NA NA NA NA NA TRBV7-2,synonymous_variant,p.Glu87=,ENST00000634605,;TRBV6-2,downstream_gene_variant,,ENST00000634383,;,regulatory_region_variant,,ENSR00000842163,; A ENSG00000282939 ENST00000634605 Transcript synonymous_variant 308/394 261/347 87/115 E gaG/gaA rs1419173665 1 NA 1 TRBV7-2 HGNC HGNC:12236 TR_V_gene YES ENSP00000489072 A0A1B0GXF2.25 UPI0000176866 2/2 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV NA NA NA NA . AGA . 1732.6 NA NA NA NA NA NA NA NA NA 142353272 TRBV7-2 0 . GRCh38 chr7 142353276 142353276 + Missense_Mutation SNP A A C rs1185319459 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.265A>C p.Thr89Pro p.T89P ENST00000634605 2/2 NA NA NA NA NA NA TRBV7-2,missense_variant,p.Thr89Pro,ENST00000634605,;TRBV6-2,downstream_gene_variant,,ENST00000634383,;,regulatory_region_variant,,ENSR00000842163,; C ENSG00000282939 ENST00000634605 Transcript missense_variant 312/394 265/347 89/115 T/P Act/Cct rs1185319459 1 NA 1 TRBV7-2 HGNC HGNC:12236 TR_V_gene YES ENSP00000489072 A0A1B0GXF2.25 UPI0000176866 tolerated(1) benign(0.001) 2/2 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV NA NA NA NA . GAC . 1750.6 NA NA NA NA NA NA NA NA NA 142353276 TRBV7-2 0 . GRCh38 chr7 142353280 142353280 + Missense_Mutation SNP G G A rs1210217077 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.269G>A p.Gly90Glu p.G90E ENST00000634605 2/2 NA NA NA NA NA NA TRBV7-2,missense_variant,p.Gly90Glu,ENST00000634605,;TRBV6-2,downstream_gene_variant,,ENST00000634383,;,regulatory_region_variant,,ENSR00000842163,; A ENSG00000282939 ENST00000634605 Transcript missense_variant 316/394 269/347 90/115 G/E gGg/gAg rs1210217077 1 NA 1 TRBV7-2 HGNC HGNC:12236 TR_V_gene YES ENSP00000489072 A0A1B0GXF2.25 UPI0000176866 tolerated(1) benign(0.003) 2/2 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV NA NA NA NA . GGG . 1884.6 NA NA NA NA NA NA NA NA NA 142353280 TRBV7-2 0 . GRCh38 chr7 142353301 142353301 + Missense_Mutation SNP C C A rs1044159011 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.290C>A p.Thr97Lys p.T97K ENST00000634605 2/2 NA NA NA NA NA NA TRBV7-2,missense_variant,p.Thr97Lys,ENST00000634605,;TRBV6-2,downstream_gene_variant,,ENST00000634383,;,regulatory_region_variant,,ENSR00000842163,; A ENSG00000282939 ENST00000634605 Transcript missense_variant 337/394 290/347 97/115 T/K aCg/aAg rs1044159011 1 NA 1 TRBV7-2 HGNC HGNC:12236 TR_V_gene YES ENSP00000489072 A0A1B0GXF2.25 UPI0000176866 tolerated(1) benign(0.001) 2/2 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV NA NA NA NA . ACG . 1504.6 NA NA NA NA NA NA NA NA NA 142353301 TRBV7-2 0 . GRCh38 chr7 142353329 142353329 + Silent SNP G G C rs927069627 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.318G>C p.Ser106= p.S106= ENST00000634605 2/2 NA NA NA NA NA NA TRBV7-2,synonymous_variant,p.Ser106=,ENST00000634605,;TRBV6-2,downstream_gene_variant,,ENST00000634383,;,regulatory_region_variant,,ENSR00000842163,; C ENSG00000282939 ENST00000634605 Transcript synonymous_variant 365/394 318/347 106/115 S tcG/tcC rs927069627 1 NA 1 TRBV7-2 HGNC HGNC:12236 TR_V_gene YES ENSP00000489072 A0A1B0GXF2.25 UPI0000176866 2/2 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV NA NA NA NA . CGG . 1915.6 NA NA NA NA NA NA NA NA NA 142353329 TRBV6-5 0 . GRCh38 chr7 142451250 142451250 + Missense_Mutation SNP A A G rs1256127073 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.146A>G p.Glu49Gly p.E49G ENST00000390368 2/2 NA NA NA NA NA NA TRBV6-5,missense_variant,p.Glu49Gly,ENST00000390368,;TRBV7-4,upstream_gene_variant,,ENST00000390369,;,regulatory_region_variant,,ENSR00000842193,; G ENSG00000211721 ENST00000390368 Transcript missense_variant 212/410 146/344 49/114 E/G gAa/gGa rs1256127073 1 NA 1 TRBV6-5 HGNC HGNC:12230 TR_V_gene YES ENSP00000374891 A0A0K0K1A5.42 UPI0003F48115 tolerated(0.06) benign(0) 2/2 PDB-ENSP_mappings:1ao7.E,PDB-ENSP_mappings:1bd2.E,PDB-ENSP_mappings:2bnq.E,PDB-ENSP_mappings:2bnr.E,PDB-ENSP_mappings:2bnu.B,PDB-ENSP_mappings:4wwk.B,PDB-ENSP_mappings:6jxr.n NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV NA NA NA NA . GAA . 6890.6 NA NA NA NA NA NA NA NA NA 142451250 TRBV6-5 0 . GRCh38 chr7 142451255 142451255 + Missense_Mutation SNP A A T rs565911179 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.151A>T p.Met51Leu p.M51L ENST00000390368 2/2 NA NA NA NA NA NA TRBV6-5,missense_variant,p.Met51Leu,ENST00000390368,;TRBV7-4,upstream_gene_variant,,ENST00000390369,;,regulatory_region_variant,,ENSR00000842193,; T ENSG00000211721 ENST00000390368 Transcript missense_variant 217/410 151/344 51/114 M/L Atg/Ttg rs565911179 1 NA 1 TRBV6-5 HGNC HGNC:12230 TR_V_gene YES ENSP00000374891 A0A0K0K1A5.42 UPI0003F48115 deleterious(0.01) benign(0.118) 2/2 PDB-ENSP_mappings:1ao7.E,PDB-ENSP_mappings:1bd2.E,PDB-ENSP_mappings:2bnq.E,PDB-ENSP_mappings:2bnr.E,PDB-ENSP_mappings:2bnu.B,PDB-ENSP_mappings:4wwk.B,PDB-ENSP_mappings:6jxr.n NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV NA NA NA NA . CAT . 7140.6 NA NA NA NA NA NA NA NA NA 142451255 TRBV6-5 0 . GRCh38 chr7 142451295 142451295 + Missense_Mutation SNP T T G rs1350520803 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.191T>G p.Leu64Arg p.L64R ENST00000390368 2/2 NA NA NA NA NA NA TRBV6-5,missense_variant,p.Leu64Arg,ENST00000390368,;TRBV7-4,upstream_gene_variant,,ENST00000390369,;,regulatory_region_variant,,ENSR00000842193,; G ENSG00000211721 ENST00000390368 Transcript missense_variant 257/410 191/344 64/114 L/R cTg/cGg rs1350520803 1 NA 1 TRBV6-5 HGNC HGNC:12230 TR_V_gene YES ENSP00000374891 A0A0K0K1A5.42 UPI0003F48115 deleterious(0.01) possibly_damaging(0.866) 2/2 PDB-ENSP_mappings:1ao7.E,PDB-ENSP_mappings:1bd2.E,PDB-ENSP_mappings:2bnq.E,PDB-ENSP_mappings:2bnr.E,PDB-ENSP_mappings:2bnu.B,PDB-ENSP_mappings:4wwk.B,PDB-ENSP_mappings:6jxr.n NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV NA NA NA NA . CTG . 9683.6 8.626e-06 6.594e-05 NA NA NA NA NA NA 3.296e-05 142451295 TRBV6-5 0 . GRCh38 chr7 142451296 142451296 + Silent SNP G G C rs1227979450 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.192G>C p.Leu64= p.L64= ENST00000390368 2/2 NA NA NA NA NA NA TRBV6-5,synonymous_variant,p.Leu64=,ENST00000390368,;TRBV7-4,upstream_gene_variant,,ENST00000390369,;,regulatory_region_variant,,ENSR00000842193,; C ENSG00000211721 ENST00000390368 Transcript synonymous_variant 258/410 192/344 64/114 L ctG/ctC rs1227979450 1 NA 1 TRBV6-5 HGNC HGNC:12230 TR_V_gene YES ENSP00000374891 A0A0K0K1A5.42 UPI0003F48115 2/2 PDB-ENSP_mappings:1ao7.E,PDB-ENSP_mappings:1bd2.E,PDB-ENSP_mappings:2bnq.E,PDB-ENSP_mappings:2bnr.E,PDB-ENSP_mappings:2bnu.B,PDB-ENSP_mappings:4wwk.B,PDB-ENSP_mappings:6jxr.n NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV NA NA NA NA . TGA . 9680.6 NA NA NA NA NA NA NA NA NA 142451296 TRBV6-5 0 . GRCh38 chr7 142451313 142451313 + Missense_Mutation SNP G G C rs979454017 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.209G>C p.Gly70Ala p.G70A ENST00000390368 2/2 NA NA NA NA NA NA TRBV6-5,missense_variant,p.Gly70Ala,ENST00000390368,;TRBV7-4,upstream_gene_variant,,ENST00000390369,;,regulatory_region_variant,,ENSR00000842193,; C ENSG00000211721 ENST00000390368 Transcript missense_variant 275/410 209/344 70/114 G/A gGt/gCt rs979454017 1 NA 1 TRBV6-5 HGNC HGNC:12230 TR_V_gene YES ENSP00000374891 A0A0K0K1A5.42 UPI0003F48115 tolerated(0.2) benign(0.021) 2/2 PDB-ENSP_mappings:1ao7.E,PDB-ENSP_mappings:1bd2.E,PDB-ENSP_mappings:2bnq.E,PDB-ENSP_mappings:2bnr.E,PDB-ENSP_mappings:2bnu.B,PDB-ENSP_mappings:4wwk.B,PDB-ENSP_mappings:6jxr.n NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV NA NA NA NA . GGT . 9815.6 4.262e-06 NA NA NA NA NA 9.154e-06 NA NA 142451313 TRBV6-5 0 . GRCh38 chr7 142451359 142451359 + Silent SNP C C A rs776522134 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.255C>A p.Val85= p.V85= ENST00000390368 2/2 NA NA NA NA NA NA TRBV6-5,synonymous_variant,p.Val85=,ENST00000390368,;TRBV7-4,upstream_gene_variant,,ENST00000390369,;,regulatory_region_variant,,ENSR00000842193,; A ENSG00000211721 ENST00000390368 Transcript synonymous_variant 321/410 255/344 85/114 V gtC/gtA rs776522134 1 NA 1 TRBV6-5 HGNC HGNC:12230 TR_V_gene YES ENSP00000374891 A0A0K0K1A5.42 UPI0003F48115 2/2 PDB-ENSP_mappings:1ao7.E,PDB-ENSP_mappings:1bd2.E,PDB-ENSP_mappings:2bnq.E,PDB-ENSP_mappings:2bnr.E,PDB-ENSP_mappings:2bnu.B,PDB-ENSP_mappings:4wwk.B,PDB-ENSP_mappings:6jxr.n NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV NA NA NA NA . TCT . 7523.6 4.263e-06 NA NA NA NA NA NA NA 3.274e-05 142451359 TRBV6-5 0 . GRCh38 chr7 142451370 142451370 + Missense_Mutation SNP C C A rs772421720 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.266C>A p.Thr89Asn p.T89N ENST00000390368 2/2 NA NA NA NA NA NA TRBV6-5,missense_variant,p.Thr89Asn,ENST00000390368,;TRBV7-4,upstream_gene_variant,,ENST00000390369,;,regulatory_region_variant,,ENSR00000842193,; A ENSG00000211721 ENST00000390368 Transcript missense_variant 332/410 266/344 89/114 T/N aCc/aAc rs772421720 1 NA 1 TRBV6-5 HGNC HGNC:12230 TR_V_gene YES ENSP00000374891 A0A0K0K1A5.42 UPI0003F48115 tolerated(0.69) benign(0.001) 2/2 PDB-ENSP_mappings:1ao7.E,PDB-ENSP_mappings:1bd2.E,PDB-ENSP_mappings:2bnq.E,PDB-ENSP_mappings:2bnr.E,PDB-ENSP_mappings:2bnu.B,PDB-ENSP_mappings:4wwk.B,PDB-ENSP_mappings:6jxr.n NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV NA NA NA NA . ACC . 6418.6 2.277e-05 NA NA NA NA NA 5.947e-05 NA NA 142451370 TRBV6-5 0 . GRCh38 chr7 142451425 142451425 + Silent SNP G G A rs774540355 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.321G>A p.Val107= p.V107= ENST00000390368 2/2 NA NA NA NA NA NA TRBV6-5,synonymous_variant,p.Val107=,ENST00000390368,;TRBV7-4,upstream_gene_variant,,ENST00000390369,; A ENSG00000211721 ENST00000390368 Transcript synonymous_variant 387/410 321/344 107/114 V gtG/gtA rs774540355 1 NA 1 TRBV6-5 HGNC HGNC:12230 TR_V_gene YES ENSP00000374891 A0A0K0K1A5.42 UPI0003F48115 2/2 PDB-ENSP_mappings:1ao7.E,PDB-ENSP_mappings:1bd2.E,PDB-ENSP_mappings:2bnq.E,PDB-ENSP_mappings:2bnr.E,PDB-ENSP_mappings:2bnu.B,PDB-ENSP_mappings:4wwk.B,PDB-ENSP_mappings:6jxr.n NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV NA NA NA NA . TGT . 1540.6 2.985e-05 NA NA NA 0.0003955 NA NA NA NA 142451425 TRBV6-5 0 . GRCh38 chr7 142451446 142451446 + Silent SNP C C T rs193163966 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.342C>T p.Tyr114= p.Y114= ENST00000390368 2/2 NA NA NA NA NA NA TRBV6-5,synonymous_variant,p.Tyr114=,ENST00000390368,;TRBV7-4,upstream_gene_variant,,ENST00000390369,; T ENSG00000211721 ENST00000390368 Transcript synonymous_variant 408/410 342/344 114/114 Y taC/taT rs193163966 1 NA 1 TRBV6-5 HGNC HGNC:12230 TR_V_gene YES ENSP00000374891 A0A0K0K1A5.42 UPI0003F48115 2/2 PDB-ENSP_mappings:1ao7.E,PDB-ENSP_mappings:1bd2.E,PDB-ENSP_mappings:2bnq.E,PDB-ENSP_mappings:2bnr.E,PDB-ENSP_mappings:2bnu.B 2e-04 NA NA NA NA 0.001 NA NA NA NA NA NA NA LOW 1 SNV NA NA NA NA . ACT . 785.6 4.282e-06 NA NA NA NA NA 9.193e-06 NA NA 142451446 TRBV6-7 0 . GRCh38 chr7 142487869 142487869 + Missense_Mutation SNP C C A rs565744849 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.7C>A p.Leu3Ile p.L3I ENST00000390373 1/2 NA NA NA NA NA NA TRBV6-7,missense_variant,p.Leu3Ile,ENST00000390373,;TRBV5-5,downstream_gene_variant,,ENST00000390372,;TRBV7-6,upstream_gene_variant,,ENST00000390374,; A ENSG00000253188 ENST00000390373 Transcript missense_variant 7/344 7/344 3/114 L/I Ctc/Atc rs565744849 1 NA 1 TRBV6-7 HGNC HGNC:12232 TR_V_gene YES ENSP00000374896 A0A0A0MS04.41 UPI0003F483DF tolerated(0.43) benign(0) 1/2 2e-04 8e-04 NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV NA NA NA NA . CCT . 828.6 1.279e-05 6.608e-05 NA NA NA NA 1.832e-05 NA NA 142487869 TRBV6-7 0 . GRCh38 chr7 142488293 142488293 + Silent SNP C C T rs753935903 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.342C>T p.Tyr114= p.Y114= ENST00000390373 2/2 NA NA NA NA NA NA TRBV6-7,synonymous_variant,p.Tyr114=,ENST00000390373,;TRBV7-6,upstream_gene_variant,,ENST00000390374,; T ENSG00000253188 ENST00000390373 Transcript synonymous_variant 342/344 342/344 114/114 Y taC/taT rs753935903 1 NA 1 TRBV6-7 HGNC HGNC:12232 TR_V_gene YES ENSP00000374896 A0A0A0MS04.41 UPI0003F483DF 2/2 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV NA NA NA NA . ACT . 1254.6 1.73e-05 NA 2.913e-05 NA NA NA 2.785e-05 NA NA 142488293 TRBV7-6 0 . GRCh38 chr7 142492404 142492404 + Silent SNP T T C rs1412778050 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.78T>C p.Ser26= p.S26= ENST00000390374 2/2 NA NA NA NA NA NA TRBV7-6,synonymous_variant,p.Ser26=,ENST00000390374,;TRBV6-7,downstream_gene_variant,,ENST00000390373,; C ENSG00000211727 ENST00000390374 Transcript synonymous_variant 123/392 78/347 26/115 S tcT/tcC rs1412778050 1 NA 1 TRBV7-6 HGNC HGNC:12240 TR_V_gene YES ENSP00000374897 A0A1B0GX31.23 UPI00053BD5EC 2/2 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV NA NA NA NA . CTC . 1820.6 NA NA NA NA NA NA NA NA NA 142492404 TRBV7-6 0 . GRCh38 chr7 142492407 142492407 + Silent SNP C C T rs768429978 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.81C>T p.Pro27= p.P27= ENST00000390374 2/2 NA NA NA NA NA NA TRBV7-6,synonymous_variant,p.Pro27=,ENST00000390374,;TRBV6-7,downstream_gene_variant,,ENST00000390373,; T ENSG00000211727 ENST00000390374 Transcript synonymous_variant 126/392 81/347 27/115 P ccC/ccT rs768429978 1 NA 1 TRBV7-6 HGNC HGNC:12240 TR_V_gene YES ENSP00000374897 A0A1B0GX31.23 UPI00053BD5EC 2/2 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV NA NA NA NA . CCA . 1915.6 1.714e-05 NA NA NA 0.00017 NA NA 0.0001706 NA 142492407 TRBV7-6 0 . GRCh38 chr7 142492428 142492428 + Silent SNP G G A rs1290964339 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.102G>A p.Arg34= p.R34= ENST00000390374 2/2 NA NA NA NA NA NA TRBV7-6,synonymous_variant,p.Arg34=,ENST00000390374,;TRBV6-7,downstream_gene_variant,,ENST00000390373,; A ENSG00000211727 ENST00000390374 Transcript synonymous_variant 147/392 102/347 34/115 R agG/agA rs1290964339 1 NA 1 TRBV7-6 HGNC HGNC:12240 TR_V_gene YES ENSP00000374897 A0A1B0GX31.23 UPI00053BD5EC 2/2 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV NA NA NA NA . GGG . 2283.6 NA NA NA NA NA NA NA NA NA 142492428 TRBV7-6 0 . GRCh38 chr7 142492481 142492481 + Missense_Mutation SNP A A T rs370378187 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.155A>T p.Tyr52Phe p.Y52F ENST00000390374 2/2 NA NA NA NA NA NA TRBV7-6,missense_variant,p.Tyr52Phe,ENST00000390374,;TRBV6-7,downstream_gene_variant,,ENST00000390373,; T ENSG00000211727 ENST00000390374 Transcript missense_variant 200/392 155/347 52/115 Y/F tAt/tTt rs370378187 1 NA 1 TRBV7-6 HGNC HGNC:12240 TR_V_gene YES ENSP00000374897 A0A1B0GX31.23 UPI00053BD5EC tolerated(0.29) benign(0.047) 2/2 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV NA NA NA NA . TAT . 2364.6 NA NA NA NA NA NA NA NA NA 142492481 TRBV7-6 0 . GRCh38 chr7 142492490 142492490 + Missense_Mutation SNP G G A rs375037927 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.164G>A p.Arg55Gln p.R55Q ENST00000390374 2/2 NA NA NA NA NA NA TRBV7-6,missense_variant,p.Arg55Gln,ENST00000390374,;TRBV6-7,downstream_gene_variant,,ENST00000390373,; A ENSG00000211727 ENST00000390374 Transcript missense_variant 209/392 164/347 55/115 R/Q cGa/cAa rs375037927 1 NA 1 TRBV7-6 HGNC HGNC:12240 TR_V_gene YES ENSP00000374897 A0A1B0GX31.23 UPI00053BD5EC tolerated(0.25) benign(0.009) 2/2 2e-04 NA NA NA NA 0.001 NA NA NA NA NA NA NA MODERATE 1 SNV NA NA NA NA . CGA . 2306.6 5.115e-05 NA 5.81e-05 NA NA NA 8.239e-05 NA 3.273e-05 142492490 TRBV7-6 0 . GRCh38 chr7 142492509 142492509 + Silent SNP C C G rs774590499 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.183C>G p.Gly61= p.G61= ENST00000390374 2/2 NA NA NA NA NA NA TRBV7-6,synonymous_variant,p.Gly61=,ENST00000390374,;TRBV6-7,downstream_gene_variant,,ENST00000390373,; G ENSG00000211727 ENST00000390374 Transcript synonymous_variant 228/392 183/347 61/115 G ggC/ggG rs774590499 1 NA 1 TRBV7-6 HGNC HGNC:12240 TR_V_gene YES ENSP00000374897 A0A1B0GX31.23 UPI00053BD5EC 2/2 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV NA NA NA NA . GCC . 1805.6 4.262e-06 NA NA NA NA NA 9.156e-06 NA NA 142492509 TRBV7-6 0 . GRCh38 chr7 142492527 142492527 + Silent SNP C C T rs1173995870 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.201C>T p.Tyr67= p.Y67= ENST00000390374 2/2 NA NA NA NA NA NA TRBV7-6,synonymous_variant,p.Tyr67=,ENST00000390374,;TRBV6-7,downstream_gene_variant,,ENST00000390373,; T ENSG00000211727 ENST00000390374 Transcript synonymous_variant 246/392 201/347 67/115 Y taC/taT rs1173995870 1 NA 1 TRBV7-6 HGNC HGNC:12240 TR_V_gene YES ENSP00000374897 A0A1B0GX31.23 UPI00053BD5EC 2/2 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV NA NA NA NA . ACT . 1145.6 NA NA NA NA NA NA NA NA NA 142492527 TRBV7-6 0 . GRCh38 chr7 142492531 142492531 + Missense_Mutation SNP A A C rs780620323 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.205A>C p.Asn69His p.N69H ENST00000390374 2/2 NA NA NA NA NA NA TRBV7-6,missense_variant,p.Asn69His,ENST00000390374,;TRBV6-7,downstream_gene_variant,,ENST00000390373,; C ENSG00000211727 ENST00000390374 Transcript missense_variant 250/392 205/347 69/115 N/H Aat/Cat rs780620323 1 NA 1 TRBV7-6 HGNC HGNC:12240 TR_V_gene YES ENSP00000374897 A0A1B0GX31.23 UPI00053BD5EC tolerated(0.25) benign(0.436) 2/2 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV NA NA NA NA . CAA . 776.6 NA NA NA NA NA NA NA NA NA 142492531 TRBV7-6 0 . GRCh38 chr7 142492533 142492533 + Missense_Mutation SNP T T G rs1461885828 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.207T>G p.Asn69Lys p.N69K ENST00000390374 2/2 NA NA NA NA NA NA TRBV7-6,missense_variant,p.Asn69Lys,ENST00000390374,;TRBV6-7,downstream_gene_variant,,ENST00000390373,; G ENSG00000211727 ENST00000390374 Transcript missense_variant 252/392 207/347 69/115 N/K aaT/aaG rs1461885828 1 NA 1 TRBV7-6 HGNC HGNC:12240 TR_V_gene YES ENSP00000374897 A0A1B0GX31.23 UPI00053BD5EC tolerated(0.14) benign(0.039) 2/2 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV NA NA NA NA . ATT . 554.6 NA NA NA NA NA NA NA NA NA 142492533 TRBV7-6 0 . GRCh38 chr7 142492534 142492534 + Missense_Mutation SNP T T A rs1169385397 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.208T>A p.Tyr70Asn p.Y70N ENST00000390374 2/2 NA NA NA NA NA NA TRBV7-6,missense_variant,p.Tyr70Asn,ENST00000390374,;TRBV6-7,downstream_gene_variant,,ENST00000390373,; A ENSG00000211727 ENST00000390374 Transcript missense_variant 253/392 208/347 70/115 Y/N Tat/Aat rs1169385397 1 NA 1 TRBV7-6 HGNC HGNC:12240 TR_V_gene YES ENSP00000374897 A0A1B0GX31.23 UPI00053BD5EC tolerated(1) benign(0) 2/2 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV NA NA NA NA . TTA . 503.6 NA NA NA NA NA NA NA NA NA 142492534 TRBV7-6 0 . GRCh38 chr7 142492542 142492542 + Silent SNP C C T rs1428148377 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.216C>T p.Ala72= p.A72= ENST00000390374 2/2 NA NA NA NA NA NA TRBV7-6,synonymous_variant,p.Ala72=,ENST00000390374,;TRBV6-7,downstream_gene_variant,,ENST00000390373,; T ENSG00000211727 ENST00000390374 Transcript synonymous_variant 261/392 216/347 72/115 A gcC/gcT rs1428148377 1 NA 1 TRBV7-6 HGNC HGNC:12240 TR_V_gene YES ENSP00000374897 A0A1B0GX31.23 UPI00053BD5EC 2/2 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV NA NA NA NA . CCC . 392.6 NA NA NA NA NA NA NA NA NA 142492542 TRBV7-6 0 . GRCh38 chr7 142492547 142492547 + Missense_Mutation SNP A A T rs763707402 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.221A>T p.Gln74Leu p.Q74L ENST00000390374 2/2 NA NA NA NA NA NA TRBV7-6,missense_variant,p.Gln74Leu,ENST00000390374,;TRBV6-7,downstream_gene_variant,,ENST00000390373,; T ENSG00000211727 ENST00000390374 Transcript missense_variant 266/392 221/347 74/115 Q/L cAa/cTa rs763707402 1 NA 1 TRBV7-6 HGNC HGNC:12240 TR_V_gene YES ENSP00000374897 A0A1B0GX31.23 UPI00053BD5EC tolerated(0.74) benign(0) 2/2 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV NA NA NA NA . CAA . 373.6 NA NA NA NA NA NA NA NA NA 142492547 TRBV7-6 0 . GRCh38 chr7 142492557 142492557 + Silent SNP A A G rs1224952375 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.231A>G p.Ser77= p.S77= ENST00000390374 2/2 NA NA NA NA NA NA TRBV7-6,synonymous_variant,p.Ser77=,ENST00000390374,;TRBV6-7,downstream_gene_variant,,ENST00000390373,; G ENSG00000211727 ENST00000390374 Transcript synonymous_variant 276/392 231/347 77/115 S tcA/tcG rs1224952375 1 NA 1 TRBV7-6 HGNC HGNC:12240 TR_V_gene YES ENSP00000374897 A0A1B0GX31.23 UPI00053BD5EC 2/2 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV NA NA NA NA . CAG . 37.6 NA NA NA NA NA NA NA NA NA 142492557 TRBV6-8 0 . GRCh38 chr7 142507388 142507388 + Missense_Mutation SNP C C A rs780280915 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.7C>A p.Leu3Ile p.L3I ENST00000390376 1/2 NA NA NA NA NA NA TRBV6-8,missense_variant,p.Leu3Ile,ENST00000390376,;TRBV7-7,upstream_gene_variant,,ENST00000390377,;,regulatory_region_variant,,ENSR00000842207,; A ENSG00000253534 ENST00000390376 Transcript missense_variant 7/341 7/341 3/113 L/I Ctc/Atc rs780280915 1 NA 1 TRBV6-8 HGNC HGNC:12233 TR_V_gene YES ENSP00000374899 A0A0A6YYG3.36 UPI00053BD5B9 tolerated(0.42) benign(0) 1/2 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV NA NA NA NA . CCT . 4120.6 8.531e-06 NA NA NA NA NA 9.169e-06 NA 3.272e-05 142507388 TRBV6-8 0 . GRCh38 chr7 142507620 142507620 + Missense_Mutation SNP A A T rs369877491 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.151A>T p.Met51Leu p.M51L ENST00000390376 2/2 NA NA NA NA NA NA TRBV6-8,missense_variant,p.Met51Leu,ENST00000390376,;TRBV7-7,upstream_gene_variant,,ENST00000390377,;,regulatory_region_variant,,ENSR00000842207,; T ENSG00000253534 ENST00000390376 Transcript missense_variant 151/341 151/341 51/113 M/L Atg/Ttg rs369877491 1 NA 1 TRBV6-8 HGNC HGNC:12233 TR_V_gene YES ENSP00000374899 A0A0A6YYG3.36 UPI00053BD5B9 deleterious(0.01) benign(0.221) 2/2 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV NA NA NA NA . CAT . 3997.6 8.523e-06 NA 2.905e-05 NA NA NA 9.153e-06 NA NA 142507620 TRBV6-8 0 . GRCh38 chr7 142507658 142507658 + Silent SNP A A G rs760785791 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.189A>G p.Arg63= p.R63= ENST00000390376 2/2 NA NA NA NA NA NA TRBV6-8,synonymous_variant,p.Arg63=,ENST00000390376,;TRBV7-7,upstream_gene_variant,,ENST00000390377,;,regulatory_region_variant,,ENSR00000842207,; G ENSG00000253534 ENST00000390376 Transcript synonymous_variant 189/341 189/341 63/113 R agA/agG rs760785791 1 NA 1 TRBV6-8 HGNC HGNC:12233 TR_V_gene YES ENSP00000374899 A0A0A6YYG3.36 UPI00053BD5B9 2/2 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV NA NA NA NA . GAC . 1292.6 1.279e-05 NA 2.905e-05 NA 5.651e-05 NA 9.154e-06 NA NA 142507658 TRBV6-8 0 . GRCh38 chr7 142507660 142507660 + Missense_Mutation SNP T T G rs767805577 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.191T>G p.Leu64Arg p.L64R ENST00000390376 2/2 NA NA NA NA NA NA TRBV6-8,missense_variant,p.Leu64Arg,ENST00000390376,;TRBV7-7,upstream_gene_variant,,ENST00000390377,;,regulatory_region_variant,,ENSR00000842207,; G ENSG00000253534 ENST00000390376 Transcript missense_variant 191/341 191/341 64/113 L/R cTg/cGg rs767805577 1 NA 1 TRBV6-8 HGNC HGNC:12233 TR_V_gene YES ENSP00000374899 A0A0A6YYG3.36 UPI00053BD5B9 deleterious(0.02) possibly_damaging(0.496) 2/2 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV NA NA NA NA . CTG . 1280.6 NA NA NA NA NA NA NA NA NA 142507660 TRBV6-8 0 . GRCh38 chr7 142507661 142507661 + Silent SNP G G C rs1406488631 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.192G>C p.Leu64= p.L64= ENST00000390376 2/2 NA NA NA NA NA NA TRBV6-8,synonymous_variant,p.Leu64=,ENST00000390376,;TRBV7-7,upstream_gene_variant,,ENST00000390377,;,regulatory_region_variant,,ENSR00000842207,; C ENSG00000253534 ENST00000390376 Transcript synonymous_variant 192/341 192/341 64/113 L ctG/ctC rs1406488631 1 NA 1 TRBV6-8 HGNC HGNC:12233 TR_V_gene YES ENSP00000374899 A0A0A6YYG3.36 UPI00053BD5B9 2/2 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV NA NA NA NA . TGA . 1218.6 NA NA NA NA NA NA NA NA NA 142507661 TRBV6-8 0 . GRCh38 chr7 142507665 142507665 + Missense_Mutation SNP T T C rs1426635101 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.196T>C p.Tyr66His p.Y66H ENST00000390376 2/2 NA NA NA NA NA NA TRBV6-8,missense_variant,p.Tyr66His,ENST00000390376,;TRBV7-7,upstream_gene_variant,,ENST00000390377,;,regulatory_region_variant,,ENSR00000842207,; C ENSG00000253534 ENST00000390376 Transcript missense_variant 196/341 196/341 66/113 Y/H Tac/Cac rs1426635101 1 NA 1 TRBV6-8 HGNC HGNC:12233 TR_V_gene YES ENSP00000374899 A0A0A6YYG3.36 UPI00053BD5B9 tolerated(1) benign(0.007) 2/2 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV NA NA NA NA . TTA . 1055.6 NA NA NA NA NA NA NA NA NA 142507665 TRBV6-8 0 . GRCh38 chr7 142507667 142507667 + Silent SNP C C T rs774794324 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.198C>T p.Tyr66= p.Y66= ENST00000390376 2/2 NA NA NA NA NA NA TRBV6-8,synonymous_variant,p.Tyr66=,ENST00000390376,;TRBV7-7,upstream_gene_variant,,ENST00000390377,;,regulatory_region_variant,,ENSR00000842207,; T ENSG00000253534 ENST00000390376 Transcript synonymous_variant 198/341 198/341 66/113 Y taC/taT rs774794324 1 NA 1 TRBV6-8 HGNC HGNC:12233 TR_V_gene YES ENSP00000374899 A0A0A6YYG3.36 UPI00053BD5B9 2/2 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV NA NA NA NA . ACT . 848.6 NA NA NA NA NA NA NA NA NA 142507667 TRBV6-8 0 . GRCh38 chr7 142507675 142507675 + Missense_Mutation SNP C C T rs1005247369 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.206C>T p.Ala69Val p.A69V ENST00000390376 2/2 NA NA NA NA NA NA TRBV6-8,missense_variant,p.Ala69Val,ENST00000390376,;TRBV7-7,upstream_gene_variant,,ENST00000390377,;,regulatory_region_variant,,ENSR00000842207,; T ENSG00000253534 ENST00000390376 Transcript missense_variant 206/341 206/341 69/113 A/V gCt/gTt rs1005247369 1 NA 1 TRBV6-8 HGNC HGNC:12233 TR_V_gene YES ENSP00000374899 A0A0A6YYG3.36 UPI00053BD5B9 tolerated(0.53) benign(0) 2/2 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV NA NA NA NA . GCT . 590.6 4.262e-06 NA NA NA NA NA NA 0.000169 NA 142507675 TRBV5-7 0 . GRCh38 chr7 142520368 142520368 + Missense_Mutation SNP C C A rs376369262 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.155C>A p.Ser52Tyr p.S52Y ENST00000390378 2/2 NA NA NA NA NA NA TRBV5-7,missense_variant,p.Ser52Tyr,ENST00000390378,;,regulatory_region_variant,,ENSR00000842209,; A ENSG00000211731 ENST00000390378 Transcript missense_variant 155/343 155/343 52/114 S/Y tCc/tAc rs376369262 1 NA 1 TRBV5-7 HGNC HGNC:12224 TR_V_gene YES ENSP00000374901 A0A0A0MS05.34 UPI000011DFCF tolerated(1) benign(0) 2/2 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV NA NA NA NA . TCC . 622.6 NA NA NA NA NA NA NA NA NA 142520368 TRBV5-7 0 . GRCh38 chr7 142520371 142520371 + Missense_Mutation SNP C C G rs371927287 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.158C>G p.Ser53Trp p.S53W ENST00000390378 2/2 NA NA NA NA NA NA TRBV5-7,missense_variant,p.Ser53Trp,ENST00000390378,;,regulatory_region_variant,,ENSR00000842209,; G ENSG00000211731 ENST00000390378 Transcript missense_variant 158/343 158/343 53/114 S/W tCg/tGg rs371927287 1 NA 1 TRBV5-7 HGNC HGNC:12224 TR_V_gene YES ENSP00000374901 A0A0A0MS05.34 UPI000011DFCF tolerated(1) benign(0) 2/2 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV NA NA NA NA . TCG . 622.6 9.386e-05 0.000264 0.0002034 NA 0.0003981 NA 9.163e-06 0.000169 6.546e-05 142520371 TRBV7-9 0 . GRCh38 chr7 142529491 142529491 + Missense_Mutation SNP A A G rs361377 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.76A>G p.Asn26Asp p.N26D ENST00000612787 2/2 NA NA NA NA NA NA TRBV7-9,missense_variant,p.Asn26Asp,ENST00000612787,; G ENSG00000278030 ENST00000612787 Transcript missense_variant 76/347 76/347 26/115 N/D Aac/Gac rs361377 1 NA 1 TRBV7-9 HGNC HGNC:12243 TR_V_gene YES ENSP00000478301 P04435.129 UPI00053BD5F1 tolerated(0.07) benign(0.001) 2/2 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV NA NA NA NA . GAA . 7068.03 NA NA NA NA NA NA NA NA NA 142529491 TRBV13 0 . GRCh38 chr7 142535861 142535861 + Missense_Mutation SNP G G A rs17282 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.53G>A p.Arg18His p.R18H ENST00000614171 1/2 NA NA NA NA NA NA TRBV13,missense_variant,p.Arg18His,ENST00000614171,;,regulatory_region_variant,,ENSR00000328782,;,regulatory_region_variant,,ENSR00000842217,; A ENSG00000276405 ENST00000614171 Transcript missense_variant 53/374 53/374 18/124 R/H cGt/cAt rs17282 1 NA 1 TRBV13 HGNC HGNC:12188 TR_V_gene YES ENSP00000477580 A0A0A6YYD4.37 UPI0003F4846B tolerated(0.06) benign(0) 1/2 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV NA NA NA NA . CGT . 2380.6 NA NA NA NA NA NA NA NA NA 142535861 TRBV10-3 0 . GRCh38 chr7 142544396 142544396 + Missense_Mutation SNP A A G rs16622 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.55A>G p.Met19Val p.M19V ENST00000611462 2/2 NA NA NA NA NA NA TRBV10-3,missense_variant,p.Met19Val,ENST00000611462,; G ENSG00000275791 ENST00000611462 Transcript missense_variant 79/368 55/344 19/114 M/V Atg/Gtg rs16622 1 NA 1 TRBV10-3 HGNC HGNC:12179 TR_V_gene YES ENSP00000479267 A0A0K0K1G6.33 UPI0003F47EA8 tolerated(1) benign(0) 2/2 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV NA NA NA NA . CAT . 3487.6 NA NA NA NA NA NA NA NA NA 142544396 TRBV10-3 0 . GRCh38 chr7 142544470 142544470 + Silent SNP C C T rs16621 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.129C>T p.His43= p.H43= ENST00000611462 2/2 NA NA NA NA NA NA TRBV10-3,synonymous_variant,p.His43=,ENST00000611462,; T ENSG00000275791 ENST00000611462 Transcript synonymous_variant 153/368 129/344 43/114 H caC/caT rs16621 1 NA 1 TRBV10-3 HGNC HGNC:12179 TR_V_gene YES ENSP00000479267 A0A0K0K1G6.33 UPI0003F47EA8 2/2 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV NA NA NA NA . ACC . 4085.6 NA NA NA NA NA NA NA NA NA 142544470 TRBV10-3 0 . GRCh38 chr7 142544491 142544491 + Silent SNP T T C rs17246 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.150T>C p.Tyr50= p.Y50= ENST00000611462 2/2 NA NA NA NA NA NA TRBV10-3,synonymous_variant,p.Tyr50=,ENST00000611462,; C ENSG00000275791 ENST00000611462 Transcript synonymous_variant 174/368 150/344 50/114 Y taT/taC rs17246 1 NA 1 TRBV10-3 HGNC HGNC:12179 TR_V_gene YES ENSP00000479267 A0A0K0K1G6.33 UPI0003F47EA8 2/2 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV NA NA NA NA . ATA . 4004.6 NA NA NA NA NA NA NA NA NA 142544491 TRBV10-3 0 . GRCh38 chr7 142544533 142544533 + Silent SNP G G A rs17247 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.192G>A p.Leu64= p.L64= ENST00000611462 2/2 NA NA NA NA NA NA TRBV10-3,synonymous_variant,p.Leu64=,ENST00000611462,; A ENSG00000275791 ENST00000611462 Transcript synonymous_variant 216/368 192/344 64/114 L ctG/ctA rs17247 1 NA 1 TRBV10-3 HGNC HGNC:12179 TR_V_gene YES ENSP00000479267 A0A0K0K1G6.33 UPI0003F47EA8 2/2 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV NA NA NA NA . TGA . 3272.6 NA NA NA NA NA NA NA NA NA 142544533 TRBV11-3 0 . GRCh38 chr7 142555135 142555135 + Missense_Mutation SNP T T G rs17272 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.164T>G p.Leu55Arg p.L55R ENST00000611787 2/2 NA NA NA NA NA NA TRBV11-3,missense_variant,p.Leu55Arg,ENST00000611787,;,regulatory_region_variant,,ENSR00000842225,; G ENSG00000276597 ENST00000611787 Transcript missense_variant 209/392 164/347 55/115 L/R cTg/cGg rs17272 1 NA 1 TRBV11-3 HGNC HGNC:12182 TR_V_gene YES ENSP00000480080 A0A5A6.69 UPI00001140E2 tolerated(1) benign(0) 2/2 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV NA NA NA NA . CTG . 3404.6 NA NA NA NA NA NA NA NA NA 142555135 TRBV12-4 0 . GRCh38 chr7 142563803 142563803 + Missense_Mutation SNP G G A rs361404 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.5G>A p.Gly2Asp p.G2D ENST00000617347 1/2 NA NA NA NA NA NA TRBV12-4,missense_variant,p.Gly2Asp,ENST00000617347,;TRBV12-3,downstream_gene_variant,,ENST00000620569,;,TF_binding_site_variant,,ENSM00524217540,;,TF_binding_site_variant,,ENSM00524624904,; A ENSG00000276953 ENST00000617347 Transcript missense_variant 64/406 5/347 2/115 G/D gGc/gAc rs361404 1 NA 1 TRBV12-4 HGNC HGNC:12186 TR_V_gene YES ENSP00000480999 A0A0B4J2E0.39 UPI0000113BD0 tolerated(0.51) benign(0.036) 1/2 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV NA NA NA NA . GGC . 1456.6 NA NA NA NA NA NA NA NA NA 142563803 TRBV12-4 0 . GRCh38 chr7 142564042 142564042 + Silent SNP C C T rs361406 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.144C>T p.His48= p.H48= ENST00000617347 2/2 NA NA NA NA NA NA TRBV12-4,synonymous_variant,p.His48=,ENST00000617347,;TRBV12-3,downstream_gene_variant,,ENST00000620569,;,regulatory_region_variant,,ENSR00000842226,; T ENSG00000276953 ENST00000617347 Transcript synonymous_variant 203/406 144/347 48/115 H caC/caT rs361406 1 NA 1 TRBV12-4 HGNC HGNC:12186 TR_V_gene YES ENSP00000480999 A0A0B4J2E0.39 UPI0000113BD0 2/2 PDB-ENSP_mappings:5c07.E,PDB-ENSP_mappings:5c07.J,PDB-ENSP_mappings:5c08.E,PDB-ENSP_mappings:5c08.J,PDB-ENSP_mappings:5c09.E,PDB-ENSP_mappings:5c09.J,PDB-ENSP_mappings:5c0a.E,PDB-ENSP_mappings:5c0a.J,PDB-ENSP_mappings:5c0b.E,PDB-ENSP_mappings:5c0b.J,PDB-ENSP_mappings:5c0c.E,PDB-ENSP_mappings:5c0c.J,PDB-ENSP_mappings:5hyj.E,PDB-ENSP_mappings:5hyj.J NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV NA NA NA NA . ACG . 3638.6 NA NA NA NA NA NA NA NA NA 142564042 TRBV12-5 0 . GRCh38 chr7 142581165 142581165 + Missense_Mutation SNP C C G rs17229 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.85C>G p.His29Asp p.H29D ENST00000621184 2/2 NA NA NA NA NA NA TRBV12-5,missense_variant,p.His29Asp,ENST00000621184,; G ENSG00000275158 ENST00000621184 Transcript missense_variant 149/411 85/347 29/115 H/D Cac/Gac rs17229 1 NA 1 TRBV12-5 HGNC HGNC:12187 TR_V_gene YES ENSP00000479506 A0A1B0GX78.23 UPI0000176844 deleterious(0.01) possibly_damaging(0.839) 2/2 NA NA NA NA NA NA NA NA NA 18840782,16451695 NA NA NA NA MODERATE 1 SNV NA NA NA NA . GCA . 4306.6 NA NA NA NA NA NA NA NA NA 142581165 TRBV14 0 . GRCh38 chr7 142588240 142588240 + Silent SNP G G A rs17257 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.228G>A p.Glu76= p.E76= ENST00000617639 2/2 NA NA NA NA NA NA TRBV14,synonymous_variant,p.Glu76=,ENST00000617639,;TRBV15,upstream_gene_variant,,ENST00000616518,;,regulatory_region_variant,,ENSR00001132612,; A ENSG00000275743 ENST00000617639 Transcript synonymous_variant 287/406 228/347 76/115 E gaG/gaA rs17257 1 NA 1 TRBV14 HGNC HGNC:12189 TR_V_gene YES ENSP00000477671 A0A5B0.65 UPI0000115AC1 2/2 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV NA NA NA NA . AGT . 2434.6 NA NA NA NA NA NA NA NA NA 142588240 TRBV17 0 . GRCh38 chr7 142602301 142602301 + Silent SNP A A G rs17291 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.285A>G p.Thr95= p.T95= ENST00000619103 2/2 NA NA NA NA NA NA TRBV17,synonymous_variant,p.Thr95=,ENST00000619103,;TRBV16,downstream_gene_variant,,ENST00000620773,; G ENSG00000277880 ENST00000619103 Transcript synonymous_variant 285/344 285/344 95/114 T acA/acG rs17291 1 NA 1 TRBV17 HGNC HGNC:12192 TR_V_gene YES ENSP00000483468 A0A087X0K7.37 UPI0003F47E4F 2/2 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV NA NA NA NA . CAC . 4657.03 NA NA NA NA NA NA NA NA NA 142602301 TRBV18 0 . GRCh38 chr7 142615809 142615809 + Missense_Mutation SNP C C G rs17264 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.13C>G p.Leu5Val p.L5V ENST00000611520 1/2 NA NA NA NA NA NA TRBV18,missense_variant,p.Leu5Val,ENST00000611520,;TRBV19,upstream_gene_variant,,ENST00000390393,;,regulatory_region_variant,,ENSR00000842243,; G ENSG00000276557 ENST00000611520 Transcript missense_variant 94/428 13/347 5/115 L/V Cta/Gta rs17264 1 NA 1 TRBV18 HGNC HGNC:12193 TR_V_gene YES ENSP00000483504 A0A087X0M5.35 UPI00053BD5CF tolerated(0.1) benign(0.058) 1/2 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV NA NA NA NA . ACT . 7249.03 NA NA NA NA NA NA NA NA NA 142615809 TRBV29-1 0 . GRCh38 chr7 142740711 142740711 + Missense_Mutation SNP G G A rs375926475 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.152G>A p.Arg51His p.R51H ENST00000422143 2/2 NA NA NA NA NA NA TRBV29-1,missense_variant,p.Arg51His,ENST00000422143,;,regulatory_region_variant,,ENSR00000842278,; A ENSG00000232869 ENST00000422143 Transcript missense_variant 219/402 152/335 51/111 R/H cGt/cAt rs375926475 1 NA 1 TRBV29-1 HGNC HGNC:12210 TR_V_gene YES ENSP00000395459 A0A5B7.70 UPI0000115AC8 tolerated(0.22) benign(0.059) 2/2 NA NA NA NA NA NA NA 0.0002496 NA NA NA NA NA MODERATE 1 SNV NA NA NA NA . CGT . 3743.6 5.117e-05 0.0003957 NA NA 0.0001132 NA 3.664e-05 NA NA 142740711 PRSS1 5645 . GRCh38 chr7 142749506 142749506 + Missense_Mutation SNP A A G rs749856663 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.22A>G p.Thr8Ala p.T8A ENST00000486171 1/6 NA NA NA NA NA NA PRSS1,missense_variant,p.Thr8Ala,ENST00000311737,NM_002769.5;PRSS1,missense_variant,p.Thr8Ala,ENST00000486171,;PRSS1,missense_variant,p.Thr8Ala,ENST00000619214,;PRSS1,upstream_gene_variant,,ENST00000492062,;PRSS1,non_coding_transcript_exon_variant,,ENST00000485223,;PRSS1,non_coding_transcript_exon_variant,,ENST00000497041,;PRSS1,upstream_gene_variant,,ENST00000463701,;,regulatory_region_variant,,ENSR00000842282,; G ENSG00000204983 ENST00000486171 Transcript missense_variant 39/803 22/786 8/261 T/A Acc/Gcc rs749856663,COSV100298375 1 NA 1 PRSS1 HGNC HGNC:9475 protein_coding YES ENSP00000417854 E7EQ64.72 UPI0001B79292 tolerated(1) benign(0) 1/6 Cleavage_site_(Signalp):SignalP-noTM,Superfamily:SSF50494,PANTHER:PTHR24264:SF59,PANTHER:PTHR24264 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 5 NA 0,1 NA 1 . TAC . 851.6 7.953e-06 NA NA NA NA NA 1.758e-05 NA NA 142749506 PRSS1 5645 . GRCh38 chr7 142749516 142749516 + Missense_Mutation SNP C C G rs748442280 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.32C>G p.Ala11Gly p.A11G ENST00000486171 1/6 NA NA NA NA NA NA PRSS1,missense_variant,p.Ala11Gly,ENST00000311737,NM_002769.5;PRSS1,missense_variant,p.Ala11Gly,ENST00000486171,;PRSS1,missense_variant,p.Ala11Gly,ENST00000619214,;PRSS1,upstream_gene_variant,,ENST00000492062,;PRSS1,non_coding_transcript_exon_variant,,ENST00000485223,;PRSS1,non_coding_transcript_exon_variant,,ENST00000497041,;PRSS1,upstream_gene_variant,,ENST00000463701,;,regulatory_region_variant,,ENSR00000842282,; G ENSG00000204983 ENST00000486171 Transcript missense_variant 49/803 32/786 11/261 A/G gCa/gGa rs748442280 1 NA 1 PRSS1 HGNC HGNC:9475 protein_coding YES ENSP00000417854 E7EQ64.72 UPI0001B79292 tolerated(1) benign(0) 1/6 Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,Superfamily:SSF50494,PANTHER:PTHR24264:SF59,PANTHER:PTHR24264 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA 1 . GCA . 925.6 NA NA NA NA NA NA NA NA NA 142749516 PRSS1 5645 . GRCh38 chr7 142749524 142749524 + Missense_Mutation SNP C C G rs747228052 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.40C>G p.Leu14Val p.L14V ENST00000486171 1/6 NA NA NA NA NA NA PRSS1,missense_variant,p.Leu14Val,ENST00000311737,NM_002769.5;PRSS1,missense_variant,p.Leu14Val,ENST00000486171,;PRSS1,missense_variant,p.Leu14Val,ENST00000619214,;PRSS1,upstream_gene_variant,,ENST00000492062,;PRSS1,splice_region_variant,,ENST00000485223,;PRSS1,splice_region_variant,,ENST00000497041,;PRSS1,upstream_gene_variant,,ENST00000463701,;,regulatory_region_variant,,ENSR00000842282,; G ENSG00000204983 ENST00000486171 Transcript missense_variant,splice_region_variant 57/803 40/786 14/261 L/V Ctt/Gtt rs747228052 1 NA 1 PRSS1 HGNC HGNC:9475 protein_coding YES ENSP00000417854 E7EQ64.72 UPI0001B79292 tolerated(1) benign(0) 1/6 Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,Superfamily:SSF50494,PANTHER:PTHR24264:SF59,PANTHER:PTHR24264 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA 1 NA 1 . TCG . 931.6 3.977e-06 NA NA NA NA NA 8.791e-06 NA NA 142749524 PRSS1 5645 . GRCh38 chr7 142750558 142750558 + Missense_Mutation SNP C C G rs200665515 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.44C>G p.Ala15Gly p.A15G ENST00000486171 2/6 NA NA NA NA NA NA PRSS1,missense_variant,p.Ala15Gly,ENST00000311737,NM_002769.5;PRSS1,missense_variant,p.Ala15Gly,ENST00000486171,;PRSS1,missense_variant,p.Ala15Gly,ENST00000619214,;PRSS1,upstream_gene_variant,,ENST00000492062,;PRSS1,non_coding_transcript_exon_variant,,ENST00000497041,;PRSS1,intron_variant,,ENST00000485223,;PRSS1,upstream_gene_variant,,ENST00000463701,; G ENSG00000204983 ENST00000486171 Transcript missense_variant 61/803 44/786 15/261 A/G gCt/gGt rs200665515,COSV61192649 1 NA 1 PRSS1 HGNC HGNC:9475 protein_coding YES ENSP00000417854 E7EQ64.72 UPI0001B79292 deleterious(0.02) possibly_damaging(0.698) 2/6 Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,Superfamily:SSF50494,PANTHER:PTHR24264:SF59,PANTHER:PTHR24264 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 5 NA 0,1 NA 1 . GCT . 2500.6 2.038e-05 NA NA 1e-04 NA 5.211e-05 2.702e-05 NA NA 142750558 PRSS1 5645 . GRCh38 chr7 142750561 142750561 + Missense_Mutation SNP C C T rs202003805 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.47C>T p.Ala16Val p.A16V ENST00000486171 2/6 NA NA NA NA NA NA PRSS1,missense_variant,p.Ala16Val,ENST00000311737,NM_002769.5;PRSS1,missense_variant,p.Ala16Val,ENST00000486171,;PRSS1,missense_variant,p.Ala16Val,ENST00000619214,;PRSS1,upstream_gene_variant,,ENST00000492062,;PRSS1,non_coding_transcript_exon_variant,,ENST00000497041,;PRSS1,intron_variant,,ENST00000485223,;PRSS1,upstream_gene_variant,,ENST00000463701,; T ENSG00000204983 ENST00000486171 Transcript missense_variant 64/803 47/786 16/261 A/V gCc/gTc rs202003805,CM993429 1 NA 1 PRSS1 HGNC HGNC:9475 protein_coding YES ENSP00000417854 E7EQ64.72 UPI0001B79292 tolerated(0.57) benign(0.001) 2/6 Low_complexity_(Seg):seg,Superfamily:SSF50494,PANTHER:PTHR24264:SF59,PANTHER:PTHR24264 NA NA NA NA NA NA NA NA NA pathogenic,conflicting_interpretations_of_pathogenicity,uncertain_significance 22379635 NA NA NA NA MODERATE 1 SNV 5 NA 1,1 NA 1 . GCC . 2953.6 9.012e-05 NA 5.795e-05 NA NA 0.0001065 0.000163 NA NA 142750561 PRSS1 5645 . GRCh38 chr7 142750563 142750563 + Missense_Mutation SNP C C T rs770782578 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.49C>T p.Pro17Ser p.P17S ENST00000486171 2/6 NA NA NA NA NA NA PRSS1,missense_variant,p.Pro17Ser,ENST00000311737,NM_002769.5;PRSS1,missense_variant,p.Pro17Ser,ENST00000486171,;PRSS1,missense_variant,p.Pro17Ser,ENST00000619214,;PRSS1,upstream_gene_variant,,ENST00000492062,;PRSS1,non_coding_transcript_exon_variant,,ENST00000497041,;PRSS1,intron_variant,,ENST00000485223,;PRSS1,upstream_gene_variant,,ENST00000463701,; T ENSG00000204983 ENST00000486171 Transcript missense_variant 66/803 49/786 17/261 P/S Ccc/Tcc rs770782578 1 NA 1 PRSS1 HGNC HGNC:9475 protein_coding YES ENSP00000417854 E7EQ64.72 UPI0001B79292 tolerated(0.12) benign(0.023) 2/6 Low_complexity_(Seg):seg,Superfamily:SSF50494,PANTHER:PTHR24264:SF59,PANTHER:PTHR24264 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA 1 . CCC . 2568.6 4.524e-05 NA NA 0.0001007 NA 0.0001075 7.274e-05 NA NA 142750563 PRSS1 5645 . GRCh38 chr7 142751865 142751865 + Missense_Mutation SNP C C A rs750348889 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.334C>A p.Gln112Lys p.Q112K ENST00000486171 4/6 NA NA NA NA NA NA PRSS1,missense_variant,p.Gln98Lys,ENST00000311737,NM_002769.5;PRSS1,missense_variant,p.Gln112Lys,ENST00000486171,;PRSS1,missense_variant,p.Gln88Lys,ENST00000619214,;PRSS1,missense_variant,p.Gln48Lys,ENST00000492062,;PRSS1,non_coding_transcript_exon_variant,,ENST00000485223,;PRSS1,non_coding_transcript_exon_variant,,ENST00000463701,;PRSS1,downstream_gene_variant,,ENST00000497041,; A ENSG00000204983 ENST00000486171 Transcript missense_variant 351/803 334/786 112/261 Q/K Caa/Aaa rs750348889,HM060042,COSV61190455 1 NA 1 PRSS1 HGNC HGNC:9475 protein_coding YES ENSP00000417854 E7EQ64.72 UPI0001B79292 tolerated(1) benign(0) 4/6 CDD:cd00190,Gene3D:2.40.10.10,Pfam:PF00089,SMART:SM00020,Superfamily:SSF50494,PROSITE_profiles:PS50240,PANTHER:PTHR24264:SF59,PANTHER:PTHR24264 NA NA NA NA NA NA NA NA NA 0,0,1 NA NA NA NA MODERATE 1 SNV 5 NA 0,1,1 NA 1 . CCA . 53.6 1.592e-05 NA NA 9.929e-05 NA NA 1.76e-05 NA 3.266e-05 142751865 PRSS1 5645 . GRCh38 chr7 142752476 142752476 + Missense_Mutation SNP G G C rs1232891794 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.542G>C p.Ser181Thr p.S181T ENST00000486171 5/6 NA NA NA NA NA NA PRSS1,missense_variant,p.Ser167Thr,ENST00000311737,NM_002769.5;PRSS1,missense_variant,p.Ser181Thr,ENST00000486171,;PRSS1,missense_variant,p.Ser157Thr,ENST00000619214,;PRSS1,missense_variant,p.Ser117Thr,ENST00000492062,;PRSS1,non_coding_transcript_exon_variant,,ENST00000463701,;PRSS1,downstream_gene_variant,,ENST00000485223,;PRSS1,downstream_gene_variant,,ENST00000497041,; C ENSG00000204983 ENST00000486171 Transcript missense_variant 559/803 542/786 181/261 S/T aGc/aCc rs1232891794,COSV100297632 1 NA 1 PRSS1 HGNC HGNC:9475 protein_coding YES ENSP00000417854 E7EQ64.72 UPI0001B79292 tolerated(0.18) benign(0.015) 5/6 CDD:cd00190,Gene3D:2.40.10.10,Pfam:PF00089,SMART:SM00020,Superfamily:SSF50494,PROSITE_profiles:PS50240,PANTHER:PTHR24264:SF59,PANTHER:PTHR24264 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 5 NA 0,1 NA 1 . AGC . 1987.6 3.976e-06 NA NA NA NA 4.619e-05 NA NA NA 142752476 PRSS1 5645 . GRCh38 chr7 142752490 142752490 + Missense_Mutation SNP G G A rs758254763 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.556G>A p.Glu186Lys p.E186K ENST00000486171 5/6 NA NA NA NA NA NA PRSS1,missense_variant,p.Glu172Lys,ENST00000311737,NM_002769.5;PRSS1,missense_variant,p.Glu186Lys,ENST00000486171,;PRSS1,missense_variant,p.Glu162Lys,ENST00000619214,;PRSS1,missense_variant,p.Glu122Lys,ENST00000492062,;PRSS1,non_coding_transcript_exon_variant,,ENST00000463701,;PRSS1,downstream_gene_variant,,ENST00000485223,;PRSS1,downstream_gene_variant,,ENST00000497041,; A ENSG00000204983 ENST00000486171 Transcript missense_variant 573/803 556/786 186/261 E/K Gaa/Aaa rs758254763 1 NA 1 PRSS1 HGNC HGNC:9475 protein_coding YES ENSP00000417854 E7EQ64.72 UPI0001B79292 tolerated(0.61) benign(0.001) 5/6 CDD:cd00190,Gene3D:2.40.10.10,Pfam:PF00089,SMART:SM00020,Superfamily:SSF50494,PROSITE_profiles:PS50240,PANTHER:PTHR24264:SF59,PANTHER:PTHR24264 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA 1 . TGA . 2199.6 NA NA NA NA NA NA NA NA NA 142752490 PRSS1 5645 . GRCh38 chr7 142752505 142752505 + Nonsense_Mutation SNP G G T rs1240508430 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.571G>T p.Gly191Ter p.G191* ENST00000486171 5/6 NA NA NA NA NA NA PRSS1,stop_gained,p.Gly177Ter,ENST00000311737,NM_002769.5;PRSS1,stop_gained,p.Gly191Ter,ENST00000486171,;PRSS1,stop_gained,p.Gly167Ter,ENST00000619214,;PRSS1,stop_gained,p.Gly127Ter,ENST00000492062,;PRSS1,non_coding_transcript_exon_variant,,ENST00000463701,;PRSS1,downstream_gene_variant,,ENST00000485223,;PRSS1,downstream_gene_variant,,ENST00000497041,; T ENSG00000204983 ENST00000486171 Transcript stop_gained 588/803 571/786 191/261 G/* Gga/Tga rs1240508430 1 NA 1 PRSS1 HGNC HGNC:9475 protein_coding YES ENSP00000417854 E7EQ64.72 UPI0001B79292 5/6 CDD:cd00190,Gene3D:2.40.10.10,Pfam:PF00089,SMART:SM00020,Superfamily:SSF50494,PROSITE_profiles:PS50240,PANTHER:PTHR24264:SF59,PANTHER:PTHR24264 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 SNV 5 NA NA 1 . TGG . 2299.6 NA NA NA NA NA NA NA NA NA 142752505 PRSS1 5645 . GRCh38 chr7 142752506 142752506 + Missense_Mutation SNP G G T rs1468060476 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.572G>T p.Gly191Val p.G191V ENST00000486171 5/6 NA NA NA NA NA NA PRSS1,missense_variant,p.Gly177Val,ENST00000311737,NM_002769.5;PRSS1,missense_variant,p.Gly191Val,ENST00000486171,;PRSS1,missense_variant,p.Gly167Val,ENST00000619214,;PRSS1,missense_variant,p.Gly127Val,ENST00000492062,;PRSS1,non_coding_transcript_exon_variant,,ENST00000463701,;PRSS1,downstream_gene_variant,,ENST00000485223,;PRSS1,downstream_gene_variant,,ENST00000497041,; T ENSG00000204983 ENST00000486171 Transcript missense_variant 589/803 572/786 191/261 G/V gGa/gTa rs1468060476 1 NA 1 PRSS1 HGNC HGNC:9475 protein_coding YES ENSP00000417854 E7EQ64.72 UPI0001B79292 deleterious(0) benign(0.42) 5/6 CDD:cd00190,Gene3D:2.40.10.10,Pfam:PF00089,SMART:SM00020,Superfamily:SSF50494,PROSITE_profiles:PS50240,PANTHER:PTHR24264:SF59,PANTHER:PTHR24264 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA 1 . GGA . 2299.6 NA NA NA NA NA NA NA NA NA 142752506 PRSS1 5645 . GRCh38 chr7 142752522 142752522 + Missense_Mutation SNP C C G rs1348773645 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.588C>G p.Asn196Lys p.N196K ENST00000486171 5/6 NA NA NA NA NA NA PRSS1,missense_variant,p.Asn182Lys,ENST00000311737,NM_002769.5;PRSS1,missense_variant,p.Asn196Lys,ENST00000486171,;PRSS1,missense_variant,p.Asn172Lys,ENST00000619214,;PRSS1,missense_variant,p.Asn132Lys,ENST00000492062,;PRSS1,non_coding_transcript_exon_variant,,ENST00000463701,;PRSS1,downstream_gene_variant,,ENST00000485223,;PRSS1,downstream_gene_variant,,ENST00000497041,; G ENSG00000204983 ENST00000486171 Transcript missense_variant 605/803 588/786 196/261 N/K aaC/aaG rs1348773645 1 NA 1 PRSS1 HGNC HGNC:9475 protein_coding YES ENSP00000417854 E7EQ64.72 UPI0001B79292 deleterious(0.02) benign(0.427) 5/6 CDD:cd00190,Gene3D:2.40.10.10,Pfam:PF00089,SMART:SM00020,Superfamily:SSF50494,PROSITE_profiles:PS50240,PANTHER:PTHR24264:SF59,PANTHER:PTHR24264 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA 1 . ACA . 2560.6 NA NA NA NA NA NA NA NA NA 142752522 PRSS1 5645 . GRCh38 chr7 142752873 142752873 + Silent SNP T T C rs1307945104 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.639T>C p.Asp213= p.D213= ENST00000486171 6/6 NA NA NA NA NA NA PRSS1,synonymous_variant,p.Asp199=,ENST00000311737,NM_002769.5;PRSS1,synonymous_variant,p.Asp213=,ENST00000486171,;PRSS1,synonymous_variant,p.Asp189=,ENST00000619214,;PRSS1,3_prime_UTR_variant,,ENST00000492062,;PRSS1,non_coding_transcript_exon_variant,,ENST00000463701,;PRSS1,downstream_gene_variant,,ENST00000485223,;PRSS1,downstream_gene_variant,,ENST00000497041,; C ENSG00000204983 ENST00000486171 Transcript synonymous_variant 656/803 639/786 213/261 D gaT/gaC rs1307945104 1 NA 1 PRSS1 HGNC HGNC:9475 protein_coding YES ENSP00000417854 E7EQ64.72 UPI0001B79292 6/6 CDD:cd00190,Gene3D:2.40.10.10,Pfam:PF00089,SMART:SM00020,Superfamily:SSF50494,PROSITE_profiles:PS50240,PANTHER:PTHR24264:SF59,PANTHER:PTHR24264,PROSITE_patterns:PS00135,Prints:PR00722 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA 1 . ATT . 1433.6 3.977e-06 NA NA NA NA NA 8.792e-06 NA NA 142752873 PRSS1 5645 . GRCh38 chr7 142752906 142752906 + Silent SNP C C T rs760589518 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.672C>T p.Leu224= p.L224= ENST00000486171 6/6 NA NA NA NA NA NA PRSS1,synonymous_variant,p.Leu210=,ENST00000311737,NM_002769.5;PRSS1,synonymous_variant,p.Leu224=,ENST00000486171,;PRSS1,synonymous_variant,p.Leu200=,ENST00000619214,;PRSS1,3_prime_UTR_variant,,ENST00000492062,;PRSS1,non_coding_transcript_exon_variant,,ENST00000463701,;PRSS1,downstream_gene_variant,,ENST00000485223,;PRSS1,downstream_gene_variant,,ENST00000497041,; T ENSG00000204983 ENST00000486171 Transcript synonymous_variant 689/803 672/786 224/261 L ctC/ctT rs760589518,COSV61191988 1 NA 1 PRSS1 HGNC HGNC:9475 protein_coding YES ENSP00000417854 E7EQ64.72 UPI0001B79292 6/6 CDD:cd00190,Gene3D:2.40.10.10,Pfam:PF00089,SMART:SM00020,Superfamily:SSF50494,PROSITE_profiles:PS50240,PANTHER:PTHR24264:SF59,PANTHER:PTHR24264 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA LOW 1 SNV 5 NA 0,1 NA 1 . TCC . 487.6 3.977e-06 NA NA NA NA NA 8.791e-06 NA NA 142752906 PRSS1 5645 . GRCh38 chr7 142752913 142752913 + Missense_Mutation SNP G G A rs200902389 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.679G>A p.Val227Ile p.V227I ENST00000486171 6/6 NA NA NA NA NA NA PRSS1,missense_variant,p.Val213Ile,ENST00000311737,NM_002769.5;PRSS1,missense_variant,p.Val227Ile,ENST00000486171,;PRSS1,missense_variant,p.Val203Ile,ENST00000619214,;PRSS1,3_prime_UTR_variant,,ENST00000492062,;PRSS1,non_coding_transcript_exon_variant,,ENST00000463701,;PRSS1,downstream_gene_variant,,ENST00000485223,;PRSS1,downstream_gene_variant,,ENST00000497041,; A ENSG00000204983 ENST00000486171 Transcript missense_variant 696/803 679/786 227/261 V/I Gtt/Att rs200902389 1 NA 1 PRSS1 HGNC HGNC:9475 protein_coding YES ENSP00000417854 E7EQ64.72 UPI0001B79292 tolerated(1) benign(0.003) 6/6 CDD:cd00190,Gene3D:2.40.10.10,Pfam:PF00089,SMART:SM00020,Superfamily:SSF50494,PROSITE_profiles:PS50240,PANTHER:PTHR24264:SF59,PANTHER:PTHR24264 NA NA NA NA NA NA NA NA NA benign 29299148 NA NA NA NA MODERATE 1 SNV 5 NA 1 NA 1 . AGT . 346.6 1.607e-05 NA NA NA 0.0001106 NA 8.875e-06 NA 3.319e-05 142752913 PRSS2 0 . GRCh38 chr7 142772154 142772154 + Missense_Mutation SNP G G T rs776650417 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.146G>T p.Gly49Val p.G49V ENST00000633969 2/6 NA NA NA NA NA NA PRSS2,missense_variant,p.Gly49Val,ENST00000633969,NM_001303414.1;PRSS2,missense_variant,p.Gly49Val,ENST00000632998,;PRSS2,missense_variant,p.Gly49Val,ENST00000539842,NM_002770.4;PRSS2,missense_variant,p.Gly49Val,ENST00000632805,;PRSS2,upstream_gene_variant,,ENST00000618750,;PRSS2,non_coding_transcript_exon_variant,,ENST00000610835,;,regulatory_region_variant,,ENSR00001132643,; T ENSG00000275896 ENST00000633969 Transcript missense_variant 162/852 146/786 49/261 G/V gGt/gTt rs776650417 1 NA 1 PRSS2 HGNC HGNC:9483 protein_coding YES CCDS83235.1 ENSP00000488437 A6XMV9.88 UPI0001578AE2 NM_001303414.1 deleterious(0) probably_damaging(1) 2/6 CDD:cd00190,Pfam:PF00089,Gene3D:2.40.10.10,SMART:SM00020,Superfamily:SSF50494,PROSITE_profiles:PS50240,PANTHER:PTHR24264,PANTHER:PTHR24264:SF53,Prints:PR00722 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . GGT . 384.6 1.651e-05 NA NA NA NA NA 3.662e-05 NA NA 142772154 PRSS2 0 . GRCh38 chr7 142772166 142772166 + Missense_Mutation SNP T T A rs200790579 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.158T>A p.Ile53Asn p.I53N ENST00000633969 2/6 NA NA NA NA NA NA PRSS2,missense_variant,p.Ile53Asn,ENST00000633969,NM_001303414.1;PRSS2,missense_variant,p.Ile53Asn,ENST00000632998,;PRSS2,missense_variant,p.Ile53Asn,ENST00000539842,NM_002770.4;PRSS2,missense_variant,p.Ile53Asn,ENST00000632805,;PRSS2,non_coding_transcript_exon_variant,,ENST00000618750,;PRSS2,non_coding_transcript_exon_variant,,ENST00000610835,;,regulatory_region_variant,,ENSR00001132643,; A ENSG00000275896 ENST00000633969 Transcript missense_variant 174/852 158/786 53/261 I/N aTc/aAc rs200790579 1 NA 1 PRSS2 HGNC HGNC:9483 protein_coding YES CCDS83235.1 ENSP00000488437 A6XMV9.88 UPI0001578AE2 NM_001303414.1 deleterious(0) probably_damaging(0.998) 2/6 CDD:cd00190,Pfam:PF00089,Gene3D:2.40.10.10,SMART:SM00020,Superfamily:SSF50494,PROSITE_profiles:PS50240,PANTHER:PTHR24264,PANTHER:PTHR24264:SF53,Prints:PR00722 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . ATC . 540.6 1.3e-05 NA NA NA NA NA 1.928e-05 NA 3.471e-05 142772166 PRSS2 0 . GRCh38 chr7 142772170 142772170 + Missense_Mutation SNP C C G rs201784749 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.162C>G p.Ser54Arg p.S54R ENST00000633969 2/6 NA NA NA NA NA NA PRSS2,missense_variant,p.Ser54Arg,ENST00000633969,NM_001303414.1;PRSS2,missense_variant,p.Ser54Arg,ENST00000632998,;PRSS2,missense_variant,p.Ser54Arg,ENST00000539842,NM_002770.4;PRSS2,missense_variant,p.Ser54Arg,ENST00000632805,;PRSS2,non_coding_transcript_exon_variant,,ENST00000618750,;PRSS2,non_coding_transcript_exon_variant,,ENST00000610835,;,regulatory_region_variant,,ENSR00001132643,; G ENSG00000275896 ENST00000633969 Transcript missense_variant 178/852 162/786 54/261 S/R agC/agG rs201784749 1 NA 1 PRSS2 HGNC HGNC:9483 protein_coding YES CCDS83235.1 ENSP00000488437 A6XMV9.88 UPI0001578AE2 NM_001303414.1 deleterious(0.02) benign(0.066) 2/6 CDD:cd00190,Pfam:PF00089,Gene3D:2.40.10.10,SMART:SM00020,Superfamily:SSF50494,PROSITE_profiles:PS50240,PANTHER:PTHR24264,PANTHER:PTHR24264:SF53,Prints:PR00722 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . GCG . 568.6 8.898e-06 NA NA NA NA NA 1.983e-05 NA NA 142772170 PRSS2 0 . GRCh38 chr7 142772193 142772193 + Missense_Mutation SNP G G C rs200815151 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.185G>C p.Gly62Ala p.G62A ENST00000633969 2/6 NA NA NA NA NA NA PRSS2,missense_variant,p.Gly62Ala,ENST00000633969,NM_001303414.1;PRSS2,missense_variant,p.Gly62Ala,ENST00000632998,;PRSS2,missense_variant,p.Gly62Ala,ENST00000539842,NM_002770.4;PRSS2,missense_variant,p.Gly62Ala,ENST00000632805,;PRSS2,non_coding_transcript_exon_variant,,ENST00000618750,;PRSS2,non_coding_transcript_exon_variant,,ENST00000610835,;,regulatory_region_variant,,ENSR00001132643,; C ENSG00000275896 ENST00000633969 Transcript missense_variant 201/852 185/786 62/261 G/A gGt/gCt rs200815151,COSV52102665 1 NA 1 PRSS2 HGNC HGNC:9483 protein_coding YES CCDS83235.1 ENSP00000488437 A6XMV9.88 UPI0001578AE2 NM_001303414.1 tolerated(1) benign(0) 2/6 CDD:cd00190,Pfam:PF00089,Gene3D:2.40.10.10,SMART:SM00020,Superfamily:SSF50494,PROSITE_profiles:PS50240,PANTHER:PTHR24264,PANTHER:PTHR24264:SF53,PROSITE_patterns:PS00134,Prints:PR00722 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 1 NA 0,1 NA 1 . GGT . 781.6 4.944e-05 0.0001387 NA NA NA 5.386e-05 6.044e-05 NA 7.177e-05 142772193 PRSS2 0 . GRCh38 chr7 142772207 142772207 + Missense_Mutation SNP T T C rs201659809 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.199T>C p.Ser67Pro p.S67P ENST00000633969 2/6 NA NA NA NA NA NA PRSS2,missense_variant,p.Ser67Pro,ENST00000633969,NM_001303414.1;PRSS2,missense_variant,p.Ser67Pro,ENST00000632998,;PRSS2,missense_variant,p.Ser67Pro,ENST00000539842,NM_002770.4;PRSS2,missense_variant,p.Ser67Pro,ENST00000632805,;PRSS2,splice_region_variant,,ENST00000618750,;PRSS2,non_coding_transcript_exon_variant,,ENST00000610835,;,regulatory_region_variant,,ENSR00001132643,; C ENSG00000275896 ENST00000633969 Transcript missense_variant,splice_region_variant 215/852 199/786 67/261 S/P Tcg/Ccg rs201659809 1 NA 1 PRSS2 HGNC HGNC:9483 protein_coding YES CCDS83235.1 ENSP00000488437 A6XMV9.88 UPI0001578AE2 NM_001303414.1 tolerated(0.42) benign(0.003) 2/6 CDD:cd00190,Pfam:PF00089,SMART:SM00020,Superfamily:SSF50494,PROSITE_profiles:PS50240,PANTHER:PTHR24264,PANTHER:PTHR24264:SF53 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . GTC . 1609.6 NA NA NA NA NA NA NA NA NA 142772207 PRSS2 0 . GRCh38 chr7 142773267 142773267 + Missense_Mutation SNP C C T rs762157233 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.244C>T p.Arg82Cys p.R82C ENST00000633969 4/6 NA NA NA NA NA NA PRSS2,missense_variant,p.Arg82Cys,ENST00000633969,NM_001303414.1;PRSS2,missense_variant,p.Arg68Cys,ENST00000632998,;PRSS2,missense_variant,p.Arg68Cys,ENST00000539842,NM_002770.4;PRSS2,missense_variant,p.Arg82Cys,ENST00000632805,;PRSS2,splice_region_variant,,ENST00000618750,;PRSS2,downstream_gene_variant,,ENST00000610835,; T ENSG00000275896 ENST00000633969 Transcript missense_variant,splice_region_variant 260/852 244/786 82/261 R/C Cgc/Tgc rs762157233 1 NA 1 PRSS2 HGNC HGNC:9483 protein_coding YES CCDS83235.1 ENSP00000488437 A6XMV9.88 UPI0001578AE2 NM_001303414.1 deleterious(0) benign(0.074) 4/6 CDD:cd00190,Pfam:PF00089,Gene3D:2.40.10.10,SMART:SM00020,Superfamily:SSF50494,PROSITE_profiles:PS50240,PANTHER:PTHR24264,PANTHER:PTHR24264:SF53 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . CCG . 211.6 NA NA NA NA NA NA NA NA NA 142773267 PRSS2 0 . GRCh38 chr7 142773308 142773308 + Silent SNP G G A rs765351618 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.285G>A p.Leu95= p.L95= ENST00000633969 4/6 NA NA NA NA NA NA PRSS2,synonymous_variant,p.Leu95=,ENST00000633969,NM_001303414.1;PRSS2,synonymous_variant,p.Leu81=,ENST00000632998,;PRSS2,synonymous_variant,p.Leu81=,ENST00000539842,NM_002770.4;PRSS2,synonymous_variant,p.Leu95=,ENST00000632805,;PRSS2,non_coding_transcript_exon_variant,,ENST00000618750,;PRSS2,downstream_gene_variant,,ENST00000610835,; A ENSG00000275896 ENST00000633969 Transcript synonymous_variant 301/852 285/786 95/261 L ctG/ctA rs765351618 1 NA 1 PRSS2 HGNC HGNC:9483 protein_coding YES CCDS83235.1 ENSP00000488437 A6XMV9.88 UPI0001578AE2 NM_001303414.1 4/6 CDD:cd00190,Pfam:PF00089,Gene3D:2.40.10.10,SMART:SM00020,Superfamily:SSF50494,PROSITE_profiles:PS50240,PANTHER:PTHR24264,PANTHER:PTHR24264:SF53 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . TGG . 1504.6 NA NA NA NA NA NA NA NA NA 142773308 PRSS2 0 . GRCh38 chr7 142773330 142773330 + Missense_Mutation SNP A A T rs755933499 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.307A>T p.Asn103Tyr p.N103Y ENST00000633969 4/6 NA NA NA NA NA NA PRSS2,missense_variant,p.Asn103Tyr,ENST00000633969,NM_001303414.1;PRSS2,missense_variant,p.Asn89Tyr,ENST00000632998,;PRSS2,missense_variant,p.Asn89Tyr,ENST00000539842,NM_002770.4;PRSS2,missense_variant,p.Asn103Tyr,ENST00000632805,;PRSS2,non_coding_transcript_exon_variant,,ENST00000618750,;PRSS2,downstream_gene_variant,,ENST00000610835,; T ENSG00000275896 ENST00000633969 Transcript missense_variant 323/852 307/786 103/261 N/Y Aat/Tat rs755933499 1 NA 1 PRSS2 HGNC HGNC:9483 protein_coding YES CCDS83235.1 ENSP00000488437 A6XMV9.88 UPI0001578AE2 NM_001303414.1 tolerated(0.08) possibly_damaging(0.629) 4/6 CDD:cd00190,Pfam:PF00089,Gene3D:2.40.10.10,SMART:SM00020,Superfamily:SSF50494,PROSITE_profiles:PS50240,PANTHER:PTHR24264,PANTHER:PTHR24264:SF53 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . CAA . 1707.6 NA NA NA NA NA NA NA NA NA 142773330 PRSS2 0 . GRCh38 chr7 142773335 142773335 + Silent SNP G G A rs13583 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.312G>A p.Ala104= p.A104= ENST00000633969 4/6 NA NA NA NA NA NA PRSS2,synonymous_variant,p.Ala104=,ENST00000633969,NM_001303414.1;PRSS2,synonymous_variant,p.Ala90=,ENST00000632998,;PRSS2,synonymous_variant,p.Ala90=,ENST00000539842,NM_002770.4;PRSS2,synonymous_variant,p.Ala104=,ENST00000632805,;PRSS2,non_coding_transcript_exon_variant,,ENST00000618750,;PRSS2,downstream_gene_variant,,ENST00000610835,; A ENSG00000275896 ENST00000633969 Transcript synonymous_variant 328/852 312/786 104/261 A gcG/gcA rs13583 1 NA 1 PRSS2 HGNC HGNC:9483 protein_coding YES CCDS83235.1 ENSP00000488437 A6XMV9.88 UPI0001578AE2 NM_001303414.1 4/6 CDD:cd00190,Pfam:PF00089,Gene3D:2.40.10.10,SMART:SM00020,Superfamily:SSF50494,PROSITE_profiles:PS50240,PANTHER:PTHR24264,PANTHER:PTHR24264:SF53 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . CGG . 4099.6 NA NA NA NA NA NA NA NA NA 142773335 PRSS2 0 . GRCh38 chr7 142773337 142773337 + Missense_Mutation SNP C C T rs768157031 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.314C>T p.Ala105Val p.A105V ENST00000633969 4/6 NA NA NA NA NA NA PRSS2,missense_variant,p.Ala105Val,ENST00000633969,NM_001303414.1;PRSS2,missense_variant,p.Ala91Val,ENST00000632998,;PRSS2,missense_variant,p.Ala91Val,ENST00000539842,NM_002770.4;PRSS2,missense_variant,p.Ala105Val,ENST00000632805,;PRSS2,non_coding_transcript_exon_variant,,ENST00000618750,;PRSS2,downstream_gene_variant,,ENST00000610835,; T ENSG00000275896 ENST00000633969 Transcript missense_variant 330/852 314/786 105/261 A/V gCc/gTc rs768157031 1 NA 1 PRSS2 HGNC HGNC:9483 protein_coding YES CCDS83235.1 ENSP00000488437 A6XMV9.88 UPI0001578AE2 NM_001303414.1 tolerated(0.2) benign(0.034) 4/6 CDD:cd00190,Pfam:PF00089,Gene3D:2.40.10.10,SMART:SM00020,Superfamily:SSF50494,PROSITE_profiles:PS50240,PANTHER:PTHR24264,PANTHER:PTHR24264:SF53 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . GCC . 1650.6 NA NA NA NA NA NA NA NA NA 142773337 PRSS2 0 . GRCh38 chr7 142773369 142773369 + Missense_Mutation SNP C C T rs765441195 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.346C>T p.Arg116Trp p.R116W ENST00000633969 4/6 NA NA NA NA NA NA PRSS2,missense_variant,p.Arg116Trp,ENST00000633969,NM_001303414.1;PRSS2,missense_variant,p.Arg102Trp,ENST00000632998,;PRSS2,missense_variant,p.Arg102Trp,ENST00000539842,NM_002770.4;PRSS2,missense_variant,p.Arg116Trp,ENST00000632805,;PRSS2,non_coding_transcript_exon_variant,,ENST00000618750,;PRSS2,downstream_gene_variant,,ENST00000610835,; T ENSG00000275896 ENST00000633969 Transcript missense_variant 362/852 346/786 116/261 R/W Cgg/Tgg rs765441195 1 NA 1 PRSS2 HGNC HGNC:9483 protein_coding YES CCDS83235.1 ENSP00000488437 A6XMV9.88 UPI0001578AE2 NM_001303414.1 tolerated(0.36) benign(0) 4/6 CDD:cd00190,Pfam:PF00089,Gene3D:2.40.10.10,SMART:SM00020,Superfamily:SSF50494,PROSITE_profiles:PS50240,PANTHER:PTHR24264,PANTHER:PTHR24264:SF53 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . CCG . 400.6 NA NA NA NA NA NA NA NA NA 142773369 PRSS2 0 . GRCh38 chr7 142773408 142773408 + Missense_Mutation SNP T T A rs771611363 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.385T>A p.Ser129Thr p.S129T ENST00000633969 4/6 NA NA NA NA NA NA PRSS2,missense_variant,p.Ser129Thr,ENST00000633969,NM_001303414.1;PRSS2,missense_variant,p.Ser115Thr,ENST00000632998,;PRSS2,missense_variant,p.Ser115Thr,ENST00000539842,NM_002770.4;PRSS2,missense_variant,p.Ser129Thr,ENST00000632805,;PRSS2,non_coding_transcript_exon_variant,,ENST00000618750,;PRSS2,downstream_gene_variant,,ENST00000610835,; A ENSG00000275896 ENST00000633969 Transcript missense_variant 401/852 385/786 129/261 S/T Tca/Aca rs771611363 1 NA 1 PRSS2 HGNC HGNC:9483 protein_coding YES CCDS83235.1 ENSP00000488437 A6XMV9.88 UPI0001578AE2 NM_001303414.1 tolerated(0.56) benign(0.001) 4/6 CDD:cd00190,Pfam:PF00089,Gene3D:2.40.10.10,SMART:SM00020,Superfamily:SSF50494,PROSITE_profiles:PS50240,PANTHER:PTHR24264,PANTHER:PTHR24264:SF53,Prints:PR00722 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . CTC . 2328.6 NA NA NA NA NA NA NA NA NA 142773408 PRSS2 0 . GRCh38 chr7 142773417 142773417 + Missense_Mutation SNP G G A rs201787957 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.394G>A p.Val132Ile p.V132I ENST00000633969 4/6 NA NA NA NA NA NA PRSS2,missense_variant,p.Val132Ile,ENST00000633969,NM_001303414.1;PRSS2,missense_variant,p.Val118Ile,ENST00000632998,;PRSS2,missense_variant,p.Val118Ile,ENST00000539842,NM_002770.4;PRSS2,missense_variant,p.Val132Ile,ENST00000632805,;PRSS2,non_coding_transcript_exon_variant,,ENST00000618750,;PRSS2,downstream_gene_variant,,ENST00000610835,; A ENSG00000275896 ENST00000633969 Transcript missense_variant 410/852 394/786 132/261 V/I Gtc/Atc rs201787957 1 NA 1 PRSS2 HGNC HGNC:9483 protein_coding YES CCDS83235.1 ENSP00000488437 A6XMV9.88 UPI0001578AE2 NM_001303414.1 tolerated(0.14) benign(0) 4/6 CDD:cd00190,Pfam:PF00089,Gene3D:2.40.10.10,SMART:SM00020,Superfamily:SSF50494,PROSITE_profiles:PS50240,PANTHER:PTHR24264,PANTHER:PTHR24264:SF53 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . CGT . 192.6 NA NA NA NA NA NA NA NA NA 142773417 PRSS2 0 . GRCh38 chr7 142773426 142773426 + Missense_Mutation SNP T T G rs762999760 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.403T>G p.Ser135Ala p.S135A ENST00000633969 4/6 NA NA NA NA NA NA PRSS2,missense_variant,p.Ser135Ala,ENST00000633969,NM_001303414.1;PRSS2,missense_variant,p.Ser121Ala,ENST00000632998,;PRSS2,missense_variant,p.Ser121Ala,ENST00000539842,NM_002770.4;PRSS2,missense_variant,p.Ser135Ala,ENST00000632805,;PRSS2,non_coding_transcript_exon_variant,,ENST00000618750,;PRSS2,downstream_gene_variant,,ENST00000610835,; G ENSG00000275896 ENST00000633969 Transcript missense_variant 419/852 403/786 135/261 S/A Tcc/Gcc rs762999760 1 NA 1 PRSS2 HGNC HGNC:9483 protein_coding YES CCDS83235.1 ENSP00000488437 A6XMV9.88 UPI0001578AE2 NM_001303414.1 tolerated(0.55) benign(0.013) 4/6 CDD:cd00190,Pfam:PF00089,Gene3D:2.40.10.10,SMART:SM00020,Superfamily:SSF50494,PROSITE_profiles:PS50240,PANTHER:PTHR24264,PANTHER:PTHR24264:SF53 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . TTC . 2382.6 NA NA NA NA NA NA NA NA NA 142773426 PRSS2 0 . GRCh38 chr7 142773430 142773430 + Missense_Mutation SNP G G A rs764176833 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.407G>A p.Arg136His p.R136H ENST00000633969 4/6 NA NA NA NA NA NA PRSS2,missense_variant,p.Arg136His,ENST00000633969,NM_001303414.1;PRSS2,missense_variant,p.Arg122His,ENST00000632998,;PRSS2,missense_variant,p.Arg122His,ENST00000539842,NM_002770.4;PRSS2,missense_variant,p.Arg136His,ENST00000632805,;PRSS2,non_coding_transcript_exon_variant,,ENST00000618750,;PRSS2,downstream_gene_variant,,ENST00000610835,; A ENSG00000275896 ENST00000633969 Transcript missense_variant 423/852 407/786 136/261 R/H cGc/cAc rs764176833 1 NA 1 PRSS2 HGNC HGNC:9483 protein_coding YES CCDS83235.1 ENSP00000488437 A6XMV9.88 UPI0001578AE2 NM_001303414.1 tolerated(0.4) benign(0.001) 4/6 CDD:cd00190,Pfam:PF00089,Gene3D:2.40.10.10,SMART:SM00020,Superfamily:SSF50494,PROSITE_profiles:PS50240,PANTHER:PTHR24264,PANTHER:PTHR24264:SF53 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . CGC . 2229.6 NA NA NA NA NA NA NA NA NA 142773430 PRSS2 0 . GRCh38 chr7 142773431 142773431 + Silent SNP C C T rs750328915 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.408C>T p.Arg136= p.R136= ENST00000633969 4/6 NA NA NA NA NA NA PRSS2,splice_region_variant,p.Arg136=,ENST00000632805,;PRSS2,synonymous_variant,p.Arg136=,ENST00000633969,NM_001303414.1;PRSS2,synonymous_variant,p.Arg122=,ENST00000632998,;PRSS2,synonymous_variant,p.Arg122=,ENST00000539842,NM_002770.4;PRSS2,non_coding_transcript_exon_variant,,ENST00000618750,;PRSS2,downstream_gene_variant,,ENST00000610835,; T ENSG00000275896 ENST00000633969 Transcript synonymous_variant 424/852 408/786 136/261 R cgC/cgT rs750328915 1 NA 1 PRSS2 HGNC HGNC:9483 protein_coding YES CCDS83235.1 ENSP00000488437 A6XMV9.88 UPI0001578AE2 NM_001303414.1 4/6 CDD:cd00190,Pfam:PF00089,Gene3D:2.40.10.10,SMART:SM00020,Superfamily:SSF50494,PROSITE_profiles:PS50240,PANTHER:PTHR24264,PANTHER:PTHR24264:SF53 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . GCG . 2309.6 NA NA NA NA NA NA NA NA NA 142773431 PRSS2 0 . GRCh38 chr7 142773438 142773438 + Missense_Mutation SNP G G A rs200064853 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.415G>A p.Ala139Thr p.A139T ENST00000633969 4/6 NA NA NA NA NA NA PRSS2,missense_variant,p.Ala139Thr,ENST00000633969,NM_001303414.1;PRSS2,missense_variant,p.Ala125Thr,ENST00000632998,;PRSS2,missense_variant,p.Ala125Thr,ENST00000539842,NM_002770.4;PRSS2,splice_region_variant,,ENST00000632805,;PRSS2,non_coding_transcript_exon_variant,,ENST00000618750,;PRSS2,downstream_gene_variant,,ENST00000610835,; A ENSG00000275896 ENST00000633969 Transcript missense_variant 431/852 415/786 139/261 A/T Gcc/Acc rs200064853 1 NA 1 PRSS2 HGNC HGNC:9483 protein_coding YES CCDS83235.1 ENSP00000488437 A6XMV9.88 UPI0001578AE2 NM_001303414.1 tolerated(0.87) benign(0) 4/6 CDD:cd00190,Pfam:PF00089,Gene3D:2.40.10.10,SMART:SM00020,Superfamily:SSF50494,PROSITE_profiles:PS50240,PANTHER:PTHR24264,PANTHER:PTHR24264:SF53 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . CGC . 1956.6 NA NA NA NA NA NA NA NA NA 142773438 PRSS2 0 . GRCh38 chr7 142773481 142773481 + Missense_Mutation SNP C C G rs199956768 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.458C>G p.Ser153Cys p.S153C ENST00000633969 4/6 NA NA NA NA NA NA PRSS2,missense_variant,p.Ser153Cys,ENST00000633969,NM_001303414.1;PRSS2,missense_variant,p.Ser139Cys,ENST00000632998,;PRSS2,missense_variant,p.Ser139Cys,ENST00000539842,NM_002770.4;PRSS2,missense_variant,p.Ser138Cys,ENST00000632805,;PRSS2,non_coding_transcript_exon_variant,,ENST00000618750,;PRSS2,downstream_gene_variant,,ENST00000610835,; G ENSG00000275896 ENST00000633969 Transcript missense_variant 474/852 458/786 153/261 S/C tCc/tGc rs199956768 1 NA 1 PRSS2 HGNC HGNC:9483 protein_coding YES CCDS83235.1 ENSP00000488437 A6XMV9.88 UPI0001578AE2 NM_001303414.1 tolerated(1) benign(0) 4/6 CDD:cd00190,Pfam:PF00089,Gene3D:2.40.10.10,SMART:SM00020,Superfamily:SSF50494,PROSITE_profiles:PS50240,PANTHER:PTHR24264,PANTHER:PTHR24264:SF53 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . TCC . 1108.6 NA NA NA NA NA NA NA NA NA 142773481 PRSS2 0 . GRCh38 chr7 142773485 142773485 + Silent SNP C C T rs200370045 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.462C>T p.Leu154= p.L154= ENST00000633969 4/6 NA NA NA NA NA NA PRSS2,synonymous_variant,p.Leu154=,ENST00000633969,NM_001303414.1;PRSS2,synonymous_variant,p.Leu140=,ENST00000632998,;PRSS2,synonymous_variant,p.Leu140=,ENST00000539842,NM_002770.4;PRSS2,synonymous_variant,p.Leu139=,ENST00000632805,;PRSS2,non_coding_transcript_exon_variant,,ENST00000618750,;PRSS2,downstream_gene_variant,,ENST00000610835,; T ENSG00000275896 ENST00000633969 Transcript synonymous_variant 478/852 462/786 154/261 L ctC/ctT rs200370045 1 NA 1 PRSS2 HGNC HGNC:9483 protein_coding YES CCDS83235.1 ENSP00000488437 A6XMV9.88 UPI0001578AE2 NM_001303414.1 4/6 CDD:cd00190,Pfam:PF00089,Gene3D:2.40.10.10,SMART:SM00020,Superfamily:SSF50494,PROSITE_profiles:PS50240,PANTHER:PTHR24264,PANTHER:PTHR24264:SF53 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . TCA . 702.6 NA NA NA NA NA NA NA NA NA 142773485 PRSS2 0 . GRCh38 chr7 142773503 142773503 + Silent SNP C C T rs759388404 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.480C>T p.Asn160= p.N160= ENST00000633969 4/6 NA NA NA NA NA NA PRSS2,synonymous_variant,p.Asn160=,ENST00000633969,NM_001303414.1;PRSS2,synonymous_variant,p.Asn146=,ENST00000632998,;PRSS2,synonymous_variant,p.Asn146=,ENST00000539842,NM_002770.4;PRSS2,synonymous_variant,p.Asn145=,ENST00000632805,;PRSS2,non_coding_transcript_exon_variant,,ENST00000618750,;PRSS2,downstream_gene_variant,,ENST00000610835,; T ENSG00000275896 ENST00000633969 Transcript synonymous_variant 496/852 480/786 160/261 N aaC/aaT rs759388404 1 NA 1 PRSS2 HGNC HGNC:9483 protein_coding YES CCDS83235.1 ENSP00000488437 A6XMV9.88 UPI0001578AE2 NM_001303414.1 4/6 CDD:cd00190,Pfam:PF00089,Gene3D:2.40.10.10,SMART:SM00020,Superfamily:SSF50494,PROSITE_profiles:PS50240,PANTHER:PTHR24264,PANTHER:PTHR24264:SF53 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . ACA . 473.6 NA NA NA NA NA NA NA NA NA 142773503 PRSS2 0 . GRCh38 chr7 142773506 142773506 + Silent SNP T T C rs752297298 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.483T>C p.Thr161= p.T161= ENST00000633969 4/6 NA NA NA NA NA NA PRSS2,synonymous_variant,p.Thr161=,ENST00000633969,NM_001303414.1;PRSS2,synonymous_variant,p.Thr147=,ENST00000632998,;PRSS2,synonymous_variant,p.Thr147=,ENST00000539842,NM_002770.4;PRSS2,synonymous_variant,p.Thr146=,ENST00000632805,;PRSS2,non_coding_transcript_exon_variant,,ENST00000618750,;PRSS2,downstream_gene_variant,,ENST00000610835,; C ENSG00000275896 ENST00000633969 Transcript synonymous_variant 499/852 483/786 161/261 T acT/acC rs752297298 1 NA 1 PRSS2 HGNC HGNC:9483 protein_coding YES CCDS83235.1 ENSP00000488437 A6XMV9.88 UPI0001578AE2 NM_001303414.1 4/6 CDD:cd00190,Pfam:PF00089,Gene3D:2.40.10.10,SMART:SM00020,Superfamily:SSF50494,PROSITE_profiles:PS50240,PANTHER:PTHR24264,PANTHER:PTHR24264:SF53 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . CTC . 392.6 NA NA NA NA NA NA NA NA NA 142773506 PRSS2 0 . GRCh38 chr7 142773512 142773512 + Silent SNP T T C rs758029444 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.489T>C p.Ser163= p.S163= ENST00000633969 4/6 NA NA NA NA NA NA PRSS2,synonymous_variant,p.Ser163=,ENST00000633969,NM_001303414.1;PRSS2,synonymous_variant,p.Ser149=,ENST00000632998,;PRSS2,synonymous_variant,p.Ser149=,ENST00000539842,NM_002770.4;PRSS2,synonymous_variant,p.Ser148=,ENST00000632805,;PRSS2,non_coding_transcript_exon_variant,,ENST00000618750,;PRSS2,downstream_gene_variant,,ENST00000610835,; C ENSG00000275896 ENST00000633969 Transcript synonymous_variant 505/852 489/786 163/261 S agT/agC rs758029444 1 NA 1 PRSS2 HGNC HGNC:9483 protein_coding YES CCDS83235.1 ENSP00000488437 A6XMV9.88 UPI0001578AE2 NM_001303414.1 4/6 CDD:cd00190,Gene3D:2.40.10.10,Pfam:PF00089,SMART:SM00020,Superfamily:SSF50494,PROSITE_profiles:PS50240,PANTHER:PTHR24264,PANTHER:PTHR24264:SF53 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . GTT . 386.6 NA NA NA NA NA NA NA NA NA 142773512 PRSS2 0 . GRCh38 chr7 142773515 142773515 + Silent SNP T T A rs73740310,rs910908593 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.492T>A p.Ser164= p.S164= ENST00000633969 4/6 NA NA NA NA NA NA PRSS2,synonymous_variant,p.Ser164=,ENST00000633969,NM_001303414.1;PRSS2,synonymous_variant,p.Ser150=,ENST00000632998,;PRSS2,synonymous_variant,p.Ser150=,ENST00000539842,NM_002770.4;PRSS2,synonymous_variant,p.Ser149=,ENST00000632805,;PRSS2,non_coding_transcript_exon_variant,,ENST00000618750,;PRSS2,downstream_gene_variant,,ENST00000610835,; A ENSG00000275896 ENST00000633969 Transcript synonymous_variant 508/852 492/786 164/261 S tcT/tcA rs73740310,rs910908593 1 NA 1 PRSS2 HGNC HGNC:9483 protein_coding YES CCDS83235.1 ENSP00000488437 A6XMV9.88 UPI0001578AE2 NM_001303414.1 4/6 CDD:cd00190,Gene3D:2.40.10.10,Pfam:PF00089,SMART:SM00020,Superfamily:SSF50494,PROSITE_profiles:PS50240,PANTHER:PTHR24264,PANTHER:PTHR24264:SF53 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA 1,0 NA 1 . CTG . 398.6 NA NA NA NA NA NA NA NA NA 142773515 PRSS2 0 . GRCh38 chr7 142773518 142773518 + Splice_Region SNP T T G rs781778785 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.495T>G p.Gly165= p.G165= ENST00000633969 4/6 NA NA NA NA NA NA PRSS2,splice_region_variant,p.Gly165=,ENST00000633969,NM_001303414.1;PRSS2,splice_region_variant,p.Gly151=,ENST00000632998,;PRSS2,splice_region_variant,p.Gly151=,ENST00000539842,NM_002770.4;PRSS2,splice_region_variant,p.Gly150=,ENST00000632805,;PRSS2,splice_region_variant,,ENST00000618750,;PRSS2,downstream_gene_variant,,ENST00000610835,; G ENSG00000275896 ENST00000633969 Transcript splice_region_variant,synonymous_variant 511/852 495/786 165/261 G ggT/ggG rs781778785 1 NA 1 PRSS2 HGNC HGNC:9483 protein_coding YES CCDS83235.1 ENSP00000488437 A6XMV9.88 UPI0001578AE2 NM_001303414.1 4/6 CDD:cd00190,Gene3D:2.40.10.10,Pfam:PF00089,SMART:SM00020,Superfamily:SSF50494,PROSITE_profiles:PS50240,PANTHER:PTHR24264,PANTHER:PTHR24264:SF53 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . GTG . 378.6 NA NA NA NA NA NA NA NA NA 142773518 PRSS2 0 . GRCh38 chr7 142773976 142773976 + Missense_Mutation SNP G G A rs930218821 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.554G>A p.Cys185Tyr p.C185Y ENST00000633969 5/6 NA NA NA NA NA NA PRSS2,missense_variant,p.Cys185Tyr,ENST00000633969,NM_001303414.1;PRSS2,missense_variant,p.Cys171Tyr,ENST00000632998,;PRSS2,missense_variant,p.Cys171Tyr,ENST00000539842,NM_002770.4;PRSS2,missense_variant,p.Cys170Tyr,ENST00000632805,;PRSS2,non_coding_transcript_exon_variant,,ENST00000618750,;PRSS2,downstream_gene_variant,,ENST00000610835,;WBP1LP1,downstream_gene_variant,,ENST00000460451,; A ENSG00000275896 ENST00000633969 Transcript missense_variant 570/852 554/786 185/261 C/Y tGt/tAt rs930218821 1 NA 1 PRSS2 HGNC HGNC:9483 protein_coding YES CCDS83235.1 ENSP00000488437 A6XMV9.88 UPI0001578AE2 NM_001303414.1 deleterious(0) probably_damaging(1) 5/6 CDD:cd00190,Gene3D:2.40.10.10,Pfam:PF00089,SMART:SM00020,Superfamily:SSF50494,PROSITE_profiles:PS50240,PANTHER:PTHR24264,PANTHER:PTHR24264:SF53 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . TGT . 2184.6 NA NA NA NA NA NA NA NA NA 142773976 PRSS2 0 . GRCh38 chr7 142774011 142774011 + Missense_Mutation SNP A A G rs1345797827 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.589A>G p.Met197Val p.M197V ENST00000633969 5/6 NA NA NA NA NA NA PRSS2,missense_variant,p.Met197Val,ENST00000633969,NM_001303414.1;PRSS2,missense_variant,p.Met183Val,ENST00000632998,;PRSS2,missense_variant,p.Met183Val,ENST00000539842,NM_002770.4;PRSS2,missense_variant,p.Met182Val,ENST00000632805,;PRSS2,non_coding_transcript_exon_variant,,ENST00000618750,;PRSS2,downstream_gene_variant,,ENST00000610835,;WBP1LP1,downstream_gene_variant,,ENST00000460451,; G ENSG00000275896 ENST00000633969 Transcript missense_variant 605/852 589/786 197/261 M/V Atg/Gtg rs1345797827 1 NA 1 PRSS2 HGNC HGNC:9483 protein_coding YES CCDS83235.1 ENSP00000488437 A6XMV9.88 UPI0001578AE2 NM_001303414.1 deleterious(0) probably_damaging(0.921) 5/6 CDD:cd00190,Gene3D:2.40.10.10,Pfam:PF00089,SMART:SM00020,Superfamily:SSF50494,PROSITE_profiles:PS50240,PANTHER:PTHR24264,PANTHER:PTHR24264:SF53 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . CAT . 3249.6 NA NA NA NA NA NA NA NA NA 142774011 PRSS2 0 . GRCh38 chr7 142774016 142774016 + Silent SNP C C T rs1422841991 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.594C>T p.Phe198= p.F198= ENST00000633969 5/6 NA NA NA NA NA NA PRSS2,synonymous_variant,p.Phe198=,ENST00000633969,NM_001303414.1;PRSS2,synonymous_variant,p.Phe184=,ENST00000632998,;PRSS2,synonymous_variant,p.Phe184=,ENST00000539842,NM_002770.4;PRSS2,synonymous_variant,p.Phe183=,ENST00000632805,;PRSS2,non_coding_transcript_exon_variant,,ENST00000618750,;PRSS2,downstream_gene_variant,,ENST00000610835,;WBP1LP1,downstream_gene_variant,,ENST00000460451,; T ENSG00000275896 ENST00000633969 Transcript synonymous_variant 610/852 594/786 198/261 F ttC/ttT rs1422841991 1 NA 1 PRSS2 HGNC HGNC:9483 protein_coding YES CCDS83235.1 ENSP00000488437 A6XMV9.88 UPI0001578AE2 NM_001303414.1 5/6 CDD:cd00190,Gene3D:2.40.10.10,Pfam:PF00089,SMART:SM00020,Superfamily:SSF50494,PROSITE_profiles:PS50240,PANTHER:PTHR24264,PANTHER:PTHR24264:SF53 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . TCT . 3211.6 NA NA NA NA NA NA NA NA NA 142774016 PRSS2 0 . GRCh38 chr7 142774025 142774025 + Silent SNP C C T rs1271039281 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.603C>T p.Gly201= p.G201= ENST00000633969 5/6 NA NA NA NA NA NA PRSS2,synonymous_variant,p.Gly201=,ENST00000633969,NM_001303414.1;PRSS2,synonymous_variant,p.Gly187=,ENST00000632998,;PRSS2,synonymous_variant,p.Gly187=,ENST00000539842,NM_002770.4;PRSS2,synonymous_variant,p.Gly186=,ENST00000632805,;PRSS2,non_coding_transcript_exon_variant,,ENST00000618750,;PRSS2,downstream_gene_variant,,ENST00000610835,;WBP1LP1,downstream_gene_variant,,ENST00000460451,; T ENSG00000275896 ENST00000633969 Transcript synonymous_variant 619/852 603/786 201/261 G ggC/ggT rs1271039281 1 NA 1 PRSS2 HGNC HGNC:9483 protein_coding YES CCDS83235.1 ENSP00000488437 A6XMV9.88 UPI0001578AE2 NM_001303414.1 5/6 CDD:cd00190,Gene3D:2.40.10.10,Pfam:PF00089,SMART:SM00020,Superfamily:SSF50494,PROSITE_profiles:PS50240,PANTHER:PTHR24264,PANTHER:PTHR24264:SF53 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . GCT . 3060.6 NA NA NA NA NA NA NA NA NA 142774025 PRSS2 0 . GRCh38 chr7 142774031 142774031 + Silent SNP C C T rs375829895 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.609C>T p.Leu203= p.L203= ENST00000633969 5/6 NA NA NA NA NA NA PRSS2,synonymous_variant,p.Leu203=,ENST00000633969,NM_001303414.1;PRSS2,synonymous_variant,p.Leu189=,ENST00000632998,;PRSS2,synonymous_variant,p.Leu189=,ENST00000539842,NM_002770.4;PRSS2,synonymous_variant,p.Leu188=,ENST00000632805,;PRSS2,non_coding_transcript_exon_variant,,ENST00000618750,;PRSS2,downstream_gene_variant,,ENST00000610835,;WBP1LP1,downstream_gene_variant,,ENST00000460451,; T ENSG00000275896 ENST00000633969 Transcript synonymous_variant 625/852 609/786 203/261 L ctC/ctT rs375829895 1 NA 1 PRSS2 HGNC HGNC:9483 protein_coding YES CCDS83235.1 ENSP00000488437 A6XMV9.88 UPI0001578AE2 NM_001303414.1 5/6 CDD:cd00190,Gene3D:2.40.10.10,Pfam:PF00089,SMART:SM00020,Superfamily:SSF50494,PROSITE_profiles:PS50240,PANTHER:PTHR24264,PANTHER:PTHR24264:SF53 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . TCG . 3094.6 NA NA NA NA NA NA NA NA NA 142774031 PRSS2 0 . GRCh38 chr7 142774361 142774361 + Silent SNP T T C rs775978604 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.639T>C p.Asp213= p.D213= ENST00000633969 6/6 NA NA NA NA NA NA PRSS2,synonymous_variant,p.Asp213=,ENST00000633969,NM_001303414.1;PRSS2,synonymous_variant,p.Asp199=,ENST00000632998,;PRSS2,synonymous_variant,p.Asp199=,ENST00000539842,NM_002770.4;PRSS2,synonymous_variant,p.Asp198=,ENST00000632805,;PRSS2,non_coding_transcript_exon_variant,,ENST00000618750,;PRSS2,downstream_gene_variant,,ENST00000610835,;WBP1LP1,downstream_gene_variant,,ENST00000460451,; C ENSG00000275896 ENST00000633969 Transcript synonymous_variant 655/852 639/786 213/261 D gaT/gaC rs775978604 1 NA 1 PRSS2 HGNC HGNC:9483 protein_coding YES CCDS83235.1 ENSP00000488437 A6XMV9.88 UPI0001578AE2 NM_001303414.1 6/6 CDD:cd00190,Gene3D:2.40.10.10,Pfam:PF00089,SMART:SM00020,Superfamily:SSF50494,PROSITE_profiles:PS50240,PANTHER:PTHR24264,PANTHER:PTHR24264:SF53,PROSITE_patterns:PS00135,Prints:PR00722 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . ATT . 270.6 NA NA NA NA NA NA NA NA NA 142774361 PRSS2 0 . GRCh38 chr7 142774381 142774381 + Missense_Mutation SNP C C G rs371336088 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.659C>G p.Ser220Cys p.S220C ENST00000633969 6/6 NA NA NA NA NA NA PRSS2,missense_variant,p.Ser220Cys,ENST00000633969,NM_001303414.1;PRSS2,missense_variant,p.Ser206Cys,ENST00000632998,;PRSS2,missense_variant,p.Ser206Cys,ENST00000539842,NM_002770.4;PRSS2,missense_variant,p.Ser205Cys,ENST00000632805,;PRSS2,non_coding_transcript_exon_variant,,ENST00000618750,;PRSS2,downstream_gene_variant,,ENST00000610835,;WBP1LP1,downstream_gene_variant,,ENST00000460451,; G ENSG00000275896 ENST00000633969 Transcript missense_variant 675/852 659/786 220/261 S/C tCc/tGc rs371336088 1 NA 1 PRSS2 HGNC HGNC:9483 protein_coding YES CCDS83235.1 ENSP00000488437 A6XMV9.88 UPI0001578AE2 NM_001303414.1 tolerated(1) benign(0) 6/6 CDD:cd00190,Gene3D:2.40.10.10,Pfam:PF00089,SMART:SM00020,Superfamily:SSF50494,PROSITE_profiles:PS50240,PANTHER:PTHR24264,PANTHER:PTHR24264:SF53 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . TCC . 934.6 NA NA NA NA NA NA NA NA NA 142774381 PRSS2 0 . GRCh38 chr7 142774389 142774389 + Missense_Mutation SNP G G C rs374228976 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.667G>C p.Glu223Gln p.E223Q ENST00000633969 6/6 NA NA NA NA NA NA PRSS2,missense_variant,p.Glu223Gln,ENST00000633969,NM_001303414.1;PRSS2,missense_variant,p.Glu209Gln,ENST00000632998,;PRSS2,missense_variant,p.Glu209Gln,ENST00000539842,NM_002770.4;PRSS2,missense_variant,p.Glu208Gln,ENST00000632805,;PRSS2,non_coding_transcript_exon_variant,,ENST00000618750,;PRSS2,downstream_gene_variant,,ENST00000610835,;WBP1LP1,downstream_gene_variant,,ENST00000460451,; C ENSG00000275896 ENST00000633969 Transcript missense_variant 683/852 667/786 223/261 E/Q Gag/Cag rs374228976 1 NA 1 PRSS2 HGNC HGNC:9483 protein_coding YES CCDS83235.1 ENSP00000488437 A6XMV9.88 UPI0001578AE2 NM_001303414.1 tolerated(0.56) benign(0.02) 6/6 CDD:cd00190,Gene3D:2.40.10.10,Pfam:PF00089,SMART:SM00020,Superfamily:SSF50494,PROSITE_profiles:PS50240,PANTHER:PTHR24264,PANTHER:PTHR24264:SF53 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . AGA . 1243.6 NA NA NA NA NA NA NA NA NA 142774389 PRSS2 0 . GRCh38 chr7 142774424 142774424 + Frame_Shift_Del DEL T T - rs554627905 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.702del p.Cys234TrpfsTer24 p.C234Wfs*24 ENST00000633969 6/6 NA NA NA NA NA NA PRSS2,frameshift_variant,p.Cys234TrpfsTer24,ENST00000633969,NM_001303414.1;PRSS2,frameshift_variant,p.Cys220TrpfsTer24,ENST00000632998,;PRSS2,frameshift_variant,p.Cys220TrpfsTer24,ENST00000539842,NM_002770.4;PRSS2,frameshift_variant,p.Cys219TrpfsTer24,ENST00000632805,;PRSS2,non_coding_transcript_exon_variant,,ENST00000618750,;PRSS2,downstream_gene_variant,,ENST00000610835,;WBP1LP1,downstream_gene_variant,,ENST00000460451,; - ENSG00000275896 ENST00000633969 Transcript frameshift_variant 718/852 702/786 234/261 C/X tgT/tg rs554627905,COSV52102792 1 NA 1 PRSS2 HGNC HGNC:9483 protein_coding YES CCDS83235.1 ENSP00000488437 A6XMV9.88 UPI0001578AE2 NM_001303414.1 6/6 CDD:cd00190,Gene3D:2.40.10.10,Pfam:PF00089,SMART:SM00020,Superfamily:SSF50494,PROSITE_profiles:PS50240,PANTHER:PTHR24264,PANTHER:PTHR24264:SF53 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA HIGH 1 deletion 1 NA 0,1 NA 1 . TGTG . 2221.6 1.576e-05 NA 7.105e-05 NA NA NA 1.092e-05 NA NA 142774423 PRSS2 0 . GRCh38 chr7 142774433 142774433 + Silent SNP G G A rs757073992 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.711G>A p.Lys237= p.K237= ENST00000633969 6/6 NA NA NA NA NA NA PRSS2,synonymous_variant,p.Lys237=,ENST00000633969,NM_001303414.1;PRSS2,synonymous_variant,p.Lys223=,ENST00000632998,;PRSS2,synonymous_variant,p.Lys223=,ENST00000539842,NM_002770.4;PRSS2,synonymous_variant,p.Lys222=,ENST00000632805,;PRSS2,non_coding_transcript_exon_variant,,ENST00000618750,;PRSS2,downstream_gene_variant,,ENST00000610835,;WBP1LP1,downstream_gene_variant,,ENST00000460451,; A ENSG00000275896 ENST00000633969 Transcript synonymous_variant 727/852 711/786 237/261 K aaG/aaA rs757073992 1 NA 1 PRSS2 HGNC HGNC:9483 protein_coding YES CCDS83235.1 ENSP00000488437 A6XMV9.88 UPI0001578AE2 NM_001303414.1 6/6 CDD:cd00190,Gene3D:2.40.10.10,Pfam:PF00089,SMART:SM00020,Superfamily:SSF50494,PROSITE_profiles:PS50240,PANTHER:PTHR24264,PANTHER:PTHR24264:SF53 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . AGA . 2365.6 5.165e-06 NA NA NA NA NA NA NA 5.931e-05 142774433 PRSS2 0 . GRCh38 chr7 142774435 142774435 + Missense_Mutation SNP A A G rs780768157 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.713A>G p.Asn238Ser p.N238S ENST00000633969 6/6 NA NA NA NA NA NA PRSS2,missense_variant,p.Asn238Ser,ENST00000633969,NM_001303414.1;PRSS2,missense_variant,p.Asn224Ser,ENST00000632998,;PRSS2,missense_variant,p.Asn224Ser,ENST00000539842,NM_002770.4;PRSS2,missense_variant,p.Asn223Ser,ENST00000632805,;PRSS2,non_coding_transcript_exon_variant,,ENST00000618750,;PRSS2,downstream_gene_variant,,ENST00000610835,;WBP1LP1,downstream_gene_variant,,ENST00000460451,; G ENSG00000275896 ENST00000633969 Transcript missense_variant 729/852 713/786 238/261 N/S aAc/aGc rs780768157 1 NA 1 PRSS2 HGNC HGNC:9483 protein_coding YES CCDS83235.1 ENSP00000488437 A6XMV9.88 UPI0001578AE2 NM_001303414.1 tolerated(0.06) benign(0.097) 6/6 CDD:cd00190,Gene3D:2.40.10.10,Pfam:PF00089,SMART:SM00020,Superfamily:SSF50494,PROSITE_profiles:PS50240,PANTHER:PTHR24264,PANTHER:PTHR24264:SF53 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . AAC . 1071.6 NA NA NA NA NA NA NA NA NA 142774435 PRSS2 0 . GRCh38 chr7 142774436 142774436 + Missense_Mutation SNP C C A rs371485584 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.714C>A p.Asn238Lys p.N238K ENST00000633969 6/6 NA NA NA NA NA NA PRSS2,missense_variant,p.Asn238Lys,ENST00000633969,NM_001303414.1;PRSS2,missense_variant,p.Asn224Lys,ENST00000632998,;PRSS2,missense_variant,p.Asn224Lys,ENST00000539842,NM_002770.4;PRSS2,missense_variant,p.Asn223Lys,ENST00000632805,;PRSS2,non_coding_transcript_exon_variant,,ENST00000618750,;PRSS2,downstream_gene_variant,,ENST00000610835,;WBP1LP1,downstream_gene_variant,,ENST00000460451,; A ENSG00000275896 ENST00000633969 Transcript missense_variant 730/852 714/786 238/261 N/K aaC/aaA rs371485584 1 NA 1 PRSS2 HGNC HGNC:9483 protein_coding YES CCDS83235.1 ENSP00000488437 A6XMV9.88 UPI0001578AE2 NM_001303414.1 tolerated(0.1) benign(0.378) 6/6 CDD:cd00190,Gene3D:2.40.10.10,Pfam:PF00089,SMART:SM00020,Superfamily:SSF50494,PROSITE_profiles:PS50240,PANTHER:PTHR24264,PANTHER:PTHR24264:SF53 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . ACA . 1071.6 NA NA NA NA NA NA NA NA NA 142774436 TRBJ1-6 0 . GRCh38 chr7 142789018 142789018 + Silent SNP T T C rs2367487 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.33T>C p.Asn11= p.N11= ENST00000633713 1/1 NA NA NA NA NA NA TRBJ1-6,synonymous_variant,p.Asn11=,ENST00000633713,;TRBJ1-4,downstream_gene_variant,,ENST00000632041,;TRBD1,downstream_gene_variant,,ENST00000632684,;TRBJ1-1,downstream_gene_variant,,ENST00000632951,;TRBJ1-2,downstream_gene_variant,,ENST00000633553,;TRBC1,upstream_gene_variant,,ENST00000633705,;TRBJ1-3,downstream_gene_variant,,ENST00000633780,;TRBJ1-5,downstream_gene_variant,,ENST00000634000,;,regulatory_region_variant,,ENSR00000842290,; C ENSG00000282780 ENST00000633713 Transcript synonymous_variant 31/53 33/55 11/18 N aaT/aaC rs2367487 1 NA 1 TRBJ1-6 HGNC HGNC:12167 TR_J_gene YES ENSP00000488283 A0A0J9YWX3.20 UPI0006454772 1/1 NA NA NA NA NA NA NA NA NA 16699518 NA NA NA NA LOW 1 SNV NA NA NA NA . ATG . 1546.6 NA NA NA NA NA NA NA NA NA 142789018 EPHB6 2051 . GRCh38 chr7 142864294 142864296 + In_Frame_Del DEL CCT CCT - rs143667567 NA HCI-EC-23 NORMAL CCT CCT NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.519_521del p.Ser177del p.S177del ENST00000619012 7/20 NA NA NA NA NA NA EPHB6,inframe_deletion,p.Ser177del,ENST00000619012,;EPHB6,inframe_deletion,p.Ser177del,ENST00000652003,NM_004445.6;EPHB6,inframe_deletion,p.Ser177del,ENST00000422643,;EPHB6,5_prime_UTR_variant,,ENST00000411471,NM_001280794.2,NM_001280795.2;EPHB6,downstream_gene_variant,,ENST00000497095,;EPHB6,3_prime_UTR_variant,,ENST00000614832,;EPHB6,non_coding_transcript_exon_variant,,ENST00000616380,;EPHB6,intron_variant,,ENST00000611578,;EPHB6,upstream_gene_variant,,ENST00000486511,; - ENSG00000106123 ENST00000619012 Transcript inframe_deletion 1246-1248/4011 494-496/3069 165-166/1022 PS/P cCCTcc/ccc rs143667567 1 NA 1 EPHB6 HGNC HGNC:3396 protein_coding YES CCDS5873.2 ENSP00000481994 F8WCM8.76 UPI0003EAF8C7 7/20 Low_complexity_(Seg):seg,CDD:cd10475,Pfam:PF01404,Gene3D:2.60.120.260,PIRSF:PIRSF000666,SMART:SM00615,Superfamily:SSF49785,PROSITE_profiles:PS51550,PANTHER:PTHR24416,PANTHER:PTHR24416:SF326 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 deletion 1 25 NA NA . TCCCTC . 4534.03 NA NA NA NA NA NA NA NA NA 142864293 EPHB6 2051 . GRCh38 chr7 142868976 142868976 + Splice_Region SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2289G>A p.Gln763= p.Q763= ENST00000619012 16/20 NA NA NA NA NA NA EPHB6,splice_region_variant,p.Gln763=,ENST00000619012,;EPHB6,splice_region_variant,p.Gln763=,ENST00000652003,NM_004445.6;EPHB6,splice_region_variant,p.Gln763=,ENST00000422643,;EPHB6,splice_region_variant,p.Gln470=,ENST00000411471,NM_001280794.2,NM_001280795.2;TRPV6,downstream_gene_variant,,ENST00000359396,NM_018646.6;EPHB6,upstream_gene_variant,,ENST00000476059,;EPHB6,upstream_gene_variant,,ENST00000617632,;EPHB6,splice_region_variant,,ENST00000616380,;EPHB6,splice_region_variant,,ENST00000614832,;EPHB6,splice_region_variant,,ENST00000611578,;EPHB6,splice_region_variant,,ENST00000486511,;EPHB6,upstream_gene_variant,,ENST00000471581,;TRPV6,downstream_gene_variant,,ENST00000485138,;TRPV6,downstream_gene_variant,,ENST00000615386,;TRPV6,downstream_gene_variant,,ENST00000619250,; A ENSG00000106123 ENST00000619012 Transcript splice_region_variant,synonymous_variant 3041/4011 2289/3069 763/1022 Q caG/caA 1 NA 1 EPHB6 HGNC HGNC:3396 protein_coding YES CCDS5873.2 ENSP00000481994 F8WCM8.76 UPI0003EAF8C7 16/20 Pfam:PF07714,Gene3D:1.10.510.10,PIRSF:PIRSF000666,Superfamily:SSF56112,PROSITE_profiles:PS50011,PANTHER:PTHR24416,PANTHER:PTHR24416:SF326 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . AGC . 1845.6 NA NA NA NA NA NA NA NA NA 142868976 TRPV5 56302 . GRCh38 chr7 142912607 142912607 + Missense_Mutation SNP A A G novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1663T>C p.Phe555Leu p.F555L ENST00000265310 13/15 NA NA NA NA NA NA TRPV5,missense_variant,p.Phe555Leu,ENST00000265310,NM_019841.7;TRPV5,missense_variant,p.Phe500Leu,ENST00000439304,; G ENSG00000127412 ENST00000265310 Transcript missense_variant 1950/2890 1663/2190 555/729 F/L Ttc/Ctc 1 NA -1 TRPV5 HGNC HGNC:3145 protein_coding YES CCDS5875.1 ENSP00000265310 A0A0A6YY98.50 UPI0004620D64 NM_019841.7 tolerated(0.1) benign(0.358) 13/15 Pfam:PF00520,PANTHER:PTHR10582,PANTHER:PTHR10582:SF11,TIGRFAM:TIGR00870,Transmembrane_helices:TMhelix NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . AAC . 3560.6 NA NA NA NA NA NA NA NA NA 142912607 ZYX 7791 . GRCh38 chr7 143388497 143388497 + Missense_Mutation SNP G G A rs779247184 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1153G>A p.Gly385Ser p.G385S ENST00000322764 7/10 NA NA NA NA NA NA ZYX,missense_variant,p.Gly385Ser,ENST00000322764,NM_003461.5,NM_001010972.2;ZYX,missense_variant,p.Gly228Ser,ENST00000392910,;ZYX,missense_variant,p.Gly353Ser,ENST00000354434,NM_001362783.2;ZYX,missense_variant,p.Gly75Ser,ENST00000446634,;EPHA1,downstream_gene_variant,,ENST00000275815,NM_005232.5;EPHA1,downstream_gene_variant,,ENST00000458129,;ZYX,3_prime_UTR_variant,,ENST00000436448,;ZYX,non_coding_transcript_exon_variant,,ENST00000497119,;EPHA1,downstream_gene_variant,,ENST00000488068,;,regulatory_region_variant,,ENSR00000842432,; A ENSG00000159840 ENST00000322764 Transcript missense_variant 1233/2228 1153/1719 385/572 G/S Ggc/Agc rs779247184 1 NA 1 ZYX HGNC HGNC:13200 protein_coding YES CCDS5883.1 ENSP00000324422 Q15942.195 UPI00000424F2 NM_003461.5,NM_001010972.2 deleterious(0.05) probably_damaging(0.94) 7/10 PROSITE_profiles:PS50023,CDD:cd09349,PANTHER:PTHR24212:SF1,PANTHER:PTHR24212,Gene3D:2.10.110.10,Pfam:PF00412,SMART:SM00132 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CGG . 2044.6 2.841e-05 NA NA NA NA NA 6.228e-05 NA NA 143388497 OR2F1 26211 . GRCh38 chr7 143960343 143960343 + Missense_Mutation SNP G G T novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.373G>T p.Ala125Ser p.A125S ENST00000641412 3/3 NA NA NA NA NA NA OR2F1,missense_variant,p.Ala125Ser,ENST00000641412,;OR2F1,missense_variant,p.Ala125Ser,ENST00000624504,NM_012369.2;OR2F1,intron_variant,,ENST00000470988,;OR2F1,intron_variant,,ENST00000641986,; T ENSG00000213215 ENST00000641412 Transcript missense_variant 812/4829 373/954 125/317 A/S Gct/Tct 1 NA 1 OR2F1 HGNC HGNC:8246 protein_coding YES ENSP00000493004 Q13607.160 A0A126GV98.29 UPI000003FF87 deleterious(0) probably_damaging(0.996) 3/3 Gene3D:1.20.1070.10,Pfam:PF13853,Prints:PR00237,PROSITE_patterns:PS00237,PROSITE_profiles:PS50262,PANTHER:PTHR26453,PANTHER:PTHR26453:SF116,Superfamily:SSF81321,CDD:cd15429 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV NA NA NA NA . GGC . 2278.6 NA NA NA NA NA NA NA NA NA 143960343 ZNF786 136051 . GRCh38 chr7 149071143 149071143 + Silent SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1629C>T p.Asp543= p.D543= ENST00000491431 4/4 NA NA NA NA NA NA ZNF786,synonymous_variant,p.Asp543=,ENST00000491431,NM_152411.4;ZNF786,synonymous_variant,p.Asp457=,ENST00000316286,;,regulatory_region_variant,,ENSR00001133022,; A ENSG00000197362 ENST00000491431 Transcript synonymous_variant 1707/3209 1629/2349 543/782 D gaC/gaT 1 NA -1 ZNF786 HGNC HGNC:21806 protein_coding YES CCDS47738.1 ENSP00000417470 Q8N393.145 UPI000013FD40 NM_152411.4 4/4 Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,PANTHER:PTHR24384,PANTHER:PTHR24384,PANTHER:PTHR24384:SF188,PANTHER:PTHR24384:SF188,SMART:SM00355,Superfamily:SSF57667 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . TGT . 9832.6 NA NA NA NA NA NA NA NA NA 149071143 ZNF425 155054 . GRCh38 chr7 149104495 149104495 + Missense_Mutation SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1376C>T p.Ala459Val p.A459V ENST00000378061 4/4 NA NA NA NA NA NA ZNF425,missense_variant,p.Ala459Val,ENST00000378061,NM_001001661.3;ZNF425,downstream_gene_variant,,ENST00000483014,;ZNF425,downstream_gene_variant,,ENST00000495685,; A ENSG00000204947 ENST00000378061 Transcript missense_variant 1487/3198 1376/2259 459/752 A/V gCc/gTc 1 NA -1 ZNF425 HGNC HGNC:20690 protein_coding YES CCDS34773.1 ENSP00000367300 Q6IV72.139 A0A090N7U3.40 UPI00001B64B9 NM_001001661.3 tolerated(0.09) benign(0.195) 4/4 Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,PANTHER:PTHR24393,PANTHER:PTHR24393,PANTHER:PTHR24393:SF73,PANTHER:PTHR24393:SF73,SMART:SM00355,Superfamily:SSF57667 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . GGC . 5042.6 NA NA NA NA NA NA NA NA NA 149104495 ZNF862 643641 . GRCh38 chr7 149861767 149861767 + Silent SNP C C T rs758455332 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2607C>T p.Asn869= p.N869= ENST00000223210 7/8 NA NA NA NA NA NA ZNF862,synonymous_variant,p.Asn869=,ENST00000223210,NM_001099220.3;AC004877.1,non_coding_transcript_exon_variant,,ENST00000608963,;ZNF862,downstream_gene_variant,,ENST00000478024,;,regulatory_region_variant,,ENSR00000843487,;,TF_binding_site_variant,,ENSM00204761877,;,TF_binding_site_variant,,ENSM00204883981,; T ENSG00000106479 ENST00000223210 Transcript synonymous_variant 2844/6942 2607/3510 869/1169 N aaC/aaT rs758455332,COSV56227142 1 NA 1 ZNF862 HGNC HGNC:34519 protein_coding YES CCDS47741.1 ENSP00000223210 O60290.135 UPI000016105C NM_001099220.3 7/8 PANTHER:PTHR46880,PANTHER:PTHR46880:SF3 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA LOW 1 SNV 5 NA 0,1 NA NA . ACG . 8451.6 4.024e-06 NA NA NA 5.572e-05 NA NA NA NA 149861767 REPIN1 29803 . GRCh38 chr7 150371985 150371985 + Silent SNP G G A rs747511625 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.915G>A p.Lys305= p.K305= ENST00000489432 3/3 NA NA NA NA NA NA REPIN1,synonymous_variant,p.Lys248=,ENST00000397281,NM_001362746.2,NM_013400.3;REPIN1,synonymous_variant,p.Lys248=,ENST00000444957,NM_001099696.2,NM_001362747.2;REPIN1,synonymous_variant,p.Lys248=,ENST00000425389,;REPIN1,synonymous_variant,p.Lys305=,ENST00000489432,NM_001362745.2,NM_001099695.2;REPIN1,synonymous_variant,p.Lys308=,ENST00000488943,;REPIN1,synonymous_variant,p.Lys307=,ENST00000475514,;REPIN1,3_prime_UTR_variant,,ENST00000479668,;REPIN1,3_prime_UTR_variant,,ENST00000466559,;ZNF775,intron_variant,,ENST00000478789,;REPIN1,downstream_gene_variant,,ENST00000482680,;REPIN1,downstream_gene_variant,,ENST00000518514,;REPIN1,downstream_gene_variant,,ENST00000519397,;REPIN1-AS1,intron_variant,,ENST00000488310,;REPIN1,downstream_gene_variant,,ENST00000518462,;REPIN1,downstream_gene_variant,,ENST00000467980,;REPIN1,downstream_gene_variant,,ENST00000469309,;REPIN1,downstream_gene_variant,,ENST00000473391,;REPIN1,downstream_gene_variant,,ENST00000486714,;REPIN1,downstream_gene_variant,,ENST00000487455,;REPIN1,downstream_gene_variant,,ENST00000495535,;REPIN1,downstream_gene_variant,,ENST00000522266,; A ENSG00000214022 ENST00000489432 Transcript synonymous_variant 1098/2058 915/1875 305/624 K aaG/aaA rs747511625,COSV68292647 1 NA 1 REPIN1 HGNC HGNC:17922 protein_coding YES CCDS47745.1 ENSP00000417291 Q9BWE0.151 UPI0001596898 NM_001362745.2,NM_001099695.2 3/3 Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,PANTHER:PTHR24406,PANTHER:PTHR24406:SF10,SMART:SM00355,Superfamily:SSF57667 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA LOW 1 SNV 2 NA 0,1 NA NA . AGC . 4094.6 8.351e-06 NA NA NA 5.652e-05 NA NA NA 3.28e-05 150371985 IQCA1L 0 . GRCh38 chr7 151195598 151195598 + Frame_Shift_Del DEL C C - rs1317223808 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1375del p.Glu459LysfsTer4 p.E459Kfs*4 ENST00000615129 11/19 NA NA NA NA NA NA IQCA1L,frameshift_variant,p.Glu459LysfsTer4,ENST00000615129,NM_001304419.2;IQCA1L,3_prime_UTR_variant,,ENST00000613681,;IQCA1L,upstream_gene_variant,,ENST00000611102,; - ENSG00000278685 ENST00000615129 Transcript frameshift_variant 1417/2606 1375/2457 459/818 E/X Gaa/aa rs1317223808 1 NA -1 IQCA1L HGNC HGNC:22831 protein_coding YES CCDS78288.1 ENSP00000482119 A6NCM1.78 UPI0004620DED NM_001304419.2 11/19 Coiled-coils_(Ncoils):Coil,PANTHER:PTHR14690,PANTHER:PTHR14690:SF6,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 5 NA NA NA . TTCT . 13226.03 NA NA NA NA NA NA NA NA NA 151195597 GALNT11 63917 . GRCh38 chr7 152117280 152117280 + Missense_Mutation SNP C C A novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1357C>A p.Pro453Thr p.P453T ENST00000434507 11/14 NA NA NA NA NA NA GALNT11,missense_variant,p.Pro453Thr,ENST00000434507,;GALNT11,missense_variant,p.Pro453Thr,ENST00000430044,NM_001371458.1,NM_001371459.1,NM_001371468.1,NM_001371461.1,NM_001371460.1,NM_001371462.1,NM_001371467.1,NM_001371469.1,NM_001371466.1,NM_001371463.1,NM_001371464.1,NM_022087.4,NM_001371465.1,NM_001371475.1,NM_001371470.1,NM_001304514.2;AC006017.1,downstream_gene_variant,,ENST00000424630,;GALNT11,3_prime_UTR_variant,,ENST00000431940,;GALNT11,non_coding_transcript_exon_variant,,ENST00000491061,;GALNT11,downstream_gene_variant,,ENST00000447778,; A ENSG00000178234 ENST00000434507 Transcript missense_variant 1794/2747 1357/1827 453/608 P/T Cca/Aca 1 NA 1 GALNT11 HGNC HGNC:19875 protein_coding YES CCDS5930.1 ENSP00000416787 Q8NCW6.153 A0A090N7X6.50 UPI000004C2AA deleterious(0) probably_damaging(1) 11/14 PANTHER:PTHR11675:SF10,PANTHER:PTHR11675,Gene3D:3.90.550.10,Superfamily:SSF53448 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 2 NA NA NA . CCC . 1522.6 NA NA NA NA NA NA NA NA NA 152117280 NOM1 64434 . GRCh38 chr7 156969132 156969132 + Nonsense_Mutation SNP C C T rs141070757 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2344C>T p.Arg782Ter p.R782* ENST00000275820 10/11 NA NA NA NA NA NA NOM1,stop_gained,p.Arg782Ter,ENST00000275820,NM_001353366.2,NM_138400.2;NOM1,non_coding_transcript_exon_variant,,ENST00000486131,;NOM1,non_coding_transcript_exon_variant,,ENST00000485661,;NOM1,downstream_gene_variant,,ENST00000472491,; T ENSG00000146909 ENST00000275820 Transcript stop_gained 2370/6082 2344/2583 782/860 R/* Cga/Tga rs141070757 1 NA 1 NOM1 HGNC HGNC:13244 protein_coding YES CCDS34787.1 ENSP00000275820 Q5C9Z4.123 UPI000020E71F NM_001353366.2,NM_138400.2 10/11 PANTHER:PTHR18034,PANTHER:PTHR18034:SF4 NA NA NA NA NA NA NA 0.000227 NA NA NA NA NA HIGH 1 SNV 1 NA NA NA . ACG . 2639.6 7.962e-06 6.165e-05 NA NA NA NA NA 0.0001631 NA 156969132 UBE3C 9690 . GRCh38 chr7 157181563 157181563 + Missense_Mutation SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.662C>T p.Ser221Leu p.S221L ENST00000348165 7/23 NA NA NA NA NA NA UBE3C,missense_variant,p.Ser221Leu,ENST00000348165,NM_014671.3;UBE3C,missense_variant,p.Ser178Leu,ENST00000611269,;UBE3C,missense_variant,p.Ser178Leu,ENST00000389103,; T ENSG00000009335 ENST00000348165 Transcript missense_variant 1009/5214 662/3252 221/1083 S/L tCa/tTa 1 NA 1 UBE3C HGNC HGNC:16803 protein_coding YES CCDS34789.1 ENSP00000309198 Q15386.170 UPI000020E72A NM_014671.3 tolerated(0.13) benign(0.001) 7/23 PANTHER:PTHR45700:SF2,PANTHER:PTHR45700 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . TCA . 393.6 NA NA NA NA NA NA NA NA NA 157181563 DNAJB6 10049 . GRCh38 chr7 157409990 157409990 + Missense_Mutation SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.887C>T p.Ala296Val p.A296V ENST00000634080 8/8 NA NA NA NA NA NA DNAJB6,missense_variant,p.Ala296Val,ENST00000262177,NM_058246.4;DNAJB6,missense_variant,p.Ala181Val,ENST00000443280,NM_001363676.1;DNAJB6,missense_variant,p.Ala296Val,ENST00000634080,;DNAJB6,non_coding_transcript_exon_variant,,ENST00000465908,;DNAJB6,missense_variant,p.Ala296Val,ENST00000459889,; T ENSG00000105993 ENST00000634080 Transcript missense_variant 887/1005 887/1005 296/334 A/V gCg/gTg 1 NA 1 DNAJB6 HGNC HGNC:14888 protein_coding YES ENSP00000488740 A0A0J9YX62.43 UPI00016395DC tolerated(0.35) benign(0) 8/8 MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 2 NA NA 1 . GCG . 3804.6 NA NA NA NA NA NA NA NA NA 157409990 MYOM2 9172 . GRCh38 chr8 2069478 2069478 + Silent SNP G G A rs1222207739 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.774G>A p.Ser258= p.S258= ENST00000262113 8/37 NA NA NA NA NA NA MYOM2,synonymous_variant,p.Ser258=,ENST00000262113,NM_003970.4;MYOM2,intron_variant,,ENST00000523438,;,regulatory_region_variant,,ENSR00000846069,; A ENSG00000036448 ENST00000262113 Transcript synonymous_variant 909/5008 774/4398 258/1465 S tcG/tcA rs1222207739,COSV50759445 1 NA 1 MYOM2 HGNC HGNC:7614 protein_coding YES CCDS5957.1 ENSP00000262113 P54296.165 UPI000442D01B NM_003970.4 8/37 PANTHER:PTHR13817,PANTHER:PTHR13817:SF22 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA LOW 1 SNV 1 NA 0,1 NA NA . CGG . 1423.6 3.976e-06 NA NA NA NA NA 8.79e-06 NA NA 2069478 ZNF705B 100132396 . GRCh38 chr8 7950105 7950105 + Missense_Mutation SNP T T A rs1366009974 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.212T>A p.Val71Glu p.V71E ENST00000400120 5/7 NA NA NA NA NA NA ZNF705B,missense_variant,p.Val71Glu,ENST00000400120,NM_001193630.1;FAM66E,upstream_gene_variant,,ENST00000529252,;FAM66E,upstream_gene_variant,,ENST00000533615,; A ENSG00000215356 ENST00000400120 Transcript missense_variant 494/1207 212/903 71/300 V/E gTa/gAa rs1366009974,COSV68031060 1 NA 1 ZNF705B HGNC HGNC:32284 protein_coding YES CCDS55194.1 ENSP00000382987 P0CI00.75 UPI000041944C NM_001193630.1 tolerated(0.33) benign(0) 5/7 PROSITE_profiles:PS50805,PANTHER:PTHR24381,PANTHER:PTHR24381:SF312 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 2 NA 0,1 NA NA . GTA . 97.1 NA NA NA NA NA NA NA NA NA 7950105 PRAG1 0 . GRCh38 chr8 8318866 8318871 + In_Frame_Del DEL GGGGCG GGGGCG - rs143409664 NA HCI-EC-23 NORMAL GGGGCG GGGGCG NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3504_3509del p.Pro1174_Ala1175del p.P1174_A1175del ENST00000615670 6/6 NA NA NA NA NA NA PRAG1,inframe_deletion,p.Pro1174_Ala1175del,ENST00000615670,NM_001080826.3;PRAG1,inframe_deletion,p.Pro1174_Ala1175del,ENST00000622241,NM_001369759.1;,regulatory_region_variant,,ENSR00000846961,;,regulatory_region_variant,,ENSR00000846962,;,TF_binding_site_variant,,ENSM00000169747,;,TF_binding_site_variant,,ENSM00091226272,; - ENSG00000275342 ENST00000615670 Transcript inframe_deletion 3710-3715/4845 3504-3509/4221 1168-1170/1406 PAP/P ccCGCCCCg/ccg rs143409664 1 NA -1 PRAG1 HGNC HGNC:25438 protein_coding YES CCDS43706.1 ENSP00000481109 Q86YV5.146 UPI0003EAF98F NM_001080826.3 6/6 PDB-ENSP_mappings:5ve6.A,Pfam:PF00069,PROSITE_profiles:PS50011,PANTHER:PTHR22972,PANTHER:PTHR22972:SF3,SMART:SM00220,Superfamily:SSF56112,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 deletion 5 NA NA NA . CCGGGGCGG . 1576.6 NA NA NA NA NA NA NA NA NA 8318865 PRAG1 0 . GRCh38 chr8 8377353 8377358 + In_Frame_Del DEL GCCGCT GCCGCT - rs59372311 NA HCI-EC-23 NORMAL GCCGCT GCCGCT NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1051_1056del p.Ser351_Gly352del p.S351_G352del ENST00000615670 3/6 NA NA NA NA NA NA PRAG1,inframe_deletion,p.Ser351_Gly352del,ENST00000615670,NM_001080826.3;PRAG1,inframe_deletion,p.Ser351_Gly352del,ENST00000622241,NM_001369759.1; - ENSG00000275342 ENST00000615670 Transcript inframe_deletion 1257-1262/4845 1051-1056/4221 351-352/1406 SG/- AGCGGC/- rs59372311 1 NA -1 PRAG1 HGNC HGNC:25438 protein_coding YES CCDS43706.1 ENSP00000481109 Q86YV5.146 UPI0003EAF98F NM_001080826.3 3/6 PANTHER:PTHR22972,PANTHER:PTHR22972:SF3,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 deletion 5 NA NA NA . GCGCCGCTG . 5437.6 NA NA NA NA NA NA NA NA NA 8377352 RP1L1 94137 . GRCh38 chr8 10610094 10610094 + Missense_Mutation SNP C C A rs74366179 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4004G>T p.Gly1335Val p.G1335V ENST00000382483 4/4 NA NA NA NA NA NA RP1L1,missense_variant,p.Gly1335Val,ENST00000382483,NM_178857.6;,regulatory_region_variant,,ENSR00001134824,; A ENSG00000183638 ENST00000382483 Transcript missense_variant 4269/8014 4004/7203 1335/2400 G/V gGg/gTg rs74366179 1 NA -1 RP1L1 HGNC HGNC:15946 protein_coding YES CCDS43708.1 ENSP00000371923 Q8IWN7.132 UPI00001AF9CC NM_178857.6 deleterious(0) possibly_damaging(0.72) 4/4 PANTHER:PTHR23005,PANTHER:PTHR23005:SF3,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA 0.1322 0.1521 benign NA NA NA NA MODERATE 1 SNV 1 NA 1 NA 1 . CCC . 3208.6 NA NA NA NA NA NA NA NA NA 10610094 RP1L1 94137 . GRCh38 chr8 10610142 10610142 + Missense_Mutation SNP G G C rs4840501 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3956C>G p.Ala1319Gly p.A1319G ENST00000382483 4/4 NA NA NA NA NA NA RP1L1,missense_variant,p.Ala1319Gly,ENST00000382483,NM_178857.6;,regulatory_region_variant,,ENSR00001134824,; C ENSG00000183638 ENST00000382483 Transcript missense_variant 4221/8014 3956/7203 1319/2400 A/G gCg/gGg rs4840501 1 NA -1 RP1L1 HGNC HGNC:15946 protein_coding YES CCDS43708.1 ENSP00000371923 Q8IWN7.132 UPI00001AF9CC NM_178857.6 tolerated(1) benign(0) 4/4 PANTHER:PTHR23005,PANTHER:PTHR23005:SF3,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA benign NA NA NA NA MODERATE 1 SNV 1 NA 1 NA 1 . CGC . 3001.6 NA NA NA NA NA NA NA NA NA 10610142 C8orf74 203076 . GRCh38 chr8 10700378 10700378 + Silent SNP T T C rs1404739225 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.792T>C p.Pro264= p.P264= ENST00000304519 4/4 NA NA NA NA NA NA C8orf74,synonymous_variant,p.Pro264=,ENST00000304519,NM_001040032.2;RP1L1,intron_variant,,ENST00000329335,;C8orf74,3_prime_UTR_variant,,ENST00000523289,; C ENSG00000171060 ENST00000304519 Transcript synonymous_variant 830/1042 792/885 264/294 P ccT/ccC rs1404739225 1 NA 1 C8orf74 HGNC HGNC:32296 protein_coding YES CCDS47800.1 ENSP00000307129 Q6P047.99 UPI00001D82A9 NM_001040032.2 4/4 MobiDB_lite:mobidb-lite,PANTHER:PTHR28457,PANTHER:PTHR28457:SF2 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . CTA . 1603.6 0.0001068 6.55e-05 0.00018 NA 0.0002892 4.671e-05 4.513e-05 NA 0.0002682 10700378 XKR6 286046 . GRCh38 chr8 11200732 11200732 + Frame_Shift_Del DEL C C - NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.608del p.Gly203AlafsTer4 p.G203Afs*4 ENST00000416569 1/3 NA NA NA NA NA NA XKR6,frameshift_variant,p.Gly203AlafsTer4,ENST00000416569,NM_173683.4;XKR6,frameshift_variant,p.Gly203AlafsTer4,ENST00000297303,;AF131215.7,upstream_gene_variant,,ENST00000602443,;XKR6,frameshift_variant,p.Gly35AlafsTer4,ENST00000529336,;,regulatory_region_variant,,ENSR00000221033,; - ENSG00000171044 ENST00000416569 Transcript frameshift_variant 1102/4327 608/1926 203/641 G/X gGc/gc COSV52008413 1 NA -1 XKR6 HGNC HGNC:27806 protein_coding YES CCDS5978.2 ENSP00000416707 Q5GH73.115 UPI00004C7A9D NM_173683.4 1/3 Pfam:PF09815,PANTHER:PTHR16024,PANTHER:PTHR16024:SF9 NA NA NA NA NA NA NA NA NA 1 NA NA NA NA HIGH 1 deletion 1 NA 1 NA NA . GGCC . 1629.6 NA NA NA NA NA NA NA NA NA 11200731 FDFT1 2222 . GRCh38 chr8 11808710 11808715 + In_Frame_Del DEL TCCCAC TCCCAC - rs71711801 NA HCI-EC-23 NORMAL TCCCAC TCCCAC NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.226_231del p.His76_Ser77del p.H76_S77del ENST00000525954 1/7 NA NA NA NA NA NA FDFT1,inframe_deletion,p.His76_Ser77del,ENST00000525954,NM_001287750.1;FDFT1,intron_variant,,ENST00000220584,NM_004462.5;FDFT1,intron_variant,,ENST00000443614,NM_001287756.1;FDFT1,intron_variant,,ENST00000525900,;FDFT1,intron_variant,,ENST00000528812,NM_001287747.1;FDFT1,intron_variant,,ENST00000530337,;FDFT1,intron_variant,,ENST00000530664,NM_001287749.1;FDFT1,intron_variant,,ENST00000538689,NM_001287744.1;FDFT1,intron_variant,,ENST00000615631,NM_001287743.1;FDFT1,intron_variant,,ENST00000618539,NM_001287742.1;FDFT1,intron_variant,,ENST00000622850,NM_001287748.1;FDFT1,intron_variant,,ENST00000623368,NM_001287745.1;FDFT1,upstream_gene_variant,,ENST00000525777,;FDFT1,upstream_gene_variant,,ENST00000528643,NM_001287751.1;FDFT1,intron_variant,,ENST00000446331,;FDFT1,downstream_gene_variant,,ENST00000525571,;FDFT1,non_coding_transcript_exon_variant,,ENST00000531249,;FDFT1,non_coding_transcript_exon_variant,,ENST00000531733,;FDFT1,intron_variant,,ENST00000525283,;FDFT1,intron_variant,,ENST00000525607,;FDFT1,intron_variant,,ENST00000529464,;FDFT1,downstream_gene_variant,,ENST00000527045,;FDFT1,upstream_gene_variant,,ENST00000532266,;,regulatory_region_variant,,ENSR00000221117,; - ENSG00000079459 ENST00000525954 Transcript inframe_deletion 294-299/1890 193-198/1431 65-66/476 SH/- TCCCAC/- rs71711801 1 NA 1 FDFT1 HGNC HGNC:3629 protein_coding YES CCDS87579.1 ENSP00000491537 A0A1W2PQ47.19 UPI0000D4CC11 NM_001287750.1 1/7 Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 deletion 2 33 NA 1 . AGTCCCACT . 6302.03 NA NA NA NA NA NA NA NA NA 11808709 CTSB 1508 . GRCh38 chr8 11849108 11849108 + Silent SNP G G A rs927000261 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.384C>T p.His128= p.H128= ENST00000505496 6/12 NA NA NA NA NA NA CTSB,synonymous_variant,p.His128=,ENST00000677671,;CTSB,synonymous_variant,p.His128=,ENST00000676691,;CTSB,synonymous_variant,p.His128=,ENST00000677650,;CTSB,synonymous_variant,p.His128=,ENST00000676952,;CTSB,synonymous_variant,p.His128=,ENST00000677873,;CTSB,synonymous_variant,p.His128=,ENST00000678242,NM_147782.4;CTSB,synonymous_variant,p.His128=,ENST00000678145,;CTSB,synonymous_variant,p.His145=,ENST00000678598,;CTSB,synonymous_variant,p.His128=,ENST00000679128,;CTSB,synonymous_variant,p.His128=,ENST00000353047,NM_001908.5;CTSB,synonymous_variant,p.His128=,ENST00000676825,;CTSB,synonymous_variant,p.His128=,ENST00000678092,;CTSB,synonymous_variant,p.His128=,ENST00000679121,;CTSB,synonymous_variant,p.His128=,ENST00000677366,;CTSB,synonymous_variant,p.His128=,ENST00000677544,NM_147780.4;CTSB,synonymous_variant,p.His128=,ENST00000677418,;CTSB,synonymous_variant,p.His128=,ENST00000677819,;CTSB,synonymous_variant,p.His128=,ENST00000678929,;CTSB,synonymous_variant,p.His128=,ENST00000677047,;CTSB,synonymous_variant,p.His128=,ENST00000677415,;CTSB,synonymous_variant,p.His56=,ENST00000678629,NM_001317237.2;CTSB,synonymous_variant,p.His128=,ENST00000678357,;CTSB,synonymous_variant,p.His128=,ENST00000676755,;CTSB,synonymous_variant,p.His128=,ENST00000534382,;CTSB,synonymous_variant,p.His128=,ENST00000530640,;CTSB,synonymous_variant,p.His128=,ENST00000531089,;CTSB,synonymous_variant,p.His128=,ENST00000679051,NM_147783.4;CTSB,synonymous_variant,p.His128=,ENST00000532392,;CTSB,synonymous_variant,p.His128=,ENST00000531502,;CTSB,synonymous_variant,p.His128=,ENST00000676843,;CTSB,synonymous_variant,p.His128=,ENST00000679140,;CTSB,synonymous_variant,p.His128=,ENST00000528965,;CTSB,synonymous_variant,p.His128=,ENST00000676502,;CTSB,synonymous_variant,p.His128=,ENST00000677082,;CTSB,synonymous_variant,p.His128=,ENST00000532656,;CTSB,synonymous_variant,p.His128=,ENST00000527215,;CTSB,synonymous_variant,p.His128=,ENST00000678615,;CTSB,synonymous_variant,p.His128=,ENST00000505496,;CTSB,synonymous_variant,p.His128=,ENST00000524654,;CTSB,synonymous_variant,p.His128=,ENST00000534510,;CTSB,synonymous_variant,p.His128=,ENST00000533455,;CTSB,synonymous_variant,p.His128=,ENST00000345125,NM_147781.4;CTSB,synonymous_variant,p.His128=,ENST00000534149,;CTSB,synonymous_variant,p.His128=,ENST00000526195,;CTSB,synonymous_variant,p.His128=,ENST00000453527,;CTSB,synonymous_variant,p.His128=,ENST00000526645,;CTSB,synonymous_variant,p.His128=,ENST00000533572,;CTSB,synonymous_variant,p.His128=,ENST00000524500,;CTSB,synonymous_variant,p.His128=,ENST00000530296,;CTSB,synonymous_variant,p.His128=,ENST00000527243,;CTSB,synonymous_variant,p.His128=,ENST00000534636,;CTSB,intron_variant,,ENST00000678067,;CTSB,synonymous_variant,p.His128=,ENST00000679214,;CTSB,synonymous_variant,p.His128=,ENST00000526481,;CTSB,3_prime_UTR_variant,,ENST00000677283,;CTSB,3_prime_UTR_variant,,ENST00000677865,;CTSB,non_coding_transcript_exon_variant,,ENST00000525076,;CTSB,non_coding_transcript_exon_variant,,ENST00000420692,;CTSB,non_coding_transcript_exon_variant,,ENST00000532409,;CTSB,intron_variant,,ENST00000531551,;CTSB,downstream_gene_variant,,ENST00000525315,;CTSB,upstream_gene_variant,,ENST00000530290,;,regulatory_region_variant,,ENSR00000847865,;,regulatory_region_variant,,ENSR00000847866,; A ENSG00000164733 ENST00000505496 Transcript synonymous_variant 586/2101 384/1116 128/371 H caC/caT rs927000261 1 NA -1 CTSB HGNC HGNC:2527 protein_coding YES ENSP00000435650 E9PJ67.60 6/12 CDD:cd02620,Pfam:PF00112,SMART:SM00645,Superfamily:SSF54001,PANTHER:PTHR12411,PANTHER:PTHR12411:SF606 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 4 NA NA 1 . CGT . 992.6 3.987e-06 NA 2.894e-05 NA NA NA NA NA NA 11849108 FAM86B1 85002 . GRCh38 chr8 12186442 12186442 + Missense_Mutation SNP T T C novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.652A>G p.Ser218Gly p.S218G ENST00000533852 6/8 NA NA NA NA NA NA FAM86B1,missense_variant,p.Ser184Gly,ENST00000448228,NM_001083537.2;FAM86B1,missense_variant,p.Ser218Gly,ENST00000533852,;FAM86B1,3_prime_UTR_variant,,ENST00000524571,;FAM86B1,intron_variant,,ENST00000534520,;FAM86B1,downstream_gene_variant,,ENST00000533513,;FAM86B1,3_prime_UTR_variant,,ENST00000431227,;FAM86B1,3_prime_UTR_variant,,ENST00000526708,;FAM86B1,non_coding_transcript_exon_variant,,ENST00000529617,;FAM86B1,intron_variant,,ENST00000340537,;FAM86B1,intron_variant,,ENST00000524893,;FAM86B1,intron_variant,,ENST00000525822,;FAM86B1,intron_variant,,ENST00000527300,;FAM86B1,intron_variant,,ENST00000529060,;FAM86B1,intron_variant,,ENST00000529146,;FAM86B1,intron_variant,,ENST00000530385,;FAM86B1,intron_variant,,ENST00000531833,;FAM86B1,intron_variant,,ENST00000534187,;FAM86B1,intron_variant,,ENST00000534732,;FAM86B1,upstream_gene_variant,,ENST00000530508,;ALG1L11P,downstream_gene_variant,,ENST00000511660,; C ENSG00000186523 ENST00000533852 Transcript missense_variant 652/2043 652/993 218/330 S/G Agc/Ggc 1 NA -1 FAM86B1 HGNC HGNC:28268 protein_coding YES ENSP00000432931 E9PN63.65 UPI0001F77F5B tolerated(0.14) benign(0.001) 6/8 Gene3D:3.40.50.150,Pfam:PF10294,PANTHER:PTHR14614,PANTHER:PTHR14614:SF128,Superfamily:SSF53335 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . CTG . 35.6 NA NA NA NA NA NA NA NA NA 12186442 FAM86B1 85002 . GRCh38 chr8 12188153 12188153 + Silent SNP C C T rs750474136 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.261G>A p.Glu87= p.E87= ENST00000533852 4/8 NA NA NA NA NA NA FAM86B1,synonymous_variant,p.Glu87=,ENST00000533852,;FAM86B1,synonymous_variant,p.Glu87=,ENST00000533513,;FAM86B1,intron_variant,,ENST00000448228,NM_001083537.2;FAM86B1,intron_variant,,ENST00000524571,;FAM86B1,intron_variant,,ENST00000534520,;FAM86B1,missense_variant,p.Ser57Asn,ENST00000529146,;FAM86B1,3_prime_UTR_variant,,ENST00000526708,;FAM86B1,3_prime_UTR_variant,,ENST00000529060,;FAM86B1,non_coding_transcript_exon_variant,,ENST00000529617,;FAM86B1,intron_variant,,ENST00000340537,;FAM86B1,intron_variant,,ENST00000431227,;FAM86B1,intron_variant,,ENST00000524893,;FAM86B1,intron_variant,,ENST00000525822,;FAM86B1,intron_variant,,ENST00000527300,;FAM86B1,intron_variant,,ENST00000530385,;FAM86B1,intron_variant,,ENST00000531833,;FAM86B1,intron_variant,,ENST00000534187,;FAM86B1,intron_variant,,ENST00000534732,;FAM86B1,upstream_gene_variant,,ENST00000530508,;,regulatory_region_variant,,ENSR00000329940,; T ENSG00000186523 ENST00000533852 Transcript synonymous_variant 261/2043 261/993 87/330 E gaG/gaA rs750474136 1 NA -1 FAM86B1 HGNC HGNC:28268 protein_coding YES ENSP00000432931 E9PN63.65 UPI0001F77F5B 4/8 Gene3D:3.40.50.150,Pfam:PF14904,PANTHER:PTHR14614,PANTHER:PTHR14614:SF128 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . GCT . 113.1 NA NA NA NA NA NA NA NA NA 12188153 FAM86B1 85002 . GRCh38 chr8 12188170 12188170 + Missense_Mutation SNP C C T rs778720896 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.244G>A p.Glu82Lys p.E82K ENST00000533852 4/8 NA NA NA NA NA NA FAM86B1,missense_variant,p.Glu82Lys,ENST00000533852,;FAM86B1,missense_variant,p.Glu82Lys,ENST00000533513,;FAM86B1,intron_variant,,ENST00000448228,NM_001083537.2;FAM86B1,intron_variant,,ENST00000524571,;FAM86B1,intron_variant,,ENST00000534520,;FAM86B1,synonymous_variant,p.Thr51=,ENST00000529146,;FAM86B1,3_prime_UTR_variant,,ENST00000526708,;FAM86B1,3_prime_UTR_variant,,ENST00000529060,;FAM86B1,non_coding_transcript_exon_variant,,ENST00000529617,;FAM86B1,intron_variant,,ENST00000340537,;FAM86B1,intron_variant,,ENST00000431227,;FAM86B1,intron_variant,,ENST00000524893,;FAM86B1,intron_variant,,ENST00000525822,;FAM86B1,intron_variant,,ENST00000527300,;FAM86B1,intron_variant,,ENST00000530385,;FAM86B1,intron_variant,,ENST00000531833,;FAM86B1,intron_variant,,ENST00000534187,;FAM86B1,intron_variant,,ENST00000534732,;FAM86B1,upstream_gene_variant,,ENST00000530508,;,regulatory_region_variant,,ENSR00000329940,; T ENSG00000186523 ENST00000533852 Transcript missense_variant 244/2043 244/993 82/330 E/K Gag/Aag rs778720896 1 NA -1 FAM86B1 HGNC HGNC:28268 protein_coding YES ENSP00000432931 E9PN63.65 UPI0001F77F5B deleterious(0) benign(0.062) 4/8 Gene3D:3.40.50.150,Pfam:PF14904,PANTHER:PTHR14614,PANTHER:PTHR14614:SF128 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . TCG . 34.6 9.735e-05 NA 0.0003103 NA NA NA 0.0001341 NA NA 12188170 SLC7A2 6542 . GRCh38 chr8 17543508 17543508 + Frame_Shift_Del DEL G G - novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.292del p.Glu98ArgfsTer23 p.E98Rfs*23 ENST00000004531 2/12 NA NA NA NA NA NA SLC7A2,frameshift_variant,p.Glu98ArgfsTer23,ENST00000470360,NM_001370337.1;SLC7A2,frameshift_variant,p.Glu58ArgfsTer23,ENST00000494857,NM_001370338.1,NM_001008539.4;SLC7A2,frameshift_variant,p.Glu98ArgfsTer23,ENST00000004531,NM_001164771.2;SLC7A2,frameshift_variant,p.Glu98ArgfsTer23,ENST00000398090,NM_003046.6;SLC7A2,frameshift_variant,p.Glu58ArgfsTer23,ENST00000522656,;SLC7A2,frameshift_variant,p.Glu83ArgfsTer23,ENST00000640220,; - ENSG00000003989 ENST00000004531 Transcript frameshift_variant 337/7560 289/2097 97/698 G/X Ggg/gg 1 NA 1 SLC7A2 HGNC HGNC:11060 protein_coding YES CCDS55203.1 ENSP00000004531 P52569.174 UPI0001A336A4 NM_001164771.2 2/12 Gene3D:1.20.1740.10,Pfam:PF13520,PANTHER:PTHR43243,PANTHER:PTHR43243:SF49,TIGRFAM:TIGR00906,Transmembrane_helices:TMhelix NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 3 NA NA . CTGG . 4450.6 NA NA NA NA NA NA NA NA NA 17543507 CSGALNACT1 55790 . GRCh38 chr8 19405784 19405785 + Frame_Shift_Ins INS - - T rs778908076 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1594dup p.Thr532AsnfsTer31 p.T532Nfs*31 ENST00000454498 10/10 NA NA NA NA NA NA CSGALNACT1,frameshift_variant,p.Thr532AsnfsTer31,ENST00000454498,NM_001354497.1,NM_001354492.1,NM_001354495.1,NM_001354499.1,NM_001130518.1,NM_001354491.1,NM_001354498.1;CSGALNACT1,frameshift_variant,p.Thr532AsnfsTer31,ENST00000332246,NM_001354477.1,NM_001354480.1,NM_001354489.1,NM_001354485.1,NM_018371.4,NM_001354494.1,NM_001354496.1;CSGALNACT1,frameshift_variant,p.Thr532AsnfsTer?,ENST00000522854,NM_001354476.1,NM_001354481.1,NM_001354475.1,NM_001354483.1,NM_001354487.1,NM_001354484.1,NM_001354488.1,NM_001354490.1;CSGALNACT1,3_prime_UTR_variant,,ENST00000397998,;,regulatory_region_variant,,ENSR00000849098,; T ENSG00000147408 ENST00000454498 Transcript frameshift_variant 2608-2609/4232 1594-1595/1599 532/532 T/NX aca/aAca rs778908076 1 NA -1 CSGALNACT1 HGNC HGNC:24290 protein_coding YES CCDS6010.1 ENSP00000411816 Q8TDX6.152 UPI000013F19F NM_001354497.1,NM_001354492.1,NM_001354495.1,NM_001354499.1,NM_001130518.1,NM_001354491.1,NM_001354498.1 10/10 PANTHER:PTHR12369,PANTHER:PTHR12369:SF19,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 insertion 1 NA NA 1 . TGT . 1225.64 7.957e-06 NA NA NA 5.438e-05 NA 8.795e-06 NA NA 19405784 SORBS3 10174 . GRCh38 chr8 22571176 22571176 + Silent SNP C C T rs368184874 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1698C>T p.Arg566= p.R566= ENST00000240123 18/21 NA NA NA NA NA NA SORBS3,synonymous_variant,p.Arg566=,ENST00000240123,NM_005775.5;SORBS3,synonymous_variant,p.Arg224=,ENST00000523965,NM_001018003.3;SORBS3,synonymous_variant,p.Arg78=,ENST00000517962,;SORBS3,synonymous_variant,p.Arg177=,ENST00000523348,;SORBS3,downstream_gene_variant,,ENST00000522721,;SORBS3,downstream_gene_variant,,ENST00000523900,;AC037459.3,upstream_gene_variant,,ENST00000517384,;SORBS3,non_coding_transcript_exon_variant,,ENST00000521554,;SORBS3,upstream_gene_variant,,ENST00000519127,;SORBS3,downstream_gene_variant,,ENST00000521787,;SORBS3,downstream_gene_variant,,ENST00000523740,;SORBS3,non_coding_transcript_exon_variant,,ENST00000517535,;SORBS3,downstream_gene_variant,,ENST00000517500,;SORBS3,downstream_gene_variant,,ENST00000519453,;SORBS3,upstream_gene_variant,,ENST00000520207,;SORBS3,downstream_gene_variant,,ENST00000522315,; T ENSG00000120896 ENST00000240123 Transcript synonymous_variant 2081/3459 1698/2016 566/671 R cgC/cgT rs368184874 1 NA 1 SORBS3 HGNC HGNC:30907 protein_coding YES CCDS6031.1 ENSP00000240123 O60504.199 UPI00001AE6B5 NM_005775.5 18/21 PANTHER:PTHR14167,PANTHER:PTHR14167:SF54 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . GCA . 2258.6 NA NA NA NA NA NA NA NA NA 22571176 CCAR2 57805 . GRCh38 chr8 22614910 22614910 + Missense_Mutation SNP G G A rs527350374 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1114G>A p.Asp372Asn p.D372N ENST00000308511 11/21 NA NA NA NA NA NA CCAR2,missense_variant,p.Asp372Asn,ENST00000308511,NM_001363069.2;CCAR2,missense_variant,p.Asp372Asn,ENST00000389279,NM_021174.6,NM_001363068.2;CCAR2,missense_variant,p.Asp47Asn,ENST00000520861,;CCAR2,missense_variant,p.Asp64Asn,ENST00000520738,;CCAR2,missense_variant,p.Asp190Asn,ENST00000522599,;CCAR2,upstream_gene_variant,,ENST00000613179,;AC037459.2,non_coding_transcript_exon_variant,,ENST00000521025,;CCAR2,upstream_gene_variant,,ENST00000520536,;CCAR2,downstream_gene_variant,,ENST00000521020,;CCAR2,upstream_gene_variant,,ENST00000521436,; A ENSG00000158941 ENST00000308511 Transcript missense_variant 1363/4853 1114/2772 372/923 D/N Gac/Aac rs527350374,COSV100414551 1 NA 1 CCAR2 HGNC HGNC:23360 protein_coding YES CCDS34863.1 ENSP00000310670 Q8N163.173 UPI0000070A46 NM_001363069.2 tolerated(0.61) possibly_damaging(0.762) 11/21 PANTHER:PTHR14304:SF12,PANTHER:PTHR14304,Pfam:PF14443,SMART:SM01122 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 1 NA 0,1 NA NA . CGA . 4830.6 1.205e-05 NA NA NA NA NA 2.672e-05 NA NA 22614910 NKX2-6 137814 . GRCh38 chr8 23706579 23706579 + Missense_Mutation SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.20C>T p.Thr7Ile p.T7I ENST00000325017 1/2 NA NA NA NA NA NA NKX2-6,missense_variant,p.Thr7Ile,ENST00000325017,NM_001136271.2;AC012574.1,upstream_gene_variant,,ENST00000523874,;,regulatory_region_variant,,ENSR00001136078,; A ENSG00000180053 ENST00000325017 Transcript missense_variant 20/906 20/906 7/301 T/I aCc/aTc 1 NA -1 NKX2-6 HGNC HGNC:32940 protein_coding YES ENSP00000320089 A6NCS4.108 UPI000016092C NM_001136271.2 tolerated(0.07) possibly_damaging(0.898) 1/2 PANTHER:PTHR24340,PANTHER:PTHR24340:SF72 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 2 NA NA 1 . GGT . 2825.6 NA NA NA NA NA NA NA NA NA 23706579 DOCK5 80005 . GRCh38 chr8 25298968 25298968 + Missense_Mutation SNP C C T rs776922979 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.631C>T p.Arg211Trp p.R211W ENST00000276440 8/52 NA NA NA NA NA NA DOCK5,missense_variant,p.Arg211Trp,ENST00000276440,NM_024940.8;DOCK5,missense_variant,p.Ala10Val,ENST00000444569,;DOCK5,missense_variant,p.Arg211Trp,ENST00000481100,;DOCK5,non_coding_transcript_exon_variant,,ENST00000495236,; T ENSG00000147459 ENST00000276440 Transcript missense_variant 851/10246 631/5613 211/1870 R/W Cgg/Tgg rs776922979,COSV52405321 1 NA 1 DOCK5 HGNC HGNC:23476 protein_coding YES CCDS6047.1 ENSP00000276440 Q9H7D0.153 UPI000022D4F3 NM_024940.8 deleterious(0.04) possibly_damaging(0.462) 8/52 Coiled-coils_(Ncoils):Coil,PANTHER:PTHR45653:SF3,PANTHER:PTHR45653,Pfam:PF16172 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 1 NA 0,1 NA NA . GCG . 1632.6 4.426e-05 NA 2.945e-05 NA 5.481e-05 NA 7.122e-05 0.0001651 NA 25298968 FZD3 7976 . GRCh38 chr8 28562969 28562969 + Silent SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1959C>T p.Thr653= p.T653= ENST00000240093 8/8 NA NA NA NA NA NA FZD3,synonymous_variant,p.Thr653=,ENST00000240093,NM_017412.4;FZD3,synonymous_variant,p.Thr653=,ENST00000537916,NM_145866.1;FZD3,upstream_gene_variant,,ENST00000517911,;,regulatory_region_variant,,ENSR00001136539,; T ENSG00000104290 ENST00000240093 Transcript synonymous_variant 2481/13770 1959/2001 653/666 T acC/acT 1 NA 1 FZD3 HGNC HGNC:4041 protein_coding YES CCDS6069.1 ENSP00000240093 Q9NPG1.166 UPI000003156A NM_017412.4 8/8 MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . CCA . 1300.6 NA NA NA NA NA NA NA NA NA 28562969 NRG1 3084 . GRCh38 chr8 32595993 32595993 + Frame_Shift_Del DEL A A - rs1167519601 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.476del p.Lys159SerfsTer24 p.K159Sfs*24 ENST00000523534 2/13 NA NA NA NA NA NA NRG1,frameshift_variant,p.Lys70SerfsTer24,ENST00000652698,NM_001159995.3;NRG1,frameshift_variant,p.Lys91SerfsTer24,ENST00000356819,NM_013957.5;NRG1,frameshift_variant,p.Lys159SerfsTer24,ENST00000523534,;NRG1,frameshift_variant,p.Lys91SerfsTer24,ENST00000523079,NM_001160008.2;NRG1,frameshift_variant,p.Lys82SerfsTer24,ENST00000651335,;NRG1,frameshift_variant,p.Lys91SerfsTer24,ENST00000650980,NM_001160004.3;NRG1,frameshift_variant,p.Lys91SerfsTer24,ENST00000287842,NM_013956.5;NRG1,frameshift_variant,p.Lys91SerfsTer24,ENST00000405005,NM_013964.5;NRG1,frameshift_variant,p.Lys70SerfsTer24,ENST00000650866,NM_001159999.3;NRG1,frameshift_variant,p.Lys306SerfsTer24,ENST00000520407,NM_013962.2;NRG1,frameshift_variant,p.Lys70SerfsTer24,ENST00000519301,NM_001322201.2,NM_001160001.3,NM_001322202.2;NRG1,frameshift_variant,p.Lys129SerfsTer24,ENST00000652588,;NRG1,frameshift_variant,p.Lys91SerfsTer24,ENST00000521670,NM_013960.5;NRG1,frameshift_variant,p.Lys91SerfsTer24,ENST00000650919,NM_013958.3,NM_004495.4,NM_001160002.2;NRG1,frameshift_variant,p.Lys91SerfsTer24,ENST00000650967,NM_001160005.1,NM_001160007.2;NRG1,frameshift_variant,p.Lys70SerfsTer24,ENST00000651149,;NRG1,non_coding_transcript_exon_variant,,ENST00000631040,;NRG1,frameshift_variant,p.Lys70SerfsTer24,ENST00000650856,;NRG1,non_coding_transcript_exon_variant,,ENST00000651807,;NRG1,non_coding_transcript_exon_variant,,ENST00000651175,;NRG1,non_coding_transcript_exon_variant,,ENST00000650964,; - ENSG00000157168 ENST00000523534 Transcript frameshift_variant 470/2516 470/2142 157/713 Q/X cAa/ca rs1167519601 1 NA 1 NRG1 HGNC HGNC:7997 protein_coding YES ENSP00000429067 H0YBA3.58 UPI0001E8F0FD 2/13 Low_complexity_(Seg):seg,CDD:cd05895,Pfam:PF07679,Gene3D:2.60.40.10,SMART:SM00409,SMART:SM00408,Superfamily:SSF48726,PROSITE_profiles:PS50835,PANTHER:PTHR11100:SF7,PANTHER:PTHR11100 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 5 6 NA 1 . ACAA . 375.6 NA NA NA NA NA NA NA NA NA 32595992 ADGRA2 25960 . GRCh38 chr8 37833086 37833086 + Frame_Shift_Del DEL G G - NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1178del p.Gly393ValfsTer40 p.G393Vfs*40 ENST00000412232 9/19 NA NA NA NA NA NA ADGRA2,frameshift_variant,p.Gly393ValfsTer40,ENST00000412232,NM_032777.10;ADGRA2,frameshift_variant,p.Gly393ValfsTer40,ENST00000315215,;ADGRA2,downstream_gene_variant,,ENST00000428068,; - ENSG00000020181 ENST00000412232 Transcript frameshift_variant 1560/6944 1174/4017 392/1338 G/X Ggg/gg COSV104408572 1 NA 1 ADGRA2 HGNC HGNC:17849 protein_coding YES CCDS6097.2 ENSP00000406367 Q96PE1.171 UPI00004AE50D NM_032777.10 9/19 Gene3D:4.10.1240.10,PROSITE_profiles:PS50227,PANTHER:PTHR45930,PANTHER:PTHR45930:SF1,Superfamily:SSF111418 NA NA NA NA NA NA NA NA NA 1 NA NA NA NA HIGH 1 deletion 1 4 1 NA NA . GCGG . 2675.6 NA NA NA NA NA NA NA NA NA 37833085 GPAT4 137964 . GRCh38 chr8 41609669 41609670 + Frame_Shift_Ins INS - - A novel NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.251dup p.Asp84GlufsTer17 p.D84Efs*17 ENST00000396987 4/13 NA NA NA NA NA NA GPAT4,frameshift_variant,p.Asp84GlufsTer17,ENST00000396987,NM_001363198.2,NM_178819.4,NM_001363197.2;GPAT4,frameshift_variant,p.Asp38GlufsTer17,ENST00000519853,;AC009630.3,downstream_gene_variant,,ENST00000581909,;GPAT4,frameshift_variant,p.Asp84GlufsTer17,ENST00000521806,;GPAT4,upstream_gene_variant,,ENST00000519921,;GPAT4,upstream_gene_variant,,ENST00000523906,; A ENSG00000158669 ENST00000396987 Transcript frameshift_variant 1177-1178/6298 250-251/1371 84/456 D/EX gat/gAat 1 NA 1 GPAT4 HGNC HGNC:20880 protein_coding YES CCDS6117.1 ENSP00000380184 Q86UL3.143 UPI0000047FDD NM_001363198.2,NM_178819.4,NM_001363197.2 4/13 PANTHER:PTHR23063,PANTHER:PTHR23063:SF37 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 insertion 1 1 NA NA . GGA . 3128.64 NA NA NA NA NA NA NA NA NA 41609669 PRKDC 5591 . GRCh38 chr8 47837309 47837309 + Frame_Shift_Del DEL A A - rs34870758 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.7664del p.Leu2555Ter p.L2555* ENST00000314191 57/86 NA NA NA NA NA NA PRKDC,frameshift_variant,p.Leu2555Ter,ENST00000314191,NM_006904.7;PRKDC,frameshift_variant,p.Leu2555Ter,ENST00000338368,NM_001081640.2; - ENSG00000253729 ENST00000314191 Transcript frameshift_variant 7674/13459 7664/12387 2555/4128 L/X tTa/ta rs34870758 1 NA -1 PRKDC HGNC HGNC:9413 protein_coding YES CCDS75735.1 ENSP00000313420 P78527.218 UPI0000013593 NM_006904.7 57/86 PDB-ENSP_mappings:5luq.A,PDB-ENSP_mappings:5luq.B,PDB-ENSP_mappings:5w1r.A,PDB-ENSP_mappings:5y3r.C,PANTHER:PTHR11139:SF68,PANTHER:PTHR11139 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 NA NA 1 . TTAA . 3668.6 NA NA NA NA NA NA NA NA NA 47837308 RP1 6101 . GRCh38 chr8 54629558 54629558 + Silent SNP T T G novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.5676T>G p.Pro1892= p.P1892= ENST00000220676 4/4 NA NA NA NA NA NA RP1,synonymous_variant,p.Pro1892=,ENST00000220676,NM_006269.2;RP1,intron_variant,,ENST00000636932,;RP1,intron_variant,,ENST00000637698,NM_001375654.1;,regulatory_region_variant,,ENSR00001138288,; G ENSG00000104237 ENST00000220676 Transcript synonymous_variant 5795/7071 5676/6471 1892/2156 P ccT/ccG 1 NA 1 RP1 HGNC HGNC:10263 protein_coding YES CCDS6160.1 ENSP00000220676 P56715.160 UPI000013455B NM_006269.2 4/4 PANTHER:PTHR23005,PANTHER:PTHR23005:SF4 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . CTG . 6494.6 NA NA NA NA NA NA NA NA NA 54629558 UBXN2B 137886 . GRCh38 chr8 58430589 58430589 + Nonsense_Mutation SNP G G T novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.259G>T p.Glu87Ter p.E87* ENST00000399598 3/8 NA NA NA NA NA NA UBXN2B,stop_gained,p.Glu87Ter,ENST00000399598,NM_001077619.2,NM_001363181.1;UBXN2B,stop_gained,p.Glu33Ter,ENST00000521796,;UBXN2B,non_coding_transcript_exon_variant,,ENST00000522978,;UBXN2B,stop_gained,p.Glu87Ter,ENST00000523409,NM_001330535.1;UBXN2B,intron_variant,,ENST00000520732,;AC009927.1,upstream_gene_variant,,ENST00000510501,; T ENSG00000215114 ENST00000399598 Transcript stop_gained 284/4971 259/996 87/331 E/* Gaa/Taa 1 NA 1 UBXN2B HGNC HGNC:27035 protein_coding YES CCDS43741.1 ENSP00000382507 Q14CS0.111 UPI000013F1FC NM_001077619.2,NM_001363181.1 3/8 PANTHER:PTHR23333:SF14,PANTHER:PTHR23333 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 SNV 1 NA NA NA . TGA . 510.6 NA NA NA NA NA NA NA NA NA 58430589 CYP7A1 1581 . GRCh38 chr8 58494515 58494515 + Missense_Mutation SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1030C>T p.Pro344Ser p.P344S ENST00000301645 4/6 NA NA NA NA NA NA CYP7A1,missense_variant,p.Pro344Ser,ENST00000301645,NM_000780.4; A ENSG00000167910 ENST00000301645 Transcript missense_variant 1095/2877 1030/1515 344/504 P/S Cca/Tca 1 NA -1 CYP7A1 HGNC HGNC:2651 protein_coding YES CCDS6171.1 ENSP00000301645 P22680.188 UPI0000128214 NM_000780.4 tolerated(0.09) possibly_damaging(0.84) 4/6 PDB-ENSP_mappings:3dax.A,PDB-ENSP_mappings:3dax.B,PDB-ENSP_mappings:3sn5.A,PDB-ENSP_mappings:3sn5.B,PDB-ENSP_mappings:3v8d.A,PDB-ENSP_mappings:3v8d.B,PANTHER:PTHR24304:SF1,PANTHER:PTHR24304,Gene3D:1.10.630.10,PIRSF:PIRSF500625,PIRSF:PIRSF000047,Pfam:PF00067,Superfamily:SSF48264,Prints:PR00465 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . GGC . 3199.6 NA NA NA NA NA NA NA NA NA 58494515 BHLHE22 27319 . GRCh38 chr8 64581441 64581441 + Silent SNP C C T rs955256361 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.651C>T p.Gly217= p.G217= ENST00000321870 1/1 NA NA NA NA NA NA BHLHE22,synonymous_variant,p.Gly217=,ENST00000321870,NM_152414.5;AC090136.3,intron_variant,,ENST00000517909,;AC090136.3,intron_variant,,ENST00000665275,;AC090136.3,intron_variant,,ENST00000670034,;AC090136.3,upstream_gene_variant,,ENST00000520834,;AC090136.3,upstream_gene_variant,,ENST00000658391,;,regulatory_region_variant,,ENSR00000225277,; T ENSG00000180828 ENST00000321870 Transcript synonymous_variant 1077/3263 651/1146 217/381 G ggC/ggT rs955256361,COSV100418047 1 NA 1 BHLHE22 HGNC HGNC:11963 protein_coding YES CCDS6179.1 ENSP00000318799 Q8NFJ8.125 UPI0000070A3C NM_152414.5 1/1 Low_complexity_(Seg):seg,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite,PANTHER:PTHR19290,PANTHER:PTHR19290:SF52 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA LOW 1 SNV NA NA 0,1 NA NA . GCG . 1310.6 7.613e-06 NA NA NA NA NA NA NA 4.437e-05 64581441 PPP1R42 286187 . GRCh38 chr8 66982088 66982088 + Frame_Shift_Del DEL T T - novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.763del p.Arg255GlyfsTer13 p.R255Gfs*13 ENST00000522909 7/9 NA NA NA NA NA NA PPP1R42,frameshift_variant,p.Arg255GlyfsTer13,ENST00000522909,NM_001364911.2,NM_001364910.1;PPP1R42,non_coding_transcript_exon_variant,,ENST00000522331,;PPP1R42,non_coding_transcript_exon_variant,,ENST00000518588,;PPP1R42,non_coding_transcript_exon_variant,,ENST00000521998,;PPP1R42,intron_variant,,ENST00000519987,;PPP1R42,intron_variant,,ENST00000521040,;PPP1R42,intron_variant,,ENST00000521410,;AC110998.1,downstream_gene_variant,,ENST00000519029,; - ENSG00000178125 ENST00000522909 Transcript frameshift_variant 948/1282 763/930 255/309 R/X Agg/gg 1 NA -1 PPP1R42 HGNC HGNC:33732 protein_coding YES ENSP00000429721 Q7Z4L9.141 UPI0000EE3EB8 NM_001364911.2,NM_001364910.1 7/9 Low_complexity_(Seg):seg,PANTHER:PTHR45973:SF3,PANTHER:PTHR45973,Gene3D:3.80.10.10 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 5 NA NA NA . CCTT . 177.6 NA NA NA NA NA NA NA NA NA 66982087 KCNB2 9312 . GRCh38 chr8 72567754 72567754 + Missense_Mutation SNP C C G NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.20C>G p.Pro7Arg p.P7R ENST00000523207 2/3 NA NA NA NA NA NA KCNB2,missense_variant,p.Pro7Arg,ENST00000523207,NM_004770.3; G ENSG00000182674 ENST00000523207 Transcript missense_variant 774/3748 20/2736 7/911 P/R cCg/cGg COSV73049259,COSV73051908 1 NA 1 KCNB2 HGNC HGNC:6232 protein_coding YES CCDS6209.1 ENSP00000430846 Q92953.176 UPI000012DC85 NM_004770.3 tolerated_low_confidence(0.47) possibly_damaging(0.648) 2/3 MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA 1,1 NA NA NA NA MODERATE 1 SNV 1 NA 1,1 NA NA . CCG . 546.6 NA NA NA NA NA NA NA NA NA 72567754 C8orf89 0 . GRCh38 chr8 73241486 73241486 + Frame_Shift_Del DEL T T - rs951061763 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.457del p.Ser153AlafsTer16 p.S153Afs*16 ENST00000624510 4/4 NA NA NA NA NA NA C8orf89,frameshift_variant,p.Ser153AlafsTer16,ENST00000624510,NM_001243237.1;C8orf89,3_prime_UTR_variant,,ENST00000625134,;C8orf89,3_prime_UTR_variant,,ENST00000613105,; - ENSG00000274443 ENST00000624510 Transcript frameshift_variant 501/658 457/486 153/161 S/X Agc/gc rs951061763 1 NA -1 C8orf89 HGNC HGNC:51258 protein_coding YES CCDS75752.1 ENSP00000485524 P0DMQ9.30 UPI00001D82FB NM_001243237.1 4/4 Pfam:PF17690,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 3 NA NA NA . GCTT . 1674.6 0.0001124 NA 9.02e-05 NA NA 0.0001975 0.0001622 0.0002588 9.543e-05 73241485 CA13 377677 . GRCh38 chr8 85266694 85266695 + Frame_Shift_Ins INS - - T novel NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.446dup p.Leu149PhefsTer5 p.L149Ffs*5 ENST00000321764 4/7 NA NA NA NA NA NA CA13,frameshift_variant,p.Leu149PhefsTer5,ENST00000321764,NM_198584.3;CA13,non_coding_transcript_exon_variant,,ENST00000517298,; T ENSG00000185015 ENST00000321764 Transcript frameshift_variant 812-813/3884 441-442/789 147-148/262 -/X -/T 1 NA 1 CA13 HGNC HGNC:14914 protein_coding YES CCDS6236.1 ENSP00000318912 Q8N1Q1.152 UPI000004BEFC NM_198584.3 4/7 Gene3D:3.10.200.10,PDB-ENSP_mappings:3czv.A,PDB-ENSP_mappings:3czv.B,PDB-ENSP_mappings:3d0n.A,PDB-ENSP_mappings:3d0n.B,PDB-ENSP_mappings:3da2.A,PDB-ENSP_mappings:3da2.B,PDB-ENSP_mappings:4hu1.A,PDB-ENSP_mappings:4hu1.B,PDB-ENSP_mappings:4knm.A,PDB-ENSP_mappings:4knm.B,PDB-ENSP_mappings:4knn.A,PDB-ENSP_mappings:4knn.B,PDB-ENSP_mappings:4qiz.A,PDB-ENSP_mappings:4qiz.B,PDB-ENSP_mappings:4qjp.A,PDB-ENSP_mappings:4qjp.B,PDB-ENSP_mappings:4qjx.A,PDB-ENSP_mappings:4qsj.A,PDB-ENSP_mappings:4qsj.B,PDB-ENSP_mappings:5e2n.A,PDB-ENSP_mappings:5e2n.B,PDB-ENSP_mappings:5lla.A,PDB-ENSP_mappings:5lla.B,PDB-ENSP_mappings:5lln.A,PDB-ENSP_mappings:5lln.B,PDB-ENSP_mappings:5ogj.A,PDB-ENSP_mappings:5ogj.B,PDB-ENSP_mappings:5ohh.A,PDB-ENSP_mappings:5ohh.B,PDB-ENSP_mappings:6g5u.A,PDB-ENSP_mappings:6g5u.B,Pfam:PF00194,PROSITE_profiles:PS51144,PANTHER:PTHR18952,PANTHER:PTHR18952:SF81,SMART:SM01057,Superfamily:SSF51069,CDD:cd03119 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 insertion 1 5 NA NA . TGT . 2180.64 NA NA NA NA NA NA NA NA NA 85266694 CPNE3 8895 . GRCh38 chr8 86558295 86558297 + In_Frame_Del DEL AAG AAG - rs760930651 NA HCI-EC-23 NORMAL AAG AAG NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1502_1504del p.Glu501del p.E501del ENST00000517490 17/17 NA NA NA NA NA NA CPNE3,inframe_deletion,p.Glu501del,ENST00000517490,NM_003909.5;CNGB3,intron_variant,,ENST00000517327,;CPNE3,non_coding_transcript_exon_variant,,ENST00000614678,;CPNE3,downstream_gene_variant,,ENST00000517354,;,regulatory_region_variant,,ENSR00000861108,;,regulatory_region_variant,,ENSR00001140536,; - ENSG00000085719 ENST00000517490 Transcript inframe_deletion 1654-1656/4857 1499-1501/1614 500-501/537 KE/K aAAGaa/aaa rs760930651 1 NA 1 CPNE3 HGNC HGNC:2316 protein_coding YES CCDS6243.1 ENSP00000477590 O75131.172 A0A024R994.53 UPI0000127C13 NM_003909.5 17/17 CDD:cd01459,PANTHER:PTHR10857:SF22,PANTHER:PTHR10857,Pfam:PF07002 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 deletion 1 3 NA NA . AAAAGA . 2211.6 3.978e-06 NA 2.892e-05 NA NA NA NA NA NA 86558294 SLC26A7 115111 . GRCh38 chr8 91369792 91369792 + Missense_Mutation SNP A A G novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1634A>G p.Gln545Arg p.Q545R ENST00000309536 15/19 NA NA NA NA NA NA SLC26A7,missense_variant,p.Gln545Arg,ENST00000617233,;SLC26A7,missense_variant,p.Gln545Arg,ENST00000276609,NM_052832.4;SLC26A7,missense_variant,p.Gln244Arg,ENST00000617078,NM_001282357.2;SLC26A7,missense_variant,p.Gln545Arg,ENST00000523719,NM_001282356.2;SLC26A7,missense_variant,p.Gln545Arg,ENST00000309536,NM_134266.2;SLC26A7,non_coding_transcript_exon_variant,,ENST00000520249,;SLC26A7,non_coding_transcript_exon_variant,,ENST00000517930,;SLC26A7,3_prime_UTR_variant,,ENST00000522181,; G ENSG00000147606 ENST00000309536 Transcript missense_variant 1854/2656 1634/1992 545/663 Q/R cAa/cGa 1 NA 1 SLC26A7 HGNC HGNC:14467 protein_coding YES CCDS6255.1 ENSP00000309504 Q8TE54.123 UPI0000046B1C NM_134266.2 tolerated(0.43) benign(0.121) 15/19 PROSITE_profiles:PS50801,CDD:cd07042,PANTHER:PTHR11814:SF75,PANTHER:PTHR11814,Gene3D:3.30.750.24,Pfam:PF01740,Superfamily:SSF52091 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CAA . 175.6 NA NA NA NA NA NA NA NA NA 91369792 MATN2 4147 . GRCh38 chr8 98003699 98003699 + Missense_Mutation SNP C C T rs765983363 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1243C>T p.His415Tyr p.H415Y ENST00000254898 8/19 NA NA NA NA NA NA MATN2,missense_variant,p.His415Tyr,ENST00000254898,NM_002380.5;MATN2,missense_variant,p.His415Tyr,ENST00000521689,NM_030583.4;MATN2,missense_variant,p.His415Tyr,ENST00000520016,;MATN2,missense_variant,p.His374Tyr,ENST00000524308,NM_001317748.2;MATN2,missense_variant,p.His131Tyr,ENST00000522025,;MATN2,missense_variant,p.His198Tyr,ENST00000518154,;MATN2,missense_variant,p.His119Tyr,ENST00000522270,;MATN2,missense_variant,p.His170Tyr,ENST00000521041,;MATN2,non_coding_transcript_exon_variant,,ENST00000523490,;MATN2,upstream_gene_variant,,ENST00000521952,; T ENSG00000132561 ENST00000254898 Transcript missense_variant 1493/4133 1243/2871 415/956 H/Y Cat/Tat rs765983363 1 NA 1 MATN2 HGNC HGNC:6908 protein_coding YES CCDS55264.1 ENSP00000254898 O00339.193 A0A140VKH7.29 UPI000021037B NM_002380.5 deleterious(0.05) possibly_damaging(0.791) 8/19 Gene3D:2.10.25.10,PROSITE_profiles:PS50026,PANTHER:PTHR24020,PANTHER:PTHR24020:SF35,SMART:SM00179,SMART:SM00181,Superfamily:SSF57184,Superfamily:SSF57184,CDD:cd00054 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . GCA . 3212.6 4.012e-06 NA NA NA NA NA 8.852e-06 NA NA 98003699 VPS13B 157680 . GRCh38 chr8 99854044 99854044 + Missense_Mutation SNP G G T novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.10730G>T p.Arg3577Met p.R3577M ENST00000358544 56/62 NA NA NA NA NA NA VPS13B,missense_variant,p.Arg3577Met,ENST00000358544,NM_017890.5;VPS13B,missense_variant,p.Arg3552Met,ENST00000357162,NM_152564.5; T ENSG00000132549 ENST00000358544 Transcript missense_variant 10841/14094 10730/12069 3577/4022 R/M aGg/aTg 1 NA 1 VPS13B HGNC HGNC:2183 protein_coding YES CCDS6280.1 ENSP00000351346 Q7Z7G8.140 UPI00001D2D35 NM_017890.5 deleterious(0.04) benign(0) 56/62 PANTHER:PTHR12517 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . AGG . 5325.6 NA NA NA NA NA NA NA NA NA 99854044 RGS22 26166 . GRCh38 chr8 99977950 99977950 + Frame_Shift_Del DEL T T - rs771652823 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3486del p.Lys1162AsnfsTer5 p.K1162Nfs*5 ENST00000360863 23/28 NA NA NA NA NA NA RGS22,frameshift_variant,p.Lys1149AsnfsTer5,ENST00000617334,;RGS22,frameshift_variant,p.Lys1162AsnfsTer5,ENST00000360863,NM_015668.5;RGS22,frameshift_variant,p.Lys981AsnfsTer5,ENST00000523287,NM_001286693.2;RGS22,frameshift_variant,p.Lys1150AsnfsTer5,ENST00000523437,NM_001286692.2;RGS22,frameshift_variant,p.Lys34AsnfsTer5,ENST00000517843,;RGS22,non_coding_transcript_exon_variant,,ENST00000517769,; - ENSG00000132554 ENST00000360863 Transcript frameshift_variant 3614/4229 3486/3795 1162/1264 K/X aaA/aa rs771652823,COSV62665163 1 NA -1 RGS22 HGNC HGNC:24499 protein_coding YES CCDS43758.1 ENSP00000354109 Q8NE09.124 UPI0000E5AF25 NM_015668.5 23/28 Coiled-coils_(Ncoils):Coil,PANTHER:PTHR46583 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA HIGH 1 deletion 1 NA 0,1 NA NA . AATT . 621.6 7.421e-05 0.0001687 0.0001672 0.0001266 8.524e-05 NA 6.383e-05 NA 4.842e-05 99977949 RNF19A 25897 . GRCh38 chr8 100287988 100287988 + Frame_Shift_Del DEL T T - novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.187del p.Arg63GlufsTer5 p.R63Efs*5 ENST00000519449 3/11 NA NA NA NA NA NA RNF19A,frameshift_variant,p.Arg63GlufsTer5,ENST00000519449,NM_015435.4,NM_001353837.1;RNF19A,frameshift_variant,p.Arg63GlufsTer5,ENST00000341084,NM_001280539.2,NM_183419.4,NM_001353838.2;RNF19A,frameshift_variant,p.Arg63GlufsTer5,ENST00000519527,;RNF19A,frameshift_variant,p.Arg63GlufsTer5,ENST00000523167,;RNF19A,frameshift_variant,p.Arg63GlufsTer5,ENST00000522369,;RNF19A,frameshift_variant,p.Arg63GlufsTer5,ENST00000432381,;RNF19A,frameshift_variant,p.Arg32GlufsTer5,ENST00000517584,;RNF19A,downstream_gene_variant,,ENST00000523481,; - ENSG00000034677 ENST00000519449 Transcript frameshift_variant 504/4330 187/2517 63/838 R/X Aga/ga 1 NA -1 RNF19A HGNC HGNC:13432 protein_coding YES CCDS6286.1 ENSP00000428968 Q9NV58.177 UPI000013D5E6 NM_015435.4,NM_001353837.1 3/11 PANTHER:PTHR11685,PANTHER:PTHR11685:SF111 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 NA NA NA . TCTT . 2958.6 NA NA NA NA NA NA NA NA NA 100287987 UBR5 51366 . GRCh38 chr8 102259071 102259071 + Missense_Mutation SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.8015C>T p.Ala2672Val p.A2672V ENST00000520539 57/59 NA NA NA NA NA NA UBR5,missense_variant,p.Ala2672Val,ENST00000520539,NM_015902.6;UBR5,missense_variant,p.Ala2671Val,ENST00000220959,NM_001282873.1;UBR5,missense_variant,p.Ala2665Val,ENST00000521922,;UBR5,missense_variant,p.Ala400Val,ENST00000518205,;AP002907.1,downstream_gene_variant,,ENST00000606361,;UBR5,non_coding_transcript_exon_variant,,ENST00000517465,; A ENSG00000104517 ENST00000520539 Transcript missense_variant 8481/10895 8015/8400 2672/2799 A/V gCa/gTa 1 NA -1 UBR5 HGNC HGNC:16806 protein_coding YES CCDS34933.1 ENSP00000429084 O95071.209 UPI0000129BCB NM_015902.6 deleterious(0.01) possibly_damaging(0.826) 57/59 Pfam:PF00632,PROSITE_profiles:PS50237,PANTHER:PTHR46276,SMART:SM00119,Superfamily:SSF56204 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . TGC . 1433.6 NA NA NA NA NA NA NA NA NA 102259071 UBR5 51366 . GRCh38 chr8 102269073 102269073 + Silent SNP T T C novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.7266A>G p.Glu2422= p.E2422= ENST00000520539 51/59 NA NA NA NA NA NA UBR5,synonymous_variant,p.Glu2422=,ENST00000520539,NM_015902.6;UBR5,synonymous_variant,p.Glu2422=,ENST00000220959,NM_001282873.1;UBR5,synonymous_variant,p.Glu2416=,ENST00000521922,;UBR5,synonymous_variant,p.Glu151=,ENST00000518205,;UBR5,downstream_gene_variant,,ENST00000521566,;UBR5,upstream_gene_variant,,ENST00000521312,;UBR5,upstream_gene_variant,,ENST00000521767,; C ENSG00000104517 ENST00000520539 Transcript synonymous_variant 7732/10895 7266/8400 2422/2799 E gaA/gaG 1 NA -1 UBR5 HGNC HGNC:16806 protein_coding YES CCDS34933.1 ENSP00000429084 O95071.209 UPI0000129BCB NM_015902.6 51/59 Gene3D:1.10.1900.10,PDB-ENSP_mappings:1i2t.A,Pfam:PF00658,PROSITE_profiles:PS51309,PANTHER:PTHR46276,SMART:SM00517,Superfamily:SSF56204,Superfamily:SSF63570,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . ATT . 38.6 NA NA NA NA NA NA NA NA NA 102269073 UBR5 51366 . GRCh38 chr8 102269081 102269081 + Silent SNP A A G novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.7258T>C p.Leu2420= p.L2420= ENST00000520539 51/59 NA NA NA NA NA NA UBR5,synonymous_variant,p.Leu2420=,ENST00000520539,NM_015902.6;UBR5,synonymous_variant,p.Leu2420=,ENST00000220959,NM_001282873.1;UBR5,synonymous_variant,p.Leu2414=,ENST00000521922,;UBR5,synonymous_variant,p.Leu149=,ENST00000518205,;UBR5,downstream_gene_variant,,ENST00000521566,;UBR5,upstream_gene_variant,,ENST00000521312,;UBR5,upstream_gene_variant,,ENST00000521767,; G ENSG00000104517 ENST00000520539 Transcript synonymous_variant 7724/10895 7258/8400 2420/2799 L Ttg/Ctg 1 NA -1 UBR5 HGNC HGNC:16806 protein_coding YES CCDS34933.1 ENSP00000429084 O95071.209 UPI0000129BCB NM_015902.6 51/59 Gene3D:1.10.1900.10,PDB-ENSP_mappings:1i2t.A,Pfam:PF00658,PROSITE_profiles:PS51309,PANTHER:PTHR46276,SMART:SM00517,Superfamily:SSF56204,Superfamily:SSF63570,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . AAC . 44.6 NA NA NA NA NA NA NA NA NA 102269081 OXR1 55074 . GRCh38 chr8 106745843 106745843 + Silent SNP C C T rs1318654816 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2470C>T p.Leu824= p.L824= ENST00000442977 15/16 NA NA NA NA NA NA OXR1,synonymous_variant,p.Leu823=,ENST00000517566,NM_001198533.1;OXR1,synonymous_variant,p.Leu789=,ENST00000312046,NM_181354.4;OXR1,synonymous_variant,p.Leu796=,ENST00000531443,NM_018002.3;OXR1,synonymous_variant,p.Leu824=,ENST00000442977,NM_001198532.1;OXR1,synonymous_variant,p.Leu166=,ENST00000449762,NM_001198535.1;OXR1,synonymous_variant,p.Leu468=,ENST00000519415,;OXR1,synonymous_variant,p.Leu193=,ENST00000297447,NM_001198534.1;OXR1,synonymous_variant,p.Leu69=,ENST00000521592,;OXR1,3_prime_UTR_variant,,ENST00000435082,;OXR1,downstream_gene_variant,,ENST00000521864,; T ENSG00000164830 ENST00000442977 Transcript synonymous_variant 2569/2956 2470/2625 824/874 L Cta/Tta rs1318654816 1 NA 1 OXR1 HGNC HGNC:15822 protein_coding YES CCDS56548.1 ENSP00000405424 Q8N573.156 UPI0001914BEA NM_001198532.1 15/16 PROSITE_profiles:PS51886,PANTHER:PTHR23354,PANTHER:PTHR23354:SF69,Pfam:PF07534,SMART:SM00584 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 2 NA NA 1 . ACT . 86.6 NA NA NA NA NA NA NA NA NA 106745843 OXR1 55074 . GRCh38 chr8 106745848 106745848 + Silent SNP T T A novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2475T>A p.Ala825= p.A825= ENST00000442977 15/16 NA NA NA NA NA NA OXR1,synonymous_variant,p.Ala824=,ENST00000517566,NM_001198533.1;OXR1,synonymous_variant,p.Ala790=,ENST00000312046,NM_181354.4;OXR1,synonymous_variant,p.Ala797=,ENST00000531443,NM_018002.3;OXR1,synonymous_variant,p.Ala825=,ENST00000442977,NM_001198532.1;OXR1,synonymous_variant,p.Ala167=,ENST00000449762,NM_001198535.1;OXR1,synonymous_variant,p.Ala469=,ENST00000519415,;OXR1,synonymous_variant,p.Ala194=,ENST00000297447,NM_001198534.1;OXR1,synonymous_variant,p.Ala70=,ENST00000521592,;OXR1,3_prime_UTR_variant,,ENST00000435082,;OXR1,downstream_gene_variant,,ENST00000521864,; A ENSG00000164830 ENST00000442977 Transcript synonymous_variant 2574/2956 2475/2625 825/874 A gcT/gcA 1 NA 1 OXR1 HGNC HGNC:15822 protein_coding YES CCDS56548.1 ENSP00000405424 Q8N573.156 UPI0001914BEA NM_001198532.1 15/16 PROSITE_profiles:PS51886,PANTHER:PTHR23354,PANTHER:PTHR23354:SF69,Pfam:PF07534,SMART:SM00584 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 2 NA NA 1 . CTT . 77.6 NA NA NA NA NA NA NA NA NA 106745848 OXR1 55074 . GRCh38 chr8 106745851 106745851 + Silent SNP C C T rs776682676 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2478C>T p.Phe826= p.F826= ENST00000442977 15/16 NA NA NA NA NA NA OXR1,synonymous_variant,p.Phe825=,ENST00000517566,NM_001198533.1;OXR1,synonymous_variant,p.Phe791=,ENST00000312046,NM_181354.4;OXR1,synonymous_variant,p.Phe798=,ENST00000531443,NM_018002.3;OXR1,synonymous_variant,p.Phe826=,ENST00000442977,NM_001198532.1;OXR1,synonymous_variant,p.Phe168=,ENST00000449762,NM_001198535.1;OXR1,synonymous_variant,p.Phe470=,ENST00000519415,;OXR1,synonymous_variant,p.Phe195=,ENST00000297447,NM_001198534.1;OXR1,synonymous_variant,p.Phe71=,ENST00000521592,;OXR1,3_prime_UTR_variant,,ENST00000435082,;OXR1,downstream_gene_variant,,ENST00000521864,; T ENSG00000164830 ENST00000442977 Transcript synonymous_variant 2577/2956 2478/2625 826/874 F ttC/ttT rs776682676,COSV52428309 1 NA 1 OXR1 HGNC HGNC:15822 protein_coding YES CCDS56548.1 ENSP00000405424 Q8N573.156 UPI0001914BEA NM_001198532.1 15/16 PROSITE_profiles:PS51886,PANTHER:PTHR23354,PANTHER:PTHR23354:SF69,Pfam:PF07534,SMART:SM00584 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA LOW 1 SNV 2 NA 0,1 NA 1 . TCG . 77.6 2.003e-05 NA 0.0001176 NA NA NA NA NA 3.298e-05 106745851 RSPO2 340419 . GRCh38 chr8 107989134 107989134 + Missense_Mutation SNP G G A rs758888137 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.205C>T p.Arg69Cys p.R69C ENST00000276659 3/6 NA NA NA NA NA NA RSPO2,missense_variant,p.Arg69Cys,ENST00000276659,NM_178565.5;RSPO2,missense_variant,p.Arg2Cys,ENST00000517939,NM_001317942.1;RSPO2,missense_variant,p.Arg69Cys,ENST00000522333,;RSPO2,missense_variant,p.Arg69Cys,ENST00000521956,;RSPO2,intron_variant,,ENST00000517781,NM_001282863.1;RSPO2,non_coding_transcript_exon_variant,,ENST00000521502,;RSPO2,non_coding_transcript_exon_variant,,ENST00000520026,;RSPO2,non_coding_transcript_exon_variant,,ENST00000521757,;RSPO2,3_prime_UTR_variant,,ENST00000666252,; A ENSG00000147655 ENST00000276659 Transcript missense_variant 798/3084 205/732 69/243 R/C Cgc/Tgc rs758888137,COSV52641662 1 NA -1 RSPO2 HGNC HGNC:28583 protein_coding YES CCDS6307.1 ENSP00000276659 Q6UXX9.134 UPI000021046F NM_178565.5 deleterious(0) probably_damaging(0.996) 3/6 PANTHER:PTHR23275,PANTHER:PTHR23275:SF79,Gene3D:2.10.220.10,Pfam:PF15913,SMART:SM00261,Superfamily:SSF57184 NA NA NA NA NA NA NA NA NA pathogenic 0,1 29769720 NA NA NA NA MODERATE 1 SNV 1 NA 1,1 NA 1 . CGC . 2430.6 NA NA NA NA NA NA NA NA NA 107989134 CSMD3 114788 . GRCh38 chr8 112244422 112244422 + Silent SNP G G T NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.10374C>A p.Thr3458= p.T3458= ENST00000297405 65/71 NA NA NA NA NA NA CSMD3,synonymous_variant,p.Thr3458=,ENST00000297405,NM_001363185.1,NM_198123.2;CSMD3,synonymous_variant,p.Thr3418=,ENST00000343508,NM_198124.2;CSMD3,synonymous_variant,p.Thr3289=,ENST00000455883,NM_052900.3;CSMD3,synonymous_variant,p.Thr2728=,ENST00000339701,;CSMD3,non_coding_transcript_exon_variant,,ENST00000534172,; T ENSG00000164796 ENST00000297405 Transcript synonymous_variant 10459/13052 10374/11124 3458/3707 T acC/acA COSV52199087,COSV99847252 1 NA -1 CSMD3 HGNC HGNC:19291 protein_coding YES CCDS6315.1 ENSP00000297405 Q7Z407.139 UPI00001E0584 NM_001363185.1,NM_198123.2 65/71 Gene3D:2.10.70.10,Pfam:PF00084,PROSITE_profiles:PS50923,PANTHER:PTHR45656,PANTHER:PTHR45656:SF9,SMART:SM00032,Superfamily:SSF57535,CDD:cd00033 NA NA NA NA NA NA NA NA NA 1,1 NA NA NA NA LOW 1 SNV 1 NA 1,1 NA 1 . AGG . 683.6 NA NA NA NA NA NA NA NA NA 112244422 SAMD12 401474 . GRCh38 chr8 118379633 118379633 + Silent SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.390G>A p.Arg130= p.R130= ENST00000314727 4/4 NA NA NA NA NA NA SAMD12,synonymous_variant,p.Arg120=,ENST00000409003,NM_001349811.2;SAMD12,synonymous_variant,p.Arg130=,ENST00000314727,NM_001363274.2,NM_207506.3;SAMD12,synonymous_variant,p.Arg130=,ENST00000524796,NM_001101676.2;AC023590.1,intron_variant,,ENST00000430457,;SAMD12,non_coding_transcript_exon_variant,,ENST00000453675,;SAMD12,non_coding_transcript_exon_variant,,ENST00000526328,;SAMD12,non_coding_transcript_exon_variant,,ENST00000526765,;SAMD12,non_coding_transcript_exon_variant,,ENST00000649198,;SAMD12,3_prime_UTR_variant,,ENST00000445741,;,regulatory_region_variant,,ENSR00001143041,; T ENSG00000177570 ENST00000314727 Transcript synonymous_variant 537/2186 390/606 130/201 R cgG/cgA 1 NA -1 SAMD12 HGNC HGNC:31750 protein_coding YES CCDS6325.1 ENSP00000314173 Q8N8I0.109 UPI000013F8F1 NM_001363274.2,NM_207506.3 4/4 PROSITE_profiles:PS50105,CDD:cd09510,PANTHER:PTHR20843:SF2,PANTHER:PTHR20843,Gene3D:1.10.150.50,Pfam:PF07647,SMART:SM00454,Superfamily:SSF47769 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . GCC . 2299.6 NA NA NA NA NA NA NA NA NA 118379633 TNFRSF11B 4982 . GRCh38 chr8 118928868 118928868 + Silent SNP C C T rs772668399 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.462G>A p.Thr154= p.T154= ENST00000297350 3/5 NA NA NA NA NA NA TNFRSF11B,synonymous_variant,p.Thr154=,ENST00000297350,NM_002546.4;TNFRSF11B,3_prime_UTR_variant,,ENST00000517352,;TNFRSF11B,non_coding_transcript_exon_variant,,ENST00000521597,; T ENSG00000164761 ENST00000297350 Transcript synonymous_variant 526/2087 462/1206 154/401 T acG/acA rs772668399,COSV52074435 1 NA -1 TNFRSF11B HGNC HGNC:11909 protein_coding YES CCDS6326.1 ENSP00000297350 O00300.169 UPI0000157F05 NM_002546.4 3/5 PDB-ENSP_mappings:3urf.Z,PANTHER:PTHR23097,PANTHER:PTHR23097:SF90,Gene3D:3.10.360.30,PIRSF:PIRSF038065,SMART:SM00208,SMART:SM01411,Superfamily:SSF57586 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA LOW 1 SNV 1 NA 0,1 NA 1 . ACG . 5009.6 1.989e-05 NA 5.783e-05 NA NA NA 1.759e-05 NA 3.267e-05 118928868 COLEC10 10584 . GRCh38 chr8 119089692 119089692 + Frame_Shift_Del DEL A A - rs755714967 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.165del p.Gly56GlufsTer87 p.G56Efs*87 ENST00000332843 2/6 NA NA NA NA NA NA COLEC10,frameshift_variant,p.Gly56GlufsTer87,ENST00000332843,NM_001324095.2,NM_006438.5;COLEC10,non_coding_transcript_exon_variant,,ENST00000521788,; - ENSG00000184374 ENST00000332843 Transcript frameshift_variant 196/3133 161/834 54/277 E/X gAa/ga rs755714967 1 NA 1 COLEC10 HGNC HGNC:2220 protein_coding YES CCDS6327.1 ENSP00000332723 Q9Y6Z7.145 A0A024R9J3.41 UPI00001B01DD NM_001324095.2,NM_006438.5 2/6 Low_complexity_(Seg):seg,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite,PANTHER:PTHR24024,PANTHER:PTHR24024:SF20,Pfam:PF01391 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 4 NA 1 . TGAA . 3217.6 3.994e-06 NA NA NA 5.466e-05 NA NA NA NA 119089691 HAS2 3037 . GRCh38 chr8 121614185 121614185 + Missense_Mutation SNP G G A rs764107265 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1583C>T p.Thr528Met p.T528M ENST00000303924 4/4 NA NA NA NA NA NA HAS2,missense_variant,p.Thr528Met,ENST00000303924,NM_005328.3;,regulatory_region_variant,,ENSR00001143381,; A ENSG00000170961 ENST00000303924 Transcript missense_variant 2171/4240 1583/1659 528/552 T/M aCg/aTg rs764107265,COSV100392337 1 NA -1 HAS2 HGNC HGNC:4819 protein_coding YES CCDS6335.1 ENSP00000306991 Q92819.152 UPI000012C0A9 NM_005328.3 tolerated(0.36) benign(0.007) 4/4 PANTHER:PTHR22913,PANTHER:PTHR22913:SF7,Transmembrane_helices:TMhelix NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 1 NA 0,1 NA NA . CGT . 4442.6 1.592e-05 NA NA NA NA NA 3.523e-05 NA NA 121614185 HAS2 3037 . GRCh38 chr8 121614635 121614635 + Missense_Mutation SNP T T C novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1133A>G p.Tyr378Cys p.Y378C ENST00000303924 4/4 NA NA NA NA NA NA HAS2,missense_variant,p.Tyr378Cys,ENST00000303924,NM_005328.3; C ENSG00000170961 ENST00000303924 Transcript missense_variant 1721/4240 1133/1659 378/552 Y/C tAc/tGc 1 NA -1 HAS2 HGNC HGNC:4819 protein_coding YES CCDS6335.1 ENSP00000306991 Q92819.152 UPI000012C0A9 NM_005328.3 deleterious(0) probably_damaging(0.996) 4/4 PANTHER:PTHR22913,PANTHER:PTHR22913:SF7,Superfamily:SSF53448,Transmembrane_helices:TMhelix NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . GTA . 5662.6 NA NA NA NA NA NA NA NA NA 121614635 ATAD2 29028 . GRCh38 chr8 123323039 123323039 + Frame_Shift_Del DEL T T - novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4030del p.Ser1344ValfsTer15 p.S1344Vfs*15 ENST00000287394 27/28 NA NA NA NA NA NA ATAD2,frameshift_variant,p.Ser1344ValfsTer15,ENST00000287394,NM_014109.4;ATAD2,frameshift_variant,p.Ser662ValfsTer15,ENST00000521903,;ATAD2,3_prime_UTR_variant,,ENST00000517666,;ATAD2,3_prime_UTR_variant,,ENST00000519124,; - ENSG00000156802 ENST00000287394 Transcript frameshift_variant 4120/5547 4030/4173 1344/1390 S/X Agt/gt 1 NA -1 ATAD2 HGNC HGNC:30123 protein_coding YES CCDS6343.1 ENSP00000287394 Q6PL18.148 A0A024R9G7.54 UPI0000052A8C NM_014109.4 27/28 PANTHER:PTHR23069,PANTHER:PTHR23069:SF4 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 NA NA NA . ACTT . 1429.6 NA NA NA NA NA NA NA NA NA 123323038 FER1L6 654463 . GRCh38 chr8 124060625 124060625 + Silent SNP C C T rs369624500 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3063C>T p.Cys1021= p.C1021= ENST00000522917 24/41 NA NA NA NA NA NA FER1L6,synonymous_variant,p.Cys1021=,ENST00000522917,NM_001039112.2;FER1L6-AS2,non_coding_transcript_exon_variant,,ENST00000669903,;FER1L6-AS2,non_coding_transcript_exon_variant,,ENST00000661827,;FER1L6-AS2,non_coding_transcript_exon_variant,,ENST00000520031,; T ENSG00000214814 ENST00000522917 Transcript synonymous_variant 3269/6051 3063/5574 1021/1857 C tgC/tgT rs369624500,COSV67548672 1 NA 1 FER1L6 HGNC HGNC:28065 protein_coding YES CCDS43767.1 ENSP00000428280 Q2WGJ9.111 UPI0000E9B4AA NM_001039112.2 24/41 PANTHER:PTHR12546,PANTHER:PTHR12546:SF37,Superfamily:SSF49562 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA LOW 1 SNV 1 NA 0,1 NA NA . GCG . 3071.6 5.173e-05 0.0001845 2.891e-05 NA 0.0002178 NA 4.401e-05 NA NA 124060625 POU5F1B 5462 . GRCh38 chr8 127415903 127415903 + Frame_Shift_Del DEL C C - novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.41del p.Pro14LeufsTer20 p.P14Lfs*20 ENST00000465342 3/3 NA NA NA NA NA NA POU5F1B,frameshift_variant,p.Pro14LeufsTer20,ENST00000465342,;POU5F1B,frameshift_variant,p.Pro14LeufsTer20,ENST00000645438,NM_001159542.2;CASC8,intron_variant,,ENST00000501396,;CASC8,intron_variant,,ENST00000502082,;CASC8,intron_variant,,ENST00000523825,;PCAT1,intron_variant,,ENST00000645215,;PCAT1,downstream_gene_variant,,ENST00000644594,; - ENSG00000212993 ENST00000465342 Transcript frameshift_variant 602/4765 37/1080 13/359 P/X Ccc/cc 1 NA 1 POU5F1B HGNC HGNC:9223 protein_coding YES CCDS55274.1 ENSP00000419298 Q06416.161 UPI000013F18B 3/3 Low_complexity_(Seg):seg,MobiDB_lite:mobidb-lite,PANTHER:PTHR11636,PANTHER:PTHR11636:SF86 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH NA deletion 3 4 NA NA . CGCC . 3091.6 NA NA NA NA NA NA NA NA NA 127415902 AGO2 27161 . GRCh38 chr8 140558553 140558553 + Silent SNP C C T rs150148694 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.810G>A p.Thr270= p.T270= ENST00000220592 7/19 NA NA NA NA NA NA AGO2,synonymous_variant,p.Thr270=,ENST00000220592,NM_012154.5;AGO2,synonymous_variant,p.Thr270=,ENST00000519980,NM_001164623.3;AGO2,3_prime_UTR_variant,,ENST00000523609,;AGO2,upstream_gene_variant,,ENST00000521325,;,regulatory_region_variant,,ENSR00000871919,; T ENSG00000123908 ENST00000220592 Transcript synonymous_variant 937/14595 810/2580 270/859 T acG/acA rs150148694 1 NA -1 AGO2 HGNC HGNC:3263 protein_coding YES CCDS6380.1 ENSP00000220592 Q9UKV8.190 UPI0000168652 NM_012154.5 7/19 Gene3D:2.170.260.10,PDB-ENSP_mappings:4f3t.A,PDB-ENSP_mappings:4ola.A,PDB-ENSP_mappings:4olb.A,PDB-ENSP_mappings:4w5n.A,PDB-ENSP_mappings:4w5o.A,PDB-ENSP_mappings:4w5q.A,PDB-ENSP_mappings:4w5r.A,PDB-ENSP_mappings:4w5t.A,PDB-ENSP_mappings:4z4c.A,PDB-ENSP_mappings:4z4d.A,PDB-ENSP_mappings:4z4e.A,PDB-ENSP_mappings:4z4f.A,PDB-ENSP_mappings:4z4g.A,PDB-ENSP_mappings:4z4h.A,PDB-ENSP_mappings:4z4i.A,PDB-ENSP_mappings:5js1.A,PDB-ENSP_mappings:5js2.A,PDB-ENSP_mappings:5ki6.A,PDB-ENSP_mappings:5t7b.A,PDB-ENSP_mappings:5wea.A,PDB-ENSP_mappings:6cbd.A,PDB-ENSP_mappings:6mdz.A,PDB-ENSP_mappings:6mdz.B,PDB-ENSP_mappings:6mfn.A,PDB-ENSP_mappings:6mfr.A,PDB-ENSP_mappings:6mfr.B,PDB-ENSP_mappings:6n4o.A,PDB-ENSP_mappings:6nit.A,PDB-ENSP_mappings:6nit.B,PDB-ENSP_mappings:6ra4.A,PDB-ENSP_mappings:6ra4.B,HAMAP:MF_03031,Pfam:PF02170,PROSITE_profiles:PS50821,PANTHER:PTHR22891,PANTHER:PTHR22891:SF59,SMART:SM00949,Superfamily:SSF101690,CDD:cd02846 NA NA NA NA NA NA NA NA 0.0001163 NA NA NA NA LOW 1 SNV 1 NA NA NA . GCG . 5304.6 3.977e-06 NA NA NA NA NA 8.791e-06 NA NA 140558553 DENND3 22898 . GRCh38 chr8 141136706 141136706 + Silent SNP G G A rs756179911 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.300G>A p.Pro100= p.P100= ENST00000519811 2/23 NA NA NA NA NA NA DENND3,synonymous_variant,p.Pro100=,ENST00000519811,NM_001362798.2,NM_001352890.3;DENND3,synonymous_variant,p.Pro20=,ENST00000262585,NM_014957.5;DENND3,synonymous_variant,p.Pro77=,ENST00000518668,;DENND3,synonymous_variant,p.Pro20=,ENST00000424248,;DENND3,synonymous_variant,p.Pro100=,ENST00000523058,;DENND3,synonymous_variant,p.Pro100=,ENST00000520986,;DENND3,synonymous_variant,p.Pro100=,ENST00000518347,NM_001352891.3;DENND3,synonymous_variant,p.Pro33=,ENST00000519291,;DENND3,upstream_gene_variant,,ENST00000518249,;DENND3,3_prime_UTR_variant,,ENST00000518198,; A ENSG00000105339 ENST00000519811 Transcript synonymous_variant 419/5527 300/3837 100/1278 P ccG/ccA rs756179911,COSV99370425 1 NA 1 DENND3 HGNC HGNC:29134 protein_coding YES CCDS87629.1 ENSP00000428714 E9PF32.77 UPI0000160CFA NM_001362798.2,NM_001352890.3 2/23 PROSITE_profiles:PS50211,PANTHER:PTHR12296,PANTHER:PTHR12296:SF21,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA LOW 1 SNV 5 NA 0,1 NA NA . CGG . 5302.6 4.119e-06 NA NA NA NA NA 9.186e-06 NA NA 141136706 GPR20 2843 . GRCh38 chr8 141357759 141357759 + Silent SNP C C T rs750109587 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.165G>A p.Ala55= p.A55= ENST00000377741 2/2 NA NA NA NA NA NA GPR20,synonymous_variant,p.Ala55=,ENST00000377741,NM_005293.3;AC100803.3,upstream_gene_variant,,ENST00000562459,;,regulatory_region_variant,,ENSR00001145172,; T ENSG00000204882 ENST00000377741 Transcript synonymous_variant 275/1564 165/1077 55/358 A gcG/gcA rs750109587,COSV66683895 1 NA -1 GPR20 HGNC HGNC:4475 protein_coding YES CCDS34949.1 ENSP00000366970 Q99678.151 UPI00001404A8 NM_005293.3 2/2 Gene3D:1.20.1070.10,Prints:PR00237,PANTHER:PTHR24232,PANTHER:PTHR24232:SF7,Superfamily:SSF81321,CDD:cd15163 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA LOW 1 SNV 3 NA 0,1 NA NA . GCG . 11618.6 1.602e-05 6.228e-05 NA NA NA NA 2.665e-05 NA NA 141357759 TSNARE1 203062 . GRCh38 chr8 142344143 142344143 + Missense_Mutation SNP C C G novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.568G>C p.Asp190His p.D190H ENST00000662555 3/12 NA NA NA NA NA NA TSNARE1,missense_variant,p.Asp190His,ENST00000662555,;TSNARE1,missense_variant,p.Asp190His,ENST00000307180,NM_001363740.2,NM_001366903.1;TSNARE1,missense_variant,p.Asp190His,ENST00000524325,NM_001366901.1,NM_145003.5,NM_001366904.1,NM_001366902.1;TSNARE1,missense_variant,p.Asp190His,ENST00000520166,;TSNARE1,intron_variant,,ENST00000519651,NM_001291931.2;TSNARE1,downstream_gene_variant,,ENST00000518720,;TSNARE1,downstream_gene_variant,,ENST00000520462,; G ENSG00000171045 ENST00000662555 Transcript missense_variant 568/1914 568/1914 190/638 D/H Gac/Cac 1 NA -1 TSNARE1 HGNC HGNC:26437 protein_coding YES ENSP00000499343 A0A590UJA6.2 UPI0011494D1A deleterious_low_confidence(0.05) possibly_damaging(0.816) 3/12 Pfam:PF13873 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV NA NA NA NA . TCC . 9104.6 NA NA NA NA NA NA NA NA NA 142344143 ZNF696 79943 . GRCh38 chr8 143295772 143295772 + Missense_Mutation SNP A A G novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.97A>G p.Ser33Gly p.S33G ENST00000330143 3/3 NA NA NA NA NA NA ZNF696,missense_variant,p.Ser33Gly,ENST00000330143,NM_030895.3;ZNF696,missense_variant,p.Ser33Gly,ENST00000518575,;ZNF696,missense_variant,p.Ser49Gly,ENST00000523891,;ZNF696,missense_variant,p.Ser33Gly,ENST00000518432,;ZNF696,3_prime_UTR_variant,,ENST00000520333,;ZNF696,downstream_gene_variant,,ENST00000521537,; G ENSG00000185730 ENST00000330143 Transcript missense_variant 478/4658 97/1125 33/374 S/G Agt/Ggt 1 NA 1 ZNF696 HGNC HGNC:25872 protein_coding YES CCDS6399.1 ENSP00000328515 Q9H7X3.149 UPI000013E0BC NM_030895.3 tolerated_low_confidence(0.67) benign(0) 3/3 PANTHER:PTHR24379,PANTHER:PTHR24379:SF77,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . GAG . 1923.6 NA NA NA NA NA NA NA NA NA 143295772 EEF1D 1936 . GRCh38 chr8 143580586 143580586 + Missense_Mutation SNP G G A rs1412151688 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1780C>T p.Arg594Trp p.R594W ENST00000532741 6/8 NA NA NA NA NA NA EEF1D,missense_variant,p.Arg594Trp,ENST00000532741,;EEF1D,missense_variant,p.Arg544Trp,ENST00000423316,NM_001130053.4;EEF1D,missense_variant,p.Arg544Trp,ENST00000618139,;EEF1D,missense_variant,p.Arg544Trp,ENST00000442189,NM_032378.6;EEF1D,missense_variant,p.Arg178Trp,ENST00000317198,NM_001130057.3;EEF1D,missense_variant,p.Arg178Trp,ENST00000419152,NM_001130055.3;EEF1D,missense_variant,p.Arg178Trp,ENST00000529272,;EEF1D,missense_variant,p.Arg178Trp,ENST00000395119,NM_001289950.3,NM_001960.6;EEF1D,missense_variant,p.Arg154Trp,ENST00000524624,;EEF1D,missense_variant,p.Arg178Trp,ENST00000534380,;EEF1D,missense_variant,p.Arg159Trp,ENST00000526838,NM_001195203.3;EEF1D,missense_variant,p.Arg154Trp,ENST00000528610,NM_001317743.3,NM_001130056.4,NM_001330646.2;EEF1D,missense_variant,p.Arg178Trp,ENST00000530191,;EEF1D,missense_variant,p.Arg178Trp,ENST00000533204,;EEF1D,missense_variant,p.Arg135Trp,ENST00000531621,;EEF1D,missense_variant,p.Arg178Trp,ENST00000531218,;EEF1D,missense_variant,p.Arg154Trp,ENST00000534377,;EEF1D,missense_variant,p.Arg53Trp,ENST00000530109,;EEF1D,missense_variant,p.Arg18Trp,ENST00000529576,;EEF1D,3_prime_UTR_variant,,ENST00000530616,;EEF1D,5_prime_UTR_variant,,ENST00000528382,;EEF1D,intron_variant,,ENST00000532400,;NAPRT,upstream_gene_variant,,ENST00000426292,NM_001286829.2;NAPRT,upstream_gene_variant,,ENST00000435154,;NAPRT,upstream_gene_variant,,ENST00000449291,NM_001363146.1,NM_001363145.1,NM_145201.6;EEF1D,downstream_gene_variant,,ENST00000529516,;EEF1D,downstream_gene_variant,,ENST00000530445,;EEF1D,downstream_gene_variant,,ENST00000533494,;EEF1D,downstream_gene_variant,,ENST00000533749,;AC067930.1,non_coding_transcript_exon_variant,,ENST00000529247,;AC067930.4,downstream_gene_variant,,ENST00000531730,;AC067930.5,non_coding_transcript_exon_variant,,ENST00000623257,;EEF1D,3_prime_UTR_variant,,ENST00000524397,;EEF1D,3_prime_UTR_variant,,ENST00000529007,;EEF1D,3_prime_UTR_variant,,ENST00000533833,;EEF1D,non_coding_transcript_exon_variant,,ENST00000527741,;EEF1D,non_coding_transcript_exon_variant,,ENST00000526786,;EEF1D,non_coding_transcript_exon_variant,,ENST00000530848,;NAPRT,upstream_gene_variant,,ENST00000340490,;NAPRT,upstream_gene_variant,,ENST00000460623,;NAPRT,upstream_gene_variant,,ENST00000462059,;NAPRT,upstream_gene_variant,,ENST00000464332,;NAPRT,upstream_gene_variant,,ENST00000480946,;NAPRT,upstream_gene_variant,,ENST00000488096,;NAPRT,upstream_gene_variant,,ENST00000491904,;NAPRT,upstream_gene_variant,,ENST00000525583,;NAPRT,upstream_gene_variant,,ENST00000532645,;EEF1D,downstream_gene_variant,,ENST00000534232,; A ENSG00000104529 ENST00000532741 Transcript missense_variant 2009/2387 1780/2094 594/697 R/W Cgg/Tgg rs1412151688 1 NA -1 EEF1D HGNC HGNC:3211 protein_coding YES ENSP00000434070 E9PRY8.72 UPI0001F78644 deleterious(0) possibly_damaging(0.869) 6/8 Coiled-coils_(Ncoils):Coil,Pfam:PF10587,PANTHER:PTHR11595,PANTHER:PTHR11595:SF26,SMART:SM01182 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CGC . 2101.6 NA NA NA NA NA NA NA NA NA 143580586 EEF1D 1936 . GRCh38 chr8 143586756 143586756 + Silent SNP G G A rs766281435 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1338C>T p.Asn446= p.N446= ENST00000532741 2/8 NA NA NA NA NA NA EEF1D,splice_region_variant,p.Asn30=,ENST00000532400,;EEF1D,synonymous_variant,p.Asn446=,ENST00000532741,;EEF1D,synonymous_variant,p.Asn396=,ENST00000423316,NM_001130053.4;EEF1D,synonymous_variant,p.Asn396=,ENST00000618139,;EEF1D,synonymous_variant,p.Asn396=,ENST00000442189,NM_032378.6;EEF1D,synonymous_variant,p.Asn30=,ENST00000317198,NM_001130057.3;EEF1D,synonymous_variant,p.Asn30=,ENST00000419152,NM_001130055.3;EEF1D,synonymous_variant,p.Asn30=,ENST00000529272,;EEF1D,synonymous_variant,p.Asn30=,ENST00000395119,NM_001289950.3,NM_001960.6;EEF1D,synonymous_variant,p.Asn30=,ENST00000530445,;EEF1D,synonymous_variant,p.Asn30=,ENST00000524624,;EEF1D,synonymous_variant,p.Asn30=,ENST00000534380,;EEF1D,synonymous_variant,p.Asn30=,ENST00000526838,NM_001195203.3;EEF1D,synonymous_variant,p.Asn30=,ENST00000528610,NM_001317743.3,NM_001130056.4,NM_001330646.2;EEF1D,synonymous_variant,p.Asn30=,ENST00000530191,;EEF1D,synonymous_variant,p.Asn30=,ENST00000533204,;EEF1D,synonymous_variant,p.Asn30=,ENST00000531621,;EEF1D,synonymous_variant,p.Asn30=,ENST00000532543,;EEF1D,synonymous_variant,p.Asn30=,ENST00000531218,;EEF1D,synonymous_variant,p.Asn30=,ENST00000526340,;EEF1D,synonymous_variant,p.Asn30=,ENST00000533494,;EEF1D,synonymous_variant,p.Asn110=,ENST00000530616,;EEF1D,synonymous_variant,p.Asn46=,ENST00000533749,;EEF1D,synonymous_variant,p.Asn30=,ENST00000534377,;EEF1D,synonymous_variant,p.Asn30=,ENST00000531931,;EEF1D,synonymous_variant,p.Asn30=,ENST00000525223,;EEF1D,synonymous_variant,p.Asn30=,ENST00000529516,;EEF1D,5_prime_UTR_variant,,ENST00000528382,;EEF1D,downstream_gene_variant,,ENST00000524883,;EEF1D,downstream_gene_variant,,ENST00000524900,;EEF1D,downstream_gene_variant,,ENST00000525261,;EEF1D,downstream_gene_variant,,ENST00000526133,;EEF1D,downstream_gene_variant,,ENST00000526135,;EEF1D,downstream_gene_variant,,ENST00000526710,;EEF1D,downstream_gene_variant,,ENST00000528303,;EEF1D,downstream_gene_variant,,ENST00000528519,;EEF1D,downstream_gene_variant,,ENST00000529832,;EEF1D,downstream_gene_variant,,ENST00000530306,;EEF1D,downstream_gene_variant,,ENST00000530545,;EEF1D,downstream_gene_variant,,ENST00000531281,;EEF1D,downstream_gene_variant,,ENST00000531670,;EEF1D,downstream_gene_variant,,ENST00000531953,;EEF1D,downstream_gene_variant,,ENST00000532596,;EEF1D,downstream_gene_variant,,ENST00000534475,;EEF1D,downstream_gene_variant,,ENST00000534804,;AC067930.5,downstream_gene_variant,,ENST00000623257,;EEF1D,synonymous_variant,p.Asn30=,ENST00000524397,;EEF1D,synonymous_variant,p.Asn30=,ENST00000529007,;EEF1D,synonymous_variant,p.Asn30=,ENST00000533833,;EEF1D,non_coding_transcript_exon_variant,,ENST00000526786,;EEF1D,non_coding_transcript_exon_variant,,ENST00000525695,;EEF1D,non_coding_transcript_exon_variant,,ENST00000534232,;EEF1D,non_coding_transcript_exon_variant,,ENST00000530848,;EEF1D,upstream_gene_variant,,ENST00000527741,; A ENSG00000104529 ENST00000532741 Transcript synonymous_variant 1567/2387 1338/2094 446/697 N aaC/aaT rs766281435 1 NA -1 EEF1D HGNC HGNC:3211 protein_coding YES ENSP00000434070 E9PRY8.72 UPI0001F78644 2/8 PANTHER:PTHR11595,PANTHER:PTHR11595:SF26 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . CGT . 5313.6 1.194e-05 NA NA NA NA NA 2.641e-05 NA NA 143586756 FAM83H 286077 . GRCh38 chr8 143728366 143728367 + Frame_Shift_Ins INS - - C novel NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1697dup p.Ala567ArgfsTer86 p.A567Rfs*86 ENST00000650760 5/5 NA NA NA NA NA NA FAM83H,frameshift_variant,p.Ala567ArgfsTer86,ENST00000650760,;FAM83H,frameshift_variant,p.Ala366ArgfsTer86,ENST00000388913,NM_198488.5;MIR4664,downstream_gene_variant,,ENST00000583819,;FAM83H,frameshift_variant,p.Ala93ArgfsTer86,ENST00000395103,; C ENSG00000180921 ENST00000650760 Transcript frameshift_variant 1697-1698/6131 1697-1698/4143 566/1380 G/GX ggc/ggGc 1 NA -1 FAM83H HGNC HGNC:24797 protein_coding YES ENSP00000499217 A0A494C1T9.8 UPI0007DC5837 5/5 PANTHER:PTHR16181,PANTHER:PTHR16181:SF8 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 insertion NA NA NA 1 . CGC . 1537.64 NA NA NA NA NA NA NA NA NA 143728366 SCRIB 23513 . GRCh38 chr8 143807556 143807558 + In_Frame_Del DEL TCC TCC - novel NA HCI-EC-23 NORMAL TCC TCC NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2172_2174del p.Glu726del p.E726del ENST00000674084 16/37 NA NA NA NA NA NA SCRIB,inframe_deletion,p.Glu726del,ENST00000356994,NM_182706.5;SCRIB,inframe_deletion,p.Glu726del,ENST00000674084,;SCRIB,inframe_deletion,p.Glu726del,ENST00000320476,NM_015356.5;SCRIB,inframe_deletion,p.Glu645del,ENST00000377533,;SCRIB,intron_variant,,ENST00000531942,;SCRIB,upstream_gene_variant,,ENST00000526832,;SCRIB,upstream_gene_variant,,ENST00000674065,;,regulatory_region_variant,,ENSR00000873106,; - ENSG00000180900 ENST00000674084 Transcript inframe_deletion 2179-2181/5227 2172-2174/4977 724-725/1658 EE/E gaGGAa/gaa 1 NA -1 SCRIB HGNC HGNC:30377 protein_coding YES ENSP00000501177 UPI00133AE0B1 16/37 Gene3D:2.30.42.10,PANTHER:PTHR23119,PANTHER:PTHR23119:SF44,Superfamily:SSF50156,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 deletion NA NA NA 1 . CTTCCT . 6003.6 NA NA NA NA NA NA NA NA NA 143807555 SCRIB 23513 . GRCh38 chr8 143810576 143810576 + Missense_Mutation SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1433C>T p.Pro478Leu p.P478L ENST00000674084 13/37 NA NA NA NA NA NA SCRIB,missense_variant,p.Pro478Leu,ENST00000356994,NM_182706.5;SCRIB,missense_variant,p.Pro478Leu,ENST00000674084,;SCRIB,missense_variant,p.Pro478Leu,ENST00000320476,NM_015356.5;SCRIB,missense_variant,p.Pro397Leu,ENST00000377533,;SCRIB,upstream_gene_variant,,ENST00000531942,;MIR937,downstream_gene_variant,,ENST00000401271,; A ENSG00000180900 ENST00000674084 Transcript missense_variant 1440/5227 1433/4977 478/1658 P/L cCc/cTc 1 NA -1 SCRIB HGNC HGNC:30377 protein_coding YES ENSP00000501177 UPI00133AE0B1 deleterious(0.02) probably_damaging(0.97) 13/37 PANTHER:PTHR23119,PANTHER:PTHR23119:SF44,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV NA NA NA 1 . GGG . 3718.6 NA NA NA NA NA NA NA NA NA 143810576 EPPK1 83481 . GRCh38 chr8 143864347 143864347 + Missense_Mutation SNP A A C novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.8907T>G p.Cys2969Trp p.C2969W ENST00000615648 2/2 NA NA NA NA NA NA EPPK1,missense_variant,p.Cys2969Trp,ENST00000615648,NM_031308.4;EPPK1,missense_variant,p.Cys2944Trp,ENST00000568225,; C ENSG00000261150 ENST00000615648 Transcript missense_variant 8982/16005 8907/15267 2969/5088 C/W tgT/tgG 1 NA -1 EPPK1 HGNC HGNC:15577 protein_coding YES CCDS75800.1 ENSP00000484472 P58107.161 UPI0002065B93 NM_031308.4 deleterious(0.01) possibly_damaging(0.833) 2/2 PANTHER:PTHR23169,PANTHER:PTHR23169:SF21 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . CAC . 255.93 NA NA NA NA NA NA NA NA NA 143864347 EPPK1 83481 . GRCh38 chr8 143864349 143864349 + Missense_Mutation SNP A A G novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.8905T>C p.Cys2969Arg p.C2969R ENST00000615648 2/2 NA NA NA NA NA NA EPPK1,missense_variant,p.Cys2969Arg,ENST00000615648,NM_031308.4;EPPK1,missense_variant,p.Cys2944Arg,ENST00000568225,; G ENSG00000261150 ENST00000615648 Transcript missense_variant 8980/16005 8905/15267 2969/5088 C/R Tgt/Cgt 1 NA -1 EPPK1 HGNC HGNC:15577 protein_coding YES CCDS75800.1 ENSP00000484472 P58107.161 UPI0002065B93 NM_031308.4 tolerated(0.59) possibly_damaging(0.598) 2/2 PANTHER:PTHR23169,PANTHER:PTHR23169:SF21 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . CAG . 255.93 NA NA NA NA NA NA NA NA NA 143864349 EPPK1 83481 . GRCh38 chr8 143864350 143864350 + Silent SNP G G T novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.8904C>A p.Arg2968= p.R2968= ENST00000615648 2/2 NA NA NA NA NA NA EPPK1,synonymous_variant,p.Arg2968=,ENST00000615648,NM_031308.4;EPPK1,synonymous_variant,p.Arg2943=,ENST00000568225,; T ENSG00000261150 ENST00000615648 Transcript synonymous_variant 8979/16005 8904/15267 2968/5088 R cgC/cgA 1 NA -1 EPPK1 HGNC HGNC:15577 protein_coding YES CCDS75800.1 ENSP00000484472 P58107.161 UPI0002065B93 NM_031308.4 2/2 PANTHER:PTHR23169,PANTHER:PTHR23169:SF21 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . AGC . 255.93 NA NA NA NA NA NA NA NA NA 143864350 EPPK1 83481 . GRCh38 chr8 143864352 143864352 + Missense_Mutation SNP G G T novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.8902C>A p.Arg2968Ser p.R2968S ENST00000615648 2/2 NA NA NA NA NA NA EPPK1,missense_variant,p.Arg2968Ser,ENST00000615648,NM_031308.4;EPPK1,missense_variant,p.Arg2943Ser,ENST00000568225,; T ENSG00000261150 ENST00000615648 Transcript missense_variant 8977/16005 8902/15267 2968/5088 R/S Cgc/Agc 1 NA -1 EPPK1 HGNC HGNC:15577 protein_coding YES CCDS75800.1 ENSP00000484472 P58107.161 UPI0002065B93 NM_031308.4 deleterious(0.01) benign(0.412) 2/2 PANTHER:PTHR23169,PANTHER:PTHR23169:SF21 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . CGC . 255.93 NA NA NA NA NA NA NA NA NA 143864352 EPPK1 83481 . GRCh38 chr8 143864368 143864368 + Missense_Mutation SNP C C G novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.8886G>C p.Gln2962His p.Q2962H ENST00000615648 2/2 NA NA NA NA NA NA EPPK1,missense_variant,p.Gln2962His,ENST00000615648,NM_031308.4;EPPK1,missense_variant,p.Gln2937His,ENST00000568225,; G ENSG00000261150 ENST00000615648 Transcript missense_variant 8961/16005 8886/15267 2962/5088 Q/H caG/caC 1 NA -1 EPPK1 HGNC HGNC:15577 protein_coding YES CCDS75800.1 ENSP00000484472 P58107.161 UPI0002065B93 NM_031308.4 tolerated(0.37) benign(0.398) 2/2 PANTHER:PTHR23169,PANTHER:PTHR23169:SF21 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . GCT . 300.98 NA NA NA NA NA NA NA NA NA 143864368 EPPK1 83481 . GRCh38 chr8 143864377 143864377 + Silent SNP G G A rs1173348312 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.8877C>T p.Ala2959= p.A2959= ENST00000615648 2/2 NA NA NA NA NA NA EPPK1,synonymous_variant,p.Ala2959=,ENST00000615648,NM_031308.4;EPPK1,synonymous_variant,p.Ala2934=,ENST00000568225,; A ENSG00000261150 ENST00000615648 Transcript synonymous_variant 8952/16005 8877/15267 2959/5088 A gcC/gcT rs1173348312 1 NA -1 EPPK1 HGNC HGNC:15577 protein_coding YES CCDS75800.1 ENSP00000484472 P58107.161 UPI0002065B93 NM_031308.4 2/2 PANTHER:PTHR23169,PANTHER:PTHR23169:SF21 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . CGG . 300.98 NA NA NA NA NA NA NA NA NA 143864377 EPPK1 83481 . GRCh38 chr8 143864378 143864378 + Missense_Mutation SNP G G C novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.8876C>G p.Ala2959Gly p.A2959G ENST00000615648 2/2 NA NA NA NA NA NA EPPK1,missense_variant,p.Ala2959Gly,ENST00000615648,NM_031308.4;EPPK1,missense_variant,p.Ala2934Gly,ENST00000568225,; C ENSG00000261150 ENST00000615648 Transcript missense_variant 8951/16005 8876/15267 2959/5088 A/G gCc/gGc 1 NA -1 EPPK1 HGNC HGNC:15577 protein_coding YES CCDS75800.1 ENSP00000484472 P58107.161 UPI0002065B93 NM_031308.4 tolerated(0.38) possibly_damaging(0.578) 2/2 PANTHER:PTHR23169,PANTHER:PTHR23169:SF21 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . GGC . 300.98 NA NA NA NA NA NA NA NA NA 143864378 EPPK1 83481 . GRCh38 chr8 143864379 143864379 + Missense_Mutation SNP C C T rs1397354574 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.8875G>A p.Ala2959Thr p.A2959T ENST00000615648 2/2 NA NA NA NA NA NA EPPK1,missense_variant,p.Ala2959Thr,ENST00000615648,NM_031308.4;EPPK1,missense_variant,p.Ala2934Thr,ENST00000568225,; T ENSG00000261150 ENST00000615648 Transcript missense_variant 8950/16005 8875/15267 2959/5088 A/T Gcc/Acc rs1397354574 1 NA -1 EPPK1 HGNC HGNC:15577 protein_coding YES CCDS75800.1 ENSP00000484472 P58107.161 UPI0002065B93 NM_031308.4 tolerated(0.58) possibly_damaging(0.691) 2/2 PANTHER:PTHR23169,PANTHER:PTHR23169:SF21 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . GCG . 300.98 NA NA NA NA NA NA NA NA NA 143864379 EPPK1 83481 . GRCh38 chr8 143864387 143864387 + Missense_Mutation SNP C C T rs1405123905 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.8867G>A p.Arg2956Gln p.R2956Q ENST00000615648 2/2 NA NA NA NA NA NA EPPK1,missense_variant,p.Arg2956Gln,ENST00000615648,NM_031308.4;EPPK1,missense_variant,p.Arg2931Gln,ENST00000568225,; T ENSG00000261150 ENST00000615648 Transcript missense_variant 8942/16005 8867/15267 2956/5088 R/Q cGg/cAg rs1405123905 1 NA -1 EPPK1 HGNC HGNC:15577 protein_coding YES CCDS75800.1 ENSP00000484472 P58107.161 UPI0002065B93 NM_031308.4 tolerated(0.15) benign(0.412) 2/2 Gene3D:3.90.1290.10,PANTHER:PTHR23169,PANTHER:PTHR23169:SF21 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . CCG . 346 NA NA NA NA NA NA NA NA NA 143864387 EPPK1 83481 . GRCh38 chr8 143864388 143864388 + Silent SNP G G T novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.8866C>A p.Arg2956= p.R2956= ENST00000615648 2/2 NA NA NA NA NA NA EPPK1,synonymous_variant,p.Arg2956=,ENST00000615648,NM_031308.4;EPPK1,synonymous_variant,p.Arg2931=,ENST00000568225,; T ENSG00000261150 ENST00000615648 Transcript synonymous_variant 8941/16005 8866/15267 2956/5088 R Cgg/Agg 1 NA -1 EPPK1 HGNC HGNC:15577 protein_coding YES CCDS75800.1 ENSP00000484472 P58107.161 UPI0002065B93 NM_031308.4 2/2 Gene3D:3.90.1290.10,PANTHER:PTHR23169,PANTHER:PTHR23169:SF21 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . CGG . 346 NA NA NA NA NA NA NA NA NA 143864388 EPPK1 83481 . GRCh38 chr8 143864389 143864389 + Silent SNP G G T novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.8865C>A p.Gly2955= p.G2955= ENST00000615648 2/2 NA NA NA NA NA NA EPPK1,synonymous_variant,p.Gly2955=,ENST00000615648,NM_031308.4;EPPK1,synonymous_variant,p.Gly2930=,ENST00000568225,; T ENSG00000261150 ENST00000615648 Transcript synonymous_variant 8940/16005 8865/15267 2955/5088 G ggC/ggA 1 NA -1 EPPK1 HGNC HGNC:15577 protein_coding YES CCDS75800.1 ENSP00000484472 P58107.161 UPI0002065B93 NM_031308.4 2/2 Gene3D:3.90.1290.10,PANTHER:PTHR23169,PANTHER:PTHR23169:SF21 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . GGC . 346 NA NA NA NA NA NA NA NA NA 143864389 EPPK1 83481 . GRCh38 chr8 143864392 143864392 + Silent SNP T T A novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.8862A>T p.Ala2954= p.A2954= ENST00000615648 2/2 NA NA NA NA NA NA EPPK1,synonymous_variant,p.Ala2954=,ENST00000615648,NM_031308.4;EPPK1,synonymous_variant,p.Ala2929=,ENST00000568225,; A ENSG00000261150 ENST00000615648 Transcript synonymous_variant 8937/16005 8862/15267 2954/5088 A gcA/gcT 1 NA -1 EPPK1 HGNC HGNC:15577 protein_coding YES CCDS75800.1 ENSP00000484472 P58107.161 UPI0002065B93 NM_031308.4 2/2 Gene3D:3.90.1290.10,PANTHER:PTHR23169,PANTHER:PTHR23169:SF21 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . CTG . 346 NA NA NA NA NA NA NA NA NA 143864392 EPPK1 83481 . GRCh38 chr8 143864412 143864412 + Missense_Mutation SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.8842C>T p.Leu2948Phe p.L2948F ENST00000615648 2/2 NA NA NA NA NA NA EPPK1,missense_variant,p.Leu2948Phe,ENST00000615648,NM_031308.4;EPPK1,missense_variant,p.Leu2923Phe,ENST00000568225,; A ENSG00000261150 ENST00000615648 Transcript missense_variant 8917/16005 8842/15267 2948/5088 L/F Ctc/Ttc 1 NA -1 EPPK1 HGNC HGNC:15577 protein_coding YES CCDS75800.1 ENSP00000484472 P58107.161 UPI0002065B93 NM_031308.4 tolerated(0.05) possibly_damaging(0.751) 2/2 Gene3D:3.90.1290.10,PANTHER:PTHR23169,PANTHER:PTHR23169:SF21,Superfamily:SSF75399 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . AGC . 346 NA NA NA NA NA NA NA NA NA 143864412 EPPK1 83481 . GRCh38 chr8 143864413 143864413 + Silent SNP C C G novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.8841G>C p.Gly2947= p.G2947= ENST00000615648 2/2 NA NA NA NA NA NA EPPK1,synonymous_variant,p.Gly2947=,ENST00000615648,NM_031308.4;EPPK1,synonymous_variant,p.Gly2922=,ENST00000568225,; G ENSG00000261150 ENST00000615648 Transcript synonymous_variant 8916/16005 8841/15267 2947/5088 G ggG/ggC 1 NA -1 EPPK1 HGNC HGNC:15577 protein_coding YES CCDS75800.1 ENSP00000484472 P58107.161 UPI0002065B93 NM_031308.4 2/2 Gene3D:3.90.1290.10,PANTHER:PTHR23169,PANTHER:PTHR23169:SF21,SMART:SM00250,Superfamily:SSF75399 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . GCC . 346 NA NA NA NA NA NA NA NA NA 143864413 EPPK1 83481 . GRCh38 chr8 143864416 143864416 + Silent SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.8838C>T p.Thr2946= p.T2946= ENST00000615648 2/2 NA NA NA NA NA NA EPPK1,synonymous_variant,p.Thr2946=,ENST00000615648,NM_031308.4;EPPK1,synonymous_variant,p.Thr2921=,ENST00000568225,; A ENSG00000261150 ENST00000615648 Transcript synonymous_variant 8913/16005 8838/15267 2946/5088 T acC/acT 1 NA -1 EPPK1 HGNC HGNC:15577 protein_coding YES CCDS75800.1 ENSP00000484472 P58107.161 UPI0002065B93 NM_031308.4 2/2 Gene3D:3.90.1290.10,PANTHER:PTHR23169,PANTHER:PTHR23169:SF21,SMART:SM00250,Superfamily:SSF75399 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . CGG . 346 NA NA NA NA NA NA NA NA NA 143864416 EPPK1 83481 . GRCh38 chr8 143864419 143864419 + Missense_Mutation SNP G G C novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.8835C>G p.Asp2945Glu p.D2945E ENST00000615648 2/2 NA NA NA NA NA NA EPPK1,missense_variant,p.Asp2945Glu,ENST00000615648,NM_031308.4;EPPK1,missense_variant,p.Asp2920Glu,ENST00000568225,; C ENSG00000261150 ENST00000615648 Transcript missense_variant 8910/16005 8835/15267 2945/5088 D/E gaC/gaG 1 NA -1 EPPK1 HGNC HGNC:15577 protein_coding YES CCDS75800.1 ENSP00000484472 P58107.161 UPI0002065B93 NM_031308.4 tolerated(0.99) possibly_damaging(0.631) 2/2 Gene3D:3.90.1290.10,PANTHER:PTHR23169,PANTHER:PTHR23169:SF21,SMART:SM00250,Superfamily:SSF75399 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . TGT . 346 NA NA NA NA NA NA NA NA NA 143864419 EPPK1 83481 . GRCh38 chr8 143864422 143864422 + Silent SNP C C T rs1238231925 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.8832G>A p.Pro2944= p.P2944= ENST00000615648 2/2 NA NA NA NA NA NA EPPK1,synonymous_variant,p.Pro2944=,ENST00000615648,NM_031308.4;EPPK1,synonymous_variant,p.Pro2919=,ENST00000568225,; T ENSG00000261150 ENST00000615648 Transcript synonymous_variant 8907/16005 8832/15267 2944/5088 P ccG/ccA rs1238231925 1 NA -1 EPPK1 HGNC HGNC:15577 protein_coding YES CCDS75800.1 ENSP00000484472 P58107.161 UPI0002065B93 NM_031308.4 2/2 Gene3D:3.90.1290.10,PANTHER:PTHR23169,PANTHER:PTHR23169:SF21,SMART:SM00250,Superfamily:SSF75399 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . CCG . 346 NA NA NA NA NA NA NA NA NA 143864422 EPPK1 83481 . GRCh38 chr8 143864429 143864429 + Missense_Mutation SNP G G C novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.8825C>G p.Pro2942Arg p.P2942R ENST00000615648 2/2 NA NA NA NA NA NA EPPK1,missense_variant,p.Pro2942Arg,ENST00000615648,NM_031308.4;EPPK1,missense_variant,p.Pro2917Arg,ENST00000568225,; C ENSG00000261150 ENST00000615648 Transcript missense_variant 8900/16005 8825/15267 2942/5088 P/R cCc/cGc 1 NA -1 EPPK1 HGNC HGNC:15577 protein_coding YES CCDS75800.1 ENSP00000484472 P58107.161 UPI0002065B93 NM_031308.4 tolerated(0.7) possibly_damaging(0.908) 2/2 Gene3D:3.90.1290.10,PANTHER:PTHR23169,PANTHER:PTHR23169:SF21,SMART:SM00250,Superfamily:SSF75399 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . GGG . 346 NA NA NA NA NA NA NA NA NA 143864429 EPPK1 83481 . GRCh38 chr8 143864434 143864434 + Silent SNP G G A rs1351295902 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.8820C>T p.Cys2940= p.C2940= ENST00000615648 2/2 NA NA NA NA NA NA EPPK1,synonymous_variant,p.Cys2940=,ENST00000615648,NM_031308.4;EPPK1,synonymous_variant,p.Cys2915=,ENST00000568225,; A ENSG00000261150 ENST00000615648 Transcript synonymous_variant 8895/16005 8820/15267 2940/5088 C tgC/tgT rs1351295902 1 NA -1 EPPK1 HGNC HGNC:15577 protein_coding YES CCDS75800.1 ENSP00000484472 P58107.161 UPI0002065B93 NM_031308.4 2/2 Gene3D:3.90.1290.10,PANTHER:PTHR23169,PANTHER:PTHR23169:SF21,SMART:SM00250,Superfamily:SSF75399 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . CGC . 346 NA NA NA NA NA NA NA NA NA 143864434 EPPK1 83481 . GRCh38 chr8 143864452 143864452 + Silent SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.8802G>A p.Val2934= p.V2934= ENST00000615648 2/2 NA NA NA NA NA NA EPPK1,synonymous_variant,p.Val2934=,ENST00000615648,NM_031308.4;EPPK1,synonymous_variant,p.Val2909=,ENST00000568225,; T ENSG00000261150 ENST00000615648 Transcript synonymous_variant 8877/16005 8802/15267 2934/5088 V gtG/gtA 1 NA -1 EPPK1 HGNC HGNC:15577 protein_coding YES CCDS75800.1 ENSP00000484472 P58107.161 UPI0002065B93 NM_031308.4 2/2 Gene3D:3.90.1290.10,PANTHER:PTHR23169,PANTHER:PTHR23169:SF21,SMART:SM00250,Superfamily:SSF75399 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . GCA . 436.02 NA NA NA NA NA NA NA NA NA 143864452 EPPK1 83481 . GRCh38 chr8 143864454 143864454 + Missense_Mutation SNP C C G novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.8800G>C p.Val2934Leu p.V2934L ENST00000615648 2/2 NA NA NA NA NA NA EPPK1,missense_variant,p.Val2934Leu,ENST00000615648,NM_031308.4;EPPK1,missense_variant,p.Val2909Leu,ENST00000568225,; G ENSG00000261150 ENST00000615648 Transcript missense_variant 8875/16005 8800/15267 2934/5088 V/L Gtg/Ctg 1 NA -1 EPPK1 HGNC HGNC:15577 protein_coding YES CCDS75800.1 ENSP00000484472 P58107.161 UPI0002065B93 NM_031308.4 tolerated(1) benign(0.205) 2/2 Gene3D:3.90.1290.10,PANTHER:PTHR23169,PANTHER:PTHR23169:SF21,SMART:SM00250,Superfamily:SSF75399 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . ACG . 436.02 NA NA NA NA NA NA NA NA NA 143864454 EPPK1 83481 . GRCh38 chr8 143864458 143864458 + Silent SNP C C A novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.8796G>T p.Thr2932= p.T2932= ENST00000615648 2/2 NA NA NA NA NA NA EPPK1,synonymous_variant,p.Thr2932=,ENST00000615648,NM_031308.4;EPPK1,synonymous_variant,p.Thr2907=,ENST00000568225,; A ENSG00000261150 ENST00000615648 Transcript synonymous_variant 8871/16005 8796/15267 2932/5088 T acG/acT 1 NA -1 EPPK1 HGNC HGNC:15577 protein_coding YES CCDS75800.1 ENSP00000484472 P58107.161 UPI0002065B93 NM_031308.4 2/2 Gene3D:3.90.1290.10,PANTHER:PTHR23169,PANTHER:PTHR23169:SF21,SMART:SM00250,Superfamily:SSF75399 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . ACG . 391.01 NA NA NA NA NA NA NA NA NA 143864458 EPPK1 83481 . GRCh38 chr8 143864473 143864473 + Silent SNP C C A novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.8781G>T p.Thr2927= p.T2927= ENST00000615648 2/2 NA NA NA NA NA NA EPPK1,synonymous_variant,p.Thr2927=,ENST00000615648,NM_031308.4;EPPK1,synonymous_variant,p.Thr2902=,ENST00000568225,; A ENSG00000261150 ENST00000615648 Transcript synonymous_variant 8856/16005 8781/15267 2927/5088 T acG/acT 1 NA -1 EPPK1 HGNC HGNC:15577 protein_coding YES CCDS75800.1 ENSP00000484472 P58107.161 UPI0002065B93 NM_031308.4 2/2 Gene3D:3.90.1290.10,PANTHER:PTHR23169,PANTHER:PTHR23169:SF21,SMART:SM00250,Superfamily:SSF75399 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . GCG . 278.02 NA NA NA NA NA NA NA NA NA 143864473 EPPK1 83481 . GRCh38 chr8 143864485 143864485 + Silent SNP G G A rs1357656776 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.8769C>T p.Phe2923= p.F2923= ENST00000615648 2/2 NA NA NA NA NA NA EPPK1,synonymous_variant,p.Phe2923=,ENST00000615648,NM_031308.4;EPPK1,synonymous_variant,p.Phe2898=,ENST00000568225,; A ENSG00000261150 ENST00000615648 Transcript synonymous_variant 8844/16005 8769/15267 2923/5088 F ttC/ttT rs1357656776 1 NA -1 EPPK1 HGNC HGNC:15577 protein_coding YES CCDS75800.1 ENSP00000484472 P58107.161 UPI0002065B93 NM_031308.4 2/2 Gene3D:3.90.1290.10,PANTHER:PTHR23169,PANTHER:PTHR23169:SF21,SMART:SM00250,Superfamily:SSF75399 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . CGA . 366.02 NA NA NA NA NA NA NA NA NA 143864485 EPPK1 83481 . GRCh38 chr8 143864506 143864506 + Silent SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.8748C>T p.Ser2916= p.S2916= ENST00000615648 2/2 NA NA NA NA NA NA EPPK1,synonymous_variant,p.Ser2916=,ENST00000615648,NM_031308.4;EPPK1,synonymous_variant,p.Ser2891=,ENST00000568225,; A ENSG00000261150 ENST00000615648 Transcript synonymous_variant 8823/16005 8748/15267 2916/5088 S agC/agT 1 NA -1 EPPK1 HGNC HGNC:15577 protein_coding YES CCDS75800.1 ENSP00000484472 P58107.161 UPI0002065B93 NM_031308.4 2/2 Gene3D:3.90.1290.10,PANTHER:PTHR23169,PANTHER:PTHR23169:SF21,SMART:SM00250,Superfamily:SSF75399 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . CGC . 751.03 NA NA NA NA NA NA NA NA NA 143864506 EPPK1 83481 . GRCh38 chr8 143864508 143864508 + Missense_Mutation SNP T T C novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.8746A>G p.Ser2916Gly p.S2916G ENST00000615648 2/2 NA NA NA NA NA NA EPPK1,missense_variant,p.Ser2916Gly,ENST00000615648,NM_031308.4;EPPK1,missense_variant,p.Ser2891Gly,ENST00000568225,; C ENSG00000261150 ENST00000615648 Transcript missense_variant 8821/16005 8746/15267 2916/5088 S/G Agc/Ggc 1 NA -1 EPPK1 HGNC HGNC:15577 protein_coding YES CCDS75800.1 ENSP00000484472 P58107.161 UPI0002065B93 NM_031308.4 tolerated(0.24) benign(0.291) 2/2 Gene3D:3.90.1290.10,PANTHER:PTHR23169,PANTHER:PTHR23169:SF21,SMART:SM00250,Superfamily:SSF75399 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . CTG . 751.03 NA NA NA NA NA NA NA NA NA 143864508 EPPK1 83481 . GRCh38 chr8 143864509 143864509 + Silent SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.8745C>T p.Pro2915= p.P2915= ENST00000615648 2/2 NA NA NA NA NA NA EPPK1,synonymous_variant,p.Pro2915=,ENST00000615648,NM_031308.4;EPPK1,synonymous_variant,p.Pro2890=,ENST00000568225,; A ENSG00000261150 ENST00000615648 Transcript synonymous_variant 8820/16005 8745/15267 2915/5088 P ccC/ccT 1 NA -1 EPPK1 HGNC HGNC:15577 protein_coding YES CCDS75800.1 ENSP00000484472 P58107.161 UPI0002065B93 NM_031308.4 2/2 Gene3D:3.90.1290.10,PANTHER:PTHR23169,PANTHER:PTHR23169:SF21,SMART:SM00250,Superfamily:SSF75399 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . TGG . 796.03 NA NA NA NA NA NA NA NA NA 143864509 EPPK1 83481 . GRCh38 chr8 143864515 143864515 + Silent SNP G G C rs1368705246 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.8739C>G p.Ala2913= p.A2913= ENST00000615648 2/2 NA NA NA NA NA NA EPPK1,synonymous_variant,p.Ala2913=,ENST00000615648,NM_031308.4;EPPK1,synonymous_variant,p.Ala2888=,ENST00000568225,; C ENSG00000261150 ENST00000615648 Transcript synonymous_variant 8814/16005 8739/15267 2913/5088 A gcC/gcG rs1368705246 1 NA -1 EPPK1 HGNC HGNC:15577 protein_coding YES CCDS75800.1 ENSP00000484472 P58107.161 UPI0002065B93 NM_031308.4 2/2 Gene3D:3.90.1290.10,PANTHER:PTHR23169,PANTHER:PTHR23169:SF21,SMART:SM00250,Superfamily:SSF75399 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . CGG . 841.03 NA NA NA NA NA NA NA NA NA 143864515 EPPK1 83481 . GRCh38 chr8 143864520 143864521 + Frame_Shift_Del DEL GG GG - novel NA HCI-EC-23 NORMAL GG GG NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.8733_8734del p.Leu2912GlyfsTer261 p.L2912Gfs*261 ENST00000615648 2/2 NA NA NA NA NA NA EPPK1,frameshift_variant,p.Leu2912GlyfsTer261,ENST00000615648,NM_031308.4;EPPK1,frameshift_variant,p.Leu2887GlyfsTer261,ENST00000568225,; - ENSG00000261150 ENST00000615648 Transcript frameshift_variant 8808-8809/16005 8733-8734/15267 2911-2912/5088 VL/VX gtCCtg/gttg 1 NA -1 EPPK1 HGNC HGNC:15577 protein_coding YES CCDS75800.1 ENSP00000484472 P58107.161 UPI0002065B93 NM_031308.4 2/2 Gene3D:3.90.1290.10,Pfam:PF00681,PANTHER:PTHR23169,PANTHER:PTHR23169:SF21,Superfamily:SSF75399 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 5 NA NA NA . CAGGA . 886.03 NA NA NA NA NA NA NA NA NA 143864519 EPPK1 83481 . GRCh38 chr8 143864523 143864523 + Missense_Mutation SNP C C A novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.8731G>T p.Val2911Phe p.V2911F ENST00000615648 2/2 NA NA NA NA NA NA EPPK1,missense_variant,p.Val2911Phe,ENST00000615648,NM_031308.4;EPPK1,missense_variant,p.Val2886Phe,ENST00000568225,; A ENSG00000261150 ENST00000615648 Transcript missense_variant 8806/16005 8731/15267 2911/5088 V/F Gtc/Ttc 1 NA -1 EPPK1 HGNC HGNC:15577 protein_coding YES CCDS75800.1 ENSP00000484472 P58107.161 UPI0002065B93 NM_031308.4 tolerated(0.21) possibly_damaging(0.617) 2/2 Gene3D:3.90.1290.10,Pfam:PF00681,PANTHER:PTHR23169,PANTHER:PTHR23169:SF21,Superfamily:SSF75399 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . ACA . 931.03 NA NA NA NA NA NA NA NA NA 143864523 EPPK1 83481 . GRCh38 chr8 143864524 143864525 + Frame_Shift_Ins INS - - TG novel NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.8729_8730insCA p.Val2911MetfsTer54 p.V2911Mfs*54 ENST00000615648 2/2 NA NA NA NA NA NA EPPK1,frameshift_variant,p.Val2911MetfsTer54,ENST00000615648,NM_031308.4;EPPK1,frameshift_variant,p.Val2886MetfsTer54,ENST00000568225,; TG ENSG00000261150 ENST00000615648 Transcript frameshift_variant 8804-8805/16005 8729-8730/15267 2910/5088 R/RX cgt/cgCAt 1 NA -1 EPPK1 HGNC HGNC:15577 protein_coding YES CCDS75800.1 ENSP00000484472 P58107.161 UPI0002065B93 NM_031308.4 2/2 Gene3D:3.90.1290.10,Pfam:PF00681,PANTHER:PTHR23169,PANTHER:PTHR23169:SF21,Superfamily:SSF75399 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 insertion 5 NA NA NA . CAC . 931.06 NA NA NA NA NA NA NA NA NA 143864524 EPPK1 83481 . GRCh38 chr8 143864526 143864526 + Missense_Mutation SNP G G T novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.8728C>A p.Arg2910Ser p.R2910S ENST00000615648 2/2 NA NA NA NA NA NA EPPK1,missense_variant,p.Arg2910Ser,ENST00000615648,NM_031308.4;EPPK1,missense_variant,p.Arg2885Ser,ENST00000568225,; T ENSG00000261150 ENST00000615648 Transcript missense_variant 8803/16005 8728/15267 2910/5088 R/S Cgt/Agt 1 NA -1 EPPK1 HGNC HGNC:15577 protein_coding YES CCDS75800.1 ENSP00000484472 P58107.161 UPI0002065B93 NM_031308.4 tolerated(0.09) benign(0.412) 2/2 Gene3D:3.90.1290.10,Pfam:PF00681,PANTHER:PTHR23169,PANTHER:PTHR23169:SF21,Superfamily:SSF75399 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . CGG . 931.03 NA NA NA NA NA NA NA NA NA 143864526 EPPK1 83481 . GRCh38 chr8 143864533 143864533 + Missense_Mutation SNP C C G novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.8721G>C p.Glu2907Asp p.E2907D ENST00000615648 2/2 NA NA NA NA NA NA EPPK1,missense_variant,p.Glu2907Asp,ENST00000615648,NM_031308.4;EPPK1,missense_variant,p.Glu2882Asp,ENST00000568225,; G ENSG00000261150 ENST00000615648 Transcript missense_variant 8796/16005 8721/15267 2907/5088 E/D gaG/gaC 1 NA -1 EPPK1 HGNC HGNC:15577 protein_coding YES CCDS75800.1 ENSP00000484472 P58107.161 UPI0002065B93 NM_031308.4 tolerated(0.18) benign(0.089) 2/2 Gene3D:3.90.1290.10,Pfam:PF00681,PANTHER:PTHR23169,PANTHER:PTHR23169:SF21,SMART:SM00250,Superfamily:SSF75399 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . TCT . 976.03 NA NA NA NA NA NA NA NA NA 143864533 EPPK1 83481 . GRCh38 chr8 143864536 143864536 + Silent SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.8718G>A p.Glu2906= p.E2906= ENST00000615648 2/2 NA NA NA NA NA NA EPPK1,synonymous_variant,p.Glu2906=,ENST00000615648,NM_031308.4;EPPK1,synonymous_variant,p.Glu2881=,ENST00000568225,; T ENSG00000261150 ENST00000615648 Transcript synonymous_variant 8793/16005 8718/15267 2906/5088 E gaG/gaA 1 NA -1 EPPK1 HGNC HGNC:15577 protein_coding YES CCDS75800.1 ENSP00000484472 P58107.161 UPI0002065B93 NM_031308.4 2/2 Gene3D:3.90.1290.10,Pfam:PF00681,PANTHER:PTHR23169,PANTHER:PTHR23169:SF21,SMART:SM00250,Superfamily:SSF75399 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . CCT . 976.03 NA NA NA NA NA NA NA NA NA 143864536 EPPK1 83481 . GRCh38 chr8 143864539 143864539 + Silent SNP G G A rs1227080000 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.8715C>T p.Asp2905= p.D2905= ENST00000615648 2/2 NA NA NA NA NA NA EPPK1,synonymous_variant,p.Asp2905=,ENST00000615648,NM_031308.4;EPPK1,synonymous_variant,p.Asp2880=,ENST00000568225,; A ENSG00000261150 ENST00000615648 Transcript synonymous_variant 8790/16005 8715/15267 2905/5088 D gaC/gaT rs1227080000 1 NA -1 EPPK1 HGNC HGNC:15577 protein_coding YES CCDS75800.1 ENSP00000484472 P58107.161 UPI0002065B93 NM_031308.4 2/2 Gene3D:3.90.1290.10,Pfam:PF00681,PANTHER:PTHR23169,PANTHER:PTHR23169:SF21,SMART:SM00250,Superfamily:SSF75399 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . CGT . 976.03 NA NA NA NA NA NA NA NA NA 143864539 EPPK1 83481 . GRCh38 chr8 143864542 143864542 + Silent SNP G G A rs1436426798 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.8712C>T p.Phe2904= p.F2904= ENST00000615648 2/2 NA NA NA NA NA NA EPPK1,synonymous_variant,p.Phe2904=,ENST00000615648,NM_031308.4;EPPK1,synonymous_variant,p.Phe2879=,ENST00000568225,; A ENSG00000261150 ENST00000615648 Transcript synonymous_variant 8787/16005 8712/15267 2904/5088 F ttC/ttT rs1436426798 1 NA -1 EPPK1 HGNC HGNC:15577 protein_coding YES CCDS75800.1 ENSP00000484472 P58107.161 UPI0002065B93 NM_031308.4 2/2 Gene3D:3.90.1290.10,Pfam:PF00681,PANTHER:PTHR23169,PANTHER:PTHR23169:SF21,SMART:SM00250,Superfamily:SSF75399 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . CGA . 1001.03 NA NA NA NA NA NA NA NA NA 143864542 EPPK1 83481 . GRCh38 chr8 143864551 143864551 + Silent SNP G G A rs1462587063 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.8703C>T p.Arg2901= p.R2901= ENST00000615648 2/2 NA NA NA NA NA NA EPPK1,synonymous_variant,p.Arg2901=,ENST00000615648,NM_031308.4;EPPK1,synonymous_variant,p.Arg2876=,ENST00000568225,; A ENSG00000261150 ENST00000615648 Transcript synonymous_variant 8778/16005 8703/15267 2901/5088 R cgC/cgT rs1462587063 1 NA -1 EPPK1 HGNC HGNC:15577 protein_coding YES CCDS75800.1 ENSP00000484472 P58107.161 UPI0002065B93 NM_031308.4 2/2 Gene3D:3.90.1290.10,Pfam:PF00681,PANTHER:PTHR23169,PANTHER:PTHR23169:SF21,SMART:SM00250,Superfamily:SSF75399 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . CGC . 1025.03 NA NA NA NA NA NA NA NA NA 143864551 EPPK1 83481 . GRCh38 chr8 143864578 143864578 + Silent SNP G G A rs1268218534 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.8676C>T p.Arg2892= p.R2892= ENST00000615648 2/2 NA NA NA NA NA NA EPPK1,synonymous_variant,p.Arg2892=,ENST00000615648,NM_031308.4;EPPK1,synonymous_variant,p.Arg2867=,ENST00000568225,; A ENSG00000261150 ENST00000615648 Transcript synonymous_variant 8751/16005 8676/15267 2892/5088 R cgC/cgT rs1268218534 1 NA -1 EPPK1 HGNC HGNC:15577 protein_coding YES CCDS75800.1 ENSP00000484472 P58107.161 UPI0002065B93 NM_031308.4 2/2 Gene3D:3.90.1290.10,Pfam:PF00681,PANTHER:PTHR23169,PANTHER:PTHR23169:SF21,SMART:SM00250,Superfamily:SSF75399 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . CGC . 612.03 NA NA NA NA NA NA NA NA NA 143864578 EPPK1 83481 . GRCh38 chr8 143864593 143864593 + Silent SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.8661C>T p.Pro2887= p.P2887= ENST00000615648 2/2 NA NA NA NA NA NA EPPK1,synonymous_variant,p.Pro2887=,ENST00000615648,NM_031308.4;EPPK1,synonymous_variant,p.Pro2862=,ENST00000568225,; A ENSG00000261150 ENST00000615648 Transcript synonymous_variant 8736/16005 8661/15267 2887/5088 P ccC/ccT 1 NA -1 EPPK1 HGNC HGNC:15577 protein_coding YES CCDS75800.1 ENSP00000484472 P58107.161 UPI0002065B93 NM_031308.4 2/2 Gene3D:3.90.1290.10,Pfam:PF00681,PANTHER:PTHR23169,PANTHER:PTHR23169:SF21,SMART:SM00250,Superfamily:SSF75399 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . CGG . 581.03 NA NA NA NA NA NA NA NA NA 143864593 EPPK1 83481 . GRCh38 chr8 143864608 143864608 + Silent SNP G G A rs1331164771 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.8646C>T p.Gly2882= p.G2882= ENST00000615648 2/2 NA NA NA NA NA NA EPPK1,synonymous_variant,p.Gly2882=,ENST00000615648,NM_031308.4;EPPK1,synonymous_variant,p.Gly2857=,ENST00000568225,; A ENSG00000261150 ENST00000615648 Transcript synonymous_variant 8721/16005 8646/15267 2882/5088 G ggC/ggT rs1331164771 1 NA -1 EPPK1 HGNC HGNC:15577 protein_coding YES CCDS75800.1 ENSP00000484472 P58107.161 UPI0002065B93 NM_031308.4 2/2 Gene3D:3.90.1290.10,Pfam:PF00681,PANTHER:PTHR23169,PANTHER:PTHR23169:SF21,SMART:SM00250,Superfamily:SSF75399 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . CGC . 976.03 NA NA NA NA NA NA NA NA NA 143864608 EPPK1 83481 . GRCh38 chr8 143864617 143864617 + Silent SNP G G A rs1308367391 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.8637C>T p.Ile2879= p.I2879= ENST00000615648 2/2 NA NA NA NA NA NA EPPK1,synonymous_variant,p.Ile2879=,ENST00000615648,NM_031308.4;EPPK1,synonymous_variant,p.Ile2854=,ENST00000568225,; A ENSG00000261150 ENST00000615648 Transcript synonymous_variant 8712/16005 8637/15267 2879/5088 I atC/atT rs1308367391 1 NA -1 EPPK1 HGNC HGNC:15577 protein_coding YES CCDS75800.1 ENSP00000484472 P58107.161 UPI0002065B93 NM_031308.4 2/2 Gene3D:3.90.1290.10,Pfam:PF00681,PANTHER:PTHR23169,PANTHER:PTHR23169:SF21,SMART:SM00250,Superfamily:SSF75399 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . CGA . 1021.03 NA NA NA NA NA NA NA NA NA 143864617 EPPK1 83481 . GRCh38 chr8 143864626 143864626 + Silent SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.8628G>A p.Glu2876= p.E2876= ENST00000615648 2/2 NA NA NA NA NA NA EPPK1,synonymous_variant,p.Glu2876=,ENST00000615648,NM_031308.4;EPPK1,synonymous_variant,p.Glu2851=,ENST00000568225,; T ENSG00000261150 ENST00000615648 Transcript synonymous_variant 8703/16005 8628/15267 2876/5088 E gaG/gaA 1 NA -1 EPPK1 HGNC HGNC:15577 protein_coding YES CCDS75800.1 ENSP00000484472 P58107.161 UPI0002065B93 NM_031308.4 2/2 Gene3D:3.90.1290.10,Pfam:PF00681,PANTHER:PTHR23169,PANTHER:PTHR23169:SF21,SMART:SM00250,Superfamily:SSF75399 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . CCT . 931.03 NA NA NA NA NA NA NA NA NA 143864626 EPPK1 83481 . GRCh38 chr8 143864631 143864631 + Silent SNP G G A rs1478355305 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.8623C>T p.Leu2875= p.L2875= ENST00000615648 2/2 NA NA NA NA NA NA EPPK1,synonymous_variant,p.Leu2875=,ENST00000615648,NM_031308.4;EPPK1,synonymous_variant,p.Leu2850=,ENST00000568225,; A ENSG00000261150 ENST00000615648 Transcript synonymous_variant 8698/16005 8623/15267 2875/5088 L Ctg/Ttg rs1478355305 1 NA -1 EPPK1 HGNC HGNC:15577 protein_coding YES CCDS75800.1 ENSP00000484472 P58107.161 UPI0002065B93 NM_031308.4 2/2 Gene3D:3.90.1290.10,Pfam:PF00681,PANTHER:PTHR23169,PANTHER:PTHR23169:SF21,SMART:SM00250,Superfamily:SSF75399 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . AGC . 931.03 NA NA NA NA NA NA NA NA NA 143864631 EPPK1 83481 . GRCh38 chr8 143864634 143864634 + Silent SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.8620C>T p.Leu2874= p.L2874= ENST00000615648 2/2 NA NA NA NA NA NA EPPK1,synonymous_variant,p.Leu2874=,ENST00000615648,NM_031308.4;EPPK1,synonymous_variant,p.Leu2849=,ENST00000568225,; A ENSG00000261150 ENST00000615648 Transcript synonymous_variant 8695/16005 8620/15267 2874/5088 L Ctg/Ttg 1 NA -1 EPPK1 HGNC HGNC:15577 protein_coding YES CCDS75800.1 ENSP00000484472 P58107.161 UPI0002065B93 NM_031308.4 2/2 Gene3D:3.90.1290.10,Pfam:PF00681,PANTHER:PTHR23169,PANTHER:PTHR23169:SF21,SMART:SM00250,Superfamily:SSF75399 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . AGG . 841.03 NA NA NA NA NA NA NA NA NA 143864634 EPPK1 83481 . GRCh38 chr8 143864635 143864635 + Silent SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.8619C>T p.Arg2873= p.R2873= ENST00000615648 2/2 NA NA NA NA NA NA EPPK1,synonymous_variant,p.Arg2873=,ENST00000615648,NM_031308.4;EPPK1,synonymous_variant,p.Arg2848=,ENST00000568225,; A ENSG00000261150 ENST00000615648 Transcript synonymous_variant 8694/16005 8619/15267 2873/5088 R cgC/cgT 1 NA -1 EPPK1 HGNC HGNC:15577 protein_coding YES CCDS75800.1 ENSP00000484472 P58107.161 UPI0002065B93 NM_031308.4 2/2 Gene3D:3.90.1290.10,Pfam:PF00681,PANTHER:PTHR23169,PANTHER:PTHR23169:SF21,SMART:SM00250,Superfamily:SSF75399 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . GGC . 841.03 NA NA NA NA NA NA NA NA NA 143864635 EPPK1 83481 . GRCh38 chr8 143864638 143864638 + Silent SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.8616C>T p.Ile2872= p.I2872= ENST00000615648 2/2 NA NA NA NA NA NA EPPK1,synonymous_variant,p.Ile2872=,ENST00000615648,NM_031308.4;EPPK1,synonymous_variant,p.Ile2847=,ENST00000568225,; A ENSG00000261150 ENST00000615648 Transcript synonymous_variant 8691/16005 8616/15267 2872/5088 I atC/atT 1 NA -1 EPPK1 HGNC HGNC:15577 protein_coding YES CCDS75800.1 ENSP00000484472 P58107.161 UPI0002065B93 NM_031308.4 2/2 Gene3D:3.90.1290.10,PANTHER:PTHR23169,PANTHER:PTHR23169:SF21,SMART:SM00250,Superfamily:SSF75399 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . GGA . 841.03 NA NA NA NA NA NA NA NA NA 143864638 EPPK1 83481 . GRCh38 chr8 143864644 143864644 + Silent SNP G G A rs1485556207 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.8610C>T p.His2870= p.H2870= ENST00000615648 2/2 NA NA NA NA NA NA EPPK1,synonymous_variant,p.His2870=,ENST00000615648,NM_031308.4;EPPK1,synonymous_variant,p.His2845=,ENST00000568225,; A ENSG00000261150 ENST00000615648 Transcript synonymous_variant 8685/16005 8610/15267 2870/5088 H caC/caT rs1485556207 1 NA -1 EPPK1 HGNC HGNC:15577 protein_coding YES CCDS75800.1 ENSP00000484472 P58107.161 UPI0002065B93 NM_031308.4 2/2 Gene3D:3.90.1290.10,PANTHER:PTHR23169,PANTHER:PTHR23169:SF21,SMART:SM00250,Superfamily:SSF75399 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . CGT . 751.03 NA NA NA NA NA NA NA NA NA 143864644 EPPK1 83481 . GRCh38 chr8 143864646 143864647 + Frame_Shift_Ins INS - - GT novel NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.8607_8608insAC p.His2870ThrfsTer40 p.H2870Tfs*40 ENST00000615648 2/2 NA NA NA NA NA NA EPPK1,frameshift_variant,p.His2870ThrfsTer40,ENST00000615648,NM_031308.4;EPPK1,frameshift_variant,p.His2845ThrfsTer40,ENST00000568225,; GT ENSG00000261150 ENST00000615648 Transcript frameshift_variant 8682-8683/16005 8607-8608/15267 2869-2870/5088 -/X -/AC 1 NA -1 EPPK1 HGNC HGNC:15577 protein_coding YES CCDS75800.1 ENSP00000484472 P58107.161 UPI0002065B93 NM_031308.4 2/2 Gene3D:3.90.1290.10,PANTHER:PTHR23169,PANTHER:PTHR23169:SF21,SMART:SM00250,Superfamily:SSF75399 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 insertion 5 NA NA NA . TGC . 706.06 NA NA NA NA NA NA NA NA NA 143864646 EPPK1 83481 . GRCh38 chr8 143864650 143864650 + Silent SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.8604G>A p.Arg2868= p.R2868= ENST00000615648 2/2 NA NA NA NA NA NA EPPK1,synonymous_variant,p.Arg2868=,ENST00000615648,NM_031308.4;EPPK1,synonymous_variant,p.Arg2843=,ENST00000568225,; T ENSG00000261150 ENST00000615648 Transcript synonymous_variant 8679/16005 8604/15267 2868/5088 R cgG/cgA 1 NA -1 EPPK1 HGNC HGNC:15577 protein_coding YES CCDS75800.1 ENSP00000484472 P58107.161 UPI0002065B93 NM_031308.4 2/2 Gene3D:3.90.1290.10,PANTHER:PTHR23169,PANTHER:PTHR23169:SF21,SMART:SM00250,Superfamily:SSF75399 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . CCC . 616.03 NA NA NA NA NA NA NA NA NA 143864650 EPPK1 83481 . GRCh38 chr8 143864652 143864653 + Frame_Shift_Del DEL GG GG - novel NA HCI-EC-23 NORMAL GG GG NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.8601_8602del p.Arg2868GlyfsTer305 p.R2868Gfs*305 ENST00000615648 2/2 NA NA NA NA NA NA EPPK1,frameshift_variant,p.Arg2868GlyfsTer305,ENST00000615648,NM_031308.4;EPPK1,frameshift_variant,p.Arg2843GlyfsTer305,ENST00000568225,; - ENSG00000261150 ENST00000615648 Transcript frameshift_variant 8676-8677/16005 8601-8602/15267 2867-2868/5088 VR/VX gtCCgg/gtgg 1 NA -1 EPPK1 HGNC HGNC:15577 protein_coding YES CCDS75800.1 ENSP00000484472 P58107.161 UPI0002065B93 NM_031308.4 2/2 Gene3D:3.90.1290.10,PANTHER:PTHR23169,PANTHER:PTHR23169:SF21,SMART:SM00250,Superfamily:SSF75399 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 5 NA NA NA . CCGGA . 616.03 NA NA NA NA NA NA NA NA NA 143864651 EPPK1 83481 . GRCh38 chr8 143864656 143864656 + Silent SNP G G A rs1278423373 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.8598C>T p.Ile2866= p.I2866= ENST00000615648 2/2 NA NA NA NA NA NA EPPK1,synonymous_variant,p.Ile2866=,ENST00000615648,NM_031308.4;EPPK1,synonymous_variant,p.Ile2841=,ENST00000568225,; A ENSG00000261150 ENST00000615648 Transcript synonymous_variant 8673/16005 8598/15267 2866/5088 I atC/atT rs1278423373 1 NA -1 EPPK1 HGNC HGNC:15577 protein_coding YES CCDS75800.1 ENSP00000484472 P58107.161 UPI0002065B93 NM_031308.4 2/2 Gene3D:3.90.1290.10,PANTHER:PTHR23169,PANTHER:PTHR23169:SF21,SMART:SM00250,Superfamily:SSF75399 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . CGA . 553.02 NA NA NA NA NA NA NA NA NA 143864656 EPPK1 83481 . GRCh38 chr8 143864666 143864666 + Missense_Mutation SNP T T C novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.8588A>G p.Lys2863Arg p.K2863R ENST00000615648 2/2 NA NA NA NA NA NA EPPK1,missense_variant,p.Lys2863Arg,ENST00000615648,NM_031308.4;EPPK1,missense_variant,p.Lys2838Arg,ENST00000568225,; C ENSG00000261150 ENST00000615648 Transcript missense_variant 8663/16005 8588/15267 2863/5088 K/R aAg/aGg 1 NA -1 EPPK1 HGNC HGNC:15577 protein_coding YES CCDS75800.1 ENSP00000484472 P58107.161 UPI0002065B93 NM_031308.4 tolerated(0.39) benign(0.285) 2/2 Gene3D:3.90.1290.10,PANTHER:PTHR23169,PANTHER:PTHR23169:SF21,SMART:SM00250,Superfamily:SSF75399 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . CTT . 508.02 NA NA NA NA NA NA NA NA NA 143864666 EPPK1 83481 . GRCh38 chr8 143864695 143864695 + Missense_Mutation SNP C C G novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.8559G>C p.Gln2853His p.Q2853H ENST00000615648 2/2 NA NA NA NA NA NA EPPK1,missense_variant,p.Gln2853His,ENST00000615648,NM_031308.4;EPPK1,missense_variant,p.Gln2828His,ENST00000568225,; G ENSG00000261150 ENST00000615648 Transcript missense_variant 8634/16005 8559/15267 2853/5088 Q/H caG/caC 1 NA -1 EPPK1 HGNC HGNC:15577 protein_coding YES CCDS75800.1 ENSP00000484472 P58107.161 UPI0002065B93 NM_031308.4 tolerated(0.17) benign(0.398) 2/2 Gene3D:3.90.1290.10,PANTHER:PTHR23169,PANTHER:PTHR23169:SF21,SMART:SM00250,Superfamily:SSF75399 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . GCT . 255.93 NA NA NA NA NA NA NA NA NA 143864695 EPPK1 83481 . GRCh38 chr8 143864697 143864697 + Missense_Mutation SNP G G C novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.8557C>G p.Gln2853Glu p.Q2853E ENST00000615648 2/2 NA NA NA NA NA NA EPPK1,missense_variant,p.Gln2853Glu,ENST00000615648,NM_031308.4;EPPK1,missense_variant,p.Gln2828Glu,ENST00000568225,; C ENSG00000261150 ENST00000615648 Transcript missense_variant 8632/16005 8557/15267 2853/5088 Q/E Cag/Gag 1 NA -1 EPPK1 HGNC HGNC:15577 protein_coding YES CCDS75800.1 ENSP00000484472 P58107.161 UPI0002065B93 NM_031308.4 tolerated(1) benign(0.095) 2/2 Gene3D:3.90.1290.10,PANTHER:PTHR23169,PANTHER:PTHR23169:SF21,SMART:SM00250,Superfamily:SSF75399 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . TGC . 255.93 NA NA NA NA NA NA NA NA NA 143864697 EPPK1 83481 . GRCh38 chr8 143864713 143864713 + Silent SNP G G C novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.8541C>G p.Thr2847= p.T2847= ENST00000615648 2/2 NA NA NA NA NA NA EPPK1,synonymous_variant,p.Thr2847=,ENST00000615648,NM_031308.4;EPPK1,synonymous_variant,p.Thr2822=,ENST00000568225,; C ENSG00000261150 ENST00000615648 Transcript synonymous_variant 8616/16005 8541/15267 2847/5088 T acC/acG 1 NA -1 EPPK1 HGNC HGNC:15577 protein_coding YES CCDS75800.1 ENSP00000484472 P58107.161 UPI0002065B93 NM_031308.4 2/2 Gene3D:3.90.1290.10,PANTHER:PTHR23169,PANTHER:PTHR23169:SF21,SMART:SM00250,Superfamily:SSF75399 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . CGG . 210.92 NA NA NA NA NA NA NA NA NA 143864713 EPPK1 83481 . GRCh38 chr8 143864719 143864719 + Silent SNP G G C novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.8535C>G p.Gly2845= p.G2845= ENST00000615648 2/2 NA NA NA NA NA NA EPPK1,synonymous_variant,p.Gly2845=,ENST00000615648,NM_031308.4;EPPK1,synonymous_variant,p.Gly2820=,ENST00000568225,; C ENSG00000261150 ENST00000615648 Transcript synonymous_variant 8610/16005 8535/15267 2845/5088 G ggC/ggG 1 NA -1 EPPK1 HGNC HGNC:15577 protein_coding YES CCDS75800.1 ENSP00000484472 P58107.161 UPI0002065B93 NM_031308.4 2/2 Gene3D:3.90.1290.10,PANTHER:PTHR23169,PANTHER:PTHR23169:SF21,SMART:SM00250,Superfamily:SSF75399 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . AGC . 210.92 NA NA NA NA NA NA NA NA NA 143864719 EPPK1 83481 . GRCh38 chr8 143864728 143864728 + Silent SNP G G C novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.8526C>G p.Ala2842= p.A2842= ENST00000615648 2/2 NA NA NA NA NA NA EPPK1,synonymous_variant,p.Ala2842=,ENST00000615648,NM_031308.4;EPPK1,synonymous_variant,p.Ala2817=,ENST00000568225,; C ENSG00000261150 ENST00000615648 Transcript synonymous_variant 8601/16005 8526/15267 2842/5088 A gcC/gcG 1 NA -1 EPPK1 HGNC HGNC:15577 protein_coding YES CCDS75800.1 ENSP00000484472 P58107.161 UPI0002065B93 NM_031308.4 2/2 Gene3D:3.90.1290.10,PANTHER:PTHR23169,PANTHER:PTHR23169:SF21,SMART:SM00250,Superfamily:SSF75399 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . CGG . 210.92 NA NA NA NA NA NA NA NA NA 143864728 EPPK1 83481 . GRCh38 chr8 143864731 143864731 + Silent SNP G G A rs1448527466 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.8523C>T p.Arg2841= p.R2841= ENST00000615648 2/2 NA NA NA NA NA NA EPPK1,synonymous_variant,p.Arg2841=,ENST00000615648,NM_031308.4;EPPK1,synonymous_variant,p.Arg2816=,ENST00000568225,; A ENSG00000261150 ENST00000615648 Transcript synonymous_variant 8598/16005 8523/15267 2841/5088 R cgC/cgT rs1448527466 1 NA -1 EPPK1 HGNC HGNC:15577 protein_coding YES CCDS75800.1 ENSP00000484472 P58107.161 UPI0002065B93 NM_031308.4 2/2 Gene3D:3.90.1290.10,PANTHER:PTHR23169,PANTHER:PTHR23169:SF21,SMART:SM00250,Superfamily:SSF75399 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . CGC . 210.92 NA NA NA NA NA NA NA NA NA 143864731 EPPK1 83481 . GRCh38 chr8 143864737 143864737 + Silent SNP G G A rs1458811642 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.8517C>T p.Ala2839= p.A2839= ENST00000615648 2/2 NA NA NA NA NA NA EPPK1,synonymous_variant,p.Ala2839=,ENST00000615648,NM_031308.4;EPPK1,synonymous_variant,p.Ala2814=,ENST00000568225,; A ENSG00000261150 ENST00000615648 Transcript synonymous_variant 8592/16005 8517/15267 2839/5088 A gcC/gcT rs1458811642 1 NA -1 EPPK1 HGNC HGNC:15577 protein_coding YES CCDS75800.1 ENSP00000484472 P58107.161 UPI0002065B93 NM_031308.4 2/2 Gene3D:3.90.1290.10,PANTHER:PTHR23169,PANTHER:PTHR23169:SF21,SMART:SM00250,Superfamily:SSF75399 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . CGG . 210.92 NA NA NA NA NA NA NA NA NA 143864737 EPPK1 83481 . GRCh38 chr8 143864740 143864740 + Silent SNP C C A novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.8514G>T p.Ser2838= p.S2838= ENST00000615648 2/2 NA NA NA NA NA NA EPPK1,synonymous_variant,p.Ser2838=,ENST00000615648,NM_031308.4;EPPK1,synonymous_variant,p.Ser2813=,ENST00000568225,; A ENSG00000261150 ENST00000615648 Transcript synonymous_variant 8589/16005 8514/15267 2838/5088 S tcG/tcT 1 NA -1 EPPK1 HGNC HGNC:15577 protein_coding YES CCDS75800.1 ENSP00000484472 P58107.161 UPI0002065B93 NM_031308.4 2/2 Gene3D:3.90.1290.10,PANTHER:PTHR23169,PANTHER:PTHR23169:SF21,SMART:SM00250,Superfamily:SSF75399 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . CCG . 166.1 NA NA NA NA NA NA NA NA NA 143864740 EPPK1 83481 . GRCh38 chr8 143864755 143864755 + Silent SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.8499G>A p.Gln2833= p.Q2833= ENST00000615648 2/2 NA NA NA NA NA NA EPPK1,synonymous_variant,p.Gln2833=,ENST00000615648,NM_031308.4;EPPK1,synonymous_variant,p.Gln2808=,ENST00000568225,; T ENSG00000261150 ENST00000615648 Transcript synonymous_variant 8574/16005 8499/15267 2833/5088 Q caG/caA 1 NA -1 EPPK1 HGNC HGNC:15577 protein_coding YES CCDS75800.1 ENSP00000484472 P58107.161 UPI0002065B93 NM_031308.4 2/2 Gene3D:3.90.1290.10,Pfam:PF00681,PANTHER:PTHR23169,PANTHER:PTHR23169:SF21,SMART:SM00250,Superfamily:SSF75399 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . CCT . 166.1 NA NA NA NA NA NA NA NA NA 143864755 EPPK1 83481 . GRCh38 chr8 143864767 143864767 + Silent SNP G G T novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.8487C>A p.Gly2829= p.G2829= ENST00000615648 2/2 NA NA NA NA NA NA EPPK1,synonymous_variant,p.Gly2829=,ENST00000615648,NM_031308.4;EPPK1,synonymous_variant,p.Gly2804=,ENST00000568225,; T ENSG00000261150 ENST00000615648 Transcript synonymous_variant 8562/16005 8487/15267 2829/5088 G ggC/ggA 1 NA -1 EPPK1 HGNC HGNC:15577 protein_coding YES CCDS75800.1 ENSP00000484472 P58107.161 UPI0002065B93 NM_031308.4 2/2 Gene3D:3.90.1290.10,Pfam:PF00681,PANTHER:PTHR23169,PANTHER:PTHR23169:SF21,SMART:SM00250,Superfamily:SSF75399,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . CGC . 78.28 NA NA NA NA NA NA NA NA NA 143864767 EPPK1 83481 . GRCh38 chr8 143865220 143865220 + Silent SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.8034C>T p.Ala2678= p.A2678= ENST00000615648 2/2 NA NA NA NA NA NA EPPK1,synonymous_variant,p.Ala2678=,ENST00000615648,NM_031308.4;EPPK1,synonymous_variant,p.Ala2653=,ENST00000568225,; A ENSG00000261150 ENST00000615648 Transcript synonymous_variant 8109/16005 8034/15267 2678/5088 A gcC/gcT 1 NA -1 EPPK1 HGNC HGNC:15577 protein_coding YES CCDS75800.1 ENSP00000484472 P58107.161 UPI0002065B93 NM_031308.4 2/2 PANTHER:PTHR23169,PANTHER:PTHR23169:SF21,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . GGG . 73.6 NA NA NA NA NA NA NA NA NA 143865220 EPPK1 83481 . GRCh38 chr8 143865355 143865357 + In_Frame_Del DEL GGC GGC - rs1209441891 NA HCI-EC-23 NORMAL GGC GGC NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.7897_7899del p.Ala2633del p.A2633del ENST00000615648 2/2 NA NA NA NA NA NA EPPK1,inframe_deletion,p.Ala2633del,ENST00000615648,NM_031308.4;EPPK1,inframe_deletion,p.Ala2608del,ENST00000568225,; - ENSG00000261150 ENST00000615648 Transcript inframe_deletion 7972-7974/16005 7897-7899/15267 2633/5088 A/- GCC/- rs1209441891 1 NA -1 EPPK1 HGNC HGNC:15577 protein_coding YES CCDS75800.1 ENSP00000484472 P58107.161 UPI0002065B93 NM_031308.4 2/2 PANTHER:PTHR23169,PANTHER:PTHR23169:SF21,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 deletion 5 NA NA NA . CGGGCG . 2003.03 NA NA NA NA NA NA NA NA NA 143865354 EPPK1 83481 . GRCh38 chr8 143870645 143870645 + Missense_Mutation SNP G G A rs368491047 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2609C>T p.Ala870Val p.A870V ENST00000615648 2/2 NA NA NA NA NA NA EPPK1,missense_variant,p.Ala870Val,ENST00000615648,NM_031308.4;EPPK1,missense_variant,p.Ala845Val,ENST00000568225,; A ENSG00000261150 ENST00000615648 Transcript missense_variant 2684/16005 2609/15267 870/5088 A/V gCg/gTg rs368491047 1 NA -1 EPPK1 HGNC HGNC:15577 protein_coding YES CCDS75800.1 ENSP00000484472 P58107.161 UPI0002065B93 NM_031308.4 tolerated(0.15) benign(0.027) 2/2 Gene3D:3.90.1290.10,PANTHER:PTHR23169,PANTHER:PTHR23169:SF21,SMART:SM00250 NA NA NA NA NA NA NA 0.0002334 NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . CGC . 6782.6 3.48e-05 0.0002292 NA NA NA NA 1.958e-05 NA 0.000103 143870645 PLEC 5339 . GRCh38 chr8 143918556 143918556 + Silent SNP G G A rs181485778 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.11676C>T p.Pro3892= p.P3892= ENST00000322810 32/32 NA NA NA NA NA NA PLEC,synonymous_variant,p.Pro3892=,ENST00000322810,NM_201380.4;PLEC,synonymous_variant,p.Pro3755=,ENST00000345136,NM_201384.3;PLEC,synonymous_variant,p.Pro3782=,ENST00000436759,NM_000445.5;PLEC,synonymous_variant,p.Pro3733=,ENST00000354958,NM_201379.3;PLEC,synonymous_variant,p.Pro3755=,ENST00000354589,NM_201382.4;PLEC,synonymous_variant,p.Pro3759=,ENST00000357649,NM_201383.3;PLEC,synonymous_variant,p.Pro3741=,ENST00000356346,NM_201378.4;PLEC,synonymous_variant,p.Pro3723=,ENST00000398774,NM_201381.3;PLEC,synonymous_variant,p.Pro3778=,ENST00000527096,;PLEC,synonymous_variant,p.Pro2655=,ENST00000527303,; A ENSG00000178209 ENST00000322810 Transcript synonymous_variant 11846/15249 11676/14055 3892/4684 P ccC/ccT rs181485778,COSV59619628 1 NA -1 PLEC HGNC HGNC:9069 protein_coding YES CCDS43772.1 ENSP00000323856 Q15149.229 UPI0000233FCD NM_201380.4 32/32 Gene3D:3.90.1290.10,Pfam:PF00681,PANTHER:PTHR23169,PANTHER:PTHR23169:SF20,SMART:SM00250,Superfamily:SSF75399 4e-04 8e-04 NA NA NA 0.001 NA NA NA 0,1 NA NA NA NA LOW 1 SNV 1 NA 0,1 NA 1 . CGG . 18766.6 1.674e-05 7.172e-05 NA NA NA NA 2.798e-05 NA NA 143918556 GRINA 2907 . GRCh38 chr8 143991991 143991991 + Silent SNP C C T rs141624616 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.606C>T p.Val202= p.V202= ENST00000313269 4/7 NA NA NA NA NA NA GRINA,synonymous_variant,p.Val202=,ENST00000313269,NM_000837.1;GRINA,synonymous_variant,p.Val202=,ENST00000395068,NM_001009184.2;GRINA,synonymous_variant,p.Val202=,ENST00000529301,;GRINA,synonymous_variant,p.Val126=,ENST00000534791,;GRINA,intron_variant,,ENST00000527194,;PARP10,intron_variant,,ENST00000530478,;GRINA,intron_variant,,ENST00000533044,;PARP10,upstream_gene_variant,,ENST00000525486,;PARP10,upstream_gene_variant,,ENST00000525879,;PARP10,upstream_gene_variant,,ENST00000528136,;PARP10,upstream_gene_variant,,ENST00000528625,;PARP10,upstream_gene_variant,,ENST00000528914,;PARP10,upstream_gene_variant,,ENST00000529311,;PARP10,upstream_gene_variant,,ENST00000529842,;GRINA,downstream_gene_variant,,ENST00000530898,;PARP10,upstream_gene_variant,,ENST00000531537,;PARP10,upstream_gene_variant,,ENST00000532311,;PARP10,upstream_gene_variant,,ENST00000532660,;PARP10,upstream_gene_variant,,ENST00000534737,;GRINA,non_coding_transcript_exon_variant,,ENST00000525513,;GRINA,downstream_gene_variant,,ENST00000531992,;GRINA,upstream_gene_variant,,ENST00000533377,; T ENSG00000178719 ENST00000313269 Transcript synonymous_variant 884/1968 606/1116 202/371 V gtC/gtT rs141624616 1 NA 1 GRINA HGNC HGNC:4589 protein_coding YES CCDS34961.1 ENSP00000314380 Q7Z429.131 UPI000015A99B NM_000837.1 4/7 Pfam:PF01027,PANTHER:PTHR23291,PANTHER:PTHR23291:SF16,Transmembrane_helices:TMhelix,CDD:cd10428 NA NA NA NA NA NA NA NA 0.0001163 NA NA NA NA LOW 1 SNV 5 NA NA NA . TCT . 6375.6 3.98e-06 NA NA NA NA NA 8.804e-06 NA NA 143991991 FBXL6 26233 . GRCh38 chr8 144356998 144356998 + Missense_Mutation SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.763C>T p.His255Tyr p.H255Y ENST00000331890 4/9 NA NA NA NA NA NA FBXL6,missense_variant,p.His255Tyr,ENST00000331890,NM_012162.4;FBXL6,missense_variant,p.His249Tyr,ENST00000455319,NM_024555.6;SLC52A2,intron_variant,,ENST00000524541,;SLC52A2,intron_variant,,ENST00000532815,;SLC52A2,intron_variant,,ENST00000675292,;SLC52A2,intron_variant,,ENST00000675888,;SLC52A2,upstream_gene_variant,,ENST00000329994,NM_024531.5;SLC52A2,upstream_gene_variant,,ENST00000402965,;SLC52A2,upstream_gene_variant,,ENST00000526338,;SLC52A2,upstream_gene_variant,,ENST00000526752,;SLC52A2,upstream_gene_variant,,ENST00000526891,;SLC52A2,upstream_gene_variant,,ENST00000527078,NM_001363120.2;SLC52A2,upstream_gene_variant,,ENST00000530047,NM_001253816.2;SLC52A2,upstream_gene_variant,,ENST00000533662,;SLC52A2,upstream_gene_variant,,ENST00000534725,;TMEM249,upstream_gene_variant,,ENST00000562477,NM_001252404.3;TMEM249,upstream_gene_variant,,ENST00000565365,NM_001280561.1,NM_001252402.3;SLC52A2,upstream_gene_variant,,ENST00000643944,NM_001363118.2,NM_001363121.2;SLC52A2,upstream_gene_variant,,ENST00000674870,;SLC52A2,upstream_gene_variant,,ENST00000674929,;SLC52A2,upstream_gene_variant,,ENST00000675121,NM_001253815.2;SLC52A2,upstream_gene_variant,,ENST00000675280,;SLC52A2,upstream_gene_variant,,ENST00000675597,NM_001363122.2;SLC52A2,upstream_gene_variant,,ENST00000675787,;SLC52A2,upstream_gene_variant,,ENST00000676094,;FBXL6,non_coding_transcript_exon_variant,,ENST00000526524,;SLC52A2,intron_variant,,ENST00000644270,;FBXL6,upstream_gene_variant,,ENST00000524909,;FBXL6,upstream_gene_variant,,ENST00000527000,;FBXL6,downstream_gene_variant,,ENST00000530687,;FBXL6,non_coding_transcript_exon_variant,,ENST00000530142,;FBXL6,non_coding_transcript_exon_variant,,ENST00000524492,;FBXL6,non_coding_transcript_exon_variant,,ENST00000529279,;SLC52A2,upstream_gene_variant,,ENST00000526779,;AC233992.2,upstream_gene_variant,,ENST00000531225,;TMEM249,upstream_gene_variant,,ENST00000561638,;SLC52A2,upstream_gene_variant,,ENST00000674779,;SLC52A2,upstream_gene_variant,,ENST00000674821,;SLC52A2,upstream_gene_variant,,ENST00000675998,;SLC52A2,upstream_gene_variant,,ENST00000676358,;,regulatory_region_variant,,ENSR00000232236,; A ENSG00000182325 ENST00000331890 Transcript missense_variant 788/1745 763/1620 255/539 H/Y Cac/Tac 1 NA -1 FBXL6 HGNC HGNC:13603 protein_coding YES CCDS6422.1 ENSP00000330098 Q8N531.154 UPI0002064E15 NM_012162.4 tolerated(0.16) probably_damaging(0.999) 4/9 PANTHER:PTHR16134,PANTHER:PTHR16134:SF28,Gene3D:3.80.10.10,Superfamily:SSF52047 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . TGC . 4264.6 NA NA NA NA NA NA NA NA NA 144356998 ADCK5 203054 . GRCh38 chr8 144392334 144392335 + In_Frame_Ins INS - - GGGGGTGCAAGGTGA rs148509143 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1260_1267+7dup ENST00000308860 12/15 NA NA NA NA NA NA ADCK5,inframe_insertion,,ENST00000308860,NM_174922.5;CPSF1,downstream_gene_variant,,ENST00000531727,;CPSF1,downstream_gene_variant,,ENST00000532935,;CPSF1,downstream_gene_variant,,ENST00000616140,NM_013291.3;CPSF1,downstream_gene_variant,,ENST00000620219,;MIR939,downstream_gene_variant,,ENST00000401314,;ADCK5,downstream_gene_variant,,ENST00000526231,;ADCK5,downstream_gene_variant,,ENST00000534714,;ADCK5,3_prime_UTR_variant,,ENST00000529654,;CPSF1,downstream_gene_variant,,ENST00000526271,;ADCK5,downstream_gene_variant,,ENST00000526833,;CPSF1,downstream_gene_variant,,ENST00000527827,;CPSF1,downstream_gene_variant,,ENST00000529288,;CPSF1,downstream_gene_variant,,ENST00000531042,;CPSF1,downstream_gene_variant,,ENST00000531480,;ADCK5,downstream_gene_variant,,ENST00000532190,;CPSF1,downstream_gene_variant,,ENST00000532725,;ADCK5,downstream_gene_variant,,ENST00000533715,; GGGGGTGCAAGGTGA ENSG00000173137 ENST00000308860 Transcript inframe_insertion 1305-1306/1960 1256-1257/1743 419/580 L/LGVQGE ctg/ctGGGGGTGCAAGGTGAg rs148509143 1 NA 1 ADCK5 HGNC HGNC:21738 protein_coding YES CCDS34965.2 ENSP00000310547 Q3MIX3.123 UPI00005B7249 NM_174922.5 12/15 PANTHER:PTHR43173:SF7,PANTHER:PTHR43173 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 insertion 1 NA NA NA . CTG . 2160.64 8.65e-05 0.000163 5.085e-05 NA NA NA 8.678e-05 0.0006916 7.688e-05 144392334 TONSL 4796 . GRCh38 chr8 144442256 144442256 + Silent SNP G G A rs767602201 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.735C>T p.Cys245= p.C245= ENST00000409379 6/26 NA NA NA NA NA NA TONSL,synonymous_variant,p.Cys245=,ENST00000409379,NM_013432.5;TONSL,intron_variant,,ENST00000613741,;TONSL-AS1,downstream_gene_variant,,ENST00000442850,;TONSL,non_coding_transcript_exon_variant,,ENST00000497613,; A ENSG00000160949 ENST00000409379 Transcript synonymous_variant 761/4531 735/4137 245/1378 C tgC/tgT rs767602201 1 NA -1 TONSL HGNC HGNC:7801 protein_coding YES CCDS34968.2 ENSP00000386239 Q96HA7.165 UPI0000424A3B NM_013432.5 6/26 Gene3D:1.25.40.10,Pfam:PF13181,PROSITE_profiles:PS50293,PANTHER:PTHR46358,SMART:SM00028,Superfamily:SSF48452 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . CGC . 14345.6 8.335e-06 NA NA 0.0001097 NA NA 9.266e-06 NA NA 144442256 FOXH1 8928 . GRCh38 chr8 144474920 144474920 + Missense_Mutation SNP G G A rs373424413 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.416C>T p.Ala139Val p.A139V ENST00000377317 3/3 NA NA NA NA NA NA FOXH1,missense_variant,p.Ala139Val,ENST00000377317,NM_003923.3;KIFC2,downstream_gene_variant,,ENST00000301332,NM_145754.5;KIFC2,downstream_gene_variant,,ENST00000642354,;KIFC2,downstream_gene_variant,,ENST00000645548,NM_001369769.2;FOXH1,non_coding_transcript_exon_variant,,ENST00000525197,;PPP1R16A,upstream_gene_variant,,ENST00000529283,;KIFC2,downstream_gene_variant,,ENST00000531423,;PPP1R16A,upstream_gene_variant,,ENST00000533088,;PPP1R16A,upstream_gene_variant,,ENST00000526183,;PPP1R16A,upstream_gene_variant,,ENST00000526643,;KIFC2,downstream_gene_variant,,ENST00000531425,;KIFC2,downstream_gene_variant,,ENST00000643461,;,regulatory_region_variant,,ENSR00000873380,; A ENSG00000160973 ENST00000377317 Transcript missense_variant 509/2017 416/1098 139/365 A/V gCc/gTc rs373424413 1 NA -1 FOXH1 HGNC HGNC:3814 protein_coding YES CCDS6428.1 ENSP00000366534 O75593.176 UPI0000053417 NM_003923.3 tolerated(0.12) benign(0.03) 3/3 PANTHER:PTHR47316 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . GGC . 5181.6 4.312e-06 NA NA NA NA NA 9.786e-06 NA NA 144474920 ARHGAP39 80728 . GRCh38 chr8 144547991 144547991 + Frame_Shift_Del DEL G G - rs751388541 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1095del p.Ser366ArgfsTer18 p.S366Rfs*18 ENST00000377307 4/11 NA NA NA NA NA NA ARHGAP39,frameshift_variant,p.Ser366ArgfsTer18,ENST00000276826,NM_001308208.2,NM_001308207.1;ARHGAP39,frameshift_variant,p.Ser366ArgfsTer18,ENST00000377307,NM_025251.2;ARHGAP39,upstream_gene_variant,,ENST00000528810,; - ENSG00000147799 ENST00000377307 Transcript frameshift_variant 1180/4673 1095/3345 365/1114 P/X ccC/cc rs751388541 1 NA -1 ARHGAP39 HGNC HGNC:29351 protein_coding YES CCDS34971.1 ENSP00000366522 Q9C0H5.158 UPI000021015B NM_025251.2 4/11 MobiDB_lite:mobidb-lite,PANTHER:PTHR45876,PANTHER:PTHR45876:SF1 NA NA NA NA NA NA NA 0.002892 0.00359 NA NA NA NA HIGH 1 deletion 5 NA NA NA . GAGG . 4562.6 NA NA NA NA NA NA NA NA NA 144547990 ARHGAP39 80728 . GRCh38 chr8 144605572 144605572 + Missense_Mutation SNP C C T rs200377993 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.43G>A p.Asp15Asn p.D15N ENST00000377307 1/11 NA NA NA NA NA NA ARHGAP39,missense_variant,p.Asp15Asn,ENST00000276826,NM_001308208.2,NM_001308207.1;ARHGAP39,missense_variant,p.Asp15Asn,ENST00000377307,NM_025251.2; T ENSG00000147799 ENST00000377307 Transcript missense_variant 128/4673 43/3345 15/1114 D/N Gac/Aac rs200377993 1 NA -1 ARHGAP39 HGNC HGNC:29351 protein_coding YES CCDS34971.1 ENSP00000366522 Q9C0H5.158 UPI000021015B NM_025251.2 tolerated_low_confidence(0.41) benign(0) 1/11 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . TCG . 4965.6 7.961e-06 NA NA NA 5.438e-05 NA NA NA 3.266e-05 144605572 DOCK8 81704 . GRCh38 chr9 405015 405015 + Frame_Shift_Del DEL T T - rs748134881 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3339del p.Phe1113LeufsTer2 p.F1113Lfs*2 ENST00000432829 27/48 NA NA NA NA NA NA DOCK8,frameshift_variant,p.Phe1113LeufsTer2,ENST00000432829,NM_203447.4;DOCK8,frameshift_variant,p.Phe1045LeufsTer2,ENST00000453981,NM_001193536.1;DOCK8,frameshift_variant,p.Phe1013LeufsTer2,ENST00000469391,NM_001190458.2;DOCK8,frameshift_variant,p.Phe580LeufsTer2,ENST00000382329,;DOCK8,frameshift_variant,p.Phe415LeufsTer2,ENST00000382331,;DOCK8,non_coding_transcript_exon_variant,,ENST00000495184,; - ENSG00000107099 ENST00000432829 Transcript frameshift_variant 3444/7448 3332/6300 1111/2099 L/X cTt/ct rs748134881 1 NA 1 DOCK8 HGNC HGNC:19191 protein_coding YES CCDS6440.2 ENSP00000394888 Q8NF50.164 UPI0000E0B9E5 NM_203447.4 27/48 PANTHER:PTHR23317:SF74,PANTHER:PTHR23317 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 7 NA 1 . CCTT . 155.6 NA NA NA NA NA NA NA NA NA 405014 SMARCA2 6595 . GRCh38 chr9 2039777 2039782 + In_Frame_Del DEL CAGCAG CAGCAG - rs113070757 NA HCI-EC-23 NORMAL CAGCAG CAGCAG NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.667_672del p.Gln237_Gln238del p.Q237_Q238del ENST00000382203 4/34 NA NA NA NA NA NA SMARCA2,inframe_deletion,p.Gln237_Gln238del,ENST00000637806,;SMARCA2,inframe_deletion,p.Gln237_Gln238del,ENST00000636559,;SMARCA2,inframe_deletion,p.Gln237_Gln238del,ENST00000382203,NM_001289396.1;SMARCA2,inframe_deletion,p.Gln237_Gln238del,ENST00000357248,NM_139045.4;SMARCA2,inframe_deletion,p.Gln237_Gln238del,ENST00000349721,NM_003070.5;SMARCA2,inframe_deletion,p.Gln237_Gln238del,ENST00000382194,;SMARCA2,inframe_deletion,p.Gln237_Gln238del,ENST00000637103,;SMARCA2,inframe_deletion,p.Gln237_Gln238del,ENST00000450198,NM_001289397.2;SMARCA2,inframe_deletion,p.Gln237_Gln238del,ENST00000636903,;SMARCA2,downstream_gene_variant,,ENST00000439732,;SMARCA2,downstream_gene_variant,,ENST00000457226,;SMARCA2,downstream_gene_variant,,ENST00000634287,;AL359076.1,downstream_gene_variant,,ENST00000426860,;SMARCA2,non_coding_transcript_exon_variant,,ENST00000491574,;SMARCA2,inframe_deletion,p.Gln237_Gln238del,ENST00000634760,; - ENSG00000080503 ENST00000382203 Transcript inframe_deletion 876-881/5867 667-672/4773 223-224/1590 QQ/- CAGCAG/- rs113070757 1 NA 1 SMARCA2 HGNC HGNC:11098 protein_coding YES CCDS34977.1 ENSP00000371638 P51531.212 UPI00001AE8EB NM_001289396.1 4/34 Coiled-coils_(Ncoils):Coil,PANTHER:PTHR10799,PANTHER:PTHR10799:SF541,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA 18414213 NA NA NA NA MODERATE 1 sequence_alteration 1 NA 1 NA 1 . AACAGCAGC . 3953.1 NA NA NA NA NA NA NA NA NA 2039776 KCNV2 169522 . GRCh38 chr9 2718871 2718871 + Missense_Mutation SNP G G A rs752928296 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1132G>A p.Val378Ile p.V378I ENST00000382082 1/2 NA NA NA NA NA NA KCNV2,missense_variant,p.Val378Ile,ENST00000382082,NM_133497.4;PUM3,downstream_gene_variant,,ENST00000490444,; A ENSG00000168263 ENST00000382082 Transcript missense_variant 1362/2178 1132/1638 378/545 V/I Gtc/Atc rs752928296,CM122528,COSV66055578 1 NA 1 KCNV2 HGNC HGNC:19698 protein_coding YES CCDS6447.1 ENSP00000371514 Q8TDN2.155 UPI0000048D8E NM_133497.4 tolerated(1) benign(0.007) 1/2 PANTHER:PTHR11537,PANTHER:PTHR11537:SF40,Gene3D:1.20.120.350,Pfam:PF00520,Superfamily:SSF81324 NA NA NA NA NA NA NA NA NA 0,0,1 NA NA NA NA MODERATE 1 SNV 1 NA 0,1,1 NA 1 . CGT . 4835.6 8.089e-06 6.174e-05 2.894e-05 NA NA NA NA NA NA 2718871 AK3 50808 . GRCh38 chr9 4740986 4740986 + Silent SNP C C T rs1435062557 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.102G>A p.Lys34= p.K34= ENST00000381809 1/5 NA NA NA NA NA NA AK3,synonymous_variant,p.Lys34=,ENST00000381809,NM_016282.4;AK3,synonymous_variant,p.Lys34=,ENST00000447596,NM_001199852.2;AK3,intron_variant,,ENST00000359883,NM_001199853.1;AK3,intron_variant,,ENST00000611749,NM_001199855.1,NM_001199856.1;AL353151.2,upstream_gene_variant,,ENST00000655730,;AL353151.2,upstream_gene_variant,,ENST00000663238,;,regulatory_region_variant,,ENSR00000232773,; T ENSG00000147853 ENST00000381809 Transcript synonymous_variant 217/4219 102/684 34/227 K aaG/aaA rs1435062557 1 NA -1 AK3 HGNC HGNC:17376 protein_coding YES CCDS6455.1 ENSP00000371230 Q9UIJ7.187 UPI000013DAE5 NM_016282.4 1/5 TIGRFAM:TIGR01351,HAMAP:MF_00235,HAMAP:MF_03169,PDB-ENSP_mappings:1zd8.A,CDD:cd01428,PANTHER:PTHR23359:SF68,PANTHER:PTHR23359,Pfam:PF00406,Gene3D:3.40.50.300,Superfamily:SSF52540 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . GCT . 5771.6 NA NA NA NA NA NA NA NA NA 4740986 RIC1 57589 . GRCh38 chr9 5754855 5754855 + Silent SNP C C T rs573748502 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1617C>T p.Ile539= p.I539= ENST00000414202 15/26 NA NA NA NA NA NA RIC1,synonymous_variant,p.Ile539=,ENST00000414202,NM_020829.4;RIC1,synonymous_variant,p.Ile502=,ENST00000418622,NM_001206557.1;RIC1,synonymous_variant,p.Ile539=,ENST00000251879,NM_001135920.3;RIC1,synonymous_variant,p.Ile431=,ENST00000545641,;RIC1,non_coding_transcript_exon_variant,,ENST00000276898,; T ENSG00000107036 ENST00000414202 Transcript synonymous_variant 1820/6786 1617/4272 539/1423 I atC/atT rs573748502,COSV99317934 1 NA 1 RIC1 HGNC HGNC:17686 protein_coding YES CCDS34982.2 ENSP00000416696 Q4ADV7.121 UPI00002110DE NM_020829.4 15/26 PANTHER:PTHR22746 2e-04 8e-04 NA NA NA NA NA NA NA 0,1 NA NA NA NA LOW 1 SNV 5 NA 0,1 NA 1 . TCG . 85.6 3.213e-05 0.0002478 NA NA NA NA 3.541e-05 NA NA 5754855 RIC1 57589 . GRCh38 chr9 5754861 5754861 + Silent SNP A A T novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1623A>T p.Thr541= p.T541= ENST00000414202 15/26 NA NA NA NA NA NA RIC1,synonymous_variant,p.Thr541=,ENST00000414202,NM_020829.4;RIC1,synonymous_variant,p.Thr504=,ENST00000418622,NM_001206557.1;RIC1,synonymous_variant,p.Thr541=,ENST00000251879,NM_001135920.3;RIC1,synonymous_variant,p.Thr433=,ENST00000545641,;RIC1,non_coding_transcript_exon_variant,,ENST00000276898,; T ENSG00000107036 ENST00000414202 Transcript synonymous_variant 1826/6786 1623/4272 541/1423 T acA/acT 1 NA 1 RIC1 HGNC HGNC:17686 protein_coding YES CCDS34982.2 ENSP00000416696 Q4ADV7.121 UPI00002110DE NM_020829.4 15/26 PANTHER:PTHR22746 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA 1 . CAG . 85.6 NA NA NA NA NA NA NA NA NA 5754861 RIC1 57589 . GRCh38 chr9 5754880 5754880 + Missense_Mutation SNP A A G novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1642A>G p.Asn548Asp p.N548D ENST00000414202 15/26 NA NA NA NA NA NA RIC1,missense_variant,p.Asn548Asp,ENST00000414202,NM_020829.4;RIC1,missense_variant,p.Asn511Asp,ENST00000418622,NM_001206557.1;RIC1,missense_variant,p.Asn548Asp,ENST00000251879,NM_001135920.3;RIC1,missense_variant,p.Asn440Asp,ENST00000545641,;RIC1,non_coding_transcript_exon_variant,,ENST00000276898,; G ENSG00000107036 ENST00000414202 Transcript missense_variant 1845/6786 1642/4272 548/1423 N/D Aat/Gat 1 NA 1 RIC1 HGNC HGNC:17686 protein_coding YES CCDS34982.2 ENSP00000416696 Q4ADV7.121 UPI00002110DE NM_020829.4 tolerated(0.38) benign(0) 15/26 PANTHER:PTHR22746 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA 1 . GAA . 127.6 NA NA NA NA NA NA NA NA NA 5754880 RIC1 57589 . GRCh38 chr9 5754885 5754885 + Silent SNP T T C rs1293881559 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1647T>C p.Asp549= p.D549= ENST00000414202 15/26 NA NA NA NA NA NA RIC1,synonymous_variant,p.Asp549=,ENST00000414202,NM_020829.4;RIC1,synonymous_variant,p.Asp512=,ENST00000418622,NM_001206557.1;RIC1,synonymous_variant,p.Asp549=,ENST00000251879,NM_001135920.3;RIC1,synonymous_variant,p.Asp441=,ENST00000545641,;RIC1,non_coding_transcript_exon_variant,,ENST00000276898,; C ENSG00000107036 ENST00000414202 Transcript synonymous_variant 1850/6786 1647/4272 549/1423 D gaT/gaC rs1293881559 1 NA 1 RIC1 HGNC HGNC:17686 protein_coding YES CCDS34982.2 ENSP00000416696 Q4ADV7.121 UPI00002110DE NM_020829.4 15/26 PANTHER:PTHR22746 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA 1 . ATT . 124.6 NA NA NA NA NA NA NA NA NA 5754885 RIC1 57589 . GRCh38 chr9 5754906 5754906 + Silent SNP T T C rs760733276 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1668T>C p.Tyr556= p.Y556= ENST00000414202 15/26 NA NA NA NA NA NA RIC1,synonymous_variant,p.Tyr556=,ENST00000414202,NM_020829.4;RIC1,synonymous_variant,p.Tyr519=,ENST00000418622,NM_001206557.1;RIC1,synonymous_variant,p.Tyr556=,ENST00000251879,NM_001135920.3;RIC1,synonymous_variant,p.Tyr448=,ENST00000545641,;RIC1,non_coding_transcript_exon_variant,,ENST00000276898,; C ENSG00000107036 ENST00000414202 Transcript synonymous_variant 1871/6786 1668/4272 556/1423 Y taT/taC rs760733276 1 NA 1 RIC1 HGNC HGNC:17686 protein_coding YES CCDS34982.2 ENSP00000416696 Q4ADV7.121 UPI00002110DE NM_020829.4 15/26 PANTHER:PTHR22746 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA 1 . ATA . 82.6 4.01e-06 NA NA NA 5.543e-05 NA NA NA NA 5754906 RIC1 57589 . GRCh38 chr9 5754910 5754910 + Missense_Mutation SNP A A T novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1672A>T p.Ile558Leu p.I558L ENST00000414202 15/26 NA NA NA NA NA NA RIC1,missense_variant,p.Ile558Leu,ENST00000414202,NM_020829.4;RIC1,missense_variant,p.Ile521Leu,ENST00000418622,NM_001206557.1;RIC1,missense_variant,p.Ile558Leu,ENST00000251879,NM_001135920.3;RIC1,missense_variant,p.Ile450Leu,ENST00000545641,;RIC1,non_coding_transcript_exon_variant,,ENST00000276898,; T ENSG00000107036 ENST00000414202 Transcript missense_variant 1875/6786 1672/4272 558/1423 I/L Ata/Tta 1 NA 1 RIC1 HGNC HGNC:17686 protein_coding YES CCDS34982.2 ENSP00000416696 Q4ADV7.121 UPI00002110DE NM_020829.4 tolerated(0.9) benign(0) 15/26 PANTHER:PTHR22746 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA 1 . CAT . 82.6 NA NA NA NA NA NA NA NA NA 5754910 RIC1 57589 . GRCh38 chr9 5754914 5754914 + Missense_Mutation SNP A A G rs1320402657 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1676A>G p.Asn559Ser p.N559S ENST00000414202 15/26 NA NA NA NA NA NA RIC1,missense_variant,p.Asn559Ser,ENST00000414202,NM_020829.4;RIC1,missense_variant,p.Asn522Ser,ENST00000418622,NM_001206557.1;RIC1,missense_variant,p.Asn559Ser,ENST00000251879,NM_001135920.3;RIC1,missense_variant,p.Asn451Ser,ENST00000545641,;RIC1,non_coding_transcript_exon_variant,,ENST00000276898,; G ENSG00000107036 ENST00000414202 Transcript missense_variant 1879/6786 1676/4272 559/1423 N/S aAt/aGt rs1320402657 1 NA 1 RIC1 HGNC HGNC:17686 protein_coding YES CCDS34982.2 ENSP00000416696 Q4ADV7.121 UPI00002110DE NM_020829.4 tolerated(0.92) benign(0) 15/26 PANTHER:PTHR22746 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA 1 . AAT . 82.6 NA NA NA NA NA NA NA NA NA 5754914 KIAA2026 158358 . GRCh38 chr9 5968161 5968162 + Frame_Shift_Ins INS - - T novel NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2069dup p.Lys691GlufsTer8 p.K691Efs*8 ENST00000399933 3/8 NA NA NA NA NA NA KIAA2026,frameshift_variant,p.Lys691GlufsTer8,ENST00000399933,NM_001017969.3;KIAA2026,frameshift_variant,p.Lys691GlufsTer8,ENST00000381461,;KIAA2026,downstream_gene_variant,,ENST00000513355,;KIAA2026,upstream_gene_variant,,ENST00000540714,; T ENSG00000183354 ENST00000399933 Transcript frameshift_variant 2764-2765/7669 2069-2070/6312 690/2103 K/KX aag/aaAg 1 NA -1 KIAA2026 HGNC HGNC:23378 protein_coding YES ENSP00000382815 Q5HYC2.111 UPI0001533DB0 NM_001017969.3 3/8 Coiled-coils_(Ncoils):Coil,PANTHER:PTHR31095,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 insertion 5 NA NA NA . TCT . 473.64 NA NA NA NA NA NA NA NA NA 5968161 LURAP1L 286343 . GRCh38 chr9 12775862 12775863 + In_Frame_Ins INS - - GGCGGC rs139315731 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.160_165dup p.Gly54_Gly55dup p.G54_G55dup ENST00000319264 1/2 NA NA NA NA NA NA LURAP1L,inframe_insertion,p.Gly54_Gly55dup,ENST00000319264,NM_203403.2;LURAP1L-AS1,intron_variant,,ENST00000417638,;LURAP1L,non_coding_transcript_exon_variant,,ENST00000489107,;,regulatory_region_variant,,ENSR00000233095,; GGCGGC ENSG00000153714 ENST00000319264 Transcript inframe_insertion 843-844/2683 147-148/687 49-50/228 -/GG -/GGCGGC rs139315731 1 NA 1 LURAP1L HGNC HGNC:31452 protein_coding YES CCDS6473.1 ENSP00000321026 Q8IV03.111 UPI0000140566 NM_203403.2 1/2 Low_complexity_(Seg):seg,MobiDB_lite:mobidb-lite,PANTHER:PTHR33767,PANTHER:PTHR33767:SF1 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 insertion 1 18 NA NA . GTG . 5079.1 NA NA NA NA NA NA NA NA NA 12775862 MPDZ 8777 . GRCh38 chr9 13190178 13190178 + Missense_Mutation SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2090G>A p.Gly697Asp p.G697D ENST00000546205 16/48 NA NA NA NA NA NA MPDZ,missense_variant,p.Gly697Asp,ENST00000319217,NM_001330637.2,NM_001378778.1,NM_001375413.1;MPDZ,missense_variant,p.Gly697Asp,ENST00000541718,NM_003829.5;MPDZ,missense_variant,p.Gly697Asp,ENST00000447879,NM_001375420.1,NM_001375416.1,NM_001375423.1,NM_001375418.1,NM_001375427.1,NM_001375424.1,NM_001261406.2,NM_001375417.1,NM_001375422.1,NM_001375421.1;MPDZ,missense_variant,p.Gly697Asp,ENST00000546205,;MPDZ,missense_variant,p.Gly697Asp,ENST00000536827,NM_001375425.1,NM_001375419.1,NM_001375426.1,NM_001261407.2;MPDZ,upstream_gene_variant,,ENST00000539508,; T ENSG00000107186 ENST00000546205 Transcript missense_variant 2155/6342 2090/6255 697/2084 G/D gGc/gAc 1 NA -1 MPDZ HGNC HGNC:7208 protein_coding YES ENSP00000446358 F5H1U9.75 UPI000204A742 tolerated(0.28) benign(0) 16/48 Gene3D:2.30.42.10,PANTHER:PTHR19964,PANTHER:PTHR19964:SF10,Superfamily:SSF50156 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA 1 . GCC . 3295.6 NA NA NA NA NA NA NA NA NA 13190178 TTC39B 158219 . GRCh38 chr9 15172087 15172087 + Missense_Mutation SNP G G T novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1981C>A p.Leu661Met p.L661M ENST00000512701 20/20 NA NA NA NA NA NA TTC39B,missense_variant,p.Leu661Met,ENST00000512701,NM_001168339.1,NM_152574.2;TTC39B,missense_variant,p.Leu648Met,ENST00000380850,NM_001168340.1;TTC39B,missense_variant,p.Leu592Met,ENST00000297615,NM_001168341.1;TTC39B,missense_variant,p.Leu496Met,ENST00000507285,;TTC39B,missense_variant,p.Leu496Met,ENST00000507993,NM_001168342.2;TTC39B,non_coding_transcript_exon_variant,,ENST00000380853,; T ENSG00000155158 ENST00000512701 Transcript missense_variant 2018/10483 1981/2049 661/682 L/M Ctg/Atg 1 NA -1 TTC39B HGNC HGNC:23704 protein_coding YES CCDS6477.2 ENSP00000422496 Q5VTQ0.131 UPI0001BE810F NM_001168339.1,NM_152574.2 tolerated(1) benign(0.012) 20/20 PANTHER:PTHR31859,PANTHER:PTHR31859:SF4 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 2 NA NA NA . AGG . 2041.6 NA NA NA NA NA NA NA NA NA 15172087 ADAMTSL1 92949 . GRCh38 chr9 18777327 18777342 + Frame_Shift_Del DEL GCTGGCCCGGAGAGCT GCTGGCCCGGAGAGCT - novel NA HCI-EC-23 NORMAL GCTGGCCCGGAGAGCT GCTGGCCCGGAGAGCT NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3105_3120del p.Gly1036ArgfsTer32 p.G1036Rfs*32 ENST00000380548 19/29 NA NA NA NA NA NA ADAMTSL1,frameshift_variant,p.Gly1036ArgfsTer32,ENST00000380548,NM_001040272.6;ADAMTSL1,non_coding_transcript_exon_variant,,ENST00000380559,; - ENSG00000178031 ENST00000380548 Transcript frameshift_variant 3178-3193/7771 3098-3113/5289 1033-1038/1762 GWPGEL/X gGCTGGCCCGGAGAGCTg/gg 1 NA 1 ADAMTSL1 HGNC HGNC:14632 protein_coding YES CCDS47954.1 ENSP00000369921 Q8N6G6.155 UPI000004FD83 NM_001040272.6 19/29 PANTHER:PTHR13723,PANTHER:PTHR13723:SF157 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 5 7 NA 1 . CGGCTGGCCCGGAGAGCTG . 4849.6 NA NA NA NA NA NA NA NA NA 18777326 ACER2 340485 . GRCh38 chr9 19446415 19446415 + Missense_Mutation SNP T T C novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.638T>C p.Met213Thr p.M213T ENST00000340967 5/6 NA NA NA NA NA NA ACER2,missense_variant,p.Met213Thr,ENST00000340967,NM_001010887.3;,regulatory_region_variant,,ENSR00001147234,; C ENSG00000177076 ENST00000340967 Transcript missense_variant 714/2773 638/828 213/275 M/T aTg/aCg 1 NA 1 ACER2 HGNC HGNC:23675 protein_coding YES CCDS34992.1 ENSP00000342609 Q5QJU3.112 UPI000014042D NM_001010887.3 tolerated(0.07) benign(0.001) 5/6 Pfam:PF05875,PANTHER:PTHR46139,PANTHER:PTHR46139:SF1,Transmembrane_helices:TMhelix NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . ATG . 1502.6 NA NA NA NA NA NA NA NA NA 19446415 CAAP1 79886 . GRCh38 chr9 26842438 26842438 + Missense_Mutation SNP T T C rs370391525 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.949A>G p.Lys317Glu p.K317E ENST00000333916 6/6 NA NA NA NA NA NA CAAP1,missense_variant,p.Lys317Glu,ENST00000333916,NM_024828.4;CAAP1,missense_variant,p.Lys172Glu,ENST00000625311,NM_001167575.1;CAAP1,3_prime_UTR_variant,,ENST00000520187,;CAAP1,3_prime_UTR_variant,,ENST00000650615,;CAAP1,3_prime_UTR_variant,,ENST00000483493,; C ENSG00000120159 ENST00000333916 Transcript missense_variant 1036/2789 949/1086 317/361 K/E Aaa/Gaa rs370391525 1 NA -1 CAAP1 HGNC HGNC:25834 protein_coding YES CCDS6516.1 ENSP00000369431 Q9H8G2.129 UPI000013D280 NM_024828.4 tolerated(0.24) possibly_damaging(0.895) 6/6 PANTHER:PTHR14740,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA 0.0002326 NA NA NA NA MODERATE 1 SNV 1 NA NA NA . TTG . 1743.6 5.17e-05 NA 2.891e-05 NA NA NA 9.673e-05 0.0001629 NA 26842438 ACO1 48 . GRCh38 chr9 32430432 32430432 + Silent SNP T T C novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1584T>C p.Ala528= p.A528= ENST00000309951 14/21 NA NA NA NA NA NA ACO1,synonymous_variant,p.Ala528=,ENST00000309951,NM_002197.3;ACO1,synonymous_variant,p.Ala528=,ENST00000541043,NM_001278352.1;ACO1,synonymous_variant,p.Ala528=,ENST00000379923,NM_001362840.2;,regulatory_region_variant,,ENSR00000234290,; C ENSG00000122729 ENST00000309951 Transcript synonymous_variant 1699/7443 1584/2670 528/889 A gcT/gcC 1 NA 1 ACO1 HGNC HGNC:117 protein_coding YES CCDS6525.1 ENSP00000309477 P21399.204 V9HWB7.52 UPI000012D87E NM_002197.3 14/21 PDB-ENSP_mappings:2b3x.A,PDB-ENSP_mappings:2b3y.A,PDB-ENSP_mappings:2b3y.B,CDD:cd01586,PANTHER:PTHR11670,PANTHER:PTHR11670:SF32,TIGRFAM:TIGR01341,Pfam:PF00330,Gene3D:3.30.499.10,Superfamily:SSF53732 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . CTG . 1704.6 NA NA NA NA NA NA NA NA NA 32430432 TOPORS 10210 . GRCh38 chr9 32543000 32543000 + Missense_Mutation SNP T T C rs145465262 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1525A>G p.Lys509Glu p.K509E ENST00000360538 3/3 NA NA NA NA NA NA TOPORS,missense_variant,p.Lys509Glu,ENST00000360538,NM_005802.5;TOPORS,missense_variant,p.Lys444Glu,ENST00000379858,NM_001195622.1; C ENSG00000197579 ENST00000360538 Transcript missense_variant 1675/4131 1525/3138 509/1045 K/E Aaa/Gaa rs145465262 1 NA -1 TOPORS HGNC HGNC:21653 protein_coding YES CCDS6527.1 ENSP00000353735 Q9NS56.161 UPI000006F223 NM_005802.5 tolerated(0.11) benign(0.054) 3/3 PANTHER:PTHR46077,PANTHER:PTHR46077:SF2 NA NA NA NA NA NA NA NA 0.0003488 NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . TTC . 4382.6 5.966e-05 6.152e-05 NA NA NA NA 0.0001055 0.0003263 NA 32543000 DNAJA1 3301 . GRCh38 chr9 33030480 33030480 + Silent SNP T T C novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.456T>C p.Asn152= p.N152= ENST00000330899 5/9 NA NA NA NA NA NA DNAJA1,synonymous_variant,p.Asn152=,ENST00000330899,NM_001314039.1,NM_001539.4;DNAJA1,intron_variant,,ENST00000495015,;DNAJA1,upstream_gene_variant,,ENST00000465677,; C ENSG00000086061 ENST00000330899 Transcript synonymous_variant 577/2319 456/1194 152/397 N aaT/aaC 1 NA 1 DNAJA1 HGNC HGNC:5229 protein_coding YES CCDS6533.1 ENSP00000369127 P31689.214 UPI0000129431 NM_001314039.1,NM_001539.4 5/9 CDD:cd10747,CDD:cd10719,Pfam:PF01556,Pfam:PF00684,Gene3D:2.10.230.10,Superfamily:SSF49493,Superfamily:SSF57938,PROSITE_profiles:PS51188,HAMAP:MF_01152,PANTHER:PTHR43888:SF8,PANTHER:PTHR43888 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . ATT . 35.6 NA NA NA NA NA NA NA NA NA 33030480 NFX1 4799 . GRCh38 chr9 33318963 33318963 + Missense_Mutation SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1742G>A p.Cys581Tyr p.C581Y ENST00000379540 9/24 NA NA NA NA NA NA NFX1,missense_variant,p.Cys581Tyr,ENST00000379540,NM_001318758.2,NM_002504.6;NFX1,missense_variant,p.Cys581Tyr,ENST00000318524,NM_147134.4;NFX1,non_coding_transcript_exon_variant,,ENST00000379521,;NFX1,upstream_gene_variant,,ENST00000466359,;,regulatory_region_variant,,ENSR00000234384,;,regulatory_region_variant,,ENSR00001147947,; A ENSG00000086102 ENST00000379540 Transcript missense_variant 1799/4599 1742/3363 581/1120 C/Y tGc/tAc 1 NA 1 NFX1 HGNC HGNC:7803 protein_coding YES CCDS6538.1 ENSP00000368856 Q12986.192 UPI0000072140 NM_001318758.2,NM_002504.6 deleterious(0) probably_damaging(0.997) 9/24 Pfam:PF01422,PANTHER:PTHR12360,PANTHER:PTHR12360:SF0,SMART:SM00438,CDD:cd06008,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . TGC . 3903.6 NA NA NA NA NA NA NA NA NA 33318963 PRSS3 5646 . GRCh38 chr9 33794813 33794813 + Missense_Mutation SNP G G A rs775205559 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.16G>A p.Gly6Ser p.G6S ENST00000342836 2/6 NA NA NA NA NA NA PRSS3,missense_variant,p.Gly6Ser,ENST00000342836,NM_001197097.2;PRSS3,intron_variant,,ENST00000361005,NM_007343.4;PRSS3,intron_variant,,ENST00000429677,NM_001197098.1;PRSS3,upstream_gene_variant,,ENST00000379405,NM_002771.3;UBE2R2-AS1,intron_variant,,ENST00000454429,;UBE2R2-AS1,intron_variant,,ENST00000668091,;UBE2R2-AS1,intron_variant,,ENST00000669609,;PRSS3,intron_variant,,ENST00000468152,;PRSS3,upstream_gene_variant,,ENST00000477653,;PRSS3,upstream_gene_variant,,ENST00000495682,; A ENSG00000010438 ENST00000342836 Transcript missense_variant 106/920 16/780 6/259 G/S Ggc/Agc rs775205559 1 NA 1 PRSS3 HGNC HGNC:9486 protein_coding YES ENSP00000340889 P35030.198 NM_001197097.2 tolerated_low_confidence(0.5) benign(0.047) 2/6 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . TGG . 379.6 6.692e-06 0.0001431 NA NA NA NA NA NA NA 33794813 PRSS3 5646 . GRCh38 chr9 33796746 33796746 + Silent SNP C C T rs151156335 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.180C>T p.Cys60= p.C60= ENST00000342836 3/6 NA NA NA NA NA NA PRSS3,synonymous_variant,p.Cys60=,ENST00000342836,NM_001197097.2;PRSS3,synonymous_variant,p.Cys48=,ENST00000379405,NM_002771.3;PRSS3,synonymous_variant,p.Cys41=,ENST00000429677,NM_001197098.1;PRSS3,5_prime_UTR_variant,,ENST00000361005,NM_007343.4;UBE2R2-AS1,intron_variant,,ENST00000454429,;UBE2R2-AS1,intron_variant,,ENST00000668091,;UBE2R2-AS1,intron_variant,,ENST00000669609,;PRSS3,non_coding_transcript_exon_variant,,ENST00000468152,;PRSS3,intron_variant,,ENST00000477653,;PRSS3,upstream_gene_variant,,ENST00000495682,;,regulatory_region_variant,,ENSR00001148012,; T ENSG00000010438 ENST00000342836 Transcript synonymous_variant 270/920 180/780 60/259 C tgC/tgT rs151156335 1 NA 1 PRSS3 HGNC HGNC:9486 protein_coding YES ENSP00000340889 P35030.198 NM_001197097.2 3/6 Gene3D:2.40.10.10,Pfam:PF00089,PROSITE_profiles:PS50240,PANTHER:PTHR24264,PANTHER:PTHR24264:SF48,SMART:SM00020,Superfamily:SSF50494,CDD:cd00190 4e-04 NA 0.0029 NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . GCG . 78.6 9.558e-05 NA 0.0001735 NA NA NA 0.0001323 0.0004896 NA 33796746 PRSS3 5646 . GRCh38 chr9 33796768 33796768 + Missense_Mutation SNP C C A rs1385198925 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.202C>A p.Gln68Lys p.Q68K ENST00000342836 3/6 NA NA NA NA NA NA PRSS3,missense_variant,p.Gln68Lys,ENST00000342836,NM_001197097.2;PRSS3,missense_variant,p.Gln56Lys,ENST00000379405,NM_002771.3;PRSS3,missense_variant,p.Gln49Lys,ENST00000429677,NM_001197098.1;PRSS3,5_prime_UTR_variant,,ENST00000361005,NM_007343.4;UBE2R2-AS1,intron_variant,,ENST00000454429,;UBE2R2-AS1,intron_variant,,ENST00000668091,;UBE2R2-AS1,intron_variant,,ENST00000669609,;PRSS3,non_coding_transcript_exon_variant,,ENST00000468152,;PRSS3,intron_variant,,ENST00000477653,;PRSS3,upstream_gene_variant,,ENST00000495682,;,regulatory_region_variant,,ENSR00001148012,; A ENSG00000010438 ENST00000342836 Transcript missense_variant 292/920 202/780 68/259 Q/K Cag/Aag rs1385198925 1 NA 1 PRSS3 HGNC HGNC:9486 protein_coding YES ENSP00000340889 P35030.198 NM_001197097.2 deleterious(0.03) benign(0.035) 3/6 Gene3D:2.40.10.10,Pfam:PF00089,Prints:PR00722,PROSITE_profiles:PS50240,PANTHER:PTHR24264,PANTHER:PTHR24264:SF48,SMART:SM00020,Superfamily:SSF50494,CDD:cd00190 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . ACA . 607.6 NA NA NA NA NA NA NA NA NA 33796768 PRSS3 5646 . GRCh38 chr9 33796779 33796779 + Silent SNP A A G rs368576294 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.213A>G p.Val71= p.V71= ENST00000342836 3/6 NA NA NA NA NA NA PRSS3,synonymous_variant,p.Val71=,ENST00000342836,NM_001197097.2;PRSS3,synonymous_variant,p.Val59=,ENST00000379405,NM_002771.3;PRSS3,synonymous_variant,p.Val52=,ENST00000429677,NM_001197098.1;PRSS3,5_prime_UTR_variant,,ENST00000361005,NM_007343.4;UBE2R2-AS1,intron_variant,,ENST00000454429,;UBE2R2-AS1,intron_variant,,ENST00000668091,;UBE2R2-AS1,intron_variant,,ENST00000669609,;PRSS3,non_coding_transcript_exon_variant,,ENST00000468152,;PRSS3,intron_variant,,ENST00000477653,;PRSS3,upstream_gene_variant,,ENST00000495682,;,regulatory_region_variant,,ENSR00001148012,; G ENSG00000010438 ENST00000342836 Transcript synonymous_variant 303/920 213/780 71/259 V gtA/gtG rs368576294 1 NA 1 PRSS3 HGNC HGNC:9486 protein_coding YES ENSP00000340889 P35030.198 NM_001197097.2 3/6 Gene3D:2.40.10.10,Pfam:PF00089,Prints:PR00722,PROSITE_patterns:PS00134,PROSITE_profiles:PS50240,PANTHER:PTHR24264,PANTHER:PTHR24264:SF48,SMART:SM00020,Superfamily:SSF50494,CDD:cd00190 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . TAT . 1042.6 4.092e-06 6.399e-05 NA NA NA NA NA NA NA 33796779 PRSS3 5646 . GRCh38 chr9 33796787 33796787 + Missense_Mutation SNP C C G rs199600414 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.221C>G p.Ala74Gly p.A74G ENST00000342836 3/6 NA NA NA NA NA NA PRSS3,missense_variant,p.Ala74Gly,ENST00000342836,NM_001197097.2;PRSS3,missense_variant,p.Ala62Gly,ENST00000379405,NM_002771.3;PRSS3,missense_variant,p.Ala55Gly,ENST00000429677,NM_001197098.1;PRSS3,5_prime_UTR_variant,,ENST00000361005,NM_007343.4;UBE2R2-AS1,intron_variant,,ENST00000454429,;UBE2R2-AS1,intron_variant,,ENST00000668091,;UBE2R2-AS1,intron_variant,,ENST00000669609,;PRSS3,non_coding_transcript_exon_variant,,ENST00000468152,;PRSS3,intron_variant,,ENST00000477653,;PRSS3,upstream_gene_variant,,ENST00000495682,;,regulatory_region_variant,,ENSR00001148012,; G ENSG00000010438 ENST00000342836 Transcript missense_variant 311/920 221/780 74/259 A/G gCt/gGt rs199600414 1 NA 1 PRSS3 HGNC HGNC:9486 protein_coding YES ENSP00000340889 P35030.198 NM_001197097.2 deleterious(0.04) benign(0.025) 3/6 Gene3D:2.40.10.10,Pfam:PF00089,Prints:PR00722,PROSITE_patterns:PS00134,PROSITE_profiles:PS50240,PANTHER:PTHR24264,PANTHER:PTHR24264:SF48,SMART:SM00020,Superfamily:SSF50494,CDD:cd00190 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . GCT . 702.6 4.109e-06 6.419e-05 NA NA NA NA NA NA NA 33796787 MYORG 57462 . GRCh38 chr9 34371150 34371150 + Silent SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1794G>A p.Ala598= p.A598= ENST00000297625 2/2 NA NA NA NA NA NA MYORG,synonymous_variant,p.Ala598=,ENST00000297625,NM_020702.5;MYORG,downstream_gene_variant,,ENST00000379142,;,regulatory_region_variant,,ENSR00000334933,; T ENSG00000164976 ENST00000297625 Transcript synonymous_variant 1963/6447 1794/2145 598/714 A gcG/gcA 1 NA -1 MYORG HGNC HGNC:19918 protein_coding YES CCDS78391.1 ENSP00000297625 Q6NSJ0.126 UPI0001588862 NM_020702.5 2/2 CDD:cd06592,PANTHER:PTHR43053:SF4,PANTHER:PTHR43053,Gene3D:3.20.20.80,Pfam:PF01055,Superfamily:SSF51445 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . CCG . 11220.6 NA NA NA NA NA NA NA NA NA 34371150 MYORG 57462 . GRCh38 chr9 34371530 34371530 + Missense_Mutation SNP G G A rs762124229 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1414C>T p.Arg472Trp p.R472W ENST00000297625 2/2 NA NA NA NA NA NA MYORG,missense_variant,p.Arg472Trp,ENST00000297625,NM_020702.5;MYORG,downstream_gene_variant,,ENST00000379142,; A ENSG00000164976 ENST00000297625 Transcript missense_variant 1583/6447 1414/2145 472/714 R/W Cgg/Tgg rs762124229 1 NA -1 MYORG HGNC HGNC:19918 protein_coding YES CCDS78391.1 ENSP00000297625 Q6NSJ0.126 UPI0001588862 NM_020702.5 tolerated(0.07) benign(0.001) 2/2 CDD:cd06592,PANTHER:PTHR43053:SF4,PANTHER:PTHR43053,Gene3D:3.20.20.80,Superfamily:SSF51445 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . CGC . 12218.6 4.253e-06 NA NA NA NA NA 9.357e-06 NA NA 34371530 RUSC2 9853 . GRCh38 chr9 35548535 35548535 + Missense_Mutation SNP G G T novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2014G>T p.Gly672Trp p.G672W ENST00000455600 2/12 NA NA NA NA NA NA RUSC2,missense_variant,p.Gly672Trp,ENST00000455600,NM_001135999.1;RUSC2,missense_variant,p.Gly672Trp,ENST00000361226,NM_014806.5,NM_001330740.2;RUSC2,downstream_gene_variant,,ENST00000468041,;,regulatory_region_variant,,ENSR00001148208,; T ENSG00000198853 ENST00000455600 Transcript missense_variant,splice_region_variant 2583/5636 2014/4551 672/1516 G/W Ggg/Tgg 1 NA 1 RUSC2 HGNC HGNC:23625 protein_coding YES CCDS35008.1 ENSP00000393922 Q8N2Y8.136 UPI00001C1EB0 NM_001135999.1 deleterious(0) probably_damaging(0.949) 2/12 PANTHER:PTHR15591,PANTHER:PTHR15591:SF14,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . CGG . 4271.6 NA NA NA NA NA NA NA NA NA 35548535 ARHGEF39 84904 . GRCh38 chr9 35662643 35662643 + Missense_Mutation SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.772G>A p.Ala258Thr p.A258T ENST00000378387 7/9 NA NA NA NA NA NA ARHGEF39,missense_variant,p.Ala258Thr,ENST00000378387,NM_032818.3;CCDC107,downstream_gene_variant,,ENST00000327351,NM_001195201.2;CCDC107,downstream_gene_variant,,ENST00000378406,;CCDC107,downstream_gene_variant,,ENST00000378407,NM_001195217.2;CCDC107,downstream_gene_variant,,ENST00000378409,NM_001195200.1;CCDC107,downstream_gene_variant,,ENST00000421582,;CCDC107,downstream_gene_variant,,ENST00000426546,NM_174923.3;RMRP,upstream_gene_variant,,ENST00000363046,;RMRP,upstream_gene_variant,,ENST00000602361,;ARHGEF39,non_coding_transcript_exon_variant,,ENST00000490970,;ARHGEF39,non_coding_transcript_exon_variant,,ENST00000488918,;ARHGEF39,downstream_gene_variant,,ENST00000468876,;ARHGEF39,missense_variant,p.Ala222Thr,ENST00000490638,;ARHGEF39,intron_variant,,ENST00000475323,;,regulatory_region_variant,,ENSR00000879507,; T ENSG00000137135 ENST00000378387 Transcript missense_variant 798/3678 772/1008 258/335 A/T Gcc/Acc 1 NA -1 ARHGEF39 HGNC HGNC:25909 protein_coding YES CCDS6584.2 ENSP00000367638 Q8N4T4.139 UPI000006FAA2 NM_032818.3 tolerated(0.49) benign(0.047) 7/9 PROSITE_profiles:PS50003,PANTHER:PTHR47056,Gene3D:2.30.29.30,SMART:SM00233,Superfamily:SSF50729 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . GCC . 3971.6 NA NA NA NA NA NA NA NA NA 35662643 NPR2 4882 . GRCh38 chr9 35792757 35792757 + Missense_Mutation SNP C C A novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.349C>A p.Leu117Ile p.L117I ENST00000342694 1/22 NA NA NA NA NA NA NPR2,missense_variant,p.Leu117Ile,ENST00000342694,NM_001378923.1,NM_003995.4;AL133410.1,downstream_gene_variant,,ENST00000431981,;AL133410.1,downstream_gene_variant,,ENST00000658413,;AL133410.1,downstream_gene_variant,,ENST00000658963,;AL133410.1,downstream_gene_variant,,ENST00000666249,;NPR2,non_coding_transcript_exon_variant,,ENST00000464810,;,regulatory_region_variant,,ENSR00000234684,; A ENSG00000159899 ENST00000342694 Transcript missense_variant 1167/4248 349/3144 117/1047 L/I Ctt/Att 1 NA 1 NPR2 HGNC HGNC:7944 protein_coding YES CCDS6590.1 ENSP00000341083 P20594.214 UPI0000125B42 NM_001378923.1,NM_003995.4 tolerated(1) benign(0.129) 1/22 CDD:cd06384,Pfam:PF01094,Gene3D:3.40.50.2300,Superfamily:SSF53822,PANTHER:PTHR11920,PANTHER:PTHR11920:SF479 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . CCT . 6202.6 NA NA NA NA NA NA NA NA NA 35792757 TMEM8B 51754 . GRCh38 chr9 35842666 35842666 + Silent SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1584G>A p.Leu528= p.L528= ENST00000643932 6/13 NA NA NA NA NA NA TMEM8B,synonymous_variant,p.Leu528=,ENST00000643932,NM_001042590.4,NM_001363620.1;TMEM8B,synonymous_variant,p.Leu76=,ENST00000377991,;TMEM8B,synonymous_variant,p.Leu76=,ENST00000377988,NM_001363622.1;TMEM8B,synonymous_variant,p.Leu76=,ENST00000650015,NM_001042589.2;TMEM8B,synonymous_variant,p.Leu76=,ENST00000377996,;TMEM8B,synonymous_variant,p.Leu76=,ENST00000439587,NM_016446.3,NM_001363625.1,NM_001363621.1;TMEM8B,non_coding_transcript_exon_variant,,ENST00000490199,;TMEM8B,intron_variant,,ENST00000473947,;TMEM8B,downstream_gene_variant,,ENST00000464519,; A ENSG00000137103 ENST00000643932 Transcript synonymous_variant 1804/14670 1584/2775 528/924 L ttG/ttA 1 NA 1 TMEM8B HGNC HGNC:21427 protein_coding YES ENSP00000493496 A0A2R8Y2M5.10 UPI0003EAED6C NM_001042590.4,NM_001363620.1 6/13 PANTHER:PTHR14319,PANTHER:PTHR14319:SF6 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV NA NA NA NA . TGC . 3030.6 NA NA NA NA NA NA NA NA NA 35842666 FRMPD1 22844 . GRCh38 chr9 37740874 37740874 + Frame_Shift_Del DEL C C - rs771215197 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2351del p.Pro784ArgfsTer45 p.P784Rfs*45 ENST00000539465 15/16 NA NA NA NA NA NA FRMPD1,frameshift_variant,p.Pro784ArgfsTer45,ENST00000539465,NM_001371224.1,NM_001371225.1,NM_001371223.1;FRMPD1,frameshift_variant,p.Pro784ArgfsTer45,ENST00000377765,NM_014907.3;AL138752.2,intron_variant,,ENST00000540557,; - ENSG00000070601 ENST00000539465 Transcript frameshift_variant 2939/5465 2346/4737 782/1578 G/X ggC/gg rs771215197,COSV66701542 1 NA 1 FRMPD1 HGNC HGNC:29159 protein_coding YES CCDS6612.1 ENSP00000444411 Q5SYB0.128 UPI000013D2CC NM_001371224.1,NM_001371225.1,NM_001371223.1 15/16 MobiDB_lite:mobidb-lite,PANTHER:PTHR46221,PANTHER:PTHR46221:SF2 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA HIGH 1 deletion 1 5 0,1 NA NA . GGCC . 2038.6 4.019e-06 NA NA NA 5.444e-05 NA NA NA NA 37740873 CNTNAP3 79937 . GRCh38 chr9 39088492 39088492 + Missense_Mutation SNP T T A rs1758499 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3151A>T p.Thr1051Ser p.T1051S ENST00000297668 19/24 NA NA NA NA NA NA CNTNAP3,missense_variant,p.Thr1051Ser,ENST00000297668,NM_033655.5;CNTNAP3,missense_variant,p.Thr970Ser,ENST00000377656,;CNTNAP3,missense_variant,p.Thr963Ser,ENST00000358144,;CNTNAP3,upstream_gene_variant,,ENST00000477002,;CNTNAP3,upstream_gene_variant,,ENST00000493965,; A ENSG00000106714 ENST00000297668 Transcript missense_variant 3225/5064 3151/3867 1051/1288 T/S Act/Tct rs1758499 1 NA -1 CNTNAP3 HGNC HGNC:13834 protein_coding YES CCDS6616.1 ENSP00000297668 Q9BZ76.174 UPI000013E43B NM_033655.5 tolerated(0.68) benign(0.06) 19/24 Gene3D:2.60.120.200,Pfam:PF02210,PROSITE_profiles:PS50025,PANTHER:PTHR15036,PANTHER:PTHR15036:SF36,SMART:SM00282,Superfamily:SSF49899,CDD:cd00110 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . GTT . 2344.6 NA NA NA NA NA NA NA NA NA 39088492 CNTNAP3 79937 . GRCh38 chr9 39088549 39088549 + Missense_Mutation SNP G G A rs1758500 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3094C>T p.His1032Tyr p.H1032Y ENST00000297668 19/24 NA NA NA NA NA NA CNTNAP3,missense_variant,p.His1032Tyr,ENST00000297668,NM_033655.5;CNTNAP3,missense_variant,p.His951Tyr,ENST00000377656,;CNTNAP3,missense_variant,p.His944Tyr,ENST00000358144,;CNTNAP3,upstream_gene_variant,,ENST00000477002,;CNTNAP3,upstream_gene_variant,,ENST00000493965,; A ENSG00000106714 ENST00000297668 Transcript missense_variant 3168/5064 3094/3867 1032/1288 H/Y Cac/Tac rs1758500 1 NA -1 CNTNAP3 HGNC HGNC:13834 protein_coding YES CCDS6616.1 ENSP00000297668 Q9BZ76.174 UPI000013E43B NM_033655.5 tolerated(1) benign(0.001) 19/24 Gene3D:2.60.120.200,PROSITE_profiles:PS50025,PANTHER:PTHR15036,PANTHER:PTHR15036:SF36,Superfamily:SSF49899 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . TGT . 3100.6 1.359e-05 NA 8.356e-05 NA NA NA NA NA NA 39088549 SPATA31A1 647060 . GRCh38 chr9 39358957 39358957 + Missense_Mutation SNP C C T rs10125162 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1192C>T p.Leu398Phe p.L398F ENST00000377647 4/4 NA NA NA NA NA NA SPATA31A1,missense_variant,p.Leu398Phe,ENST00000377647,NM_001085452.4;SPATA31A1,downstream_gene_variant,,ENST00000473440,;BX005214.3,downstream_gene_variant,,ENST00000615174,; T ENSG00000204849 ENST00000377647 Transcript missense_variant 1254/4259 1192/4044 398/1347 L/F Ctc/Ttc rs10125162,COSV66533763 1 NA 1 SPATA31A1 HGNC HGNC:23394 protein_coding YES ENSP00000366875 Q5TZJ5.100 UPI000021D2E0 NM_001085452.4 tolerated(0.16) benign(0.148) 4/4 Pfam:PF14650,PANTHER:PTHR21859,PANTHER:PTHR21859:SF45 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 1 NA 0,1 NA NA . GCT . 7676.03 NA NA NA NA NA NA NA NA NA 39358957 FOXD4L6 0 . GRCh38 chr9 41127137 41127137 + Missense_Mutation SNP G G C rs2989709 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1247C>G p.Pro416Arg p.P416R ENST00000622588 1/1 NA NA NA NA NA NA FOXD4L6,missense_variant,p.Pro416Arg,ENST00000622588,NM_001085476.2;CBWD6,downstream_gene_variant,,ENST00000377391,NM_001085457.1;CBWD6,downstream_gene_variant,,ENST00000456520,;CBWD6,downstream_gene_variant,,ENST00000613716,;CBWD6,downstream_gene_variant,,ENST00000457288,;CBWD6,downstream_gene_variant,,ENST00000610358,;CBWD6,downstream_gene_variant,,ENST00000613125,;CBWD6,downstream_gene_variant,,ENST00000617722,;CBWD6,downstream_gene_variant,,ENST00000622791,;CBWD6,downstream_gene_variant,,ENST00000382436,;CBWD6,downstream_gene_variant,,ENST00000486387,;CBWD6,downstream_gene_variant,,ENST00000494538,;CBWD6,downstream_gene_variant,,ENST00000611553,;CBWD6,downstream_gene_variant,,ENST00000617917,;FRG1HP,intron_variant,,ENST00000617940,; C ENSG00000273514 ENST00000622588 Transcript missense_variant 1327/2034 1247/1254 416/417 P/R cCc/cGc rs2989709 1 NA -1 FOXD4L6 HGNC HGNC:31986 protein_coding YES CCDS43826.1 ENSP00000484875 Q3SYB3.130 UPI0000519166 NM_001085476.2 tolerated_low_confidence(1) benign(0) 1/1 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE NA SNV NA NA NA NA . GGG . 457.6 NA NA NA NA NA NA NA NA NA 41127137 CNTNAP3B 79937 . GRCh38 chr9 41920251 41920251 + Silent SNP G G A rs1438494195 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2814C>T p.Asn938= p.N938= ENST00000377561 18/24 NA NA NA NA NA NA CNTNAP3B,synonymous_variant,p.Asn938=,ENST00000377561,NM_001201380.3;CNTNAP3B,intron_variant,,ENST00000612828,;CNTNAP3B,downstream_gene_variant,,ENST00000489789,;CNTNAP3B,synonymous_variant,p.Asn844=,ENST00000619138,;CNTNAP3B,non_coding_transcript_exon_variant,,ENST00000618777,;CNTNAP3B,downstream_gene_variant,,ENST00000479351,; A ENSG00000154529 ENST00000377561 Transcript synonymous_variant 3146/7652 2814/3867 938/1288 N aaC/aaT rs1438494195 1 NA -1 CNTNAP3B HGNC HGNC:32035 protein_coding YES CCDS75836.1 ENSP00000478671 Q96NU0.144 UPI00043788D3 NM_001201380.3 18/24 PROSITE_profiles:PS50025,CDD:cd00110,PANTHER:PTHR15036,PANTHER:PTHR15036:SF36,Gene3D:2.60.120.200,Pfam:PF02210,SMART:SM00282,Superfamily:SSF49899 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . CGT . 2274.6 NA NA NA NA NA NA NA NA NA 41920251 CNTNAP3B 79937 . GRCh38 chr9 41922714 41922714 + Silent SNP C C T rs1169001619 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2718G>A p.Gly906= p.G906= ENST00000377561 17/24 NA NA NA NA NA NA CNTNAP3B,synonymous_variant,p.Gly906=,ENST00000377561,NM_001201380.3;CNTNAP3B,synonymous_variant,p.Gly905=,ENST00000612828,;CNTNAP3B,downstream_gene_variant,,ENST00000489789,;CNTNAP3B,synonymous_variant,p.Gly812=,ENST00000619138,;CNTNAP3B,non_coding_transcript_exon_variant,,ENST00000618777,;CNTNAP3B,downstream_gene_variant,,ENST00000479351,; T ENSG00000154529 ENST00000377561 Transcript synonymous_variant 3050/7652 2718/3867 906/1288 G ggG/ggA rs1169001619 1 NA -1 CNTNAP3B HGNC HGNC:32035 protein_coding YES CCDS75836.1 ENSP00000478671 Q96NU0.144 UPI00043788D3 NM_001201380.3 17/24 PROSITE_profiles:PS50025,CDD:cd00110,PANTHER:PTHR15036,PANTHER:PTHR15036:SF36,Gene3D:2.60.120.200,Pfam:PF02210,SMART:SM00282,Superfamily:SSF49899 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . GCC . 409.6 8.723e-05 NA NA NA 0.0001395 NA 4.721e-05 0.0005501 0.0003542 41922714 CNTNAP3B 79937 . GRCh38 chr9 41938378 41938378 + Missense_Mutation SNP C C A rs1469302458 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2103G>T p.Trp701Cys p.W701C ENST00000377561 14/24 NA NA NA NA NA NA CNTNAP3B,missense_variant,p.Trp701Cys,ENST00000377561,NM_001201380.3;CNTNAP3B,missense_variant,p.Trp700Cys,ENST00000612828,;CNTNAP3B,missense_variant,p.Trp700Cys,ENST00000341990,;CNTNAP3B,missense_variant,p.Trp607Cys,ENST00000617422,;CNTNAP3B,intron_variant,,ENST00000489789,;CNTNAP3B,missense_variant,p.Trp607Cys,ENST00000619138,;CNTNAP3B,non_coding_transcript_exon_variant,,ENST00000618777,;CNTNAP3B,intron_variant,,ENST00000479351,;,regulatory_region_variant,,ENSR00000880646,; A ENSG00000154529 ENST00000377561 Transcript missense_variant 2435/7652 2103/3867 701/1288 W/C tgG/tgT rs1469302458 1 NA -1 CNTNAP3B HGNC HGNC:32035 protein_coding YES CCDS75836.1 ENSP00000478671 Q96NU0.144 UPI00043788D3 NM_001201380.3 deleterious(0.01) probably_damaging(0.99) 14/24 PANTHER:PTHR15036,PANTHER:PTHR15036:SF36,Gene3D:2.60.120.1000 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CCC . 87.6 NA NA NA NA NA NA NA NA NA 41938378 SPATA31A5 0 . GRCh38 chr9 60917494 60917494 + Silent SNP T T C rs1402089905 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1038T>C p.Asn346= p.N346= ENST00000437823 4/4 NA NA NA NA NA NA SPATA31A5,synonymous_variant,p.Asn346=,ENST00000437823,NM_001113541.3;AL590491.1,downstream_gene_variant,,ENST00000611916,; C ENSG00000276581 ENST00000437823 Transcript synonymous_variant 1067/4226 1038/4044 346/1347 N aaT/aaC rs1402089905 1 NA 1 SPATA31A5 HGNC HGNC:32005 protein_coding YES CCDS47970.1 ENSP00000485628 Q5VU36.95 UPI0000457749 NM_001113541.3 4/4 PANTHER:PTHR21859:SF45,PANTHER:PTHR21859 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . ATG . 159.93 NA NA NA NA NA NA NA NA NA 60917494 FOXD4L5 653427 . GRCh38 chr9 65283245 65283245 + Missense_Mutation SNP A A G rs3000494 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1133T>C p.Leu378Pro p.L378P ENST00000377420 1/1 NA NA NA NA NA NA FOXD4L5,missense_variant,p.Leu378Pro,ENST00000377420,NM_001126334.1;CBWD4P,downstream_gene_variant,,ENST00000445695,; G ENSG00000204779 ENST00000377420 Transcript missense_variant 1965/3109 1133/1251 378/416 L/P cTg/cCg rs3000494,COSV66240377 1 NA -1 FOXD4L5 HGNC HGNC:18522 protein_coding YES CCDS47977.1 ENSP00000366637 Q5VV16.131 UPI0000458A33 NM_001126334.1 tolerated_low_confidence(0.15) benign(0) 1/1 PANTHER:PTHR11829,PANTHER:PTHR11829:SF350,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV NA NA 0,1 NA NA . CAG . 91.6 NA NA NA NA NA NA NA NA NA 65283245 CBWD5 728013 . GRCh38 chr9 65690975 65690975 + Missense_Mutation SNP A A G rs1411096827 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.439A>G p.Thr147Ala p.T147A ENST00000382405 5/15 NA NA NA NA NA NA CBWD5,missense_variant,p.Thr147Ala,ENST00000382405,NM_001330668.1;CBWD5,missense_variant,p.Thr147Ala,ENST00000430059,NM_001363751.1;CBWD5,missense_variant,p.Thr147Ala,ENST00000377395,NM_001024916.3;CBWD5,5_prime_UTR_variant,,ENST00000377392,NM_001286835.1;CBWD5,intron_variant,,ENST00000429800,;CBWD5,non_coding_transcript_exon_variant,,ENST00000476797,;CBWD5,non_coding_transcript_exon_variant,,ENST00000496364,;CBWD5,intron_variant,,ENST00000472916,;CBWD5,missense_variant,p.Thr147Ala,ENST00000476161,;CBWD5,missense_variant,p.Thr147Ala,ENST00000486221,;CBWD5,missense_variant,p.Thr147Ala,ENST00000497250,;CBWD5,3_prime_UTR_variant,,ENST00000377389,;CBWD5,3_prime_UTR_variant,,ENST00000465474,;CBWD5,3_prime_UTR_variant,,ENST00000469921,;CBWD5,non_coding_transcript_exon_variant,,ENST00000468198,;CBWD5,non_coding_transcript_exon_variant,,ENST00000382404,;CBWD5,intron_variant,,ENST00000480229,;CBWD5,upstream_gene_variant,,ENST00000471620,;CBWD5,upstream_gene_variant,,ENST00000495615,; G ENSG00000147996 ENST00000382405 Transcript missense_variant 617/1791 439/1188 147/395 T/A Act/Gct rs1411096827 1 NA 1 CBWD5 HGNC HGNC:24584 protein_coding YES CCDS83367.1 ENSP00000371842 Q5RIA9.125 UPI0000197BD8 NM_001330668.1 tolerated(1) benign(0) 5/15 CDD:cd03112,PANTHER:PTHR13748:SF31,PANTHER:PTHR13748,Pfam:PF02492,Gene3D:3.40.50.300,Superfamily:SSF52540 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . GAC . 37.6 NA NA NA NA NA NA NA NA NA 65690975 FOXD4L4 349334 . GRCh38 chr9 65737152 65737152 + Missense_Mutation SNP C C A rs1212108435 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.7C>A p.Leu3Met p.L3M ENST00000377413 1/1 NA NA NA NA NA NA FOXD4L4,missense_variant,p.Leu3Met,ENST00000377413,NM_199244.3;CBWD5,downstream_gene_variant,,ENST00000377392,NM_001286835.1;CBWD5,downstream_gene_variant,,ENST00000377395,NM_001024916.3;CBWD5,downstream_gene_variant,,ENST00000382405,NM_001330668.1;CBWD5,downstream_gene_variant,,ENST00000429800,;CBWD5,downstream_gene_variant,,ENST00000430059,NM_001363751.1;CBWD5,downstream_gene_variant,,ENST00000489273,;CBWD5,downstream_gene_variant,,ENST00000468066,;CBWD5,downstream_gene_variant,,ENST00000476797,;CBWD5,downstream_gene_variant,,ENST00000486191,;CBWD5,downstream_gene_variant,,ENST00000377389,;CBWD5,downstream_gene_variant,,ENST00000461932,;CBWD5,downstream_gene_variant,,ENST00000463075,;CBWD5,downstream_gene_variant,,ENST00000465474,;CBWD5,downstream_gene_variant,,ENST00000476161,;CBWD5,downstream_gene_variant,,ENST00000480229,;CBWD5,downstream_gene_variant,,ENST00000480819,;CBWD5,downstream_gene_variant,,ENST00000485088,;CBWD5,downstream_gene_variant,,ENST00000486221,;CBWD5,downstream_gene_variant,,ENST00000491485,;CBWD5,downstream_gene_variant,,ENST00000497250,; A ENSG00000184659 ENST00000377413 Transcript missense_variant 598/2230 7/1251 3/416 L/M Ctg/Atg rs1212108435 1 NA 1 FOXD4L4 HGNC HGNC:23762 protein_coding YES CCDS75845.1 ENSP00000366630 Q8WXT5.150 UPI0000246F14 NM_199244.3 deleterious_low_confidence(0.03) benign(0.276) 1/1 MobiDB_lite:mobidb-lite,PANTHER:PTHR11829,PANTHER:PTHR11829:SF350 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE NA SNV NA NA NA NA . CCT . 1664.6 NA NA NA NA NA NA NA NA NA 65737152 FOXD4L4 349334 . GRCh38 chr9 65737280 65737280 + Silent SNP G G A rs1181195798 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.135G>A p.Glu45= p.E45= ENST00000377413 1/1 NA NA NA NA NA NA FOXD4L4,synonymous_variant,p.Glu45=,ENST00000377413,NM_199244.3;CBWD5,downstream_gene_variant,,ENST00000377392,NM_001286835.1;CBWD5,downstream_gene_variant,,ENST00000377395,NM_001024916.3;CBWD5,downstream_gene_variant,,ENST00000382405,NM_001330668.1;CBWD5,downstream_gene_variant,,ENST00000429800,;CBWD5,downstream_gene_variant,,ENST00000430059,NM_001363751.1;CBWD5,downstream_gene_variant,,ENST00000489273,;CBWD5,downstream_gene_variant,,ENST00000468066,;CBWD5,downstream_gene_variant,,ENST00000476797,;CBWD5,downstream_gene_variant,,ENST00000486191,;CBWD5,downstream_gene_variant,,ENST00000377389,;CBWD5,downstream_gene_variant,,ENST00000461932,;CBWD5,downstream_gene_variant,,ENST00000463075,;CBWD5,downstream_gene_variant,,ENST00000476161,;CBWD5,downstream_gene_variant,,ENST00000480229,;CBWD5,downstream_gene_variant,,ENST00000480819,;CBWD5,downstream_gene_variant,,ENST00000485088,;CBWD5,downstream_gene_variant,,ENST00000486221,;CBWD5,downstream_gene_variant,,ENST00000491485,;CBWD5,downstream_gene_variant,,ENST00000497250,; A ENSG00000184659 ENST00000377413 Transcript synonymous_variant 726/2230 135/1251 45/416 E gaG/gaA rs1181195798,COSV66219586 1 NA 1 FOXD4L4 HGNC HGNC:23762 protein_coding YES CCDS75845.1 ENSP00000366630 Q8WXT5.150 UPI0000246F14 NM_199244.3 1/1 Low_complexity_(Seg):seg,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite,Coiled-coils_(Ncoils):Coil,PANTHER:PTHR11829,PANTHER:PTHR11829:SF350 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA LOW NA SNV NA NA 0,1 NA NA . AGG . 435.6 NA NA NA NA NA NA NA NA NA 65737280 FOXD4L4 349334 . GRCh38 chr9 65737394 65737394 + Silent SNP T T C rs796602695 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.249T>C p.Pro83= p.P83= ENST00000377413 1/1 NA NA NA NA NA NA FOXD4L4,synonymous_variant,p.Pro83=,ENST00000377413,NM_199244.3;CBWD5,downstream_gene_variant,,ENST00000377392,NM_001286835.1;CBWD5,downstream_gene_variant,,ENST00000377395,NM_001024916.3;CBWD5,downstream_gene_variant,,ENST00000382405,NM_001330668.1;CBWD5,downstream_gene_variant,,ENST00000429800,;CBWD5,downstream_gene_variant,,ENST00000430059,NM_001363751.1;CBWD5,downstream_gene_variant,,ENST00000489273,;CBWD5,downstream_gene_variant,,ENST00000468066,;CBWD5,downstream_gene_variant,,ENST00000476797,;CBWD5,downstream_gene_variant,,ENST00000486191,;CBWD5,downstream_gene_variant,,ENST00000377389,;CBWD5,downstream_gene_variant,,ENST00000461932,;CBWD5,downstream_gene_variant,,ENST00000463075,;CBWD5,downstream_gene_variant,,ENST00000480229,;CBWD5,downstream_gene_variant,,ENST00000480819,;CBWD5,downstream_gene_variant,,ENST00000485088,;CBWD5,downstream_gene_variant,,ENST00000486221,;CBWD5,downstream_gene_variant,,ENST00000491485,;CBWD5,downstream_gene_variant,,ENST00000497250,; C ENSG00000184659 ENST00000377413 Transcript synonymous_variant 840/2230 249/1251 83/416 P ccT/ccC rs796602695 1 NA 1 FOXD4L4 HGNC HGNC:23762 protein_coding YES CCDS75845.1 ENSP00000366630 Q8WXT5.150 UPI0000246F14 NM_199244.3 1/1 PANTHER:PTHR11829,PANTHER:PTHR11829:SF350 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW NA SNV NA NA NA NA . CTT . 183.6 NA NA NA NA NA NA NA NA NA 65737394 FOXD4L4 349334 . GRCh38 chr9 65737984 65737984 + Missense_Mutation SNP G G C rs10796795 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.839G>C p.Gly280Ala p.G280A ENST00000377413 1/1 NA NA NA NA NA NA FOXD4L4,missense_variant,p.Gly280Ala,ENST00000377413,NM_199244.3;CBWD5,downstream_gene_variant,,ENST00000377392,NM_001286835.1;CBWD5,downstream_gene_variant,,ENST00000377395,NM_001024916.3;CBWD5,downstream_gene_variant,,ENST00000382405,NM_001330668.1;CBWD5,downstream_gene_variant,,ENST00000429800,;CBWD5,downstream_gene_variant,,ENST00000430059,NM_001363751.1;CBWD5,downstream_gene_variant,,ENST00000489273,;CBWD5,downstream_gene_variant,,ENST00000468066,;CBWD5,downstream_gene_variant,,ENST00000476797,;CBWD5,downstream_gene_variant,,ENST00000486191,;CBWD5,downstream_gene_variant,,ENST00000377389,;CBWD5,downstream_gene_variant,,ENST00000461932,;CBWD5,downstream_gene_variant,,ENST00000463075,;CBWD5,downstream_gene_variant,,ENST00000480229,;CBWD5,downstream_gene_variant,,ENST00000480819,;CBWD5,downstream_gene_variant,,ENST00000485088,;CBWD5,downstream_gene_variant,,ENST00000486221,;CBWD5,downstream_gene_variant,,ENST00000491485,;CBWD5,downstream_gene_variant,,ENST00000497250,; C ENSG00000184659 ENST00000377413 Transcript missense_variant 1430/2230 839/1251 280/416 G/A gGg/gCg rs10796795 1 NA 1 FOXD4L4 HGNC HGNC:23762 protein_coding YES CCDS75845.1 ENSP00000366630 Q8WXT5.150 UPI0000246F14 NM_199244.3 tolerated_low_confidence(0.08) benign(0) 1/1 PANTHER:PTHR11829,PANTHER:PTHR11829:SF350 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE NA SNV NA NA NA NA . GGG . 5484.03 NA NA NA NA NA NA NA NA NA 65737984 SPATA31A3 0 . GRCh38 chr9 66989561 66989561 + Missense_Mutation SNP C C G rs62565521 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.937G>C p.Glu313Gln p.E313Q ENST00000428649 4/4 NA NA NA NA NA NA SPATA31A3,missense_variant,p.Glu313Gln,ENST00000428649,NM_001083124.1;AL353770.3,downstream_gene_variant,,ENST00000616253,; G ENSG00000275969 ENST00000428649 Transcript missense_variant 999/4256 937/4044 313/1347 E/Q Gaa/Caa rs62565521 1 NA -1 SPATA31A3 HGNC HGNC:32003 protein_coding YES CCDS78400.1 ENSP00000485118 Q5VYP0.104 UPI00004588FC NM_001083124.1 deleterious(0.04) possibly_damaging(0.624) 4/4 PANTHER:PTHR21859,PANTHER:PTHR21859:SF45 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . TCC . 2997.03 NA NA NA NA NA NA NA NA NA 66989561 ANKRD20A1 0 . GRCh38 chr9 67901310 67901310 + Missense_Mutation SNP G G A rs200586073 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2315G>A p.Gly772Glu p.G772E ENST00000642071 15/21 NA NA NA NA NA NA ANKRD20A1,missense_variant,p.Gly772Glu,ENST00000642071,;ANKRD20A1,missense_variant,p.Gly772Glu,ENST00000562196,NM_032250.5;ANKRD20A1,downstream_gene_variant,,ENST00000652170,;ANKRD20A1,downstream_gene_variant,,ENST00000616155,;ANKRD20A1,downstream_gene_variant,,ENST00000622129,; A ENSG00000260691 ENST00000642071 Transcript missense_variant 2595/3761 2315/3481 772/1160 G/E gGa/gAa rs200586073 1 NA 1 ANKRD20A1 HGNC HGNC:23665 protein_coding YES ENSP00000498889 A0A494C151.7 UPI00108FF287 tolerated(1) benign(0.026) 15/21 Pfam:PF14915,PANTHER:PTHR24147,PANTHER:PTHR24147:SF1 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV NA NA NA NA . GGA . 67.61 NA NA NA NA NA NA NA NA NA 67901310 PGM5 5239 . GRCh38 chr9 68391660 68391660 + Missense_Mutation SNP C C T rs2482223 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.824C>T p.Thr275Met p.T275M ENST00000396396 5/11 NA NA NA NA NA NA PGM5,missense_variant,p.Thr275Met,ENST00000396396,NM_021965.4;PGM5,missense_variant,p.Thr275Met,ENST00000396392,;PGM5,missense_variant,p.Thr192Met,ENST00000431583,;AL161457.2,downstream_gene_variant,,ENST00000590767,;AL161457.2,downstream_gene_variant,,ENST00000629161,;AL161457.2,downstream_gene_variant,,ENST00000629181,;PGM5,non_coding_transcript_exon_variant,,ENST00000604870,;PGM5,upstream_gene_variant,,ENST00000587852,; T ENSG00000154330 ENST00000396396 Transcript missense_variant 1341/3626 824/1704 275/567 T/M aCg/aTg rs2482223 1 NA 1 PGM5 HGNC HGNC:8908 protein_coding YES CCDS6622.2 ENSP00000379678 Q15124.165 UPI0000210ABF NM_021965.4 deleterious(0.05) probably_damaging(0.953) 5/11 Gene3D:3.40.120.10,Pfam:PF02879,PANTHER:PTHR22573,PANTHER:PTHR22573:SF27,Superfamily:SSF53738 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 2 NA NA NA . ACG . 158.6 NA NA NA NA NA NA NA NA NA 68391660 TJP2 9414 . GRCh38 chr9 69221037 69221037 + Frame_Shift_Del DEL G G - novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.675del p.Arg226AlafsTer144 p.R226Afs*144 ENST00000636438 6/24 NA NA NA NA NA NA TJP2,frameshift_variant,p.Arg167AlafsTer144,ENST00000649943,;TJP2,frameshift_variant,p.Arg167AlafsTer144,ENST00000649114,;AL358113.1,frameshift_variant,p.Arg296AlafsTer144,ENST00000642889,;TJP2,frameshift_variant,p.Arg226AlafsTer144,ENST00000636438,;TJP2,frameshift_variant,p.Arg167AlafsTer144,ENST00000377245,NM_001369870.1,NM_001369871.1,NM_004817.4,NM_001369872.1,NM_001369873.1;TJP2,frameshift_variant,p.Arg168AlafsTer144,ENST00000650084,NM_001369875.1;TJP2,frameshift_variant,p.Arg167AlafsTer144,ENST00000348208,NM_001170414.2,NM_201629.3;TJP2,frameshift_variant,p.Arg171AlafsTer144,ENST00000535702,NM_001170415.1;TJP2,frameshift_variant,p.Arg171AlafsTer144,ENST00000649134,NM_001369874.1;TJP2,frameshift_variant,p.Arg198AlafsTer144,ENST00000539225,NM_001170416.2;TJP2,frameshift_variant,p.Arg144AlafsTer144,ENST00000650333,;TJP2,frameshift_variant,p.Arg144AlafsTer144,ENST00000647986,;TJP2,frameshift_variant,p.Arg144AlafsTer?,ENST00000423935,;TJP2,frameshift_variant,p.Arg144AlafsTer?,ENST00000649939,;TJP2,downstream_gene_variant,,ENST00000606364,;TJP2,downstream_gene_variant,,ENST00000648402,;TJP2,non_coding_transcript_exon_variant,,ENST00000649783,;TJP2,non_coding_transcript_exon_variant,,ENST00000650522,;TJP2,non_coding_transcript_exon_variant,,ENST00000650378,;TJP2,upstream_gene_variant,,ENST00000648153,;AL358113.1,3_prime_UTR_variant,,ENST00000645088,;AL358113.1,3_prime_UTR_variant,,ENST00000643352,;TJP2,non_coding_transcript_exon_variant,,ENST00000648087,;TJP2,non_coding_transcript_exon_variant,,ENST00000636247,;TJP2,downstream_gene_variant,,ENST00000377259,;AL358113.1,downstream_gene_variant,,ENST00000643765,;TJP2,upstream_gene_variant,,ENST00000648862,;TJP2,upstream_gene_variant,,ENST00000650460,; - ENSG00000119139 ENST00000636438 Transcript frameshift_variant 784/4689 670/3750 224/1249 G/X Ggg/gg 1 NA 1 TJP2 HGNC HGNC:11828 protein_coding YES ENSP00000489860 A0A1B0GTW1.30 UPI000387DEE2 6/24 MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite,PANTHER:PTHR13865,PANTHER:PTHR13865:SF26 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 5 5 NA 1 . ATGG . 3252.6 NA NA NA NA NA NA NA NA NA 69221036 SMC5 23137 . GRCh38 chr9 70344224 70344224 + Silent SNP A A G rs1360547048 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2478A>G p.Val826= p.V826= ENST00000361138 18/25 NA NA NA NA NA NA SMC5,synonymous_variant,p.Val826=,ENST00000361138,NM_015110.4;SMC5,non_coding_transcript_exon_variant,,ENST00000475540,;SMC5,upstream_gene_variant,,ENST00000471372,; G ENSG00000198887 ENST00000361138 Transcript synonymous_variant 2579/5949 2478/3306 826/1101 V gtA/gtG rs1360547048 1 NA 1 SMC5 HGNC HGNC:20465 protein_coding YES CCDS6632.1 ENSP00000354957 Q8IY18.140 UPI000036763A NM_015110.4 18/25 Pfam:PF02463,PANTHER:PTHR45916,Superfamily:SSF52540 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . TAT . 919.6 4.487e-06 NA NA NA NA NA NA NA 3.87e-05 70344224 TRPM6 140803 . GRCh38 chr9 74762602 74762602 + Frame_Shift_Del DEL A A - novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4069del p.Ser1357GlnfsTer31 p.S1357Qfs*31 ENST00000360774 26/39 NA NA NA NA NA NA TRPM6,frameshift_variant,p.Ser1352GlnfsTer31,ENST00000361255,NM_001177311.1;TRPM6,frameshift_variant,p.Ser1357GlnfsTer31,ENST00000360774,NM_017662.5;TRPM6,frameshift_variant,p.Ser1352GlnfsTer31,ENST00000449912,NM_001177310.1; - ENSG00000119121 ENST00000360774 Transcript frameshift_variant 4134/8252 4069/6069 1357/2022 S/X Tca/ca 1 NA -1 TRPM6 HGNC HGNC:17995 protein_coding YES CCDS6647.1 ENSP00000354006 Q9BX84.156 UPI000006E041 NM_017662.5 26/39 PANTHER:PTHR13800:SF15,PANTHER:PTHR13800 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 NA NA 1 . TGAA . 27546.6 NA NA NA NA NA NA NA NA NA 74762601 PRUNE2 158471 . GRCh38 chr9 76709219 76709220 + In_Frame_Ins INS - - TGACTGTTGCAG rs2307907 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3043_3054dup p.Leu1015_Ser1018dup p.L1015_S1018dup ENST00000376718 8/19 NA NA NA NA NA NA PRUNE2,inframe_insertion,p.Leu1015_Ser1018dup,ENST00000376718,NM_015225.3;PRUNE2,inframe_insertion,p.Leu656_Ser659dup,ENST00000428286,;PRUNE2,inframe_insertion,p.Leu1015_Ser1018dup,ENST00000443509,NM_001308047.1,NM_001308048.1;PRUNE2,inframe_insertion,p.Leu337_Ser340dup,ENST00000426088,;PCA3,intron_variant,,ENST00000642542,;PCA3,intron_variant,,ENST00000643823,;PCA3,intron_variant,,ENST00000644302,;PCA3,intron_variant,,ENST00000644657,;PCA3,intron_variant,,ENST00000645196,;PCA3,intron_variant,,ENST00000645704,;PCA3,intron_variant,,ENST00000645839,;PCA3,intron_variant,,ENST00000645887,;PCA3,intron_variant,,ENST00000646854,;PCA3,intron_variant,,ENST00000646947,;PCA3,intron_variant,,ENST00000647325,; TGACTGTTGCAG ENSG00000106772 ENST00000376718 Transcript inframe_insertion 3205-3206/12612 3054-3055/9267 1018-1019/3088 -/LQQS -/CTGCAACAGTCA rs2307907 1 NA -1 PRUNE2 HGNC HGNC:25209 protein_coding YES CCDS47982.1 ENSP00000365908 Q8WUY3.136 UPI0001612CC0 NM_015225.3 8/19 PANTHER:PTHR12112,PANTHER:PTHR12112:SF45,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite NA 0.3427 0.6441 NA 0.4504 0.5984 0.5767 0.382 0.5883 NA NA NA NA MODERATE 1 insertion 5 NA NA NA . GAT . 13466.06 NA NA NA NA NA NA NA NA NA 76709219 FOXB2 442425 . GRCh38 chr9 77020011 77020011 + Silent SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.357G>A p.Leu119= p.L119= ENST00000376708 1/1 NA NA NA NA NA NA FOXB2,synonymous_variant,p.Leu119=,ENST00000376708,NM_001013735.1;,regulatory_region_variant,,ENSR00000883394,; A ENSG00000204612 ENST00000376708 Transcript synonymous_variant 357/1299 357/1299 119/432 L ttG/ttA 1 NA 1 FOXB2 HGNC HGNC:23315 protein_coding YES CCDS35045.1 ENSP00000365898 Q5VYV0.125 UPI00004588EE NM_001013735.1 1/1 MobiDB_lite:mobidb-lite,PANTHER:PTHR11829,PANTHER:PTHR11829:SF215 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV NA NA NA NA . TGC . 4075.6 NA NA NA NA NA NA NA NA NA 77020011 VPS13A 23230 . GRCh38 chr9 77369392 77369392 + Frame_Shift_Del DEL T T - novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.8653del p.Tyr2885MetfsTer20 p.Y2885Mfs*20 ENST00000360280 63/72 NA NA NA NA NA NA VPS13A,frameshift_variant,p.Tyr2885MetfsTer20,ENST00000360280,NM_033305.3;VPS13A,frameshift_variant,p.Tyr2846MetfsTer20,ENST00000376636,NM_001018037.2;VPS13A,frameshift_variant,p.Tyr2885MetfsTer20,ENST00000645632,NM_001018038.2;VPS13A,frameshift_variant,p.Tyr2885MetfsTer20,ENST00000643348,NM_015186.3; - ENSG00000197969 ENST00000360280 Transcript frameshift_variant 8818/15227 8647/9525 2883/3174 F/X Ttt/tt 1 NA 1 VPS13A HGNC HGNC:1908 protein_coding YES CCDS6655.1 ENSP00000353422 Q96RL7.163 UPI0000210B7A NM_033305.3 63/72 Pfam:PF16909,PANTHER:PTHR16166,PANTHER:PTHR16166:SF22 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 6 NA 1 . CATT . 2084.6 NA NA NA NA NA NA NA NA NA 77369391 TLE1 7088 . GRCh38 chr9 81585629 81585629 + Silent SNP G G A rs2229270 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2004C>T p.Thr668= p.T668= ENST00000376499 18/20 NA NA NA NA NA NA TLE1,synonymous_variant,p.Thr668=,ENST00000376499,NM_005077.5,NM_001303104.1,NM_001303103.1; A ENSG00000196781 ENST00000376499 Transcript synonymous_variant 3311/4135 2004/2313 668/770 T acC/acT rs2229270 1 NA -1 TLE1 HGNC HGNC:11837 protein_coding YES CCDS6661.1 ENSP00000365682 Q04724.206 UPI0000137034 NM_005077.5,NM_001303104.1,NM_001303103.1 18/20 PDB-ENSP_mappings:1gxr.A,PDB-ENSP_mappings:1gxr.B,PDB-ENSP_mappings:2ce8.A,PDB-ENSP_mappings:2ce8.B,PDB-ENSP_mappings:2ce8.C,PDB-ENSP_mappings:2ce8.D,PDB-ENSP_mappings:2ce9.A,PDB-ENSP_mappings:2ce9.B,PDB-ENSP_mappings:2ce9.C,PDB-ENSP_mappings:2ce9.D,PDB-ENSP_mappings:5mwj.A,PDB-ENSP_mappings:5mwj.B,CDD:cd00200,Gene3D:2.130.10.10,SMART:SM00320,Superfamily:SSF50978,PANTHER:PTHR10814,PANTHER:PTHR10814:SF29 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . CGG . 1631.6 3.186e-05 NA NA NA 5.437e-05 NA 5.287e-05 NA 3.267e-05 81585629 TLE1 7088 . GRCh38 chr9 81587768 81587776 + In_Frame_Del DEL CTTGGTGCC CTTGGTGCC - novel NA HCI-EC-23 NORMAL CTTGGTGCC CTTGGTGCC NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1882_1890del p.Gly628_Lys630del p.G628_K630del ENST00000376499 17/20 NA NA NA NA NA NA TLE1,inframe_deletion,p.Gly628_Lys630del,ENST00000376499,NM_005077.5,NM_001303104.1,NM_001303103.1;,regulatory_region_variant,,ENSR00001150420,;,TF_binding_site_variant,,ENSM00051950714,;,TF_binding_site_variant,,ENSM00521911267,;,TF_binding_site_variant,,ENSM00525282378,; - ENSG00000196781 ENST00000376499 Transcript inframe_deletion 3189-3197/4135 1882-1890/2313 628-630/770 GTK/- GGCACCAAG/- 1 NA -1 TLE1 HGNC HGNC:11837 protein_coding YES CCDS6661.1 ENSP00000365682 Q04724.206 UPI0000137034 NM_005077.5,NM_001303104.1,NM_001303103.1 17/20 PDB-ENSP_mappings:1gxr.A,PDB-ENSP_mappings:1gxr.B,PDB-ENSP_mappings:2ce8.A,PDB-ENSP_mappings:2ce8.B,PDB-ENSP_mappings:2ce8.C,PDB-ENSP_mappings:2ce8.D,PDB-ENSP_mappings:2ce9.A,PDB-ENSP_mappings:2ce9.B,PDB-ENSP_mappings:2ce9.C,PDB-ENSP_mappings:2ce9.D,PDB-ENSP_mappings:5mwj.A,PDB-ENSP_mappings:5mwj.B,CDD:cd00200,Pfam:PF00400,Gene3D:2.130.10.10,SMART:SM00320,Superfamily:SSF50978,PROSITE_profiles:PS50294,PROSITE_profiles:PS50082,PANTHER:PTHR10814,PANTHER:PTHR10814:SF29 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 deletion 1 NA NA NA . AGCTTGGTGCCA . 3386.6 NA NA NA NA NA NA NA NA NA 81587767 TLE1 7088 . GRCh38 chr9 81587778 81587804 + In_Frame_Del DEL TCATTAGAAATGTCAATACAGCTGGCT TCATTAGAAATGTCAATACAGCTGGCT - novel NA HCI-EC-23 NORMAL TCATTAGAAATGTCAATACAGCTGGCT TCATTAGAAATGTCAATACAGCTGGCT NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1854_1880del p.Ala619_Asp627del p.A619_D627del ENST00000376499 17/20 NA NA NA NA NA NA TLE1,inframe_deletion,p.Ala619_Asp627del,ENST00000376499,NM_005077.5,NM_001303104.1,NM_001303103.1;,regulatory_region_variant,,ENSR00001150420,;,TF_binding_site_variant,,ENSM00051950714,;,TF_binding_site_variant,,ENSM00055777751,;,TF_binding_site_variant,,ENSM00521911267,;,TF_binding_site_variant,,ENSM00525282378,;,TFBS_ablation,,ENSM00525443177,; - ENSG00000196781 ENST00000376499 Transcript inframe_deletion 3161-3187/4135 1854-1880/2313 618-627/770 GASCIDISND/G ggAGCCAGCTGTATTGACATTTCTAATGAt/ggt 1 NA -1 TLE1 HGNC HGNC:11837 protein_coding YES CCDS6661.1 ENSP00000365682 Q04724.206 UPI0000137034 NM_005077.5,NM_001303104.1,NM_001303103.1 17/20 PDB-ENSP_mappings:1gxr.A,PDB-ENSP_mappings:1gxr.B,PDB-ENSP_mappings:2ce8.A,PDB-ENSP_mappings:2ce8.B,PDB-ENSP_mappings:2ce8.C,PDB-ENSP_mappings:2ce8.D,PDB-ENSP_mappings:2ce9.A,PDB-ENSP_mappings:2ce9.B,PDB-ENSP_mappings:2ce9.C,PDB-ENSP_mappings:2ce9.D,PDB-ENSP_mappings:5mwj.A,PDB-ENSP_mappings:5mwj.B,CDD:cd00200,Pfam:PF00400,Gene3D:2.130.10.10,SMART:SM00320,Superfamily:SSF50978,PROSITE_profiles:PS50294,PROSITE_profiles:PS50082,PANTHER:PTHR10814,PANTHER:PTHR10814:SF29 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 deletion 1 NA NA NA . CATCATTAGAAATGTCAATACAGCTGGCTC . 3431.6 NA NA NA NA NA NA NA NA NA 81587777 SLC28A3 64078 . GRCh38 chr9 84285532 84285532 + Missense_Mutation SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1460C>T p.Ser487Phe p.S487F ENST00000376238 14/18 NA NA NA NA NA NA SLC28A3,missense_variant,p.Ser487Phe,ENST00000376238,NM_022127.3,NM_001199633.2;AL356134.1,intron_variant,,ENST00000419815,;,regulatory_region_variant,,ENSR00001150686,; A ENSG00000197506 ENST00000376238 Transcript missense_variant 1585/4962 1460/2076 487/691 S/F tCc/tTc 1 NA -1 SLC28A3 HGNC HGNC:16484 protein_coding YES CCDS6670.1 ENSP00000365413 Q9HAS3.149 UPI000006F5A6 NM_022127.3,NM_001199633.2 deleterious(0.01) probably_damaging(0.94) 14/18 Pfam:PF07662,PANTHER:PTHR10590,PANTHER:PTHR10590:SF18,TIGRFAM:TIGR00804,Transmembrane_helices:TMhelix NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . GGA . 2308.6 NA NA NA NA NA NA NA NA NA 84285532 SECISBP2 79048 . GRCh38 chr9 89346986 89346986 + Silent SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1540C>T p.Leu514= p.L514= ENST00000375807 11/17 NA NA NA NA NA NA SECISBP2,synonymous_variant,p.Leu446=,ENST00000534113,NM_001354702.2,NM_001282690.1;SECISBP2,synonymous_variant,p.Leu514=,ENST00000375807,NM_024077.5,NM_001354697.2,NM_001354696.2,NM_001354698.2,NM_001282688.2;SECISBP2,synonymous_variant,p.Leu441=,ENST00000339901,NM_001282689.2;SECISBP2,upstream_gene_variant,,ENST00000498819,; T ENSG00000187742 ENST00000375807 Transcript synonymous_variant 1617/3481 1540/2565 514/854 L Ctg/Ttg 1 NA 1 SECISBP2 HGNC HGNC:30972 protein_coding YES CCDS6683.1 ENSP00000364965 Q96T21.150 UPI00001AEA0A NM_024077.5,NM_001354697.2,NM_001354696.2,NM_001354698.2,NM_001282688.2 11/17 PANTHER:PTHR13284,PANTHER:PTHR13284:SF9,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . ACT . 3423.6 NA NA NA NA NA NA NA NA NA 89346986 ASPN 54829 . GRCh38 chr9 92474743 92474748 + In_Frame_Del DEL TCATCA TCATCA - rs3078372 NA HCI-EC-23 NORMAL TCATCA TCATCA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.150_155del p.Asp50_Asp51del p.D50_D51del ENST00000375544 2/8 NA NA NA NA NA NA ASPN,inframe_deletion,p.Asp50_Asp51del,ENST00000375544,NM_017680.5;ASPN,inframe_deletion,p.Asp50_Asp51del,ENST00000375543,NM_001193335.2;ASPN,inframe_deletion,p.Asp22_Asp23del,ENST00000651738,;CENPP,intron_variant,,ENST00000375587,NM_001286969.1,NM_001012267.3;ASPN,inframe_deletion,p.Asp50_Asp51del,ENST00000650794,; - ENSG00000106819 ENST00000375544 Transcript inframe_deletion 394-399/2470 150-155/1143 50-52/380 DDE/E gaTGATGAg/gag rs3078372 1 NA -1 ASPN HGNC HGNC:14872 protein_coding YES ENSP00000364694 Q9BXN1.176 UPI000013C839 NM_017680.5 2/8 Low_complexity_(Seg):seg,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite,PANTHER:PTHR45712,PANTHER:PTHR45712:SF2,PIRSF:PIRSF002490 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 deletion 1 NA 1 NA 1 . CCTCATCAT . 2573.6 NA NA NA NA NA NA NA NA NA 92474742 WNK2 65268 . GRCh38 chr9 93289369 93289369 + Frame_Shift_Del DEL C C - novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4731del p.Arg1578GlyfsTer48 p.R1578Gfs*48 ENST00000297954 20/30 NA NA NA NA NA NA WNK2,frameshift_variant,p.Arg1537GlyfsTer48,ENST00000432730,;WNK2,frameshift_variant,p.Arg1578GlyfsTer48,ENST00000297954,NM_001282394.1;WNK2,frameshift_variant,p.Arg1541GlyfsTer48,ENST00000395477,NM_006648.3;WNK2,frameshift_variant,p.Arg1145GlyfsTer48,ENST00000411624,;WNK2,frameshift_variant,p.Arg338GlyfsTer48,ENST00000448251,;WNK2,frameshift_variant,p.Arg64GlyfsTer48,ENST00000453718,;WNK2,5_prime_UTR_variant,,ENST00000427277,;WNK2,upstream_gene_variant,,ENST00000474009,;WNK2,upstream_gene_variant,,ENST00000479696,;,regulatory_region_variant,,ENSR00000887081,; - ENSG00000165238 ENST00000297954 Transcript frameshift_variant 4726/7138 4726/6894 1576/2297 P/X Ccc/cc 1 NA 1 WNK2 HGNC HGNC:14542 protein_coding YES CCDS75858.1 ENSP00000297954 Q9Y3S1.176 UPI0000236D76 NM_001282394.1 20/30 PANTHER:PTHR13902,PANTHER:PTHR13902:SF10,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 5 NA 1 . CGCC . 5962.6 NA NA NA NA NA NA NA NA NA 93289368 PHF2 5253 . GRCh38 chr9 93676722 93676723 + In_Frame_Ins INS - - CCTGCCTCCACCACA rs149736720 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2963_2964insTGCCTCCACCACACC p.Thr992_Thr996dup p.T992_T996dup ENST00000359246 21/22 NA NA NA NA NA NA PHF2,inframe_insertion,p.Thr992_Thr996dup,ENST00000359246,NM_005392.4;PHF2,inframe_insertion,p.Thr205_Thr209dup,ENST00000375376,;PHF2,inframe_insertion,p.Thr224_Thr228dup,ENST00000610682,; CCTGCCTCCACCACA ENSG00000197724 ENST00000359246 Transcript inframe_insertion 3151-3152/5392 2961-2962/3291 987-988/1096 -/PASTT -/CCTGCCTCCACCACA rs149736720 1 NA 1 PHF2 HGNC HGNC:8920 protein_coding YES CCDS35069.1 ENSP00000352185 O75151.155 UPI0000211A97 NM_005392.4 21/22 Low_complexity_(Seg):seg,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite,PANTHER:PTHR23123,PANTHER:PTHR23123:SF14 NA 0.6853 0.4265 NA 0.4246 0.5089 0.2321 0.7489 0.626 NA NA NA NA MODERATE 1 insertion 1 2 NA NA . CCC . 4970.06 NA NA NA NA NA NA NA NA NA 93676722 ZNF169 169841 . GRCh38 chr9 94300396 94300396 + Missense_Mutation SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.838C>T p.His280Tyr p.H280Y ENST00000395395 5/5 NA NA NA NA NA NA ZNF169,missense_variant,p.His280Tyr,ENST00000395395,NM_003448.2,NM_001301275.2,NM_194320.4;ZNF169,3_prime_UTR_variant,,ENST00000340911,;ZNF169,downstream_gene_variant,,ENST00000480716,;,regulatory_region_variant,,ENSR00001151795,; T ENSG00000175787 ENST00000395395 Transcript missense_variant 941/2374 838/1812 280/603 H/Y Cac/Tac 1 NA 1 ZNF169 HGNC HGNC:12957 protein_coding YES CCDS6709.2 ENSP00000378792 Q14929.178 UPI00001C1EC1 NM_003448.2,NM_001301275.2,NM_194320.4 deleterious(0) probably_damaging(0.999) 5/5 Gene3D:3.30.160.60,Pfam:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,PANTHER:PTHR24381,PANTHER:PTHR24381:SF25,SMART:SM00355,Superfamily:SSF57667,Superfamily:SSF57667 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 2 NA NA NA . ACA . 7296.6 NA NA NA NA NA NA NA NA NA 94300396 NUTM2F 54754 . GRCh38 chr9 94325839 94325839 + Missense_Mutation SNP C C T rs71230002 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.112G>A p.Ala38Thr p.A38T ENST00000253262 2/7 NA NA NA NA NA NA NUTM2F,missense_variant,p.Ala38Thr,ENST00000253262,NM_017561.2;NUTM2F,missense_variant,p.Ala38Thr,ENST00000341207,;,regulatory_region_variant,,ENSR00000887354,; T ENSG00000130950 ENST00000253262 Transcript missense_variant 133/2559 112/2271 38/756 A/T Gca/Aca rs71230002 1 NA -1 NUTM2F HGNC HGNC:23450 protein_coding YES CCDS47994.1 ENSP00000253262 A1L443.84 UPI00001D771D NM_017561.2 tolerated(0.57) benign(0.052) 2/7 Pfam:PF12881,PANTHER:PTHR22879,PANTHER:PTHR22879:SF14 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . GCT . 2182.6 4.021e-06 6.508e-05 NA NA NA NA NA NA NA 94325839 PTCH1 5727 . GRCh38 chr9 95447335 95447335 + Frame_Shift_Del DEL G G - novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3921del p.Arg1308GlufsTer64 p.R1308Efs*64 ENST00000331920 23/24 NA NA NA NA NA NA PTCH1,frameshift_variant,p.Arg1308GlufsTer64,ENST00000331920,NM_001354918.2,NM_000264.5;PTCH1,frameshift_variant,p.Arg1242GlufsTer64,ENST00000430669,;PTCH1,frameshift_variant,p.Arg1242GlufsTer64,ENST00000437951,NM_001083602.3;PTCH1,frameshift_variant,p.Arg1157GlufsTer64,ENST00000418258,NM_001083607.2;PTCH1,frameshift_variant,p.Arg1157GlufsTer64,ENST00000421141,NM_001083605.2,NM_001083604.2;PTCH1,frameshift_variant,p.Arg1157GlufsTer64,ENST00000429896,NM_001083606.3;PTCH1,frameshift_variant,p.Arg1307GlufsTer64,ENST00000375274,NM_001083603.3;PTCH1,3_prime_UTR_variant,,ENST00000375290,;PTCH1,non_coding_transcript_exon_variant,,ENST00000546744,;,regulatory_region_variant,,ENSR00001151942,; - ENSG00000185920 ENST00000331920 Transcript frameshift_variant 4826/8662 3921/4344 1307/1447 P/X ccC/cc 1 NA -1 PTCH1 HGNC HGNC:9585 protein_coding YES CCDS6714.1 ENSP00000332353 Q13635.203 UPI00001AFF9C NM_001354918.2,NM_000264.5 23/24 PDB-ENSP_mappings:6e1h.A,PDB-ENSP_mappings:6e1h.B,PDB-ENSP_mappings:6oeu.A,PDB-ENSP_mappings:6oev.A,PDB-ENSP_mappings:6rvd.A,PDB-ENSP_mappings:6rvd.B,PANTHER:PTHR46022,PANTHER:PTHR46022:SF5,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 5 NA NA 1 . CTGG . 463.6 NA NA NA NA NA NA NA NA NA 95447334 TRMO 51531 . GRCh38 chr9 97910605 97910605 + Missense_Mutation SNP A A G novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.421T>C p.Tyr141His p.Y141H ENST00000375119 4/5 NA NA NA NA NA NA TRMO,missense_variant,p.Tyr38His,ENST00000611338,;TRMO,missense_variant,p.Tyr141His,ENST00000375119,NM_001371657.1,NM_001371658.1,NM_016481.5,NM_001371659.1;TRMO,5_prime_UTR_variant,,ENST00000375118,NM_001371661.1,NM_001371660.1,NM_001330725.2;TRMO,3_prime_UTR_variant,,ENST00000375117,;TRMO,downstream_gene_variant,,ENST00000455506,;TRMO,non_coding_transcript_exon_variant,,ENST00000478126,;TRMO,non_coding_transcript_exon_variant,,ENST00000471580,; G ENSG00000136932 ENST00000375119 Transcript missense_variant 428/1577 421/1326 141/441 Y/H Tac/Cac 1 NA -1 TRMO HGNC HGNC:30967 protein_coding YES CCDS6730.1 ENSP00000364260 Q9BU70.125 UPI000013D057 NM_001371657.1,NM_001371658.1,NM_016481.5,NM_001371659.1 tolerated(0.31) possibly_damaging(0.796) 4/5 PROSITE_profiles:PS51668,CDD:cd09281,PANTHER:PTHR12818,Gene3D:2.40.30.70,Pfam:PF01980,TIGRFAM:TIGR00104,Superfamily:SSF118196 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . TAT . 1392.6 NA NA NA NA NA NA NA NA NA 97910605 INVS 27130 . GRCh38 chr9 100226135 100226135 + Missense_Mutation SNP C C T rs1012219252 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.347C>T p.Thr116Ile p.T116I ENST00000262457 4/17 NA NA NA NA NA NA INVS,missense_variant,p.Thr116Ile,ENST00000262457,NM_001318381.1,NM_001318382.1,NM_014425.5;INVS,missense_variant,p.Thr116Ile,ENST00000262456,;INVS,non_coding_transcript_exon_variant,,ENST00000460636,;INVS,non_coding_transcript_exon_variant,,ENST00000466647,;INVS,non_coding_transcript_exon_variant,,ENST00000496467,; T ENSG00000119509 ENST00000262457 Transcript missense_variant 545/4897 347/3198 116/1065 T/I aCt/aTt rs1012219252 1 NA 1 INVS HGNC HGNC:17870 protein_coding YES CCDS6746.1 ENSP00000262457 Q9Y283.171 A0A024R153.51 UPI000013D2BB NM_001318381.1,NM_001318382.1,NM_014425.5 deleterious(0.02) probably_damaging(0.999) 4/17 Gene3D:1.25.40.20,Pfam:PF12796,PROSITE_profiles:PS50297,PANTHER:PTHR24178,PANTHER:PTHR24178:SF2,SMART:SM00248,Superfamily:SSF48403 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . ACT . 989.6 NA NA NA NA NA NA NA NA NA 100226135 SMC2 10592 . GRCh38 chr9 104129791 104129791 + Silent SNP A A G rs1172616703 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2937A>G p.Leu979= p.L979= ENST00000286398 21/25 NA NA NA NA NA NA SMC2,synonymous_variant,p.Leu979=,ENST00000286398,NM_001265602.1;SMC2,synonymous_variant,p.Leu979=,ENST00000374793,NM_001042551.2,NM_006444.3;SMC2,synonymous_variant,p.Leu979=,ENST00000374787,NM_001042550.2;SMC2,synonymous_variant,p.Leu46=,ENST00000493955,; G ENSG00000136824 ENST00000286398 Transcript synonymous_variant 3241/5992 2937/3594 979/1197 L ctA/ctG rs1172616703 1 NA 1 SMC2 HGNC HGNC:14011 protein_coding YES CCDS35086.1 ENSP00000286398 O95347.177 A0A024R158.49 UPI000013DE44 NM_001265602.1 21/25 Pfam:PF02463,PIRSF:PIRSF005719,PANTHER:PTHR43977,PANTHER:PTHR43977:SF3,Superfamily:SSF52540 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . TAG . 1071.6 NA NA NA NA NA NA NA NA NA 104129791 SLC44A1 23446 . GRCh38 chr9 105335640 105335640 + Missense_Mutation SNP C C T rs751776745 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.347C>T p.Ala116Val p.A116V ENST00000374720 4/16 NA NA NA NA NA NA SLC44A1,missense_variant,p.Ala116Val,ENST00000374720,NM_080546.5;SLC44A1,missense_variant,p.Ala116Val,ENST00000374723,NM_001286730.2;SLC44A1,missense_variant,p.Ala116Val,ENST00000374724,NM_001330731.1;SLC44A1,downstream_gene_variant,,ENST00000607692,;SLC44A1,missense_variant,p.Ala116Val,ENST00000470972,; T ENSG00000070214 ENST00000374720 Transcript missense_variant 565/10482 347/1974 116/657 A/V gCg/gTg rs751776745 1 NA 1 SLC44A1 HGNC HGNC:18798 protein_coding YES CCDS6763.1 ENSP00000363852 Q8WWI5.148 A0A024R151.45 UPI0000062328 NM_080546.5 tolerated(0.07) benign(0.019) 4/16 PANTHER:PTHR12385,PANTHER:PTHR12385:SF56 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . GCG . 971.6 1.992e-05 NA NA NA NA NA NA NA 0.0001636 105335640 ZNF462 58499 . GRCh38 chr9 106928910 106928910 + Silent SNP G G A rs148720292 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4998G>A p.Lys1666= p.K1666= ENST00000277225 3/13 NA NA NA NA NA NA ZNF462,synonymous_variant,p.Lys1666=,ENST00000277225,NM_021224.6,NM_001347997.2;ZNF462,synonymous_variant,p.Lys549=,ENST00000374686,;ZNF462,synonymous_variant,p.Lys511=,ENST00000441147,;ZNF462,intron_variant,,ENST00000472574,;ZNF462,intron_variant,,ENST00000480607,;ZNF462,upstream_gene_variant,,ENST00000469433,;ZNF462,upstream_gene_variant,,ENST00000471032,;ZNF462,upstream_gene_variant,,ENST00000479166,;ZNF462,upstream_gene_variant,,ENST00000497489,; A ENSG00000148143 ENST00000277225 Transcript synonymous_variant 5218/10345 4998/7521 1666/2506 K aaG/aaA rs148720292 1 NA 1 ZNF462 HGNC HGNC:21684 protein_coding YES CCDS35096.1 ENSP00000277225 Q96JM2.157 UPI0000470106 NM_021224.6,NM_001347997.2 3/13 Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PANTHER:PTHR24403,PANTHER:PTHR24403:SF58,SMART:SM00355 NA NA NA NA NA NA NA NA 0.0001163 NA NA NA NA LOW 1 SNV 1 NA NA 1 . AGT . 4920.6 3.979e-06 NA NA NA NA NA 8.797e-06 NA NA 106928910 PALM2AKAP2 445815 . GRCh38 chr9 110138198 110138198 + Frame_Shift_Del DEL G G - novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2658del p.Gln889SerfsTer33 p.Q889Sfs*33 ENST00000374530 8/11 NA NA NA NA NA NA PALM2AKAP2,frameshift_variant,p.Gln889SerfsTer33,ENST00000374530,NM_007203.5;PALM2AKAP2,frameshift_variant,p.Gln747SerfsTer33,ENST00000374525,NM_001004065.4;PALM2AKAP2,frameshift_variant,p.Gln889SerfsTer33,ENST00000302798,NM_147150.3;PALM2AKAP2,frameshift_variant,p.Gln747SerfsTer33,ENST00000434623,NM_001198656.1;PALM2AKAP2,frameshift_variant,p.Gln658SerfsTer33,ENST00000259318,NM_001136562.3;PALM2AKAP2,frameshift_variant,p.Gln707SerfsTer33,ENST00000480388,;PALM2AKAP2,downstream_gene_variant,,ENST00000413420,;PALM2AKAP2,non_coding_transcript_exon_variant,,ENST00000482335,;PALM2AKAP2,downstream_gene_variant,,ENST00000471798,;PALM2AKAP2,intron_variant,,ENST00000495980,; - ENSG00000157654 ENST00000374530 Transcript frameshift_variant 2834/7507 2654/3312 885/1103 R/X aGg/ag 1 NA 1 PALM2AKAP2 HGNC HGNC:33529 protein_coding YES CCDS35100.1 ENSP00000363654 UPI0000125755 NM_007203.5 8/11 PANTHER:PTHR10498,PANTHER:PTHR10498:SF10,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 2 4 NA NA . AAGG . 3625.6 NA NA NA NA NA NA NA NA NA 110138197 PALM2AKAP2 445815 . GRCh38 chr9 110138203 110138203 + Frame_Shift_Del DEL C C - rs376237093 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2665del p.Gln889SerfsTer33 p.Q889Sfs*33 ENST00000374530 8/11 NA NA NA NA NA NA PALM2AKAP2,frameshift_variant,p.Gln889SerfsTer33,ENST00000374530,NM_007203.5;PALM2AKAP2,frameshift_variant,p.Gln747SerfsTer33,ENST00000374525,NM_001004065.4;PALM2AKAP2,frameshift_variant,p.Gln889SerfsTer33,ENST00000302798,NM_147150.3;PALM2AKAP2,frameshift_variant,p.Gln747SerfsTer33,ENST00000434623,NM_001198656.1;PALM2AKAP2,frameshift_variant,p.Gln658SerfsTer33,ENST00000259318,NM_001136562.3;PALM2AKAP2,frameshift_variant,p.Gln707SerfsTer33,ENST00000480388,;PALM2AKAP2,downstream_gene_variant,,ENST00000413420,;PALM2AKAP2,non_coding_transcript_exon_variant,,ENST00000482335,;PALM2AKAP2,downstream_gene_variant,,ENST00000471798,;PALM2AKAP2,intron_variant,,ENST00000495980,; - ENSG00000157654 ENST00000374530 Transcript frameshift_variant 2839/7507 2659/3312 887/1103 P/X Ccc/cc rs376237093 1 NA 1 PALM2AKAP2 HGNC HGNC:33529 protein_coding YES CCDS35100.1 ENSP00000363654 UPI0000125755 NM_007203.5 8/11 PANTHER:PTHR10498,PANTHER:PTHR10498:SF10,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 2 6 NA NA . GGCC . 4620.6 2.53e-05 NA NA NA NA 4.843e-05 3.804e-05 0.0001711 NA 110138202 MUSK 4593 . GRCh38 chr9 110800898 110800898 + Missense_Mutation SNP C C A rs768074747 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2520C>A p.Ser840Arg p.S840R ENST00000374448 15/15 NA NA NA NA NA NA MUSK,missense_variant,p.Ser840Arg,ENST00000374448,NM_005592.4;MUSK,missense_variant,p.Ser832Arg,ENST00000416899,NM_001166281.2;MUSK,missense_variant,p.Ser754Arg,ENST00000189978,NM_001166280.2;MUSK,missense_variant,p.Ser754Arg,ENST00000374440,; A ENSG00000030304 ENST00000374448 Transcript missense_variant 2634/8294 2520/2610 840/869 S/R agC/agA rs768074747 1 NA 1 MUSK HGNC HGNC:7525 protein_coding YES CCDS48005.1 ENSP00000363571 O15146.176 UPI000006D2F7 NM_005592.4 tolerated(0.06) probably_damaging(0.999) 15/15 CDD:cd05050,Gene3D:1.10.510.10,Pfam:PF07714,PIRSF:PIRSF000615,SMART:SM00219,Superfamily:SSF56112,PROSITE_profiles:PS50011,PANTHER:PTHR24416:SF317,PANTHER:PTHR24416,Prints:PR00109 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA 1 . GCA . 2819.6 6.922e-05 NA 3.659e-05 NA NA NA 0.0001356 NA NA 110800898 PTBP3 9991 . GRCh38 chr9 112262511 112262511 + Missense_Mutation SNP A A G rs760403242 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.542T>C p.Leu181Pro p.L181P ENST00000458258 5/14 NA NA NA NA NA NA PTBP3,missense_variant,p.Leu181Pro,ENST00000458258,NM_001244898.1;PTBP3,missense_variant,p.Leu178Pro,ENST00000334318,NM_001163790.2;PTBP3,missense_variant,p.Leu147Pro,ENST00000374257,NM_001244897.2,NM_001375918.1,NM_001163788.4;PTBP3,missense_variant,p.Leu175Pro,ENST00000374255,NM_005156.7;PTBP3,missense_variant,p.Leu80Pro,ENST00000343327,NM_001244896.2,NM_001375920.1;PTBP3,missense_variant,p.Leu181Pro,ENST00000210227,;PTBP3,non_coding_transcript_exon_variant,,ENST00000487997,; G ENSG00000119314 ENST00000458258 Transcript missense_variant 725/7995 542/1677 181/558 L/P cTa/cCa rs760403242 1 NA -1 PTBP3 HGNC HGNC:10253 protein_coding YES CCDS59141.1 ENSP00000414921 O95758.167 UPI000000DA96 NM_001244898.1 tolerated(0.2) benign(0.003) 5/14 PANTHER:PTHR15592,PANTHER:PTHR15592:SF17,TIGRFAM:TIGR01649 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . TAG . 2300.6 5.228e-05 NA NA NA NA NA 9.721e-05 0.0001661 3.327e-05 112262511 KIAA1958 158405 . GRCh38 chr9 112645750 112645750 + Silent SNP G G A rs372461264 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1356G>A p.Thr452= p.T452= ENST00000536272 4/5 NA NA NA NA NA NA KIAA1958,synonymous_variant,p.Thr424=,ENST00000337530,NM_133465.4,NM_001287038.2;KIAA1958,synonymous_variant,p.Thr452=,ENST00000536272,NM_001287036.1; A ENSG00000165185 ENST00000536272 Transcript synonymous_variant 1531/7650 1356/2235 452/744 T acG/acA rs372461264,COSV100516155 1 NA 1 KIAA1958 HGNC HGNC:23427 protein_coding YES CCDS69642.1 ENSP00000440504 Q8N8K9.127 UPI000189A74D NM_001287036.1 4/5 PANTHER:PTHR46963 NA NA NA NA NA NA NA NA 0.0001163 0,1 NA NA NA NA LOW 1 SNV 1 NA 0,1 NA NA . CGC . 1292.6 2.388e-05 NA NA NA NA NA 3.52e-05 NA 6.535e-05 112645750 WDR31 114987 . GRCh38 chr9 113316831 113316831 + Missense_Mutation SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1022G>A p.Cys341Tyr p.C341Y ENST00000374193 11/11 NA NA NA NA NA NA WDR31,missense_variant,p.Cys341Tyr,ENST00000374193,NM_001006615.3,NM_001012361.4;WDR31,missense_variant,p.Cys340Tyr,ENST00000341761,NM_145241.5;WDR31,missense_variant,p.Cys340Tyr,ENST00000374195,;WDR31,downstream_gene_variant,,ENST00000465979,;WDR31,non_coding_transcript_exon_variant,,ENST00000461942,;WDR31,3_prime_UTR_variant,,ENST00000465205,; T ENSG00000148225 ENST00000374193 Transcript missense_variant 1262/4871 1022/1104 341/367 C/Y tGt/tAt 1 NA -1 WDR31 HGNC HGNC:21421 protein_coding YES CCDS35110.1 ENSP00000363308 Q8NA23.140 A0A024R876.43 UPI000006D080 NM_001006615.3,NM_001012361.4 deleterious(0) probably_damaging(0.998) 11/11 Gene3D:2.130.10.10,PANTHER:PTHR19869,SMART:SM00320,Superfamily:SSF50978,CDD:cd00200 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . ACA . 527.6 NA NA NA NA NA NA NA NA NA 113316831 BSPRY 54836 . GRCh38 chr9 113349628 113349633 + In_Frame_Del DEL GGGCCG GGGCCG - novel NA HCI-EC-23 NORMAL GGGCCG GGGCCG NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.54_59del p.Gly19_Pro20del p.G19_P20del ENST00000374183 1/6 NA NA NA NA NA NA BSPRY,inframe_deletion,p.Gly19_Pro20del,ENST00000374183,NM_001317943.2,NM_017688.3,NM_001317944.2;BSPRY,non_coding_transcript_exon_variant,,ENST00000462085,;,regulatory_region_variant,,ENSR00000240078,; - ENSG00000119411 ENST00000374183 Transcript inframe_deletion 88-93/2328 49-54/1209 17-18/402 GP/- GGGCCG/- 1 NA 1 BSPRY HGNC HGNC:18232 protein_coding YES CCDS43868.1 ENSP00000363298 Q5W0U4.133 UPI000013CA39 NM_001317943.2,NM_017688.3,NM_001317944.2 1/6 Gene3D:3.30.40.200,Superfamily:SSF57845,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 deletion 1 5 NA NA . CCGGGCCGG . 172.6 NA NA NA NA NA NA NA NA NA 113349627 RAB14 51552 . GRCh38 chr9 121192172 121192172 + Frame_Shift_Del DEL T T - rs1564320972 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.105del p.Lys35AsnfsTer18 p.K35Nfs*18 ENST00000373840 3/8 NA NA NA NA NA NA RAB14,frameshift_variant,p.Lys35AsnfsTer18,ENST00000373840,NM_016322.4;RAB14,frameshift_variant,p.Lys35AsnfsTer18,ENST00000451303,; - ENSG00000119396 ENST00000373840 Transcript frameshift_variant,splice_region_variant 343/4149 105/648 35/215 K/X aaA/aa rs1564320972 1 NA -1 RAB14 HGNC HGNC:16524 protein_coding YES CCDS6827.1 ENSP00000362946 P61106.177 A0A024R845.44 UPI0000006BF0 NM_016322.4 3/8 PDB-ENSP_mappings:1z0f.A,PDB-ENSP_mappings:4d0g.A,PDB-ENSP_mappings:4drz.A,PROSITE_profiles:PS51419,CDD:cd04122,PANTHER:PTHR24073:SF1098,PANTHER:PTHR24073,Pfam:PF00071,TIGRFAM:TIGR00231,Gene3D:3.40.50.300,SMART:SM00173,SMART:SM00176,SMART:SM00175,SMART:SM00174,Superfamily:SSF52540,Prints:PR00449 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 NA NA 1 . CATT . 1349.6 2.07e-05 NA 6.189e-05 NA NA 4.852e-05 1.809e-05 NA NA 121192171 CRB2 286204 . GRCh38 chr9 123363117 123363117 + Missense_Mutation SNP C C T rs542211566 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.347C>T p.Pro116Leu p.P116L ENST00000373631 2/13 NA NA NA NA NA NA CRB2,missense_variant,p.Pro116Leu,ENST00000373631,NM_173689.7;CRB2,missense_variant,p.Pro116Leu,ENST00000359999,; T ENSG00000148204 ENST00000373631 Transcript missense_variant 411/5613 347/3858 116/1285 P/L cCg/cTg rs542211566 1 NA 1 CRB2 HGNC HGNC:18688 protein_coding YES CCDS6852.2 ENSP00000362734 Q5IJ48.146 UPI000022D9DE NM_173689.7 deleterious(0) probably_damaging(1) 2/13 Gene3D:2.10.25.10,Pfam:PF00008,Prints:PR00010,PROSITE_patterns:PS01187,PROSITE_profiles:PS50026,PANTHER:PTHR24049,PANTHER:PTHR24049:SF19,SMART:SM00179,SMART:SM00181,Superfamily:SSF57196,CDD:cd00054 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . CCG . 1724.6 6.593e-05 NA 0.0001456 NA NA NA 6.436e-05 0.0001672 9.825e-05 123363117 GAPVD1 26130 . GRCh38 chr9 125312537 125312537 + Silent SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1527G>A p.Val509= p.V509= ENST00000394105 7/27 NA NA NA NA NA NA GAPVD1,synonymous_variant,p.Val509=,ENST00000297933,NM_001354296.2,NM_001354301.2,NM_001354299.2,NM_001282680.3,NM_001354295.2,NM_001354294.2;GAPVD1,synonymous_variant,p.Val509=,ENST00000470056,NM_001330778.3;GAPVD1,synonymous_variant,p.Val509=,ENST00000394104,;GAPVD1,synonymous_variant,p.Val509=,ENST00000495955,NM_001282679.2;GAPVD1,synonymous_variant,p.Val509=,ENST00000394105,NM_015635.4,NM_001354298.2;GAPVD1,synonymous_variant,p.Val509=,ENST00000394083,NM_001330777.3;GAPVD1,synonymous_variant,p.Val509=,ENST00000312123,NM_001354297.2,NM_001354300.2,NM_001282681.3;GAPVD1,synonymous_variant,p.Val509=,ENST00000467750,;GAPVD1,synonymous_variant,p.Val368=,ENST00000265956,;GAPVD1,synonymous_variant,p.Val372=,ENST00000431329,;GAPVD1,synonymous_variant,p.Val367=,ENST00000436712,;GAPVD1,downstream_gene_variant,,ENST00000394084,NM_001354293.2;GAPVD1,synonymous_variant,p.Val509=,ENST00000497580,; A ENSG00000165219 ENST00000394105 Transcript synonymous_variant 1687/5207 1527/4464 509/1487 V gtG/gtA 1 NA 1 GAPVD1 HGNC HGNC:23375 protein_coding YES CCDS35138.1 ENSP00000377665 Q14C86.132 A0A024R8A2.56 UPI00001D76F1 NM_015635.4,NM_001354298.2 7/27 PANTHER:PTHR23101,PANTHER:PTHR23101:SF111 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA 1 . TGC . 290.6 NA NA NA NA NA NA NA NA NA 125312537 NIBAN2 64855 . GRCh38 chr9 127568871 127568871 + Missense_Mutation SNP C C A novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4G>T p.Gly2Trp p.G2W ENST00000373312 1/14 NA NA NA NA NA NA NIBAN2,missense_variant,p.Gly2Trp,ENST00000373312,NM_022833.4;NIBAN2,intron_variant,,ENST00000373314,NM_001035534.3;NIBAN2,non_coding_transcript_exon_variant,,ENST00000468379,;NIBAN2,non_coding_transcript_exon_variant,,ENST00000478917,;NIBAN2,intron_variant,,ENST00000484348,;,regulatory_region_variant,,ENSR00000241711,;,TF_binding_site_variant,,ENSM00165157615,;,TF_binding_site_variant,,ENSM00226757846,; A ENSG00000136830 ENST00000373312 Transcript missense_variant 203/3942 4/2241 2/746 G/W Ggg/Tgg 1 NA -1 NIBAN2 HGNC HGNC:25282 protein_coding YES CCDS35145.1 ENSP00000362409 Q96TA1.159 UPI00001592F0 NM_022833.4 deleterious(0) probably_damaging(1) 1/14 PANTHER:PTHR14392,PANTHER:PTHR14392:SF2 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CCC . 1230.6 NA NA NA NA NA NA NA NA NA 127568871 GOLGA2 2801 . GRCh38 chr9 128261693 128261693 + Missense_Mutation SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1118C>T p.Ala373Val p.A373V ENST00000611957 14/26 NA NA NA NA NA NA GOLGA2,missense_variant,p.Ala361Val,ENST00000421699,NM_004486.5,NM_001366246.1,NM_001366244.1;GOLGA2,missense_variant,p.Ala373Val,ENST00000611957,;GOLGA2,missense_variant,p.Ala388Val,ENST00000450617,;GOLGA2,intron_variant,,ENST00000610329,;GOLGA2,downstream_gene_variant,,ENST00000458730,;GOLGA2,upstream_gene_variant,,ENST00000639983,;GOLGA2,non_coding_transcript_exon_variant,,ENST00000490257,;GOLGA2,non_coding_transcript_exon_variant,,ENST00000470630,;GOLGA2,non_coding_transcript_exon_variant,,ENST00000468488,;GOLGA2,upstream_gene_variant,,ENST00000461031,;GOLGA2,upstream_gene_variant,,ENST00000462089,;GOLGA2,upstream_gene_variant,,ENST00000486411,;GOLGA2,upstream_gene_variant,,ENST00000496221,;,regulatory_region_variant,,ENSR00001155249,; A ENSG00000167110 ENST00000611957 Transcript missense_variant 1131/4259 1118/3009 373/1002 A/V gCa/gTa 1 NA -1 GOLGA2 HGNC HGNC:4425 protein_coding YES CCDS6896.2 ENSP00000478799 Q08379.188 UPI0000D4C11A tolerated(0.05) benign(0.026) 14/26 Coiled-coils_(Ncoils):Coil,PANTHER:PTHR10881 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . TGC . 3620.6 NA NA NA NA NA NA NA NA NA 128261693 GLE1 2733 . GRCh38 chr9 128508892 128508892 + Missense_Mutation SNP G G A rs138871311 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.116G>A p.Cys39Tyr p.C39Y ENST00000309971 2/16 NA NA NA NA NA NA GLE1,missense_variant,p.Cys39Tyr,ENST00000309971,NM_001003722.2;GLE1,missense_variant,p.Cys39Tyr,ENST00000372770,NM_001499.2; A ENSG00000119392 ENST00000309971 Transcript missense_variant 203/3302 116/2097 39/698 C/Y tGt/tAt rs138871311 1 NA 1 GLE1 HGNC HGNC:4315 protein_coding YES CCDS35154.1 ENSP00000308622 Q53GS7.139 UPI000013EF77 NM_001003722.2 tolerated(0.06) benign(0.007) 2/16 PANTHER:PTHR12960 2e-04 NA NA NA NA 0.001 NA NA 0.0005814 likely_benign NA NA NA NA MODERATE 1 SNV 1 NA 1 NA 1 . TGT . 1736.6 0.0001869 6.152e-05 0.0002024 NA NA NA 0.0003253 0.0003257 NA 128508892 SPTAN1 6709 . GRCh38 chr9 128607915 128607915 + Missense_Mutation SNP C C G NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4210C>G p.Gln1404Glu p.Q1404E ENST00000630866 32/57 NA NA NA NA NA NA SPTAN1,missense_variant,p.Gln1404Glu,ENST00000372731,NM_003127.4;SPTAN1,missense_variant,p.Gln1404Glu,ENST00000372739,NM_001375312.2,NM_001375311.2,NM_001375310.1,NM_001130438.3,NM_001375313.1;SPTAN1,missense_variant,p.Gln1384Glu,ENST00000630804,NM_001375314.2,NM_001363765.2;SPTAN1,missense_variant,p.Gln1384Glu,ENST00000358161,NM_001195532.2;SPTAN1,missense_variant,p.Gln1404Glu,ENST00000630866,NM_001375318.1,NM_001363759.2;SPTAN1,upstream_gene_variant,,ENST00000637434,;SPTAN1,non_coding_transcript_exon_variant,,ENST00000635853,;SPTAN1,non_coding_transcript_exon_variant,,ENST00000461855,;SPTAN1,non_coding_transcript_exon_variant,,ENST00000631315,;SPTAN1,upstream_gene_variant,,ENST00000476825,;SPTAN1,upstream_gene_variant,,ENST00000629137,;SPTAN1,upstream_gene_variant,,ENST00000629378,;SPTAN1,upstream_gene_variant,,ENST00000631121,;SPTAN1,downstream_gene_variant,,ENST00000635806,;SPTAN1,upstream_gene_variant,,ENST00000637820,;,regulatory_region_variant,,ENSR00000895177,;,TF_binding_site_variant,,ENSM00204326430,; G ENSG00000197694 ENST00000630866 Transcript missense_variant 4210/7498 4210/7497 1404/2498 Q/E Cag/Gag COSV100823968 1 NA 1 SPTAN1 HGNC HGNC:11273 protein_coding YES CCDS87695.1 ENSP00000487444 A0A0D9SGF6.45 UPI0003EAE58C NM_001375318.1,NM_001363759.2 tolerated(0.74) probably_damaging(0.932) 32/57 Gene3D:1.20.58.60,Pfam:PF00435,PANTHER:PTHR11915,PANTHER:PTHR11915:SF427,SMART:SM00150,Superfamily:SSF46966,Superfamily:SSF46966,CDD:cd00176 NA NA NA NA NA NA NA NA NA 1 NA NA NA NA MODERATE 1 SNV 5 NA 1 NA 1 . GCA . 2084.6 NA NA NA NA NA NA NA NA NA 128607915 C9orf50 375759 . GRCh38 chr9 129620405 129620405 + Frame_Shift_Del DEL C C - rs1423916757 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.170del p.Gly57AlafsTer87 p.G57Afs*87 ENST00000372478 1/7 NA NA NA NA NA NA C9orf50,frameshift_variant,p.Gly57AlafsTer87,ENST00000372478,NM_199350.3;NTMT1,intron_variant,,ENST00000372486,NM_001286796.1;NTMT1,intron_variant,,ENST00000613644,NM_001286797.1;C9orf50,intron_variant,,ENST00000619117,;C9orf50,upstream_gene_variant,,ENST00000651030,;,regulatory_region_variant,,ENSR00000242046,; - ENSG00000179058 ENST00000372478 Transcript frameshift_variant 372/1620 170/1296 57/431 G/X gGc/gc rs1423916757,COSV65252410 1 NA -1 C9orf50 HGNC HGNC:23677 protein_coding YES CCDS35159.1 ENSP00000361556 Q5SZB4.93 UPI00001D76F7 NM_199350.3 1/7 PANTHER:PTHR36865 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA HIGH 1 deletion 2 NA 0,1 NA NA . CGCC . 1289.6 NA NA NA NA NA NA NA NA NA 129620404 NTMT1 28989 . GRCh38 chr9 129632749 129632749 + Missense_Mutation SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.46G>A p.Ala16Thr p.A16T ENST00000611055 2/4 NA NA NA NA NA NA NTMT1,missense_variant,p.Ala16Thr,ENST00000611055,NM_001286798.1;NTMT1,missense_variant,p.Ala16Thr,ENST00000372483,NM_014064.4;NTMT1,missense_variant,p.Ala16Thr,ENST00000613644,NM_001286797.1;NTMT1,missense_variant,p.Ala16Thr,ENST00000372486,NM_001286796.1;NTMT1,missense_variant,p.Ala16Thr,ENST00000459968,;NTMT1,missense_variant,p.Ala16Thr,ENST00000372480,NM_001286799.1;NTMT1,missense_variant,p.Ala16Thr,ENST00000372481,NM_001286801.1,NM_001286800.1;NTMT1,intron_variant,,ENST00000482347,;NTMT1,intron_variant,,ENST00000617943,NM_001286802.1,NM_001286803.1;ASB6,downstream_gene_variant,,ENST00000277458,NM_017873.4;ASB6,downstream_gene_variant,,ENST00000277459,NM_177999.3;ASB6,downstream_gene_variant,,ENST00000450050,NM_001202403.1;NTMT1,non_coding_transcript_exon_variant,,ENST00000486391,;NTMT1,missense_variant,p.Ala16Thr,ENST00000481189,; A ENSG00000148335 ENST00000611055 Transcript missense_variant 269/1562 46/672 16/223 A/T Gcc/Acc 1 NA 1 NTMT1 HGNC HGNC:23373 protein_coding YES CCDS35160.1 ENSP00000483489 Q9BV86.172 A0A024R8E4.49 UPI000004A00F NM_001286798.1 deleterious(0) probably_damaging(0.999) 2/4 PDB-ENSP_mappings:2ex4.A,PDB-ENSP_mappings:2ex4.B,PDB-ENSP_mappings:5cvd.A,PDB-ENSP_mappings:5cvd.B,PDB-ENSP_mappings:5cve.A,PDB-ENSP_mappings:5cve.B,PDB-ENSP_mappings:5e1b.A,PDB-ENSP_mappings:5e1b.B,PDB-ENSP_mappings:5e1d.A,PDB-ENSP_mappings:5e1d.B,PDB-ENSP_mappings:5e1m.A,PDB-ENSP_mappings:5e1m.B,PDB-ENSP_mappings:5e1o.A,PDB-ENSP_mappings:5e1o.B,PDB-ENSP_mappings:5e2a.A,PDB-ENSP_mappings:5e2a.B,PDB-ENSP_mappings:5e2b.A,PDB-ENSP_mappings:5e2b.B,PDB-ENSP_mappings:6dtn.B,PANTHER:PTHR12753:SF1,PANTHER:PTHR12753,Gene3D:3.40.50.150,Pfam:PF05891,PIRSF:PIRSF016958,Superfamily:SSF53335 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE NA SNV 3 NA NA NA . GGC . 2298.6 NA NA NA NA NA NA NA NA NA 129632749 ASB6 140459 . GRCh38 chr9 129640643 129640643 + Frame_Shift_Del DEL A A - novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.193del p.Tyr65ThrfsTer5 p.Y65Tfs*5 ENST00000277458 2/6 NA NA NA NA NA NA ASB6,frameshift_variant,p.Tyr65ThrfsTer5,ENST00000277458,NM_017873.4;ASB6,frameshift_variant,p.Tyr65ThrfsTer5,ENST00000450050,NM_001202403.1;ASB6,frameshift_variant,p.Tyr65ThrfsTer5,ENST00000277459,NM_177999.3;NTMT1,downstream_gene_variant,,ENST00000372483,NM_014064.4;NTMT1,downstream_gene_variant,,ENST00000372486,NM_001286796.1;NTMT1,downstream_gene_variant,,ENST00000482347,;NTMT1,downstream_gene_variant,,ENST00000611055,NM_001286798.1;NTMT1,downstream_gene_variant,,ENST00000613644,NM_001286797.1;NTMT1,downstream_gene_variant,,ENST00000617943,NM_001286802.1,NM_001286803.1;AL590369.1,non_coding_transcript_exon_variant,,ENST00000455074,;,regulatory_region_variant,,ENSR00000242049,; - ENSG00000148331 ENST00000277458 Transcript frameshift_variant 345/4603 193/1266 65/421 Y/X Tac/ac 1 NA -1 ASB6 HGNC HGNC:17181 protein_coding YES CCDS6924.1 ENSP00000277458 Q9NWX5.156 UPI000004A09F NM_017873.4 2/6 PROSITE_profiles:PS50297,PANTHER:PTHR24132,PANTHER:PTHR24132:SF17,Gene3D:1.25.40.20,Superfamily:SSF48403 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 NA NA NA . GTAA . 9599.6 NA NA NA NA NA NA NA NA NA 129640642 HMCN2 256158 . GRCh38 chr9 130325648 130325648 + Missense_Mutation SNP G G C rs920759777 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2971G>C p.Ala991Pro p.A991P ENST00000624552 20/98 NA NA NA NA NA NA HMCN2,missense_variant,p.Ala991Pro,ENST00000624552,NM_001291815.2;HMCN2,missense_variant,p.Ala255Pro,ENST00000611173,;,regulatory_region_variant,,ENSR00001155591,; C ENSG00000148357 ENST00000624552 Transcript missense_variant 2971/15610 2971/15180 991/5059 A/P Gcg/Ccg rs920759777 1 NA 1 HMCN2 HGNC HGNC:21293 protein_coding YES ENSP00000485357 Q8NDA2.131 UPI0004F23675 NM_001291815.2 tolerated(1) benign(0) 20/98 Gene3D:2.60.40.10,Pfam:PF13927,PROSITE_profiles:PS50835,PANTHER:PTHR45889,PANTHER:PTHR45889:SF4,SMART:SM00408,SMART:SM00409,Superfamily:SSF48726 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . TGC . 15568.03 NA NA NA NA NA NA NA NA NA 130325648 HMCN2 256158 . GRCh38 chr9 130376549 130376549 + Missense_Mutation SNP C C G rs7864096 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.7949C>G p.Ala2650Gly p.A2650G ENST00000624552 52/98 NA NA NA NA NA NA HMCN2,missense_variant,p.Ala2650Gly,ENST00000624552,NM_001291815.2; G ENSG00000148357 ENST00000624552 Transcript missense_variant 7949/15610 7949/15180 2650/5059 A/G gCg/gGg rs7864096 1 NA 1 HMCN2 HGNC HGNC:21293 protein_coding YES ENSP00000485357 Q8NDA2.131 UPI0004F23675 NM_001291815.2 tolerated(1) benign(0) 52/98 Gene3D:2.60.40.10,PROSITE_profiles:PS50835,PANTHER:PTHR45889,PANTHER:PTHR45889:SF4 NA 0.7141 0.9856 NA 0.9712 0.995 0.9294 NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . GCG . 15633.03 NA NA NA NA NA NA NA NA NA 130376549 HMCN2 256158 . GRCh38 chr9 130388536 130388536 + Silent SNP T T C rs7849839 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.9516T>C p.Pro3172= p.P3172= ENST00000624552 62/98 NA NA NA NA NA NA HMCN2,synonymous_variant,p.Pro3172=,ENST00000624552,NM_001291815.2;HMCN2,synonymous_variant,p.Pro205=,ENST00000487727,; C ENSG00000148357 ENST00000624552 Transcript synonymous_variant 9516/15610 9516/15180 3172/5059 P ccT/ccC rs7849839 1 NA 1 HMCN2 HGNC HGNC:21293 protein_coding YES ENSP00000485357 Q8NDA2.131 UPI0004F23675 NM_001291815.2 62/98 Gene3D:2.60.40.10,Pfam:PF13927,PROSITE_profiles:PS50835,PANTHER:PTHR45889,PANTHER:PTHR45889:SF4,SMART:SM00406,SMART:SM00408,SMART:SM00409,Superfamily:SSF48726,CDD:cd00096 NA 0.733 0.9827 NA 0.9712 0.996 0.9325 NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . CTG . 14346.03 NA NA NA NA NA NA NA NA NA 130388536 ABL1 25 . GRCh38 chr9 130884637 130884637 + Frame_Shift_Del DEL C C - novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2409del p.Arg804GlyfsTer3 p.R804Gfs*3 ENST00000372348 11/11 NA NA NA NA NA NA ABL1,frameshift_variant,p.Arg785GlyfsTer3,ENST00000318560,NM_005157.6;ABL1,frameshift_variant,p.Arg804GlyfsTer3,ENST00000372348,NM_007313.2;,regulatory_region_variant,,ENSR00000895992,; - ENSG00000097007 ENST00000372348 Transcript frameshift_variant 3708/4754 2404/3450 802/1149 P/X Ccc/cc 1 NA 1 ABL1 HGNC HGNC:76 protein_coding YES CCDS35165.1 ENSP00000361423 P00519.264 UPI000013E4DE NM_007313.2 11/11 MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 5 NA 1 . CTCC . 5732.6 NA NA NA NA NA NA NA NA NA 130884636 NTNG2 84628 . GRCh38 chr9 132198529 132198529 + Silent SNP G G A rs889406537 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.777G>A p.Pro259= p.P259= ENST00000393229 3/8 NA NA NA NA NA NA NTNG2,synonymous_variant,p.Pro259=,ENST00000393229,NM_032536.4;NTNG2,synonymous_variant,p.Pro259=,ENST00000372179,; A ENSG00000196358 ENST00000393229 Transcript synonymous_variant 1442/4673 777/1593 259/530 P ccG/ccA rs889406537 1 NA 1 NTNG2 HGNC HGNC:14288 protein_coding YES CCDS6946.1 ENSP00000376921 Q96CW9.165 UPI0000367698 NM_032536.4 3/8 Gene3D:2.10.25.10,Gene3D:2.60.120.1490,PDB-ENSP_mappings:3tbd.A,PDB-ENSP_mappings:3zyg.A,PDB-ENSP_mappings:3zyg.B,PDB-ENSP_mappings:3zyi.B,Pfam:PF00055,PROSITE_profiles:PS51117,PANTHER:PTHR10574,PANTHER:PTHR10574:SF27,SMART:SM00136 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . CGG . 7870.6 8.1e-06 NA NA NA 0.0001109 NA NA NA NA 132198529 DDX31 64794 . GRCh38 chr9 132630353 132630353 + Silent SNP G G A rs768329211 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1857C>T p.Thr619= p.T619= ENST00000372159 16/20 NA NA NA NA NA NA DDX31,synonymous_variant,p.Thr619=,ENST00000372159,NM_001322340.1,NM_022779.8,NM_001322341.2,NM_001322342.1,NM_001322343.1;DDX31,synonymous_variant,p.Thr619=,ENST00000372153,;DDX31,synonymous_variant,p.Thr514=,ENST00000438527,; A ENSG00000125485 ENST00000372159 Transcript synonymous_variant 2009/4577 1857/2556 619/851 T acC/acT rs768329211,COSV100936569 1 NA -1 DDX31 HGNC HGNC:16715 protein_coding YES CCDS6951.1 ENSP00000361232 Q9H8H2.161 UPI00000736CA NM_001322340.1,NM_022779.8,NM_001322341.2,NM_001322342.1,NM_001322343.1 16/20 PROSITE_profiles:PS51194,CDD:cd18787,PANTHER:PTHR24031,PANTHER:PTHR24031:SF566,Gene3D:3.40.50.300,Pfam:PF00271,SMART:SM00490,Superfamily:SSF52540 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA LOW 1 SNV 1 NA 0,1 NA NA . CGG . 4549.6 5.582e-05 NA NA NA NA NA 6.155e-05 0.0001637 0.000197 132630353 GTF3C5 9328 . GRCh38 chr9 133056875 133056875 + Missense_Mutation SNP A A G rs146635347 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1381A>G p.Met461Val p.M461V ENST00000372108 11/12 NA NA NA NA NA NA GTF3C5,missense_variant,p.Met461Val,ENST00000372108,NM_001122823.2;GTF3C5,missense_variant,p.Met454Val,ENST00000372097,NM_012087.4;GTF3C5,missense_variant,p.Met280Val,ENST00000372099,NM_001286709.1;GTF3C5,missense_variant,p.Met392Val,ENST00000342018,;GTF3C5,downstream_gene_variant,,ENST00000435745,;GTF3C5,downstream_gene_variant,,ENST00000439697,;GTF3C5,downstream_gene_variant,,ENST00000440319,;MIR6877,downstream_gene_variant,,ENST00000620452,;GTF3C5,non_coding_transcript_exon_variant,,ENST00000489842,;GTF3C5,downstream_gene_variant,,ENST00000461871,; G ENSG00000148308 ENST00000372108 Transcript missense_variant 1389/2110 1381/1581 461/526 M/V Atg/Gtg rs146635347 1 NA 1 GTF3C5 HGNC HGNC:4668 protein_coding YES CCDS48050.1 ENSP00000361180 Q9Y5Q8.159 UPI000046FE5A NM_001122823.2 tolerated(0.15) probably_damaging(0.925) 11/12 PANTHER:PTHR13230,PANTHER:PTHR13230:SF5 NA NA NA NA NA NA NA 0.000227 NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CAT . 2907.6 8.147e-06 6.263e-05 NA NA NA NA 8.95e-06 NA NA 133056875 OBP2B 29989 . GRCh38 chr9 133205359 133205359 + Silent SNP A A G rs1052517 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.633T>C p.Pro211= p.P211= ENST00000372032 8/8 NA NA NA NA NA NA OBP2B,synonymous_variant,p.Pro211=,ENST00000372032,;OBP2B,3_prime_UTR_variant,,ENST00000618116,NM_001288987.1;OBP2B,3_prime_UTR_variant,,ENST00000372034,NM_014581.3;OBP2B,non_coding_transcript_exon_variant,,ENST00000461961,;OBP2B,3_prime_UTR_variant,,ENST00000473737,; G ENSG00000171102 ENST00000372032 Transcript synonymous_variant 661/702 633/663 211/220 P ccT/ccC rs1052517 1 NA -1 OBP2B HGNC HGNC:23381 protein_coding YES ENSP00000361102 C9J395.66 UPI0004E4CBE6 8/8 MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA 0.7927 0.8458 NA 0.6369 0.825 0.5828 NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . CAG . 4000.03 NA NA NA NA NA NA NA NA NA 133205359 ADAMTSL2 9719 . GRCh38 chr9 133555651 133555651 + Missense_Mutation SNP C C T NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1697C>T p.Ala566Val p.A566V ENST00000393061 11/19 NA NA NA NA NA NA ADAMTSL2,missense_variant,p.Ala566Val,ENST00000393061,;ADAMTSL2,missense_variant,p.Ala457Val,ENST00000354484,NM_001145320.2;ADAMTSL2,missense_variant,p.Ala457Val,ENST00000651351,NM_014694.4;ADAMTSL2,missense_variant,p.Ala457Val,ENST00000393060,; T ENSG00000197859 ENST00000393061 Transcript missense_variant 2129/4270 1697/3183 566/1060 A/V gCc/gTc COSV63204327 1 NA 1 ADAMTSL2 HGNC HGNC:14631 protein_coding YES ENSP00000376781 B1B0D4.85 UPI0000E5AFD2 tolerated(0.25) benign(0) 11/19 PANTHER:PTHR13723,PANTHER:PTHR13723:SF147 NA NA NA NA NA NA NA NA NA 1 NA NA NA NA MODERATE 1 SNV 1 NA 1 NA 1 . GCC . 8187.6 NA NA NA NA NA NA NA NA NA 133555651 ADAMTSL2 9719 . GRCh38 chr9 133555922 133555922 + Silent SNP C C T rs7868941 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1968C>T p.His656= p.H656= ENST00000393061 11/19 NA NA NA NA NA NA ADAMTSL2,synonymous_variant,p.His656=,ENST00000393061,;ADAMTSL2,synonymous_variant,p.His547=,ENST00000354484,NM_001145320.2;ADAMTSL2,synonymous_variant,p.His547=,ENST00000651351,NM_014694.4;ADAMTSL2,synonymous_variant,p.His547=,ENST00000393060,; T ENSG00000197859 ENST00000393061 Transcript synonymous_variant 2400/4270 1968/3183 656/1060 H caC/caT rs7868941 1 NA 1 ADAMTSL2 HGNC HGNC:14631 protein_coding YES ENSP00000376781 B1B0D4.85 UPI0000E5AFD2 11/19 PANTHER:PTHR13723,PANTHER:PTHR13723:SF147 NA NA NA NA NA NA NA NA NA uncertain_significance NA NA NA NA LOW 1 SNV 1 NA 1 NA 1 . ACA . 5136.6 NA NA NA NA NA NA NA NA NA 133555922 ADAMTSL2 9719 . GRCh38 chr9 133568420 133568420 + Silent SNP C C T rs534165083 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2349C>T p.Pro783= p.P783= ENST00000393061 14/19 NA NA NA NA NA NA ADAMTSL2,synonymous_variant,p.Pro783=,ENST00000393061,;ADAMTSL2,synonymous_variant,p.Pro674=,ENST00000354484,NM_001145320.2;ADAMTSL2,synonymous_variant,p.Pro674=,ENST00000651351,NM_014694.4;ADAMTSL2,synonymous_variant,p.Pro674=,ENST00000393060,; T ENSG00000197859 ENST00000393061 Transcript synonymous_variant 2781/4270 2349/3183 783/1060 P ccC/ccT rs534165083 1 NA 1 ADAMTSL2 HGNC HGNC:14631 protein_coding YES ENSP00000376781 B1B0D4.85 UPI0000E5AFD2 14/19 Gene3D:2.20.100.10,Pfam:PF19030,PROSITE_profiles:PS50092,PANTHER:PTHR13723,PANTHER:PTHR13723:SF147,SMART:SM00209,Superfamily:SSF82895 NA NA NA NA NA NA NA NA NA uncertain_significance NA NA NA NA LOW 1 SNV 1 NA 1 NA 1 . CCG . 8487.6 NA NA NA NA NA NA NA NA NA 133568420 ADAMTSL2 9719 . GRCh38 chr9 133569476 133569476 + Silent SNP A A G rs1064975 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2640A>G p.Val880= p.V880= ENST00000393061 16/19 NA NA NA NA NA NA ADAMTSL2,synonymous_variant,p.Val880=,ENST00000393061,;ADAMTSL2,synonymous_variant,p.Val771=,ENST00000354484,NM_001145320.2;ADAMTSL2,synonymous_variant,p.Val771=,ENST00000651351,NM_014694.4;ADAMTSL2,synonymous_variant,p.Val771=,ENST00000393060,;,regulatory_region_variant,,ENSR00000896943,; G ENSG00000197859 ENST00000393061 Transcript synonymous_variant 3072/4270 2640/3183 880/1060 V gtA/gtG rs1064975,COSV63204110,COSV63206113 1 NA 1 ADAMTSL2 HGNC HGNC:14631 protein_coding YES ENSP00000376781 B1B0D4.85 UPI0000E5AFD2 16/19 Gene3D:2.20.100.10,Pfam:PF19030,PROSITE_profiles:PS50092,PANTHER:PTHR13723,PANTHER:PTHR13723:SF147,SMART:SM00209,Superfamily:SSF82895 NA NA NA NA NA NA NA NA NA uncertain_significance 0,1,1 NA NA NA NA LOW 1 SNV 1 NA 1,1,1 NA 1 . TAG . 4451.6 NA NA NA NA NA NA NA NA NA 133569476 ADAMTSL2 9719 . GRCh38 chr9 133573863 133573863 + Silent SNP G G A rs62637566 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2940G>A p.Val980= p.V980= ENST00000393061 18/19 NA NA NA NA NA NA ADAMTSL2,synonymous_variant,p.Val980=,ENST00000393061,;ADAMTSL2,synonymous_variant,p.Val871=,ENST00000354484,NM_001145320.2;ADAMTSL2,synonymous_variant,p.Val871=,ENST00000651351,NM_014694.4;ADAMTSL2,synonymous_variant,p.Val871=,ENST00000393060,;FAM163B,downstream_gene_variant,,ENST00000356873,;FAM163B,downstream_gene_variant,,ENST00000496132,NM_001371529.1;FAM163B,downstream_gene_variant,,ENST00000673969,NM_001080515.3; A ENSG00000197859 ENST00000393061 Transcript synonymous_variant 3372/4270 2940/3183 980/1060 V gtG/gtA rs62637566 1 NA 1 ADAMTSL2 HGNC HGNC:14631 protein_coding YES ENSP00000376781 B1B0D4.85 UPI0000E5AFD2 18/19 Gene3D:2.20.100.10,Pfam:PF19030,PROSITE_profiles:PS50092,PANTHER:PTHR13723,PANTHER:PTHR13723:SF147,SMART:SM00209,Superfamily:SSF82895 NA NA NA NA NA NA NA NA NA uncertain_significance NA NA NA NA LOW 1 SNV 1 NA 1 NA 1 . TGG . 3160.6 NA NA NA NA NA NA NA NA NA 133573863 BRD3 8019 . GRCh38 chr9 134041802 134041802 + Silent SNP C C T rs1473697207 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1365G>A p.Ser455= p.S455= ENST00000303407 8/12 NA NA NA NA NA NA BRD3,synonymous_variant,p.Ser455=,ENST00000303407,NM_007371.4;BRD3,synonymous_variant,p.Ser455=,ENST00000371834,;BRD3,upstream_gene_variant,,ENST00000473349,; T ENSG00000169925 ENST00000303407 Transcript synonymous_variant 1560/5661 1365/2181 455/726 S tcG/tcA rs1473697207,COSV100325745 1 NA -1 BRD3 HGNC HGNC:1104 protein_coding YES CCDS6980.1 ENSP00000305918 Q15059.185 A0A024R8H6.43 UPI0000126ACD NM_007371.4 8/12 PANTHER:PTHR22880,PANTHER:PTHR22880:SF20,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA LOW 1 SNV 1 NA 0,1 NA 1 . CCG . 1517.6 8.087e-06 NA NA NA 0.0001093 NA NA NA NA 134041802 WDR5 11091 . GRCh38 chr9 134154476 134154476 + Frame_Shift_Del DEL C C - novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.648del p.Val217CysfsTer4 p.V217Cfs*4 ENST00000358625 10/14 NA NA NA NA NA NA WDR5,frameshift_variant,p.Val217CysfsTer4,ENST00000358625,NM_017588.3,NM_052821.3; - ENSG00000196363 ENST00000358625 Transcript frameshift_variant 813/3151 642/1005 214/334 N/X aaC/aa 1 NA 1 WDR5 HGNC HGNC:12757 protein_coding YES CCDS6981.1 ENSP00000351446 P61964.183 UPI00000040F5 NM_017588.3,NM_052821.3 10/14 Gene3D:2.130.10.10,PDB-ENSP_mappings:2cnx.A,PDB-ENSP_mappings:2co0.A,PDB-ENSP_mappings:2co0.C,PDB-ENSP_mappings:2g99.A,PDB-ENSP_mappings:2g99.B,PDB-ENSP_mappings:2g9a.A,PDB-ENSP_mappings:2gnq.A,PDB-ENSP_mappings:2h13.A,PDB-ENSP_mappings:2h14.A,PDB-ENSP_mappings:2h68.A,PDB-ENSP_mappings:2h68.B,PDB-ENSP_mappings:2h6k.A,PDB-ENSP_mappings:2h6k.B,PDB-ENSP_mappings:2h6n.A,PDB-ENSP_mappings:2h6n.B,PDB-ENSP_mappings:2h6q.A,PDB-ENSP_mappings:2h6q.B,PDB-ENSP_mappings:2h9l.A,PDB-ENSP_mappings:2h9m.A,PDB-ENSP_mappings:2h9m.C,PDB-ENSP_mappings:2h9n.A,PDB-ENSP_mappings:2h9n.C,PDB-ENSP_mappings:2h9p.A,PDB-ENSP_mappings:2o9k.A,PDB-ENSP_mappings:2o9k.C,PDB-ENSP_mappings:3eg6.A,PDB-ENSP_mappings:3emh.A,PDB-ENSP_mappings:3mxx.A,PDB-ENSP_mappings:3n0d.A,PDB-ENSP_mappings:3n0e.A,PDB-ENSP_mappings:3p4f.A,PDB-ENSP_mappings:3psl.A,PDB-ENSP_mappings:3psl.B,PDB-ENSP_mappings:3smr.A,PDB-ENSP_mappings:3smr.B,PDB-ENSP_mappings:3smr.C,PDB-ENSP_mappings:3smr.D,PDB-ENSP_mappings:3ur4.A,PDB-ENSP_mappings:3ur4.B,PDB-ENSP_mappings:3uvk.A,PDB-ENSP_mappings:3uvl.A,PDB-ENSP_mappings:3uvm.A,PDB-ENSP_mappings:3uvn.A,PDB-ENSP_mappings:3uvn.C,PDB-ENSP_mappings:3uvo.A,PDB-ENSP_mappings:4a7j.A,PDB-ENSP_mappings:4cy1.A,PDB-ENSP_mappings:4cy1.B,PDB-ENSP_mappings:4cy2.A,PDB-ENSP_mappings:4erq.A,PDB-ENSP_mappings:4erq.B,PDB-ENSP_mappings:4erq.C,PDB-ENSP_mappings:4ery.A,PDB-ENSP_mappings:4erz.A,PDB-ENSP_mappings:4erz.B,PDB-ENSP_mappings:4erz.C,PDB-ENSP_mappings:4es0.A,PDB-ENSP_mappings:4esg.A,PDB-ENSP_mappings:4esg.B,PDB-ENSP_mappings:4ewr.A,PDB-ENSP_mappings:4gm3.A,PDB-ENSP_mappings:4gm3.B,PDB-ENSP_mappings:4gm3.C,PDB-ENSP_mappings:4gm3.D,PDB-ENSP_mappings:4gm3.E,PDB-ENSP_mappings:4gm3.F,PDB-ENSP_mappings:4gm3.G,PDB-ENSP_mappings:4gm3.H,PDB-ENSP_mappings:4gm8.A,PDB-ENSP_mappings:4gm8.B,PDB-ENSP_mappings:4gm8.C,PDB-ENSP_mappings:4gm8.D,PDB-ENSP_mappings:4gm9.A,PDB-ENSP_mappings:4gm9.B,PDB-ENSP_mappings:4gmb.A,PDB-ENSP_mappings:4ia9.A,PDB-ENSP_mappings:4o45.A,PDB-ENSP_mappings:4ql1.A,PDB-ENSP_mappings:4ql1.B,PDB-ENSP_mappings:4qqe.A,PDB-ENSP_mappings:4y7r.A,PDB-ENSP_mappings:5eal.A,PDB-ENSP_mappings:5eal.B,PDB-ENSP_mappings:5eam.A,PDB-ENSP_mappings:5eam.B,PDB-ENSP_mappings:5eap.A,PDB-ENSP_mappings:5ear.A,PDB-ENSP_mappings:5ear.B,PDB-ENSP_mappings:5m23.A,PDB-ENSP_mappings:5m25.A,PDB-ENSP_mappings:5sxm.A,PDB-ENSP_mappings:5sxm.B,PDB-ENSP_mappings:5vfc.A,PDB-ENSP_mappings:6byn.W,PDB-ENSP_mappings:6d9x.A,PDB-ENSP_mappings:6dai.A,PDB-ENSP_mappings:6dak.A,PDB-ENSP_mappings:6dar.A,PDB-ENSP_mappings:6das.A,PDB-ENSP_mappings:6das.B,PDB-ENSP_mappings:6dy7.A,PDB-ENSP_mappings:6dya.A,PDB-ENSP_mappings:6e1y.A,PDB-ENSP_mappings:6e1y.B,PDB-ENSP_mappings:6e1z.A,PDB-ENSP_mappings:6e1z.B,PDB-ENSP_mappings:6e22.A,PDB-ENSP_mappings:6e22.B,PDB-ENSP_mappings:6e23.A,PDB-ENSP_mappings:6e23.B,PDB-ENSP_mappings:6iam.A,PDB-ENSP_mappings:6kiu.R,PDB-ENSP_mappings:6kiv.R,PDB-ENSP_mappings:6kiw.R,PDB-ENSP_mappings:6kix.R,PDB-ENSP_mappings:6kiz.R,PDB-ENSP_mappings:6ofz.A,PDB-ENSP_mappings:6oi0.A,PDB-ENSP_mappings:6oi1.A,PDB-ENSP_mappings:6oi2.A,PDB-ENSP_mappings:6oi3.A,PDB-ENSP_mappings:6pg3.A,PDB-ENSP_mappings:6pg3.B,PDB-ENSP_mappings:6pg4.A,PDB-ENSP_mappings:6pg5.A,PDB-ENSP_mappings:6pg6.A,PDB-ENSP_mappings:6pg6.B,PDB-ENSP_mappings:6pg7.A,PDB-ENSP_mappings:6pg8.A,PDB-ENSP_mappings:6pg8.B,PDB-ENSP_mappings:6pg8.C,PDB-ENSP_mappings:6pg8.D,PDB-ENSP_mappings:6pg9.A,PDB-ENSP_mappings:6pg9.B,PDB-ENSP_mappings:6pga.A,PDB-ENSP_mappings:6pgb.A,PDB-ENSP_mappings:6pgc.A,PDB-ENSP_mappings:6pgd.A,PDB-ENSP_mappings:6pge.A,PDB-ENSP_mappings:6pgf.A,PDB-ENSP_mappings:6pwv.B,PDB-ENSP_mappings:6pww.B,PDB-ENSP_mappings:6u5m.A,PDB-ENSP_mappings:6u5m.B,PDB-ENSP_mappings:6u5y.A,PDB-ENSP_mappings:6u5y.B,PDB-ENSP_mappings:6u6w.A,PDB-ENSP_mappings:6u6w.B,PDB-ENSP_mappings:6u80.A,PDB-ENSP_mappings:6u80.B,PDB-ENSP_mappings:6u8b.A,PDB-ENSP_mappings:6u8b.B,PDB-ENSP_mappings:6u8l.A,PDB-ENSP_mappings:6u8l.B,PDB-ENSP_mappings:6u8o.A,PDB-ENSP_mappings:6ucs.A,PDB-ENSP_mappings:6ucs.B,PDB-ENSP_mappings:6ufx.A,PDB-ENSP_mappings:6uhy.A,PDB-ENSP_mappings:6uhy.B,PDB-ENSP_mappings:6uhz.A,PDB-ENSP_mappings:6uhz.B,PDB-ENSP_mappings:6uif.A,PDB-ENSP_mappings:6uif.B,PDB-ENSP_mappings:6uik.A,PDB-ENSP_mappings:6uik.B,PDB-ENSP_mappings:6uj4.A,PDB-ENSP_mappings:6uj4.B,PDB-ENSP_mappings:6ujh.A,PDB-ENSP_mappings:6ujh.B,PDB-ENSP_mappings:6ujj.A,PDB-ENSP_mappings:6ujl.A,PDB-ENSP_mappings:6uoz.A,PDB-ENSP_mappings:6uoz.B,Pfam:PF00400,PIRSF:PIRSF002394,PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,PANTHER:PTHR22847,PANTHER:PTHR22847:SF516,SMART:SM00320,Superfamily:SSF50978,CDD:cd00200 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 6 NA NA . AACC . 4944.6 NA NA NA NA NA NA NA NA NA 134154475 COL5A1 1289 . GRCh38 chr9 134642236 134642236 + Missense_Mutation SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.49G>A p.Ala17Thr p.A17T ENST00000371817 1/66 NA NA NA NA NA NA COL5A1,missense_variant,p.Ala17Thr,ENST00000371817,NM_000093.5;COL5A1,missense_variant,p.Ala17Thr,ENST00000618395,NM_001278074.1;,regulatory_region_variant,,ENSR00000242807,;,TF_binding_site_variant,,ENSM00189577921,; A ENSG00000130635 ENST00000371817 Transcript missense_variant 434/8442 49/5517 17/1838 A/T Gcc/Acc 1 NA 1 COL5A1 HGNC HGNC:2209 protein_coding YES CCDS6982.1 ENSP00000360882 P20908.216 A0A024R8E5.45 UPI0000210EE3 NM_000093.5 tolerated(0.96) benign(0.001) 1/66 Cleavage_site_(Signalp):SignalP-noTM,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . CGC . 716.6 NA NA NA NA NA NA NA NA NA 134642236 CCDC187 399693 . GRCh38 chr9 136286167 136286167 + Missense_Mutation SNP G G C rs879218719 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2751C>G p.Asp917Glu p.D917E ENST00000638797 8/26 NA NA NA NA NA NA CCDC187,missense_variant,p.Asp917Glu,ENST00000638797,NM_001378188.1;CCDC187,missense_variant,p.Asp917Glu,ENST00000624277,;CCDC187,missense_variant,p.Asp819Glu,ENST00000569961,NM_001291516.1;CCDC187,missense_variant,p.Asp917Glu,ENST00000563590,; C ENSG00000260220 ENST00000638797 Transcript missense_variant 3015/10119 2751/6234 917/2077 D/E gaC/gaG rs879218719 1 NA -1 CCDC187 HGNC HGNC:30942 protein_coding YES ENSP00000492326 A0A1W2PQX5.14 UPI00097BA6FA NM_001378188.1 deleterious(0.04) probably_damaging(0.926) 8/26 PANTHER:PTHR13958,PANTHER:PTHR13958:SF5 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . CGT . 13600.03 NA NA NA NA NA NA NA NA NA 136286167 CCDC187 399693 . GRCh38 chr9 136286366 136286366 + Missense_Mutation SNP A A G rs36173623 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2552T>C p.Leu851Pro p.L851P ENST00000638797 8/26 NA NA NA NA NA NA CCDC187,missense_variant,p.Leu851Pro,ENST00000638797,NM_001378188.1;CCDC187,missense_variant,p.Leu851Pro,ENST00000624277,;CCDC187,missense_variant,p.Leu753Pro,ENST00000569961,NM_001291516.1;CCDC187,missense_variant,p.Leu851Pro,ENST00000563590,; G ENSG00000260220 ENST00000638797 Transcript missense_variant 2816/10119 2552/6234 851/2077 L/P cTg/cCg rs36173623 1 NA -1 CCDC187 HGNC HGNC:30942 protein_coding YES ENSP00000492326 A0A1W2PQX5.14 UPI00097BA6FA NM_001378188.1 tolerated(0.25) benign(0.006) 8/26 Coiled-coils_(Ncoils):Coil,PANTHER:PTHR13958,PANTHER:PTHR13958:SF5 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . CAG . 14575.03 NA NA NA NA NA NA NA NA NA 136286366 CCDC187 399693 . GRCh38 chr9 136286383 136286383 + Silent SNP C C A rs878980606 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2535G>T p.Leu845= p.L845= ENST00000638797 8/26 NA NA NA NA NA NA CCDC187,synonymous_variant,p.Leu845=,ENST00000638797,NM_001378188.1;CCDC187,synonymous_variant,p.Leu845=,ENST00000624277,;CCDC187,synonymous_variant,p.Leu747=,ENST00000569961,NM_001291516.1;CCDC187,synonymous_variant,p.Leu845=,ENST00000563590,; A ENSG00000260220 ENST00000638797 Transcript synonymous_variant 2799/10119 2535/6234 845/2077 L ctG/ctT rs878980606 1 NA -1 CCDC187 HGNC HGNC:30942 protein_coding YES ENSP00000492326 A0A1W2PQX5.14 UPI00097BA6FA NM_001378188.1 8/26 Coiled-coils_(Ncoils):Coil,PANTHER:PTHR13958,PANTHER:PTHR13958:SF5 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . GCA . 14815.03 NA NA NA NA NA NA NA NA NA 136286383 CCDC187 399693 . GRCh38 chr9 136286509 136286509 + Silent SNP T T C rs878921187 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2409A>G p.Pro803= p.P803= ENST00000638797 8/26 NA NA NA NA NA NA CCDC187,synonymous_variant,p.Pro803=,ENST00000638797,NM_001378188.1;CCDC187,synonymous_variant,p.Pro803=,ENST00000624277,;CCDC187,synonymous_variant,p.Pro705=,ENST00000569961,NM_001291516.1;CCDC187,synonymous_variant,p.Pro803=,ENST00000563590,; C ENSG00000260220 ENST00000638797 Transcript synonymous_variant 2673/10119 2409/6234 803/2077 P ccA/ccG rs878921187 1 NA -1 CCDC187 HGNC HGNC:30942 protein_coding YES ENSP00000492326 A0A1W2PQX5.14 UPI00097BA6FA NM_001378188.1 8/26 PANTHER:PTHR13958,PANTHER:PTHR13958:SF5 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . TTG . 10532.03 NA NA NA NA NA NA NA NA NA 136286509 CCDC187 399693 . GRCh38 chr9 136291005 136291005 + Silent SNP G G T novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1608C>A p.Ala536= p.A536= ENST00000638797 6/26 NA NA NA NA NA NA CCDC187,synonymous_variant,p.Ala536=,ENST00000638797,NM_001378188.1;CCDC187,synonymous_variant,p.Ala536=,ENST00000624277,;CCDC187,synonymous_variant,p.Ala438=,ENST00000569961,NM_001291516.1;CCDC187,downstream_gene_variant,,ENST00000565954,;CCDC187,synonymous_variant,p.Ala536=,ENST00000563590,; T ENSG00000260220 ENST00000638797 Transcript synonymous_variant 1872/10119 1608/6234 536/2077 A gcC/gcA 1 NA -1 CCDC187 HGNC HGNC:30942 protein_coding YES ENSP00000492326 A0A1W2PQX5.14 UPI00097BA6FA NM_001378188.1 6/26 PANTHER:PTHR13958,PANTHER:PTHR13958:SF5,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . TGG . 3101.6 NA NA NA NA NA NA NA NA NA 136291005 CCDC187 399693 . GRCh38 chr9 136291358 136291358 + Missense_Mutation SNP C C T rs943284509 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1255G>A p.Ala419Thr p.A419T ENST00000638797 6/26 NA NA NA NA NA NA CCDC187,missense_variant,p.Ala419Thr,ENST00000638797,NM_001378188.1;CCDC187,missense_variant,p.Ala419Thr,ENST00000624277,;CCDC187,missense_variant,p.Ala321Thr,ENST00000569961,NM_001291516.1;CCDC187,downstream_gene_variant,,ENST00000565954,;CCDC187,missense_variant,p.Ala419Thr,ENST00000563590,; T ENSG00000260220 ENST00000638797 Transcript missense_variant 1519/10119 1255/6234 419/2077 A/T Gcc/Acc rs943284509 1 NA -1 CCDC187 HGNC HGNC:30942 protein_coding YES ENSP00000492326 A0A1W2PQX5.14 UPI00097BA6FA NM_001378188.1 tolerated(0.36) possibly_damaging(0.701) 6/26 PANTHER:PTHR13958,PANTHER:PTHR13958:SF5,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . GCA . 3439.6 NA NA NA NA NA NA NA NA NA 136291358 CCDC187 399693 . GRCh38 chr9 136291376 136291376 + Missense_Mutation SNP A A G rs879046307 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1237T>C p.Cys413Arg p.C413R ENST00000638797 6/26 NA NA NA NA NA NA CCDC187,missense_variant,p.Cys413Arg,ENST00000638797,NM_001378188.1;CCDC187,missense_variant,p.Cys413Arg,ENST00000624277,;CCDC187,missense_variant,p.Cys315Arg,ENST00000569961,NM_001291516.1;CCDC187,downstream_gene_variant,,ENST00000565954,;CCDC187,missense_variant,p.Cys413Arg,ENST00000563590,; G ENSG00000260220 ENST00000638797 Transcript missense_variant 1501/10119 1237/6234 413/2077 C/R Tgc/Cgc rs879046307 1 NA -1 CCDC187 HGNC HGNC:30942 protein_coding YES ENSP00000492326 A0A1W2PQX5.14 UPI00097BA6FA NM_001378188.1 tolerated(0.31) benign(0.186) 6/26 PANTHER:PTHR13958,PANTHER:PTHR13958:SF5,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . CAG . 4204.6 NA NA NA NA NA NA NA NA NA 136291376 CCDC187 399693 . GRCh38 chr9 136291574 136291574 + Missense_Mutation SNP A A G rs36134869 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1039T>C p.Tyr347His p.Y347H ENST00000638797 6/26 NA NA NA NA NA NA CCDC187,missense_variant,p.Tyr347His,ENST00000638797,NM_001378188.1;CCDC187,missense_variant,p.Tyr347His,ENST00000624277,;CCDC187,missense_variant,p.Tyr249His,ENST00000569961,NM_001291516.1;CCDC187,downstream_gene_variant,,ENST00000565954,;CCDC187,missense_variant,p.Tyr347His,ENST00000563590,;,regulatory_region_variant,,ENSR00000898021,;,TF_binding_site_variant,,ENSM00205737320,; G ENSG00000260220 ENST00000638797 Transcript missense_variant 1303/10119 1039/6234 347/2077 Y/H Tac/Cac rs36134869 1 NA -1 CCDC187 HGNC HGNC:30942 protein_coding YES ENSP00000492326 A0A1W2PQX5.14 UPI00097BA6FA NM_001378188.1 tolerated(0.62) benign(0) 6/26 PANTHER:PTHR13958,PANTHER:PTHR13958:SF5 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . TAG . 11740.03 NA NA NA NA NA NA NA NA NA 136291574 CCDC187 399693 . GRCh38 chr9 136302868 136302868 + Missense_Mutation SNP A A G rs961756758 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.569T>C p.Met190Thr p.M190T ENST00000638797 2/26 NA NA NA NA NA NA CCDC187,missense_variant,p.Met190Thr,ENST00000638797,NM_001378188.1;CCDC187,missense_variant,p.Met190Thr,ENST00000624277,;CCDC187,missense_variant,p.Met92Thr,ENST00000569961,NM_001291516.1;CCDC187,non_coding_transcript_exon_variant,,ENST00000565954,;CCDC187,missense_variant,p.Met190Thr,ENST00000563590,; G ENSG00000260220 ENST00000638797 Transcript missense_variant 833/10119 569/6234 190/2077 M/T aTg/aCg rs961756758 1 NA -1 CCDC187 HGNC HGNC:30942 protein_coding YES ENSP00000492326 A0A1W2PQX5.14 UPI00097BA6FA NM_001378188.1 tolerated(0.26) benign(0) 2/26 PANTHER:PTHR13958,PANTHER:PTHR13958:SF5 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . CAT . 4372.6 NA NA NA NA NA NA NA NA NA 136302868 CCDC187 399693 . GRCh38 chr9 136302874 136302874 + Missense_Mutation SNP G G A rs994265690 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.563C>T p.Thr188Met p.T188M ENST00000638797 2/26 NA NA NA NA NA NA CCDC187,missense_variant,p.Thr188Met,ENST00000638797,NM_001378188.1;CCDC187,missense_variant,p.Thr188Met,ENST00000624277,;CCDC187,missense_variant,p.Thr90Met,ENST00000569961,NM_001291516.1;CCDC187,non_coding_transcript_exon_variant,,ENST00000565954,;CCDC187,missense_variant,p.Thr188Met,ENST00000563590,; A ENSG00000260220 ENST00000638797 Transcript missense_variant 827/10119 563/6234 188/2077 T/M aCg/aTg rs994265690 1 NA -1 CCDC187 HGNC HGNC:30942 protein_coding YES ENSP00000492326 A0A1W2PQX5.14 UPI00097BA6FA NM_001378188.1 tolerated(0.06) benign(0.368) 2/26 PANTHER:PTHR13958,PANTHER:PTHR13958:SF5 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . CGT . 4539.6 NA NA NA NA NA NA NA NA NA 136302874 CCDC187 399693 . GRCh38 chr9 136303170 136303170 + Silent SNP T T G rs937125618 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.267A>C p.Gly89= p.G89= ENST00000638797 2/26 NA NA NA NA NA NA CCDC187,synonymous_variant,p.Gly89=,ENST00000638797,NM_001378188.1;CCDC187,synonymous_variant,p.Gly89=,ENST00000624277,;CCDC187,5_prime_UTR_variant,,ENST00000569961,NM_001291516.1;CCDC187,non_coding_transcript_exon_variant,,ENST00000565954,;CCDC187,synonymous_variant,p.Gly89=,ENST00000563590,;,regulatory_region_variant,,ENSR00000898025,; G ENSG00000260220 ENST00000638797 Transcript synonymous_variant 531/10119 267/6234 89/2077 G ggA/ggC rs937125618 1 NA -1 CCDC187 HGNC HGNC:30942 protein_coding YES ENSP00000492326 A0A1W2PQX5.14 UPI00097BA6FA NM_001378188.1 2/26 PANTHER:PTHR13958,PANTHER:PTHR13958:SF5,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . GTC . 4189.6 NA NA NA NA NA NA NA NA NA 136303170 GPSM1 26086 . GRCh38 chr9 136340897 136340897 + Missense_Mutation SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1207G>A p.Ala403Thr p.A403T ENST00000354753 9/14 NA NA NA NA NA NA GPSM1,missense_variant,p.Ala371Thr,ENST00000440944,NM_001145638.3;GPSM1,missense_variant,p.Ala403Thr,ENST00000354753,;GPSM1,missense_variant,p.Ala371Thr,ENST00000616132,NM_015597.6; A ENSG00000160360 ENST00000354753 Transcript missense_variant 1231/3533 1207/2124 403/707 A/T Gcc/Acc 1 NA 1 GPSM1 HGNC HGNC:17858 protein_coding YES ENSP00000346797 A0A0A0MRC4.43 UPI0005D02580 deleterious(0) possibly_damaging(0.794) 9/14 Gene3D:1.25.40.10,PANTHER:PTHR45954,PANTHER:PTHR45954:SF2,Superfamily:SSF48452 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . GGC . 1973.6 NA NA NA NA NA NA NA NA NA 136340897 NOTCH1 4851 . GRCh38 chr9 136499207 136499207 + Missense_Mutation SNP G G A rs773137647 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.5987C>T p.Thr1996Met p.T1996M ENST00000651671 32/34 NA NA NA NA NA NA NOTCH1,missense_variant,p.Thr1996Met,ENST00000651671,NM_017617.5;NOTCH1,downstream_gene_variant,,ENST00000494783,;NOTCH1,downstream_gene_variant,,ENST00000645828,; A ENSG00000148400 ENST00000651671 Transcript missense_variant 6249/9568 5987/7668 1996/2555 T/M aCg/aTg rs773137647,COSV53079417 1 NA -1 NOTCH1 HGNC HGNC:7881 protein_coding YES CCDS43905.1 ENSP00000498587 P46531.237 UPI0000210F68 NM_017617.5 deleterious(0) probably_damaging(1) 32/34 Gene3D:1.25.40.20,PIRSF:PIRSF002279,PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,PANTHER:PTHR22804,PANTHER:PTHR22804:SF46,SMART:SM00248,Superfamily:SSF48403 NA NA NA NA NA NA NA NA NA uncertain_significance 0,1 NA NA NA NA MODERATE 1 SNV NA NA 1,1 NA 1 . CGT . 7275.6 1.204e-05 NA NA NA NA NA 2.662e-05 NA NA 136499207 NOTCH1 4851 . GRCh38 chr9 136501851 136501851 + Silent SNP C C T NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.5535G>A p.Gln1845= p.Q1845= ENST00000651671 30/34 NA NA NA NA NA NA NOTCH1,synonymous_variant,p.Gln1845=,ENST00000651671,NM_017617.5;NOTCH1,downstream_gene_variant,,ENST00000494783,;NOTCH1,downstream_gene_variant,,ENST00000645828,; T ENSG00000148400 ENST00000651671 Transcript synonymous_variant 5797/9568 5535/7668 1845/2555 Q caG/caA COSV99484869 1 NA -1 NOTCH1 HGNC HGNC:7881 protein_coding YES CCDS43905.1 ENSP00000498587 P46531.237 UPI0000210F68 NM_017617.5 30/34 PIRSF:PIRSF002279,PANTHER:PTHR22804,PANTHER:PTHR22804:SF46 NA NA NA NA NA NA NA NA NA 1 NA NA NA NA LOW 1 SNV NA NA 1 NA 1 . GCT . 5175.6 NA NA NA NA NA NA NA NA NA 136501851 MAMDC4 158056 . GRCh38 chr9 136857455 136857455 + Missense_Mutation SNP A A T novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2432A>T p.Asn811Ile p.N811I ENST00000445819 20/29 NA NA NA NA NA NA MAMDC4,missense_variant,p.Asn811Ile,ENST00000445819,;MAMDC4,missense_variant,p.Asn732Ile,ENST00000317446,NM_206920.3;EDF1,downstream_gene_variant,,ENST00000224073,NM_001281298.2,NM_001281299.2,NM_003792.4;EDF1,downstream_gene_variant,,ENST00000371649,NM_001281297.2;MAMDC4,non_coding_transcript_exon_variant,,ENST00000485732,;MAMDC4,downstream_gene_variant,,ENST00000481327,;MAMDC4,missense_variant,p.Asn87Ile,ENST00000479475,; T ENSG00000177943 ENST00000445819 Transcript missense_variant 2482/3895 2432/3651 811/1216 N/I aAt/aTt 1 NA 1 MAMDC4 HGNC HGNC:24083 protein_coding YES ENSP00000411339 Q6UXC1.121 UPI0000EE5638 tolerated(0.14) benign(0.036) 20/29 Gene3D:2.60.120.200,PROSITE_profiles:PS50060,PANTHER:PTHR23282,PANTHER:PTHR23282:SF129,Superfamily:SSF49899 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE NA SNV 5 NA NA NA . AAT . 2870.6 NA NA NA NA NA NA NA NA NA 136857455 CYSRT1 375791 . GRCh38 chr9 137226007 137226007 + Missense_Mutation SNP G G A rs1564410269 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.506G>A p.Cys169Tyr p.C169Y ENST00000409414 2/2 NA NA NA NA NA NA CYSRT1,missense_variant,p.Cys169Tyr,ENST00000409414,;CYSRT1,missense_variant,p.Cys129Tyr,ENST00000650725,NM_199001.5;SLC34A3,upstream_gene_variant,,ENST00000361134,NM_080877.2;RNF208,upstream_gene_variant,,ENST00000391553,NM_031297.4;RNF208,upstream_gene_variant,,ENST00000392827,;RNF224,upstream_gene_variant,,ENST00000445101,NM_001190228.2;SLC34A3,upstream_gene_variant,,ENST00000538474,NM_001177317.1;SLC34A3,upstream_gene_variant,,ENST00000673835,NM_001177316.2;SLC34A3,upstream_gene_variant,,ENST00000673865,;SLC34A3,upstream_gene_variant,,ENST00000673953,;,regulatory_region_variant,,ENSR00000898408,; A ENSG00000197191 ENST00000409414 Transcript missense_variant 993/1296 506/555 169/184 C/Y tGc/tAc rs1564410269 1 NA 1 CYSRT1 HGNC HGNC:30529 protein_coding YES CCDS48064.2 ENSP00000386453 B8A4K4.72 UPI000019907B deleterious_low_confidence(0) probably_damaging(0.994) 2/2 Low_complexity_(Seg):seg,PANTHER:PTHR37879,Pfam:PF10631 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . TGC . 3107.6 6.708e-06 NA NA NA NA NA 1.79e-05 NA NA 137226007 SLC34A3 142680 . GRCh38 chr9 137236265 137236265 + Missense_Mutation SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1649C>T p.Ala550Val p.A550V ENST00000538474 13/13 NA NA NA NA NA NA SLC34A3,missense_variant,p.Ala550Val,ENST00000538474,NM_001177317.1;SLC34A3,missense_variant,p.Ala550Val,ENST00000361134,NM_080877.2;SLC34A3,missense_variant,p.Ala550Val,ENST00000673835,NM_001177316.2;SLC34A3,downstream_gene_variant,,ENST00000673865,;SLC34A3,downstream_gene_variant,,ENST00000673953,;,regulatory_region_variant,,ENSR00000338249,;,regulatory_region_variant,,ENSR00000898415,; T ENSG00000198569 ENST00000538474 Transcript missense_variant 1873/2162 1649/1800 550/599 A/V gCc/gTc 1 NA 1 SLC34A3 HGNC HGNC:20305 protein_coding YES CCDS7038.1 ENSP00000442397 Q8N130.136 UPI00004577EA NM_001177317.1 deleterious(0.04) benign(0.26) 13/13 PANTHER:PTHR10010,PANTHER:PTHR10010:SF35,TIGRFAM:TIGR01013 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA 1 . GCC . 1966.6 NA NA NA NA NA NA NA NA NA 137236265 EXD3 54932 . GRCh38 chr9 137307168 137307168 + Silent SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2413C>T p.Leu805= p.L805= ENST00000340951 22/22 NA NA NA NA NA NA EXD3,synonymous_variant,p.Leu805=,ENST00000340951,NM_017820.5;NRARP,upstream_gene_variant,,ENST00000356628,NM_001004354.3;EXD3,3_prime_UTR_variant,,ENST00000491734,;EXD3,non_coding_transcript_exon_variant,,ENST00000487745,; A ENSG00000187609 ENST00000340951 Transcript synonymous_variant 2509/2781 2413/2631 805/876 L Ctg/Ttg 1 NA -1 EXD3 HGNC HGNC:26023 protein_coding YES CCDS48066.1 ENSP00000340474 Q8N9H8.138 UPI00003676BC NM_017820.5 22/22 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . AGC . 3671.6 NA NA NA NA NA NA NA NA NA 137307168 PNPLA7 375775 . GRCh38 chr9 137547594 137547594 + Silent SNP C C T rs755052581 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.96G>A p.Pro32= p.P32= ENST00000406427 2/35 NA NA NA NA NA NA PNPLA7,synonymous_variant,p.Pro32=,ENST00000406427,NM_001098537.3;PNPLA7,intron_variant,,ENST00000277531,NM_152286.5;MRPL41,upstream_gene_variant,,ENST00000371443,NM_032477.3;PNPLA7,non_coding_transcript_exon_variant,,ENST00000434090,;PNPLA7,upstream_gene_variant,,ENST00000491019,; T ENSG00000130653 ENST00000406427 Transcript synonymous_variant 301/4675 96/4029 32/1342 P ccG/ccA rs755052581 1 NA -1 PNPLA7 HGNC HGNC:24768 protein_coding YES CCDS48070.1 ENSP00000384610 Q6ZV29.142 UPI000443805D NM_001098537.3 2/35 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . ACG . 3940.6 2.008e-05 NA 2.894e-05 NA NA NA 8.887e-06 0.0001653 6.534e-05 137547594 TUBB8 643224 . GRCh38 chr10 47476 47476 + Missense_Mutation SNP G G A rs200558688 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.916C>T p.Arg306Cys p.R306C ENST00000568584 4/4 NA NA NA NA NA NA TUBB8,missense_variant,p.Arg272Cys,ENST00000564130,;TUBB8,missense_variant,p.Arg306Cys,ENST00000568584,NM_177987.3;TUBB8,missense_variant,p.Arg269Cys,ENST00000568866,;TUBB8,3_prime_UTR_variant,,ENST00000561967,;TUBB8,downstream_gene_variant,,ENST00000562809,;TUBB8,downstream_gene_variant,,ENST00000563456,;TUBB8,downstream_gene_variant,,ENST00000567466,;AL713922.1,downstream_gene_variant,,ENST00000416477,; A ENSG00000261456 ENST00000568584 Transcript missense_variant 974/1562 916/1335 306/444 R/C Cgt/Tgt rs200558688,COSV59114980 1 NA -1 TUBB8 HGNC HGNC:20773 protein_coding YES CCDS7051.1 ENSP00000456206 Q3ZCM7.135 UPI000007238E NM_177987.3 deleterious_low_confidence(0.03) benign(0.094) 4/4 CDD:cd02187,PANTHER:PTHR11588:SF331,PANTHER:PTHR11588,Gene3D:3.30.1330.20,Pfam:PF03953,SMART:SM00865,Superfamily:SSF55307 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 1 NA 0,1 NA 1 . CGG . 843.6 2.46e-05 NA NA NA NA 0.0001881 1.813e-05 NA NA 47476 PFKFB3 5209 . GRCh38 chr10 6203264 6203264 + Missense_Mutation SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4C>T p.Pro2Ser p.P2S ENST00000640683 1/15 NA NA NA NA NA NA PFKFB3,missense_variant,p.Pro2Ser,ENST00000360521,NM_001314063.2;PFKFB3,missense_variant,p.Pro2Ser,ENST00000379775,NM_001323017.2,NM_004566.4;PFKFB3,missense_variant,p.Pro2Ser,ENST00000640683,NM_001363545.2;PFKFB3,missense_variant,p.Pro2Ser,ENST00000379785,;PFKFB3,missense_variant,p.Pro2Ser,ENST00000317350,;PFKFB3,missense_variant,p.Pro2Ser,ENST00000626882,;PFKFB3,missense_variant,p.Pro2Ser,ENST00000625260,;PFKFB3,intron_variant,,ENST00000379789,NM_001323016.2,NM_001145443.3;PFKFB3,intron_variant,,ENST00000536985,NM_001282630.2;PFKFB3,intron_variant,,ENST00000639949,;AL157395.1,upstream_gene_variant,,ENST00000427630,;PFKFB3,missense_variant,p.Pro2Ser,ENST00000467491,;PFKFB3,missense_variant,p.Pro2Ser,ENST00000461744,;PFKFB3,missense_variant,p.Pro2Ser,ENST00000490474,;PFKFB3,missense_variant,p.Pro2Ser,ENST00000477914,;,regulatory_region_variant,,ENSR00000023970,; T ENSG00000170525 ENST00000640683 Transcript missense_variant 333/2311 4/1707 2/568 P/S Ccg/Tcg 1 NA 1 PFKFB3 HGNC HGNC:8874 protein_coding YES CCDS86068.1 ENSP00000492001 A0A1W2PR17.22 UPI0007DC81EF NM_001363545.2 possibly_damaging(0.897) 1/15 PANTHER:PTHR10606,PANTHER:PTHR10606:SF41 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE NA SNV 5 NA NA NA . GCC . 201.6 NA NA NA NA NA NA NA NA NA 6203264 PFKFB3 5209 . GRCh38 chr10 6219674 6219674 + Missense_Mutation SNP G G A rs757448210 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.604G>A p.Asp202Asn p.D202N ENST00000640683 7/15 NA NA NA NA NA NA PFKFB3,missense_variant,p.Asp202Asn,ENST00000360521,NM_001314063.2;PFKFB3,missense_variant,p.Asp202Asn,ENST00000379775,NM_001323017.2,NM_004566.4;PFKFB3,missense_variant,p.Asp182Asn,ENST00000379789,NM_001323016.2,NM_001145443.3;PFKFB3,missense_variant,p.Asp202Asn,ENST00000640683,NM_001363545.2;PFKFB3,missense_variant,p.Asp202Asn,ENST00000379785,;PFKFB3,missense_variant,p.Asp216Asn,ENST00000536985,NM_001282630.2;PFKFB3,missense_variant,p.Asp202Asn,ENST00000317350,;PFKFB3,missense_variant,p.Asp202Asn,ENST00000626882,;PFKFB3,missense_variant,p.Asp202Asn,ENST00000625260,;PFKFB3,upstream_gene_variant,,ENST00000414237,;PFKFB3,upstream_gene_variant,,ENST00000441697,;PFKFB3,upstream_gene_variant,,ENST00000450232,;PFKFB3,downstream_gene_variant,,ENST00000639949,;PFKFB3,missense_variant,p.Asp202Asn,ENST00000467491,;PFKFB3,missense_variant,p.Asp202Asn,ENST00000461744,;PFKFB3,missense_variant,p.Asp202Asn,ENST00000490474,;PFKFB3,missense_variant,p.Asp202Asn,ENST00000477914,;PFKFB3,upstream_gene_variant,,ENST00000475881,;PFKFB3,upstream_gene_variant,,ENST00000487989,;,regulatory_region_variant,,ENSR00000394892,; A ENSG00000170525 ENST00000640683 Transcript missense_variant 933/2311 604/1707 202/568 D/N Gac/Aac rs757448210 1 NA 1 PFKFB3 HGNC HGNC:8874 protein_coding YES CCDS86068.1 ENSP00000492001 A0A1W2PR17.22 UPI0007DC81EF NM_001363545.2 probably_damaging(0.999) 7/15 PANTHER:PTHR10606,PANTHER:PTHR10606:SF41,Pfam:PF01591,Gene3D:3.40.50.300,Superfamily:SSF52540 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . CGA . 2401.6 1.195e-05 NA NA NA 0.0001087 NA NA NA 3.266e-05 6219674 BEND7 222389 . GRCh38 chr10 13492700 13492700 + Silent SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.592C>T p.Leu198= p.L198= ENST00000341083 5/9 NA NA NA NA NA NA BEND7,synonymous_variant,p.Leu198=,ENST00000341083,NM_152751.3;BEND7,synonymous_variant,p.Leu211=,ENST00000378605,NM_001369863.1,NM_001378149.1,NM_001378151.1,NM_001378150.1,NM_001100912.2;BEND7,non_coding_transcript_exon_variant,,ENST00000492675,;BEND7,downstream_gene_variant,,ENST00000466271,;BEND7,synonymous_variant,p.Leu211=,ENST00000649551,; A ENSG00000165626 ENST00000341083 Transcript synonymous_variant 889/2239 592/1407 198/468 L Cta/Tta 1 NA -1 BEND7 HGNC HGNC:23514 protein_coding YES CCDS7099.1 ENSP00000345773 Q8N7W2.134 UPI000013FFEA NM_152751.3 5/9 PANTHER:PTHR35068 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 2 NA NA NA . AGC . 2858.6 NA NA NA NA NA NA NA NA NA 13492700 MRC1 4360 . GRCh38 chr10 17823255 17823255 + Silent SNP G G A rs2253120 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.243G>A p.Thr81= p.T81= ENST00000569591 2/30 NA NA NA NA NA NA MRC1,synonymous_variant,p.Thr81=,ENST00000569591,NM_002438.4; A ENSG00000260314 ENST00000569591 Transcript synonymous_variant 361/5188 243/4371 81/1456 T acG/acA rs2253120 1 NA 1 MRC1 HGNC HGNC:7228 protein_coding YES CCDS7123.2 ENSP00000455897 P22897.221 UPI000012EB9A NM_002438.4 2/30 Gene3D:2.80.10.50,PDB-ENSP_mappings:5xts.A,PDB-ENSP_mappings:5xtw.A,PDB-ENSP_mappings:5xtw.B,PDB-ENSP_mappings:5xtw.C,PDB-ENSP_mappings:5xtw.D,PDB-ENSP_mappings:5xtw.E,PDB-ENSP_mappings:5xtw.F,PDB-ENSP_mappings:5xtw.G,PDB-ENSP_mappings:5xtw.H,PDB-ENSP_mappings:6inn.A,PDB-ENSP_mappings:6inn.B,PDB-ENSP_mappings:6inn.C,PDB-ENSP_mappings:6inn.D,PDB-ENSP_mappings:6ino.A,PDB-ENSP_mappings:6ino.B,PDB-ENSP_mappings:6inu.A,PDB-ENSP_mappings:6inu.B,PDB-ENSP_mappings:6inv.A,PDB-ENSP_mappings:6ioe.A,PDB-ENSP_mappings:6ioe.B,Pfam:PF00652,PROSITE_profiles:PS50231,PANTHER:PTHR22803,PANTHER:PTHR22803:SF104,SMART:SM00458,Superfamily:SSF50370,CDD:cd00161 NA NA NA NA NA NA NA NA NA 22427730,20035344,19902202,21029423 NA NA NA NA LOW 1 SNV 1 NA NA NA . CGG . 7231.03 NA NA NA NA NA NA NA NA NA 17823255 MRC1 4360 . GRCh38 chr10 17849727 17849727 + Silent SNP C C T rs71497224 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1212C>T p.Ile404= p.I404= ENST00000569591 7/30 NA NA NA NA NA NA MRC1,synonymous_variant,p.Ile404=,ENST00000569591,NM_002438.4;MIR511,downstream_gene_variant,,ENST00000385203,;,regulatory_region_variant,,ENSR00000397356,; T ENSG00000260314 ENST00000569591 Transcript synonymous_variant 1330/5188 1212/4371 404/1456 I atC/atT rs71497224,COSV99519408 1 NA 1 MRC1 HGNC HGNC:7228 protein_coding YES CCDS7123.2 ENSP00000455897 P22897.221 UPI000012EB9A NM_002438.4 7/30 Gene3D:3.10.100.10,PDB-ENSP_mappings:5xts.A,PDB-ENSP_mappings:5xtw.A,PDB-ENSP_mappings:5xtw.B,PDB-ENSP_mappings:5xtw.C,PDB-ENSP_mappings:5xtw.D,PDB-ENSP_mappings:5xtw.E,PDB-ENSP_mappings:5xtw.F,PDB-ENSP_mappings:5xtw.G,PDB-ENSP_mappings:5xtw.H,PDB-ENSP_mappings:6inn.A,PDB-ENSP_mappings:6inn.B,PDB-ENSP_mappings:6inn.C,PDB-ENSP_mappings:6inn.D,PDB-ENSP_mappings:6ino.A,PDB-ENSP_mappings:6ino.B,PDB-ENSP_mappings:6inu.A,PDB-ENSP_mappings:6inu.B,PDB-ENSP_mappings:6inv.A,PDB-ENSP_mappings:6ioe.A,PDB-ENSP_mappings:6ioe.B,Pfam:PF00059,PROSITE_profiles:PS50041,PANTHER:PTHR22803,PANTHER:PTHR22803:SF104,SMART:SM00034,Superfamily:SSF56436,CDD:cd00037 0.016 0.0068 0.0173 NA 0.0308 0.0109 0.0174 NA NA 0,1 22393309 NA NA NA NA LOW 1 SNV 1 NA 0,1 NA NA . TCG . 1039.03 8.253e-05 NA 0.0001374 NA NA NA NA 0.001526 0.0002892 17849727 MRC1 4360 . GRCh38 chr10 17870917 17870917 + Silent SNP T T C rs1443502 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2181T>C p.Thr727= p.T727= ENST00000569591 14/30 NA NA NA NA NA NA MRC1,synonymous_variant,p.Thr727=,ENST00000569591,NM_002438.4; C ENSG00000260314 ENST00000569591 Transcript synonymous_variant 2299/5188 2181/4371 727/1456 T acT/acC rs1443502 1 NA 1 MRC1 HGNC HGNC:7228 protein_coding YES CCDS7123.2 ENSP00000455897 P22897.221 UPI000012EB9A NM_002438.4 14/30 PDB-ENSP_mappings:1egg.A,PDB-ENSP_mappings:1egg.B,PDB-ENSP_mappings:1egi.A,PDB-ENSP_mappings:1egi.B,Gene3D:3.10.100.10,Pfam:PF00059,PROSITE_profiles:PS50041,PANTHER:PTHR22803,PANTHER:PTHR22803:SF104,SMART:SM00034,Superfamily:SSF56436,CDD:cd00037 NA NA NA NA NA NA NA NA NA 16385451 NA NA NA NA LOW 1 SNV 1 NA NA NA . CTT . 2712.6 NA NA NA NA NA NA NA NA NA 17870917 CACNB2 783 . GRCh38 chr10 18539231 18539231 + Missense_Mutation SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1490G>A p.Gly497Asp p.G497D ENST00000324631 14/14 NA NA NA NA NA NA CACNB2,missense_variant,p.Gly497Asp,ENST00000324631,NM_201596.3,NM_201593.3;CACNB2,missense_variant,p.Gly443Asp,ENST00000377329,NM_201590.3;CACNB2,missense_variant,p.Gly442Asp,ENST00000396576,NM_000724.4;CACNB2,missense_variant,p.Gly418Asp,ENST00000617363,;CACNB2,missense_variant,p.Gly192Asp,ENST00000615785,;CACNB2,missense_variant,p.Gly469Asp,ENST00000282343,NM_201571.4;CACNB2,missense_variant,p.Gly411Asp,ENST00000650685,;CACNB2,missense_variant,p.Gly437Asp,ENST00000652391,;CACNB2,missense_variant,p.Gly449Asp,ENST00000377315,NM_201570.3;CACNB2,missense_variant,p.Gly445Asp,ENST00000645287,NM_201572.4;CACNB2,missense_variant,p.Gly431Asp,ENST00000643096,NM_001167945.2;CACNB2,missense_variant,p.Gly473Asp,ENST00000352115,NM_201597.3;CACNB2,missense_variant,p.Gly404Asp,ENST00000377319,NM_001330060.2;CACNB2,missense_variant,p.Gly372Asp,ENST00000377331,;CACNB2,missense_variant,p.Gly247Asp,ENST00000377328,;CACNB2,splice_region_variant,,ENST00000612134,;CACNB2,intron_variant,,ENST00000612743,;AL450384.2,non_coding_transcript_exon_variant,,ENST00000425669,;AL450384.2,downstream_gene_variant,,ENST00000436485,;CACNB2,splice_region_variant,,ENST00000652478,;CACNB2,splice_region_variant,,ENST00000651928,;CACNB2,splice_region_variant,,ENST00000651330,;CACNB2,splice_region_variant,,ENST00000647168,;CACNB2,splice_region_variant,,ENST00000651468,; A ENSG00000165995 ENST00000324631 Transcript missense_variant,splice_region_variant 1803/6129 1490/1983 497/660 G/D gGt/gAt 1 NA 1 CACNB2 HGNC HGNC:1402 protein_coding YES CCDS7125.1 ENSP00000320025 Q08289.198 UPI00001AEA80 NM_201596.3,NM_201593.3 tolerated(0.05) possibly_damaging(0.743) 14/14 PANTHER:PTHR11824,PANTHER:PTHR11824:SF9,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . GGT . 1836.6 NA NA NA NA NA NA NA NA NA 18539231 SKIDA1 387640 . GRCh38 chr10 21516537 21516538 + In_Frame_Ins INS - - CCTCCT rs112207161 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1280_1285dup p.Glu427_Glu428dup p.E427_E428dup ENST00000449193 4/4 NA NA NA NA NA NA SKIDA1,inframe_insertion,p.Glu427_Glu428dup,ENST00000449193,NM_207371.4;SKIDA1,inframe_insertion,p.Glu348_Glu349dup,ENST00000444772,;SKIDA1,downstream_gene_variant,,ENST00000487107,;SKIDA1,downstream_gene_variant,,ENST00000633225,;,regulatory_region_variant,,ENSR00000025402,; CCTCCT ENSG00000180592 ENST00000449193 Transcript inframe_insertion 3538-3539/6601 1285-1286/2727 429/908 G/EEG ggg/gAGGAGGgg rs112207161 1 NA -1 SKIDA1 HGNC HGNC:32697 protein_coding YES CCDS44363.1 ENSP00000410041 Q1XH10.101 UPI00015386B3 NM_207371.4 4/4 Low_complexity_(Seg):seg,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite,PANTHER:PTHR23187:SF2,PANTHER:PTHR23187 NA 0.916 0.4063 NA 0.3244 0.5408 0.3517 0.8254 0.5312 NA NA NA NA MODERATE 1 insertion 3 NA NA NA . CCC . 1628.06 NA NA NA NA NA NA NA NA NA 21516537 DNAJC1 64215 . GRCh38 chr10 21919889 21919889 + Frame_Shift_Del DEL T T - novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.578del p.Lys193ArgfsTer22 p.K193Rfs*22 ENST00000376980 5/12 NA NA NA NA NA NA DNAJC1,frameshift_variant,p.Lys193ArgfsTer22,ENST00000376980,NM_022365.4;DNAJC1,downstream_gene_variant,,ENST00000447548,;DNAJC1,3_prime_UTR_variant,,ENST00000476103,;DNAJC1,downstream_gene_variant,,ENST00000376946,; - ENSG00000136770 ENST00000376980 Transcript frameshift_variant 874/2100 578/1665 193/554 K/X aAg/ag 1 NA -1 DNAJC1 HGNC HGNC:20090 protein_coding YES CCDS7136.1 ENSP00000366179 Q96KC8.166 UPI0000049FEF NM_022365.4 5/12 Low_complexity_(Seg):seg,PANTHER:PTHR44653 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 NA NA NA . TCTT . 1571.6 NA NA NA NA NA NA NA NA NA 21919888 PIP4K2A 5305 . GRCh38 chr10 22550669 22550669 + Frame_Shift_Del DEL T T - novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.782del p.Lys261ArgfsTer9 p.K261Rfs*9 ENST00000376573 7/10 NA NA NA NA NA NA PIP4K2A,frameshift_variant,p.Lys261ArgfsTer9,ENST00000376573,NM_005028.5;PIP4K2A,frameshift_variant,p.Lys202ArgfsTer9,ENST00000545335,NM_001330062.1;PIP4K2A,frameshift_variant,p.Lys121ArgfsTer9,ENST00000323883,;PIP4K2A,frameshift_variant,p.Lys107ArgfsTer9,ENST00000604912,;,regulatory_region_variant,,ENSR00000258510,; - ENSG00000150867 ENST00000376573 Transcript frameshift_variant 1034/3820 782/1221 261/406 K/X aAg/ag 1 NA -1 PIP4K2A HGNC HGNC:8997 protein_coding YES CCDS7141.1 ENSP00000365757 P48426.174 UPI0000001052 NM_005028.5 7/10 PDB-ENSP_mappings:2ybx.A,PDB-ENSP_mappings:2ybx.B,PDB-ENSP_mappings:6osp.A,PDB-ENSP_mappings:6osp.B,PROSITE_profiles:PS51455,CDD:cd17309,PANTHER:PTHR23086,PANTHER:PTHR23086:SF21,Gene3D:3.30.810.10,Pfam:PF01504,SMART:SM00330,Superfamily:SSF56104 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 NA NA 1 . CCTT . 1147.6 NA NA NA NA NA NA NA NA NA 22550668 OTUD1 220213 . GRCh38 chr10 23439930 23439930 + Missense_Mutation SNP C C A rs575894418 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.473C>A p.Pro158Gln p.P158Q ENST00000376495 1/1 NA NA NA NA NA NA OTUD1,missense_variant,p.Pro158Gln,ENST00000376495,NM_001145373.2;AL512603.2,upstream_gene_variant,,ENST00000668836,;,regulatory_region_variant,,ENSR00000025586,; A ENSG00000165312 ENST00000376495 Transcript missense_variant 473/2933 473/1446 158/481 P/Q cCg/cAg rs575894418 1 NA 1 OTUD1 HGNC HGNC:27346 protein_coding YES CCDS44366.1 ENSP00000365678 Q5VV17.109 UPI0000458A32 NM_001145373.2 tolerated(0.1) benign(0.198) 1/1 PANTHER:PTHR12419,PANTHER:PTHR12419:SF7,Low_complexity_(Seg):seg 2e-04 NA NA NA NA 0.001 NA NA NA NA NA NA NA MODERATE 1 SNV NA NA NA NA . CCG . 1774.03 NA NA NA NA NA NA NA NA NA 23439930 MYO3A 53904 . GRCh38 chr10 26173831 26173831 + Frame_Shift_Del DEL A A - novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3574del p.Met1192Ter p.M1192* ENST00000642920 30/35 NA NA NA NA NA NA MYO3A,frameshift_variant,p.Met1192Ter,ENST00000642920,NM_017433.5;MYO3A,intron_variant,,ENST00000543632,;MYO3A,intron_variant,,ENST00000647478,;MYO3A,downstream_gene_variant,,ENST00000477691,; - ENSG00000095777 ENST00000642920 Transcript frameshift_variant 3771/5624 3567/4851 1189/1616 P/X ccA/cc 1 NA 1 MYO3A HGNC HGNC:7601 protein_coding YES CCDS7148.1 ENSP00000495965 Q8NEV4.167 UPI000014140A NM_017433.5 30/35 PANTHER:PTHR46256,PANTHER:PTHR46256:SF4 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion NA 7 NA 1 . CCAA . 13750.6 NA NA NA NA NA NA NA NA NA 26173830 APBB1IP 54518 . GRCh38 chr10 26567113 26567113 + Silent SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1626C>T p.Gly542= p.G542= ENST00000376236 15/15 NA NA NA NA NA NA APBB1IP,synonymous_variant,p.Gly542=,ENST00000376236,NM_019043.4;APBB1IP,non_coding_transcript_exon_variant,,ENST00000493857,; T ENSG00000077420 ENST00000376236 Transcript synonymous_variant 1943/2633 1626/2001 542/666 G ggC/ggT 1 NA 1 APBB1IP HGNC HGNC:17379 protein_coding YES CCDS31167.1 ENSP00000365411 Q7Z5R6.146 UPI00001AF165 NM_019043.4 15/15 MobiDB_lite:mobidb-lite,PANTHER:PTHR11243,PANTHER:PTHR11243:SF14 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . GCG . 770.6 NA NA NA NA NA NA NA NA NA 26567113 JCAD 57608 . GRCh38 chr10 30028775 30028775 + Missense_Mutation SNP A A T novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1373T>A p.Val458Asp p.V458D ENST00000375377 3/4 NA NA NA NA NA NA JCAD,missense_variant,p.Val458Asp,ENST00000375377,NM_001350021.2,NM_001350022.2,NM_020848.4,NM_001350001.2; T ENSG00000165757 ENST00000375377 Transcript missense_variant 1537/9324 1373/4080 458/1359 V/D gTc/gAc 1 NA -1 JCAD HGNC HGNC:29283 protein_coding YES CCDS41500.1 ENSP00000364526 Q9P266.119 UPI00001D8117 NM_001350021.2,NM_001350022.2,NM_020848.4,NM_001350001.2 tolerated(0.13) benign(0.061) 3/4 PANTHER:PTHR34757,Pfam:PF15351 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . GAC . 3373.6 NA NA NA NA NA NA NA NA NA 30028775 ANXA8L1 728113 . GRCh38 chr10 46383535 46383535 + Missense_Mutation SNP C C T rs201596209 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.515C>T p.Ala172Val p.A172V ENST00000584982 5/12 NA NA NA NA NA NA ANXA8L1,missense_variant,p.Ala172Val,ENST00000584982,;ANXA8L1,missense_variant,p.Ala134Val,ENST00000619162,NM_001098845.3;ANXA8L1,missense_variant,p.Ala72Val,ENST00000613703,;ANXA8L1,intron_variant,,ENST00000611655,NM_001278923.2;ANXA8L1,intron_variant,,ENST00000622769,NM_001278924.2;AC244230.2,intron_variant,,ENST00000616785,;AC244230.1,downstream_gene_variant,,ENST00000623463,;ANXA8L1,downstream_gene_variant,,ENST00000620353,; T ENSG00000264230 ENST00000584982 Transcript missense_variant 740/2174 515/1098 172/365 A/V gCg/gTg rs201596209 1 NA 1 ANXA8L1 HGNC HGNC:23334 protein_coding YES ENSP00000462716 A0A075B752.40 UPI000387B0EF tolerated(0.51) possibly_damaging(0.566) 5/12 PROSITE_profiles:PS51897,PANTHER:PTHR10502,PANTHER:PTHR10502:SF133,PROSITE_patterns:PS00223,Pfam:PF00191,Gene3D:1.10.220.10,SMART:SM00335,Superfamily:SSF47874 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 2 NA NA NA . GCG . 625.6 NA NA NA NA NA NA NA NA NA 46383535 GPRIN2 9721 . GRCh38 chr10 46550009 46550010 + In_Frame_Ins INS - - CCCCCACCT rs554090811 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.727_728insAGGTGGGGG p.Arg242_Ala243insGluValGly p.R242_A243insEVG ENST00000374317 3/3 NA NA NA NA NA NA GPRIN2,inframe_insertion,p.Arg242_Ala243insGluValGly,ENST00000374317,NM_014696.4;GPRIN2,inframe_insertion,p.Arg242_Ala243insGluValGly,ENST00000374314,; CCCCCACCT ENSG00000204175 ENST00000374317 Transcript inframe_insertion 1000-1001/1966 727-728/1377 243/458 A/EVGA gct/gAGGTGGGGGct rs554090811,COSV65401125 1 NA -1 GPRIN2 HGNC HGNC:23730 protein_coding YES CCDS73101.1 ENSP00000363436 O60269.133 UPI000013ECB4 NM_014696.4 3/3 PANTHER:PTHR15718,PANTHER:PTHR15718:SF5 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 insertion 3 NA 0,1 NA NA . AGC . 13103.64 NA NA NA NA NA NA NA NA NA 46550009 GPRIN2 9721 . GRCh38 chr10 46550016 46550016 + Missense_Mutation SNP C C T rs9422022 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.721G>A p.Val241Met p.V241M ENST00000374317 3/3 NA NA NA NA NA NA GPRIN2,missense_variant,p.Val241Met,ENST00000374317,NM_014696.4;GPRIN2,missense_variant,p.Val241Met,ENST00000374314,; T ENSG00000204175 ENST00000374317 Transcript missense_variant 994/1966 721/1377 241/458 V/M Gtg/Atg rs9422022,COSV65400166 1 NA -1 GPRIN2 HGNC HGNC:23730 protein_coding YES CCDS73101.1 ENSP00000363436 O60269.133 UPI000013ECB4 NM_014696.4 tolerated(0.41) benign(0.003) 3/3 PANTHER:PTHR15718,PANTHER:PTHR15718:SF5 0.0064 0.0023 0.0014 NA 0.0139 0.0109 0.0031 NA NA 0,1 NA NA NA NA MODERATE 1 SNV 3 NA 0,1 NA NA . ACC . 13365.6 5.383e-05 0.0001113 0.0001821 NA NA NA 3.288e-05 NA 4.552e-05 46550016 PTPN20 653129 . GRCh38 chr10 46984322 46984322 + Missense_Mutation SNP A A G rs1281152440 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.676A>G p.Ile226Val p.I226V ENST00000374339 7/10 NA NA NA NA NA NA PTPN20,missense_variant,p.Ile145Val,ENST00000374218,NM_001352543.1,NM_001042363.4,NM_001352552.1;PTPN20,missense_variant,p.Ile145Val,ENST00000395721,NM_001320681.1,NM_001352522.1,NM_001352553.1,NM_001352554.1;PTPN20,missense_variant,p.Ile145Val,ENST00000506080,;PTPN20,missense_variant,p.Ile226Val,ENST00000374339,NM_001042357.4,NM_001352521.1,NM_001320685.1;PTPN20,missense_variant,p.Ile217Val,ENST00000511769,NM_001042358.4;PTPN20,missense_variant,p.Ile145Val,ENST00000505814,NM_001320686.1;PTPN20,missense_variant,p.Ile34Val,ENST00000395727,NM_001352527.1,NM_001352528.1,NM_001352529.1,NM_001352525.1,NM_001352530.1,NM_001352526.1,NM_001320691.1,NM_001042360.3;PTPN20,intron_variant,,ENST00000374342,NM_001042365.3,NM_001352555.2,NM_001352551.1;PTPN20,intron_variant,,ENST00000374346,NM_015605.8,NM_001352523.1;PTPN20,intron_variant,,ENST00000395722,NM_001352547.1,NM_001320682.1,NM_001352549.2;PTPN20,intron_variant,,ENST00000395725,NM_001042364.4,NM_001352532.1;PTPN20,intron_variant,,ENST00000417004,NM_001352540.2;PTPN20,intron_variant,,ENST00000502254,NM_001352542.1,NM_001352531.1,NM_001352541.1,NM_001352535.2;PTPN20,intron_variant,,ENST00000502705,NM_001352534.1,NM_001320684.1;PTPN20,intron_variant,,ENST00000503851,NM_001042362.3;PTPN20,intron_variant,,ENST00000508602,;PTPN20,intron_variant,,ENST00000508715,NM_001320689.1;PTPN20,intron_variant,,ENST00000509599,NM_001320683.1;PTPN20,intron_variant,,ENST00000509774,NM_001042361.4,NM_001352524.1;PTPN20,intron_variant,,ENST00000509900,NM_001352533.1;PTPN20,intron_variant,,ENST00000513156,NM_001042359.3;PTPN20,intron_variant,,ENST00000513159,NM_001352550.1,NM_001320690.1;PTPN20,intron_variant,,ENST00000513266,NM_001352537.1,NM_001352538.1,NM_001352536.1,NM_001320688.1,NM_001352539.1;PTPN20,intron_variant,,ENST00000513756,NM_001352548.1;PTPN20,3_prime_UTR_variant,,ENST00000437863,;PTPN20,3_prime_UTR_variant,,ENST00000510335,;PTPN20,downstream_gene_variant,,ENST00000508357,; G ENSG00000204179 ENST00000374339 Transcript missense_variant 753/1388 676/1263 226/420 I/V Atc/Gtc rs1281152440 1 NA 1 PTPN20 HGNC HGNC:23423 protein_coding YES CCDS73110.1 ENSP00000363459 Q4JDL3.126 UPI00000473F4 NM_001042357.4,NM_001352521.1,NM_001320685.1 deleterious(0) probably_damaging(0.998) 7/10 CDD:cd14596,Pfam:PF00102,Gene3D:3.90.190.10,SMART:SM00194,Superfamily:SSF52799,PROSITE_profiles:PS50055,PANTHER:PTHR45706:SF2,PANTHER:PTHR45706,Prints:PR00700 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . TAT . 185.6 NA NA NA NA NA NA NA NA NA 46984322 FO681492.1 0 . GRCh38 chr10 47757224 47757224 + Missense_Mutation SNP C C G rs1435481212 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1086G>C p.Glu362Asp p.E362D ENST00000623662 5/7 NA NA NA NA NA NA FO681492.1,missense_variant,p.Glu362Asp,ENST00000623662,NM_001370182.1;FO681492.1,missense_variant,p.Glu309Asp,ENST00000615923,NM_001370186.1,NM_001370185.1,NM_001370184.1,NM_001370183.1;FO681492.1,missense_variant,p.Glu309Asp,ENST00000622861,; G ENSG00000277758 ENST00000623662 Transcript missense_variant 1674/6427 1086/1425 362/474 E/D gaG/gaC rs1435481212 1 NA -1 FO681492.1 Clone_based_ensembl_gene protein_coding YES ENSP00000485217 X6R8R1.52 UPI00003666A4 NM_001370182.1 tolerated(0.9) benign(0.024) 5/7 Gene3D:2.60.40.150,Pfam:PF00168,PROSITE_profiles:PS50004,PANTHER:PTHR10024,PANTHER:PTHR10024:SF234,SMART:SM00239,Superfamily:SSF49562,CDD:cd08409 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 2 NA NA NA . CCT . 172.93 NA NA NA NA NA NA NA NA NA 47757224 NPY4R2 100996758 . GRCh38 chr10 47922575 47922575 + Silent SNP G G A rs1554989441 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.588G>A p.Ala196= p.A196= ENST00000576178 3/3 NA NA NA NA NA NA NPY4R2,synonymous_variant,p.Ala196=,ENST00000576178,;NPY4R2,synonymous_variant,p.Ala196=,ENST00000613306,NM_001278795.2;AC245041.2,intron_variant,,ENST00000479781,; A ENSG00000264717 ENST00000576178 Transcript synonymous_variant 1007/1956 588/1128 196/375 A gcG/gcA rs1554989441 1 NA 1 NPY4R2 HGNC HGNC:52383 protein_coding YES CCDS81459.1 ENSP00000490174 P0DQD5.10 UPI0000050415 3/3 Gene3D:1.20.1070.10,Pfam:PF00001,Prints:PR01015,PROSITE_profiles:PS50262,PANTHER:PTHR24235,PANTHER:PTHR24235:SF25,Superfamily:SSF81321,CDD:cd15397 NA 0.0318 0.1671 NA 0.0109 0.2833 0.1892 NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . CGG . 1947.6 NA NA NA NA NA NA NA NA NA 47922575 NPY4R2 100996758 . GRCh38 chr10 47922678 47922678 + Silent SNP T T C rs1129838 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.691T>C p.Leu231= p.L231= ENST00000576178 3/3 NA NA NA NA NA NA NPY4R2,synonymous_variant,p.Leu231=,ENST00000576178,;NPY4R2,synonymous_variant,p.Leu231=,ENST00000613306,NM_001278795.2;AC245041.2,intron_variant,,ENST00000479781,; C ENSG00000264717 ENST00000576178 Transcript synonymous_variant 1110/1956 691/1128 231/375 L Ttg/Ctg rs1129838 1 NA 1 NPY4R2 HGNC HGNC:52383 protein_coding YES CCDS81459.1 ENSP00000490174 P0DQD5.10 UPI0000050415 3/3 Gene3D:1.20.1070.10,Pfam:PF00001,Prints:PR00237,PROSITE_profiles:PS50262,PANTHER:PTHR24235,PANTHER:PTHR24235:SF25,Superfamily:SSF81321,Transmembrane_helices:TMhelix,CDD:cd15397 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . CTT . 4924.6 NA NA NA NA NA NA NA NA NA 47922678 NPY4R2 100996758 . GRCh38 chr10 47922813 47922813 + Missense_Mutation SNP G G A rs79871698 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.826G>A p.Val276Met p.V276M ENST00000576178 3/3 NA NA NA NA NA NA NPY4R2,missense_variant,p.Val276Met,ENST00000576178,;NPY4R2,missense_variant,p.Val276Met,ENST00000613306,NM_001278795.2;AC245041.2,intron_variant,,ENST00000479781,; A ENSG00000264717 ENST00000576178 Transcript missense_variant 1245/1956 826/1128 276/375 V/M Gtg/Atg rs79871698 1 NA 1 NPY4R2 HGNC HGNC:52383 protein_coding YES CCDS81459.1 ENSP00000490174 P0DQD5.10 UPI0000050415 deleterious(0.03) possibly_damaging(0.873) 3/3 Gene3D:1.20.1070.10,Pfam:PF00001,Prints:PR00237,PROSITE_profiles:PS50262,PANTHER:PTHR24235,PANTHER:PTHR24235:SF25,Superfamily:SSF81321,Transmembrane_helices:TMhelix,CDD:cd15397,Low_complexity_(Seg):seg NA 0.0734 0.1383 NA 0.0923 0.1571 0.1564 NA NA 31511551 NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CGT . 1826.6 NA NA NA NA NA NA NA NA NA 47922813 NPY4R2 100996758 . GRCh38 chr10 47922884 47922884 + Silent SNP T T C rs1048157 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.897T>C p.His299= p.H299= ENST00000576178 3/3 NA NA NA NA NA NA NPY4R2,synonymous_variant,p.His299=,ENST00000576178,;NPY4R2,synonymous_variant,p.His299=,ENST00000613306,NM_001278795.2;AC245041.2,intron_variant,,ENST00000479781,; C ENSG00000264717 ENST00000576178 Transcript synonymous_variant 1316/1956 897/1128 299/375 H caT/caC rs1048157 1 NA 1 NPY4R2 HGNC HGNC:52383 protein_coding YES CCDS81459.1 ENSP00000490174 P0DQD5.10 UPI0000050415 3/3 Gene3D:1.20.1070.10,Pfam:PF00001,Prints:PR01015,PROSITE_profiles:PS50262,PANTHER:PTHR24235,PANTHER:PTHR24235:SF25,Superfamily:SSF81321,CDD:cd15397 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . ATG . 1344.6 NA NA NA NA NA NA NA NA NA 47922884 NPY4R2 100996758 . GRCh38 chr10 47922935 47922935 + Silent SNP T T C rs1048158 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.948T>C p.Cys316= p.C316= ENST00000576178 3/3 NA NA NA NA NA NA NPY4R2,synonymous_variant,p.Cys316=,ENST00000576178,;NPY4R2,synonymous_variant,p.Cys316=,ENST00000613306,NM_001278795.2;AC245041.2,intron_variant,,ENST00000479781,; C ENSG00000264717 ENST00000576178 Transcript synonymous_variant 1367/1956 948/1128 316/375 C tgT/tgC rs1048158 1 NA 1 NPY4R2 HGNC HGNC:52383 protein_coding YES CCDS81459.1 ENSP00000490174 P0DQD5.10 UPI0000050415 3/3 Gene3D:1.20.1070.10,Pfam:PF00001,Prints:PR00237,Prints:PR01012,PROSITE_profiles:PS50262,PANTHER:PTHR24235,PANTHER:PTHR24235:SF25,Superfamily:SSF81321,Transmembrane_helices:TMhelix,CDD:cd15397 NA 0.202 0.1816 NA 0.0099 0.2823 0.1851 NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . GTG . 948.6 NA NA NA NA NA NA NA NA NA 47922935 NPY4R2 100996758 . GRCh38 chr10 47923034 47923034 + Silent SNP A A G rs1129839 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1047A>G p.Ser349= p.S349= ENST00000576178 3/3 NA NA NA NA NA NA NPY4R2,synonymous_variant,p.Ser349=,ENST00000576178,;NPY4R2,synonymous_variant,p.Ser349=,ENST00000613306,NM_001278795.2;AC245041.2,intron_variant,,ENST00000479781,;,regulatory_region_variant,,ENSR00000944335,; G ENSG00000264717 ENST00000576178 Transcript synonymous_variant 1466/1956 1047/1128 349/375 S tcA/tcG rs1129839 1 NA 1 NPY4R2 HGNC HGNC:52383 protein_coding YES CCDS81459.1 ENSP00000490174 P0DQD5.10 UPI0000050415 3/3 Gene3D:1.20.1070.10,Prints:PR01015,PANTHER:PTHR24235,PANTHER:PTHR24235:SF25,Superfamily:SSF81321 NA 0.202 0.1816 NA 0.0109 0.2823 0.1851 NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . CAG . 226.6 NA NA NA NA NA NA NA NA NA 47923034 DRGX 644168 . GRCh38 chr10 49366226 49366226 + Missense_Mutation SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.682C>T p.Pro228Ser p.P228S ENST00000374139 7/7 NA NA NA NA NA NA DRGX,missense_variant,p.Pro228Ser,ENST00000374139,NM_001276451.2;,regulatory_region_variant,,ENSR00000403310,; A ENSG00000165606 ENST00000374139 Transcript missense_variant 845/2890 682/792 228/263 P/S Cct/Tct 1 NA -1 DRGX HGNC HGNC:21536 protein_coding YES CCDS44388.2 ENSP00000363254 A6NNA5.98 UPI000013E4D0 NM_001276451.2 tolerated(0.11) benign(0.023) 7/7 MobiDB_lite:mobidb-lite,PANTHER:PTHR24329,PANTHER:PTHR24329:SF535 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 2 NA NA NA . GGC . 2865.6 NA NA NA NA NA NA NA NA NA 49366226 TIMM23B 653252 . GRCh38 chr10 49945053 49945053 + Missense_Mutation SNP G G C rs148307270 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.128G>C p.Cys43Ser p.C43S ENST00000651259 2/7 NA NA NA NA NA NA TIMM23B,missense_variant,p.Cys43Ser,ENST00000651259,NM_001290117.2,NM_001365871.1;TIMM23B,missense_variant,p.Cys43Ser,ENST00000652716,NM_001290118.1;PARG,intron_variant,,ENST00000402038,;PARG,upstream_gene_variant,,ENST00000616448,NM_001303486.2,NM_001324381.2,NM_001303489.2,NM_001303487.2,NM_003631.4;TIMM23B,intron_variant,,ENST00000483296,;PARG,upstream_gene_variant,,ENST00000611974,;TIMM23B-AGAP6,missense_variant,p.Cys43Ser,ENST00000651763,;TIMM23B-AGAP6,synonymous_variant,p.Val84=,ENST00000651208,;TIMM23B,synonymous_variant,p.Val84=,ENST00000478381,;PARG,upstream_gene_variant,,ENST00000610922,;PARG,upstream_gene_variant,,ENST00000614063,; C ENSG00000204152 ENST00000651259 Transcript missense_variant 270/2495 128/567 43/188 C/S tGt/tCt rs148307270 1 NA 1 TIMM23B HGNC HGNC:23581 protein_coding YES CCDS73131.1 ENSP00000502369 UPI000387CD3B NM_001290117.2,NM_001365871.1 tolerated(1) benign(0) 2/7 PANTHER:PTHR15371,PANTHER:PTHR15371:SF0 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE NA SNV NA NA NA NA . TGT . 14445.03 NA NA NA NA NA NA NA NA NA 49945053 WASHC2A 55747 . GRCh38 chr10 50129923 50129923 + Missense_Mutation SNP C C A rs2669761 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3592C>A p.Pro1198Thr p.P1198T ENST00000282633 29/31 NA NA NA NA NA NA WASHC2A,missense_variant,p.Pro1198Thr,ENST00000282633,NM_001005751.3;WASHC2A,missense_variant,p.Pro1177Thr,ENST00000351071,NM_001291398.1;WASHC2A,missense_variant,p.Pro1102Thr,ENST00000611324,;WASHC2A,missense_variant,p.Pro1136Thr,ENST00000314664,NM_001330102.2;WASHC2A,missense_variant,p.Pro1110Thr,ENST00000399339,;WASHC2A,downstream_gene_variant,,ENST00000454806,;WASHC2A,intron_variant,,ENST00000434114,; A ENSG00000099290 ENST00000282633 Transcript missense_variant 3644/4642 3592/4026 1198/1341 P/T Ccc/Acc rs2669761 1 NA 1 WASHC2A HGNC HGNC:23416 protein_coding YES CCDS41527.1 ENSP00000282633 Q641Q2.121 UPI000044FEAB NM_001005751.3 tolerated(0.12) benign(0.332) 29/31 PANTHER:PTHR21669,PANTHER:PTHR21669:SF1,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . TCC . 4411.6 3.035e-05 0.0003201 NA NA NA NA NA NA NA 50129923 ASAH2 56624 . GRCh38 chr10 50210866 50210866 + Silent SNP T T C rs992270 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1371A>G p.Ala457= p.A457= ENST00000395526 13/22 NA NA NA NA NA NA ASAH2,synonymous_variant,p.Ala457=,ENST00000395526,NM_019893.3;ASAH2,synonymous_variant,p.Ala403=,ENST00000329428,NM_001143974.2;ASAH2,synonymous_variant,p.Ala299=,ENST00000443575,; C ENSG00000188611 ENST00000395526 Transcript synonymous_variant 1662/7171 1371/2343 457/780 A gcA/gcG rs992270 1 NA -1 ASAH2 HGNC HGNC:18860 protein_coding YES CCDS7239.2 ENSP00000378897 Q9NR71.144 UPI00004042A7 NM_019893.3 13/22 PDB-ENSP_mappings:4wgk.A,PDB-ENSP_mappings:4wgk.B,PANTHER:PTHR12670:SF1,PANTHER:PTHR12670,Pfam:PF04734 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . CTG . 3669.03 2.464e-05 NA NA NA NA NA NA NA 0.0001294 50210866 IPMK 253430 . GRCh38 chr10 58196430 58196430 + Silent SNP A A G novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.897T>C p.Ser299= p.S299= ENST00000373935 6/6 NA NA NA NA NA NA IPMK,synonymous_variant,p.Ser299=,ENST00000373935,NM_152230.5; G ENSG00000151151 ENST00000373935 Transcript synonymous_variant 1180/6093 897/1251 299/416 S agT/agC 1 NA -1 IPMK HGNC HGNC:20739 protein_coding YES CCDS7250.1 ENSP00000363046 Q8NFU5.148 UPI000006FB8E NM_152230.5 6/6 Gene3D:1.10.510.50,Pfam:PF03770,PANTHER:PTHR12400,PANTHER:PTHR12400:SF80,Superfamily:SSF56104 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . AAC . 4439.6 NA NA NA NA NA NA NA NA NA 58196430 TMEM26 219623 . GRCh38 chr10 61428930 61428930 + Missense_Mutation SNP C C T rs776096494 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.601G>A p.Val201Met p.V201M ENST00000399298 4/6 NA NA NA NA NA NA TMEM26,missense_variant,p.Val201Met,ENST00000399298,NM_178505.8;TMEM26,missense_variant,p.Val111Met,ENST00000277749,;TMEM26,missense_variant,p.Val201Met,ENST00000503886,;TMEM26,missense_variant,p.Val201Met,ENST00000488505,; T ENSG00000196932 ENST00000399298 Transcript missense_variant 901/5087 601/1107 201/368 V/M Gtg/Atg rs776096494 1 NA -1 TMEM26 HGNC HGNC:28550 protein_coding YES CCDS41530.1 ENSP00000382237 Q6ZUK4.111 UPI00001C0B3F NM_178505.8 deleterious(0.01) probably_damaging(0.996) 4/6 PANTHER:PTHR22168:SF3,PANTHER:PTHR22168,Pfam:PF09772 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . ACA . 1510.6 4.025e-06 NA NA NA NA NA NA NA 3.27e-05 61428930 ZNF365 22891 . GRCh38 chr10 62399754 62399754 + Frame_Shift_Del DEL A A - rs751774089 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1196del p.Lys399SerfsTer6 p.K399Sfs*6 ENST00000395254 5/5 NA NA NA NA NA NA ZNF365,frameshift_variant,p.Lys399SerfsTer6,ENST00000395254,NM_014951.3;ZNF365,intron_variant,,ENST00000395255,NM_199450.2;AC024598.1,intron_variant,,ENST00000647733,;ZNF365,non_coding_transcript_exon_variant,,ENST00000466727,; - ENSG00000138311 ENST00000395254 Transcript frameshift_variant 1292/3988 1189/1224 397/407 K/X Aaa/aa rs751774089 1 NA 1 ZNF365 HGNC HGNC:18194 protein_coding YES CCDS31209.1 ENSP00000378674 Q70YC5.128 UPI000013D112 NM_014951.3 5/5 PANTHER:PTHR15739,PANTHER:PTHR15739:SF2 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 7 NA 1 . CTAA . 1663.6 2.816e-05 6.206e-05 NA NA 5.539e-05 NA 4.453e-05 NA NA 62399753 HERC4 26091 . GRCh38 chr10 68034052 68034052 + Missense_Mutation SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.598G>A p.Ala200Thr p.A200T ENST00000395198 6/26 NA NA NA NA NA NA HERC4,missense_variant,p.Ala200Thr,ENST00000395198,NM_022079.3;HERC4,missense_variant,p.Ala200Thr,ENST00000373700,NM_001278186.2,NM_015601.4;HERC4,missense_variant,p.Ala90Thr,ENST00000277817,;HERC4,missense_variant,p.Ala200Thr,ENST00000412272,NM_001278185.2;HERC4,missense_variant,p.Ala224Thr,ENST00000513996,;HERC4,missense_variant,p.Ala197Thr,ENST00000427635,;HERC4,3_prime_UTR_variant,,ENST00000473533,;HERC4,non_coding_transcript_exon_variant,,ENST00000463478,; T ENSG00000148634 ENST00000395198 Transcript missense_variant 846/4445 598/3174 200/1057 A/T Gcc/Acc 1 NA -1 HERC4 HGNC HGNC:24521 protein_coding YES CCDS41533.1 ENSP00000378624 Q5GLZ8.133 UPI00004C6F56 NM_022079.3 tolerated(0.39) benign(0.315) 6/26 Gene3D:2.130.10.30,Pfam:PF00415,PROSITE_profiles:PS50012,PANTHER:PTHR45622,PANTHER:PTHR45622:SF5,Superfamily:SSF50985 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . GCT . 1283.6 NA NA NA NA NA NA NA NA NA 68034052 COL13A1 1305 . GRCh38 chr10 69875136 69875136 + Missense_Mutation SNP A A C novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.408A>C p.Lys136Asn p.K136N ENST00000645393 5/41 NA NA NA NA NA NA COL13A1,missense_variant,p.Lys136Asn,ENST00000645393,NM_001368882.1;COL13A1,missense_variant,p.Lys136Asn,ENST00000398978,NM_001130103.2;COL13A1,missense_variant,p.Lys136Asn,ENST00000354547,NM_080801.4;COL13A1,missense_variant,p.Lys136Asn,ENST00000522165,NM_001320951.2,NM_001368884.1,NM_080800.4;COL13A1,missense_variant,p.Lys136Asn,ENST00000517713,NM_080802.4;COL13A1,intron_variant,,ENST00000357811,NM_001368883.1;COL13A1,intron_variant,,ENST00000398969,;COL13A1,intron_variant,,ENST00000520133,NM_080805.4;COL13A1,intron_variant,,ENST00000520267,NM_001368898.1,NM_080798.4;COL13A1,intron_variant,,ENST00000673628,NM_001368885.1;COL13A1,intron_variant,,ENST00000673641,;COL13A1,intron_variant,,ENST00000673802,;COL13A1,intron_variant,,ENST00000673842,NM_001368895.1;COL13A1,intron_variant,,ENST00000674121,NM_001368886.1,NM_001368897.1,NM_001368896.1;COL13A1,upstream_gene_variant,,ENST00000484990,;COL13A1,missense_variant,p.Lys136Asn,ENST00000479733,;COL13A1,intron_variant,,ENST00000673914,;COL13A1,intron_variant,,ENST00000673957,;COL13A1,intron_variant,,ENST00000674008,;COL13A1,intron_variant,,ENST00000674040,;COL13A1,downstream_gene_variant,,ENST00000673830,; C ENSG00000197467 ENST00000645393 Transcript missense_variant 926/3148 408/2187 136/728 K/N aaA/aaC 1 NA 1 COL13A1 HGNC HGNC:2190 protein_coding YES ENSP00000496051 A0A2R8YGI3.13 UPI0005D02DA0 NM_001368882.1 deleterious(0.04) probably_damaging(0.992) 5/41 Pfam:PF01391,PANTHER:PTHR24023,PANTHER:PTHR24023:SF970 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV NA NA NA 1 . AAG . 8091.6 NA NA NA NA NA NA NA NA NA 69875136 MICU1 10367 . GRCh38 chr10 72475123 72475123 + Nonsense_Mutation SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.928C>T p.Gln310Ter p.Q310* ENST00000642044 10/14 NA NA NA NA NA NA MICU1,stop_gained,p.Gln306Ter,ENST00000398761,;MICU1,stop_gained,p.Gln304Ter,ENST00000361114,NM_001195518.2;MICU1,stop_gained,p.Gln310Ter,ENST00000642044,NM_006077.3,NM_001363513.1;MICU1,stop_gained,p.Gln308Ter,ENST00000635239,;MICU1,stop_gained,p.Gln106Ter,ENST00000398763,;MICU1,stop_gained,p.Gln106Ter,ENST00000418483,NM_001195519.1;MICU1,stop_gained,p.Gln106Ter,ENST00000489666,;MICU1,downstream_gene_variant,,ENST00000603011,;MICU1,downstream_gene_variant,,ENST00000604238,;AC091769.1,upstream_gene_variant,,ENST00000605385,;MICU1,stop_gained,p.Gln147Ter,ENST00000476605,;MICU1,downstream_gene_variant,,ENST00000604529,; A ENSG00000107745 ENST00000642044 Transcript stop_gained 1051/2221 928/1449 310/482 Q/* Cag/Tag 1 NA -1 MICU1 HGNC HGNC:1530 protein_coding YES CCDS86101.1 ENSP00000493232 A0A286YF11.18 UPI000387CA6E NM_006077.3,NM_001363513.1 10/14 CDD:cd16173,PANTHER:PTHR12294:SF1,PANTHER:PTHR12294,Gene3D:1.10.238.10,Superfamily:SSF47473 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH NA SNV NA NA NA 1 . TGC . 1351.6 NA NA NA NA NA NA NA NA NA 72475123 KCNMA1 3778 . GRCh38 chr10 76970028 76970028 + Frame_Shift_Del DEL T T - rs771351714 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2306del p.Lys769SerfsTer17 p.K769Sfs*17 ENST00000404771 20/30 NA NA NA NA NA NA KCNMA1,frameshift_variant,p.Lys714SerfsTer17,ENST00000639913,;KCNMA1,frameshift_variant,p.Lys714SerfsTer17,ENST00000638991,NM_001322829.2;KCNMA1,frameshift_variant,p.Lys711SerfsTer17,ENST00000639601,;KCNMA1,frameshift_variant,p.Lys576SerfsTer17,ENST00000604624,;KCNMA1,frameshift_variant,p.Lys711SerfsTer17,ENST00000639486,NM_001322832.2;KCNMA1,frameshift_variant,p.Lys649SerfsTer17,ENST00000639205,;KCNMA1,frameshift_variant,p.Lys769SerfsTer17,ENST00000286628,NM_001161352.2;KCNMA1,frameshift_variant,p.Lys711SerfsTer17,ENST00000286627,NM_002247.4;KCNMA1,frameshift_variant,p.Lys740SerfsTer17,ENST00000640969,;KCNMA1,frameshift_variant,p.Lys604SerfsTer17,ENST00000354353,;KCNMA1,frameshift_variant,p.Lys714SerfsTer17,ENST00000640141,NM_001322836.2;KCNMA1,frameshift_variant,p.Lys546SerfsTer17,ENST00000406533,;KCNMA1,frameshift_variant,p.Lys714SerfsTer17,ENST00000639406,NM_001271519.2;KCNMA1,frameshift_variant,p.Lys776SerfsTer17,ENST00000640523,;KCNMA1,frameshift_variant,p.Lys526SerfsTer17,ENST00000638754,;KCNMA1,frameshift_variant,p.Lys715SerfsTer17,ENST00000372443,NM_001322835.2,NM_001322837.2;KCNMA1,frameshift_variant,p.Lys649SerfsTer17,ENST00000639498,;KCNMA1,frameshift_variant,p.Lys773SerfsTer17,ENST00000638848,;KCNMA1,frameshift_variant,p.Lys718SerfsTer17,ENST00000638223,NM_001322830.2;KCNMA1,frameshift_variant,p.Lys711SerfsTer17,ENST00000639090,;KCNMA1,frameshift_variant,p.Lys715SerfsTer17,ENST00000639489,NM_001014797.3;KCNMA1,frameshift_variant,p.Lys665SerfsTer17,ENST00000639344,;KCNMA1,frameshift_variant,p.Lys740SerfsTer17,ENST00000434208,;KCNMA1,frameshift_variant,p.Lys769SerfsTer17,ENST00000404771,;KCNMA1,frameshift_variant,p.Lys769SerfsTer17,ENST00000457953,;KCNMA1,frameshift_variant,p.Lys772SerfsTer17,ENST00000639591,;KCNMA1,frameshift_variant,p.Lys718SerfsTer17,ENST00000640605,;KCNMA1,frameshift_variant,p.Lys715SerfsTer17,ENST00000638606,;KCNMA1,frameshift_variant,p.Lys715SerfsTer17,ENST00000640182,;KCNMA1,frameshift_variant,p.Lys714SerfsTer17,ENST00000372440,;KCNMA1,frameshift_variant,p.Lys714SerfsTer17,ENST00000638351,;KCNMA1,frameshift_variant,p.Lys711SerfsTer17,ENST00000638203,;KCNMA1,frameshift_variant,p.Lys711SerfsTer17,ENST00000638306,;KCNMA1,frameshift_variant,p.Lys689SerfsTer17,ENST00000372421,;KCNMA1,frameshift_variant,p.Lys649SerfsTer17,ENST00000372408,;KCNMA1,frameshift_variant,p.Lys108SerfsTer17,ENST00000639716,;KCNMA1,frameshift_variant,p.Lys713SerfsTer17,ENST00000372437,;KCNMA1,frameshift_variant,p.Lys773SerfsTer17,ENST00000638759,;KCNMA1,frameshift_variant,p.Lys772SerfsTer17,ENST00000638575,;KCNMA1,frameshift_variant,p.Lys755SerfsTer17,ENST00000638514,;KCNMA1,frameshift_variant,p.Lys769SerfsTer17,ENST00000639544,;KCNMA1,frameshift_variant,p.Lys704SerfsTer17,ENST00000638895,;KCNMA1,frameshift_variant,p.Lys711SerfsTer17,ENST00000640834,;KCNMA1,frameshift_variant,p.Lys711SerfsTer17,ENST00000626620,NM_001161353.2;KCNMA1,frameshift_variant,p.Lys679SerfsTer17,ENST00000639823,;KCNMA1,frameshift_variant,p.Lys694SerfsTer17,ENST00000639370,;KCNMA1,frameshift_variant,p.Lys646SerfsTer17,ENST00000372403,;KCNMA1,frameshift_variant,p.Lys711SerfsTer17,ENST00000640029,;KCNMA1,frameshift_variant,p.Lys708SerfsTer17,ENST00000640934,;KCNMA1,frameshift_variant,p.Lys719SerfsTer17,ENST00000640773,;KCNMA1,frameshift_variant,p.Lys675SerfsTer17,ENST00000404857,NM_001322838.1;KCNMA1,frameshift_variant,p.Lys618SerfsTer17,ENST00000638283,;KCNMA1,frameshift_variant,p.Lys661SerfsTer17,ENST00000640807,NM_001271518.2;KCNMA1,frameshift_variant,p.Lys652SerfsTer17,ENST00000638252,;KCNMA1,frameshift_variant,p.Lys595SerfsTer17,ENST00000640626,;KCNMA1,frameshift_variant,p.Lys500SerfsTer17,ENST00000639730,;KCNMA1,frameshift_variant,p.Lys522SerfsTer17,ENST00000640353,;KCNMA1,downstream_gene_variant,,ENST00000475352,;KCNMA1,downstream_gene_variant,,ENST00000637862,;KCNMA1-AS1,intron_variant,,ENST00000458661,;KCNMA1-AS1,intron_variant,,ENST00000598613,;KCNMA1-AS1,intron_variant,,ENST00000600782,;KCNMA1,non_coding_transcript_exon_variant,,ENST00000639069,;KCNMA1,non_coding_transcript_exon_variant,,ENST00000639851,;KCNMA1,non_coding_transcript_exon_variant,,ENST00000640570,;KCNMA1,non_coding_transcript_exon_variant,,ENST00000638999,;KCNMA1,non_coding_transcript_exon_variant,,ENST00000638370,;KCNMA1,non_coding_transcript_exon_variant,,ENST00000484507,;KCNMA1,non_coding_transcript_exon_variant,,ENST00000638361,;KCNMA1,3_prime_UTR_variant,,ENST00000638751,;KCNMA1,3_prime_UTR_variant,,ENST00000639968,;KCNMA1,3_prime_UTR_variant,,ENST00000639483,;KCNMA1,3_prime_UTR_variant,,ENST00000639995,;KCNMA1,3_prime_UTR_variant,,ENST00000640093,;KCNMA1,3_prime_UTR_variant,,ENST00000639691,;KCNMA1,non_coding_transcript_exon_variant,,ENST00000638632,;KCNMA1,non_coding_transcript_exon_variant,,ENST00000639657,;KCNMA1,non_coding_transcript_exon_variant,,ENST00000639321,;,regulatory_region_variant,,ENSR00000408739,; - ENSG00000156113 ENST00000404771 Transcript frameshift_variant 2439/4014 2306/3867 769/1288 K/X aAg/ag rs771351714 1 NA -1 KCNMA1 HGNC HGNC:6284 protein_coding YES ENSP00000385717 Q5SVJ8.102 UPI0002B8326C 20/30 Prints:PR01449,PANTHER:PTHR10027,PANTHER:PTHR10027:SF28,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 5 NA NA 1 . GCTT . 5372.06 1.285e-05 NA NA NA NA NA NA 0.0003457 3.542e-05 76970027 NUTM2E 0 . GRCh38 chr10 79849996 79849996 + Missense_Mutation SNP C C T rs1283256334 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2027C>T p.Thr676Met p.T676M ENST00000429984 7/7 NA NA NA NA NA NA NUTM2E,missense_variant,p.Thr676Met,ENST00000429984,NM_001355263.1;NUTM2E,3_prime_UTR_variant,,ENST00000602967,; T ENSG00000228570 ENST00000429984 Transcript missense_variant 2410/3292 2027/2637 676/878 T/M aCg/aTg rs1283256334 1 NA 1 NUTM2E HGNC HGNC:23448 protein_coding YES ENSP00000407521 B1AL46.82 UPI0001A5E5A7 NM_001355263.1 tolerated(0.26) benign(0.005) 7/7 Pfam:PF12881,PANTHER:PTHR22879,PANTHER:PTHR22879:SF14,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA 1 . ACG . 275.6 7.609e-06 NA NA NA NA NA 2.04e-05 NA NA 79849996 CDHR1 92211 . GRCh38 chr10 84195528 84195528 + Silent SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.90C>T p.Asn30= p.N30= ENST00000623527 2/17 NA NA NA NA NA NA CDHR1,synonymous_variant,p.Asn30=,ENST00000623527,NM_033100.4;CDHR1,synonymous_variant,p.Asn30=,ENST00000332904,NM_001171971.3; T ENSG00000148600 ENST00000623527 Transcript synonymous_variant 314/6877 90/2580 30/859 N aaC/aaT 1 NA 1 CDHR1 HGNC HGNC:14550 protein_coding YES CCDS7372.1 ENSP00000485478 Q96JP9.142 F1T0L2.85 UPI0000161C2F NM_033100.4 2/17 PANTHER:PTHR24028,PANTHER:PTHR24028:SF263 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . ACG . 8154.03 NA NA NA NA NA NA NA NA NA 84195528 PTEN 5728 . GRCh38 chr10 87933147 87933147 + Missense_Mutation SNP C C G rs121909224 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.388C>G p.Arg130Gly p.R130G ENST00000371953 5/9 NA NA NA NA NA NA PTEN,missense_variant,p.Arg130Gly,ENST00000371953,NM_001304717.5,NM_000314.8;PTEN,non_coding_transcript_exon_variant,,ENST00000498703,;,regulatory_region_variant,,ENSR00000411049,;,TF_binding_site_variant,,ENSM00205240245,;,TF_binding_site_variant,,ENSM00205204368,; G ENSG00000171862 ENST00000371953 Transcript missense_variant 1233/8515 388/1212 130/403 R/G Cga/Gga rs121909224,CM094223,CM971273,COSV64288384,COSV64288463,COSV64297940,COSV64311187 1 NA 1 PTEN HGNC HGNC:9588 protein_coding YES CCDS31238.1 ENSP00000361021 P60484.196 F6KD01.79 UPI00001328C5 NM_001304717.5,NM_000314.8 deleterious(0) probably_damaging(0.999) 5/9 PDB-ENSP_mappings:1d5r.A,PDB-ENSP_mappings:5bug.A,PDB-ENSP_mappings:5bug.B,PDB-ENSP_mappings:5bug.C,PDB-ENSP_mappings:5bug.D,PDB-ENSP_mappings:5bzx.A,PDB-ENSP_mappings:5bzx.B,PDB-ENSP_mappings:5bzx.C,PDB-ENSP_mappings:5bzx.D,PDB-ENSP_mappings:5bzz.A,PDB-ENSP_mappings:5bzz.B,PDB-ENSP_mappings:5bzz.C,PDB-ENSP_mappings:5bzz.D,PROSITE_profiles:PS51181,CDD:cd14509,PANTHER:PTHR12305:SF81,PANTHER:PTHR12305,PROSITE_patterns:PS00383,Pfam:PF00782,PIRSF:PIRSF038025,Gene3D:3.90.190.10,SMART:SM00404,SMART:SM01301,Superfamily:SSF52799 NA NA NA NA NA NA NA NA NA likely_pathogenic,pathogenic 0,0,0,1,1,1,1 23757202,25157968,26619011,21824802,28526761,9259288,10923032,11504908,20085938,21194675,23335809,9856571,11274365,17286265,18767981,21956414,22266152,23470840,29784605 NA NA NA NA MODERATE 1 SNV 1 NA 1,1,1,1,1,1,1 NA 1 . ACG . 8701.03 NA NA NA NA NA NA NA NA NA 87933147 CYP2C19 1557 . GRCh38 chr10 94842912 94842912 + Missense_Mutation SNP C C A novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1037C>A p.Pro346His p.P346H ENST00000371321 7/9 NA NA NA NA NA NA CYP2C19,missense_variant,p.Pro346His,ENST00000371321,NM_000769.4;AL583836.1,3_prime_UTR_variant,,ENST00000464755,;CYP2C19,non_coding_transcript_exon_variant,,ENST00000645461,; A ENSG00000165841 ENST00000371321 Transcript missense_variant 1062/4131 1037/1473 346/490 P/H cCc/cAc 1 NA 1 CYP2C19 HGNC HGNC:2621 protein_coding YES CCDS7436.1 ENSP00000360372 P33261.190 UPI0000128270 NM_000769.4 deleterious(0) probably_damaging(1) 7/9 PANTHER:PTHR24300:SF131,PANTHER:PTHR24300,Pfam:PF00067,Gene3D:1.10.630.10,Superfamily:SSF48264 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . CCC . 2314.6 NA NA NA NA NA NA NA NA NA 94842912 RRP12 23223 . GRCh38 chr10 97385974 97385974 + Missense_Mutation SNP A A G rs373377174 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1037T>C p.Met346Thr p.M346T ENST00000536831 10/35 NA NA NA NA NA NA RRP12,missense_variant,p.Met346Thr,ENST00000536831,;RRP12,missense_variant,p.Met346Thr,ENST00000370992,NM_015179.4;RRP12,missense_variant,p.Met285Thr,ENST00000414986,NM_001145114.1;RRP12,missense_variant,p.Met246Thr,ENST00000315563,NM_001284337.2;RRP12,downstream_gene_variant,,ENST00000479317,; G ENSG00000052749 ENST00000536831 Transcript missense_variant 1226/4476 1037/3894 346/1297 M/T aTg/aCg rs373377174 1 NA -1 RRP12 HGNC HGNC:29100 protein_coding YES CCDS7457.1 ENSP00000446184 Q5JTH9.164 UPI000013E51C deleterious(0) probably_damaging(0.925) 10/35 PANTHER:PTHR21576:SF2,PANTHER:PTHR21576,Superfamily:SSF48371 NA NA NA NA NA NA NA 0.0002271 NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . CAT . 3725.03 4.462e-06 7.258e-05 NA NA NA NA NA NA NA 97385974 COX15 1355 . GRCh38 chr10 99714699 99714699 + Missense_Mutation SNP G G A rs769275933 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1121C>T p.Thr374Met p.T374M ENST00000016171 9/9 NA NA NA NA NA NA COX15,missense_variant,p.Thr374Met,ENST00000016171,NM_001320974.2,NM_001320976.2,NM_001372026.1,NM_001372028.1,NM_001320975.2,NM_001372027.1,NM_001372024.1,NM_078470.6,NM_001372025.1;COX15,intron_variant,,ENST00000370483,NM_004376.7;ENTPD7,downstream_gene_variant,,ENST00000370489,NM_001349962.2,NM_020354.5,NM_001349963.1;CUTC,intron_variant,,ENST00000493385,;COX15,non_coding_transcript_exon_variant,,ENST00000497381,;AL133353.2,intron_variant,,ENST00000649102,; A ENSG00000014919 ENST00000016171 Transcript missense_variant 1199/5030 1121/1233 374/410 T/M aCg/aTg rs769275933,COSV50013677 1 NA -1 COX15 HGNC HGNC:2263 protein_coding YES CCDS7482.1 ENSP00000016171 Q7KZN9.153 UPI000006E691 NM_001320974.2,NM_001320976.2,NM_001372026.1,NM_001372028.1,NM_001320975.2,NM_001372027.1,NM_001372024.1,NM_078470.6,NM_001372025.1 deleterious(0) probably_damaging(0.999) 9/9 Transmembrane_helices:TMhelix,HAMAP:MF_01665,PANTHER:PTHR23289,PANTHER:PTHR23289:SF2,Pfam:PF02628 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 1 NA 0,1 NA 1 . CGT . 3686.6 2.813e-05 NA 2.891e-05 NA 5.438e-05 NA 1.798e-05 NA 9.799e-05 99714699 LZTS2 84445 . GRCh38 chr10 101004129 101004129 + Missense_Mutation SNP G G T NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1031G>T p.Arg344Leu p.R344L ENST00000370220 2/4 NA NA NA NA NA NA LZTS2,missense_variant,p.Arg344Leu,ENST00000370220,NM_001318100.2;LZTS2,missense_variant,p.Arg344Leu,ENST00000370223,NM_032429.4,NM_001318099.2,NM_001318101.1;LZTS2,downstream_gene_variant,,ENST00000426584,;LZTS2,downstream_gene_variant,,ENST00000429732,;LZTS2,downstream_gene_variant,,ENST00000454422,;LZTS2,downstream_gene_variant,,ENST00000481129,;PDZD7,downstream_gene_variant,,ENST00000619208,NM_001195263.2;PDZD7,downstream_gene_variant,,ENST00000474125,;LZTS2,downstream_gene_variant,,ENST00000489526,; T ENSG00000107816 ENST00000370220 Transcript missense_variant 4094/5741 1031/2010 344/669 R/L cGg/cTg COSV64650995 1 NA 1 LZTS2 HGNC HGNC:29381 protein_coding YES CCDS7507.1 ENSP00000359240 Q9BRK4.154 UPI00001BD944 NM_001318100.2 deleterious(0) probably_damaging(0.954) 2/4 Coiled-coils_(Ncoils):Coil,HAMAP:MF_03026,PANTHER:PTHR19354,PANTHER:PTHR19354:SF4 NA NA NA NA NA NA NA NA NA 1 NA NA NA NA MODERATE 1 SNV 1 NA 1 NA NA . CGG . 1746.6 NA NA NA NA NA NA NA NA NA 101004129 NFKB2 4791 . GRCh38 chr10 102398406 102398406 + Frame_Shift_Del DEL C C - novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.879del p.Tyr294IlefsTer4 p.Y294Ifs*4 ENST00000369966 11/23 NA NA NA NA NA NA NFKB2,frameshift_variant,p.Tyr294IlefsTer4,ENST00000428099,NM_001288724.1;NFKB2,frameshift_variant,p.Tyr294IlefsTer4,ENST00000369966,NM_001322935.1,NM_001077494.3;NFKB2,frameshift_variant,p.Tyr294IlefsTer4,ENST00000652277,NM_001261403.3;NFKB2,frameshift_variant,p.Tyr294IlefsTer4,ENST00000661543,NM_001322934.2;NFKB2,frameshift_variant,p.Tyr294IlefsTer4,ENST00000189444,NM_002502.6;PSD,downstream_gene_variant,,ENST00000020673,NM_002779.5;PSD,downstream_gene_variant,,ENST00000406432,NM_001270965.1;NFKB2,downstream_gene_variant,,ENST00000601386,;PSD,downstream_gene_variant,,ENST00000611678,NM_001270966.1;NFKB2,non_coding_transcript_exon_variant,,ENST00000336486,;NFKB2,intron_variant,,ENST00000651907,;NFKB2,non_coding_transcript_exon_variant,,ENST00000467116,;NFKB2,downstream_gene_variant,,ENST00000471698,;NFKB2,upstream_gene_variant,,ENST00000473400,; - ENSG00000077150 ENST00000369966 Transcript frameshift_variant 1218/3195 874/2703 292/900 P/X Ccc/cc 1 NA 1 NFKB2 HGNC HGNC:7795 protein_coding YES CCDS41564.1 ENSP00000358983 Q00653.239 UPI000016A5CD NM_001322935.1,NM_001077494.3 11/23 PDB-ENSP_mappings:1a3q.A,PDB-ENSP_mappings:1a3q.B,Gene3D:2.60.40.10,PDB-ENSP_mappings:3do7.B,PDB-ENSP_mappings:5zmc.A,Pfam:PF16179,Prints:PR00057,PANTHER:PTHR24169,PANTHER:PTHR24169:SF21,SMART:SM00429,Superfamily:SSF81296,CDD:cd01177 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 5 NA 1 . CACC . 12884.03 NA NA NA NA NA NA NA NA NA 102398405 CNNM2 54805 . GRCh38 chr10 102918582 102918582 + Silent SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.102C>T p.Ser34= p.S34= ENST00000369878 1/8 NA NA NA NA NA NA CNNM2,synonymous_variant,p.Ser34=,ENST00000369878,NM_017649.5;CNNM2,synonymous_variant,p.Ser34=,ENST00000433628,NM_199076.3;CNNM2,synonymous_variant,p.Ser34=,ENST00000369875,NM_199077.2;AL356608.1,downstream_gene_variant,,ENST00000610034,;AL356608.3,upstream_gene_variant,,ENST00000652934,;,regulatory_region_variant,,ENSR00000032824,;,TF_binding_site_variant,,ENSM00207775465,; T ENSG00000148842 ENST00000369878 Transcript synonymous_variant 289/15857 102/2628 34/875 S agC/agT 1 NA 1 CNNM2 HGNC HGNC:103 protein_coding YES CCDS44474.1 ENSP00000358894 Q9H8M5.141 UPI0000231CA6 NM_017649.5 1/8 Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . GCG . 60.6 NA NA NA NA NA NA NA NA NA 102918582 CNNM2 54805 . GRCh38 chr10 102918585 102918585 + Silent SNP T T C rs1262566471 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.105T>C p.Ala35= p.A35= ENST00000369878 1/8 NA NA NA NA NA NA CNNM2,synonymous_variant,p.Ala35=,ENST00000369878,NM_017649.5;CNNM2,synonymous_variant,p.Ala35=,ENST00000433628,NM_199076.3;CNNM2,synonymous_variant,p.Ala35=,ENST00000369875,NM_199077.2;AL356608.1,downstream_gene_variant,,ENST00000610034,;AL356608.3,upstream_gene_variant,,ENST00000652934,;,regulatory_region_variant,,ENSR00000032824,;,TF_binding_site_variant,,ENSM00207948361,;,TF_binding_site_variant,,ENSM00198742504,;,TF_binding_site_variant,,ENSM00207775465,; C ENSG00000148842 ENST00000369878 Transcript synonymous_variant 292/15857 105/2628 35/875 A gcT/gcC rs1262566471 1 NA 1 CNNM2 HGNC HGNC:103 protein_coding YES CCDS44474.1 ENSP00000358894 Q9H8M5.141 UPI0000231CA6 NM_017649.5 1/8 Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . CTC . 57.6 NA NA NA NA NA NA NA NA NA 102918585 CNNM2 54805 . GRCh38 chr10 102918598 102918598 + Missense_Mutation SNP A A G novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.118A>G p.Ile40Val p.I40V ENST00000369878 1/8 NA NA NA NA NA NA CNNM2,missense_variant,p.Ile40Val,ENST00000369878,NM_017649.5;CNNM2,missense_variant,p.Ile40Val,ENST00000433628,NM_199076.3;CNNM2,missense_variant,p.Ile40Val,ENST00000369875,NM_199077.2;AL356608.1,downstream_gene_variant,,ENST00000610034,;AL356608.3,upstream_gene_variant,,ENST00000652934,;,regulatory_region_variant,,ENSR00000032824,;,TF_binding_site_variant,,ENSM00207948361,;,TF_binding_site_variant,,ENSM00198742504,;,TF_binding_site_variant,,ENSM00207775465,; G ENSG00000148842 ENST00000369878 Transcript missense_variant 305/15857 118/2628 40/875 I/V Atc/Gtc 1 NA 1 CNNM2 HGNC HGNC:103 protein_coding YES CCDS44474.1 ENSP00000358894 Q9H8M5.141 UPI0000231CA6 NM_017649.5 tolerated_low_confidence(1) benign(0) 1/8 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . GAT . 36.6 NA NA NA NA NA NA NA NA NA 102918598 NT5C2 22978 . GRCh38 chr10 103101050 103101050 + Silent SNP A A G rs757657251 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.558T>C p.Tyr186= p.Y186= ENST00000674860 10/21 NA NA NA NA NA NA NT5C2,synonymous_variant,p.Tyr178=,ENST00000676449,;NT5C2,synonymous_variant,p.Tyr186=,ENST00000674860,NM_001351170.1,NM_001351171.1,NM_001351172.1,NM_001351173.1;NT5C2,synonymous_variant,p.Tyr178=,ENST00000404739,NM_012229.4,NM_001351197.1,NM_001351178.1,NM_001351187.1,NM_001351175.1,NM_001351169.2;NT5C2,synonymous_variant,p.Tyr178=,ENST00000674696,;NT5C2,synonymous_variant,p.Tyr178=,ENST00000343289,NM_001351181.1,NM_001351183.1,NM_001351194.1,NM_001351180.1,NM_001351176.1,NM_001351188.1,NM_001351184.1,NM_001351185.1,NM_001351177.1,NM_001351195.1,NM_001351182.1,NM_001351196.1,NM_001351186.1,NM_001351190.1,NM_001351189.1,NM_001351179.1,NM_001134373.3;NT5C2,synonymous_variant,p.Tyr178=,ENST00000676428,;NT5C2,synonymous_variant,p.Tyr149=,ENST00000675985,NM_001351174.1,NM_001351191.1,NM_001351192.1,NM_001351193.1;NT5C2,synonymous_variant,p.Tyr178=,ENST00000675326,;NT5C2,synonymous_variant,p.Tyr178=,ENST00000675645,;NT5C2,non_coding_transcript_exon_variant,,ENST00000487810,;NT5C2,non_coding_transcript_exon_variant,,ENST00000481549,;NT5C2,synonymous_variant,p.Tyr178=,ENST00000675040,;NT5C2,synonymous_variant,p.Tyr178=,ENST00000369857,;NT5C2,synonymous_variant,p.Tyr186=,ENST00000452156,;NT5C2,synonymous_variant,p.Tyr113=,ENST00000552185,;NT5C2,3_prime_UTR_variant,,ENST00000674728,;NT5C2,3_prime_UTR_variant,,ENST00000675164,;NT5C2,3_prime_UTR_variant,,ENST00000675020,;NT5C2,3_prime_UTR_variant,,ENST00000675811,;NT5C2,3_prime_UTR_variant,,ENST00000675436,;NT5C2,3_prime_UTR_variant,,ENST00000470299,;NT5C2,3_prime_UTR_variant,,ENST00000461461,;NT5C2,non_coding_transcript_exon_variant,,ENST00000470228,;NT5C2,non_coding_transcript_exon_variant,,ENST00000458345,; G ENSG00000076685 ENST00000674860 Transcript synonymous_variant 910/3614 558/1710 186/569 Y taT/taC rs757657251,COSV58416472 1 NA -1 NT5C2 HGNC HGNC:8022 protein_coding YES ENSP00000502816 UPI0001D56116 NM_001351170.1,NM_001351171.1,NM_001351172.1,NM_001351173.1 10/21 CDD:cd07522,PANTHER:PTHR12103,PANTHER:PTHR12103:SF17,TIGRFAM:TIGR02244,PIRSF:PIRSF017434,Pfam:PF05761,Superfamily:SSF56784 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA LOW 1 SNV NA NA 0,1 NA 1 . TAT . 95.6 4.004e-06 NA NA NA NA NA 8.849e-06 NA NA 103101050 CALHM3 119395 . GRCh38 chr10 103473611 103473611 + Missense_Mutation SNP G G A NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.637C>T p.Arg213Cys p.R213C ENST00000369783 3/3 NA NA NA NA NA NA CALHM3,missense_variant,p.Arg213Cys,ENST00000369783,NM_001129742.2; A ENSG00000183128 ENST00000369783 Transcript missense_variant 845/1652 637/1035 213/344 R/C Cgc/Tgc COSV63922028 1 NA -1 CALHM3 HGNC HGNC:23458 protein_coding YES CCDS44476.1 ENSP00000358798 Q86XJ0.122 UPI00001BE8E6 NM_001129742.2 deleterious(0.04) probably_damaging(0.939) 3/3 PANTHER:PTHR32261:SF7,PANTHER:PTHR32261,Pfam:PF14798 NA NA NA NA NA NA NA NA NA 1 NA NA NA NA MODERATE 1 SNV 1 NA 1 NA NA . CGC . 17294.03 NA NA NA NA NA NA NA NA NA 103473611 CALHM3 119395 . GRCh38 chr10 103478834 103478834 + Missense_Mutation SNP C C A novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.199G>T p.Gly67Cys p.G67C ENST00000369783 1/3 NA NA NA NA NA NA CALHM3,missense_variant,p.Gly67Cys,ENST00000369783,NM_001129742.2;NEURL1-AS1,downstream_gene_variant,,ENST00000453753,;,regulatory_region_variant,,ENSR00000414395,;,regulatory_region_variant,,ENSR00000949475,; A ENSG00000183128 ENST00000369783 Transcript missense_variant 407/1652 199/1035 67/344 G/C Ggc/Tgc 1 NA -1 CALHM3 HGNC HGNC:23458 protein_coding YES CCDS44476.1 ENSP00000358798 Q86XJ0.122 UPI00001BE8E6 NM_001129742.2 deleterious(0.02) possibly_damaging(0.897) 1/3 Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PANTHER:PTHR32261:SF7,PANTHER:PTHR32261,Pfam:PF14798 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CCG . 7705.03 NA NA NA NA NA NA NA NA NA 103478834 SORCS1 114815 . GRCh38 chr10 106699310 106699310 + Silent SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1317C>T p.Tyr439= p.Y439= ENST00000263054 9/26 NA NA NA NA NA NA SORCS1,synonymous_variant,p.Tyr439=,ENST00000263054,NM_001206570.2,NM_052918.5,NM_001013031.3,NM_001206572.2,NM_001206569.2,NM_001206571.2;SORCS1,synonymous_variant,p.Tyr197=,ENST00000612154,;SORCS1,synonymous_variant,p.Tyr197=,ENST00000622431,;SORCS1,synonymous_variant,p.Tyr197=,ENST00000344440,;SORCS1,5_prime_UTR_variant,,ENST00000369698,; A ENSG00000108018 ENST00000263054 Transcript synonymous_variant 1325/7272 1317/3507 439/1168 Y taC/taT 1 NA -1 SORCS1 HGNC HGNC:16697 protein_coding YES CCDS7559.1 ENSP00000263054 Q8WY21.153 UPI00001AE866 NM_001206570.2,NM_052918.5,NM_001013031.3,NM_001206572.2,NM_001206569.2,NM_001206571.2 9/26 PANTHER:PTHR12106:SF8,PANTHER:PTHR12106,Pfam:PF15902,SMART:SM00602,Superfamily:SSF110296 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . TGT . 3821.6 NA NA NA NA NA NA NA NA NA 106699310 SMC3 9126 . GRCh38 chr10 110596523 110596523 + Missense_Mutation SNP A A C novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2089A>C p.Asn697His p.N697H ENST00000361804 19/29 NA NA NA NA NA NA SMC3,missense_variant,p.Asn697His,ENST00000361804,NM_005445.4;,regulatory_region_variant,,ENSR00000415609,; C ENSG00000108055 ENST00000361804 Transcript missense_variant 2211/5522 2089/3654 697/1217 N/H Aat/Cat 1 NA 1 SMC3 HGNC HGNC:2468 protein_coding YES CCDS31285.1 ENSP00000354720 Q9UQE7.197 UPI0000135A8D NM_005445.4 tolerated(0.15) possibly_damaging(0.69) 19/29 PDB-ENSP_mappings:6wg3.B,PDB-ENSP_mappings:6wg6.B,PDB-ENSP_mappings:6wg6.D,PDB-ENSP_mappings:6wg6.F,PDB-ENSP_mappings:6wg6.H,PDB-ENSP_mappings:6wg6.J,PDB-ENSP_mappings:6wg6.L,PDB-ENSP_mappings:6wge.B,Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,PANTHER:PTHR18937,PANTHER:PTHR18937:SF171,PIRSF:PIRSF005719,Pfam:PF02463,Superfamily:SSF52540 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . CAA . 61.6 NA NA NA NA NA NA NA NA NA 110596523 NHLRC2 374354 . GRCh38 chr10 113902549 113902549 + Frame_Shift_Del DEL A A - novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1456del p.Arg486GlyfsTer27 p.R486Gfs*27 ENST00000369301 8/11 NA NA NA NA NA NA NHLRC2,frameshift_variant,p.Arg486GlyfsTer27,ENST00000369301,NM_198514.4; - ENSG00000196865 ENST00000369301 Transcript frameshift_variant 1662/11051 1450/2181 484/726 K/X Aaa/aa 1 NA 1 NHLRC2 HGNC HGNC:24731 protein_coding YES CCDS7585.1 ENSP00000358307 Q8NBF2.159 UPI0000071EAF NM_198514.4 8/11 PDB-ENSP_mappings:6g7w.A,PDB-ENSP_mappings:6gc1.A,PDB-ENSP_mappings:6gc1.B,PDB-ENSP_mappings:6gc1.C,PDB-ENSP_mappings:6gc1.D,PROSITE_profiles:PS51125,CDD:cd14951,PANTHER:PTHR24104:SF22,PANTHER:PTHR24104,Pfam:PF01436,Gene3D:2.120.10.30,Superfamily:SSF101898 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 2 6 NA 1 . ACAA . 1593.6 NA NA NA NA NA NA NA NA NA 113902548 ADRB1 153 . GRCh38 chr10 114045036 114045036 + Missense_Mutation SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.904G>A p.Ala302Thr p.A302T ENST00000369295 1/1 NA NA NA NA NA NA ADRB1,missense_variant,p.Ala302Thr,ENST00000369295,NM_000684.3;,regulatory_region_variant,,ENSR00000033725,; A ENSG00000043591 ENST00000369295 Transcript missense_variant 1171/3039 904/1434 302/477 A/T Gcc/Acc 1 NA 1 ADRB1 HGNC HGNC:285 protein_coding YES CCDS7586.1 ENSP00000358301 P08588.204 UPI00000503EC NM_000684.3 tolerated(0.14) benign(0.185) 1/1 Gene3D:1.20.1070.10,Pfam:PF00001,Prints:PR00561,PROSITE_profiles:PS50262,PANTHER:PTHR24248,PANTHER:PTHR24248:SF54,SMART:SM01381,Superfamily:SSF81321,CDD:cd15958,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV NA NA NA 1 . GGC . 1096.03 NA NA NA NA NA NA NA NA NA 114045036 TDRD1 56165 . GRCh38 chr10 114217645 114217645 + Frame_Shift_Del DEL T T - rs1420178213 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2319del p.Phe773LeufsTer11 p.F773Lfs*11 ENST00000251864 17/26 NA NA NA NA NA NA TDRD1,frameshift_variant,p.Phe773LeufsTer11,ENST00000251864,NM_198795.1;TDRD1,frameshift_variant,p.Phe773LeufsTer11,ENST00000369280,NM_001365891.2;TDRD1,frameshift_variant,p.Phe773LeufsTer11,ENST00000369282,; - ENSG00000095627 ENST00000251864 Transcript frameshift_variant 2466/4510 2313/3570 771/1189 A/X gcT/gc rs1420178213 1 NA 1 TDRD1 HGNC HGNC:11712 protein_coding YES CCDS7588.1 ENSP00000251864 Q9BXT4.149 A0A140VJW6.24 UPI00001F9753 NM_198795.1 17/26 PROSITE_profiles:PS50304,CDD:cd04508,PANTHER:PTHR22948,PANTHER:PTHR22948:SF4,Pfam:PF00567,Gene3D:2.30.30.140,SMART:SM00333,Superfamily:SSF63748 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 6 NA NA . GCTT . 4404.03 1.692e-05 NA 3.287e-05 NA NA NA 1.837e-05 NA 3.623e-05 114217644 ENO4 387712 . GRCh38 chr10 116881534 116881534 + Frame_Shift_Del DEL T T - rs763733545 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1759del p.Tyr587ThrfsTer31 p.Y587Tfs*31 ENST00000622726 16/16 NA NA NA NA NA NA ENO4,frameshift_variant,p.Tyr584ThrfsTer31,ENST00000341276,NM_001242699.2;ENO4,frameshift_variant,p.Tyr587ThrfsTer31,ENST00000622726,;ENO4,frameshift_variant,p.Tyr267ThrfsTer31,ENST00000409522,;SHTN1,3_prime_UTR_variant,,ENST00000355371,NM_001127211.3;SHTN1,3_prime_UTR_variant,,ENST00000615301,NM_018330.7;ENO4,intron_variant,,ENST00000369207,;SHTN1,downstream_gene_variant,,ENST00000260777,NM_001258298.1;SHTN1,downstream_gene_variant,,ENST00000497044,; - ENSG00000188316 ENST00000622726 Transcript frameshift_variant 1807/2874 1752/1887 584/628 T/X acT/ac rs763733545,COSV53387848 1 NA 1 ENO4 HGNC HGNC:31670 protein_coding YES ENSP00000482973 A0A5H1ZRS3.2 UPI0001AE6E15 16/16 PANTHER:PTHR11902,PANTHER:PTHR11902:SF30,Superfamily:SSF51604 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA HIGH NA deletion 5 7 0,1 NA 1 . ACTT . 3562.03 7.992e-05 NA 0.0001393 NA 0.0001015 NA 0.0001162 NA 4.982e-05 116881533 INPP5F 22876 . GRCh38 chr10 119827265 119827265 + Silent SNP A A C novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2884A>C p.Arg962= p.R962= ENST00000650623 20/20 NA NA NA NA NA NA INPP5F,synonymous_variant,p.Arg866=,ENST00000649454,;INPP5F,synonymous_variant,p.Arg962=,ENST00000650623,NM_014937.4;INPP5F,synonymous_variant,p.Arg900=,ENST00000648262,;INPP5F,synonymous_variant,p.Arg866=,ENST00000647699,;INPP5F,synonymous_variant,p.Arg352=,ENST00000650409,NM_001243194.1;INPP5F,3_prime_UTR_variant,,ENST00000649251,;INPP5F,3_prime_UTR_variant,,ENST00000637174,;MCMBP,downstream_gene_variant,,ENST00000360003,NM_024834.3;MCMBP,downstream_gene_variant,,ENST00000369077,NM_001256379.1,NM_001256378.2;INPP5F,downstream_gene_variant,,ENST00000490818,;INPP5F,downstream_gene_variant,,ENST00000631485,;INPP5F,downstream_gene_variant,,ENST00000631555,;INPP5F,downstream_gene_variant,,ENST00000631572,;INPP5F,downstream_gene_variant,,ENST00000649957,;MCMBP,downstream_gene_variant,,ENST00000466047,;INPP5F,3_prime_UTR_variant,,ENST00000650305,;INPP5F,3_prime_UTR_variant,,ENST00000648621,;INPP5F,3_prime_UTR_variant,,ENST00000649297,;INPP5F,3_prime_UTR_variant,,ENST00000649742,;INPP5F,3_prime_UTR_variant,,ENST00000647933,;INPP5F,3_prime_UTR_variant,,ENST00000648515,;INPP5F,3_prime_UTR_variant,,ENST00000648661,; C ENSG00000198825 ENST00000650623 Transcript synonymous_variant 3097/4979 2884/3399 962/1132 R Aga/Cga 1 NA 1 INPP5F HGNC HGNC:17054 protein_coding YES CCDS7616.1 ENSP00000497527 Q9Y2H2.138 UPI000006FBCA NM_014937.4 20/20 PANTHER:PTHR45662,PANTHER:PTHR45662:SF8 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW NA SNV NA NA NA NA . CAG . 2315.6 NA NA NA NA NA NA NA NA NA 119827265 FGFR2 2263 . GRCh38 chr10 121515260 121515260 + Missense_Mutation SNP A A G rs121913474 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1147T>C p.Cys383Arg p.C383R ENST00000457416 9/18 NA NA NA NA NA NA FGFR2,missense_variant,p.Cys382Arg,ENST00000358487,NM_000141.5;FGFR2,missense_variant,p.Cys293Arg,ENST00000613048,NM_023029.2;FGFR2,missense_variant,p.Cys154Arg,ENST00000478859,NM_001320654.1;FGFR2,missense_variant,p.Cys270Arg,ENST00000369061,NM_001144914.1;FGFR2,missense_variant,p.Cys293Arg,ENST00000357555,NM_001144915.1;FGFR2,missense_variant,p.Cys267Arg,ENST00000356226,NM_001144916.1,NM_001144918.2;FGFR2,missense_variant,p.Cys383Arg,ENST00000457416,NM_022970.3;FGFR2,missense_variant,p.Cys268Arg,ENST00000369059,;FGFR2,missense_variant,p.Cys294Arg,ENST00000360144,NM_001144919.2;FGFR2,missense_variant,p.Cys383Arg,ENST00000369058,;FGFR2,missense_variant,p.Cys383Arg,ENST00000369056,NM_001144913.1;FGFR2,missense_variant,p.Cys293Arg,ENST00000336553,;FGFR2,missense_variant,p.Cys384Arg,ENST00000351936,;FGFR2,missense_variant,p.Cys382Arg,ENST00000346997,NM_001320658.2;FGFR2,intron_variant,,ENST00000369060,NM_001144917.2;FGFR2,upstream_gene_variant,,ENST00000429361,;FGFR2,non_coding_transcript_exon_variant,,ENST00000463870,;FGFR2,downstream_gene_variant,,ENST00000490349,;FGFR2,3_prime_UTR_variant,,ENST00000604236,; G ENSG00000066468 ENST00000457416 Transcript missense_variant 1739/3061 1147/2469 383/822 C/R Tgc/Cgc rs121913474,COSV60638681,COSV60642677 1 NA -1 FGFR2 HGNC HGNC:3689 protein_coding YES CCDS7620.2 ENSP00000410294 P21802.253 UPI000002A99A NM_022970.3 deleterious(0.02) possibly_damaging(0.865) 9/18 Transmembrane_helices:TMhelix,Pfam:PF18123,PIRSF:PIRSF000628,PANTHER:PTHR24416:SF130,PANTHER:PTHR24416 NA NA NA NA NA NA NA NA NA uncertain_significance,likely_pathogenic 0,1,1 26619011,29610392 NA NA NA NA MODERATE 1 SNV 1 NA 1,1,1 NA 1 . CAG . 9866.03 NA NA NA NA NA NA NA NA NA 121515260 ATE1 11101 . GRCh38 chr10 121902406 121902406 + Silent SNP T T C rs1204631079 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.798A>G p.Ala266= p.A266= ENST00000369043 6/12 NA NA NA NA NA NA ATE1,synonymous_variant,p.Ala266=,ENST00000369043,NM_001288735.1,NM_007041.4;ATE1,synonymous_variant,p.Ala266=,ENST00000224652,NM_001288734.1,NM_001001976.2;ATE1,synonymous_variant,p.Ala259=,ENST00000540606,NM_001288736.1;ATE1,synonymous_variant,p.Ala266=,ENST00000369040,;ATE1,3_prime_UTR_variant,,ENST00000423243,; C ENSG00000107669 ENST00000369043 Transcript synonymous_variant 880/4895 798/1557 266/518 A gcA/gcG rs1204631079 1 NA -1 ATE1 HGNC HGNC:782 protein_coding YES CCDS31299.1 ENSP00000358039 O95260.156 UPI000002A471 NM_001288735.1,NM_007041.4 6/12 PIRSF:PIRSF037207,PANTHER:PTHR21367 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . ATG . 2533.03 7.957e-06 NA NA NA NA NA 1.759e-05 NA NA 121902406 MMP21 118856 . GRCh38 chr10 125766893 125766893 + Frame_Shift_Del DEL A A - novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1479del p.Pro494GlnfsTer3 p.P494Qfs*3 ENST00000368808 7/7 NA NA NA NA NA NA MMP21,frameshift_variant,p.Pro494GlnfsTer3,ENST00000368808,NM_147191.1;MMP21,intron_variant,,ENST00000651977,;MMP21,intron_variant,,ENST00000652044,;EDRF1,downstream_gene_variant,,ENST00000337623,NM_015608.2;EDRF1,downstream_gene_variant,,ENST00000356792,NM_001202438.2;MMP21,intron_variant,,ENST00000651834,;EDRF1,downstream_gene_variant,,ENST00000368812,;EDRF1,downstream_gene_variant,,ENST00000368815,;EDRF1,downstream_gene_variant,,ENST00000419769,;EDRF1,downstream_gene_variant,,ENST00000481600,;EDRF1,downstream_gene_variant,,ENST00000525358,;EDRF1,downstream_gene_variant,,ENST00000527655,; - ENSG00000154485 ENST00000368808 Transcript frameshift_variant 1479/1919 1479/1710 493/569 F/X ttT/tt 1 NA -1 MMP21 HGNC HGNC:14357 protein_coding YES CCDS7647.1 ENSP00000357798 Q8N119.150 UPI000006FDF6 NM_147191.1 7/7 PROSITE_profiles:PS51642,CDD:cd00094,PANTHER:PTHR10201:SF147,PANTHER:PTHR10201,Gene3D:2.110.10.10,Pfam:PF00045,PIRSF:PIRSF001191,SMART:SM00120,Superfamily:SSF50923 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 NA NA 1 . GGAA . 2410.6 NA NA NA NA NA NA NA NA NA 125766892 STK32C 282974 . GRCh38 chr10 132307687 132307687 + Silent SNP G G A rs1398791588 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.147C>T p.Gly49= p.G49= ENST00000298630 1/12 NA NA NA NA NA NA STK32C,synonymous_variant,p.Gly49=,ENST00000298630,NM_001318878.2,NM_173575.4;STK32C,intron_variant,,ENST00000368620,;STK32C,upstream_gene_variant,,ENST00000368622,NM_001318879.1;,regulatory_region_variant,,ENSR00000035385,; A ENSG00000165752 ENST00000298630 Transcript synonymous_variant 264/2096 147/1461 49/486 G ggC/ggT rs1398791588 1 NA -1 STK32C HGNC HGNC:21332 protein_coding YES CCDS7666.1 ENSP00000298630 Q86UX6.150 A0A140VJW0.30 UPI0000192113 NM_001318878.2,NM_173575.4 1/12 MobiDB_lite:mobidb-lite,PANTHER:PTHR24356:SF153,PANTHER:PTHR24356 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . CGC . 3665.6 NA NA NA NA NA NA NA NA NA 132307687 KNDC1 85442 . GRCh38 chr10 133160543 133160543 + Missense_Mutation SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.76C>T p.Pro26Ser p.P26S ENST00000304613 1/30 NA NA NA NA NA NA KNDC1,missense_variant,p.Pro26Ser,ENST00000304613,NM_152643.8;KNDC1,non_coding_transcript_exon_variant,,ENST00000478074,;KNDC1,non_coding_transcript_exon_variant,,ENST00000485110,;KNDC1,upstream_gene_variant,,ENST00000530127,;,regulatory_region_variant,,ENSR00000035510,; T ENSG00000171798 ENST00000304613 Transcript missense_variant 325/7021 76/5250 26/1749 P/S Ccg/Tcg 1 NA 1 KNDC1 HGNC HGNC:29374 protein_coding YES CCDS7674.1 ENSP00000304437 Q76NI1.132 UPI00003529F7 NM_152643.8 deleterious(0.03) possibly_damaging(0.585) 1/30 PANTHER:PTHR21560 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . GCC . 2256.6 NA NA NA NA NA NA NA NA NA 133160543 ECHS1 1892 . GRCh38 chr10 133366003 133366003 + Missense_Mutation SNP C C A novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.712G>T p.Ala238Ser p.A238S ENST00000368547 6/8 NA NA NA NA NA NA ECHS1,missense_variant,p.Ala238Ser,ENST00000368547,NM_004092.4; A ENSG00000127884 ENST00000368547 Transcript missense_variant 733/1277 712/873 238/290 A/S Gcg/Tcg 1 NA -1 ECHS1 HGNC HGNC:3151 protein_coding YES CCDS7681.1 ENSP00000357535 P30084.208 UPI000013CC49 NM_004092.4 tolerated(0.28) benign(0.031) 6/8 PDB-ENSP_mappings:2hw5.A,PDB-ENSP_mappings:2hw5.B,PDB-ENSP_mappings:2hw5.C,PDB-ENSP_mappings:2hw5.D,PDB-ENSP_mappings:2hw5.E,PDB-ENSP_mappings:2hw5.F,PANTHER:PTHR11941:SF145,PANTHER:PTHR11941,Pfam:PF00378,Gene3D:1.10.12.10,Superfamily:SSF52096 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . GCT . 5212.03 NA NA NA NA NA NA NA NA NA 133366003 PGGHG 80162 . GRCh38 chr11 290415 290415 + Silent SNP C C T rs758981786 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.285C>T p.Gly95= p.G95= ENST00000409479 2/13 NA NA NA NA NA NA PGGHG,synonymous_variant,p.Gly95=,ENST00000409548,NM_025092.5;PGGHG,synonymous_variant,p.Gly95=,ENST00000409479,;PGGHG,5_prime_UTR_variant,,ENST00000409655,;PGGHG,upstream_gene_variant,,ENST00000397660,;AC136475.3,downstream_gene_variant,,ENST00000525217,;AC136475.3,downstream_gene_variant,,ENST00000533924,;AC136475.3,downstream_gene_variant,,ENST00000534742,;PGGHG,synonymous_variant,p.Gly61=,ENST00000482937,;PGGHG,non_coding_transcript_exon_variant,,ENST00000474221,;PGGHG,non_coding_transcript_exon_variant,,ENST00000529087,;PGGHG,upstream_gene_variant,,ENST00000476372,;,regulatory_region_variant,,ENSR00000035594,; T ENSG00000142102 ENST00000409479 Transcript synonymous_variant 543/3062 285/2295 95/764 G ggC/ggT rs758981786 1 NA 1 PGGHG HGNC HGNC:26210 protein_coding YES ENSP00000387099 E7EMA9.58 UPI0001881AE5 2/13 PANTHER:PTHR11051:SF8,PANTHER:PTHR11051 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW NA SNV 5 NA NA NA . GCC . 1191.6 NA NA NA NA NA NA NA NA NA 290415 B4GALNT4 338707 . GRCh38 chr11 380921 380921 + Frame_Shift_Del DEL G G - rs35951843 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2972del p.Gly991ValfsTer71 p.G991Vfs*71 ENST00000329962 19/20 NA NA NA NA NA NA B4GALNT4,frameshift_variant,p.Gly991ValfsTer71,ENST00000329962,NM_178537.5;B4GALNT4,3_prime_UTR_variant,,ENST00000534778,;B4GALNT4,3_prime_UTR_variant,,ENST00000526584,;B4GALNT4,downstream_gene_variant,,ENST00000524443,; - ENSG00000182272 ENST00000329962 Transcript frameshift_variant 3271/3750 2966/3120 989/1039 W/X tGg/tg rs35951843 1 NA 1 B4GALNT4 HGNC HGNC:26315 protein_coding YES CCDS7694.1 ENSP00000328277 Q76KP1.127 UPI00002326B6 NM_178537.5 19/20 CDD:cd00761,PANTHER:PTHR12369:SF9,PANTHER:PTHR12369,Pfam:PF05679,Gene3D:3.90.550.10,Superfamily:SSF53448 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 6 NA NA . GTGG . 2863.6 NA NA NA NA NA NA NA NA NA 380920 TSPAN4 7106 . GRCh38 chr11 850304 850304 + Silent SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.57C>T p.Gly19= p.G19= ENST00000409531 2/8 NA NA NA NA NA NA TSPAN4,synonymous_variant,p.Gly19=,ENST00000409531,;TSPAN4,5_prime_UTR_variant,,ENST00000397404,NM_001025237.1;TSPAN4,5_prime_UTR_variant,,ENST00000397408,NM_001025236.1,NM_001025235.1;TSPAN4,5_prime_UTR_variant,,ENST00000397406,NM_001025234.1;TSPAN4,5_prime_UTR_variant,,ENST00000397397,NM_003271.5;TSPAN4,5_prime_UTR_variant,,ENST00000409543,;TSPAN4,5_prime_UTR_variant,,ENST00000397411,NM_001025238.2;TSPAN4,5_prime_UTR_variant,,ENST00000527644,;TSPAN4,5_prime_UTR_variant,,ENST00000346501,;TSPAN4,5_prime_UTR_variant,,ENST00000530404,;TSPAN4,5_prime_UTR_variant,,ENST00000532375,;TSPAN4,intron_variant,,ENST00000397396,NM_001025239.1;TSPAN4,intron_variant,,ENST00000525201,;TSPAN4,intron_variant,,ENST00000525334,;TSPAN4,non_coding_transcript_exon_variant,,ENST00000464987,;TSPAN4,non_coding_transcript_exon_variant,,ENST00000526055,;TSPAN4,non_coding_transcript_exon_variant,,ENST00000524895,;,regulatory_region_variant,,ENSR00000035701,; T ENSG00000214063 ENST00000409531 Transcript synonymous_variant 141/1339 57/774 19/257 G ggC/ggT 1 NA 1 TSPAN4 HGNC HGNC:11859 protein_coding YES ENSP00000386899 J3KQ42.56 UPI0001881AE3 2/8 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . GCA . 1786.6 NA NA NA NA NA NA NA NA NA 850304 AP2A2 161 . GRCh38 chr11 970195 970195 + Frame_Shift_Del DEL A A - rs753029866 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.170del p.Lys57SerfsTer24 p.K57Sfs*24 ENST00000332231 3/22 NA NA NA NA NA NA AP2A2,frameshift_variant,p.Lys57SerfsTer24,ENST00000332231,NM_001242837.1;AP2A2,frameshift_variant,p.Lys57SerfsTer24,ENST00000448903,NM_012305.4;AP2A2,frameshift_variant,p.Lys57SerfsTer24,ENST00000534328,;AP2A2,frameshift_variant,p.Lys47SerfsTer24,ENST00000534485,;AP2A2,frameshift_variant,p.Lys63SerfsTer24,ENST00000531548,;AP2A2,frameshift_variant,p.Lys51SerfsTer24,ENST00000527024,;AP2A2,5_prime_UTR_variant,,ENST00000524559,;AP2A2,5_prime_UTR_variant,,ENST00000530801,;AP2A2,5_prime_UTR_variant,,ENST00000526753,;AP2A2,intron_variant,,ENST00000525796,;AP2A2,non_coding_transcript_exon_variant,,ENST00000529858,;AP2A2,non_coding_transcript_exon_variant,,ENST00000529818,;AP2A2,intron_variant,,ENST00000528195,;AP2A2,frameshift_variant,p.Lys57SerfsTer24,ENST00000528815,;,regulatory_region_variant,,ENSR00000421187,; - ENSG00000183020 ENST00000332231 Transcript frameshift_variant 376/4656 163/2823 55/940 K/X Aaa/aa rs753029866 1 NA 1 AP2A2 HGNC HGNC:562 protein_coding YES CCDS73234.1 ENSP00000327694 O94973.194 UPI000050AA18 NM_001242837.1 3/22 PANTHER:PTHR22780,PANTHER:PTHR22780:SF30,Pfam:PF01602,Gene3D:1.25.10.10,PIRSF:PIRSF037091,Superfamily:SSF48371 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 7 NA NA . GTAA . 3152.6 4.042e-06 NA NA NA NA NA 8.896e-06 NA NA 970194 MUC6 4588 . GRCh38 chr11 1016714 1016714 + Silent SNP G G A rs373360588 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.6087C>T p.His2029= p.H2029= ENST00000421673 31/33 NA NA NA NA NA NA MUC6,synonymous_variant,p.His2029=,ENST00000421673,NM_005961.3;AP2A2,downstream_gene_variant,,ENST00000332231,NM_001242837.1;AP2A2,downstream_gene_variant,,ENST00000448903,NM_012305.4;MUC6,downstream_gene_variant,,ENST00000527242,;MUC6,upstream_gene_variant,,ENST00000532016,;,regulatory_region_variant,,ENSR00000421195,;,regulatory_region_variant,,ENSR00000952271,; A ENSG00000184956 ENST00000421673 Transcript synonymous_variant 6150/8016 6087/7320 2029/2439 H caC/caT rs373360588,COSV70132213 1 NA -1 MUC6 HGNC HGNC:7517 protein_coding YES CCDS44513.1 ENSP00000406861 Q6W4X9.123 UPI0000251DBE NM_005961.3 31/33 PANTHER:PTHR11339,PANTHER:PTHR11339:SF264 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA LOW NA SNV 5 NA 0,1 NA NA . TGT . 1595.6 2.032e-05 6.407e-05 NA NA 0.0001668 4.712e-05 NA NA NA 1016714 MUC6 4588 . GRCh38 chr11 1016732 1016732 + Silent SNP T T C rs527248643 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.6069A>G p.Thr2023= p.T2023= ENST00000421673 31/33 NA NA NA NA NA NA MUC6,synonymous_variant,p.Thr2023=,ENST00000421673,NM_005961.3;AP2A2,downstream_gene_variant,,ENST00000332231,NM_001242837.1;AP2A2,downstream_gene_variant,,ENST00000448903,NM_012305.4;MUC6,downstream_gene_variant,,ENST00000527242,;MUC6,upstream_gene_variant,,ENST00000532016,;,regulatory_region_variant,,ENSR00000421195,;,regulatory_region_variant,,ENSR00000952271,; C ENSG00000184956 ENST00000421673 Transcript synonymous_variant 6132/8016 6069/7320 2023/2439 T acA/acG rs527248643 1 NA -1 MUC6 HGNC HGNC:7517 protein_coding YES CCDS44513.1 ENSP00000406861 Q6W4X9.123 UPI0000251DBE NM_005961.3 31/33 PANTHER:PTHR11339,PANTHER:PTHR11339:SF264 4e-04 NA NA NA NA 0.002 NA NA NA NA NA NA NA LOW NA SNV 5 NA NA NA . CTG . 488.6 2.023e-05 NA NA NA 0.0001106 4.719e-05 1.795e-05 NA NA 1016732 MUC6 4588 . GRCh38 chr11 1016733 1016733 + Missense_Mutation SNP G G T rs548701018 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.6068C>A p.Thr2023Lys p.T2023K ENST00000421673 31/33 NA NA NA NA NA NA MUC6,missense_variant,p.Thr2023Lys,ENST00000421673,NM_005961.3;AP2A2,downstream_gene_variant,,ENST00000332231,NM_001242837.1;AP2A2,downstream_gene_variant,,ENST00000448903,NM_012305.4;MUC6,downstream_gene_variant,,ENST00000527242,;MUC6,upstream_gene_variant,,ENST00000532016,;,regulatory_region_variant,,ENSR00000421195,;,regulatory_region_variant,,ENSR00000952271,; T ENSG00000184956 ENST00000421673 Transcript missense_variant 6131/8016 6068/7320 2023/2439 T/K aCa/aAa rs548701018 1 NA -1 MUC6 HGNC HGNC:7517 protein_coding YES CCDS44513.1 ENSP00000406861 Q6W4X9.123 UPI0000251DBE NM_005961.3 tolerated_low_confidence(1) benign(0.005) 31/33 PANTHER:PTHR11339,PANTHER:PTHR11339:SF264 4e-04 NA NA NA NA 0.002 NA NA NA NA NA NA NA MODERATE NA SNV 5 NA NA NA . TGT . 428.6 2.024e-05 NA NA NA 0.0001661 4.721e-05 8.976e-06 NA NA 1016733 MUC6 4588 . GRCh38 chr11 1016870 1016870 + Silent SNP G G A rs76307106 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.5931C>T p.Pro1977= p.P1977= ENST00000421673 31/33 NA NA NA NA NA NA MUC6,synonymous_variant,p.Pro1977=,ENST00000421673,NM_005961.3;AP2A2,downstream_gene_variant,,ENST00000332231,NM_001242837.1;AP2A2,downstream_gene_variant,,ENST00000448903,NM_012305.4;MUC6,downstream_gene_variant,,ENST00000527242,;MUC6,upstream_gene_variant,,ENST00000532016,;,regulatory_region_variant,,ENSR00000421195,;,regulatory_region_variant,,ENSR00000952271,; A ENSG00000184956 ENST00000421673 Transcript synonymous_variant 5994/8016 5931/7320 1977/2439 P ccC/ccT rs76307106 1 NA -1 MUC6 HGNC HGNC:7517 protein_coding YES CCDS44513.1 ENSP00000406861 Q6W4X9.123 UPI0000251DBE NM_005961.3 31/33 PANTHER:PTHR11339,PANTHER:PTHR11339:SF264,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA LOW NA SNV 5 NA NA NA . AGG . 2739.6 7.173e-05 0.000319 2.995e-05 NA 5.495e-05 0.0001523 6.685e-05 NA NA 1016870 MUC6 4588 . GRCh38 chr11 1016916 1016916 + Missense_Mutation SNP A A G rs771995197 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.5885T>C p.Leu1962Pro p.L1962P ENST00000421673 31/33 NA NA NA NA NA NA MUC6,missense_variant,p.Leu1962Pro,ENST00000421673,NM_005961.3;AP2A2,downstream_gene_variant,,ENST00000332231,NM_001242837.1;AP2A2,downstream_gene_variant,,ENST00000448903,NM_012305.4;MUC6,downstream_gene_variant,,ENST00000527242,;MUC6,upstream_gene_variant,,ENST00000532016,;,regulatory_region_variant,,ENSR00000421195,;,regulatory_region_variant,,ENSR00000952271,; G ENSG00000184956 ENST00000421673 Transcript missense_variant 5948/8016 5885/7320 1962/2439 L/P cTa/cCa rs771995197 1 NA -1 MUC6 HGNC HGNC:7517 protein_coding YES CCDS44513.1 ENSP00000406861 Q6W4X9.123 UPI0000251DBE NM_005961.3 tolerated_low_confidence(0.38) benign(0) 31/33 PANTHER:PTHR11339,PANTHER:PTHR11339:SF264,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE NA SNV 5 NA NA NA . TAG . 477.6 4.415e-05 0.000253 NA NA 0.0001101 NA 3.55e-05 0.0001649 NA 1016916 MUC6 4588 . GRCh38 chr11 1016934 1016934 + Missense_Mutation SNP G G A rs775245122 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.5867C>T p.Ser1956Leu p.S1956L ENST00000421673 31/33 NA NA NA NA NA NA MUC6,missense_variant,p.Ser1956Leu,ENST00000421673,NM_005961.3;AP2A2,downstream_gene_variant,,ENST00000332231,NM_001242837.1;AP2A2,downstream_gene_variant,,ENST00000448903,NM_012305.4;MUC6,downstream_gene_variant,,ENST00000527242,;MUC6,upstream_gene_variant,,ENST00000532016,;,regulatory_region_variant,,ENSR00000421195,;,regulatory_region_variant,,ENSR00000952271,; A ENSG00000184956 ENST00000421673 Transcript missense_variant 5930/8016 5867/7320 1956/2439 S/L tCg/tTg rs775245122 1 NA -1 MUC6 HGNC HGNC:7517 protein_coding YES CCDS44513.1 ENSP00000406861 Q6W4X9.123 UPI0000251DBE NM_005961.3 tolerated_low_confidence(0.27) benign(0) 31/33 PANTHER:PTHR11339,PANTHER:PTHR11339:SF264,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE NA SNV 5 NA NA NA . CGA . 3940.6 2.81e-05 0.0003194 NA NA NA NA 8.865e-06 0.0001654 NA 1016934 MUC6 4588 . GRCh38 chr11 1016991 1016991 + Missense_Mutation SNP T T G rs74788171 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.5810A>C p.Asn1937Thr p.N1937T ENST00000421673 31/33 NA NA NA NA NA NA MUC6,missense_variant,p.Asn1937Thr,ENST00000421673,NM_005961.3;AP2A2,downstream_gene_variant,,ENST00000332231,NM_001242837.1;AP2A2,downstream_gene_variant,,ENST00000448903,NM_012305.4;MUC6,downstream_gene_variant,,ENST00000527242,;MUC6,upstream_gene_variant,,ENST00000532016,;,regulatory_region_variant,,ENSR00000421195,;,regulatory_region_variant,,ENSR00000952271,; G ENSG00000184956 ENST00000421673 Transcript missense_variant 5873/8016 5810/7320 1937/2439 N/T aAc/aCc rs74788171 1 NA -1 MUC6 HGNC HGNC:7517 protein_coding YES CCDS44513.1 ENSP00000406861 Q6W4X9.123 UPI0000251DBE NM_005961.3 tolerated_low_confidence(1) benign(0.022) 31/33 PANTHER:PTHR11339,PANTHER:PTHR11339:SF264,MobiDB_lite:mobidb-lite 4e-04 NA NA NA 0.002 NA NA NA NA NA NA NA NA MODERATE NA SNV 5 NA NA NA . GTT . 12986.04 NA NA NA NA NA NA NA NA NA 1016991 MUC6 4588 . GRCh38 chr11 1017045 1017045 + Missense_Mutation SNP G G T rs77885750 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.5756C>A p.Pro1919His p.P1919H ENST00000421673 31/33 NA NA NA NA NA NA MUC6,missense_variant,p.Pro1919His,ENST00000421673,NM_005961.3;AP2A2,downstream_gene_variant,,ENST00000332231,NM_001242837.1;AP2A2,downstream_gene_variant,,ENST00000448903,NM_012305.4;MUC6,downstream_gene_variant,,ENST00000527242,;MUC6,upstream_gene_variant,,ENST00000532016,;,regulatory_region_variant,,ENSR00000421195,; T ENSG00000184956 ENST00000421673 Transcript missense_variant 5819/8016 5756/7320 1919/2439 P/H cCt/cAt rs77885750 1 NA -1 MUC6 HGNC HGNC:7517 protein_coding YES CCDS44513.1 ENSP00000406861 Q6W4X9.123 UPI0000251DBE NM_005961.3 tolerated_low_confidence(0.55) benign(0) 31/33 PANTHER:PTHR11339,PANTHER:PTHR11339:SF264,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE NA SNV 5 NA NA NA . AGG . 18585.6 NA NA NA NA NA NA NA NA NA 1017045 MUC6 4588 . GRCh38 chr11 1017068 1017068 + Silent SNP C C T rs78992004 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.5733G>A p.Thr1911= p.T1911= ENST00000421673 31/33 NA NA NA NA NA NA MUC6,synonymous_variant,p.Thr1911=,ENST00000421673,NM_005961.3;AP2A2,downstream_gene_variant,,ENST00000332231,NM_001242837.1;AP2A2,downstream_gene_variant,,ENST00000448903,NM_012305.4;MUC6,downstream_gene_variant,,ENST00000527242,;MUC6,upstream_gene_variant,,ENST00000532016,;,regulatory_region_variant,,ENSR00000421195,; T ENSG00000184956 ENST00000421673 Transcript synonymous_variant 5796/8016 5733/7320 1911/2439 T acG/acA rs78992004,COSV70132417 1 NA -1 MUC6 HGNC HGNC:7517 protein_coding YES CCDS44513.1 ENSP00000406861 Q6W4X9.123 UPI0000251DBE NM_005961.3 31/33 PANTHER:PTHR11339,PANTHER:PTHR11339:SF264,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA LOW NA SNV 5 NA 0,1 NA NA . CCG . 1051.6 2.044e-05 NA NA NA NA 5.386e-05 1.083e-05 NA 8.11e-05 1017068 MUC6 4588 . GRCh38 chr11 1017074 1017074 + Silent SNP A A G rs79277162 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.5727T>C p.Phe1909= p.F1909= ENST00000421673 31/33 NA NA NA NA NA NA MUC6,synonymous_variant,p.Phe1909=,ENST00000421673,NM_005961.3;AP2A2,downstream_gene_variant,,ENST00000332231,NM_001242837.1;AP2A2,downstream_gene_variant,,ENST00000448903,NM_012305.4;MUC6,downstream_gene_variant,,ENST00000527242,;MUC6,upstream_gene_variant,,ENST00000532016,;,regulatory_region_variant,,ENSR00000421195,; G ENSG00000184956 ENST00000421673 Transcript synonymous_variant 5790/8016 5727/7320 1909/2439 F ttT/ttC rs79277162,COSV70132442 1 NA -1 MUC6 HGNC HGNC:7517 protein_coding YES CCDS44513.1 ENSP00000406861 Q6W4X9.123 UPI0000251DBE NM_005961.3 31/33 PANTHER:PTHR11339,PANTHER:PTHR11339:SF264,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA LOW NA SNV 5 NA 0,1 NA NA . TAA . 2370.6 NA NA NA NA NA NA NA NA NA 1017074 MUC6 4588 . GRCh38 chr11 1017088 1017088 + Missense_Mutation SNP A A C rs74990443 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.5713T>G p.Ser1905Ala p.S1905A ENST00000421673 31/33 NA NA NA NA NA NA MUC6,missense_variant,p.Ser1905Ala,ENST00000421673,NM_005961.3;AP2A2,downstream_gene_variant,,ENST00000332231,NM_001242837.1;AP2A2,downstream_gene_variant,,ENST00000448903,NM_012305.4;MUC6,downstream_gene_variant,,ENST00000527242,;MUC6,upstream_gene_variant,,ENST00000532016,;,regulatory_region_variant,,ENSR00000421195,; C ENSG00000184956 ENST00000421673 Transcript missense_variant 5776/8016 5713/7320 1905/2439 S/A Tcc/Gcc rs74990443 1 NA -1 MUC6 HGNC HGNC:7517 protein_coding YES CCDS44513.1 ENSP00000406861 Q6W4X9.123 UPI0000251DBE NM_005961.3 tolerated_low_confidence(1) benign(0.113) 31/33 PANTHER:PTHR11339,PANTHER:PTHR11339:SF264,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE NA SNV 5 NA NA NA . GAT . 4547.6 NA NA NA NA NA NA NA NA NA 1017088 MUC6 4588 . GRCh38 chr11 1017113 1017113 + Silent SNP T T C rs74202058 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.5688A>G p.Thr1896= p.T1896= ENST00000421673 31/33 NA NA NA NA NA NA MUC6,synonymous_variant,p.Thr1896=,ENST00000421673,NM_005961.3;AP2A2,downstream_gene_variant,,ENST00000332231,NM_001242837.1;AP2A2,downstream_gene_variant,,ENST00000448903,NM_012305.4;MUC6,downstream_gene_variant,,ENST00000527242,;MUC6,upstream_gene_variant,,ENST00000532016,;,regulatory_region_variant,,ENSR00000421195,; C ENSG00000184956 ENST00000421673 Transcript synonymous_variant 5751/8016 5688/7320 1896/2439 T acA/acG rs74202058 1 NA -1 MUC6 HGNC HGNC:7517 protein_coding YES CCDS44513.1 ENSP00000406861 Q6W4X9.123 UPI0000251DBE NM_005961.3 31/33 PANTHER:PTHR11339,PANTHER:PTHR11339:SF264,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA LOW NA SNV 5 NA NA NA . GTG . 39474.6 NA NA NA NA NA NA NA NA NA 1017113 MUC6 4588 . GRCh38 chr11 1017161 1017161 + Silent SNP C C T rs374837441 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.5640G>A p.Pro1880= p.P1880= ENST00000421673 31/33 NA NA NA NA NA NA MUC6,synonymous_variant,p.Pro1880=,ENST00000421673,NM_005961.3;AP2A2,downstream_gene_variant,,ENST00000332231,NM_001242837.1;AP2A2,downstream_gene_variant,,ENST00000448903,NM_012305.4;MUC6,downstream_gene_variant,,ENST00000527242,;MUC6,upstream_gene_variant,,ENST00000532016,;,regulatory_region_variant,,ENSR00000421195,; T ENSG00000184956 ENST00000421673 Transcript synonymous_variant 5703/8016 5640/7320 1880/2439 P ccG/ccA rs374837441,COSV70143003 1 NA -1 MUC6 HGNC HGNC:7517 protein_coding YES CCDS44513.1 ENSP00000406861 Q6W4X9.123 UPI0000251DBE NM_005961.3 31/33 PANTHER:PTHR11339,PANTHER:PTHR11339:SF264,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA LOW NA SNV 5 NA 0,1 NA NA . TCG . 5228.6 0.0001112 0.000204 7.999e-05 NA 9.789e-05 0.0002117 0.0001198 NA 8.084e-05 1017161 MUC6 4588 . GRCh38 chr11 1017169 1017169 + Missense_Mutation SNP G G A rs200932890 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.5632C>T p.Pro1878Ser p.P1878S ENST00000421673 31/33 NA NA NA NA NA NA MUC6,missense_variant,p.Pro1878Ser,ENST00000421673,NM_005961.3;AP2A2,downstream_gene_variant,,ENST00000332231,NM_001242837.1;AP2A2,downstream_gene_variant,,ENST00000448903,NM_012305.4;MUC6,downstream_gene_variant,,ENST00000527242,;MUC6,upstream_gene_variant,,ENST00000532016,;,regulatory_region_variant,,ENSR00000421195,; A ENSG00000184956 ENST00000421673 Transcript missense_variant 5695/8016 5632/7320 1878/2439 P/S Cct/Tct rs200932890,COSV70132679 1 NA -1 MUC6 HGNC HGNC:7517 protein_coding YES CCDS44513.1 ENSP00000406861 Q6W4X9.123 UPI0000251DBE NM_005961.3 tolerated_low_confidence(0.27) possibly_damaging(0.518) 31/33 PANTHER:PTHR11339,PANTHER:PTHR11339:SF264,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE NA SNV 5 NA 0,1 NA NA . GGA . 3670.6 1.337e-05 NA NA NA NA 6.442e-05 1.977e-05 NA NA 1017169 MUC6 4588 . GRCh38 chr11 1017186 1017186 + Missense_Mutation SNP A A G rs74579726 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.5615T>C p.Met1872Thr p.M1872T ENST00000421673 31/33 NA NA NA NA NA NA MUC6,missense_variant,p.Met1872Thr,ENST00000421673,NM_005961.3;AP2A2,downstream_gene_variant,,ENST00000332231,NM_001242837.1;AP2A2,downstream_gene_variant,,ENST00000448903,NM_012305.4;MUC6,downstream_gene_variant,,ENST00000527242,;MUC6,upstream_gene_variant,,ENST00000532016,;,regulatory_region_variant,,ENSR00000421195,; G ENSG00000184956 ENST00000421673 Transcript missense_variant 5678/8016 5615/7320 1872/2439 M/T aTg/aCg rs74579726 1 NA -1 MUC6 HGNC HGNC:7517 protein_coding YES CCDS44513.1 ENSP00000406861 Q6W4X9.123 UPI0000251DBE NM_005961.3 tolerated_low_confidence(1) benign(0.094) 31/33 PANTHER:PTHR11339,PANTHER:PTHR11339:SF264 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE NA SNV 5 NA NA NA . CAT . 1915.6 5.501e-05 NA 4.622e-05 0.0001247 0.0001036 0.0002374 3.942e-05 NA NA 1017186 MUC6 4588 . GRCh38 chr11 1017249 1017249 + Missense_Mutation SNP C C T rs761456394 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.5552G>A p.Ser1851Asn p.S1851N ENST00000421673 31/33 NA NA NA NA NA NA MUC6,missense_variant,p.Ser1851Asn,ENST00000421673,NM_005961.3;MUC6,downstream_gene_variant,,ENST00000527242,;MUC6,upstream_gene_variant,,ENST00000532016,;,regulatory_region_variant,,ENSR00000421195,; T ENSG00000184956 ENST00000421673 Transcript missense_variant 5615/8016 5552/7320 1851/2439 S/N aGt/aAt rs761456394,COSV70147688 1 NA -1 MUC6 HGNC HGNC:7517 protein_coding YES CCDS44513.1 ENSP00000406861 Q6W4X9.123 UPI0000251DBE NM_005961.3 tolerated(0.07) benign(0.273) 31/33 PANTHER:PTHR11339,PANTHER:PTHR11339:SF264 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 5 NA 0,1 NA NA . ACT . 949.6 NA NA NA NA NA NA NA NA NA 1017249 MUC6 4588 . GRCh38 chr11 1017273 1017273 + Missense_Mutation SNP A A G rs200476918 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.5528T>C p.Phe1843Ser p.F1843S ENST00000421673 31/33 NA NA NA NA NA NA MUC6,missense_variant,p.Phe1843Ser,ENST00000421673,NM_005961.3;MUC6,downstream_gene_variant,,ENST00000527242,;MUC6,upstream_gene_variant,,ENST00000532016,;,regulatory_region_variant,,ENSR00000421195,; G ENSG00000184956 ENST00000421673 Transcript missense_variant 5591/8016 5528/7320 1843/2439 F/S tTc/tCc rs200476918 1 NA -1 MUC6 HGNC HGNC:7517 protein_coding YES CCDS44513.1 ENSP00000406861 Q6W4X9.123 UPI0000251DBE NM_005961.3 tolerated(0.51) possibly_damaging(0.621) 31/33 PANTHER:PTHR11339,PANTHER:PTHR11339:SF264 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . GAA . 3330.6 4.143e-06 NA NA NA NA NA 9.106e-06 NA NA 1017273 MUC6 4588 . GRCh38 chr11 1017464 1017602 + Frame_Shift_Del DEL TCTGGTGCCTGTACTGGTGTGGTTGGGGGTGATGCTGGTGGTAGAAGTTGAGGTGACTTCAGGATGGTGTGTGGAGGAAGTGTGTGAATGTAGGGATGTAGAGGTTTTGGCCGTGCTAAATGAGCTTCGGGATTGGCTG TCTGGTGCCTGTACTGGTGTGGTTGGGGGTGATGCTGGTGGTAGAAGTTGAGGTGACTTCAGGATGGTGTGTGGAGGAAGTGTGTGAATGTAGGGATGTAGAGGTTTTGGCCGTGCTAAATGAGCTTCGGGATTGGCTG - novel NA HCI-EC-23 NORMAL TCTGGTGCCTGTACTGGTGTGGTTGGGGGTGATGCTGGTGGTAGAAGTTGAGGTGACTTCAGGATGGTGTGTGGAGGAAGTGTGTGAATGTAGGGATGTAGAGGTTTTGGCCGTGCTAAATGAGCTTCGGGATTGGCTG TCTGGTGCCTGTACTGGTGTGGTTGGGGGTGATGCTGGTGGTAGAAGTTGAGGTGACTTCAGGATGGTGTGTGGAGGAAGTGTGTGAATGTAGGGATGTAGAGGTTTTGGCCGTGCTAAATGAGCTTCGGGATTGGCTG NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.5199_5337del p.Ser1734ProfsTer69 p.S1734Pfs*69 ENST00000421673 31/33 NA NA NA NA NA NA MUC6,frameshift_variant,p.Ser1734ProfsTer69,ENST00000421673,NM_005961.3;MUC6,downstream_gene_variant,,ENST00000527242,;MUC6,upstream_gene_variant,,ENST00000532016,;,regulatory_region_variant,,ENSR00000421195,;,regulatory_region_variant,,ENSR00000421196,;,TFBS_ablation,,ENSM00207966689,;,TFBS_ablation,,ENSM00207968435,;,TFBS_ablation,,ENSM00208085452,; - ENSG00000184956 ENST00000421673 Transcript frameshift_variant 5262-5400/8016 5199-5337/7320 1733-1779/2439 TSQSRSSFSTAKTSTSLHSHTSSTHHPEVTSTSTTSITPNHTSTGTR/X acCAGCCAATCCCGAAGCTCATTTAGCACGGCCAAAACCTCTACATCCCTACATTCACACACTTCCTCCACACACCATCCTGAAGTCACCTCAACTTCTACCACCAGCATCACCCCCAACCACACCAGTACAGGCACCAGA/ac 1 NA -1 MUC6 HGNC HGNC:7517 protein_coding YES CCDS44513.1 ENSP00000406861 Q6W4X9.123 UPI0000251DBE NM_005961.3 31/33 PANTHER:PTHR11339,PANTHER:PTHR11339:SF264,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 5 NA NA NA . GTTCTGGTGCCTGTACTGGTGTGGTTGGGGGTGATGCTGGTGGTAGAAGTTGAGGTGACTTCAGGATGGTGTGTGGAGGAAGTGTGTGAATGTAGGGATGTAGAGGTTTTGGCCGTGCTAAATGAGCTTCGGGATTGGCTGG . 4075.6 NA NA NA NA NA NA NA NA NA 1017463 MUC6 4588 . GRCh38 chr11 1017609 1017632 + In_Frame_Del DEL CTGGTGGTCACTGTCATTGGTGGG CTGGTGGTCACTGTCATTGGTGGG - rs755248382 NA HCI-EC-23 NORMAL CTGGTGGTCACTGTCATTGGTGGG CTGGTGGTCACTGTCATTGGTGGG NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.5169_5192del p.Pro1724_Ser1731del p.P1724_S1731del ENST00000421673 31/33 NA NA NA NA NA NA MUC6,inframe_deletion,p.Pro1724_Ser1731del,ENST00000421673,NM_005961.3;MUC6,downstream_gene_variant,,ENST00000527242,;MUC6,upstream_gene_variant,,ENST00000532016,;,regulatory_region_variant,,ENSR00000421195,;,regulatory_region_variant,,ENSR00000421196,; - ENSG00000184956 ENST00000421673 Transcript inframe_deletion 5232-5255/8016 5169-5192/7320 1723-1731/2439 TPPMTVTTS/T acCCCACCAATGACAGTGACCACCAGt/act rs755248382 1 NA -1 MUC6 HGNC HGNC:7517 protein_coding YES CCDS44513.1 ENSP00000406861 Q6W4X9.123 UPI0000251DBE NM_005961.3 31/33 PANTHER:PTHR11339,PANTHER:PTHR11339:SF264,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 deletion 5 NA NA NA . CACTGGTGGTCACTGTCATTGGTGGGG . 6199.6 5.462e-05 NA NA 0.0001268 5.933e-05 0.0001561 5.813e-05 NA 4.009e-05 1017608 MUC6 4588 . GRCh38 chr11 1017767 1017767 + Silent SNP G G C rs75637734 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.5034C>G p.Thr1678= p.T1678= ENST00000421673 31/33 NA NA NA NA NA NA MUC6,synonymous_variant,p.Thr1678=,ENST00000421673,NM_005961.3;MUC6,downstream_gene_variant,,ENST00000527242,;MUC6,upstream_gene_variant,,ENST00000532016,;,regulatory_region_variant,,ENSR00000421195,;,regulatory_region_variant,,ENSR00000421196,; C ENSG00000184956 ENST00000421673 Transcript synonymous_variant 5097/8016 5034/7320 1678/2439 T acC/acG rs75637734 1 NA -1 MUC6 HGNC HGNC:7517 protein_coding YES CCDS44513.1 ENSP00000406861 Q6W4X9.123 UPI0000251DBE NM_005961.3 31/33 PANTHER:PTHR11339,PANTHER:PTHR11339:SF264 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . TGG . 18096.6 NA NA NA NA NA NA NA NA NA 1017767 MUC6 4588 . GRCh38 chr11 1017793 1017793 + Missense_Mutation SNP T T G rs77940304 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.5008A>C p.Thr1670Pro p.T1670P ENST00000421673 31/33 NA NA NA NA NA NA MUC6,missense_variant,p.Thr1670Pro,ENST00000421673,NM_005961.3;MUC6,downstream_gene_variant,,ENST00000527242,;MUC6,upstream_gene_variant,,ENST00000532016,;,regulatory_region_variant,,ENSR00000421195,;,regulatory_region_variant,,ENSR00000421196,;,TF_binding_site_variant,,ENSM00207754033,; G ENSG00000184956 ENST00000421673 Transcript missense_variant 5071/8016 5008/7320 1670/2439 T/P Aca/Cca rs77940304 1 NA -1 MUC6 HGNC HGNC:7517 protein_coding YES CCDS44513.1 ENSP00000406861 Q6W4X9.123 UPI0000251DBE NM_005961.3 tolerated(1) benign(0) 31/33 PANTHER:PTHR11339,PANTHER:PTHR11339:SF264 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . GTT . 2250.6 NA NA NA NA NA NA NA NA NA 1017793 MUC6 4588 . GRCh38 chr11 1017797 1017797 + Silent SNP C C G rs76800954 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.5004G>C p.Ala1668= p.A1668= ENST00000421673 31/33 NA NA NA NA NA NA MUC6,synonymous_variant,p.Ala1668=,ENST00000421673,NM_005961.3;MUC6,downstream_gene_variant,,ENST00000527242,;MUC6,upstream_gene_variant,,ENST00000532016,;,regulatory_region_variant,,ENSR00000421195,;,regulatory_region_variant,,ENSR00000421196,;,TF_binding_site_variant,,ENSM00207754033,; G ENSG00000184956 ENST00000421673 Transcript synonymous_variant 5067/8016 5004/7320 1668/2439 A gcG/gcC rs76800954 1 NA -1 MUC6 HGNC HGNC:7517 protein_coding YES CCDS44513.1 ENSP00000406861 Q6W4X9.123 UPI0000251DBE NM_005961.3 31/33 PANTHER:PTHR11339,PANTHER:PTHR11339:SF264 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . GCG . 2113.6 7.399e-06 NA NA NA NA NA 1.595e-05 NA NA 1017797 MUC6 4588 . GRCh38 chr11 1017844 1017844 + Missense_Mutation SNP T T C rs200752571 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4957A>G p.Ile1653Val p.I1653V ENST00000421673 31/33 NA NA NA NA NA NA MUC6,missense_variant,p.Ile1653Val,ENST00000421673,NM_005961.3;MUC6,downstream_gene_variant,,ENST00000527242,;MUC6,upstream_gene_variant,,ENST00000532016,;,regulatory_region_variant,,ENSR00000421195,;,regulatory_region_variant,,ENSR00000421196,; C ENSG00000184956 ENST00000421673 Transcript missense_variant 5020/8016 4957/7320 1653/2439 I/V Att/Gtt rs200752571,COSV70150926 1 NA -1 MUC6 HGNC HGNC:7517 protein_coding YES CCDS44513.1 ENSP00000406861 Q6W4X9.123 UPI0000251DBE NM_005961.3 tolerated(0.25) benign(0.156) 31/33 PANTHER:PTHR11339,PANTHER:PTHR11339:SF264 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 5 NA 0,1 NA NA . ATC . 7609.6 1.32e-05 0.0002224 NA NA NA NA NA NA NA 1017844 MUC6 4588 . GRCh38 chr11 1017898 1017898 + Missense_Mutation SNP T T G rs781135233 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4903A>C p.Thr1635Pro p.T1635P ENST00000421673 31/33 NA NA NA NA NA NA MUC6,missense_variant,p.Thr1635Pro,ENST00000421673,NM_005961.3;MUC6,downstream_gene_variant,,ENST00000527242,;MUC6,upstream_gene_variant,,ENST00000532016,;,regulatory_region_variant,,ENSR00000421195,;,regulatory_region_variant,,ENSR00000421196,; G ENSG00000184956 ENST00000421673 Transcript missense_variant 4966/8016 4903/7320 1635/2439 T/P Acc/Ccc rs781135233 1 NA -1 MUC6 HGNC HGNC:7517 protein_coding YES CCDS44513.1 ENSP00000406861 Q6W4X9.123 UPI0000251DBE NM_005961.3 deleterious(0.02) probably_damaging(0.991) 31/33 PANTHER:PTHR11339,PANTHER:PTHR11339:SF264 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . GTA . 473.6 7.364e-05 0.0001486 3.822e-05 NA 0.0003022 0.0002806 1.12e-05 NA 3.785e-05 1017898 MUC6 4588 . GRCh38 chr11 1017945 1017945 + Missense_Mutation SNP A A G rs748946578 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4856T>C p.Phe1619Ser p.F1619S ENST00000421673 31/33 NA NA NA NA NA NA MUC6,missense_variant,p.Phe1619Ser,ENST00000421673,NM_005961.3;MUC6,downstream_gene_variant,,ENST00000527242,;MUC6,upstream_gene_variant,,ENST00000532016,;,regulatory_region_variant,,ENSR00000421195,;,regulatory_region_variant,,ENSR00000421196,; G ENSG00000184956 ENST00000421673 Transcript missense_variant 4919/8016 4856/7320 1619/2439 F/S tTc/tCc rs748946578 1 NA -1 MUC6 HGNC HGNC:7517 protein_coding YES CCDS44513.1 ENSP00000406861 Q6W4X9.123 UPI0000251DBE NM_005961.3 tolerated(0.68) benign(0.214) 31/33 PANTHER:PTHR11339,PANTHER:PTHR11339:SF264 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . GAA . 155.6 1.208e-05 NA NA NA NA NA 1.778e-05 0.0001659 NA 1017945 MUC6 4588 . GRCh38 chr11 1018025 1018025 + Silent SNP C C A rs10751677 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4776G>T p.Thr1592= p.T1592= ENST00000421673 31/33 NA NA NA NA NA NA MUC6,synonymous_variant,p.Thr1592=,ENST00000421673,NM_005961.3;MUC6,downstream_gene_variant,,ENST00000527242,;MUC6,upstream_gene_variant,,ENST00000532016,; A ENSG00000184956 ENST00000421673 Transcript synonymous_variant 4839/8016 4776/7320 1592/2439 T acG/acT rs10751677 1 NA -1 MUC6 HGNC HGNC:7517 protein_coding YES CCDS44513.1 ENSP00000406861 Q6W4X9.123 UPI0000251DBE NM_005961.3 31/33 PANTHER:PTHR11339,PANTHER:PTHR11339:SF264,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . CCG . 25815.6 NA NA NA NA NA NA NA NA NA 1018025 MUC6 4588 . GRCh38 chr11 1018031 1018031 + Silent SNP G G A rs10751678 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4770C>T p.Pro1590= p.P1590= ENST00000421673 31/33 NA NA NA NA NA NA MUC6,synonymous_variant,p.Pro1590=,ENST00000421673,NM_005961.3;MUC6,downstream_gene_variant,,ENST00000527242,;MUC6,upstream_gene_variant,,ENST00000532016,; A ENSG00000184956 ENST00000421673 Transcript synonymous_variant 4833/8016 4770/7320 1590/2439 P ccC/ccT rs10751678 1 NA -1 MUC6 HGNC HGNC:7517 protein_coding YES CCDS44513.1 ENSP00000406861 Q6W4X9.123 UPI0000251DBE NM_005961.3 31/33 PANTHER:PTHR11339,PANTHER:PTHR11339:SF264,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . TGG . 22660.6 NA NA NA NA NA NA NA NA NA 1018031 MUC6 4588 . GRCh38 chr11 1018138 1018138 + Missense_Mutation SNP T T C rs71454075 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4663A>G p.Arg1555Gly p.R1555G ENST00000421673 31/33 NA NA NA NA NA NA MUC6,missense_variant,p.Arg1555Gly,ENST00000421673,NM_005961.3;MUC6,downstream_gene_variant,,ENST00000527242,;MUC6,upstream_gene_variant,,ENST00000532016,; C ENSG00000184956 ENST00000421673 Transcript missense_variant 4726/8016 4663/7320 1555/2439 R/G Aga/Gga rs71454075 1 NA -1 MUC6 HGNC HGNC:7517 protein_coding YES CCDS44513.1 ENSP00000406861 Q6W4X9.123 UPI0000251DBE NM_005961.3 tolerated(1) benign(0) 31/33 PANTHER:PTHR11339,PANTHER:PTHR11339:SF264,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg 2e-04 NA NA NA NA 0.001 NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . CTG . 5481.6 NA NA NA NA NA NA NA NA NA 1018138 MUC6 4588 . GRCh38 chr11 1018182 1018182 + Missense_Mutation SNP G G T rs778843534 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4619C>A p.Thr1540Asn p.T1540N ENST00000421673 31/33 NA NA NA NA NA NA MUC6,missense_variant,p.Thr1540Asn,ENST00000421673,NM_005961.3;MUC6,downstream_gene_variant,,ENST00000527242,;MUC6,upstream_gene_variant,,ENST00000532016,; T ENSG00000184956 ENST00000421673 Transcript missense_variant 4682/8016 4619/7320 1540/2439 T/N aCt/aAt rs778843534,COSV70132313 1 NA -1 MUC6 HGNC HGNC:7517 protein_coding YES CCDS44513.1 ENSP00000406861 Q6W4X9.123 UPI0000251DBE NM_005961.3 deleterious(0.03) benign(0.054) 31/33 PANTHER:PTHR11339,PANTHER:PTHR11339:SF264,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 5 NA 0,1 NA NA . AGT . 889.6 8.092e-06 6.523e-05 NA NA NA NA 8.938e-06 NA NA 1018182 MUC6 4588 . GRCh38 chr11 1018186 1018186 + Missense_Mutation SNP G G T rs758021128 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4615C>A p.Pro1539Thr p.P1539T ENST00000421673 31/33 NA NA NA NA NA NA MUC6,missense_variant,p.Pro1539Thr,ENST00000421673,NM_005961.3;MUC6,downstream_gene_variant,,ENST00000527242,;MUC6,upstream_gene_variant,,ENST00000532016,; T ENSG00000184956 ENST00000421673 Transcript missense_variant 4678/8016 4615/7320 1539/2439 P/T Cca/Aca rs758021128,COSV70143117 1 NA -1 MUC6 HGNC HGNC:7517 protein_coding YES CCDS44513.1 ENSP00000406861 Q6W4X9.123 UPI0000251DBE NM_005961.3 tolerated(0.26) benign(0) 31/33 PANTHER:PTHR11339,PANTHER:PTHR11339:SF264,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 5 NA 0,1 NA NA . GGG . 577.6 4.049e-06 6.516e-05 NA NA NA NA NA NA NA 1018186 MUC6 4588 . GRCh38 chr11 1018192 1018192 + Missense_Mutation SNP C C T rs770600141 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4609G>A p.Val1537Ile p.V1537I ENST00000421673 31/33 NA NA NA NA NA NA MUC6,missense_variant,p.Val1537Ile,ENST00000421673,NM_005961.3;MUC6,downstream_gene_variant,,ENST00000527242,;MUC6,upstream_gene_variant,,ENST00000532016,; T ENSG00000184956 ENST00000421673 Transcript missense_variant 4672/8016 4609/7320 1537/2439 V/I Gtc/Atc rs770600141,COSV70144810 1 NA -1 MUC6 HGNC HGNC:7517 protein_coding YES CCDS44513.1 ENSP00000406861 Q6W4X9.123 UPI0000251DBE NM_005961.3 tolerated(0.3) benign(0) 31/33 PANTHER:PTHR11339,PANTHER:PTHR11339:SF264,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 5 NA 0,1 NA NA . ACT . 466.6 4.036e-06 6.494e-05 NA NA NA NA NA NA NA 1018192 MUC6 4588 . GRCh38 chr11 1018196 1018196 + Silent SNP A A T rs746456813 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4605T>A p.Pro1535= p.P1535= ENST00000421673 31/33 NA NA NA NA NA NA MUC6,synonymous_variant,p.Pro1535=,ENST00000421673,NM_005961.3;MUC6,downstream_gene_variant,,ENST00000527242,;MUC6,upstream_gene_variant,,ENST00000532016,; T ENSG00000184956 ENST00000421673 Transcript synonymous_variant 4668/8016 4605/7320 1535/2439 P ccT/ccA rs746456813 1 NA -1 MUC6 HGNC HGNC:7517 protein_coding YES CCDS44513.1 ENSP00000406861 Q6W4X9.123 UPI0000251DBE NM_005961.3 31/33 PANTHER:PTHR11339,PANTHER:PTHR11339:SF264,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . CAG . 52.6 1.209e-05 0.0001297 NA NA NA NA 8.901e-06 NA NA 1018196 MUC6 4588 . GRCh38 chr11 1018207 1018207 + Missense_Mutation SNP T T C rs1321975656 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4594A>G p.Thr1532Ala p.T1532A ENST00000421673 31/33 NA NA NA NA NA NA MUC6,missense_variant,p.Thr1532Ala,ENST00000421673,NM_005961.3;MUC6,downstream_gene_variant,,ENST00000527242,;MUC6,upstream_gene_variant,,ENST00000532016,; C ENSG00000184956 ENST00000421673 Transcript missense_variant 4657/8016 4594/7320 1532/2439 T/A Aca/Gca rs1321975656 1 NA -1 MUC6 HGNC HGNC:7517 protein_coding YES CCDS44513.1 ENSP00000406861 Q6W4X9.123 UPI0000251DBE NM_005961.3 tolerated_low_confidence(0.11) benign(0.091) 31/33 PANTHER:PTHR11339,PANTHER:PTHR11339:SF264,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . GTG . 1056.6 4.722e-06 NA NA NA NA NA 1.036e-05 NA NA 1018207 MUC6 4588 . GRCh38 chr11 1018208 1018208 + Silent SNP G G A rs535925758 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4593C>T p.Ser1531= p.S1531= ENST00000421673 31/33 NA NA NA NA NA NA MUC6,synonymous_variant,p.Ser1531=,ENST00000421673,NM_005961.3;MUC6,downstream_gene_variant,,ENST00000527242,;MUC6,upstream_gene_variant,,ENST00000532016,; A ENSG00000184956 ENST00000421673 Transcript synonymous_variant 4656/8016 4593/7320 1531/2439 S tcC/tcT rs535925758 1 NA -1 MUC6 HGNC HGNC:7517 protein_coding YES CCDS44513.1 ENSP00000406861 Q6W4X9.123 UPI0000251DBE NM_005961.3 31/33 PANTHER:PTHR11339,PANTHER:PTHR11339:SF264,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg 2e-04 NA NA NA NA 0.001 NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . TGG . 1056.6 1.968e-05 NA NA NA NA NA 4.299e-05 NA NA 1018208 MUC6 4588 . GRCh38 chr11 1018228 1018228 + Silent SNP G G A rs777800148 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4573C>T p.Leu1525= p.L1525= ENST00000421673 31/33 NA NA NA NA NA NA MUC6,synonymous_variant,p.Leu1525=,ENST00000421673,NM_005961.3;MUC6,downstream_gene_variant,,ENST00000527242,;MUC6,upstream_gene_variant,,ENST00000532016,; A ENSG00000184956 ENST00000421673 Transcript synonymous_variant 4636/8016 4573/7320 1525/2439 L Cta/Tta rs777800148 1 NA -1 MUC6 HGNC HGNC:7517 protein_coding YES CCDS44513.1 ENSP00000406861 Q6W4X9.123 UPI0000251DBE NM_005961.3 31/33 PANTHER:PTHR11339,PANTHER:PTHR11339:SF264,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . AGC . 1945.6 4.006e-05 8.953e-05 NA NA NA NA 3.846e-05 0.0002245 9.966e-05 1018228 MUC6 4588 . GRCh38 chr11 1018263 1018263 + Missense_Mutation SNP T T G rs79680044 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4538A>C p.His1513Pro p.H1513P ENST00000421673 31/33 NA NA NA NA NA NA MUC6,missense_variant,p.His1513Pro,ENST00000421673,NM_005961.3;MUC6,downstream_gene_variant,,ENST00000527242,;MUC6,upstream_gene_variant,,ENST00000532016,; G ENSG00000184956 ENST00000421673 Transcript missense_variant 4601/8016 4538/7320 1513/2439 H/P cAc/cCc rs79680044 1 NA -1 MUC6 HGNC HGNC:7517 protein_coding YES CCDS44513.1 ENSP00000406861 Q6W4X9.123 UPI0000251DBE NM_005961.3 tolerated_low_confidence(0.38) benign(0) 31/33 PANTHER:PTHR11339,PANTHER:PTHR11339:SF264,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . GTG . 4901.6 NA NA NA NA NA NA NA NA NA 1018263 MUC6 4588 . GRCh38 chr11 1018313 1018313 + Silent SNP G G T rs75499910 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4488C>A p.Thr1496= p.T1496= ENST00000421673 31/33 NA NA NA NA NA NA MUC6,synonymous_variant,p.Thr1496=,ENST00000421673,NM_005961.3;MUC6,downstream_gene_variant,,ENST00000527242,;MUC6,upstream_gene_variant,,ENST00000532016,; T ENSG00000184956 ENST00000421673 Transcript synonymous_variant 4551/8016 4488/7320 1496/2439 T acC/acA rs75499910,COSV70143035 1 NA -1 MUC6 HGNC HGNC:7517 protein_coding YES CCDS44513.1 ENSP00000406861 Q6W4X9.123 UPI0000251DBE NM_005961.3 31/33 PANTHER:PTHR11339,PANTHER:PTHR11339:SF264 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA LOW 1 SNV 5 NA 0,1 NA NA . GGG . 444.6 4.046e-05 NA NA NA NA NA 5.352e-05 0.0005015 3.3e-05 1018313 MUC6 4588 . GRCh38 chr11 1018326 1018326 + Missense_Mutation SNP G G T rs370957489 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4475C>A p.Ala1492Asp p.A1492D ENST00000421673 31/33 NA NA NA NA NA NA MUC6,missense_variant,p.Ala1492Asp,ENST00000421673,NM_005961.3;MUC6,downstream_gene_variant,,ENST00000527242,;MUC6,upstream_gene_variant,,ENST00000532016,; T ENSG00000184956 ENST00000421673 Transcript missense_variant 4538/8016 4475/7320 1492/2439 A/D gCc/gAc rs370957489,COSV70139370 1 NA -1 MUC6 HGNC HGNC:7517 protein_coding YES CCDS44513.1 ENSP00000406861 Q6W4X9.123 UPI0000251DBE NM_005961.3 tolerated_low_confidence(0.43) benign(0) 31/33 PANTHER:PTHR11339,PANTHER:PTHR11339:SF264 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 5 NA 0,1 NA NA . GGC . 190.6 1.225e-05 NA NA NA NA NA 2.699e-05 NA NA 1018326 MUC6 4588 . GRCh38 chr11 1018327 1018327 + Missense_Mutation SNP C C T rs75068039 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4474G>A p.Ala1492Thr p.A1492T ENST00000421673 31/33 NA NA NA NA NA NA MUC6,missense_variant,p.Ala1492Thr,ENST00000421673,NM_005961.3;MUC6,downstream_gene_variant,,ENST00000527242,;MUC6,upstream_gene_variant,,ENST00000532016,; T ENSG00000184956 ENST00000421673 Transcript missense_variant 4537/8016 4474/7320 1492/2439 A/T Gcc/Acc rs75068039,COSV70148636 1 NA -1 MUC6 HGNC HGNC:7517 protein_coding YES CCDS44513.1 ENSP00000406861 Q6W4X9.123 UPI0000251DBE NM_005961.3 tolerated_low_confidence(0.46) benign(0) 31/33 PANTHER:PTHR11339,PANTHER:PTHR11339:SF264 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 5 NA 0,1 NA NA . GCC . 407.6 NA NA NA NA NA NA NA NA NA 1018327 MUC6 4588 . GRCh38 chr11 1018329 1018329 + Missense_Mutation SNP T T A rs75968137 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4472A>T p.Lys1491Met p.K1491M ENST00000421673 31/33 NA NA NA NA NA NA MUC6,missense_variant,p.Lys1491Met,ENST00000421673,NM_005961.3;MUC6,downstream_gene_variant,,ENST00000527242,;MUC6,upstream_gene_variant,,ENST00000532016,; A ENSG00000184956 ENST00000421673 Transcript missense_variant 4535/8016 4472/7320 1491/2439 K/M aAg/aTg rs75968137,COSV70143041 1 NA -1 MUC6 HGNC HGNC:7517 protein_coding YES CCDS44513.1 ENSP00000406861 Q6W4X9.123 UPI0000251DBE NM_005961.3 tolerated_low_confidence(0.2) benign(0) 31/33 PANTHER:PTHR11339,PANTHER:PTHR11339:SF264 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 5 NA 0,1 NA NA . CTT . 329.6 NA NA NA NA NA NA NA NA NA 1018329 MUC6 4588 . GRCh38 chr11 1018348 1018348 + Missense_Mutation SNP G G A rs202193006 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4453C>T p.Pro1485Ser p.P1485S ENST00000421673 31/33 NA NA NA NA NA NA MUC6,missense_variant,p.Pro1485Ser,ENST00000421673,NM_005961.3;MUC6,downstream_gene_variant,,ENST00000527242,;MUC6,upstream_gene_variant,,ENST00000532016,; A ENSG00000184956 ENST00000421673 Transcript missense_variant 4516/8016 4453/7320 1485/2439 P/S Cct/Tct rs202193006 1 NA -1 MUC6 HGNC HGNC:7517 protein_coding YES CCDS44513.1 ENSP00000406861 Q6W4X9.123 UPI0000251DBE NM_005961.3 tolerated_low_confidence(0.38) benign(0.03) 31/33 PANTHER:PTHR11339,PANTHER:PTHR11339:SF264 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . GGA . 847.6 4.814e-05 7.521e-05 3.472e-05 0.0002372 NA NA 4.452e-05 0.0001942 3.815e-05 1018348 MUC6 4588 . GRCh38 chr11 1018370 1018370 + Silent SNP G G A rs79953546 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4431C>T p.His1477= p.H1477= ENST00000421673 31/33 NA NA NA NA NA NA MUC6,synonymous_variant,p.His1477=,ENST00000421673,NM_005961.3;MUC6,downstream_gene_variant,,ENST00000527242,;MUC6,upstream_gene_variant,,ENST00000532016,; A ENSG00000184956 ENST00000421673 Transcript synonymous_variant 4494/8016 4431/7320 1477/2439 H caC/caT rs79953546,COSV70148648 1 NA -1 MUC6 HGNC HGNC:7517 protein_coding YES CCDS44513.1 ENSP00000406861 Q6W4X9.123 UPI0000251DBE NM_005961.3 31/33 PANTHER:PTHR11339,PANTHER:PTHR11339:SF264 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA LOW 1 SNV 5 NA 0,1 NA NA . AGT . 632.6 8.47e-06 NA 3.059e-05 NA NA NA 9.272e-06 NA NA 1018370 MUC6 4588 . GRCh38 chr11 1018379 1018379 + Silent SNP G G C rs765785447 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4422C>G p.Ala1474= p.A1474= ENST00000421673 31/33 NA NA NA NA NA NA MUC6,synonymous_variant,p.Ala1474=,ENST00000421673,NM_005961.3;MUC6,downstream_gene_variant,,ENST00000527242,;MUC6,upstream_gene_variant,,ENST00000532016,; C ENSG00000184956 ENST00000421673 Transcript synonymous_variant 4485/8016 4422/7320 1474/2439 A gcC/gcG rs765785447,COSV104436534 1 NA -1 MUC6 HGNC HGNC:7517 protein_coding YES CCDS44513.1 ENSP00000406861 Q6W4X9.123 UPI0000251DBE NM_005961.3 31/33 PANTHER:PTHR11339,PANTHER:PTHR11339:SF264 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA LOW 1 SNV 5 NA 0,1 NA NA . AGG . 2368.6 1.266e-05 NA NA NA 5.704e-05 NA 9.255e-06 0.0001767 NA 1018379 MUC6 4588 . GRCh38 chr11 1018385 1018385 + Silent SNP T T A rs7396380 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4416A>T p.Thr1472= p.T1472= ENST00000421673 31/33 NA NA NA NA NA NA MUC6,synonymous_variant,p.Thr1472=,ENST00000421673,NM_005961.3;MUC6,downstream_gene_variant,,ENST00000527242,;MUC6,upstream_gene_variant,,ENST00000532016,; A ENSG00000184956 ENST00000421673 Transcript synonymous_variant 4479/8016 4416/7320 1472/2439 T acA/acT rs7396380 1 NA -1 MUC6 HGNC HGNC:7517 protein_coding YES CCDS44513.1 ENSP00000406861 Q6W4X9.123 UPI0000251DBE NM_005961.3 31/33 PANTHER:PTHR11339,PANTHER:PTHR11339:SF264 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . ATG . 8268.6 NA NA NA NA NA NA NA NA NA 1018385 MUC6 4588 . GRCh38 chr11 1018496 1018496 + Silent SNP G G T rs67341709 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4305C>A p.Thr1435= p.T1435= ENST00000421673 31/33 NA NA NA NA NA NA MUC6,synonymous_variant,p.Thr1435=,ENST00000421673,NM_005961.3;MUC6,downstream_gene_variant,,ENST00000527242,;MUC6,upstream_gene_variant,,ENST00000532016,; T ENSG00000184956 ENST00000421673 Transcript synonymous_variant 4368/8016 4305/7320 1435/2439 T acC/acA rs67341709 1 NA -1 MUC6 HGNC HGNC:7517 protein_coding YES CCDS44513.1 ENSP00000406861 Q6W4X9.123 UPI0000251DBE NM_005961.3 31/33 PANTHER:PTHR11339,PANTHER:PTHR11339:SF264 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . GGG . 1054.6 NA NA NA NA NA NA NA NA NA 1018496 MUC2 4583 . GRCh38 chr11 1078157 1078157 + Missense_Mutation SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.588G>A p.Met196Ile p.M196I ENST00000675028 5/30 NA NA NA NA NA NA MUC2,missense_variant,p.Met196Ile,ENST00000675028,;MUC2,non_coding_transcript_exon_variant,,ENST00000361558,NM_002457.4; A ENSG00000198788 ENST00000675028 Transcript missense_variant 615/4209 588/4182 196/1394 M/I atG/atA 1 NA 1 MUC2 HGNC HGNC:7512 protein_coding YES ENSP00000502432 deleterious(0) benign(0.007) 5/30 PROSITE_profiles:PS51233,PANTHER:PTHR11339,PANTHER:PTHR11339:SF261 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV NA NA NA NA . TGC . 7080.6 NA NA NA NA NA NA NA NA NA 1078157 MUC2 4583 . GRCh38 chr11 1085816 1085816 + Missense_Mutation SNP C C A novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2344C>A p.Leu782Ile p.L782I ENST00000675028 18/30 NA NA NA NA NA NA MUC2,missense_variant,p.Leu782Ile,ENST00000675028,;MUC2,non_coding_transcript_exon_variant,,ENST00000361558,NM_002457.4; A ENSG00000198788 ENST00000675028 Transcript missense_variant 2371/4209 2344/4182 782/1394 L/I Ctc/Atc 1 NA 1 MUC2 HGNC HGNC:7512 protein_coding YES ENSP00000502432 tolerated(0.09) benign(0.001) 18/30 Gene3D:2.10.25.10,PANTHER:PTHR11339,PANTHER:PTHR11339:SF261,Superfamily:SSF57567 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV NA NA NA NA . CCT . 4737.6 NA NA NA NA NA NA NA NA NA 1085816 MUC5AC 4586 . GRCh38 chr11 1172511 1172511 + Silent SNP A A C rs996372487 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1953A>C p.Gly651= p.G651= ENST00000621226 16/49 NA NA NA NA NA NA MUC5AC,synonymous_variant,p.Gly651=,ENST00000621226,NM_001304359.2; C ENSG00000215182 ENST00000621226 Transcript synonymous_variant 2000/17448 1953/16965 651/5654 G ggA/ggC rs996372487 1 NA 1 MUC5AC HGNC HGNC:7515 protein_coding YES CCDS76369.1 ENSP00000485659 P98088.180 UPI0004F23658 NM_001304359.2 16/49 Pfam:PF08742,PANTHER:PTHR11339,PANTHER:PTHR11339:SF371,SMART:SM00832 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . GAA . 5106.6 NA NA NA NA NA NA NA NA NA 1172511 MUC5AC 4586 . GRCh38 chr11 1176525 1176525 + Silent SNP G G A rs879250989 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2514G>A p.Gln838= p.Q838= ENST00000621226 21/49 NA NA NA NA NA NA MUC5AC,synonymous_variant,p.Gln838=,ENST00000621226,NM_001304359.2; A ENSG00000215182 ENST00000621226 Transcript synonymous_variant 2561/17448 2514/16965 838/5654 Q caG/caA rs879250989 1 NA 1 MUC5AC HGNC HGNC:7515 protein_coding YES CCDS76369.1 ENSP00000485659 P98088.180 UPI0004F23658 NM_001304359.2 21/49 Gene3D:2.10.25.10,PANTHER:PTHR11339,PANTHER:PTHR11339:SF371,Superfamily:SSF57567 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . AGT . 1091.6 NA NA NA NA NA NA NA NA NA 1176525 MUC5AC 4586 . GRCh38 chr11 1179100 1179100 + Silent SNP G G A rs878944639 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3336G>A p.Pro1112= p.P1112= ENST00000621226 26/49 NA NA NA NA NA NA MUC5AC,synonymous_variant,p.Pro1112=,ENST00000621226,NM_001304359.2; A ENSG00000215182 ENST00000621226 Transcript synonymous_variant 3383/17448 3336/16965 1112/5654 P ccG/ccA rs878944639 1 NA 1 MUC5AC HGNC HGNC:7515 protein_coding YES CCDS76369.1 ENSP00000485659 P98088.180 UPI0004F23658 NM_001304359.2 26/49 Pfam:PF08742,PANTHER:PTHR11339,PANTHER:PTHR11339:SF371,SMART:SM00832 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . CGG . 3509.6 NA NA NA NA NA NA NA NA NA 1179100 MUC5AC 4586 . GRCh38 chr11 1182279 1182279 + Silent SNP A A G rs879201833 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4134A>G p.Ser1378= p.S1378= ENST00000621226 31/49 NA NA NA NA NA NA MUC5AC,synonymous_variant,p.Ser1378=,ENST00000621226,NM_001304359.2; G ENSG00000215182 ENST00000621226 Transcript synonymous_variant 4181/17448 4134/16965 1378/5654 S tcA/tcG rs879201833 1 NA 1 MUC5AC HGNC HGNC:7515 protein_coding YES CCDS76369.1 ENSP00000485659 P98088.180 UPI0004F23658 NM_001304359.2 31/49 PANTHER:PTHR11339,PANTHER:PTHR11339:SF371 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . CAC . 7689.6 NA NA NA NA NA NA NA NA NA 1182279 MUC5AC 4586 . GRCh38 chr11 1182438 1182438 + Silent SNP T T C rs878891580 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4293T>C p.Ala1431= p.A1431= ENST00000621226 31/49 NA NA NA NA NA NA MUC5AC,synonymous_variant,p.Ala1431=,ENST00000621226,NM_001304359.2; C ENSG00000215182 ENST00000621226 Transcript synonymous_variant 4340/17448 4293/16965 1431/5654 A gcT/gcC rs878891580 1 NA 1 MUC5AC HGNC HGNC:7515 protein_coding YES CCDS76369.1 ENSP00000485659 P98088.180 UPI0004F23658 NM_001304359.2 31/49 Pfam:PF13330,PANTHER:PTHR11339,PANTHER:PTHR11339:SF371 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . CTG . 5147.6 NA NA NA NA NA NA NA NA NA 1182438 MUC5AC 4586 . GRCh38 chr11 1182583 1182583 + Missense_Mutation SNP C C G rs878989392 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4438C>G p.Pro1480Ala p.P1480A ENST00000621226 31/49 NA NA NA NA NA NA MUC5AC,missense_variant,p.Pro1480Ala,ENST00000621226,NM_001304359.2; G ENSG00000215182 ENST00000621226 Transcript missense_variant 4485/17448 4438/16965 1480/5654 P/A Ccc/Gcc rs878989392 1 NA 1 MUC5AC HGNC HGNC:7515 protein_coding YES CCDS76369.1 ENSP00000485659 P98088.180 UPI0004F23658 NM_001304359.2 tolerated(0.65) unknown(0) 31/49 PANTHER:PTHR11339,PANTHER:PTHR11339:SF371,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . ACC . 3516.6 NA NA NA NA NA NA NA NA NA 1182583 MUC5AC 4586 . GRCh38 chr11 1183358 1183358 + Missense_Mutation SNP T T C rs879118927 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.5213T>C p.Leu1738Pro p.L1738P ENST00000621226 31/49 NA NA NA NA NA NA MUC5AC,missense_variant,p.Leu1738Pro,ENST00000621226,NM_001304359.2; C ENSG00000215182 ENST00000621226 Transcript missense_variant 5260/17448 5213/16965 1738/5654 L/P cTa/cCa rs879118927 1 NA 1 MUC5AC HGNC HGNC:7515 protein_coding YES CCDS76369.1 ENSP00000485659 P98088.180 UPI0004F23658 NM_001304359.2 tolerated(0.35) unknown(0) 31/49 PANTHER:PTHR11339,PANTHER:PTHR11339:SF371 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . CTA . 778.6 NA NA NA NA NA NA NA NA NA 1183358 MUC5AC 4586 . GRCh38 chr11 1183769 1183769 + Missense_Mutation SNP A A G rs74196458 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.5624A>G p.Gln1875Arg p.Q1875R ENST00000621226 31/49 NA NA NA NA NA NA MUC5AC,missense_variant,p.Gln1875Arg,ENST00000621226,NM_001304359.2; G ENSG00000215182 ENST00000621226 Transcript missense_variant 5671/17448 5624/16965 1875/5654 Q/R cAg/cGg rs74196458 1 NA 1 MUC5AC HGNC HGNC:7515 protein_coding YES CCDS76369.1 ENSP00000485659 P98088.180 UPI0004F23658 NM_001304359.2 tolerated(0.59) unknown(0) 31/49 MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . CAG . 4043.6 NA NA NA NA NA NA NA NA NA 1183769 MUC5AC 4586 . GRCh38 chr11 1184516 1184516 + Missense_Mutation SNP C C A rs1201547484 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.6371C>A p.Thr2124Lys p.T2124K ENST00000621226 31/49 NA NA NA NA NA NA MUC5AC,missense_variant,p.Thr2124Lys,ENST00000621226,NM_001304359.2; A ENSG00000215182 ENST00000621226 Transcript missense_variant 6418/17448 6371/16965 2124/5654 T/K aCg/aAg rs1201547484 1 NA 1 MUC5AC HGNC HGNC:7515 protein_coding YES CCDS76369.1 ENSP00000485659 P98088.180 UPI0004F23658 NM_001304359.2 tolerated(1) unknown(0) 31/49 Pfam:PF13330,PANTHER:PTHR11339,PANTHER:PTHR11339:SF371 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . ACG . 7011.6 NA NA NA NA NA NA NA NA NA 1184516 MUC5AC 4586 . GRCh38 chr11 1184858 1184858 + Missense_Mutation SNP C C T rs1270123330 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.6713C>T p.Thr2238Ile p.T2238I ENST00000621226 31/49 NA NA NA NA NA NA MUC5AC,missense_variant,p.Thr2238Ile,ENST00000621226,NM_001304359.2; T ENSG00000215182 ENST00000621226 Transcript missense_variant 6760/17448 6713/16965 2238/5654 T/I aCc/aTc rs1270123330 1 NA 1 MUC5AC HGNC HGNC:7515 protein_coding YES CCDS76369.1 ENSP00000485659 P98088.180 UPI0004F23658 NM_001304359.2 tolerated(0.21) unknown(0) 31/49 MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . ACC . 21123.03 NA NA NA NA NA NA NA NA NA 1184858 MUC5AC 4586 . GRCh38 chr11 1185300 1185300 + Silent SNP C C A rs1431354899 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.7155C>A p.Thr2385= p.T2385= ENST00000621226 31/49 NA NA NA NA NA NA MUC5AC,synonymous_variant,p.Thr2385=,ENST00000621226,NM_001304359.2; A ENSG00000215182 ENST00000621226 Transcript synonymous_variant 7202/17448 7155/16965 2385/5654 T acC/acA rs1431354899 1 NA 1 MUC5AC HGNC HGNC:7515 protein_coding YES CCDS76369.1 ENSP00000485659 P98088.180 UPI0004F23658 NM_001304359.2 31/49 MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . CCA . 20437.6 NA NA NA NA NA NA NA NA NA 1185300 MUC5AC 4586 . GRCh38 chr11 1186164 1186165 + In_Frame_Ins INS - - ACCAGCACAACTTCTGCTTCTACA rs1564914276 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.8031_8054dup p.Ala2687_Ser2694dup p.A2687_S2694dup ENST00000621226 31/49 NA NA NA NA NA NA MUC5AC,inframe_insertion,p.Ala2687_Ser2694dup,ENST00000621226,NM_001304359.2; ACCAGCACAACTTCTGCTTCTACA ENSG00000215182 ENST00000621226 Transcript inframe_insertion 8066-8067/17448 8019-8020/16965 2673-2674/5654 -/TSTTSAST -/ACCAGCACAACTTCTGCTTCTACA rs1564914276 1 NA 1 MUC5AC HGNC HGNC:7515 protein_coding YES CCDS76369.1 ENSP00000485659 P98088.180 UPI0004F23658 NM_001304359.2 31/49 MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 insertion 5 35 NA NA . CCA . 13503.64 NA NA NA NA NA NA NA NA NA 1186164 MUC5AC 4586 . GRCh38 chr11 1186303 1186303 + Missense_Mutation SNP C C T rs1191022121 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.8158C>T p.Pro2720Ser p.P2720S ENST00000621226 31/49 NA NA NA NA NA NA MUC5AC,missense_variant,p.Pro2720Ser,ENST00000621226,NM_001304359.2; T ENSG00000215182 ENST00000621226 Transcript missense_variant 8205/17448 8158/16965 2720/5654 P/S Cct/Tct rs1191022121 1 NA 1 MUC5AC HGNC HGNC:7515 protein_coding YES CCDS76369.1 ENSP00000485659 P98088.180 UPI0004F23658 NM_001304359.2 tolerated(0.46) unknown(0) 31/49 MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . CCC . 27196.6 NA NA NA NA NA NA NA NA NA 1186303 MUC5AC 4586 . GRCh38 chr11 1186317 1186317 + Silent SNP A A T rs1257981651 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.8172A>T p.Thr2724= p.T2724= ENST00000621226 31/49 NA NA NA NA NA NA MUC5AC,synonymous_variant,p.Thr2724=,ENST00000621226,NM_001304359.2; T ENSG00000215182 ENST00000621226 Transcript synonymous_variant 8219/17448 8172/16965 2724/5654 T acA/acT rs1257981651 1 NA 1 MUC5AC HGNC HGNC:7515 protein_coding YES CCDS76369.1 ENSP00000485659 P98088.180 UPI0004F23658 NM_001304359.2 31/49 MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . CAA . 26437.6 NA NA NA NA NA NA NA NA NA 1186317 MUC5AC 4586 . GRCh38 chr11 1186818 1186818 + Silent SNP T T C rs1350264670 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.8673T>C p.Ser2891= p.S2891= ENST00000621226 31/49 NA NA NA NA NA NA MUC5AC,synonymous_variant,p.Ser2891=,ENST00000621226,NM_001304359.2; C ENSG00000215182 ENST00000621226 Transcript synonymous_variant 8720/17448 8673/16965 2891/5654 S agT/agC rs1350264670 1 NA 1 MUC5AC HGNC HGNC:7515 protein_coding YES CCDS76369.1 ENSP00000485659 P98088.180 UPI0004F23658 NM_001304359.2 31/49 PANTHER:PTHR11339,PANTHER:PTHR11339:SF371,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . GTA . 24587.6 NA NA NA NA NA NA NA NA NA 1186818 MUC5AC 4586 . GRCh38 chr11 1187284 1187284 + Missense_Mutation SNP T T A rs1464458886 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.9139T>A p.Ser3047Thr p.S3047T ENST00000621226 31/49 NA NA NA NA NA NA MUC5AC,missense_variant,p.Ser3047Thr,ENST00000621226,NM_001304359.2; A ENSG00000215182 ENST00000621226 Transcript missense_variant 9186/17448 9139/16965 3047/5654 S/T Tct/Act rs1464458886 1 NA 1 MUC5AC HGNC HGNC:7515 protein_coding YES CCDS76369.1 ENSP00000485659 P98088.180 UPI0004F23658 NM_001304359.2 tolerated_low_confidence(0.7) unknown(0) 31/49 PANTHER:PTHR11339,PANTHER:PTHR11339:SF371,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . CTC . 45681.03 NA NA NA NA NA NA NA NA NA 1187284 MUC5AC 4586 . GRCh38 chr11 1187845 1187845 + Missense_Mutation SNP A A G rs1554928359 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.9700A>G p.Ile3234Val p.I3234V ENST00000621226 31/49 NA NA NA NA NA NA MUC5AC,missense_variant,p.Ile3234Val,ENST00000621226,NM_001304359.2; G ENSG00000215182 ENST00000621226 Transcript missense_variant 9747/17448 9700/16965 3234/5654 I/V Ata/Gta rs1554928359 1 NA 1 MUC5AC HGNC HGNC:7515 protein_coding YES CCDS76369.1 ENSP00000485659 P98088.180 UPI0004F23658 NM_001304359.2 tolerated(1) unknown(0) 31/49 Pfam:PF13330,PANTHER:PTHR11339,PANTHER:PTHR11339:SF371 NA 0.9939 1 NA 1 1 1 NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . CAT . 29011.03 NA NA NA NA NA NA NA NA NA 1187845 MUC5AC 4586 . GRCh38 chr11 1187988 1187988 + Silent SNP T T C rs1554928434 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.9843T>C p.Ile3281= p.I3281= ENST00000621226 31/49 NA NA NA NA NA NA MUC5AC,synonymous_variant,p.Ile3281=,ENST00000621226,NM_001304359.2; C ENSG00000215182 ENST00000621226 Transcript synonymous_variant 9890/17448 9843/16965 3281/5654 I atT/atC rs1554928434 1 NA 1 MUC5AC HGNC HGNC:7515 protein_coding YES CCDS76369.1 ENSP00000485659 P98088.180 UPI0004F23658 NM_001304359.2 31/49 Pfam:PF13330,PANTHER:PTHR11339,PANTHER:PTHR11339:SF371 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . TTG . 7117.6 NA NA NA NA NA NA NA NA NA 1187988 MUC5AC 4586 . GRCh38 chr11 1188586 1188586 + Missense_Mutation SNP G G A rs1201597847 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.10441G>A p.Gly3481Ser p.G3481S ENST00000621226 31/49 NA NA NA NA NA NA MUC5AC,missense_variant,p.Gly3481Ser,ENST00000621226,NM_001304359.2; A ENSG00000215182 ENST00000621226 Transcript missense_variant 10488/17448 10441/16965 3481/5654 G/S Ggt/Agt rs1201597847 1 NA 1 MUC5AC HGNC HGNC:7515 protein_coding YES CCDS76369.1 ENSP00000485659 P98088.180 UPI0004F23658 NM_001304359.2 tolerated(0.92) unknown(0) 31/49 PANTHER:PTHR11339,PANTHER:PTHR11339:SF371,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . CGG . 17903.6 NA NA NA NA NA NA NA NA NA 1188586 MUC5AC 4586 . GRCh38 chr11 1188738 1188738 + Silent SNP T T C rs1408588895 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.10593T>C p.Asp3531= p.D3531= ENST00000621226 31/49 NA NA NA NA NA NA MUC5AC,synonymous_variant,p.Asp3531=,ENST00000621226,NM_001304359.2; C ENSG00000215182 ENST00000621226 Transcript synonymous_variant 10640/17448 10593/16965 3531/5654 D gaT/gaC rs1408588895 1 NA 1 MUC5AC HGNC HGNC:7515 protein_coding YES CCDS76369.1 ENSP00000485659 P98088.180 UPI0004F23658 NM_001304359.2 31/49 Pfam:PF13330,PANTHER:PTHR11339,PANTHER:PTHR11339:SF371 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . ATG . 11467.6 NA NA NA NA NA NA NA NA NA 1188738 MUC5AC 4586 . GRCh38 chr11 1188914 1188914 + Missense_Mutation SNP G G A rs1379997765 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.10769G>A p.Arg3590His p.R3590H ENST00000621226 31/49 NA NA NA NA NA NA MUC5AC,missense_variant,p.Arg3590His,ENST00000621226,NM_001304359.2; A ENSG00000215182 ENST00000621226 Transcript missense_variant 10816/17448 10769/16965 3590/5654 R/H cGc/cAc rs1379997765 1 NA 1 MUC5AC HGNC HGNC:7515 protein_coding YES CCDS76369.1 ENSP00000485659 P98088.180 UPI0004F23658 NM_001304359.2 tolerated(0.43) benign(0.028) 31/49 Pfam:PF13330,PANTHER:PTHR11339,PANTHER:PTHR11339:SF371 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . CGC . 8789.6 NA NA NA NA NA NA NA NA NA 1188914 MUC5AC 4586 . GRCh38 chr11 1190169 1190169 + Silent SNP G G A rs1227347422 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.12024G>A p.Pro4008= p.P4008= ENST00000621226 31/49 NA NA NA NA NA NA MUC5AC,synonymous_variant,p.Pro4008=,ENST00000621226,NM_001304359.2; A ENSG00000215182 ENST00000621226 Transcript synonymous_variant 12071/17448 12024/16965 4008/5654 P ccG/ccA rs1227347422 1 NA 1 MUC5AC HGNC HGNC:7515 protein_coding YES CCDS76369.1 ENSP00000485659 P98088.180 UPI0004F23658 NM_001304359.2 31/49 Pfam:PF13330,PANTHER:PTHR11339,PANTHER:PTHR11339:SF371 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . CGG . 7388.6 NA NA NA NA NA NA NA NA NA 1190169 MUC5AC 4586 . GRCh38 chr11 1191524 1191524 + Missense_Mutation SNP T T C rs1313970078 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.13379T>C p.Leu4460Pro p.L4460P ENST00000621226 31/49 NA NA NA NA NA NA MUC5AC,missense_variant,p.Leu4460Pro,ENST00000621226,NM_001304359.2; C ENSG00000215182 ENST00000621226 Transcript missense_variant 13426/17448 13379/16965 4460/5654 L/P cTc/cCc rs1313970078 1 NA 1 MUC5AC HGNC HGNC:7515 protein_coding YES CCDS76369.1 ENSP00000485659 P98088.180 UPI0004F23658 NM_001304359.2 tolerated(0.25) unknown(0) 31/49 MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . CTC . 69619.03 NA NA NA NA NA NA NA NA NA 1191524 MUC5AC 4586 . GRCh38 chr11 1191527 1191527 + Missense_Mutation SNP C C T rs1393703418 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.13382C>T p.Pro4461Leu p.P4461L ENST00000621226 31/49 NA NA NA NA NA NA MUC5AC,missense_variant,p.Pro4461Leu,ENST00000621226,NM_001304359.2; T ENSG00000215182 ENST00000621226 Transcript missense_variant 13429/17448 13382/16965 4461/5654 P/L cCt/cTt rs1393703418 1 NA 1 MUC5AC HGNC HGNC:7515 protein_coding YES CCDS76369.1 ENSP00000485659 P98088.180 UPI0004F23658 NM_001304359.2 deleterious(0.01) unknown(0) 31/49 MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . CCT . 69244.03 NA NA NA NA NA NA NA NA NA 1191527 MUC5AC 4586 . GRCh38 chr11 1195112 1195112 + Silent SNP C C T rs1028705525 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.15291C>T p.Pro5097= p.P5097= ENST00000621226 36/49 NA NA NA NA NA NA MUC5AC,synonymous_variant,p.Pro5097=,ENST00000621226,NM_001304359.2; T ENSG00000215182 ENST00000621226 Transcript synonymous_variant 15338/17448 15291/16965 5097/5654 P ccC/ccT rs1028705525 1 NA 1 MUC5AC HGNC HGNC:7515 protein_coding YES CCDS76369.1 ENSP00000485659 P98088.180 UPI0004F23658 NM_001304359.2 36/49 PROSITE_profiles:PS51233,PANTHER:PTHR11339,PANTHER:PTHR11339:SF371 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . CCG . 28703.03 NA NA NA NA NA NA NA NA NA 1195112 MUC5B 727897 . GRCh38 chr11 1258168 1258170 + In_Frame_Del DEL AGG AGG - novel NA HCI-EC-23 NORMAL AGG AGG NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.16526_16528del p.Glu5509del p.E5509del ENST00000529681 42/49 NA NA NA NA NA NA MUC5B,inframe_deletion,p.Glu5509del,ENST00000529681,NM_002458.3;MUC5B,inframe_deletion,p.Glu54del,ENST00000526859,;MIR6744,downstream_gene_variant,,ENST00000619480,;MUC5B,upstream_gene_variant,,ENST00000527802,; - ENSG00000117983 ENST00000529681 Transcript inframe_deletion 16578-16580/17911 16520-16522/17289 5507-5508/5762 QE/Q cAGGag/cag 1 NA 1 MUC5B HGNC HGNC:7516 protein_coding YES CCDS44515.2 ENSP00000436812 Q9HC84.170 UPI0001DD21C7 NM_002458.3 42/49 PANTHER:PTHR11339,PANTHER:PTHR11339:SF269 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 deletion 5 6 NA 1 . CCAGGA . 9852.6 NA NA NA NA NA NA NA NA NA 1258167 KRTAP5-1 387264 . GRCh38 chr11 1584674 1584675 + In_Frame_Ins INS - - CCCCCACAAGAACCGCAGCCCCCCTTGCAGCCTCCACAGGAGCCACAGCCCCCCTTGGAG novel NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.516_575dup p.Cys180_Ser199dup p.C180_S199dup ENST00000382171 1/1 NA NA NA NA NA NA KRTAP5-1,inframe_insertion,p.Cys180_Ser199dup,ENST00000382171,NM_001005922.1;KRTAP5-AS1,intron_variant,,ENST00000424148,;KRTAP5-AS1,intron_variant,,ENST00000524947,;KRTAP5-AS1,intron_variant,,ENST00000532922,;KRTAP5-AS1,intron_variant,,ENST00000534077,;KRTAP5-AS1,intron_variant,,ENST00000659213,;,regulatory_region_variant,,ENSR00000952347,; CCCCCACAAGAACCGCAGCCCCCCTTGCAGCCTCCACAGGAGCCACAGCCCCCCTTGGAG ENSG00000205869 ENST00000382171 Transcript inframe_insertion 609-610/942 575-576/837 192/278 G/GSKGGCGSCGGCKGGCGSCGG gga/ggCTCCAAGGGGGGCTGTGGCTCCTGTGGAGGCTGCAAGGGGGGCTGCGGTTCTTGTGGGGGa 1 NA -1 KRTAP5-1 HGNC HGNC:23596 protein_coding YES CCDS31330.1 ENSP00000371606 Q6L8H4.100 UPI000037605D NM_001005922.1 1/1 PANTHER:PTHR23262,PANTHER:PTHR23262:SF130,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE NA insertion NA NA NA NA . ATC . 699.64 NA NA NA NA NA NA NA NA NA 1584674 KRTAP5-3 387266 . GRCh38 chr11 1607762 1607762 + Silent SNP G G A rs60210378 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.624C>T p.Gly208= p.G208= ENST00000399685 1/1 NA NA NA NA NA NA KRTAP5-3,synonymous_variant,p.Gly208=,ENST00000399685,NM_001012708.2;,regulatory_region_variant,,ENSR00000421375,; A ENSG00000196224 ENST00000399685 Transcript synonymous_variant 702/899 624/717 208/238 G ggC/ggT rs60210378,COSV68791260 1 NA -1 KRTAP5-3 HGNC HGNC:23598 protein_coding YES CCDS41591.1 ENSP00000382592 Q6L8H2.105 UPI000037605E NM_001012708.2 1/1 PANTHER:PTHR23262,PANTHER:PTHR23262:SF134,Low_complexity_(Seg):seg 0.4611 0.4939 0.4467 NA 0.3879 0.5239 0.4376 NA NA 0,1 NA NA NA NA LOW 1 SNV NA NA 0,1 NA NA . AGC . 11385.6 NA NA NA NA NA NA NA NA NA 1607762 KRTAP5-5 439915 . GRCh38 chr11 1629939 1629939 + Silent SNP T T C rs71454095 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.99T>C p.Ser33= p.S33= ENST00000399676 1/1 NA NA NA NA NA NA KRTAP5-5,synonymous_variant,p.Ser33=,ENST00000399676,NM_001001480.2; C ENSG00000185940 ENST00000399676 Transcript synonymous_variant 165/933 99/714 33/237 S tcT/tcC rs71454095 1 NA 1 KRTAP5-5 HGNC HGNC:23601 protein_coding YES CCDS41592.1 ENSP00000382584 Q701N2.106 UPI0000E592E5 NM_001001480.2 1/1 Low_complexity_(Seg):seg NA 0.643 0.4827 NA 0.4018 0.5527 0.5041 0.5849 0.5453 NA NA NA NA LOW 1 SNV NA NA NA NA . CTG . 2323.6 NA NA NA NA NA NA NA NA NA 1629939 KRTAP5-5 439915 . GRCh38 chr11 1629969 1629970 + In_Frame_Ins INS - - GGCTGTGGCTCC rs71025763 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.137_138insCTCCGGCTGTGG p.Gly46_Gly47insSerGlyCysGly p.G46_G47insSGCG ENST00000399676 1/1 NA NA NA NA NA NA KRTAP5-5,inframe_insertion,p.Gly46_Gly47insSerGlyCysGly,ENST00000399676,NM_001001480.2; GGCTGTGGCTCC ENSG00000185940 ENST00000399676 Transcript inframe_insertion 195-196/933 129-130/714 43-44/237 -/GCGS -/GGCTGTGGCTCC rs71025763,COSV68785137 1 NA 1 KRTAP5-5 HGNC HGNC:23601 protein_coding YES CCDS41592.1 ENSP00000382584 Q701N2.106 UPI0000E592E5 NM_001001480.2 1/1 Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 insertion NA 8 0,1 NA NA . GAG . 689.07 NA NA NA NA NA NA NA NA NA 1629969 TRPM5 29850 . GRCh38 chr11 2420370 2420370 + Silent SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.501C>T p.Gly167= p.G167= ENST00000533060 4/24 NA NA NA NA NA NA TRPM5,synonymous_variant,p.Gly167=,ENST00000155858,NM_014555.3;TRPM5,synonymous_variant,p.Gly161=,ENST00000533881,;TRPM5,synonymous_variant,p.Gly167=,ENST00000533060,;TRPM5,synonymous_variant,p.Gly167=,ENST00000528453,;,regulatory_region_variant,,ENSR00000262432,;,regulatory_region_variant,,ENSR00000952467,; A ENSG00000070985 ENST00000533060 Transcript synonymous_variant 507/3562 501/3522 167/1173 G ggC/ggT 1 NA -1 TRPM5 HGNC HGNC:14323 protein_coding YES ENSP00000434121 E9PRW0.61 UPI0001F78504 4/24 PANTHER:PTHR13800:SF5,PANTHER:PTHR13800,Pfam:PF18139 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . CGC . 2479.6 NA NA NA NA NA NA NA NA NA 2420370 KCNQ1 3784 . GRCh38 chr11 2588816 2588816 + Missense_Mutation SNP G G T rs145229963 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1355G>T p.Arg452Leu p.R452L ENST00000155840 10/16 NA NA NA NA NA NA KCNQ1,missense_variant,p.Arg452Leu,ENST00000155840,NM_000218.3;KCNQ1,missense_variant,p.Arg325Leu,ENST00000335475,NM_181798.1;KCNQ1,missense_variant,p.Arg154Leu,ENST00000646564,; T ENSG00000053918 ENST00000155840 Transcript missense_variant 1446/3224 1355/2031 452/676 R/L cGg/cTg rs145229963 1 NA 1 KCNQ1 HGNC HGNC:6294 protein_coding YES CCDS7736.1 ENSP00000155840 P51787.214 UPI000004662D NM_000218.3 tolerated(0.1) benign(0.007) 10/16 PDB-ENSP_mappings:4umo.A,PDB-ENSP_mappings:4umo.B,PDB-ENSP_mappings:4v0c.A,PDB-ENSP_mappings:4v0c.B,PDB-ENSP_mappings:6uzz.A,PDB-ENSP_mappings:6uzz.C,PDB-ENSP_mappings:6uzz.E,PDB-ENSP_mappings:6uzz.G,PDB-ENSP_mappings:6v00.A,PDB-ENSP_mappings:6v00.D,PDB-ENSP_mappings:6v00.G,PDB-ENSP_mappings:6v00.J,PDB-ENSP_mappings:6v01.A,PDB-ENSP_mappings:6v01.D,PDB-ENSP_mappings:6v01.G,PDB-ENSP_mappings:6v01.J,Prints:PR01460,PANTHER:PTHR11537,PANTHER:PTHR11537:SF144 NA NA NA NA NA NA NA NA NA pathogenic 22581653,19841300 NA NA NA NA MODERATE 1 SNV 1 NA 1 NA 1 . CGG . 11555.6 8.009e-06 NA NA NA NA NA 8.871e-06 0.0001639 NA 2588816 OR51E2 81285 . GRCh38 chr11 4682324 4682324 + Missense_Mutation SNP G G A rs757545384 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.388C>T p.Arg130Cys p.R130C ENST00000396950 2/2 NA NA NA NA NA NA OR51E2,missense_variant,p.Arg130Cys,ENST00000396950,NM_030774.4;OR51E2,missense_variant,p.Arg130Cys,ENST00000641638,;OR51E2,downstream_gene_variant,,ENST00000532598,; A ENSG00000167332 ENST00000396950 Transcript missense_variant 639/2792 388/963 130/320 R/C Cgc/Tgc rs757545384,COSV101211322,COSV101211398 1 NA -1 OR51E2 HGNC HGNC:15195 protein_coding YES CCDS7751.1 ENSP00000380153 Q9H255.161 A0A126GVK0.30 UPI000003B49B NM_030774.4 deleterious(0) probably_damaging(0.935) 2/2 Gene3D:1.20.1070.10,Pfam:PF13853,Prints:PR00245,PROSITE_profiles:PS50262,PANTHER:PTHR26450,PANTHER:PTHR26450:SF92,Superfamily:SSF81321,CDD:cd15222 NA NA NA NA NA NA NA NA NA 0,1,1 NA NA NA NA MODERATE 1 SNV NA NA 0,1,1 NA NA . CGC . 3501.6 1.194e-05 NA NA NA NA 4.621e-05 1.762e-05 NA NA 4682324 OR51B6 390058 . GRCh38 chr11 5351517 5351517 + Missense_Mutation SNP A A G novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.10A>G p.Asn4Asp p.N4D ENST00000380219 1/1 NA NA NA NA NA NA OR51B6,missense_variant,p.Asn4Asp,ENST00000380219,NM_001004750.1;HBE1,intron_variant,,ENST00000292896,;HBE1,intron_variant,,ENST00000380237,;HBG2,intron_variant,,ENST00000380252,;OR51B5,intron_variant,,ENST00000415970,;OR51B5,intron_variant,,ENST00000420465,;OR51B5,intron_variant,,ENST00000420726,;AC104389.5,intron_variant,,ENST00000380259,;OR51B5,intron_variant,,ENST00000418729,;AC104389.3,upstream_gene_variant,,ENST00000450768,; G ENSG00000176239 ENST00000380219 Transcript missense_variant 10/939 10/939 4/312 N/D Aat/Gat 1 NA 1 OR51B6 HGNC HGNC:19600 protein_coding YES CCDS31379.1 ENSP00000369568 Q9H340.137 UPI000014017D NM_001004750.1 deleterious(0.04) possibly_damaging(0.611) 1/1 PANTHER:PTHR26450:SF22,PANTHER:PTHR26450 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE NA SNV NA NA NA NA . CAA . 3012.6 NA NA NA NA NA NA NA NA NA 5351517 APBB1 322 . GRCh38 chr11 6410710 6410710 + Missense_Mutation SNP C C T rs1178890393 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.638G>A p.Arg213Gln p.R213Q ENST00000389906 2/14 NA NA NA NA NA NA APBB1,missense_variant,p.Arg213Gln,ENST00000389906,;APBB1,missense_variant,p.Arg213Gln,ENST00000609360,NM_001164.5;APBB1,missense_variant,p.Arg213Gln,ENST00000299402,;APBB1,missense_variant,p.Arg213Gln,ENST00000311051,NM_145689.3;APBB1,intron_variant,,ENST00000532020,;APBB1,missense_variant,p.Arg213Gln,ENST00000608435,;APBB1,intron_variant,,ENST00000533407,; T ENSG00000166313 ENST00000389906 Transcript missense_variant 779/2684 638/2133 213/710 R/Q cGg/cAg rs1178890393,COSV54975111 1 NA -1 APBB1 HGNC HGNC:581 protein_coding YES ENSP00000374556 J3KPL8.59 UPI00015DFF9C tolerated(1) probably_damaging(0.963) 2/14 MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite,PANTHER:PTHR14058,PANTHER:PTHR14058:SF5 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 5 NA 0,1 NA NA . CCG . 2711.6 NA NA NA NA NA NA NA NA NA 6410710 DNHD1 144132 . GRCh38 chr11 6546665 6546666 + In_Frame_Ins INS - - TGCCCTACTGCA rs11268490 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.5737_5738insATGCCCTACTGC p.Leu1912_Arg1913insHisAlaLeuLeu p.L1912_R1913insHALL ENST00000254579 21/43 NA NA NA NA NA NA DNHD1,inframe_insertion,p.Leu1912_Arg1913insHisAlaLeuLeu,ENST00000254579,NM_144666.3;DNHD1,3_prime_UTR_variant,,ENST00000532027,;DNHD1,non_coding_transcript_exon_variant,,ENST00000533649,;DNHD1,intron_variant,,ENST00000534210,; TGCCCTACTGCA ENSG00000179532 ENST00000254579 Transcript inframe_insertion 6306-6307/14876 5726-5727/14262 1909/4753 A/AALLH gct/gcTGCCCTACTGCAt rs11268490 1 NA 1 DNHD1 HGNC HGNC:26532 protein_coding YES CCDS44532.1 ENSP00000254579 Q96M86.137 UPI0001929529 NM_144666.3 21/43 Pfam:PF12774,PANTHER:PTHR10676,PANTHER:PTHR10676:SF359 NA 0.9864 0.9942 NA 0.998 0.998 0.9969 0.9251 0.939 NA NA NA NA MODERATE 1 insertion 5 11 NA NA . GCT . 14819.06 NA NA NA NA NA NA NA NA NA 6546665 ILK 3611 . GRCh38 chr11 6608161 6608162 + Frame_Shift_Ins INS - - C rs776120061 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.211dup p.Leu71ProfsTer11 p.L71Pfs*11 ENST00000537806 3/12 NA NA NA NA NA NA ILK,frameshift_variant,p.Leu71ProfsTer11,ENST00000396751,NM_001014795.3;ILK,frameshift_variant,p.Leu71ProfsTer11,ENST00000537806,;ILK,frameshift_variant,p.Leu71ProfsTer11,ENST00000299421,NM_004517.4,NM_001014794.3;ILK,frameshift_variant,p.Leu71ProfsTer11,ENST00000420936,;ILK,frameshift_variant,p.Leu71ProfsTer11,ENST00000528995,NM_001278441.2;ILK,frameshift_variant,p.Leu63ProfsTer11,ENST00000526318,;TAF10,3_prime_UTR_variant,,ENST00000299424,NM_006284.4;ILK,intron_variant,,ENST00000532063,NM_001278442.1;RRP8,upstream_gene_variant,,ENST00000254605,NM_015324.4;TPP1,downstream_gene_variant,,ENST00000299427,NM_000391.4;TAF10,downstream_gene_variant,,ENST00000527248,;TPP1,downstream_gene_variant,,ENST00000533371,;RRP8,upstream_gene_variant,,ENST00000534343,;ILK,downstream_gene_variant,,ENST00000627400,;TPP1,downstream_gene_variant,,ENST00000642892,;TPP1,downstream_gene_variant,,ENST00000643516,;TPP1,downstream_gene_variant,,ENST00000644218,;TPP1,downstream_gene_variant,,ENST00000644810,;TPP1,downstream_gene_variant,,ENST00000645620,;TPP1,downstream_gene_variant,,ENST00000647152,;AC091564.2,upstream_gene_variant,,ENST00000527191,;AC091564.3,downstream_gene_variant,,ENST00000527398,;ILK,non_coding_transcript_exon_variant,,ENST00000524735,;TAF10,downstream_gene_variant,,ENST00000531760,;ILK,downstream_gene_variant,,ENST00000534565,;ILK,upstream_gene_variant,,ENST00000534706,;ILK,3_prime_UTR_variant,,ENST00000527121,;ILK,3_prime_UTR_variant,,ENST00000526114,;TAF10,non_coding_transcript_exon_variant,,ENST00000616342,;ILK,non_coding_transcript_exon_variant,,ENST00000530016,;ILK,intron_variant,,ENST00000526711,;TPP1,downstream_gene_variant,,ENST00000524611,;ILK,upstream_gene_variant,,ENST00000528784,;RRP8,upstream_gene_variant,,ENST00000530762,;AC091564.7,downstream_gene_variant,,ENST00000532191,;TAF10,downstream_gene_variant,,ENST00000532344,;RRP8,upstream_gene_variant,,ENST00000533907,;TPP1,downstream_gene_variant,,ENST00000643439,;TPP1,downstream_gene_variant,,ENST00000643479,;TPP1,downstream_gene_variant,,ENST00000644683,;TPP1,downstream_gene_variant,,ENST00000644831,;TPP1,downstream_gene_variant,,ENST00000644933,;TPP1,downstream_gene_variant,,ENST00000645285,;TPP1,downstream_gene_variant,,ENST00000645331,;TPP1,downstream_gene_variant,,ENST00000646691,;TPP1,downstream_gene_variant,,ENST00000646777,;TPP1,downstream_gene_variant,,ENST00000647016,;TPP1,downstream_gene_variant,,ENST00000647209,;TPP1,downstream_gene_variant,,ENST00000647346,; C ENSG00000166333 ENST00000537806 Transcript frameshift_variant 330-331/1801 205-206/1452 69/483 T/TX acc/aCcc rs776120061 1 NA 1 ILK HGNC HGNC:6040 protein_coding YES ENSP00000439606 A0A0A0MTH3.45 UPI0004620C37 3/12 PROSITE_profiles:PS50297,PROSITE_profiles:PS50088,PANTHER:PTHR23257:SF822,PANTHER:PTHR23257,Gene3D:1.25.40.20,PIRSF:PIRSF000654,Pfam:PF13857,SMART:SM00248,Superfamily:SSF48403 NA NA NA NA NA NA NA NA NA uncertain_significance NA NA NA NA HIGH NA insertion 5 6 1 NA NA . CAC . 4282.64 1.193e-05 NA NA NA NA NA 2.638e-05 NA NA 6608161 OR10A5 144124 . GRCh38 chr11 6846353 6846353 + Missense_Mutation SNP C C A novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.671C>A p.Ala224Asp p.A224D ENST00000299454 1/1 NA NA NA NA NA NA OR10A5,missense_variant,p.Ala224Asp,ENST00000299454,NM_178168.1;AC087280.2,intron_variant,,ENST00000637205,;AC087280.1,upstream_gene_variant,,ENST00000530632,; A ENSG00000166363 ENST00000299454 Transcript missense_variant 702/1054 671/954 224/317 A/D gCt/gAt 1 NA 1 OR10A5 HGNC HGNC:15131 protein_coding YES CCDS7773.1 ENSP00000299454 Q9H207.146 A0A126GWR0.27 UPI000004C155 NM_178168.1 tolerated(0.18) possibly_damaging(0.77) 1/1 Gene3D:1.20.1070.10,Pfam:PF13853,PROSITE_profiles:PS50262,PANTHER:PTHR26453,PANTHER:PTHR26453:SF625,Superfamily:SSF81321,CDD:cd15225 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE NA SNV NA NA NA NA . GCT . 3611.6 NA NA NA NA NA NA NA NA NA 6846353 SWAP70 23075 . GRCh38 chr11 9749928 9749929 + Frame_Shift_Del DEL AG AG - novel NA HCI-EC-23 NORMAL AG AG NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1725_1726del p.Lys576GlufsTer48 p.K576Efs*48 ENST00000318950 12/12 NA NA NA NA NA NA SWAP70,frameshift_variant,p.Lys576GlufsTer48,ENST00000318950,NM_015055.4;SWAP70,frameshift_variant,p.Lys518GlufsTer48,ENST00000447399,NM_001297714.2;LINC02709,downstream_gene_variant,,ENST00000500698,;SWAP70,intron_variant,,ENST00000534562,; - ENSG00000133789 ENST00000318950 Transcript frameshift_variant 1819-1820/4884 1716-1717/1758 572-573/585 EE/EX gaAGag/gaag 1 NA 1 SWAP70 HGNC HGNC:17070 protein_coding YES CCDS31426.1 ENSP00000315630 Q9UH65.160 UPI0000073652 NM_015055.4 12/12 PANTHER:PTHR14383:SF6,PANTHER:PTHR14383 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 9 NA NA . GAAGA . 2182.6 NA NA NA NA NA NA NA NA NA 9749927 SBF2 81846 . GRCh38 chr11 9832260 9832260 + Missense_Mutation SNP C C A NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3616G>T p.Val1206Phe p.V1206F ENST00000675281 27/41 NA NA NA NA NA NA SBF2,missense_variant,p.Val1206Phe,ENST00000256190,NM_030962.3;SBF2,missense_variant,p.Val1206Phe,ENST00000675281,;SBF2,missense_variant,p.Val1168Phe,ENST00000676387,;SBF2,missense_variant,p.Val90Phe,ENST00000530741,;SBF2,missense_variant,p.Val1206Phe,ENST00000676324,;SBF2,upstream_gene_variant,,ENST00000533584,; A ENSG00000133812 ENST00000675281 Transcript missense_variant 3766/7381 3616/5625 1206/1874 V/F Gtt/Ttt COSV56296658 1 NA -1 SBF2 HGNC HGNC:2135 protein_coding YES ENSP00000502491 deleterious(0) probably_damaging(0.951) 27/41 Pfam:PF06602,PROSITE_profiles:PS51339,PANTHER:PTHR10807,PANTHER:PTHR10807:SF4,Superfamily:SSF52799,CDD:cd14589 NA NA NA NA NA NA NA NA NA 1 NA NA NA NA MODERATE 1 SNV NA NA 1 NA 1 . ACG . 1291.6 NA NA NA NA NA NA NA NA NA 9832260 MICAL2 9645 . GRCh38 chr11 12294797 12294798 + In_Frame_Ins INS - - CTCCTC rs3841216 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.5191_5196dup p.Pro1731_Pro1732dup p.P1731_P1732dup ENST00000646065 29/35 NA NA NA NA NA NA MICAL2,inframe_insertion,p.Pro1731_Pro1732dup,ENST00000646065,;MICAL2,downstream_gene_variant,,ENST00000533534,;MICAL2,downstream_gene_variant,,ENST00000644505,;MICAL2,non_coding_transcript_exon_variant,,ENST00000643523,NM_032867.3; CTCCTC ENSG00000133816 ENST00000646065 Transcript inframe_insertion 5152-5153/5874 5152-5153/5874 1718/1957 A/APP gct/gCTCCTCct rs3841216 1 NA 1 MICAL2 HGNC HGNC:24693 protein_coding YES ENSP00000494982 A0A2R8YFA9.12 UPI000D193EE2 29/35 PANTHER:PTHR23167,PANTHER:PTHR23167:SF39,SMART:SM00945,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 insertion NA 44 NA NA . AGC . 1141.64 NA NA NA NA NA NA NA NA NA 12294797 MRGPRX3 117195 . GRCh38 chr11 18137756 18137756 + Frame_Shift_Del DEL T T - rs1178892676 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.560del p.Leu187TyrfsTer25 p.L187Yfs*25 ENST00000396275 3/3 NA NA NA NA NA NA MRGPRX3,frameshift_variant,p.Leu187TyrfsTer25,ENST00000396275,NM_054031.3;MRGPRX3,frameshift_variant,p.Leu187TyrfsTer25,ENST00000621697,NM_001370464.1;AC090099.1,downstream_gene_variant,,ENST00000527671,;AC090099.2,upstream_gene_variant,,ENST00000648470,; - ENSG00000179826 ENST00000396275 Transcript frameshift_variant 915/1639 554/969 185/322 V/X gTt/gt rs1178892676 1 NA 1 MRGPRX3 HGNC HGNC:17980 protein_coding YES CCDS7830.1 ENSP00000379571 Q96LB0.137 UPI0000061FCF NM_054031.3 3/3 Gene3D:1.20.1070.10,Pfam:PF00001,PROSITE_profiles:PS50262,PANTHER:PTHR11334,PANTHER:PTHR11334:SF34,Superfamily:SSF81321,Transmembrane_helices:TMhelix,CDD:cd15106,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 6 NA NA . GGTT . 3231.6 NA NA NA NA NA NA NA NA NA 18137755 MRGPRX1 259249 . GRCh38 chr11 18934001 18934001 + Missense_Mutation SNP C C T rs752423405 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.784G>A p.Ala262Thr p.A262T ENST00000302797 1/1 NA NA NA NA NA NA MRGPRX1,missense_variant,p.Ala262Thr,ENST00000302797,NM_147199.3;MRGPRX1,downstream_gene_variant,,ENST00000526914,;AC023078.1,upstream_gene_variant,,ENST00000528646,; T ENSG00000170255 ENST00000302797 Transcript missense_variant 1002/1190 784/969 262/322 A/T Gct/Act rs752423405,COSV57105943,COSV57107202 1 NA -1 MRGPRX1 HGNC HGNC:17962 protein_coding YES CCDS7846.1 ENSP00000305766 Q96LB2.147 W8W3P5.42 UPI000003BCCF NM_147199.3 deleterious(0.04) benign(0.244) 1/1 Gene3D:1.20.1070.10,Pfam:PF00001,Prints:PR00237,PROSITE_profiles:PS50262,PANTHER:PTHR11334,PANTHER:PTHR11334:SF22,Superfamily:SSF81321,Transmembrane_helices:TMhelix,CDD:cd15106 NA NA NA NA NA NA NA NA NA 0,1,1 NA NA NA NA MODERATE NA SNV NA NA 0,1,1 NA NA . GCG . 2861.6 NA NA NA NA NA NA NA NA NA 18934001 LGR4 55366 . GRCh38 chr11 27368784 27368784 + Missense_Mutation SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1939G>A p.Ala647Thr p.A647T ENST00000379214 18/18 NA NA NA NA NA NA LGR4,missense_variant,p.Ala647Thr,ENST00000379214,NM_018490.5;LGR4,missense_variant,p.Ala623Thr,ENST00000389858,NM_001346432.1;LGR4,downstream_gene_variant,,ENST00000489910,; T ENSG00000205213 ENST00000379214 Transcript missense_variant 2427/5250 1939/2856 647/951 A/T Gca/Aca 1 NA -1 LGR4 HGNC HGNC:13299 protein_coding YES CCDS31449.1 ENSP00000368516 Q9BXB1.163 UPI00000373E7 NM_018490.5 deleterious(0.05) benign(0.282) 18/18 Gene3D:1.20.1070.10,Pfam:PF00001,Prints:PR00237,PROSITE_profiles:PS50262,PANTHER:PTHR45836,PANTHER:PTHR45836:SF10,Superfamily:SSF81321,CDD:cd15361 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . GCA . 2101.6 NA NA NA NA NA NA NA NA NA 27368784 DCDC1 341019 . GRCh38 chr11 30899597 30899597 + Frame_Shift_Del DEL T T - novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4700del p.Lys1567ArgfsTer8 p.K1567Rfs*8 ENST00000597505 32/36 NA NA NA NA NA NA DCDC1,frameshift_variant,p.Lys1567ArgfsTer8,ENST00000597505,NM_001367979.1;DCDC1,frameshift_variant,p.Lys674ArgfsTer8,ENST00000406071,NM_020869.3;DCDC1,frameshift_variant,p.Lys258ArgfsTer8,ENST00000303697,;DCDC1,frameshift_variant,p.Lys602ArgfsTer8,ENST00000444572,;DCDC1,non_coding_transcript_exon_variant,,ENST00000483396,; - ENSG00000170959 ENST00000597505 Transcript frameshift_variant 4700/5352 4700/5352 1567/1783 K/X aAg/ag 1 NA -1 DCDC1 HGNC HGNC:20625 protein_coding YES ENSP00000472625 M0R2J8.47 UPI0002A47319 NM_001367979.1 32/36 PANTHER:PTHR46302,PANTHER:PTHR46302:SF2 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 5 NA NA NA . CCTT . 925.6 NA NA NA NA NA NA NA NA NA 30899596 DCDC1 341019 . GRCh38 chr11 31064503 31064503 + Silent SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2557C>T p.Leu853= p.L853= ENST00000597505 18/36 NA NA NA NA NA NA DCDC1,synonymous_variant,p.Leu853=,ENST00000597505,NM_001367979.1;DCDC1,non_coding_transcript_exon_variant,,ENST00000437348,;DCDC1,3_prime_UTR_variant,,ENST00000342355,; A ENSG00000170959 ENST00000597505 Transcript synonymous_variant 2557/5352 2557/5352 853/1783 L Ctg/Ttg 1 NA -1 DCDC1 HGNC HGNC:20625 protein_coding YES ENSP00000472625 M0R2J8.47 UPI0002A47319 NM_001367979.1 18/36 PANTHER:PTHR46302,PANTHER:PTHR46302:SF2 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . AGT . 2355.6 NA NA NA NA NA NA NA NA NA 31064503 CAPRIN1 4076 . GRCh38 chr11 34096649 34096649 + Silent SNP C C A NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1876C>A p.Arg626= p.R626= ENST00000341394 16/19 NA NA NA NA NA NA CAPRIN1,synonymous_variant,p.Arg626=,ENST00000341394,NM_005898.5;CAPRIN1,synonymous_variant,p.Arg626=,ENST00000389645,NM_203364.3;CAPRIN1,synonymous_variant,p.Arg626=,ENST00000530820,;CAPRIN1,synonymous_variant,p.Arg626=,ENST00000532820,;CAPRIN1,synonymous_variant,p.Arg545=,ENST00000529307,;CAPRIN1,non_coding_transcript_exon_variant,,ENST00000533657,;CAPRIN1,non_coding_transcript_exon_variant,,ENST00000528856,;CAPRIN1,non_coding_transcript_exon_variant,,ENST00000533562,;CAPRIN1,non_coding_transcript_exon_variant,,ENST00000531668,;CAPRIN1,downstream_gene_variant,,ENST00000528948,; A ENSG00000135387 ENST00000341394 Transcript synonymous_variant 2017/5514 1876/2130 626/709 R Cgg/Agg COSV100403563,COSV58222179 1 NA 1 CAPRIN1 HGNC HGNC:6743 protein_coding YES CCDS31453.1 ENSP00000340329 Q14444.170 UPI0000251DB5 NM_005898.5 16/19 PANTHER:PTHR22922,PANTHER:PTHR22922:SF3,Pfam:PF12287 NA NA NA NA NA NA NA NA NA 1,1 NA NA NA NA LOW 1 SNV 1 NA 1,1 NA 1 . CCG . 204.6 NA NA NA NA NA NA NA NA NA 34096649 CAPRIN1 4076 . GRCh38 chr11 34096669 34096669 + Silent SNP C C T NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1896C>T p.Phe632= p.F632= ENST00000341394 16/19 NA NA NA NA NA NA CAPRIN1,synonymous_variant,p.Phe632=,ENST00000341394,NM_005898.5;CAPRIN1,synonymous_variant,p.Phe632=,ENST00000389645,NM_203364.3;CAPRIN1,synonymous_variant,p.Phe632=,ENST00000530820,;CAPRIN1,synonymous_variant,p.Phe632=,ENST00000532820,;CAPRIN1,synonymous_variant,p.Phe551=,ENST00000529307,;CAPRIN1,non_coding_transcript_exon_variant,,ENST00000533657,;CAPRIN1,non_coding_transcript_exon_variant,,ENST00000528856,;CAPRIN1,non_coding_transcript_exon_variant,,ENST00000533562,;CAPRIN1,non_coding_transcript_exon_variant,,ENST00000531668,;CAPRIN1,downstream_gene_variant,,ENST00000528948,; T ENSG00000135387 ENST00000341394 Transcript synonymous_variant 2037/5514 1896/2130 632/709 F ttC/ttT COSV58221569 1 NA 1 CAPRIN1 HGNC HGNC:6743 protein_coding YES CCDS31453.1 ENSP00000340329 Q14444.170 UPI0000251DB5 NM_005898.5 16/19 PANTHER:PTHR22922,PANTHER:PTHR22922:SF3,Pfam:PF12287 NA NA NA NA NA NA NA NA NA 1 NA NA NA NA LOW 1 SNV 1 NA 1 NA 1 . TCA . 238.6 NA NA NA NA NA NA NA NA NA 34096669 CAPRIN1 4076 . GRCh38 chr11 34097227 34097227 + Silent SNP T T G NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1932T>G p.Ser644= p.S644= ENST00000341394 17/19 NA NA NA NA NA NA CAPRIN1,synonymous_variant,p.Ser644=,ENST00000341394,NM_005898.5;CAPRIN1,synonymous_variant,p.Ser644=,ENST00000389645,NM_203364.3;CAPRIN1,synonymous_variant,p.Ser644=,ENST00000530820,;CAPRIN1,synonymous_variant,p.Ser644=,ENST00000532820,;CAPRIN1,synonymous_variant,p.Ser563=,ENST00000529307,;CAPRIN1,non_coding_transcript_exon_variant,,ENST00000533657,;CAPRIN1,non_coding_transcript_exon_variant,,ENST00000528856,;CAPRIN1,non_coding_transcript_exon_variant,,ENST00000533562,;CAPRIN1,non_coding_transcript_exon_variant,,ENST00000531668,;CAPRIN1,downstream_gene_variant,,ENST00000528948,; G ENSG00000135387 ENST00000341394 Transcript synonymous_variant 2073/5514 1932/2130 644/709 S tcT/tcG COSV58220001 1 NA 1 CAPRIN1 HGNC HGNC:6743 protein_coding YES CCDS31453.1 ENSP00000340329 Q14444.170 UPI0000251DB5 NM_005898.5 17/19 PANTHER:PTHR22922,PANTHER:PTHR22922:SF3,Pfam:PF12287 NA NA NA NA NA NA NA NA NA 1 NA NA NA NA LOW 1 SNV 1 NA 1 NA 1 . CTA . 205.6 NA NA NA NA NA NA NA NA NA 34097227 CAPRIN1 4076 . GRCh38 chr11 34097249 34097249 + Missense_Mutation SNP A A T novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1954A>T p.Thr652Ser p.T652S ENST00000341394 17/19 NA NA NA NA NA NA CAPRIN1,missense_variant,p.Thr652Ser,ENST00000341394,NM_005898.5;CAPRIN1,missense_variant,p.Thr652Ser,ENST00000389645,NM_203364.3;CAPRIN1,missense_variant,p.Thr652Ser,ENST00000530820,;CAPRIN1,missense_variant,p.Thr652Ser,ENST00000532820,;CAPRIN1,missense_variant,p.Thr571Ser,ENST00000529307,;CAPRIN1,non_coding_transcript_exon_variant,,ENST00000533657,;CAPRIN1,non_coding_transcript_exon_variant,,ENST00000528856,;CAPRIN1,non_coding_transcript_exon_variant,,ENST00000533562,;CAPRIN1,non_coding_transcript_exon_variant,,ENST00000531668,;CAPRIN1,downstream_gene_variant,,ENST00000528948,; T ENSG00000135387 ENST00000341394 Transcript missense_variant 2095/5514 1954/2130 652/709 T/S Aca/Tca 1 NA 1 CAPRIN1 HGNC HGNC:6743 protein_coding YES CCDS31453.1 ENSP00000340329 Q14444.170 UPI0000251DB5 NM_005898.5 tolerated(0.65) benign(0.179) 17/19 MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite,PANTHER:PTHR22922,PANTHER:PTHR22922:SF3,Pfam:PF12287 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . TAC . 169.6 NA NA NA NA NA NA NA NA NA 34097249 CAPRIN1 4076 . GRCh38 chr11 34097265 34097265 + Missense_Mutation SNP G G C novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1970G>C p.Ser657Thr p.S657T ENST00000341394 17/19 NA NA NA NA NA NA CAPRIN1,missense_variant,p.Ser657Thr,ENST00000341394,NM_005898.5;CAPRIN1,missense_variant,p.Ser657Thr,ENST00000389645,NM_203364.3;CAPRIN1,missense_variant,p.Ser657Thr,ENST00000530820,;CAPRIN1,missense_variant,p.Ser657Thr,ENST00000532820,;CAPRIN1,missense_variant,p.Ser576Thr,ENST00000529307,;CAPRIN1,non_coding_transcript_exon_variant,,ENST00000533657,;CAPRIN1,non_coding_transcript_exon_variant,,ENST00000528856,;CAPRIN1,non_coding_transcript_exon_variant,,ENST00000533562,;CAPRIN1,non_coding_transcript_exon_variant,,ENST00000531668,;CAPRIN1,downstream_gene_variant,,ENST00000528948,; C ENSG00000135387 ENST00000341394 Transcript missense_variant 2111/5514 1970/2130 657/709 S/T aGt/aCt 1 NA 1 CAPRIN1 HGNC HGNC:6743 protein_coding YES CCDS31453.1 ENSP00000340329 Q14444.170 UPI0000251DB5 NM_005898.5 tolerated(0.16) benign(0.183) 17/19 MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite,PANTHER:PTHR22922,PANTHER:PTHR22922:SF3,Pfam:PF12287 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . AGT . 172.6 NA NA NA NA NA NA NA NA NA 34097265 CAPRIN1 4076 . GRCh38 chr11 34097278 34097278 + Silent SNP T T C rs752747240 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1983T>C p.Asp661= p.D661= ENST00000341394 17/19 NA NA NA NA NA NA CAPRIN1,synonymous_variant,p.Asp661=,ENST00000341394,NM_005898.5;CAPRIN1,synonymous_variant,p.Asp661=,ENST00000389645,NM_203364.3;CAPRIN1,synonymous_variant,p.Asp661=,ENST00000530820,;CAPRIN1,synonymous_variant,p.Asp661=,ENST00000532820,;CAPRIN1,synonymous_variant,p.Asp580=,ENST00000529307,;CAPRIN1,non_coding_transcript_exon_variant,,ENST00000533657,;CAPRIN1,non_coding_transcript_exon_variant,,ENST00000528856,;CAPRIN1,non_coding_transcript_exon_variant,,ENST00000531668,;CAPRIN1,downstream_gene_variant,,ENST00000528948,;CAPRIN1,downstream_gene_variant,,ENST00000533562,; C ENSG00000135387 ENST00000341394 Transcript synonymous_variant 2124/5514 1983/2130 661/709 D gaT/gaC rs752747240 1 NA 1 CAPRIN1 HGNC HGNC:6743 protein_coding YES CCDS31453.1 ENSP00000340329 Q14444.170 UPI0000251DB5 NM_005898.5 17/19 MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite,PANTHER:PTHR22922,PANTHER:PTHR22922:SF3,Pfam:PF12287 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . ATT . 98.6 3.98e-06 NA 2.893e-05 NA NA NA NA NA NA 34097278 SLC35C1 55343 . GRCh38 chr11 45810980 45810980 + Missense_Mutation SNP T T C novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.740T>C p.Leu247Pro p.L247P ENST00000314134 2/2 NA NA NA NA NA NA SLC35C1,missense_variant,p.Leu247Pro,ENST00000314134,NM_018389.5;SLC35C1,missense_variant,p.Leu234Pro,ENST00000442528,NM_001145266.1,NM_001145265.2;SLC35C1,downstream_gene_variant,,ENST00000526817,;SLC35C1,downstream_gene_variant,,ENST00000530471,;AC044839.3,upstream_gene_variant,,ENST00000534128,; C ENSG00000181830 ENST00000314134 Transcript missense_variant 1393/3429 740/1095 247/364 L/P cTg/cCg 1 NA 1 SLC35C1 HGNC HGNC:20197 protein_coding YES CCDS7914.1 ENSP00000313318 Q96A29.165 B3KQH0.84 UPI000012A5BB NM_018389.5 deleterious(0) probably_damaging(0.918) 2/2 Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PANTHER:PTHR11132:SF255,PANTHER:PTHR11132,Pfam:PF03151 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . CTG . 7937.6 NA NA NA NA NA NA NA NA NA 45810980 CRY2 1408 . GRCh38 chr11 45869782 45869782 + Frame_Shift_Del DEL G G - novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1225del p.Asp409ThrfsTer24 p.D409Tfs*24 ENST00000616623 7/12 NA NA NA NA NA NA CRY2,frameshift_variant,p.Asp409ThrfsTer24,ENST00000616623,;CRY2,frameshift_variant,p.Asp409ThrfsTer24,ENST00000443527,;CRY2,frameshift_variant,p.Asp388ThrfsTer24,ENST00000616080,NM_021117.5;CRY2,frameshift_variant,p.Asp327ThrfsTer24,ENST00000417225,NM_001127457.2;CRY2,upstream_gene_variant,,ENST00000488962,;CRY2,downstream_gene_variant,,ENST00000495237,;CRY2,downstream_gene_variant,,ENST00000496667,;CRY2,downstream_gene_variant,,ENST00000525110,; - ENSG00000121671 ENST00000616623 Transcript frameshift_variant 1244/4204 1222/1845 408/614 G/X Ggg/gg 1 NA 1 CRY2 HGNC HGNC:2385 protein_coding YES CCDS7915.2 ENSP00000478187 A0A0D2X7Z3.43 UPI000174F724 7/12 PANTHER:PTHR11455,PANTHER:PTHR11455:SF15,Pfam:PF03441,Gene3D:1.10.579.10,Superfamily:SSF48173 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 3 NA NA . GCGG . 6957.6 NA NA NA NA NA NA NA NA NA 45869781 F2 2147 . GRCh38 chr11 46719850 46719850 + Silent SNP C C T rs772878615 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.228C>T p.Ser76= p.S76= ENST00000311907 2/14 NA NA NA NA NA NA F2,synonymous_variant,p.Ser76=,ENST00000311907,NM_001311257.2,NM_000506.5;F2,synonymous_variant,p.Ser76=,ENST00000530231,;F2,synonymous_variant,p.Ser66=,ENST00000442468,;F2,non_coding_transcript_exon_variant,,ENST00000469189,;F2,upstream_gene_variant,,ENST00000490274,; T ENSG00000180210 ENST00000311907 Transcript synonymous_variant 251/1990 228/1869 76/622 S tcC/tcT rs772878615 1 NA 1 F2 HGNC HGNC:3535 protein_coding YES CCDS31476.1 ENSP00000308541 P00734.260 UPI0000136ECD NM_001311257.2,NM_000506.5 2/14 Gene3D:2.40.20.10,PDB-ENSP_mappings:4nzq.A,PDB-ENSP_mappings:4o03.A,PDB-ENSP_mappings:5edk.A,PDB-ENSP_mappings:5edm.A,PDB-ENSP_mappings:6bjr.A,PDB-ENSP_mappings:6c2w.A,PDB-ENSP_mappings:6c2w.B,Pfam:PF00594,PIRSF:PIRSF001149,Prints:PR00001,PROSITE_patterns:PS00011,PROSITE_profiles:PS50998,PANTHER:PTHR24254,PANTHER:PTHR24254:SF10,SMART:SM00069,Superfamily:SSF57630 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . CCT . 3019.6 5.576e-06 NA NA NA NA NA 1.328e-05 NA NA 46719850 MADD 8567 . GRCh38 chr11 47275929 47275929 + Silent SNP G G A rs1187237749 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.690G>A p.Ser230= p.S230= ENST00000311027 4/36 NA NA NA NA NA NA MADD,synonymous_variant,p.Ser230=,ENST00000342922,NM_130470.3,NM_001376620.1,NM_001376584.1,NM_001376612.1,NM_001376611.1,NM_001376663.1;MADD,synonymous_variant,p.Ser230=,ENST00000311027,NM_001376595.1,NM_001376576.1,NM_003682.4,NM_001376574.1,NM_001376571.1,NM_001376572.1,NM_001376573.1,NM_001376575.1,NM_001376577.1,NM_001376583.1,NM_001376578.1,NM_001376581.1,NM_001376582.1,NM_001376585.1,NM_001376597.1,NM_001376598.1,NM_001376626.1,NM_001376627.1,NM_001376644.1,NM_001376647.1;MADD,synonymous_variant,p.Ser230=,ENST00000395336,NM_001376641.1,NM_001376625.1,NM_001376630.1,NM_001376636.1,NM_001376638.1,NM_001376648.1,NM_001376600.1,NM_001376634.1,NM_001376596.1,NM_001376642.1,NM_130475.3,NM_001376599.1,NM_001376605.1,NM_001376606.1,NM_001376633.1,NM_001376609.1,NM_001376608.1,NM_001376610.1,NM_001376624.1,NM_001376628.1,NM_001376629.1,NM_001376637.1,NM_001376639.1,NM_001376643.1,NM_001376655.1,NM_001376640.1,NM_001376645.1,NM_001376662.1,NM_001376658.1,NM_001376632.1,NM_001376649.1,NM_001376657.1,NM_001376659.1,NM_001376660.1,NM_001376601.1;MADD,synonymous_variant,p.Ser230=,ENST00000349238,NM_130473.3;MADD,synonymous_variant,p.Ser230=,ENST00000402192,NM_001376614.1,NM_001376594.1,NM_130476.3,NM_001376579.1,NM_001376580.1,NM_001376593.1,NM_001376613.1;MADD,synonymous_variant,p.Ser230=,ENST00000407859,NM_130471.3,NM_001376586.1,NM_001376617.1,NM_001376607.1,NM_001376602.1,NM_001376635.1,NM_001376654.1,NM_001376646.1;MADD,synonymous_variant,p.Ser230=,ENST00000402799,NM_001376616.1,NM_130472.3,NM_001376603.1,NM_001376615.1,NM_001135943.2;MADD,synonymous_variant,p.Ser230=,ENST00000406482,NM_001376651.1,NM_001376631.1,NM_001376622.1,NM_130474.3,NM_001376623.1,NM_001376652.1,NM_001376653.1,NM_001376656.1,NM_001376661.1;MADD,synonymous_variant,p.Ser230=,ENST00000395344,NM_001376619.1,NM_001376621.1,NM_001135944.2,NM_001376604.1,NM_001376618.1,NM_001376650.1;MADD,synonymous_variant,p.Ser8=,ENST00000428807,;MADD,downstream_gene_variant,,ENST00000422579,;MADD,downstream_gene_variant,,ENST00000444117,;MADD,downstream_gene_variant,,ENST00000453571,;MADD-AS1,upstream_gene_variant,,ENST00000543925,;MADD-AS1,upstream_gene_variant,,ENST00000545474,;MADD,upstream_gene_variant,,ENST00000489415,;MADD,downstream_gene_variant,,ENST00000526603,;MADD,downstream_gene_variant,,ENST00000534808,; A ENSG00000110514 ENST00000311027 Transcript synonymous_variant 855/5990 690/4944 230/1647 S tcG/tcA rs1187237749,COSV60620213 1 NA 1 MADD HGNC HGNC:6766 protein_coding YES CCDS7930.1 ENSP00000310933 Q8WXG6.139 UPI000013E874 NM_001376595.1,NM_001376576.1,NM_003682.4,NM_001376574.1,NM_001376571.1,NM_001376572.1,NM_001376573.1,NM_001376575.1,NM_001376577.1,NM_001376583.1,NM_001376578.1,NM_001376581.1,NM_001376582.1,NM_001376585.1,NM_001376597.1,NM_001376598.1,NM_001376626.1,NM_001376627.1,NM_001376644.1,NM_001376647.1 4/36 Pfam:PF02141,PROSITE_profiles:PS50211,PANTHER:PTHR13008,SMART:SM00799 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA LOW 1 SNV 1 NA 0,1 NA NA . CGC . 4442.6 3.191e-05 NA 0.0001736 NA NA NA 8.845e-06 NA 3.268e-05 47275929 MADD 8567 . GRCh38 chr11 47276160 47276160 + Silent SNP C C T rs376847287 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.921C>T p.Asp307= p.D307= ENST00000311027 4/36 NA NA NA NA NA NA MADD,synonymous_variant,p.Asp307=,ENST00000342922,NM_130470.3,NM_001376620.1,NM_001376584.1,NM_001376612.1,NM_001376611.1,NM_001376663.1;MADD,synonymous_variant,p.Asp307=,ENST00000311027,NM_001376595.1,NM_001376576.1,NM_003682.4,NM_001376574.1,NM_001376571.1,NM_001376572.1,NM_001376573.1,NM_001376575.1,NM_001376577.1,NM_001376583.1,NM_001376578.1,NM_001376581.1,NM_001376582.1,NM_001376585.1,NM_001376597.1,NM_001376598.1,NM_001376626.1,NM_001376627.1,NM_001376644.1,NM_001376647.1;MADD,synonymous_variant,p.Asp307=,ENST00000395336,NM_001376641.1,NM_001376625.1,NM_001376630.1,NM_001376636.1,NM_001376638.1,NM_001376648.1,NM_001376600.1,NM_001376634.1,NM_001376596.1,NM_001376642.1,NM_130475.3,NM_001376599.1,NM_001376605.1,NM_001376606.1,NM_001376633.1,NM_001376609.1,NM_001376608.1,NM_001376610.1,NM_001376624.1,NM_001376628.1,NM_001376629.1,NM_001376637.1,NM_001376639.1,NM_001376643.1,NM_001376655.1,NM_001376640.1,NM_001376645.1,NM_001376662.1,NM_001376658.1,NM_001376632.1,NM_001376649.1,NM_001376657.1,NM_001376659.1,NM_001376660.1,NM_001376601.1;MADD,synonymous_variant,p.Asp307=,ENST00000349238,NM_130473.3;MADD,synonymous_variant,p.Asp307=,ENST00000402192,NM_001376614.1,NM_001376594.1,NM_130476.3,NM_001376579.1,NM_001376580.1,NM_001376593.1,NM_001376613.1;MADD,synonymous_variant,p.Asp307=,ENST00000407859,NM_130471.3,NM_001376586.1,NM_001376617.1,NM_001376607.1,NM_001376602.1,NM_001376635.1,NM_001376654.1,NM_001376646.1;MADD,synonymous_variant,p.Asp307=,ENST00000402799,NM_001376616.1,NM_130472.3,NM_001376603.1,NM_001376615.1,NM_001135943.2;MADD,synonymous_variant,p.Asp307=,ENST00000406482,NM_001376651.1,NM_001376631.1,NM_001376622.1,NM_130474.3,NM_001376623.1,NM_001376652.1,NM_001376653.1,NM_001376656.1,NM_001376661.1;MADD,synonymous_variant,p.Asp307=,ENST00000395344,NM_001376619.1,NM_001376621.1,NM_001135944.2,NM_001376604.1,NM_001376618.1,NM_001376650.1;MADD,synonymous_variant,p.Asp85=,ENST00000428807,;MADD,downstream_gene_variant,,ENST00000422579,;MADD,downstream_gene_variant,,ENST00000444117,;MADD,downstream_gene_variant,,ENST00000453571,;MADD-AS1,upstream_gene_variant,,ENST00000543925,;MADD-AS1,upstream_gene_variant,,ENST00000545474,;MADD,non_coding_transcript_exon_variant,,ENST00000489415,;MADD,downstream_gene_variant,,ENST00000526603,;MADD,downstream_gene_variant,,ENST00000534808,; T ENSG00000110514 ENST00000311027 Transcript synonymous_variant 1086/5990 921/4944 307/1647 D gaC/gaT rs376847287 1 NA 1 MADD HGNC HGNC:6766 protein_coding YES CCDS7930.1 ENSP00000310933 Q8WXG6.139 UPI000013E874 NM_001376595.1,NM_001376576.1,NM_003682.4,NM_001376574.1,NM_001376571.1,NM_001376572.1,NM_001376573.1,NM_001376575.1,NM_001376577.1,NM_001376583.1,NM_001376578.1,NM_001376581.1,NM_001376582.1,NM_001376585.1,NM_001376597.1,NM_001376598.1,NM_001376626.1,NM_001376627.1,NM_001376644.1,NM_001376647.1 4/36 Gene3D:3.40.50.11500,Pfam:PF02141,PROSITE_profiles:PS50211,PANTHER:PTHR13008,SMART:SM00799 NA NA NA NA NA NA NA NA 0.0001163 NA NA NA NA LOW 1 SNV 1 NA NA NA . ACG . 1141.6 1.194e-05 6.152e-05 2.893e-05 NA NA NA 8.801e-06 NA NA 47276160 MTCH2 23788 . GRCh38 chr11 47622718 47622718 + Missense_Mutation SNP A A C rs796949086 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.808T>G p.Cys270Gly p.C270G ENST00000302503 12/13 NA NA NA NA NA NA MTCH2,missense_variant,p.Cys270Gly,ENST00000302503,NM_001317232.1,NM_001317233.1,NM_001317231.1,NM_014342.4;MTCH2,missense_variant,p.Cys261Gly,ENST00000530428,;MTCH2,non_coding_transcript_exon_variant,,ENST00000534074,;MTCH2,non_coding_transcript_exon_variant,,ENST00000525649,;MTCH2,intron_variant,,ENST00000539759,; C ENSG00000109919 ENST00000302503 Transcript missense_variant 902/2522 808/912 270/303 C/G Tgc/Ggc rs796949086 1 NA -1 MTCH2 HGNC HGNC:17587 protein_coding YES CCDS7943.1 ENSP00000303222 Q9Y6C9.157 UPI000006E280 NM_001317232.1,NM_001317233.1,NM_001317231.1,NM_014342.4 tolerated(0.23) benign(0.041) 12/13 PANTHER:PTHR10780,PANTHER:PTHR10780:SF20,Gene3D:1.50.40.10,Superfamily:SSF103506 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CAC . 501.6 NA NA NA NA NA NA NA NA NA 47622718 MTCH2 23788 . GRCh38 chr11 47622719 47622719 + Nonsense_Mutation SNP C C T rs796096347 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.807G>A p.Trp269Ter p.W269* ENST00000302503 12/13 NA NA NA NA NA NA MTCH2,stop_gained,p.Trp269Ter,ENST00000302503,NM_001317232.1,NM_001317233.1,NM_001317231.1,NM_014342.4;MTCH2,stop_gained,p.Trp260Ter,ENST00000530428,;MTCH2,non_coding_transcript_exon_variant,,ENST00000534074,;MTCH2,non_coding_transcript_exon_variant,,ENST00000525649,;MTCH2,intron_variant,,ENST00000539759,; T ENSG00000109919 ENST00000302503 Transcript stop_gained 901/2522 807/912 269/303 W/* tgG/tgA rs796096347 1 NA -1 MTCH2 HGNC HGNC:17587 protein_coding YES CCDS7943.1 ENSP00000303222 Q9Y6C9.157 UPI000006E280 NM_001317232.1,NM_001317233.1,NM_001317231.1,NM_014342.4 12/13 PANTHER:PTHR10780,PANTHER:PTHR10780:SF20,Gene3D:1.50.40.10,Superfamily:SSF103506 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 SNV 1 NA NA NA . ACC . 489.6 NA NA NA NA NA NA NA NA NA 47622719 MTCH2 23788 . GRCh38 chr11 47622722 47622722 + Silent SNP A A G rs796379070 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.804T>C p.Cys268= p.C268= ENST00000302503 12/13 NA NA NA NA NA NA MTCH2,synonymous_variant,p.Cys268=,ENST00000302503,NM_001317232.1,NM_001317233.1,NM_001317231.1,NM_014342.4;MTCH2,synonymous_variant,p.Cys259=,ENST00000530428,;MTCH2,non_coding_transcript_exon_variant,,ENST00000534074,;MTCH2,non_coding_transcript_exon_variant,,ENST00000525649,;MTCH2,intron_variant,,ENST00000539759,; G ENSG00000109919 ENST00000302503 Transcript synonymous_variant 898/2522 804/912 268/303 C tgT/tgC rs796379070,COSV56767058 1 NA -1 MTCH2 HGNC HGNC:17587 protein_coding YES CCDS7943.1 ENSP00000303222 Q9Y6C9.157 UPI000006E280 NM_001317232.1,NM_001317233.1,NM_001317231.1,NM_014342.4 12/13 PANTHER:PTHR10780,PANTHER:PTHR10780:SF20,Gene3D:1.50.40.10,Superfamily:SSF103506 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA LOW 1 SNV 1 NA 0,1 NA NA . AAC . 477.6 NA NA NA NA NA NA NA NA NA 47622722 MTCH2 23788 . GRCh38 chr11 47622725 47622725 + Silent SNP G G A rs796963858 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.801C>T p.Asp267= p.D267= ENST00000302503 12/13 NA NA NA NA NA NA MTCH2,synonymous_variant,p.Asp267=,ENST00000302503,NM_001317232.1,NM_001317233.1,NM_001317231.1,NM_014342.4;MTCH2,synonymous_variant,p.Asp258=,ENST00000530428,;MTCH2,non_coding_transcript_exon_variant,,ENST00000534074,;MTCH2,non_coding_transcript_exon_variant,,ENST00000525649,;MTCH2,intron_variant,,ENST00000539759,; A ENSG00000109919 ENST00000302503 Transcript synonymous_variant 895/2522 801/912 267/303 D gaC/gaT rs796963858 1 NA -1 MTCH2 HGNC HGNC:17587 protein_coding YES CCDS7943.1 ENSP00000303222 Q9Y6C9.157 UPI000006E280 NM_001317232.1,NM_001317233.1,NM_001317231.1,NM_014342.4 12/13 PANTHER:PTHR10780,PANTHER:PTHR10780:SF20,Gene3D:1.50.40.10,Superfamily:SSF103506 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . AGT . 477.6 NA NA NA NA NA NA NA NA NA 47622725 MTCH2 23788 . GRCh38 chr11 47622737 47622737 + Silent SNP C C A rs72909882 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.789G>T p.Thr263= p.T263= ENST00000302503 12/13 NA NA NA NA NA NA MTCH2,synonymous_variant,p.Thr263=,ENST00000302503,NM_001317232.1,NM_001317233.1,NM_001317231.1,NM_014342.4;MTCH2,synonymous_variant,p.Thr254=,ENST00000530428,;MTCH2,non_coding_transcript_exon_variant,,ENST00000534074,;MTCH2,non_coding_transcript_exon_variant,,ENST00000525649,;MTCH2,intron_variant,,ENST00000539759,; A ENSG00000109919 ENST00000302503 Transcript synonymous_variant 883/2522 789/912 263/303 T acG/acT rs72909882 1 NA -1 MTCH2 HGNC HGNC:17587 protein_coding YES CCDS7943.1 ENSP00000303222 Q9Y6C9.157 UPI000006E280 NM_001317232.1,NM_001317233.1,NM_001317231.1,NM_014342.4 12/13 PANTHER:PTHR10780,PANTHER:PTHR10780:SF20,Gene3D:1.50.40.10,Superfamily:SSF103506 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . ACG . 66.6 1.226e-05 NA 9.15e-05 NA NA NA NA NA NA 47622737 OR4C3 256144 . GRCh38 chr11 48325820 48325820 + Frame_Shift_Del DEL A A - rs758196846 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.803del p.Asn268IlefsTer9 p.N268Ifs*9 ENST00000319856 1/1 NA NA NA NA NA NA OR4C3,frameshift_variant,p.Asn268IlefsTer9,ENST00000319856,NM_001004702.2;OR4C3,frameshift_variant,p.Asn158IlefsTer9,ENST00000611380,; - ENSG00000176547 ENST00000319856 Transcript frameshift_variant 901/1036 799/909 267/302 K/X Aaa/aa rs758196846 1 NA 1 OR4C3 HGNC HGNC:14697 protein_coding YES ENSP00000321419 Q8NH37.142 A0A126GW65.27 UPI0000041B25 NM_001004702.2 1/1 PROSITE_profiles:PS50262,CDD:cd15939,PANTHER:PTHR26451:SF162,PANTHER:PTHR26451,Gene3D:1.20.1070.10,Pfam:PF13853,Superfamily:SSF81321,Prints:PR00237 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion NA 4 NA NA . ACAA . 3033.6 8.069e-06 NA NA NA NA NA 1.779e-05 NA NA 48325819 OR4C13 283092 . GRCh38 chr11 49953178 49953178 + Silent SNP C C T rs782410077 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.756C>T p.Cys252= p.C252= ENST00000555099 1/1 NA NA NA NA NA NA OR4C13,synonymous_variant,p.Cys252=,ENST00000555099,NM_001001955.2; T ENSG00000258817 ENST00000555099 Transcript synonymous_variant 788/1029 756/930 252/309 C tgC/tgT rs782410077 1 NA 1 OR4C13 HGNC HGNC:15169 protein_coding YES CCDS31495.1 ENSP00000452277 Q8NGP0.136 UPI000013F7D1 NM_001001955.2 1/1 Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,CDD:cd15939,PANTHER:PTHR26451:SF60,PANTHER:PTHR26451,Pfam:PF13853,Gene3D:1.20.1070.10,Superfamily:SSF81321 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV NA NA NA NA . GCA . 1805.6 7.969e-06 NA NA NA 0.0001087 NA NA NA NA 49953178 OR4C11 219429 . GRCh38 chr11 55604206 55604206 + Silent SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.168C>T p.Pro56= p.P56= ENST00000641580 4/4 NA NA NA NA NA NA OR4C11,synonymous_variant,p.Pro56=,ENST00000641580,NM_001004700.2; A ENSG00000172188 ENST00000641580 Transcript synonymous_variant 891/2737 168/933 56/310 P ccC/ccT 1 NA -1 OR4C11 HGNC HGNC:15167 protein_coding YES CCDS31503.1 ENSP00000492971 Q6IEV9.141 A0A126GVN6.32 UPI000013E7AD NM_001004700.2 4/4 PROSITE_profiles:PS50262,CDD:cd15939,PANTHER:PTHR26451,PANTHER:PTHR26451:SF447,Pfam:PF13853,Gene3D:1.20.1070.10,Superfamily:SSF81321 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV NA NA NA NA . TGG . 1041.6 NA NA NA NA NA NA NA NA NA 55604206 TRIM51 84767 . GRCh38 chr11 55886134 55886134 + Frame_Shift_Del DEL A A - rs763121810 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.430del p.Met144CysfsTer15 p.M144Cfs*15 ENST00000449290 3/7 NA NA NA NA NA NA TRIM51,frameshift_variant,p.Met144CysfsTer15,ENST00000449290,NM_032681.4;TRIM51,5_prime_UTR_variant,,ENST00000244891,;AC036111.2,downstream_gene_variant,,ENST00000533247,; - ENSG00000124900 ENST00000449290 Transcript frameshift_variant 515/1629 423/1359 141/452 L/X ctA/ct rs763121810 1 NA 1 TRIM51 HGNC HGNC:19023 protein_coding YES ENSP00000395086 Q9BSJ1.137 UPI0000DFFA1E NM_032681.4 3/7 Low_complexity_(Seg):seg,Superfamily:SSF57845,PANTHER:PTHR24103,PANTHER:PTHR24103:SF574 NA NA NA NA NA NA NA 0.005394 0.002787 NA NA NA NA HIGH 1 deletion 5 7 NA NA . CTAA . 627.6 3.633e-05 NA NA NA NA NA 3.564e-05 NA 0.0001662 55886133 OR5T1 390155 . GRCh38 chr11 56275934 56275935 + Frame_Shift_Ins INS - - A rs780397839 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.302dup p.Asn101LysfsTer2 p.N101Kfs*2 ENST00000641665 3/3 NA NA NA NA NA NA OR5T1,frameshift_variant,p.Asn101LysfsTer2,ENST00000641665,;OR5T1,frameshift_variant,p.Asn101LysfsTer2,ENST00000641368,NM_001004745.1; A ENSG00000181698 ENST00000641665 Transcript frameshift_variant 586-587/1471 296-297/981 99/326 A/AX gca/gcAa rs780397839 1 NA 1 OR5T1 HGNC HGNC:14821 protein_coding YES CCDS31525.1 ENSP00000493364 Q8NG75.140 A0A126GVL6.31 UPI000004B22E 3/3 PROSITE_profiles:PS50262,CDD:cd15409,PANTHER:PTHR24248:SF33,PANTHER:PTHR24248,Gene3D:1.20.1070.10,Pfam:PF13853,Superfamily:SSF81321 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 insertion NA 6 NA NA . GCA . 2130.64 1.194e-05 NA NA NA NA 9.244e-05 NA NA 3.267e-05 56275934 TCN1 6947 . GRCh38 chr11 59862621 59862621 + Missense_Mutation SNP T T C novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.361A>G p.Lys121Glu p.K121E ENST00000257264 3/9 NA NA NA NA NA NA TCN1,missense_variant,p.Lys121Glu,ENST00000257264,NM_001062.4;TCN1,non_coding_transcript_exon_variant,,ENST00000532419,;TCN1,non_coding_transcript_exon_variant,,ENST00000534531,;TCN1,non_coding_transcript_exon_variant,,ENST00000533734,; C ENSG00000134827 ENST00000257264 Transcript missense_variant 378/1486 361/1302 121/433 K/E Aag/Gag 1 NA -1 TCN1 HGNC HGNC:11652 protein_coding YES CCDS7978.1 ENSP00000257264 P20061.176 UPI000013CF55 NM_001062.4 tolerated(1) benign(0.098) 3/9 PDB-ENSP_mappings:4kki.A,PDB-ENSP_mappings:4kkj.A,Coiled-coils_(Ncoils):Coil,PANTHER:PTHR10559,PANTHER:PTHR10559:SF13,Gene3D:1.50.10.20,Pfam:PF01122 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . TTG . 1761.6 NA NA NA NA NA NA NA NA NA 59862621 BEST1 7439 . GRCh38 chr11 61962464 61962464 + Missense_Mutation SNP G G T novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1130G>T p.Arg377Met p.R377M ENST00000449131 9/9 NA NA NA NA NA NA BEST1,missense_variant,p.Arg377Met,ENST00000449131,NM_001139443.2,NM_001363593.2,NM_001363591.2;BEST1,missense_variant,p.Arg437Met,ENST00000378043,NM_004183.4,NM_001300787.2,NM_001300786.2;BEST1,3_prime_UTR_variant,,ENST00000534553,;FTH1,intron_variant,,ENST00000529191,;FTH1,intron_variant,,ENST00000529631,;FTH1,intron_variant,,ENST00000530019,;FTH1,downstream_gene_variant,,ENST00000273550,NM_002032.3;FTH1,downstream_gene_variant,,ENST00000526640,;BEST1,downstream_gene_variant,,ENST00000526988,;FTH1,downstream_gene_variant,,ENST00000529548,;FTH1,downstream_gene_variant,,ENST00000532601,;FTH1,downstream_gene_variant,,ENST00000620041,;BEST1,3_prime_UTR_variant,,ENST00000524926,NM_001363592.1;BEST1,non_coding_transcript_exon_variant,,ENST00000524877,;BEST1,downstream_gene_variant,,ENST00000529265,;FTH1,downstream_gene_variant,,ENST00000532829,;FTH1,downstream_gene_variant,,ENST00000533138,;FTH1,downstream_gene_variant,,ENST00000534180,;FTH1,downstream_gene_variant,,ENST00000534719,; T ENSG00000167995 ENST00000449131 Transcript missense_variant 1216/4267 1130/1815 377/604 R/M aGg/aTg 1 NA 1 BEST1 HGNC HGNC:12703 protein_coding YES CCDS44623.1 ENSP00000399709 O76090.191 UPI0000232791 NM_001139443.2,NM_001363593.2,NM_001363591.2 tolerated(0.09) possibly_damaging(0.562) 9/9 PANTHER:PTHR10736,PANTHER:PTHR10736:SF4 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . AGG . 4078.6 NA NA NA NA NA NA NA NA NA 61962464 AHNAK 79026 . GRCh38 chr11 62531149 62531149 + Missense_Mutation SNP G G A rs148272375 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3268C>T p.Pro1090Ser p.P1090S ENST00000378024 5/5 NA NA NA NA NA NA AHNAK,missense_variant,p.Pro1090Ser,ENST00000378024,NM_001620.3,NM_001346445.2,NM_001346446.2;AHNAK,intron_variant,,ENST00000257247,NM_024060.4;AHNAK,intron_variant,,ENST00000530124,;AHNAK,intron_variant,,ENST00000533365,;AHNAK,downstream_gene_variant,,ENST00000528508,;AHNAK,downstream_gene_variant,,ENST00000530285,;AHNAK,downstream_gene_variant,,ENST00000531324,; A ENSG00000124942 ENST00000378024 Transcript missense_variant 3514/18761 3268/17673 1090/5890 P/S Cca/Tca rs148272375 1 NA -1 AHNAK HGNC HGNC:347 protein_coding YES CCDS31584.1 ENSP00000367263 Q09666.175 UPI00004EC29C NM_001620.3,NM_001346445.2,NM_001346446.2 deleterious(0.03) probably_damaging(0.997) 5/5 PANTHER:PTHR23348,PANTHER:PTHR23348,PANTHER:PTHR23348:SF41,PANTHER:PTHR23348:SF41 NA NA NA NA NA NA NA 0.0002271 0.0001163 NA NA NA NA MODERATE 1 SNV 2 NA NA NA . GGT . 3632.6 0.0001075 6.175e-05 NA NA NA 4.622e-05 0.0002112 0.0001633 NA 62531149 TUT1 64852 . GRCh38 chr11 62578709 62578709 + Frame_Shift_Del DEL C C - novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1126del p.Ala376GlnfsTer59 p.A376Qfs*59 ENST00000308436 5/9 NA NA NA NA NA NA TUT1,frameshift_variant,p.Ala376GlnfsTer59,ENST00000308436,;TUT1,frameshift_variant,p.Ala338GlnfsTer59,ENST00000476907,NM_001367906.1,NM_022830.3;TUT1,downstream_gene_variant,,ENST00000278279,;EEF1G,upstream_gene_variant,,ENST00000329251,NM_001404.5;TUT1,downstream_gene_variant,,ENST00000494385,;EEF1G,upstream_gene_variant,,ENST00000532986,;AP002990.1,frameshift_variant,p.Ala338GlnfsTer59,ENST00000496634,;TUT1,upstream_gene_variant,,ENST00000463241,;TUT1,upstream_gene_variant,,ENST00000469480,;TUT1,downstream_gene_variant,,ENST00000478537,;EEF1G,upstream_gene_variant,,ENST00000525340,;AP002990.1,upstream_gene_variant,,ENST00000526409,;AP002990.1,upstream_gene_variant,,ENST00000534745,; - ENSG00000149016 ENST00000308436 Transcript frameshift_variant 1164/2826 1126/2739 376/912 A/X Gca/ca 1 NA -1 TUT1 HGNC HGNC:26184 protein_coding YES CCDS8021.2 ENSP00000308000 F5H0R1.69 UPI000199421A 5/9 PANTHER:PTHR12271:SF11,PANTHER:PTHR12271,Superfamily:SSF81301 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 NA NA NA . TGCC . 3448.6 NA NA NA NA NA NA NA NA NA 62578708 B3GAT3 26229 . GRCh38 chr11 62617161 62617161 + Silent SNP G G A rs772764321 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.444C>T p.Gly148= p.G148= ENST00000265471 3/5 NA NA NA NA NA NA B3GAT3,synonymous_variant,p.Gly148=,ENST00000531383,NM_001288722.2;B3GAT3,synonymous_variant,p.Gly148=,ENST00000265471,NM_012200.4,NM_001288721.2;B3GAT3,synonymous_variant,p.Gly148=,ENST00000534026,NM_001288723.2;B3GAT3,synonymous_variant,p.Gly171=,ENST00000534715,;ROM1,downstream_gene_variant,,ENST00000278833,NM_000327.4;EML3,upstream_gene_variant,,ENST00000278845,;EML3,upstream_gene_variant,,ENST00000394773,NM_153265.3;EML3,upstream_gene_variant,,ENST00000419857,;EML3,upstream_gene_variant,,ENST00000466671,;EML3,upstream_gene_variant,,ENST00000466886,;ROM1,downstream_gene_variant,,ENST00000525801,;ROM1,downstream_gene_variant,,ENST00000525947,;EML3,upstream_gene_variant,,ENST00000529309,NM_001300794.2,NM_001300793.2;ROM1,downstream_gene_variant,,ENST00000534093,;ROM1,downstream_gene_variant,,ENST00000529273,;B3GAT3,3_prime_UTR_variant,,ENST00000532585,;B3GAT3,non_coding_transcript_exon_variant,,ENST00000533303,;EML3,upstream_gene_variant,,ENST00000494448,; A ENSG00000149541 ENST00000265471 Transcript synonymous_variant 483/1452 444/1008 148/335 G ggC/ggT rs772764321 1 NA -1 B3GAT3 HGNC HGNC:923 protein_coding YES CCDS8025.1 ENSP00000265471 O94766.189 UPI000006F88E NM_012200.4,NM_001288721.2 3/5 PDB-ENSP_mappings:1fgg.A,PDB-ENSP_mappings:1fgg.B,PDB-ENSP_mappings:1kws.A,PDB-ENSP_mappings:1kws.B,PDB-ENSP_mappings:3cu0.A,PDB-ENSP_mappings:3cu0.B,CDD:cd00218,PANTHER:PTHR10896:SF9,PANTHER:PTHR10896,Pfam:PF03360,Gene3D:3.90.550.10,Superfamily:SSF53448 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . CGC . 3597.6 6.393e-05 NA 2.894e-05 NA 0.0001634 NA 9.741e-05 NA 3.267e-05 62617161 HNRNPUL2 221092 . GRCh38 chr11 62722125 62722125 + Missense_Mutation SNP C C T rs1438983393 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1351G>A p.Glu451Lys p.E451K ENST00000301785 7/14 NA NA NA NA NA NA HNRNPUL2,missense_variant,p.Glu451Lys,ENST00000301785,NM_001079559.3;HNRNPUL2-BSCL2,missense_variant,p.Glu451Lys,ENST00000403734,;HNRNPUL2,downstream_gene_variant,,ENST00000540127,;,regulatory_region_variant,,ENSR00000956996,;,regulatory_region_variant,,ENSR00000956997,;,TF_binding_site_variant,,ENSM00131856321,;,TF_binding_site_variant,,ENSM00131231520,;,TF_binding_site_variant,,ENSM00131784938,;,TF_binding_site_variant,,ENSM00132933059,;,TF_binding_site_variant,,ENSM00170199223,;,TF_binding_site_variant,,ENSM00169550565,;,TF_binding_site_variant,,ENSM00208527006,;,TF_binding_site_variant,,ENSM00167873302,;,TF_binding_site_variant,,ENSM00170827293,;,TF_binding_site_variant,,ENSM00169550488,;,TF_binding_site_variant,,ENSM00132132142,;,TF_binding_site_variant,,ENSM00131296764,;,TF_binding_site_variant,,ENSM00170199212,;,TF_binding_site_variant,,ENSM00170199229,;,TF_binding_site_variant,,ENSM00130927030,;,TF_binding_site_variant,,ENSM00208770604,; T ENSG00000214753 ENST00000301785 Transcript missense_variant 1652/5214 1351/2244 451/747 E/K Gaa/Aaa rs1438983393 1 NA -1 HNRNPUL2 HGNC HGNC:25451 protein_coding YES CCDS41659.1 ENSP00000301785 Q1KMD3.133 UPI0000161949 NM_001079559.3 deleterious(0.03) benign(0.051) 7/14 PANTHER:PTHR12381,PANTHER:PTHR12381:SF66,Gene3D:3.40.50.300 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . TCC . 2472.6 NA NA NA NA NA NA NA NA NA 62722125 SLC3A2 6520 . GRCh38 chr11 62882057 62882057 + Frame_Shift_Del DEL A A - rs760089491 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.902del p.Lys301ArgfsTer31 p.K301Rfs*31 ENST00000377891 5/12 NA NA NA NA NA NA SLC3A2,frameshift_variant,p.Lys301ArgfsTer31,ENST00000377891,NM_001012662.3;SLC3A2,frameshift_variant,p.Lys300ArgfsTer31,ENST00000377890,NM_002394.6;SLC3A2,frameshift_variant,p.Lys269ArgfsTer31,ENST00000535296,;SLC3A2,frameshift_variant,p.Lys238ArgfsTer31,ENST00000377889,NM_001012664.3;SLC3A2,frameshift_variant,p.Lys199ArgfsTer31,ENST00000338663,NM_001013251.3;SLC3A2,5_prime_UTR_variant,,ENST00000536981,;SLC3A2,5_prime_UTR_variant,,ENST00000539891,;SLC3A2,downstream_gene_variant,,ENST00000538084,;SLC3A2,downstream_gene_variant,,ENST00000539458,;SLC3A2,upstream_gene_variant,,ENST00000539507,;SLC3A2,downstream_gene_variant,,ENST00000541372,;SLC3A2,downstream_gene_variant,,ENST00000544377,;SLC3A2,non_coding_transcript_exon_variant,,ENST00000538682,;SLC3A2,non_coding_transcript_exon_variant,,ENST00000457660,;SLC3A2,non_coding_transcript_exon_variant,,ENST00000537839,;SLC3A2,non_coding_transcript_exon_variant,,ENST00000537508,;SLC3A2,non_coding_transcript_exon_variant,,ENST00000546253,;SLC3A2,non_coding_transcript_exon_variant,,ENST00000541649,;SLC3A2,upstream_gene_variant,,ENST00000535768,;SLC3A2,upstream_gene_variant,,ENST00000541425,;SLC3A2,upstream_gene_variant,,ENST00000542922,;SLC3A2,upstream_gene_variant,,ENST00000546312,;,regulatory_region_variant,,ENSR00000040491,; - ENSG00000168003 ENST00000377891 Transcript frameshift_variant 1054/2222 895/1896 299/631 K/X Aaa/aa rs760089491 1 NA 1 SLC3A2 HGNC HGNC:11026 protein_coding YES CCDS31588.1 ENSP00000367123 J3KPF3.75 UPI00004EC298 NM_001012662.3 5/12 PDB-ENSP_mappings:6irs.A,PDB-ENSP_mappings:6irt.A,CDD:cd11345,PANTHER:PTHR46673,Pfam:PF00128,Gene3D:3.20.20.80,SMART:SM00642,Superfamily:SSF51445 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 2 7 NA NA . CTAA . 1073.6 NA NA NA NA NA NA NA NA NA 62882056 CHRM1 1128 . GRCh38 chr11 62910116 62910116 + Missense_Mutation SNP G G T rs777030658 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.985C>A p.Pro329Thr p.P329T ENST00000306960 2/2 NA NA NA NA NA NA CHRM1,missense_variant,p.Pro329Thr,ENST00000306960,NM_000738.3;CHRM1,missense_variant,p.Pro329Thr,ENST00000543973,;CHRM1,downstream_gene_variant,,ENST00000536524,;AP000438.1,intron_variant,,ENST00000543624,; T ENSG00000168539 ENST00000306960 Transcript missense_variant 1209/2646 985/1383 329/460 P/T Ccg/Acg rs777030658 1 NA -1 CHRM1 HGNC HGNC:1950 protein_coding YES CCDS8040.1 ENSP00000306490 P11229.204 Q53XZ3.140 UPI00001252AB NM_000738.3 tolerated(0.25) possibly_damaging(0.538) 2/2 PDB-ENSP_mappings:6oij.R,MobiDB_lite:mobidb-lite,PROSITE_profiles:PS50262,CDD:cd17790,PANTHER:PTHR24248:SF155,PANTHER:PTHR24248,Pfam:PF00001,Superfamily:SSF81321 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . GGC . 3323.6 2.819e-05 NA NA NA NA NA NA NA 0.0002322 62910116 MACROD1 28992 . GRCh38 chr11 64165921 64165921 + Missense_Mutation SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.74G>A p.Arg25His p.R25H ENST00000675777 1/10 NA NA NA NA NA NA MACROD1,missense_variant,p.Arg25His,ENST00000255681,NM_014067.4;MACROD1,missense_variant,p.Arg25His,ENST00000675777,;MACROD1,non_coding_transcript_exon_variant,,ENST00000538595,;MACROD1,upstream_gene_variant,,ENST00000542359,;MACROD1,non_coding_transcript_exon_variant,,ENST00000545464,;,regulatory_region_variant,,ENSR00000040625,;,TF_binding_site_variant,,ENSM00211705052,;,TF_binding_site_variant,,ENSM00197570547,; T ENSG00000133315 ENST00000675777 Transcript missense_variant 193/1214 74/1005 25/334 R/H cGc/cAc 1 NA -1 MACROD1 HGNC HGNC:29598 protein_coding YES ENSP00000502549 UPI000387AFDC deleterious_low_confidence(0) benign(0.112) 1/10 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV NA NA NA NA . GCG . 2301.6 NA NA NA NA NA NA NA NA NA 64165921 PPP1R14B 26472 . GRCh38 chr11 64246634 64246634 + Missense_Mutation SNP C C T rs750523503 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.40G>A p.Ala14Thr p.A14T ENST00000309318 1/4 NA NA NA NA NA NA PPP1R14B,missense_variant,p.Ala14Thr,ENST00000309318,NM_138689.3;PLCB3,upstream_gene_variant,,ENST00000279230,NM_000932.5;FKBP2,downstream_gene_variant,,ENST00000309366,NM_004470.4,NM_001370367.1,NM_001370362.1,NM_001370363.1,NM_001370360.1,NM_057092.2;PLCB3,upstream_gene_variant,,ENST00000325234,NM_001184883.2;PPP1R14B,upstream_gene_variant,,ENST00000392210,;FKBP2,downstream_gene_variant,,ENST00000449942,NM_001135208.1;FKBP2,downstream_gene_variant,,ENST00000535135,;PLCB3,upstream_gene_variant,,ENST00000540288,NM_001316314.2;PPP1R14B,upstream_gene_variant,,ENST00000542235,;FKBP2,downstream_gene_variant,,ENST00000652094,NM_001370365.1;AP001453.3,downstream_gene_variant,,ENST00000652762,NM_001370414.1;PPP1R14B-AS1,intron_variant,,ENST00000544553,;PPP1R14B-AS1,intron_variant,,ENST00000663760,;PPP1R14B-AS1,upstream_gene_variant,,ENST00000538355,;AP001453.2,downstream_gene_variant,,ENST00000545800,;PPP1R14B-AS1,upstream_gene_variant,,ENST00000652899,;FKBP2,downstream_gene_variant,,ENST00000536642,;FKBP2,downstream_gene_variant,,ENST00000541388,;AP001453.3,downstream_gene_variant,,ENST00000650773,;,regulatory_region_variant,,ENSR00000040638,; T ENSG00000173457 ENST00000309318 Transcript missense_variant 310/989 40/444 14/147 A/T Gcc/Acc rs750523503,COSV54185926 1 NA -1 PPP1R14B HGNC HGNC:9057 protein_coding YES CCDS31596.1 ENSP00000310117 Q96C90.146 UPI000006D596 NM_138689.3 tolerated_low_confidence(0.49) benign(0.133) 1/4 Low_complexity_(Seg):seg,MobiDB_lite:mobidb-lite,PANTHER:PTHR16188,PANTHER:PTHR16188:SF5 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 1 NA 0,1 NA NA . GCC . 841.6 8.171e-05 NA NA NA NA NA 0.0001077 NA 0.0002938 64246634 NRXN2 9379 . GRCh38 chr11 64607463 64607463 + Silent SNP G G A rs760914333 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4872C>T p.Gly1624= p.G1624= ENST00000265459 23/23 NA NA NA NA NA NA NRXN2,synonymous_variant,p.Gly1624=,ENST00000265459,NM_001376265.1,NM_001376262.1,NM_015080.4;NRXN2,synonymous_variant,p.Gly1554=,ENST00000377559,NM_138732.3;NRXN2,synonymous_variant,p.Gly1617=,ENST00000409571,NM_001376266.1,NM_001376267.1,NM_001376263.1;NRXN2,synonymous_variant,p.Gly578=,ENST00000301894,NM_138734.3;NRXN2,non_coding_transcript_exon_variant,,ENST00000475737,;NRXN2,non_coding_transcript_exon_variant,,ENST00000464307,; A ENSG00000110076 ENST00000265459 Transcript synonymous_variant 5343/6632 4872/5139 1624/1712 G ggC/ggT rs760914333 1 NA -1 NRXN2 HGNC HGNC:8009 protein_coding YES CCDS8077.1 ENSP00000265459 Q9P2S2.179 UPI0000130AA2 NM_001376265.1,NM_001376262.1,NM_015080.4 23/23 PANTHER:PTHR15036,PANTHER:PTHR15036:SF52 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA 1 . CGC . 3064.6 1.261e-05 NA NA NA NA 0.0001031 9.477e-06 NA NA 64607463 EHD1 10938 . GRCh38 chr11 64854474 64854474 + Silent SNP G G T NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1506C>A p.Ala502= p.A502= ENST00000621096 6/6 NA NA NA NA NA NA EHD1,synonymous_variant,p.Ala488=,ENST00000320631,NM_006795.4;EHD1,synonymous_variant,p.Ala488=,ENST00000359393,NM_001282444.2;EHD1,synonymous_variant,p.Ala502=,ENST00000621096,NM_001282445.1;EHD1,downstream_gene_variant,,ENST00000421510,;EHD1,downstream_gene_variant,,ENST00000433803,;EHD1,non_coding_transcript_exon_variant,,ENST00000488711,;EHD1,non_coding_transcript_exon_variant,,ENST00000484846,;EHD1,downstream_gene_variant,,ENST00000498472,; T ENSG00000110047 ENST00000621096 Transcript synonymous_variant 1589/3336 1506/1647 502/548 A gcC/gcA COSV100276874 1 NA -1 EHD1 HGNC HGNC:3242 protein_coding YES CCDS73315.1 ENSP00000479153 A0A024R571.57 UPI0000EE46CF NM_001282445.1 6/6 PROSITE_profiles:PS50031,PROSITE_profiles:PS50222,CDD:cd00052,PANTHER:PTHR11216:SF127,PANTHER:PTHR11216,Pfam:PF12763,Gene3D:1.10.238.10,SMART:SM00027,Superfamily:SSF47473 NA NA NA NA NA NA NA NA NA 1 NA NA NA NA LOW 1 SNV 5 NA 1 NA NA . CGG . 8829.6 NA NA NA NA NA NA NA NA NA 64854474 ZFPL1 7542 . GRCh38 chr11 65086572 65086572 + Silent SNP A A G novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.372A>G p.Thr124= p.T124= ENST00000294258 4/8 NA NA NA NA NA NA ZFPL1,synonymous_variant,p.Thr124=,ENST00000294258,NM_006782.4;ZFPL1,synonymous_variant,p.Thr124=,ENST00000532200,;ZFPL1,synonymous_variant,p.Thr124=,ENST00000526334,;ZFPL1,synonymous_variant,p.Thr118=,ENST00000526945,;ZFPL1,intron_variant,,ENST00000530488,;CDCA5,upstream_gene_variant,,ENST00000275517,NM_080668.4;CDCA5,upstream_gene_variant,,ENST00000404147,;TMEM262,downstream_gene_variant,,ENST00000524603,;TMEM262,downstream_gene_variant,,ENST00000524632,NM_001242631.2;ZFPL1,downstream_gene_variant,,ENST00000525509,;ZFPL1,downstream_gene_variant,,ENST00000526791,;VPS51,upstream_gene_variant,,ENST00000528588,;TMEM262,downstream_gene_variant,,ENST00000530719,NM_001282448.1;ZFPL1,3_prime_UTR_variant,,ENST00000453524,;ZFPL1,3_prime_UTR_variant,,ENST00000531761,;TMEM262,non_coding_transcript_exon_variant,,ENST00000528029,;ZFPL1,non_coding_transcript_exon_variant,,ENST00000650243,;ZFPL1,non_coding_transcript_exon_variant,,ENST00000528123,;ZFPL1,intron_variant,,ENST00000530744,;TMEM262,downstream_gene_variant,,ENST00000334821,;CDCA5,upstream_gene_variant,,ENST00000462902,;CDCA5,upstream_gene_variant,,ENST00000479032,;CDCA5,upstream_gene_variant,,ENST00000524733,;TMEM262,downstream_gene_variant,,ENST00000525544,;ZFPL1,downstream_gene_variant,,ENST00000526289,;ZFPL1,downstream_gene_variant,,ENST00000526440,;CDCA5,upstream_gene_variant,,ENST00000527430,;CDCA5,upstream_gene_variant,,ENST00000531401,;CDCA5,upstream_gene_variant,,ENST00000533015,;ZFPL1,downstream_gene_variant,,ENST00000533216,; G ENSG00000162300 ENST00000294258 Transcript synonymous_variant 537/1382 372/933 124/310 T acA/acG 1 NA 1 ZFPL1 HGNC HGNC:12868 protein_coding YES CCDS8092.1 ENSP00000294258 O95159.140 A0A024R576.36 UPI000007347E NM_006782.4 4/8 PANTHER:PTHR12981 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . CAG . 6118.6 NA NA NA NA NA NA NA NA NA 65086572 PCNX3 399909 . GRCh38 chr11 65635277 65635277 + Silent SNP G G A rs754552967 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.5013G>A p.Ala1671= p.A1671= ENST00000355703 31/35 NA NA NA NA NA NA PCNX3,synonymous_variant,p.Ala1671=,ENST00000355703,NM_032223.3;SIPA1,upstream_gene_variant,,ENST00000394224,NM_153253.29;SIPA1,upstream_gene_variant,,ENST00000526137,;SIPA1,upstream_gene_variant,,ENST00000527525,;SIPA1,upstream_gene_variant,,ENST00000533361,;SIPA1,upstream_gene_variant,,ENST00000534313,NM_006747.4;MIR4690,upstream_gene_variant,,ENST00000578459,;PCNX3,downstream_gene_variant,,ENST00000531280,;PCNX3,non_coding_transcript_exon_variant,,ENST00000439247,; A ENSG00000197136 ENST00000355703 Transcript synonymous_variant 5552/7105 5013/6105 1671/2034 A gcG/gcA rs754552967 1 NA 1 PCNX3 HGNC HGNC:18760 protein_coding YES CCDS44650.1 ENSP00000347931 Q9H6A9.116 UPI0000405B22 NM_032223.3 31/35 Pfam:PF05041,PANTHER:PTHR12372,PANTHER:PTHR12372:SF4 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW NA SNV 5 NA NA NA . CGG . 4951.6 3.385e-05 NA 0.0001353 0.0001072 6.964e-05 NA NA 0.0001883 NA 65635277 NPAS4 266743 . GRCh38 chr11 66422700 66422700 + Missense_Mutation SNP A A G novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.457A>G p.Thr153Ala p.T153A ENST00000311034 4/8 NA NA NA NA NA NA NPAS4,missense_variant,p.Thr153Ala,ENST00000311034,NM_001318804.1,NM_178864.4;NPAS4,missense_variant,p.Thr153Ala,ENST00000639555,;NPAS4,missense_variant,p.Thr153Ala,ENST00000525148,;NPAS4,upstream_gene_variant,,ENST00000524617,; G ENSG00000174576 ENST00000311034 Transcript missense_variant 602/3272 457/2409 153/802 T/A Acc/Gcc 1 NA 1 NPAS4 HGNC HGNC:18983 protein_coding YES CCDS8138.1 ENSP00000311196 Q8IUM7.138 UPI0000074744 NM_001318804.1,NM_178864.4 deleterious(0.04) possibly_damaging(0.84) 4/8 Gene3D:3.30.450.20,PANTHER:PTHR23043,PANTHER:PTHR23043:SF24 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CAC . 3475.6 NA NA NA NA NA NA NA NA NA 66422700 DPP3 10072 . GRCh38 chr11 66495259 66495259 + Silent SNP G G T rs201930013 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1503G>T p.Thr501= p.T501= ENST00000531863 13/18 NA NA NA NA NA NA DPP3,synonymous_variant,p.Thr500=,ENST00000532677,;DPP3,synonymous_variant,p.Thr501=,ENST00000531863,;DPP3,synonymous_variant,p.Thr481=,ENST00000541961,NM_130443.4,NM_005700.5;DPP3,synonymous_variant,p.Thr451=,ENST00000530165,NM_001256670.2;DPP3,downstream_gene_variant,,ENST00000533725,;DPP3,non_coding_transcript_exon_variant,,ENST00000533799,;DPP3,downstream_gene_variant,,ENST00000525738,;DPP3,non_coding_transcript_exon_variant,,ENST00000526667,;DPP3,non_coding_transcript_exon_variant,,ENST00000526250,;,regulatory_region_variant,,ENSR00000433047,;,regulatory_region_variant,,ENSR00000433048,; T ENSG00000254986 ENST00000531863 Transcript synonymous_variant 1904/2974 1503/2274 501/757 T acG/acT rs201930013,COSV64757323 1 NA 1 DPP3 HGNC HGNC:3008 protein_coding YES ENSP00000432782 G3V180.87 UPI0000EE4697 13/18 PANTHER:PTHR23422,PANTHER:PTHR23422:SF11,PIRSF:PIRSF007828,Pfam:PF03571 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA LOW 1 SNV 1 NA 0,1 NA NA . CGG . 3146.6 3.978e-06 NA NA NA NA NA 8.794e-06 NA NA 66495259 AP002748.5 582 . GRCh38 chr11 66532017 66532017 + Missense_Mutation SNP G G A rs761304709 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1873G>A p.Glu625Lys p.E625K ENST00000419755 17/17 NA NA NA NA NA NA AP002748.5,missense_variant,p.Glu625Lys,ENST00000419755,;BBS1,missense_variant,p.Glu588Lys,ENST00000318312,NM_024649.5;BBS1,missense_variant,p.Glu491Lys,ENST00000455748,;BBS1,3_prime_UTR_variant,,ENST00000630659,;BBS1,3_prime_UTR_variant,,ENST00000393994,;ZDHHC24,intron_variant,,ENST00000526986,NM_001348571.2;ZDHHC24,downstream_gene_variant,,ENST00000310442,NM_207340.3;BBS1,downstream_gene_variant,,ENST00000529766,;BBS1,3_prime_UTR_variant,,ENST00000526760,;BBS1,non_coding_transcript_exon_variant,,ENST00000529955,;ZDHHC24,intron_variant,,ENST00000534073,;BBS1,downstream_gene_variant,,ENST00000527959,; A ENSG00000256349 ENST00000419755 Transcript missense_variant 1951/3547 1873/1893 625/630 E/K Gag/Aag rs761304709 1 NA 1 AP002748.5 Clone_based_ensembl_gene protein_coding YES ENSP00000398526 UPI000006E494 deleterious(0) probably_damaging(0.985) 17/17 PANTHER:PTHR20870 NA NA NA NA NA NA NA NA NA uncertain_significance NA NA NA NA MODERATE NA SNV 2 NA 1 NA NA . CGA . 5473.6 2.537e-05 NA 0.0001494 NA 5.655e-05 NA NA NA NA 66532017 CCS 9973 . GRCh38 chr11 66593698 66593698 + Silent SNP C C A rs967951335 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.96C>A p.Ser32= p.S32= ENST00000533244 2/8 NA NA NA NA NA NA CCS,synonymous_variant,p.Ser32=,ENST00000533244,NM_005125.2;CCS,synonymous_variant,p.Ser13=,ENST00000310190,;CCDC87,upstream_gene_variant,,ENST00000333861,NM_018219.3;CCS,synonymous_variant,p.Ser32=,ENST00000530961,;CCS,non_coding_transcript_exon_variant,,ENST00000530384,;CCS,non_coding_transcript_exon_variant,,ENST00000526066,;CCS,non_coding_transcript_exon_variant,,ENST00000531990,;CCS,intron_variant,,ENST00000526058,;,regulatory_region_variant,,ENSR00000040986,; A ENSG00000173992 ENST00000533244 Transcript synonymous_variant 173/1066 96/825 32/274 S tcC/tcA rs967951335,COSV100040252 1 NA 1 CCS HGNC HGNC:1613 protein_coding YES CCDS8146.1 ENSP00000436318 O14618.187 UPI0000127323 NM_005125.2 2/8 PDB-ENSP_mappings:2crl.A,PDB-ENSP_mappings:2rsq.A,PDB-ENSP_mappings:6fon.A,PDB-ENSP_mappings:6fon.C,PDB-ENSP_mappings:6fp6.B,PDB-ENSP_mappings:6fp6.D,PDB-ENSP_mappings:6fp6.F,PDB-ENSP_mappings:6fp6.H,PDB-ENSP_mappings:6fp6.J,PDB-ENSP_mappings:6fp6.L,PDB-ENSP_mappings:6fp6.N,PDB-ENSP_mappings:6fp6.P,PDB-ENSP_mappings:6fp6.R,PDB-ENSP_mappings:6fp6.T,PDB-ENSP_mappings:6fp6.V,PDB-ENSP_mappings:6fp6.X,PROSITE_profiles:PS50846,CDD:cd00371,PANTHER:PTHR10003,PANTHER:PTHR10003:SF27,Gene3D:3.30.70.100,Pfam:PF00403,Superfamily:SSF55008 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA LOW 1 SNV 1 NA 0,1 NA NA . CCC . 2619.6 NA NA NA NA NA NA NA NA NA 66593698 PC 5091 . GRCh38 chr11 66850393 66850393 + Missense_Mutation SNP C C T rs1200819608 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2545G>A p.Asp849Asn p.D849N ENST00000651854 22/26 NA NA NA NA NA NA PC,missense_variant,p.Asp849Asn,ENST00000651854,;PC,missense_variant,p.Asp849Asn,ENST00000651036,;PC,missense_variant,p.Asp849Asn,ENST00000652125,;PC,missense_variant,p.Asp849Asn,ENST00000393960,NM_001040716.2;PC,missense_variant,p.Asp849Asn,ENST00000529047,;PC,missense_variant,p.Asp849Asn,ENST00000393958,NM_000920.4;PC,missense_variant,p.Asp849Asn,ENST00000393955,NM_022172.3;RCE1,downstream_gene_variant,,ENST00000309657,NM_005133.3;RCE1,downstream_gene_variant,,ENST00000524506,;RCE1,downstream_gene_variant,,ENST00000525356,NM_001032279.2;PC,downstream_gene_variant,,ENST00000528403,;PC,intron_variant,,ENST00000525476,;PC,downstream_gene_variant,,ENST00000651831,;PC,downstream_gene_variant,,ENST00000652387,;PC,3_prime_UTR_variant,,ENST00000651469,;PC,3_prime_UTR_variant,,ENST00000528224,;RCE1,downstream_gene_variant,,ENST00000524849,;PC,downstream_gene_variant,,ENST00000530259,;RCE1,downstream_gene_variant,,ENST00000533277,; T ENSG00000173599 ENST00000651854 Transcript missense_variant 3796/5137 2545/3537 849/1178 D/N Gac/Aac rs1200819608,COSV58994140 1 NA -1 PC HGNC HGNC:8636 protein_coding YES CCDS8152.1 ENSP00000498994 P11498.222 A0A024R5C5.53 UPI0000132BC4 deleterious(0) possibly_damaging(0.561) 22/26 PANTHER:PTHR43778,Gene3D:3.10.600.10,PIRSF:PIRSF001594,Gene3D:1.10.472.90,TIGRFAM:TIGR01235,Superfamily:SSF51569 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE NA SNV NA NA 0,1 NA 1 . TCG . 3633.6 3.979e-06 NA NA NA NA NA 8.8e-06 NA NA 66850393 PC 5091 . GRCh38 chr11 66872091 66872091 + Frame_Shift_Del DEL G G - novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.69del p.Ala24LeufsTer41 p.A24Lfs*41 ENST00000651854 7/26 NA NA NA NA NA NA PC,frameshift_variant,p.Ala24LeufsTer41,ENST00000651854,;PC,frameshift_variant,p.Ala24LeufsTer41,ENST00000651036,;PC,frameshift_variant,p.Ala24LeufsTer41,ENST00000652125,;PC,frameshift_variant,p.Ala24LeufsTer41,ENST00000393960,NM_001040716.2;PC,frameshift_variant,p.Ala24LeufsTer41,ENST00000529047,;PC,frameshift_variant,p.Ala24LeufsTer41,ENST00000393958,NM_000920.4;PC,frameshift_variant,p.Ala24LeufsTer41,ENST00000393955,NM_022172.3;PC,frameshift_variant,p.Ala24LeufsTer41,ENST00000528403,;PC,frameshift_variant,p.Ala24LeufsTer41,ENST00000524491,;PC,frameshift_variant,p.Ala24LeufsTer41,ENST00000531614,;PC,upstream_gene_variant,,ENST00000628663,;PC,intron_variant,,ENST00000525476,;PC,frameshift_variant,p.Ala24LeufsTer41,ENST00000651469,;PC,frameshift_variant,p.Ala24LeufsTer41,ENST00000528224,; - ENSG00000173599 ENST00000651854 Transcript frameshift_variant 1320/5137 69/3537 23/1178 P/X ccC/cc 1 NA -1 PC HGNC HGNC:8636 protein_coding YES CCDS8152.1 ENSP00000498994 P11498.222 A0A024R5C5.53 UPI0000132BC4 7/26 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion NA NA NA 1 . GCGG . 2854.6 NA NA NA NA NA NA NA NA NA 66872090 SYT12 91683 . GRCh38 chr11 67039910 67039910 + Silent SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.328C>T p.Leu110= p.L110= ENST00000393946 7/11 NA NA NA NA NA NA SYT12,synonymous_variant,p.Leu110=,ENST00000393946,;SYT12,synonymous_variant,p.Leu110=,ENST00000527043,NM_177963.4,NM_001318775.2;SYT12,synonymous_variant,p.Leu110=,ENST00000525457,NM_001318773.2,NM_001177880.2;SYT12,downstream_gene_variant,,ENST00000533427,;SYT12,non_coding_transcript_exon_variant,,ENST00000526281,;SYT12,non_coding_transcript_exon_variant,,ENST00000525149,; T ENSG00000173227 ENST00000393946 Transcript synonymous_variant 1490/4534 328/1266 110/421 L Ctg/Ttg 1 NA 1 SYT12 HGNC HGNC:18381 protein_coding YES CCDS8154.1 ENSP00000377520 Q8IV01.143 UPI00000746CD 7/11 PANTHER:PTHR10024,PANTHER:PTHR10024:SF252 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 2 NA NA NA . ACT . 5550.6 NA NA NA NA NA NA NA NA NA 67039910 KDM2A 22992 . GRCh38 chr11 67245217 67245217 + Missense_Mutation SNP G G A NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1592G>A p.Arg531Gln p.R531Q ENST00000529006 14/21 NA NA NA NA NA NA KDM2A,missense_variant,p.Arg531Gln,ENST00000529006,NM_012308.3;KDM2A,missense_variant,p.Arg531Gln,ENST00000398645,;KDM2A,missense_variant,p.Arg514Gln,ENST00000308783,;KDM2A,missense_variant,p.Arg92Gln,ENST00000530342,NM_001256405.2;KDM2A,non_coding_transcript_exon_variant,,ENST00000526258,;KDM2A,non_coding_transcript_exon_variant,,ENST00000531696,;KDM2A,non_coding_transcript_exon_variant,,ENST00000525041,;KDM2A,non_coding_transcript_exon_variant,,ENST00000529124,;KDM2A,downstream_gene_variant,,ENST00000517637,;KDM2A,upstream_gene_variant,,ENST00000534486,; A ENSG00000173120 ENST00000529006 Transcript missense_variant 2462/7386 1592/3489 531/1162 R/Q cGg/cAg COSV58190855 1 NA 1 KDM2A HGNC HGNC:13606 protein_coding YES CCDS44657.1 ENSP00000432786 Q9Y2K7.185 I3VM53.76 UPI00001678A9 NM_012308.3 tolerated(0.33) benign(0.003) 14/21 PANTHER:PTHR23123:SF3,PANTHER:PTHR23123 NA NA NA NA NA NA NA NA NA 1 NA NA NA NA MODERATE 1 SNV 1 NA 1 NA NA . CGG . 2748.6 NA NA NA NA NA NA NA NA NA 67245217 CLCF1 23529 . GRCh38 chr11 67365629 67365629 + Missense_Mutation SNP A A C novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.185T>G p.Leu62Arg p.L62R ENST00000312438 3/3 NA NA NA NA NA NA CLCF1,missense_variant,p.Leu62Arg,ENST00000312438,NM_013246.3;CLCF1,missense_variant,p.Leu52Arg,ENST00000533438,NM_001166212.2;AP003419.1,intron_variant,,ENST00000543494,;RN7SKP239,downstream_gene_variant,,ENST00000364814,;RAD9A,intron_variant,,ENST00000622583,; C ENSG00000175505 ENST00000312438 Transcript missense_variant,splice_region_variant 244/1705 185/678 62/225 L/R cTg/cGg 1 NA -1 CLCF1 HGNC HGNC:17412 protein_coding YES CCDS31617.1 ENSP00000309338 Q9UBD9.156 UPI000003F7F1 NM_013246.3 deleterious(0) probably_damaging(0.999) 3/3 Gene3D:1.20.1250.10,Pfam:PF06875,PANTHER:PTHR21353,PANTHER:PTHR21353:SF7,Superfamily:SSF47266 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . CAG . 5631.6 NA NA NA NA NA NA NA NA NA 67365629 PITPNM1 9600 . GRCh38 chr11 67494259 67494259 + Silent SNP C C T rs764353042 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2844G>A p.Thr948= p.T948= ENST00000356404 19/24 NA NA NA NA NA NA PITPNM1,synonymous_variant,p.Thr948=,ENST00000356404,NM_004910.3;PITPNM1,synonymous_variant,p.Thr947=,ENST00000436757,NM_001130848.2;PITPNM1,synonymous_variant,p.Thr948=,ENST00000534749,;AIP,downstream_gene_variant,,ENST00000279146,NM_003977.4,NM_001302960.2,NM_001302959.1;AIP,downstream_gene_variant,,ENST00000525341,;AIP,downstream_gene_variant,,ENST00000528641,;MIR6752,downstream_gene_variant,,ENST00000618442,;PITPNM1,non_coding_transcript_exon_variant,,ENST00000527370,;PITPNM1,non_coding_transcript_exon_variant,,ENST00000526450,;PITPNM1,downstream_gene_variant,,ENST00000525568,;PITPNM1,downstream_gene_variant,,ENST00000526602,;AIP,downstream_gene_variant,,ENST00000529797,; T ENSG00000110697 ENST00000356404 Transcript synonymous_variant 3061/4217 2844/3735 948/1244 T acG/acA rs764353042,COSV54160869 1 NA -1 PITPNM1 HGNC HGNC:9003 protein_coding YES CCDS31620.1 ENSP00000348772 O00562.154 A0A024R5I7.50 UPI00001FAD31 NM_004910.3 19/24 PANTHER:PTHR10658,PANTHER:PTHR10658:SF40 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA LOW 1 SNV 1 NA 0,1 NA NA . GCG . 8497.6 8.019e-06 NA NA NA NA NA 1.784e-05 NA NA 67494259 TCIRG1 10312 . GRCh38 chr11 68049208 68049208 + Missense_Mutation SNP G G A rs199995618 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1801G>A p.Ala601Thr p.A601T ENST00000265686 15/20 NA NA NA NA NA NA TCIRG1,missense_variant,p.Ala601Thr,ENST00000265686,NM_006019.4;TCIRG1,missense_variant,p.Ala385Thr,ENST00000532635,NM_001351059.2,NM_006053.3;CHKA,downstream_gene_variant,,ENST00000265689,NM_001376221.1,NM_001376220.1,NM_001277.3,NM_001376219.1;CHKA,downstream_gene_variant,,ENST00000356135,NM_001376222.1,NM_212469.2;TCIRG1,downstream_gene_variant,,ENST00000524598,;TCIRG1,downstream_gene_variant,,ENST00000529364,;TCIRG1,upstream_gene_variant,,ENST00000530063,;AP002807.1,upstream_gene_variant,,ENST00000526897,;AP002807.1,upstream_gene_variant,,ENST00000529934,;AP002807.1,upstream_gene_variant,,ENST00000534517,;MIR6753,downstream_gene_variant,,ENST00000617169,;TCIRG1,upstream_gene_variant,,ENST00000530802,;CHKA,downstream_gene_variant,,ENST00000533728,;TCIRG1,non_coding_transcript_exon_variant,,ENST00000525724,;TCIRG1,non_coding_transcript_exon_variant,,ENST00000533005,;TCIRG1,non_coding_transcript_exon_variant,,ENST00000524870,;CHKA,downstream_gene_variant,,ENST00000525155,;TCIRG1,downstream_gene_variant,,ENST00000525516,;TCIRG1,downstream_gene_variant,,ENST00000527530,;TCIRG1,downstream_gene_variant,,ENST00000528981,;TCIRG1,upstream_gene_variant,,ENST00000530449,; A ENSG00000110719 ENST00000265686 Transcript missense_variant 1900/2668 1801/2493 601/830 A/T Gcc/Acc rs199995618 1 NA 1 TCIRG1 HGNC HGNC:11647 protein_coding YES CCDS8177.1 ENSP00000265686 Q13488.191 A0A024R5E5.40 UPI000006EC9A NM_006019.4 tolerated(0.6) benign(0.044) 15/20 Transmembrane_helices:TMhelix,PANTHER:PTHR11629,PANTHER:PTHR11629:SF21,PIRSF:PIRSF001293,Pfam:PF01496 4e-04 NA NA NA 0.001 NA 0.001 0.0002274 0.0001164 NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . CGC . 3684.6 5.97e-05 6.165e-05 2.891e-05 NA 5.437e-05 NA 5.28e-05 0.000163 0.0001633 68049208 LRP5 4041 . GRCh38 chr11 68347898 68347898 + Missense_Mutation SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.143C>T p.Ala48Val p.A48V ENST00000294304 2/23 NA NA NA NA NA NA LRP5,missense_variant,p.Ala48Val,ENST00000294304,NM_002335.4,NM_001291902.2;LRP5,missense_variant,p.Ala48Val,ENST00000529993,; T ENSG00000162337 ENST00000294304 Transcript missense_variant 267/5177 143/4848 48/1615 A/V gCc/gTc 1 NA 1 LRP5 HGNC HGNC:6697 protein_coding YES CCDS8181.1 ENSP00000294304 O75197.194 UPI0000073246 NM_002335.4,NM_001291902.2 tolerated(0.38) benign(0.018) 2/23 Gene3D:2.120.10.30,PIRSF:PIRSF036314,PANTHER:PTHR46513,PANTHER:PTHR46513:SF16,Superfamily:SSF63825 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . GCC . 3603.6 NA NA NA NA NA NA NA NA NA 68347898 CCND1 595 . GRCh38 chr11 69651250 69651250 + Missense_Mutation SNP A A G NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.856A>G p.Thr286Ala p.T286A ENST00000227507 5/5 NA NA NA NA NA NA CCND1,missense_variant,p.Thr286Ala,ENST00000227507,NM_053056.3;CCND1,downstream_gene_variant,,ENST00000536559,;LTO1,downstream_gene_variant,,ENST00000538554,;LTO1,downstream_gene_variant,,ENST00000542515,;LTO1,downstream_gene_variant,,ENST00000569105,;CCND1,non_coding_transcript_exon_variant,,ENST00000542367,;CCND1,downstream_gene_variant,,ENST00000545484,; G ENSG00000110092 ENST00000227507 Transcript missense_variant 1014/4238 856/888 286/295 T/A Aca/Gca COSV57121499,COSV57122110 1 NA 1 CCND1 HGNC HGNC:1582 protein_coding YES CCDS8191.1 ENSP00000227507 P24385.218 Q6FI00.136 UPI0000001285 NM_053056.3 deleterious(0.01) possibly_damaging(0.84) 5/5 PDB-ENSP_mappings:5vzu.E,PDB-ENSP_mappings:5vzu.F,MobiDB_lite:mobidb-lite,PANTHER:PTHR10177,PANTHER:PTHR10177:SF67,SMART:SM01332 NA NA NA NA NA NA NA NA NA 1,1 NA NA NA NA MODERATE 1 SNV 1 NA 1,1 NA 1 . CAC . 1980.6 NA NA NA NA NA NA NA NA NA 69651250 ANO1 55107 . GRCh38 chr11 70182536 70182536 + Missense_Mutation SNP C C T rs909083725 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2438C>T p.Pro813Leu p.P813L ENST00000355303 24/26 NA NA NA NA NA NA ANO1,missense_variant,p.Pro813Leu,ENST00000355303,NM_001378092.1,NM_001378093.1,NM_001378095.1,NM_018043.6,NM_001378094.1,NM_001378097.1;ANO1,missense_variant,p.Pro522Leu,ENST00000531349,;ANO1,missense_variant,p.Pro667Leu,ENST00000530676,NM_001378096.1;ANO1,non_coding_transcript_exon_variant,,ENST00000525494,;ANO1,downstream_gene_variant,,ENST00000529636,; T ENSG00000131620 ENST00000355303 Transcript missense_variant 2743/4790 2438/2961 813/986 P/L cCg/cTg rs909083725 1 NA 1 ANO1 HGNC HGNC:21625 protein_coding YES CCDS44663.1 ENSP00000347454 Q5XXA6.133 UPI000013CE03 NM_001378092.1,NM_001378093.1,NM_001378095.1,NM_018043.6,NM_001378094.1,NM_001378097.1 deleterious(0) probably_damaging(1) 24/26 PANTHER:PTHR12308:SF13,PANTHER:PTHR12308,Pfam:PF04547 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CCG . 2076.6 8.299e-06 NA NA NA NA NA 1.827e-05 NA NA 70182536 PPFIA1 8500 . GRCh38 chr11 70343674 70343674 + Silent SNP A A G rs756408095 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1659A>G p.Gln553= p.Q553= ENST00000644155 14/30 NA NA NA NA NA NA PPFIA1,synonymous_variant,p.Gln553=,ENST00000644155,NM_001378006.1;PPFIA1,synonymous_variant,p.Gln571=,ENST00000253925,NM_003626.5;PPFIA1,synonymous_variant,p.Gln571=,ENST00000389547,NM_177423.3;PPFIA1,intron_variant,,ENST00000530798,;PPFIA1,upstream_gene_variant,,ENST00000528750,;AP002336.2,intron_variant,,ENST00000528607,;PPFIA1,non_coding_transcript_exon_variant,,ENST00000530294,;PPFIA1,non_coding_transcript_exon_variant,,ENST00000526347,;PPFIA1,non_coding_transcript_exon_variant,,ENST00000528284,;PPFIA1,intron_variant,,ENST00000526074,;PPFIA1,downstream_gene_variant,,ENST00000532443,;PPFIA1,missense_variant,p.Lys565Arg,ENST00000532504,;PPFIA1,missense_variant,p.Lys369Arg,ENST00000526262,;PPFIA1,missense_variant,p.Lys79Arg,ENST00000526369,;PPFIA1,3_prime_UTR_variant,,ENST00000648755,;PPFIA1,upstream_gene_variant,,ENST00000530390,;PPFIA1,upstream_gene_variant,,ENST00000533894,; G ENSG00000131626 ENST00000644155 Transcript synonymous_variant 1658/5996 1659/3675 553/1224 Q caA/caG rs756408095 1 NA 1 PPFIA1 HGNC HGNC:9245 protein_coding YES ENSP00000496327 A0A2R8Y7R9.12 UPI000D195166 NM_001378006.1 14/30 PANTHER:PTHR12587,PANTHER:PTHR12587:SF15 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW NA SNV NA NA NA NA . AAA . 1025.6 2.387e-05 NA NA NA 5.437e-05 NA 4.398e-05 NA NA 70343674 KRTAP5-7 440050 . GRCh38 chr11 71527403 71527403 + Missense_Mutation SNP T T C rs201466466 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.103T>C p.Cys35Arg p.C35R ENST00000398536 1/1 NA NA NA NA NA NA KRTAP5-7,missense_variant,p.Cys35Arg,ENST00000398536,NM_001012503.2;NADSYN1,downstream_gene_variant,,ENST00000527963,; C ENSG00000244411 ENST00000398536 Transcript missense_variant 137/1403 103/498 35/165 C/R Tgc/Cgc rs201466466,COSV68325045 1 NA 1 KRTAP5-7 HGNC HGNC:23602 protein_coding YES CCDS41682.1 ENSP00000417330 Q6L8G8.106 UPI0000376061 NM_001012503.2 deleterious_low_confidence(0) probably_damaging(0.919) 1/1 Low_complexity_(Seg):seg,PANTHER:PTHR23262:SF130,PANTHER:PTHR23262 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV NA NA 0,1 NA NA . CTG . 119.6 3.994e-06 NA NA NA NA NA 8.826e-06 NA NA 71527403 KRTAP5-7 440050 . GRCh38 chr11 71527629 71527630 + In_Frame_Ins INS - - CTGCTGCCAGTCCAGCTGCTGTAAGCCCTG rs771895560 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.366_395dup p.Gln123_Cys132dup p.Q123_C132dup ENST00000398536 1/1 NA NA NA NA NA NA KRTAP5-7,inframe_insertion,p.Gln123_Cys132dup,ENST00000398536,NM_001012503.2;NADSYN1,downstream_gene_variant,,ENST00000527963,;,regulatory_region_variant,,ENSR00000958244,; CTGCTGCCAGTCCAGCTGCTGTAAGCCCTG ENSG00000244411 ENST00000398536 Transcript inframe_insertion 363-364/1403 329-330/498 110/165 S/SCCQSSCCKPC tcc/tcCTGCTGCCAGTCCAGCTGCTGTAAGCCCTGc rs771895560 1 NA 1 KRTAP5-7 HGNC HGNC:23602 protein_coding YES CCDS41682.1 ENSP00000417330 Q6L8G8.106 UPI0000376061 NM_001012503.2 1/1 Low_complexity_(Seg):seg,PANTHER:PTHR23262:SF130,PANTHER:PTHR23262 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 insertion NA 66 NA NA . TCC . 7456.06 NA NA NA NA NA NA NA NA NA 71527629 KRTAP5-8 57830 . GRCh38 chr11 71538079 71538080 + In_Frame_Ins INS - - GGCTGTGGCTCCGGCTGTGGG rs55848980 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.30_50dup p.Gly20_Ser26dup p.G20_S26dup ENST00000398534 1/1 NA NA NA NA NA NA KRTAP5-8,inframe_insertion,p.Gly20_Ser26dup,ENST00000398534,NM_021046.3; GGCTGTGGCTCCGGCTGTGGG ENSG00000241233 ENST00000398534 Transcript inframe_insertion 55-56/1185 24-25/564 8-9/187 -/GCGSGCG -/GGCTGTGGCTCCGGCTGTGGG rs55848980 1 NA 1 KRTAP5-8 HGNC HGNC:23603 protein_coding YES CCDS41683.1 ENSP00000420723 O75690.128 UPI000013ECDA NM_021046.3 1/1 Low_complexity_(Seg):seg,PANTHER:PTHR23262,PANTHER:PTHR23262:SF130 NA 0.5862 0.4409 NA 0.4544 0.328 0.3098 NA NA NA NA NA NA MODERATE 1 insertion NA 26 NA NA . GAG . 1982.64 NA NA NA NA NA NA NA NA NA 71538079 KRTAP5-10 387273 . GRCh38 chr11 71565611 71565612 + In_Frame_Ins INS - - GGCTGTGGCTCCGGCTGTGGG rs71049990 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.27_47dup p.Cys24_Gly30dup p.C24_G30dup ENST00000398531 1/1 NA NA NA NA NA NA KRTAP5-10,inframe_insertion,p.Cys24_Gly30dup,ENST00000398531,NM_001012710.2;AP000867.5,upstream_gene_variant,,ENST00000661699,;,regulatory_region_variant,,ENSR00000958251,;AP000867.1,upstream_gene_variant,,ENST00000511464,; GGCTGTGGCTCCGGCTGTGGG ENSG00000204572 ENST00000398531 Transcript inframe_insertion 49-50/1173 24-25/609 8-9/202 -/GCGSGCG -/GGCTGTGGCTCCGGCTGTGGG rs71049990 1 NA 1 KRTAP5-10 HGNC HGNC:23605 protein_coding YES CCDS41684.1 ENSP00000381542 Q6L8G5.99 UPI0000376062 NM_001012710.2 1/1 Low_complexity_(Seg):seg,PANTHER:PTHR23262,PANTHER:PTHR23262:SF178 NA 0.5129 0.5231 NA 0.5258 0.3807 0.274 NA NA NA NA NA NA MODERATE 1 insertion NA 23 NA NA . GAG . 656.64 NA NA NA NA NA NA NA NA NA 71565611 KRTAP5-10 387273 . GRCh38 chr11 71565863 71565864 + In_Frame_Ins INS - - GGCTGTGGCTCCTGTGGGGGCTCCAAGGGA rs1555158767 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.305_306insAGGCTGTGGCTCCTGTGGGGGCTCCAAGGG p.Gly129_Gly138dup p.G129_G138dup ENST00000398531 1/1 NA NA NA NA NA NA KRTAP5-10,inframe_insertion,p.Gly129_Gly138dup,ENST00000398531,NM_001012710.2;AP000867.5,upstream_gene_variant,,ENST00000661699,;AP000867.1,upstream_gene_variant,,ENST00000511464,; GGCTGTGGCTCCTGTGGGGGCTCCAAGGGA ENSG00000204572 ENST00000398531 Transcript inframe_insertion 301-302/1173 276-277/609 92-93/202 -/GCGSCGGSKG -/GGCTGTGGCTCCTGTGGGGGCTCCAAGGGA rs1555158767 1 NA 1 KRTAP5-10 HGNC HGNC:23605 protein_coding YES CCDS41684.1 ENSP00000381542 Q6L8G5.99 UPI0000376062 NM_001012710.2 1/1 Low_complexity_(Seg):seg,PANTHER:PTHR23262,PANTHER:PTHR23262:SF178 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 insertion NA 29 NA NA . GGG . 563.64 NA NA NA NA NA NA NA NA NA 71565863 KRTAP5-11 440051 . GRCh38 chr11 71579744 71579745 + In_Frame_Ins INS - - CAGCAGCTGGACTGGGAGCAGCAGGACCTG rs71049992 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.527_528insCAGGTCCTGCTGCTCCCAGTCCAGCTGCTG p.Cys176_Val177insArgSerCysCysSerGlnSerSerCysCys p.C176_V177insRSCCSQSSCC ENST00000617152 2/2 NA NA NA NA NA NA KRTAP5-11,inframe_insertion,p.Cys176_Val177insArgSerCysCysSerGlnSerSerCysCys,ENST00000617152,;KRTAP5-11,downstream_gene_variant,,ENST00000398530,NM_001005405.3;KRTAP5-11,downstream_gene_variant,,ENST00000526239,;,regulatory_region_variant,,ENSR00000264753,;,regulatory_region_variant,,ENSR00000958254,;KRTAP5-14P,non_coding_transcript_exon_variant,,ENST00000502328,; CAGCAGCTGGACTGGGAGCAGCAGGACCTG ENSG00000204571 ENST00000617152 Transcript inframe_insertion 527-528/558 527-528/558 176/185 C/CRSCCSQSSCC tgt/tgCAGGTCCTGCTGCTCCCAGTCCAGCTGCTGt rs71049992 1 NA -1 KRTAP5-11 HGNC HGNC:23606 protein_coding YES ENSP00000481216 A0A087WXQ9.28 UPI0004E4CA92 2/2 Low_complexity_(Seg):seg,PANTHER:PTHR23262,PANTHER:PTHR23262:SF131,Pfam:PF13885 NA 0.3079 0.3199 NA 0.2817 0.2753 0.2945 NA NA NA NA NA NA MODERATE 1 insertion 5 NA NA NA . CAC . 3389.06 NA NA NA NA NA NA NA NA NA 71579744 ZNF705E 0 . GRCh38 chr11 71816746 71816746 + Silent SNP T T C rs11235112 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.669A>G p.Thr223= p.T223= ENST00000525199 5/5 NA NA NA NA NA NA ZNF705E,synonymous_variant,p.Thr223=,ENST00000525199,NM_001278713.1;ALG1L9P,intron_variant,,ENST00000525473,;ALG1L9P,upstream_gene_variant,,ENST00000508969,;ALG1L9P,upstream_gene_variant,,ENST00000511954,;ALG1L9P,upstream_gene_variant,,ENST00000524714,;ALG1L9P,upstream_gene_variant,,ENST00000657407,;ALG1L9P,upstream_gene_variant,,ENST00000661578,;ALG1L9P,upstream_gene_variant,,ENST00000664227,;ALG1L9P,upstream_gene_variant,,ENST00000665956,;ALG1L9P,upstream_gene_variant,,ENST00000670269,; C ENSG00000214534 ENST00000525199 Transcript synonymous_variant 741/3442 669/903 223/300 T acA/acG rs11235112,COSV72520290 1 NA -1 ZNF705E HGNC HGNC:33203 protein_coding YES CCDS86225.1 ENSP00000492790 A8MWA4.93 UPI000049DD43 NM_001278713.1 5/5 PROSITE_profiles:PS50157,PANTHER:PTHR24381:SF312,PANTHER:PTHR24381,Gene3D:3.30.160.60,Superfamily:SSF57667 0.4972 0.3253 0.4366 NA 0.4563 0.6531 0.6544 NA NA 0,1 NA NA NA NA LOW 1 SNV 2 NA 0,1 NA NA . CTG . 12002.03 NA NA NA NA NA NA NA NA NA 71816746 ZNF705E 0 . GRCh38 chr11 71816849 71816849 + Missense_Mutation SNP C C T rs10898678 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.566G>A p.Arg189Gln p.R189Q ENST00000525199 5/5 NA NA NA NA NA NA ZNF705E,missense_variant,p.Arg189Gln,ENST00000525199,NM_001278713.1;ALG1L9P,intron_variant,,ENST00000525473,;ALG1L9P,upstream_gene_variant,,ENST00000508969,;ALG1L9P,upstream_gene_variant,,ENST00000511954,;ALG1L9P,upstream_gene_variant,,ENST00000524714,;ALG1L9P,upstream_gene_variant,,ENST00000657407,;ALG1L9P,upstream_gene_variant,,ENST00000661578,;ALG1L9P,upstream_gene_variant,,ENST00000664227,;ALG1L9P,upstream_gene_variant,,ENST00000665956,;ALG1L9P,upstream_gene_variant,,ENST00000670269,; T ENSG00000214534 ENST00000525199 Transcript missense_variant 638/3442 566/903 189/300 R/Q cGg/cAg rs10898678,COSV72520291 1 NA -1 ZNF705E HGNC HGNC:33203 protein_coding YES CCDS86225.1 ENSP00000492790 A8MWA4.93 UPI000049DD43 NM_001278713.1 tolerated(0.86) possibly_damaging(0.673) 5/5 PROSITE_profiles:PS50157,PANTHER:PTHR24381:SF312,PANTHER:PTHR24381,Gene3D:3.30.160.60,SMART:SM00355,Superfamily:SSF57667 0.4253 0.2526 0.3674 NA 0.3651 0.5954 0.5869 NA NA 0,1 NA NA NA NA MODERATE 1 SNV 2 NA 0,1 NA NA . CCG . 18162.03 NA NA NA NA NA NA NA NA NA 71816849 ZNF705E 0 . GRCh38 chr11 71818206 71818206 + Missense_Mutation SNP T T A rs3819237 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.265A>T p.Met89Leu p.M89L ENST00000525199 4/5 NA NA NA NA NA NA ZNF705E,missense_variant,p.Met89Leu,ENST00000525199,NM_001278713.1;ALG1L9P,non_coding_transcript_exon_variant,,ENST00000525473,;ALG1L9P,upstream_gene_variant,,ENST00000508969,;ALG1L9P,upstream_gene_variant,,ENST00000511954,;ALG1L9P,upstream_gene_variant,,ENST00000524714,;ALG1L9P,upstream_gene_variant,,ENST00000657407,;ALG1L9P,upstream_gene_variant,,ENST00000661578,;ALG1L9P,upstream_gene_variant,,ENST00000664227,;ALG1L9P,upstream_gene_variant,,ENST00000665956,;ALG1L9P,upstream_gene_variant,,ENST00000670269,; A ENSG00000214534 ENST00000525199 Transcript missense_variant 337/3442 265/903 89/300 M/L Atg/Ttg rs3819237,COSV72520292 1 NA -1 ZNF705E HGNC HGNC:33203 protein_coding YES CCDS86225.1 ENSP00000492790 A8MWA4.93 UPI000049DD43 NM_001278713.1 tolerated(0.08) benign(0.001) 4/5 PANTHER:PTHR24381:SF312,PANTHER:PTHR24381 0.4816 0.2837 0.4308 NA 0.4415 0.6511 0.6524 NA NA 0,1 NA NA NA NA MODERATE 1 SNV 2 NA 0,1 NA NA . ATG . 6924.03 NA NA NA NA NA NA NA NA NA 71818206 ZNF705E 0 . GRCh38 chr11 71819721 71819721 + Nonsense_Mutation SNP C C T rs11235129 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.63G>A p.Trp21Ter p.W21* ENST00000525199 2/5 NA NA NA NA NA NA ZNF705E,stop_gained,p.Trp21Ter,ENST00000525199,NM_001278713.1;ALG1L9P,upstream_gene_variant,,ENST00000525473,; T ENSG00000214534 ENST00000525199 Transcript stop_gained 135/3442 63/903 21/300 W/* tgG/tgA rs11235129,COSV73123555 1 NA -1 ZNF705E HGNC HGNC:33203 protein_coding YES CCDS86225.1 ENSP00000492790 A8MWA4.93 UPI000049DD43 NM_001278713.1 2/5 PROSITE_profiles:PS50805,CDD:cd07765,PANTHER:PTHR24381:SF312,PANTHER:PTHR24381,Pfam:PF01352,SMART:SM00349,Superfamily:SSF109640 0.4253 0.2526 0.3674 NA 0.3651 0.5954 0.5869 NA NA 0,1 NA NA NA NA HIGH 1 SNV 2 NA 0,1 NA NA . CCC . 6548.03 NA NA NA NA NA NA NA NA NA 71819721 IL18BP 10068 . GRCh38 chr11 72001266 72001266 + Silent SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.301C>T p.Leu101= p.L101= ENST00000497194 3/4 NA NA NA NA NA NA IL18BP,synonymous_variant,p.Leu101=,ENST00000497194,NM_005699.3;IL18BP,synonymous_variant,p.Leu101=,ENST00000404792,NM_173042.2;IL18BP,synonymous_variant,p.Leu101=,ENST00000393703,NM_001039660.2;IL18BP,synonymous_variant,p.Leu101=,ENST00000337131,;IL18BP,synonymous_variant,p.Leu101=,ENST00000620017,NM_173044.2;IL18BP,synonymous_variant,p.Leu101=,ENST00000393705,NM_001039659.1;IL18BP,synonymous_variant,p.Leu101=,ENST00000260049,NM_001145057.1;IL18BP,synonymous_variant,p.Leu101=,ENST00000531053,;IL18BP,intron_variant,,ENST00000393707,NM_001145055.1;NUMA1,downstream_gene_variant,,ENST00000351960,;NUMA1,downstream_gene_variant,,ENST00000358965,NM_001286561.1;RNF121,downstream_gene_variant,,ENST00000361756,NM_018320.5;NUMA1,downstream_gene_variant,,ENST00000393695,NM_006185.4;RNF121,downstream_gene_variant,,ENST00000393713,NM_001300926.1;RNF121,downstream_gene_variant,,ENST00000530137,;RNF121,downstream_gene_variant,,ENST00000533380,;NUMA1,downstream_gene_variant,,ENST00000541584,;NUMA1,downstream_gene_variant,,ENST00000613205,;NUMA1,downstream_gene_variant,,ENST00000616538,;NUMA1,downstream_gene_variant,,ENST00000620566,;IL18BP,downstream_gene_variant,,ENST00000414358,;IL18BP,downstream_gene_variant,,ENST00000525932,;IL18BP,downstream_gene_variant,,ENST00000531777,;NUMA1,downstream_gene_variant,,ENST00000541262,;IL18BP,synonymous_variant,p.Leu101=,ENST00000343898,;IL18BP,synonymous_variant,p.Leu101=,ENST00000534583,;RNF121,downstream_gene_variant,,ENST00000525243,;RNF121,downstream_gene_variant,,ENST00000526549,;RNF121,downstream_gene_variant,,ENST00000530655,;RNF121,downstream_gene_variant,,ENST00000532379,;NUMA1,downstream_gene_variant,,ENST00000540626,;NUMA1,downstream_gene_variant,,ENST00000545721,; T ENSG00000137496 ENST00000497194 Transcript synonymous_variant 1673/4080 301/600 101/199 L Ctg/Ttg 1 NA 1 IL18BP HGNC HGNC:5987 protein_coding YES CCDS8207.2 ENSP00000434717 G3V1C5.87 UPI0000D487E5 NM_005699.3 3/4 Gene3D:2.60.40.10,PROSITE_profiles:PS50835,PANTHER:PTHR14292,Superfamily:SSF48726 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . GCT . 4084.6 NA NA NA NA NA NA NA NA NA 72001266 NUMA1 4926 . GRCh38 chr11 72014606 72014606 + Missense_Mutation SNP G G A rs1317939783 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2897C>T p.Ala966Val p.A966V ENST00000393695 15/27 NA NA NA NA NA NA NUMA1,missense_variant,p.Ala966Val,ENST00000358965,NM_001286561.1;NUMA1,missense_variant,p.Ala966Val,ENST00000393695,NM_006185.4;NUMA1,missense_variant,p.Ala966Val,ENST00000620566,;NUMA1,missense_variant,p.Ala966Val,ENST00000616538,;NUMA1,intron_variant,,ENST00000351960,;NUMA1,intron_variant,,ENST00000613205,;NUMA1,downstream_gene_variant,,ENST00000537217,;NUMA1,downstream_gene_variant,,ENST00000537930,;NUMA1,upstream_gene_variant,,ENST00000541584,;NUMA1,downstream_gene_variant,,ENST00000542977,;NUMA1,downstream_gene_variant,,ENST00000543009,;NUMA1,downstream_gene_variant,,ENST00000543937,;NUMA1,downstream_gene_variant,,ENST00000544129,;NUMA1,downstream_gene_variant,,ENST00000544238,;AP002490.1,non_coding_transcript_exon_variant,,ENST00000502284,;NUMA1,downstream_gene_variant,,ENST00000534987,;NUMA1,downstream_gene_variant,,ENST00000536119,;NUMA1,downstream_gene_variant,,ENST00000540843,;NUMA1,upstream_gene_variant,,ENST00000540588,;NUMA1,upstream_gene_variant,,ENST00000545721,;,regulatory_region_variant,,ENSR00000958306,; A ENSG00000137497 ENST00000393695 Transcript missense_variant 3084/7198 2897/6348 966/2115 A/V gCg/gTg rs1317939783 1 NA -1 NUMA1 HGNC HGNC:8059 protein_coding YES CCDS31633.1 ENSP00000377298 Q14980.187 UPI000013DB8B NM_006185.4 deleterious(0.03) benign(0.266) 15/27 PANTHER:PTHR18902,PANTHER:PTHR18902:SF24 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . CGC . 1567.6 NA NA NA NA NA NA NA NA NA 72014606 FOLR3 2352 . GRCh38 chr11 72139111 72139112 + Frame_Shift_Del DEL TA TA - rs71891516 NA HCI-EC-23 NORMAL TA TA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.320_321del p.Tyr107Ter p.Y107* ENST00000611028 3/5 NA NA NA NA NA NA FOLR3,frameshift_variant,p.Tyr107Ter,ENST00000611028,NM_001318045.2,NM_000804.4;FOLR3,frameshift_variant,p.Tyr107Ter,ENST00000622388,;FOLR3,coding_sequence_variant,,ENST00000442948,;FOLR3,downstream_gene_variant,,ENST00000546166,;FOLR3,frameshift_variant,p.Met150GlufsTer139,ENST00000612844,;FOLR3,upstream_gene_variant,,ENST00000545379,; - ENSG00000110203 ENST00000611028 Transcript frameshift_variant 369-370/849 319-320/738 107/245 Y/X TAt/t rs71891516 1 NA 1 FOLR3 HGNC HGNC:3795 protein_coding YES CCDS73344.1 ENSP00000481114 P41439.143 UPI0000D4B12C NM_001318045.2,NM_000804.4 3/5 PANTHER:PTHR10517:SF17,PANTHER:PTHR10517,Pfam:PF03024 NA NA NA NA NA NA NA NA NA 27141497,28948692,23754956 NA NA NA NA HIGH 1 deletion 1 1 1 NA NA . TCTAT . 22784.03 NA NA NA NA NA NA NA NA NA 72139110 INPPL1 3636 . GRCh38 chr11 72237704 72237704 + Frame_Shift_Del DEL C C - rs760925109 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3466del p.Arg1156GlyfsTer46 p.R1156Gfs*46 ENST00000298229 26/28 NA NA NA NA NA NA INPPL1,frameshift_variant,p.Arg1156GlyfsTer46,ENST00000298229,NM_001567.4;INPPL1,frameshift_variant,p.Arg914GlyfsTer46,ENST00000538751,;INPPL1,frameshift_variant,p.Pro1089ArgfsTer104,ENST00000541756,;INPPL1,frameshift_variant,p.Arg169GlyfsTer59,ENST00000541752,;INPPL1,frameshift_variant,p.Arg18GlyfsTer46,ENST00000320683,;PHOX2A,downstream_gene_variant,,ENST00000298231,NM_005169.4;PHOX2A,downstream_gene_variant,,ENST00000546310,;PHOX2A,downstream_gene_variant,,ENST00000544057,;INPPL1,intron_variant,,ENST00000535985,;INPPL1,downstream_gene_variant,,ENST00000541303,;INPPL1,downstream_gene_variant,,ENST00000545355,;,regulatory_region_variant,,ENSR00000434862,; - ENSG00000165458 ENST00000298229 Transcript frameshift_variant 3678/4789 3460/3777 1154/1258 P/X Ccc/cc rs760925109 1 NA 1 INPPL1 HGNC HGNC:6080 protein_coding YES CCDS8213.1 ENSP00000298229 O15357.160 UPI000013E4AF NM_001567.4 26/28 PANTHER:PTHR46051,PANTHER:PTHR46051:SF2 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 6 NA 1 . AGCC . 6631.03 8.488e-06 NA 2.965e-05 NA NA NA 9.57e-06 NA NA 72237703 ARAP1 116985 . GRCh38 chr11 72713202 72713202 + Frame_Shift_Del DEL C C - NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.721del p.Ala241ProfsTer5 p.A241Pfs*5 ENST00000393609 5/35 NA NA NA NA NA NA ARAP1,frameshift_variant,p.Ala241ProfsTer5,ENST00000359373,;ARAP1,frameshift_variant,p.Ala241ProfsTer5,ENST00000393609,NM_001040118.2;ARAP1,5_prime_UTR_variant,,ENST00000334211,NM_015242.4;ARAP1,5_prime_UTR_variant,,ENST00000426523,NM_001369489.1;ARAP1,5_prime_UTR_variant,,ENST00000429686,NM_001135190.1;ARAP1,upstream_gene_variant,,ENST00000393605,;ARAP1,upstream_gene_variant,,ENST00000542264,;ARAP1,non_coding_transcript_exon_variant,,ENST00000465814,;RPS12P20,downstream_gene_variant,,ENST00000464109,; - ENSG00000186635 ENST00000393609 Transcript frameshift_variant 924/5145 721/4353 241/1450 A/X Gcc/cc COSV61996073 1 NA -1 ARAP1 HGNC HGNC:16925 protein_coding YES CCDS41687.1 ENSP00000377233 Q96P48.181 UPI000053F81B NM_001040118.2 5/35 MobiDB_lite:mobidb-lite,PANTHER:PTHR45899,PANTHER:PTHR45899:SF3,Superfamily:SSF50729 NA NA NA NA NA NA NA NA NA 1 NA NA NA NA HIGH 1 deletion 2 NA 1 NA NA . GGCC . 4636.6 NA NA NA NA NA NA NA NA NA 72713201 RELT 84957 . GRCh38 chr11 73393853 73393853 + Nonsense_Mutation SNP C C A rs761383470 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.642C>A p.Tyr214Ter p.Y214* ENST00000064780 7/11 NA NA NA NA NA NA RELT,stop_gained,p.Tyr214Ter,ENST00000064780,NM_152222.2;RELT,stop_gained,p.Tyr214Ter,ENST00000393580,NM_032871.3;RELT,downstream_gene_variant,,ENST00000545687,;AP000763.4,downstream_gene_variant,,ENST00000544674,;RELT,missense_variant,p.Pro102Thr,ENST00000544075,;RELT,non_coding_transcript_exon_variant,,ENST00000545886,;RELT,non_coding_transcript_exon_variant,,ENST00000539134,;RELT,non_coding_transcript_exon_variant,,ENST00000537771,;,regulatory_region_variant,,ENSR00000435235,;,regulatory_region_variant,,ENSR00000958508,; A ENSG00000054967 ENST00000064780 Transcript stop_gained 768/3402 642/1293 214/430 Y/* taC/taA rs761383470 1 NA 1 RELT HGNC HGNC:13764 protein_coding YES CCDS8222.1 ENSP00000064780 Q969Z4.161 A0A024R5N3.54 UPI000003C9E6 NM_152222.2 7/11 PANTHER:PTHR47397 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 SNV 1 NA NA 1 . ACC . 2452.6 3.977e-06 NA NA NA NA NA 8.79e-06 NA NA 73393853 PGM2L1 283209 . GRCh38 chr11 74338548 74338548 + Silent SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1686C>T p.Gly562= p.G562= ENST00000298198 13/14 NA NA NA NA NA NA PGM2L1,synonymous_variant,p.Gly562=,ENST00000298198,NM_173582.6; A ENSG00000165434 ENST00000298198 Transcript synonymous_variant 1958/8477 1686/1869 562/622 G ggC/ggT 1 NA -1 PGM2L1 HGNC HGNC:20898 protein_coding YES CCDS8231.1 ENSP00000298198 Q6PCE3.144 UPI0000072053 NM_173582.6 13/14 CDD:cd05799,PANTHER:PTHR45745,PANTHER:PTHR45745:SF2,Pfam:PF00408,Superfamily:SSF55957 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . AGC . 3605.6 NA NA NA NA NA NA NA NA NA 74338548 PAK1 5058 . GRCh38 chr11 77343835 77343835 + Missense_Mutation SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.982G>A p.Val328Met p.V328M ENST00000278568 10/16 NA NA NA NA NA NA PAK1,missense_variant,p.Val328Met,ENST00000356341,NM_001376273.1,NM_001376301.1,NM_001376290.1,NM_002576.5,NM_001376281.1,NM_001376283.1,NM_001376276.1,NM_001376280.1,NM_001376284.1,NM_001376282.1,NM_001376277.1,NM_001376293.1,NM_001376278.1,NM_001376303.1,NM_001376295.1,NM_001376291.1,NM_001376292.1,NM_001376274.1,NM_001376272.1,NM_001376279.1,NM_001376275.1,NM_001376294.1,NM_001376286.1,NM_001376287.1,NM_001376285.1;PAK1,missense_variant,p.Val328Met,ENST00000530617,NM_001376288.1;PAK1,missense_variant,p.Val328Met,ENST00000278568,NM_001376268.1,NM_001128620.2,NM_001376270.1,NM_001376289.1,NM_001376269.1,NM_001376271.1;PAK1,missense_variant,p.Val230Met,ENST00000528203,NM_001376304.1,NM_001376305.1,NM_001376302.1;PAK1,missense_variant,p.Val50Met,ENST00000533285,;PAK1,non_coding_transcript_exon_variant,,ENST00000525542,;PAK1,3_prime_UTR_variant,,ENST00000527535,;PAK1,non_coding_transcript_exon_variant,,ENST00000532991,;PAK1,non_coding_transcript_exon_variant,,ENST00000532711,;PAK1,intron_variant,,ENST00000527457,; T ENSG00000149269 ENST00000278568 Transcript missense_variant 1512/2543 982/1662 328/553 V/M Gtg/Atg 1 NA -1 PAK1 HGNC HGNC:8590 protein_coding YES CCDS44687.1 ENSP00000278568 Q13153.222 UPI000013DB7F NM_001376268.1,NM_001128620.2,NM_001376270.1,NM_001376289.1,NM_001376269.1,NM_001376271.1 deleterious(0) probably_damaging(0.989) 10/16 PROSITE_profiles:PS50011,CDD:cd06647,PANTHER:PTHR45832,PANTHER:PTHR45832:SF10,Gene3D:3.30.200.20,Pfam:PF00069,SMART:SM00220,Superfamily:SSF56112 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 2 NA NA 1 . ACA . 2509.6 NA NA NA NA NA NA NA NA NA 77343835 TENM4 26011 . GRCh38 chr11 78854263 78854263 + Missense_Mutation SNP G G A rs932746364 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1522C>T p.Arg508Trp p.R508W ENST00000278550 12/34 NA NA NA NA NA NA TENM4,missense_variant,p.Arg508Trp,ENST00000278550,NM_001098816.3; A ENSG00000149256 ENST00000278550 Transcript missense_variant 2364/14381 1522/8310 508/2769 R/W Cgg/Tgg rs932746364,COSV53652783 1 NA -1 TENM4 HGNC HGNC:29945 protein_coding YES CCDS44688.1 ENSP00000278550 Q6N022.138 UPI0000DD8112 NM_001098816.3 tolerated(0.22) possibly_damaging(0.549) 12/34 PANTHER:PTHR11219:SF9,PANTHER:PTHR11219 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 5 NA 0,1 NA 1 . CGC . 4397.6 4.75e-05 NA 4.408e-05 NA 9.526e-05 NA 8.716e-05 NA NA 78854263 PCF11 51585 . GRCh38 chr11 83157627 83157627 + Missense_Mutation SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.188C>T p.Ala63Val p.A63V ENST00000298281 1/16 NA NA NA NA NA NA PCF11,missense_variant,p.Ala63Val,ENST00000298281,NM_001346413.2,NM_001346414.2,NM_015885.4,NM_001346415.2;PCF11,missense_variant,p.Ala63Val,ENST00000530660,;PCF11,missense_variant,p.Ala63Val,ENST00000530304,;PCF11,missense_variant,p.Ala63Val,ENST00000533018,;PCF11,non_coding_transcript_exon_variant,,ENST00000624931,;,regulatory_region_variant,,ENSR00000042784,;,TF_binding_site_variant,,ENSM00522298442,; T ENSG00000165494 ENST00000298281 Transcript missense_variant 640/7677 188/4668 63/1555 A/V gCc/gTc 1 NA 1 PCF11 HGNC HGNC:30097 protein_coding YES CCDS44689.1 ENSP00000298281 O94913.156 UPI00001BB2B7 NM_001346413.2,NM_001346414.2,NM_015885.4,NM_001346415.2 deleterious(0.01) possibly_damaging(0.629) 1/16 PROSITE_profiles:PS51391,CDD:cd16982,PANTHER:PTHR15921,PANTHER:PTHR15921:SF3,Gene3D:1.25.40.90,Pfam:PF04818,SMART:SM00582,Superfamily:SSF48464 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . GCC . 1221.6 NA NA NA NA NA NA NA NA NA 83157627 TRIM64B 646754 . GRCh38 chr11 89874049 89874049 + Splice_Region SNP C C T rs780093433 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.735G>A p.Gln245= p.Q245= ENST00000329862 3/6 NA NA NA NA NA NA TRIM64B,splice_region_variant,p.Gln245=,ENST00000329862,NM_001164397.2; T ENSG00000189253 ENST00000329862 Transcript splice_region_variant,synonymous_variant 735/2689 735/1350 245/449 Q caG/caA rs780093433 1 NA -1 TRIM64B HGNC HGNC:37147 protein_coding YES CCDS53693.1 ENSP00000332969 A6NI03.101 UPI0001662600 NM_001164397.2 3/6 PANTHER:PTHR24103:SF600,PANTHER:PTHR24103 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . CCT . 1691.6 6.337e-06 NA NA NA NA NA NA NA 4.392e-05 89874049 FAT3 120114 . GRCh38 chr11 92354676 92354676 + Missense_Mutation SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2564C>T p.Ala855Val p.A855V ENST00000409404 1/25 NA NA NA NA NA NA FAT3,missense_variant,p.Ala855Val,ENST00000409404,NM_001008781.3;FAT3,missense_variant,p.Ala705Val,ENST00000525166,NM_001367949.2;FAT3,upstream_gene_variant,,ENST00000528921,; T ENSG00000165323 ENST00000409404 Transcript missense_variant 2581/19030 2564/13674 855/4557 A/V gCc/gTc 1 NA 1 FAT3 HGNC HGNC:23112 protein_coding YES ENSP00000387040 Q8TDW7.142 UPI000050B6C7 NM_001008781.3 tolerated(0.07) probably_damaging(0.999) 1/25 CDD:cd11304,Gene3D:2.60.40.60,Pfam:PF00028,SMART:SM00112,Superfamily:SSF49313,PROSITE_profiles:PS50268,PANTHER:PTHR24026,PANTHER:PTHR24026:SF49 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA 1 . GCC . 4155.6 NA NA NA NA NA NA NA NA NA 92354676 SESN3 143686 . GRCh38 chr11 95175641 95175646 + Splice_Site DEL ACCTAC ACCTAC - novel NA HCI-EC-23 NORMAL ACCTAC ACCTAC NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1248-4_1249del p.X416_splice ENST00000536441 9/10 NA NA NA NA NA NA SESN3,splice_acceptor_variant,,ENST00000536441,NM_144665.4;SESN3,splice_acceptor_variant,,ENST00000278499,NM_001271594.2;AP000787.1,intron_variant,,ENST00000534864,;AP000787.1,intron_variant,,ENST00000534891,;AP000787.1,intron_variant,,ENST00000657854,;AP000787.1,intron_variant,,ENST00000663579,;AP000787.1,intron_variant,,ENST00000665652,;AP000787.1,intron_variant,,ENST00000670623,; - ENSG00000149212 ENST00000536441 Transcript splice_acceptor_variant,coding_sequence_variant,intron_variant ?-1591/9563 ?-1249/1479 ?-417/492 1 NA -1 SESN3 HGNC HGNC:23060 protein_coding YES CCDS8303.1 ENSP00000441927 P58005.142 UPI0000135891 NM_144665.4 9/10 8/9 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 2 NA NA NA . ATACCTACG . 2509.6 NA NA NA NA NA NA NA NA NA 95175640 CNTN5 53942 . GRCh38 chr11 99819752 99819753 + Nonsense_Mutation INS - - AACTGAGGAACCAGGCATTATTTTGTCGATAGATCCAAAATTGACAAAGGTAGACAACATCTAGAAAATGTTA novel NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.264_265insAACTGAGGAACCAGGCATTATTTTGTCGATAGATCCAAAATTGACAAAGGTAGACAACATCTAGAAAATGTTA p.Phe89AsnfsTer2 p.F89Nfs*2 ENST00000524871 4/25 NA NA NA NA NA NA CNTN5,stop_gained,p.Phe89AsnfsTer2,ENST00000524871,NM_014361.4,NM_001243270.2;CNTN5,stop_gained,p.Phe73AsnfsTer2,ENST00000279463,;CNTN5,stop_gained,p.Phe89AsnfsTer2,ENST00000527185,NM_001243271.2;CNTN5,stop_gained,p.Phe89AsnfsTer2,ENST00000528682,;CNTN5,intron_variant,,ENST00000418526,NM_175566.2;CNTN5,non_coding_transcript_exon_variant,,ENST00000528727,; AACTGAGGAACCAGGCATTATTTTGTCGATAGATCCAAAATTGACAAAGGTAGACAACATCTAGAAAATGTTA ENSG00000149972 ENST00000524871 Transcript stop_gained,frameshift_variant 795-796/6499 264-265/3303 88-89/1100 -/N*GTRHYFVDRSKIDKGRQHLENVX -/AACTGAGGAACCAGGCATTATTTTGTCGATAGATCCAAAATTGACAAAGGTAGACAACATCTAGAAAATGTTA 1 NA 1 CNTN5 HGNC HGNC:2175 protein_coding YES CCDS53696.1 ENSP00000435637 O94779.152 UPI000006DAB0 NM_014361.4,NM_001243270.2 4/25 PANTHER:PTHR44170,PANTHER:PTHR44170:SF17 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 insertion 1 NA NA NA . CCT . 433.64 NA NA NA NA NA NA NA NA NA 99819752 ARHGAP42 143872 . GRCh38 chr11 100976871 100976871 + Missense_Mutation SNP A A C novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2293A>C p.Thr765Pro p.T765P ENST00000298815 21/24 NA NA NA NA NA NA ARHGAP42,missense_variant,p.Thr765Pro,ENST00000298815,NM_001367945.1,NM_152432.4;ARHGAP42,missense_variant,p.Thr731Pro,ENST00000524892,;ARHGAP42,missense_variant,p.Thr389Pro,ENST00000529535,; C ENSG00000165895 ENST00000298815 Transcript missense_variant 2684/8156 2293/2625 765/874 T/P Aca/Cca 1 NA 1 ARHGAP42 HGNC HGNC:26545 protein_coding YES ENSP00000298815 A6NI28.113 UPI00005778C9 NM_001367945.1,NM_152432.4 tolerated(0.08) benign(0.02) 21/24 MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite,PANTHER:PTHR12552,PANTHER:PTHR12552:SF3 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . GAC . 400.6 NA NA NA NA NA NA NA NA NA 100976871 DCUN1D5 84259 . GRCh38 chr11 103066502 103066502 + Missense_Mutation SNP G G A rs774048924 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.407C>T p.Ser136Leu p.S136L ENST00000260247 5/8 NA NA NA NA NA NA DCUN1D5,missense_variant,p.Ser136Leu,ENST00000260247,NM_032299.4,NM_001318739.2;DCUN1D5,missense_variant,p.Ser51Leu,ENST00000531543,NM_001318740.2,NM_001318741.2;DCUN1D5,missense_variant,p.Ser108Leu,ENST00000527260,;DCUN1D5,3_prime_UTR_variant,,ENST00000531571,;DCUN1D5,3_prime_UTR_variant,,ENST00000529281,;DCUN1D5,3_prime_UTR_variant,,ENST00000527779,;DCUN1D5,3_prime_UTR_variant,,ENST00000527576,;DCUN1D5,3_prime_UTR_variant,,ENST00000529294,;DCUN1D5,3_prime_UTR_variant,,ENST00000525420,;DCUN1D5,3_prime_UTR_variant,,ENST00000583974,; A ENSG00000137692 ENST00000260247 Transcript missense_variant 695/12675 407/714 136/237 S/L tCg/tTg rs774048924,COSV52783895 1 NA -1 DCUN1D5 HGNC HGNC:28409 protein_coding YES CCDS8325.1 ENSP00000260247 Q9BTE7.132 A0A024R3A2.49 UPI000006DE72 NM_032299.4,NM_001318739.2 tolerated(0.67) benign(0.005) 5/8 Pfam:PF03556,Gene3D:1.10.238.200,PANTHER:PTHR12281,PANTHER:PTHR12281:SF6,PROSITE_profiles:PS51229 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 1 NA 0,1 NA NA . CGA . 1797.6 7.988e-06 NA NA NA NA NA 8.826e-06 NA 3.284e-05 103066502 DYNC2H1 79659 . GRCh38 chr11 103177792 103177792 + Silent SNP T T C rs749414223 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.6111T>C p.Ser2037= p.S2037= ENST00000650373 38/90 NA NA NA NA NA NA DYNC2H1,synonymous_variant,p.Ser2037=,ENST00000375735,NM_001377.3;DYNC2H1,synonymous_variant,p.Ser2037=,ENST00000650373,NM_001080463.2;DYNC2H1,intron_variant,,ENST00000334267,;DYNC2H1,3_prime_UTR_variant,,ENST00000649323,; C ENSG00000187240 ENST00000650373 Transcript synonymous_variant 6124/13330 6111/12945 2037/4314 S agT/agC rs749414223 1 NA 1 DYNC2H1 HGNC HGNC:2962 protein_coding YES CCDS44717.1 ENSP00000497174 Q8NCM8.147 UPI0000481AC7 NM_001080463.2 38/90 PANTHER:PTHR45703,PANTHER:PTHR45703:SF8,Gene3D:3.40.50.300,SMART:SM00382,Superfamily:SSF52540 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV NA NA NA 1 . GTG . 2029.6 5.662e-05 NA NA NA NA NA 0.0001246 NA NA 103177792 GRIA4 2893 . GRCh38 chr11 105753042 105753042 + Silent SNP A A G novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.309A>G p.Val103= p.V103= ENST00000282499 4/17 NA NA NA NA NA NA GRIA4,synonymous_variant,p.Val103=,ENST00000393127,NM_001077243.2;GRIA4,synonymous_variant,p.Val103=,ENST00000282499,NM_000829.4;GRIA4,synonymous_variant,p.Val103=,ENST00000530497,;GRIA4,synonymous_variant,p.Val103=,ENST00000393125,NM_001077244.2;GRIA4,synonymous_variant,p.Val103=,ENST00000525187,;GRIA4,synonymous_variant,p.Val103=,ENST00000428631,NM_001112812.2;GRIA4,synonymous_variant,p.Val103=,ENST00000531011,;GRIA4,non_coding_transcript_exon_variant,,ENST00000525032,; G ENSG00000152578 ENST00000282499 Transcript synonymous_variant 755/5506 309/2709 103/902 V gtA/gtG 1 NA 1 GRIA4 HGNC HGNC:4574 protein_coding YES CCDS8333.1 ENSP00000282499 P48058.181 UPI000013DCE6 NM_000829.4 4/17 CDD:cd06388,PANTHER:PTHR18966:SF100,PANTHER:PTHR18966,Pfam:PF01094,Gene3D:3.40.50.2300,Superfamily:SSF53822 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA 1 . TAC . 1851.6 NA NA NA NA NA NA NA NA NA 105753042 CWF19L2 143884 . GRCh38 chr11 107454502 107454502 + Frame_Shift_Del DEL T T - rs772257590 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.287del p.Lys96ArgfsTer41 p.K96Rfs*41 ENST00000282251 3/18 NA NA NA NA NA NA CWF19L2,frameshift_variant,p.Lys96ArgfsTer41,ENST00000282251,NM_152434.2; - ENSG00000152404 ENST00000282251 Transcript frameshift_variant 315/3278 287/2685 96/894 K/X aAg/ag rs772257590 1 NA -1 CWF19L2 HGNC HGNC:26508 protein_coding YES CCDS8336.2 ENSP00000282251 Q2TBE0.121 UPI00005A81B4 NM_152434.2 3/18 PDB-ENSP_mappings:6id0.U,PDB-ENSP_mappings:6id1.U,Low_complexity_(Seg):seg,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite,PANTHER:PTHR12072,PANTHER:PTHR12072:SF5 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 NA NA NA . TCTT . 35.6 7.8e-05 NA 0.0003499 NA NA NA 4.759e-05 NA 0.0001339 107454501 CUL5 8065 . GRCh38 chr11 108094931 108094931 + Frame_Shift_Del DEL A A - novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1694del p.Asn565IlefsTer18 p.N565Ifs*18 ENST00000393094 15/19 NA NA NA NA NA NA CUL5,frameshift_variant,p.Asn565IlefsTer18,ENST00000393094,NM_003478.6;CUL5,frameshift_variant,p.Asn565IlefsTer18,ENST00000531427,; - ENSG00000166266 ENST00000393094 Transcript frameshift_variant 2138/6171 1687/2343 563/780 K/X Aaa/aa 1 NA 1 CUL5 HGNC HGNC:2556 protein_coding YES CCDS31668.1 ENSP00000376808 Q93034.185 UPI00001380B0 NM_003478.6 15/19 PDB-ENSP_mappings:3dpl.C,PDB-ENSP_mappings:3dqv.C,PDB-ENSP_mappings:3dqv.D,PDB-ENSP_mappings:6v9i.C,PROSITE_profiles:PS50069,PANTHER:PTHR11932:SF76,PANTHER:PTHR11932,Gene3D:1.10.10.2620,Pfam:PF00888,SMART:SM00182,Superfamily:SSF75632 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 7 NA NA . ACAA . 1071.6 NA NA NA NA NA NA NA NA NA 108094930 ATM 472 . GRCh38 chr11 108330378 108330378 + Missense_Mutation SNP G G T NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.7472G>T p.Trp2491Leu p.W2491L ENST00000278616 50/63 NA NA NA NA NA NA ATM,missense_variant,p.Trp2491Leu,ENST00000278616,;ATM,missense_variant,p.Trp2491Leu,ENST00000452508,NM_001351834.2;ATM,missense_variant,p.Trp2491Leu,ENST00000675843,NM_000051.4;C11orf65,intron_variant,,ENST00000525729,NM_001330368.2;C11orf65,downstream_gene_variant,,ENST00000524755,;C11orf65,downstream_gene_variant,,ENST00000615746,;ATM,upstream_gene_variant,,ENST00000533979,;ATM,3_prime_UTR_variant,,ENST00000675595,;ATM,3_prime_UTR_variant,,ENST00000527805,;ATM,non_coding_transcript_exon_variant,,ENST00000524792,;ATM,non_coding_transcript_exon_variant,,ENST00000533690,;ATM,upstream_gene_variant,,ENST00000525056,;ATM,downstream_gene_variant,,ENST00000525537,;ATM,downstream_gene_variant,,ENST00000527389,;C11orf65,downstream_gene_variant,,ENST00000527531,; T ENSG00000149311 ENST00000278616 Transcript missense_variant 7857/13147 7472/9171 2491/3056 W/L tGg/tTg COSV53734614,COSV53735811 1 NA 1 ATM HGNC HGNC:795 protein_coding YES CCDS31669.1 ENSP00000278616 Q13315.241 A0A024R3C7.58 UPI000016B511 deleterious(0) possibly_damaging(0.899) 50/63 PDB-ENSP_mappings:5np0.A,PDB-ENSP_mappings:5np0.B,PDB-ENSP_mappings:5np1.A,PDB-ENSP_mappings:6k9k.A,PDB-ENSP_mappings:6k9l.A,PDB-ENSP_mappings:6k9l.B,PROSITE_profiles:PS51189,PANTHER:PTHR11139,PANTHER:PTHR11139:SF72,Superfamily:SSF48371 NA NA NA NA NA NA NA NA NA 1,1 NA NA NA NA MODERATE NA SNV 5 NA 1,1 NA 1 . TGG . 2688.6 NA NA NA NA NA NA NA NA NA 108330378 C11orf87 399947 . GRCh38 chr11 109423841 109423841 + Missense_Mutation SNP C C A novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.208C>A p.Leu70Ile p.L70I ENST00000327419 2/2 NA NA NA NA NA NA C11orf87,missense_variant,p.Leu70Ile,ENST00000327419,NM_207645.4;AP003049.2,intron_variant,,ENST00000532929,;AP003049.2,intron_variant,,ENST00000532992,;,regulatory_region_variant,,ENSR00000441815,; A ENSG00000185742 ENST00000327419 Transcript missense_variant 541/5867 208/594 70/197 L/I Ctc/Atc 1 NA 1 C11orf87 HGNC HGNC:33788 protein_coding YES CCDS31672.1 ENSP00000331581 Q6NUJ2.104 A0A158RFU1.19 UPI000013E5BC NM_207645.4 deleterious(0.05) benign(0.135) 2/2 Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PANTHER:PTHR31870 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CCT . 2572.6 NA NA NA NA NA NA NA NA NA 109423841 ARHGAP20 57569 . GRCh38 chr11 110592099 110592099 + Nonsense_Mutation SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1021C>T p.Arg341Ter p.R341* ENST00000260283 11/16 NA NA NA NA NA NA ARHGAP20,stop_gained,p.Arg341Ter,ENST00000260283,NM_020809.3;ARHGAP20,stop_gained,p.Arg318Ter,ENST00000524756,NM_001258415.2;ARHGAP20,stop_gained,p.Arg315Ter,ENST00000533353,NM_001258416.1;ARHGAP20,stop_gained,p.Arg305Ter,ENST00000527598,NM_001258418.1;ARHGAP20,stop_gained,p.Arg305Ter,ENST00000528829,NM_001258417.1;ARHGAP20,upstream_gene_variant,,ENST00000529591,; A ENSG00000137727 ENST00000260283 Transcript stop_gained 1306/6189 1021/3576 341/1191 R/* Cga/Tga 1 NA -1 ARHGAP20 HGNC HGNC:18357 protein_coding YES CCDS31673.1 ENSP00000260283 Q9P2F6.140 UPI000013D0BA NM_020809.3 11/16 PANTHER:PTHR23179,PANTHER:PTHR23179:SF28 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 SNV 1 NA NA NA . CGC . 1113.6 NA NA NA NA NA NA NA NA NA 110592099 SIK2 23235 . GRCh38 chr11 111616260 111616260 + Silent SNP C C T rs147962481 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.153C>T p.Ile51= p.I51= ENST00000304987 2/15 NA NA NA NA NA NA SIK2,synonymous_variant,p.Ile51=,ENST00000304987,NM_015191.3; T ENSG00000170145 ENST00000304987 Transcript synonymous_variant 268/9622 153/2781 51/926 I atC/atT rs147962481,COSV100515919 1 NA 1 SIK2 HGNC HGNC:21680 protein_coding YES CCDS8347.1 ENSP00000305976 Q9H0K1.173 A0A024R3G7.41 UPI000006F406 NM_015191.3 2/15 PROSITE_profiles:PS50011,CDD:cd14071,PANTHER:PTHR24346,PANTHER:PTHR24346:SF38,PIRSF:PIRSF037014,Pfam:PF00069,Gene3D:1.10.510.10,SMART:SM00220,Superfamily:SSF56112 NA NA NA NA NA NA NA 0.0004543 NA 0,1 NA NA NA NA LOW 1 SNV 1 NA 0,1 NA NA . TCG . 1242.6 7.974e-06 6.159e-05 NA NA NA NA 8.819e-06 NA NA 111616260 BCO2 83875 . GRCh38 chr11 112202164 112202164 + Silent SNP A A C novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1168A>C p.Arg390= p.R390= ENST00000357685 8/12 NA NA NA NA NA NA BCO2,synonymous_variant,p.Arg390=,ENST00000357685,NM_031938.7;BCO2,synonymous_variant,p.Arg356=,ENST00000438022,NM_001037290.3;BCO2,synonymous_variant,p.Arg356=,ENST00000531169,;BCO2,synonymous_variant,p.Arg356=,ENST00000526088,NM_001256397.2;BCO2,synonymous_variant,p.Arg317=,ENST00000361053,NM_001256398.2;BCO2,synonymous_variant,p.Arg285=,ENST00000532593,NM_001256400.2;BCO2,synonymous_variant,p.Arg158=,ENST00000530677,;BCO2,downstream_gene_variant,,ENST00000532612,;BCO2,non_coding_transcript_exon_variant,,ENST00000460924,;BCO2,non_coding_transcript_exon_variant,,ENST00000494860,;BCO2,non_coding_transcript_exon_variant,,ENST00000527198,;BCO2,downstream_gene_variant,,ENST00000527939,;BCO2,downstream_gene_variant,,ENST00000534550,; C ENSG00000197580 ENST00000357685 Transcript synonymous_variant 1258/2902 1168/1740 390/579 R Agg/Cgg 1 NA 1 BCO2 HGNC HGNC:18503 protein_coding YES CCDS8358.2 ENSP00000350314 Q9BYV7.151 UPI00005FB124 NM_031938.7 8/12 PANTHER:PTHR10543,PANTHER:PTHR10543:SF85,Pfam:PF03055 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . CAG . 152.6 NA NA NA NA NA NA NA NA NA 112202164 SIK3 23387 . GRCh38 chr11 116861302 116861302 + Frame_Shift_Del DEL G G - novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2377del p.Met794Ter p.M794* ENST00000445177 19/25 NA NA NA NA NA NA SIK3,frameshift_variant,p.Met794Ter,ENST00000445177,NM_001366686.2;SIK3,frameshift_variant,p.Met752Ter,ENST00000375300,NM_025164.6,NM_001281748.3;SIK3,frameshift_variant,p.Met752Ter,ENST00000446921,NM_001281749.3;SIK3,intron_variant,,ENST00000488337,;SIK3,3_prime_UTR_variant,,ENST00000415541,;SIK3,non_coding_transcript_exon_variant,,ENST00000465421,;SIK3,non_coding_transcript_exon_variant,,ENST00000480468,;,regulatory_region_variant,,ENSR00000961976,; - ENSG00000160584 ENST00000445177 Transcript frameshift_variant 2377/6331 2379/4092 793/1363 P/X ccC/cc 1 NA -1 SIK3 HGNC HGNC:29165 protein_coding YES ENSP00000391295 H0Y4E8.63 UPI000066D910 NM_001366686.2 19/25 Low_complexity_(Seg):seg,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite,PANTHER:PTHR24346,PANTHER:PTHR24346:SF42 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 5 NA NA 1 . ATGG . 3350.6 NA NA NA NA NA NA NA NA NA 116861301 C2CD2L 9854 . GRCh38 chr11 119116095 119116095 + Nonsense_Mutation SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1963C>T p.Gln655Ter p.Q655* ENST00000336702 14/14 NA NA NA NA NA NA C2CD2L,stop_gained,p.Gln654Ter,ENST00000648610,NM_001382613.1,NM_001290474.2,NM_001382611.1;C2CD2L,stop_gained,p.Gln655Ter,ENST00000336702,NM_001382612.1,NM_014807.5;C2CD2L,3_prime_UTR_variant,,ENST00000528586,;C2CD2L,non_coding_transcript_exon_variant,,ENST00000525598,;C2CD2L,downstream_gene_variant,,ENST00000529874,;C2CD2L,downstream_gene_variant,,ENST00000533458,; T ENSG00000172375 ENST00000336702 Transcript stop_gained 2322/4771 1963/2124 655/707 Q/* Cag/Tag 1 NA 1 C2CD2L HGNC HGNC:29000 protein_coding YES CCDS8413.1 ENSP00000338885 O14523.149 UPI0000192105 NM_001382612.1,NM_014807.5 14/14 PANTHER:PTHR21119,PANTHER:PTHR21119:SF8,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 SNV 1 NA NA NA . GCA . 3498.6 NA NA NA NA NA NA NA NA NA 119116095 NLRX1 79671 . GRCh38 chr11 119182318 119182318 + Missense_Mutation SNP G G A rs199476053 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2579G>A p.Arg860Gln p.R860Q ENST00000409109 9/10 NA NA NA NA NA NA NLRX1,missense_variant,p.Arg860Gln,ENST00000409109,NM_001282144.2;NLRX1,missense_variant,p.Arg860Gln,ENST00000292199,NM_024618.4;NLRX1,missense_variant,p.Arg860Gln,ENST00000409991,NM_001282143.2;NLRX1,missense_variant,p.Arg860Gln,ENST00000409265,NM_001282358.1;NLRX1,missense_variant,p.Arg860Gln,ENST00000525863,;PDZD3,upstream_gene_variant,,ENST00000322712,NM_024791.4;PDZD3,upstream_gene_variant,,ENST00000355547,NM_001168468.2;PDZD3,upstream_gene_variant,,ENST00000525131,;PDZD3,upstream_gene_variant,,ENST00000531114,;NLRX1,downstream_gene_variant,,ENST00000469103,;NLRX1,downstream_gene_variant,,ENST00000481860,;PDZD3,upstream_gene_variant,,ENST00000526279,;PDZD3,upstream_gene_variant,,ENST00000526836,;PDZD3,upstream_gene_variant,,ENST00000527028,;PDZD3,upstream_gene_variant,,ENST00000527308,;PDZD3,upstream_gene_variant,,ENST00000527951,;PDZD3,upstream_gene_variant,,ENST00000528730,;PDZD3,upstream_gene_variant,,ENST00000529098,;PDZD3,upstream_gene_variant,,ENST00000529573,;PDZD3,upstream_gene_variant,,ENST00000533688,;PDZD3,upstream_gene_variant,,ENST00000534790,;,regulatory_region_variant,,ENSR00000962241,; A ENSG00000160703 ENST00000409109 Transcript missense_variant 3205/4131 2579/2928 860/975 R/Q cGg/cAg rs199476053 1 NA 1 NLRX1 HGNC HGNC:29890 protein_coding YES CCDS8416.1 ENSP00000387334 Q86UT6.150 UPI0000161217 NM_001282144.2 tolerated(0.06) benign(0.14) 9/10 Gene3D:3.80.10.10,PDB-ENSP_mappings:3un9.A,PDB-ENSP_mappings:3un9.B,PDB-ENSP_mappings:3un9.C,PANTHER:PTHR24114,PANTHER:PTHR24114:SF31,SMART:SM00368,Superfamily:SSF52047,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA 0.0001164 not_provided NA NA NA NA MODERATE 1 SNV 1 NA 1 NA NA . CGG . 3693.6 0.0001532 NA 0.0002894 NA NA NA 0.0002511 NA NA 119182318 TECTA 7007 . GRCh38 chr11 121189790 121189790 + Missense_Mutation SNP G G T NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.6277G>T p.Gly2093Trp p.G2093W ENST00000392793 23/24 NA NA NA NA NA NA TECTA,missense_variant,p.Gly2093Trp,ENST00000392793,NM_005422.4;TECTA,missense_variant,p.Gly2088Trp,ENST00000642222,NM_001378761.1;TECTA,missense_variant,p.Gly2093Trp,ENST00000264037,;TECTA,missense_variant,p.Gly1191Trp,ENST00000645008,;TECTA,non_coding_transcript_exon_variant,,ENST00000646278,; T ENSG00000109927 ENST00000392793 Transcript missense_variant 6478/7353 6277/6468 2093/2155 G/W Ggg/Tgg COSV99081214 1 NA 1 TECTA HGNC HGNC:11720 protein_coding YES CCDS8434.1 ENSP00000376543 O75443.172 UPI000045659D NM_005422.4 deleterious_low_confidence(0) probably_damaging(1) 23/24 Gene3D:2.10.25.10,PANTHER:PTHR46160,PANTHER:PTHR46160:SF3,SMART:SM00181 NA NA NA NA NA NA NA NA NA 1 NA NA NA NA MODERATE 1 SNV 5 NA 1 NA 1 . AGG . 2382.6 NA NA NA NA NA NA NA NA NA 121189790 HSPA8 85390 . GRCh38 chr11 123059708 123059708 + Silent SNP G G A rs1432003634 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.885C>T p.Thr295= p.T295= ENST00000532636 5/9 NA NA NA NA NA NA HSPA8,synonymous_variant,p.Thr295=,ENST00000532636,;HSPA8,synonymous_variant,p.Thr295=,ENST00000534624,NM_006597.6;HSPA8,synonymous_variant,p.Thr295=,ENST00000227378,;HSPA8,synonymous_variant,p.Thr295=,ENST00000453788,NM_153201.4;HSPA8,synonymous_variant,p.Thr276=,ENST00000526110,;HSPA8,synonymous_variant,p.Thr59=,ENST00000534319,;HSPA8,synonymous_variant,p.Thr149=,ENST00000533540,;HSPA8,synonymous_variant,p.Thr235=,ENST00000528292,;HSPA8,upstream_gene_variant,,ENST00000524552,;HSPA8,downstream_gene_variant,,ENST00000524590,;HSPA8,downstream_gene_variant,,ENST00000525463,;HSPA8,downstream_gene_variant,,ENST00000525624,;HSPA8,upstream_gene_variant,,ENST00000526686,;HSPA8,downstream_gene_variant,,ENST00000527387,;HSPA8,downstream_gene_variant,,ENST00000530391,;HSPA8,downstream_gene_variant,,ENST00000532182,;HSPA8,downstream_gene_variant,,ENST00000534567,;SNORD14E,upstream_gene_variant,,ENST00000364009,;SNORD14C,upstream_gene_variant,,ENST00000365382,;SNORD14D,upstream_gene_variant,,ENST00000384390,;AP000926.2,upstream_gene_variant,,ENST00000660892,;HSPA8,non_coding_transcript_exon_variant,,ENST00000526862,;HSPA8,intron_variant,,ENST00000533238,;HSPA8,non_coding_transcript_exon_variant,,ENST00000532091,;HSPA8,non_coding_transcript_exon_variant,,ENST00000527983,;HSPA8,downstream_gene_variant,,ENST00000531063,;HSPA8,downstream_gene_variant,,ENST00000532167,;HSPA8,downstream_gene_variant,,ENST00000532780,;,regulatory_region_variant,,ENSR00000046283,;,TF_binding_site_variant,,ENSM00524448857,; A ENSG00000109971 ENST00000532636 Transcript synonymous_variant 1005/2306 885/1941 295/646 T acC/acT rs1432003634 1 NA -1 HSPA8 HGNC HGNC:5241 protein_coding YES CCDS8440.1 ENSP00000437125 P11142.241 V9HW22.62 UPI0000000801 5/9 Gene3D:3.30.420.40,Gene3D:3.30.420.40,Gene3D:3.90.640.10,PDB-ENSP_mappings:3fzf.A,PDB-ENSP_mappings:3fzh.A,PDB-ENSP_mappings:3fzk.A,PDB-ENSP_mappings:3fzl.A,PDB-ENSP_mappings:3fzm.A,PDB-ENSP_mappings:3ldq.A,PDB-ENSP_mappings:3m3z.A,PDB-ENSP_mappings:4h5n.A,PDB-ENSP_mappings:4h5n.B,PDB-ENSP_mappings:4h5r.A,PDB-ENSP_mappings:4h5r.B,PDB-ENSP_mappings:4h5t.A,PDB-ENSP_mappings:4h5v.A,PDB-ENSP_mappings:4h5w.A,PDB-ENSP_mappings:4h5w.B,PDB-ENSP_mappings:4hwi.A,PDB-ENSP_mappings:5aqf.A,PDB-ENSP_mappings:5aqf.C,PDB-ENSP_mappings:5aqg.A,PDB-ENSP_mappings:5aqg.C,PDB-ENSP_mappings:5aqg.E,PDB-ENSP_mappings:5aqh.A,PDB-ENSP_mappings:5aqi.A,PDB-ENSP_mappings:5aqi.C,PDB-ENSP_mappings:5aqj.A,PDB-ENSP_mappings:5aqj.C,PDB-ENSP_mappings:5aqj.E,PDB-ENSP_mappings:5aqk.A,PDB-ENSP_mappings:5aql.A,PDB-ENSP_mappings:5aql.C,PDB-ENSP_mappings:5aqm.A,PDB-ENSP_mappings:5aqm.C,PDB-ENSP_mappings:5aqn.A,PDB-ENSP_mappings:5aqn.C,PDB-ENSP_mappings:5aqn.E,PDB-ENSP_mappings:5aqo.A,PDB-ENSP_mappings:5aqo.C,PDB-ENSP_mappings:5aqo.E,PDB-ENSP_mappings:5aqp.A,PDB-ENSP_mappings:5aqp.C,PDB-ENSP_mappings:5aqp.E,PDB-ENSP_mappings:5aqq.A,PDB-ENSP_mappings:5aqq.C,PDB-ENSP_mappings:5aqq.E,PDB-ENSP_mappings:5aqr.A,PDB-ENSP_mappings:5aqr.C,PDB-ENSP_mappings:5aqr.E,PDB-ENSP_mappings:5aqs.A,PDB-ENSP_mappings:5aqs.C,PDB-ENSP_mappings:5aqt.A,PDB-ENSP_mappings:5aqu.A,PDB-ENSP_mappings:5aqv.A,PDB-ENSP_mappings:6b1i.A,PDB-ENSP_mappings:6b1i.B,PDB-ENSP_mappings:6b1m.A,PDB-ENSP_mappings:6b1m.B,PDB-ENSP_mappings:6b1n.A,PDB-ENSP_mappings:6b1n.B,Pfam:PF00012,PANTHER:PTHR19375,PANTHER:PTHR19375:SF407,Superfamily:SSF53067,CDD:cd10233 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . AGG . 1902.6 7.961e-06 NA NA NA NA NA 1.761e-05 NA NA 123059708 GRAMD1B 57476 . GRCh38 chr11 123577371 123577371 + Missense_Mutation SNP G G A rs1359906796 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.457G>A p.Ala153Thr p.A153T ENST00000635736 3/20 NA NA NA NA NA NA GRAMD1B,missense_variant,p.Ala10Thr,ENST00000529750,NM_020716.3;GRAMD1B,missense_variant,p.Ala153Thr,ENST00000635736,NM_001367418.1,NM_001367421.2;GRAMD1B,missense_variant,p.Ala10Thr,ENST00000456860,NM_001286563.2;GRAMD1B,missense_variant,p.Ala39Thr,ENST00000638086,;GRAMD1B,missense_variant,p.Ala10Thr,ENST00000322282,;GRAMD1B,missense_variant,p.Ala6Thr,ENST00000534764,;GRAMD1B,missense_variant,p.Ala33Thr,ENST00000633087,;GRAMD1B,5_prime_UTR_variant,,ENST00000529432,NM_001367420.1,NM_001367419.1,NM_001286564.2;GRAMD1B,5_prime_UTR_variant,,ENST00000638157,NM_001330396.2;GRAMD1B,5_prime_UTR_variant,,ENST00000633646,;GRAMD1B,5_prime_UTR_variant,,ENST00000632815,;GRAMD1B,non_coding_transcript_exon_variant,,ENST00000532581,;,regulatory_region_variant,,ENSR00000266342,; A ENSG00000023171 ENST00000635736 Transcript missense_variant 556/2814 457/2634 153/877 A/T Gcc/Acc rs1359906796 1 NA 1 GRAMD1B HGNC HGNC:29214 protein_coding YES ENSP00000490062 A0A1B0GUD6.29 UPI0003EAFB61 NM_001367418.1,NM_001367421.2 tolerated(0.23) probably_damaging(0.998) 3/20 PANTHER:PTHR23319,PANTHER:PTHR23319:SF3,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . TGC . 1999.6 NA NA NA NA NA NA NA NA NA 123577371 GRAMD1B 57476 . GRCh38 chr11 123606689 123606689 + Frame_Shift_Del DEL G G - novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1408del p.Glu470ArgfsTer5 p.E470Rfs*5 ENST00000635736 11/20 NA NA NA NA NA NA GRAMD1B,frameshift_variant,p.Glu327ArgfsTer5,ENST00000529750,NM_020716.3;GRAMD1B,frameshift_variant,p.Glu291ArgfsTer5,ENST00000646146,;GRAMD1B,frameshift_variant,p.Glu287ArgfsTer5,ENST00000529432,NM_001367420.1,NM_001367419.1,NM_001286564.2;GRAMD1B,frameshift_variant,p.Glu287ArgfsTer5,ENST00000638157,NM_001330396.2;GRAMD1B,frameshift_variant,p.Glu470ArgfsTer5,ENST00000635736,NM_001367418.1,NM_001367421.2;GRAMD1B,frameshift_variant,p.Glu334ArgfsTer5,ENST00000456860,NM_001286563.2;GRAMD1B,frameshift_variant,p.Glu356ArgfsTer5,ENST00000638086,;GRAMD1B,frameshift_variant,p.Glu327ArgfsTer5,ENST00000322282,;GRAMD1B,frameshift_variant,p.Glu323ArgfsTer5,ENST00000534764,;GRAMD1B,upstream_gene_variant,,ENST00000450171,;GRAMD1B,non_coding_transcript_exon_variant,,ENST00000532581,; - ENSG00000023171 ENST00000635736 Transcript frameshift_variant 1503/2814 1404/2634 468/877 M/X atG/at 1 NA 1 GRAMD1B HGNC HGNC:29214 protein_coding YES ENSP00000490062 A0A1B0GUD6.29 UPI0003EAFB61 NM_001367418.1,NM_001367421.2 11/20 PANTHER:PTHR23319,PANTHER:PTHR23319:SF3 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 5 4 NA NA . ATGG . 5247.6 NA NA NA NA NA NA NA NA NA 123606688 OR8G2P 0 . GRCh38 chr11 124224931 124224931 + Missense_Mutation SNP C C T rs1205611086 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.200C>T p.Ser67Phe p.S67F ENST00000412796 1/1 NA NA NA NA NA NA ,regulatory_region_variant,,ENSR00000445399,;OR8G2P,missense_variant,p.Ser67Phe,ENST00000412796,NM_001291438.1;,TF_binding_site_variant,,ENSM00526128166,;,TF_binding_site_variant,,ENSM00022401114,; T ENSG00000181214 ENST00000412796 Transcript missense_variant 200/935 200/935 67/311 S/F tCc/tTc rs1205611086 1 NA 1 OR8G2P HGNC HGNC:8485 polymorphic_pseudogene YES ENSP00000502842 NM_001291438.1 deleterious_low_confidence(0) probably_damaging(0.916) 1/1 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV NA NA NA NA . TCC . 32.6 NA NA NA NA NA NA NA NA NA 124224931 OR8G2P 0 . GRCh38 chr11 124224957 124224957 + Missense_Mutation SNP A A G rs749429112 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.226A>G p.Ile76Val p.I76V ENST00000412796 1/1 NA NA NA NA NA NA ,regulatory_region_variant,,ENSR00000445399,;OR8G2P,missense_variant,p.Ile76Val,ENST00000412796,NM_001291438.1;,TF_binding_site_variant,,ENSM00022438183,;,TF_binding_site_variant,,ENSM00525863328,;,TF_binding_site_variant,,ENSM00522244361,;,TF_binding_site_variant,,ENSM00524869400,;,TF_binding_site_variant,,ENSM00525165140,; G ENSG00000181214 ENST00000412796 Transcript missense_variant 226/935 226/935 76/311 I/V Atc/Gtc rs749429112 1 NA 1 OR8G2P HGNC HGNC:8485 polymorphic_pseudogene YES ENSP00000502842 NM_001291438.1 tolerated_low_confidence(1) benign(0) 1/1 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV NA NA NA NA . TAT . 162.6 2.799e-05 NA NA NA NA NA 4.415e-05 0.0001647 3.266e-05 124224957 OR8G2P 0 . GRCh38 chr11 124224960 124224960 + Missense_Mutation SNP A A T rs1433299511 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.229A>T p.Ile77Phe p.I77F ENST00000412796 1/1 NA NA NA NA NA NA ,regulatory_region_variant,,ENSR00000445399,;OR8G2P,missense_variant,p.Ile77Phe,ENST00000412796,NM_001291438.1;,TF_binding_site_variant,,ENSM00022438183,;,TF_binding_site_variant,,ENSM00525863328,;,TF_binding_site_variant,,ENSM00522244361,;,TF_binding_site_variant,,ENSM00524869400,;,TF_binding_site_variant,,ENSM00525165140,;,TF_binding_site_variant,,ENSM00021649918,; T ENSG00000181214 ENST00000412796 Transcript missense_variant 229/935 229/935 77/311 I/F Att/Ttt rs1433299511 1 NA 1 OR8G2P HGNC HGNC:8485 polymorphic_pseudogene YES ENSP00000502842 NM_001291438.1 tolerated_low_confidence(0.12) benign(0.041) 1/1 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV NA NA NA NA . CAT . 159.6 NA NA NA NA NA NA NA NA NA 124224960 FOXRED1 55572 . GRCh38 chr11 126276171 126276171 + Missense_Mutation SNP C C T rs775406644 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.923C>T p.Pro308Leu p.P308L ENST00000263578 8/11 NA NA NA NA NA NA FOXRED1,missense_variant,p.Pro308Leu,ENST00000263578,NM_017547.4;FOXRED1,missense_variant,p.Pro294Leu,ENST00000532125,;FOXRED1,non_coding_transcript_exon_variant,,ENST00000534011,;FOXRED1,non_coding_transcript_exon_variant,,ENST00000533839,;FOXRED1,downstream_gene_variant,,ENST00000526366,;FOXRED1,3_prime_UTR_variant,,ENST00000527004,;FOXRED1,3_prime_UTR_variant,,ENST00000525770,;FOXRED1,non_coding_transcript_exon_variant,,ENST00000530642,;FOXRED1,non_coding_transcript_exon_variant,,ENST00000534315,;FOXRED1,non_coding_transcript_exon_variant,,ENST00000525083,;FOXRED1,non_coding_transcript_exon_variant,,ENST00000533395,;FOXRED1,downstream_gene_variant,,ENST00000524751,;FOXRED1,downstream_gene_variant,,ENST00000526525,;FOXRED1,downstream_gene_variant,,ENST00000527875,;FOXRED1,downstream_gene_variant,,ENST00000529802,;FOXRED1,downstream_gene_variant,,ENST00000531257,;FOXRED1,downstream_gene_variant,,ENST00000532101,;FOXRED1,upstream_gene_variant,,ENST00000532590,;RPL35AP26,downstream_gene_variant,,ENST00000476981,; T ENSG00000110074 ENST00000263578 Transcript missense_variant 976/1951 923/1461 308/486 P/L cCg/cTg rs775406644 1 NA 1 FOXRED1 HGNC HGNC:26927 protein_coding YES CCDS8471.1 ENSP00000263578 Q96CU9.143 UPI0000037C04 NM_017547.4 tolerated(0.27) benign(0.007) 8/11 Gene3D:3.30.9.10,Gene3D:3.50.50.60,Pfam:PF01266,PANTHER:PTHR13847,PANTHER:PTHR13847:SF44,Superfamily:SSF51905 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . CCG . 6509.6 4.148e-06 NA NA NA NA NA NA NA 3.339e-05 126276171 ETS1 2113 . GRCh38 chr11 128484993 128484993 + Missense_Mutation SNP G G A rs775466195 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.692C>T p.Thr231Met p.T231M ENST00000392668 7/10 NA NA NA NA NA NA ETS1,missense_variant,p.Thr231Met,ENST00000392668,NM_001143820.2;ETS1,missense_variant,p.Thr187Met,ENST00000526145,NM_001330451.2;ETS1,missense_variant,p.Thr187Met,ENST00000319397,NM_005238.4;ETS1,missense_variant,p.Thr187Met,ENST00000531611,;ETS1,intron_variant,,ENST00000535549,NM_001162422.1;ETS1,downstream_gene_variant,,ENST00000608978,; A ENSG00000134954 ENST00000392668 Transcript missense_variant 777/5139 692/1458 231/485 T/M aCg/aTg rs775466195 1 NA -1 ETS1 HGNC HGNC:3488 protein_coding YES CCDS44767.1 ENSP00000376436 P14921.218 UPI00001BDB62 NM_001143820.2 deleterious(0.01) probably_damaging(0.92) 7/10 PIRSF:PIRSF001698,PANTHER:PTHR11849,PANTHER:PTHR11849:SF209 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . CGT . 4627.6 1.593e-05 NA 2.892e-05 NA NA 4.621e-05 NA 0.0001633 3.266e-05 128484993 FBXL14 144699 . GRCh38 chr12 1593925 1593925 + Frame_Shift_Del DEL C C - novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.142del p.Val48TrpfsTer29 p.V48Wfs*29 ENST00000339235 1/2 NA NA NA NA NA NA FBXL14,frameshift_variant,p.Val48TrpfsTer29,ENST00000339235,NM_152441.3;WNT5B,intron_variant,,ENST00000537031,;WNT5B,intron_variant,,ENST00000539198,;WNT5B,intron_variant,,ENST00000545811,;FBXL14,upstream_gene_variant,,ENST00000543278,;,regulatory_region_variant,,ENSR00000047692,; - ENSG00000171823 ENST00000339235 Transcript frameshift_variant 657/2527 142/1257 48/418 V/X Gtg/tg 1 NA -1 FBXL14 HGNC HGNC:28624 protein_coding YES CCDS8509.1 ENSP00000344855 Q8N1E6.148 UPI000006DA06 NM_152441.3 1/2 PANTHER:PTHR13318,PANTHER:PTHR13318:SF43,Superfamily:SSF81383 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 NA NA NA . CACC . 3360.6 NA NA NA NA NA NA NA NA NA 1593924 CACNA2D4 93589 . GRCh38 chr12 1886256 1886256 + Silent SNP G G T NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.960C>A p.Thr320= p.T320= ENST00000586184 8/37 NA NA NA NA NA NA CACNA2D4,synonymous_variant,p.Thr320=,ENST00000382722,NM_172364.5;CACNA2D4,synonymous_variant,p.Thr320=,ENST00000587995,;CACNA2D4,synonymous_variant,p.Thr320=,ENST00000586184,;CACNA2D4,synonymous_variant,p.Thr256=,ENST00000588077,;CACNA2D4,synonymous_variant,p.Thr256=,ENST00000585708,;CACNA2D4,intron_variant,,ENST00000585732,;CACNA2D4,synonymous_variant,p.Thr320=,ENST00000444595,;CACNA2D4,non_coding_transcript_exon_variant,,ENST00000280663,;CACNA2D4,upstream_gene_variant,,ENST00000590880,;,regulatory_region_variant,,ENSR00000964123,; T ENSG00000151062 ENST00000586184 Transcript synonymous_variant 960/3499 960/3465 320/1154 T acC/acA COSV54953819 1 NA -1 CACNA2D4 HGNC HGNC:20202 protein_coding YES ENSP00000465060 Q7Z3S7.129 UPI0001D14731 8/37 Gene3D:3.40.50.410,Pfam:PF13768,PROSITE_profiles:PS50234,PANTHER:PTHR10166,PANTHER:PTHR10166:SF59,SMART:SM00327,Superfamily:SSF53300,CDD:cd01463 NA NA NA NA NA NA NA NA NA 1 NA NA NA NA LOW 1 SNV 5 NA 1 NA 1 . GGG . 1102.6 NA NA NA NA NA NA NA NA NA 1886256 CACNA1C 775 . GRCh38 chr12 2567622 2567622 + Missense_Mutation SNP A A G NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1723A>G p.Met575Val p.M575V ENST00000399634 13/48 NA NA NA NA NA NA CACNA1C,missense_variant,p.Met575Val,ENST00000347598,NM_001129827.2,NM_199460.3;CACNA1C,missense_variant,p.Met575Val,ENST00000327702,NM_001129830.3;CACNA1C,missense_variant,p.Met575Val,ENST00000399603,NM_001167623.2;CACNA1C,missense_variant,p.Met575Val,ENST00000399641,NM_001129840.2;CACNA1C,missense_variant,p.Met575Val,ENST00000399655,NM_000719.7;CACNA1C,missense_variant,p.Met575Val,ENST00000399634,NM_001167625.1;CACNA1C,missense_variant,p.Met575Val,ENST00000406454,;CACNA1C,missense_variant,p.Met575Val,ENST00000399617,NM_001167624.2;CACNA1C,missense_variant,p.Met600Val,ENST00000335762,;CACNA1C,missense_variant,p.Met575Val,ENST00000344100,NM_001129829.1;CACNA1C,missense_variant,p.Met575Val,ENST00000399638,NM_001129831.1;CACNA1C,missense_variant,p.Met575Val,ENST00000399606,NM_001129832.1;CACNA1C,missense_variant,p.Met575Val,ENST00000399621,NM_001129834.1;CACNA1C,missense_variant,p.Met575Val,ENST00000399637,NM_001129835.1;CACNA1C,missense_variant,p.Met575Val,ENST00000402845,NM_001129833.1;CACNA1C,missense_variant,p.Met575Val,ENST00000399629,NM_001129836.1;CACNA1C,missense_variant,p.Met575Val,ENST00000399591,NM_001129838.1,NM_001129846.1;CACNA1C,missense_variant,p.Met575Val,ENST00000399595,NM_001129837.1;CACNA1C,missense_variant,p.Met575Val,ENST00000399649,NM_001129839.1;CACNA1C,missense_variant,p.Met575Val,ENST00000399597,NM_001129842.1,NM_001129844.1;CACNA1C,missense_variant,p.Met575Val,ENST00000399601,NM_001129843.1;CACNA1C,missense_variant,p.Met575Val,ENST00000399644,NM_001129841.1;CACNA1C,downstream_gene_variant,,ENST00000491104,;CACNA1C,3_prime_UTR_variant,,ENST00000480911,;CACNA1C,3_prime_UTR_variant,,ENST00000672806,; G ENSG00000151067 ENST00000399634 Transcript missense_variant 1723/7590 1723/6630 575/2209 M/V Atg/Gtg COSV100218931 1 NA 1 CACNA1C HGNC HGNC:1390 protein_coding YES ENSP00000382542 E9PDI6.70 UPI000155D4FC NM_001167625.1 deleterious(0) possibly_damaging(0.711) 13/48 Gene3D:1.20.120.350,Pfam:PF00520,PANTHER:PTHR45628,PANTHER:PTHR45628:SF11,Superfamily:SSF81324,Transmembrane_helices:TMhelix NA NA NA NA NA NA NA NA NA 1 NA NA NA NA MODERATE 1 SNV 5 NA 1 NA 1 . GAT . 2780.6 NA NA NA NA NA NA NA NA NA 2567622 FOXM1 2305 . GRCh38 chr12 2859220 2859220 + Silent SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1824C>T p.Arg608= p.R608= ENST00000342628 10/10 NA NA NA NA NA NA FOXM1,synonymous_variant,p.Arg570=,ENST00000359843,NM_021953.4;FOXM1,synonymous_variant,p.Arg555=,ENST00000627656,NM_001243088.1;FOXM1,synonymous_variant,p.Arg608=,ENST00000342628,NM_202002.3;FOXM1,synonymous_variant,p.Arg555=,ENST00000361953,NM_001243089.2,NM_202003.3;FOXM1,downstream_gene_variant,,ENST00000535350,;TEX52,upstream_gene_variant,,ENST00000637658,NM_001365174.2,NM_001365175.2;ITFG2,intron_variant,,ENST00000537710,;ITFG2,intron_variant,,ENST00000545509,;ITFG2,intron_variant,,ENST00000643039,;ITFG2,intron_variant,,ENST00000645513,;ITFG2,downstream_gene_variant,,ENST00000540300,;FOXM1,non_coding_transcript_exon_variant,,ENST00000536066,;ITFG2,intron_variant,,ENST00000644123,;ITFG2,intron_variant,,ENST00000644517,;FOXM1,downstream_gene_variant,,ENST00000366362,;,regulatory_region_variant,,ENSR00000964247,; A ENSG00000111206 ENST00000342628 Transcript synonymous_variant 1938/3475 1824/2406 608/801 R cgC/cgT 1 NA -1 FOXM1 HGNC HGNC:3818 protein_coding YES CCDS8516.1 ENSP00000342307 Q08050.209 A0A2P9DTZ8.14 UPI000016B22B NM_202002.3 10/10 MobiDB_lite:mobidb-lite,PANTHER:PTHR46878 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . AGC . 3562.6 NA NA NA NA NA NA NA NA NA 2859220 DYRK4 8798 . GRCh38 chr12 4590368 4590368 + Missense_Mutation SNP G G T novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.252G>T p.Lys84Asn p.K84N ENST00000543431 4/15 NA NA NA NA NA NA DYRK4,missense_variant,p.Lys84Asn,ENST00000543431,NM_001371301.1;DYRK4,5_prime_UTR_variant,,ENST00000540757,NM_003845.2;DYRK4,5_prime_UTR_variant,,ENST00000010132,;DYRK4,non_coding_transcript_exon_variant,,ENST00000536645,;DYRK4,3_prime_UTR_variant,,ENST00000539309,;DYRK4,3_prime_UTR_variant,,ENST00000539701,;DYRK4,3_prime_UTR_variant,,ENST00000537719,;DYRK4,non_coding_transcript_exon_variant,,ENST00000536157,;DYRK4,non_coding_transcript_exon_variant,,ENST00000542905,;DYRK4,non_coding_transcript_exon_variant,,ENST00000538520,;,regulatory_region_variant,,ENSR00000449014,; T ENSG00000010219 ENST00000543431 Transcript missense_variant 294/2068 252/1905 84/634 K/N aaG/aaT 1 NA 1 DYRK4 HGNC HGNC:3095 protein_coding YES ENSP00000439697 A0A0A0MTH5.34 UPI0004620BA0 NM_001371301.1 deleterious(0.01) possibly_damaging(0.464) 4/15 PANTHER:PTHR24058:SF22,PANTHER:PTHR24058 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . AGG . 1286.6 NA NA NA NA NA NA NA NA NA 4590368 VWF 7450 . GRCh38 chr12 5949102 5949102 + Silent SNP G G T novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.8355C>A p.Ala2785= p.A2785= ENST00000261405 52/52 NA NA NA NA NA NA VWF,synonymous_variant,p.Ala2785=,ENST00000261405,NM_000552.5;ANO2,upstream_gene_variant,,ENST00000327087,;ANO2,upstream_gene_variant,,ENST00000356134,NM_001278597.3;ANO2,upstream_gene_variant,,ENST00000546188,NM_001364791.2;ANO2,upstream_gene_variant,,ENST00000650848,NM_001278596.3;VWF,downstream_gene_variant,,ENST00000612016,;VWF,downstream_gene_variant,,ENST00000621700,; T ENSG00000110799 ENST00000261405 Transcript synonymous_variant 8605/8830 8355/8442 2785/2813 A gcC/gcA 1 NA -1 VWF HGNC HGNC:12726 protein_coding YES CCDS8539.1 ENSP00000261405 P04275.252 UPI00001AE7EE NM_000552.5 52/52 PDB-ENSP_mappings:4nt5.A,PIRSF:PIRSF002495,PROSITE_patterns:PS01185,PROSITE_profiles:PS01225,PANTHER:PTHR11339,PANTHER:PTHR11339:SF361,SMART:SM00041 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . GGG . 4064.6 NA NA NA NA NA NA NA NA NA 5949102 PLEKHG6 55200 . GRCh38 chr12 6317572 6317572 + Missense_Mutation SNP G G T rs138345700 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.893G>T p.Gly298Val p.G298V ENST00000396988 9/16 NA NA NA NA NA NA PLEKHG6,missense_variant,p.Gly266Val,ENST00000449001,NM_001144857.1;PLEKHG6,missense_variant,p.Gly298Val,ENST00000396988,NM_001144856.1;PLEKHG6,missense_variant,p.Gly298Val,ENST00000011684,NM_018173.3;PLEKHG6,missense_variant,p.Gly298Val,ENST00000536531,;PLEKHG6,upstream_gene_variant,,ENST00000304581,;PLEKHG6,non_coding_transcript_exon_variant,,ENST00000543000,;PLEKHG6,upstream_gene_variant,,ENST00000535616,;PLEKHG6,upstream_gene_variant,,ENST00000544743,;,regulatory_region_variant,,ENSR00000964622,; T ENSG00000008323 ENST00000396988 Transcript missense_variant 1123/2963 893/2373 298/790 G/V gGg/gTg rs138345700 1 NA 1 PLEKHG6 HGNC HGNC:25562 protein_coding YES CCDS8541.1 ENSP00000380185 Q3KR16.131 A0A2X0TW08.13 UPI000013EFF6 NM_001144856.1 deleterious(0.03) probably_damaging(0.994) 9/16 Gene3D:1.20.900.10,Pfam:PF00621,PROSITE_profiles:PS50010,PANTHER:PTHR47671,SMART:SM00325,Superfamily:SSF48065,CDD:cd00160 NA NA NA NA NA NA NA NA 0.0004651 NA NA NA NA MODERATE 1 SNV 2 NA NA NA . GGG . 2962.6 0.0001561 NA 5.787e-05 NA NA NA 0.0003024 0.0004916 NA 6317572 IFFO1 25900 . GRCh38 chr12 6548808 6548808 + Frame_Shift_Del DEL C C - rs750779916 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1122del p.Arg375GlyfsTer47 p.R375Gfs*47 ENST00000619571 6/10 NA NA NA NA NA NA IFFO1,frameshift_variant,p.Arg60GlyfsTer47,ENST00000465801,;IFFO1,frameshift_variant,p.Arg367GlyfsTer47,ENST00000336604,NM_001330325.2,NM_080730.5;IFFO1,frameshift_variant,p.Arg367GlyfsTer47,ENST00000356896,NM_001039670.3;IFFO1,frameshift_variant,p.Arg364GlyfsTer47,ENST00000396840,NM_001330324.2;IFFO1,frameshift_variant,p.Arg375GlyfsTer47,ENST00000619571,NM_001193457.2;AC006064.1,downstream_gene_variant,,ENST00000499202,;IFFO1,3_prime_UTR_variant,,ENST00000487279,;IFFO1,non_coding_transcript_exon_variant,,ENST00000488007,;IFFO1,non_coding_transcript_exon_variant,,ENST00000471408,;IFFO1,non_coding_transcript_exon_variant,,ENST00000472558,;IFFO1,non_coding_transcript_exon_variant,,ENST00000396830,; - ENSG00000010295 ENST00000619571 Transcript frameshift_variant 1135/2673 1122/1716 374/571 G/X ggG/gg rs750779916,COSV60737300 1 NA -1 IFFO1 HGNC HGNC:24970 protein_coding YES CCDS73425.1 ENSP00000482285 A0A087WZ16.39 UPI0001DD3802 NM_001193457.2 6/10 PROSITE_profiles:PS51842,PANTHER:PTHR14516,PANTHER:PTHR14516:SF2,SMART:SM01391,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA HIGH 1 deletion 2 NA 0,1 NA NA . CGCC . 3902.6 4.159e-06 NA 2.929e-05 NA NA NA NA NA NA 6548807 ACRBP 84519 . GRCh38 chr12 6644597 6644597 + Missense_Mutation SNP G G A rs760419396 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.484C>T p.Arg162Cys p.R162C ENST00000229243 5/10 NA NA NA NA NA NA ACRBP,missense_variant,p.Arg162Cys,ENST00000229243,NM_032489.3;ACRBP,missense_variant,p.Arg162Cys,ENST00000536350,;ACRBP,missense_variant,p.Arg160Cys,ENST00000546114,;ACRBP,intron_variant,,ENST00000414226,;ACRBP,upstream_gene_variant,,ENST00000542357,;ACRBP,3_prime_UTR_variant,,ENST00000535884,;ACRBP,non_coding_transcript_exon_variant,,ENST00000544352,;ACRBP,downstream_gene_variant,,ENST00000538524,; A ENSG00000111644 ENST00000229243 Transcript missense_variant 550/1905 484/1632 162/543 R/C Cgc/Tgc rs760419396,COSV99975944 1 NA -1 ACRBP HGNC HGNC:17195 protein_coding YES CCDS8554.1 ENSP00000229243 Q8NEB7.126 A0A140VJD6.31 UPI000006CCAA NM_032489.3 deleterious(0) possibly_damaging(0.828) 5/10 PANTHER:PTHR21362,Pfam:PF07222 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 1 NA 0,1 NA NA . CGT . 1325.6 4.031e-06 NA NA NA NA NA NA NA 3.301e-05 6644597 LAG3 3902 . GRCh38 chr12 6773205 6773205 + Silent SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.72G>A p.Gln24= p.Q24= ENST00000203629 2/8 NA NA NA NA NA NA LAG3,synonymous_variant,p.Gln24=,ENST00000203629,NM_002286.6;LAG3,synonymous_variant,p.Gln24=,ENST00000441671,;PTMS,downstream_gene_variant,,ENST00000309083,NM_002824.6;PTMS,downstream_gene_variant,,ENST00000389462,NM_001330333.2;PTMS,downstream_gene_variant,,ENST00000538057,;PTMS,downstream_gene_variant,,ENST00000540667,;LAG3,non_coding_transcript_exon_variant,,ENST00000538079,;LAG3,upstream_gene_variant,,ENST00000541049,;,regulatory_region_variant,,ENSR00000048345,; A ENSG00000089692 ENST00000203629 Transcript synonymous_variant 405/1976 72/1578 24/525 Q caG/caA 1 NA 1 LAG3 HGNC HGNC:6476 protein_coding YES CCDS8561.1 ENSP00000203629 P18627.175 UPI000013C645 NM_002286.6 2/8 PANTHER:PTHR11890,PANTHER:PTHR11890:SF18 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . AGC . 1051.6 NA NA NA NA NA NA NA NA NA 6773205 ATN1 1822 . GRCh38 chr12 6936729 6936734 + In_Frame_Del DEL CAGCAG CAGCAG - rs60216939 NA HCI-EC-23 NORMAL CAGCAG CAGCAG NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1503_1508del p.Gln501_Gln502del p.Q501_Q502del ENST00000396684 5/10 NA NA NA NA NA NA ATN1,inframe_deletion,p.Gln501_Gln502del,ENST00000396684,NM_001940.4;ATN1,inframe_deletion,p.Gln501_Gln502del,ENST00000356654,NM_001007026.2;ATN1,upstream_gene_variant,,ENST00000537488,;ATN1,upstream_gene_variant,,ENST00000541029,;,regulatory_region_variant,,ENSR00000048373,; - ENSG00000111676 ENST00000396684 Transcript inframe_deletion 2050-2055/4702 1462-1467/3573 488-489/1190 QQ/- CAGCAG/- rs60216939 1 NA 1 ATN1 HGNC HGNC:3033 protein_coding YES CCDS31734.1 ENSP00000379915 P54259.184 UPI000006F554 NM_001940.4 5/10 Coiled-coils_(Ncoils):Coil,Pfam:PF03154,PANTHER:PTHR13859,PANTHER:PTHR13859:SF9,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 deletion 1 41 1 NA 1 . AACAGCAGC . 844.64 NA NA NA NA NA NA NA NA NA 6936728 CLSTN3 9746 . GRCh38 chr12 7149649 7149649 + Frame_Shift_Del DEL G G - novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2205del p.Leu736TrpfsTer25 p.L736Wfs*25 ENST00000266546 14/18 NA NA NA NA NA NA CLSTN3,frameshift_variant,p.Leu736TrpfsTer25,ENST00000266546,NM_014718.4;AC018653.4,upstream_gene_variant,,ENST00000649358,;CLSTN3,non_coding_transcript_exon_variant,,ENST00000537408,;CLSTN3,non_coding_transcript_exon_variant,,ENST00000541770,;CLSTN3,upstream_gene_variant,,ENST00000542663,; - ENSG00000139182 ENST00000266546 Transcript frameshift_variant 2479/4013 2201/2871 734/956 R/X cGg/cg 1 NA 1 CLSTN3 HGNC HGNC:18371 protein_coding YES CCDS8575.1 ENSP00000266546 Q9BQT9.168 UPI0000049E7C NM_014718.4 14/18 PANTHER:PTHR14139:SF5,PANTHER:PTHR14139 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 4 NA NA . GCGG . 1781.6 NA NA NA NA NA NA NA NA NA 7149648 CD163L1 283316 . GRCh38 chr12 7369507 7369507 + Silent SNP T T G novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3919A>C p.Arg1307= p.R1307= ENST00000416109 15/20 NA NA NA NA NA NA CD163L1,synonymous_variant,p.Arg1307=,ENST00000416109,NM_001297650.1;CD163L1,synonymous_variant,p.Arg1297=,ENST00000313599,NM_174941.6;CD163L1,upstream_gene_variant,,ENST00000539726,;CD163L1,upstream_gene_variant,,ENST00000543841,;CD163L1,upstream_gene_variant,,ENST00000545597,;CD163L1,upstream_gene_variant,,ENST00000546182,;,regulatory_region_variant,,ENSR00000449776,;,TF_binding_site_variant,,ENSM00204254434,; G ENSG00000177675 ENST00000416109 Transcript synonymous_variant 3938/4603 3919/4392 1307/1463 R Agg/Cgg 1 NA -1 CD163L1 HGNC HGNC:30375 protein_coding YES CCDS73434.1 ENSP00000393474 Q9NR16.143 UPI0001AE6A76 NM_001297650.1 15/20 Gene3D:3.10.250.10,Pfam:PF00530,PROSITE_profiles:PS50287,PANTHER:PTHR19331,PANTHER:PTHR19331:SF309,SMART:SM00202,Superfamily:SSF56487 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 2 NA NA NA . CTC . 4109.6 NA NA NA NA NA NA NA NA NA 7369507 FAM90A1 55138 . GRCh38 chr12 8222185 8222186 + In_Frame_Ins INS - - ACG rs71265055 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1031_1032insCGT p.Thr344_Ser345insVal p.T344_S345insV ENST00000538603 7/7 NA NA NA NA NA NA FAM90A1,inframe_insertion,p.Thr344_Ser345insVal,ENST00000538603,NM_018088.3;FAM90A1,inframe_insertion,p.Thr344_Ser345insVal,ENST00000307435,NM_001319982.1;FAM90A1,downstream_gene_variant,,ENST00000442295,;AC092111.1,downstream_gene_variant,,ENST00000618256,;DEFB109F,upstream_gene_variant,,ENST00000542600,; ACG ENSG00000171847 ENST00000538603 Transcript inframe_insertion 1590-1591/2516 1031-1032/1395 344/464 T/TV acg/acCGTg rs71265055,COSV56709700 1 NA -1 FAM90A1 HGNC HGNC:25526 protein_coding YES CCDS31738.1 ENSP00000445418 Q86YD7.117 UPI000013EC10 NM_018088.3 7/7 PANTHER:PTHR16035,PANTHER:PTHR16035:SF13,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite 0.4327 NA NA NA NA NA NA 0.1778 0.7048 0,1 NA NA NA NA MODERATE 1 insertion 1 NA 0,1 NA NA . ACG . 2849.64 NA NA NA NA NA NA NA NA NA 8222185 A2M 2 . GRCh38 chr12 9090001 9090001 + Silent SNP G G A rs767057851 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2619C>T p.Ser873= p.S873= ENST00000318602 21/36 NA NA NA NA NA NA A2M,synonymous_variant,p.Ser873=,ENST00000318602,NM_001347423.2,NM_001347425.2,NM_000014.6,NM_001347424.2;A2M,non_coding_transcript_exon_variant,,ENST00000543436,;A2M,intron_variant,,ENST00000545828,;A2M,non_coding_transcript_exon_variant,,ENST00000462568,;A2M,downstream_gene_variant,,ENST00000546069,; A ENSG00000175899 ENST00000318602 Transcript synonymous_variant 2689/4610 2619/4425 873/1474 S agC/agT rs767057851,COSV59383584 1 NA -1 A2M HGNC HGNC:7 protein_coding YES CCDS44827.1 ENSP00000323929 P01023.223 UPI000014038F NM_001347423.2,NM_001347425.2,NM_000014.6,NM_001347424.2 21/36 PDB-ENSP_mappings:4acq.A,PDB-ENSP_mappings:4acq.B,PDB-ENSP_mappings:4acq.C,PDB-ENSP_mappings:4acq.D,PANTHER:PTHR11412,PANTHER:PTHR11412:SF153,Gene3D:2.60.40.10,Superfamily:SSF81296 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA LOW 1 SNV 1 NA 0,1 NA 1 . CGC . 839.6 8.068e-06 NA NA NA 5.592e-05 NA 8.875e-06 NA NA 9090001 PZP 5858 . GRCh38 chr12 9149596 9149596 + Missense_Mutation SNP G G T NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4391C>A p.Ser1464Tyr p.S1464Y ENST00000261336 35/36 NA NA NA NA NA NA PZP,missense_variant,p.Ser1464Tyr,ENST00000261336,NM_002864.3;PZP,3_prime_UTR_variant,,ENST00000535230,;,regulatory_region_variant,,ENSR00000267103,;,regulatory_region_variant,,ENSR00000964932,; T ENSG00000126838 ENST00000261336 Transcript missense_variant 4445/4635 4391/4449 1464/1482 S/Y tCt/tAt COSV54359426,COSV54363396 1 NA -1 PZP HGNC HGNC:9750 protein_coding YES CCDS8600.1 ENSP00000261336 P20742.178 UPI000013D168 NM_002864.3 tolerated(0.24) benign(0.021) 35/36 PANTHER:PTHR11412,PANTHER:PTHR11412:SF92,Pfam:PF07677,Gene3D:2.60.40.690,SMART:SM01361,Superfamily:SSF49410 NA NA NA NA NA NA NA NA NA 1,1 NA NA NA NA MODERATE 1 SNV 1 NA 1,1 NA NA . AGA . 1242.6 NA NA NA NA NA NA NA NA NA 9149596 TAS2R19 259294 . GRCh38 chr12 11021678 11021678 + Silent SNP T T C rs77261890 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.894A>G p.Thr298= p.T298= ENST00000390673 1/1 NA NA NA NA NA NA TAS2R19,synonymous_variant,p.Thr298=,ENST00000390673,NM_176888.2;AC018630.4,intron_variant,,ENST00000535024,;PRH1,intron_variant,,ENST00000539853,;TAS2R14,intron_variant,,ENST00000381852,NM_001316893.2;PRH1,intron_variant,,ENST00000534923,;PRH1,intron_variant,,ENST00000536086,;PRH1,intron_variant,,ENST00000541456,;PRH1,intron_variant,,ENST00000541977,;AC018630.4,intron_variant,,ENST00000536668,; C ENSG00000212124 ENST00000390673 Transcript synonymous_variant 943/1002 894/900 298/299 T acA/acG rs77261890,COSV66827947 1 NA -1 TAS2R19 HGNC HGNC:19108 protein_coding YES CCDS8640.1 ENSP00000375091 P59542.133 UPI000000D7CF NM_176888.2 1/1 Gene3D:1.20.1070.10,PANTHER:PTHR11394,PANTHER:PTHR11394:SF27 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA LOW NA SNV NA NA 0,1 NA NA . GTG . 458.6 2.121e-05 NA 2.977e-05 NA 5.809e-05 0.0001006 9.543e-06 NA NA 11021678 TAS2R19 259294 . GRCh38 chr12 11021683 11021683 + Missense_Mutation SNP T T C rs74386164 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.889A>G p.Met297Val p.M297V ENST00000390673 1/1 NA NA NA NA NA NA TAS2R19,missense_variant,p.Met297Val,ENST00000390673,NM_176888.2;AC018630.4,intron_variant,,ENST00000535024,;PRH1,intron_variant,,ENST00000539853,;TAS2R14,intron_variant,,ENST00000381852,NM_001316893.2;PRH1,intron_variant,,ENST00000534923,;PRH1,intron_variant,,ENST00000536086,;PRH1,intron_variant,,ENST00000541456,;PRH1,intron_variant,,ENST00000541977,;AC018630.4,intron_variant,,ENST00000536668,; C ENSG00000212124 ENST00000390673 Transcript missense_variant 938/1002 889/900 297/299 M/V Atg/Gtg rs74386164 1 NA -1 TAS2R19 HGNC HGNC:19108 protein_coding YES CCDS8640.1 ENSP00000375091 P59542.133 UPI000000D7CF NM_176888.2 tolerated(0.77) benign(0.001) 1/1 Gene3D:1.20.1070.10,Pfam:PF05296,PANTHER:PTHR11394,PANTHER:PTHR11394:SF27 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE NA SNV NA NA NA NA . ATC . 437.6 2.119e-05 NA 5.967e-05 NA 5.803e-05 5.016e-05 9.531e-06 NA NA 11021683 TAS2R19 259294 . GRCh38 chr12 11021817 11021817 + Missense_Mutation SNP A A G rs112900131 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.755T>C p.Leu252Pro p.L252P ENST00000390673 1/1 NA NA NA NA NA NA TAS2R19,missense_variant,p.Leu252Pro,ENST00000390673,NM_176888.2;AC018630.4,intron_variant,,ENST00000535024,;PRH1,intron_variant,,ENST00000539853,;TAS2R14,intron_variant,,ENST00000381852,NM_001316893.2;PRH1,intron_variant,,ENST00000534923,;PRH1,intron_variant,,ENST00000536086,;PRH1,intron_variant,,ENST00000541456,;PRH1,intron_variant,,ENST00000541977,;AC018630.4,intron_variant,,ENST00000536668,; G ENSG00000212124 ENST00000390673 Transcript missense_variant 804/1002 755/900 252/299 L/P cTt/cCt rs112900131 1 NA -1 TAS2R19 HGNC HGNC:19108 protein_coding YES CCDS8640.1 ENSP00000375091 P59542.133 UPI000000D7CF NM_176888.2 tolerated(0.21) benign(0.003) 1/1 Gene3D:1.20.1070.10,Pfam:PF05296,PANTHER:PTHR11394,PANTHER:PTHR11394:SF27,Superfamily:SSF81321,CDD:cd15027 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE NA SNV NA NA NA NA . AAG . 850.6 4.445e-05 NA NA NA NA 0.000255 5.339e-05 NA NA 11021817 TAS2R19 259294 . GRCh38 chr12 11021867 11021867 + Silent SNP G G A rs199592952 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.705C>T p.Leu235= p.L235= ENST00000390673 1/1 NA NA NA NA NA NA TAS2R19,synonymous_variant,p.Leu235=,ENST00000390673,NM_176888.2;AC018630.4,intron_variant,,ENST00000535024,;PRH1,intron_variant,,ENST00000539853,;TAS2R14,intron_variant,,ENST00000381852,NM_001316893.2;PRH1,intron_variant,,ENST00000534923,;PRH1,intron_variant,,ENST00000536086,;PRH1,intron_variant,,ENST00000541456,;PRH1,intron_variant,,ENST00000541977,;AC018630.4,intron_variant,,ENST00000536668,; A ENSG00000212124 ENST00000390673 Transcript synonymous_variant 754/1002 705/900 235/299 L ctC/ctT rs199592952 1 NA -1 TAS2R19 HGNC HGNC:19108 protein_coding YES CCDS8640.1 ENSP00000375091 P59542.133 UPI000000D7CF NM_176888.2 1/1 Gene3D:1.20.1070.10,Pfam:PF05296,PANTHER:PTHR11394,PANTHER:PTHR11394:SF27,Superfamily:SSF81321,Transmembrane_helices:TMhelix,CDD:cd15027 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW NA SNV NA NA NA NA . TGA . 235.6 3.988e-06 NA NA NA NA NA 8.814e-06 NA NA 11021867 TAS2R19 259294 . GRCh38 chr12 11021877 11021877 + Missense_Mutation SNP G G A rs200081075 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.695C>T p.Thr232Ile p.T232I ENST00000390673 1/1 NA NA NA NA NA NA TAS2R19,missense_variant,p.Thr232Ile,ENST00000390673,NM_176888.2;AC018630.4,intron_variant,,ENST00000535024,;PRH1,intron_variant,,ENST00000539853,;TAS2R14,intron_variant,,ENST00000381852,NM_001316893.2;PRH1,intron_variant,,ENST00000534923,;PRH1,intron_variant,,ENST00000536086,;PRH1,intron_variant,,ENST00000541456,;PRH1,intron_variant,,ENST00000541977,;AC018630.4,intron_variant,,ENST00000536668,; A ENSG00000212124 ENST00000390673 Transcript missense_variant 744/1002 695/900 232/299 T/I aCc/aTc rs200081075 1 NA -1 TAS2R19 HGNC HGNC:19108 protein_coding YES CCDS8640.1 ENSP00000375091 P59542.133 UPI000000D7CF NM_176888.2 tolerated(1) benign(0.001) 1/1 Gene3D:1.20.1070.10,Pfam:PF05296,PANTHER:PTHR11394,PANTHER:PTHR11394:SF27,Superfamily:SSF81321,Transmembrane_helices:TMhelix,CDD:cd15027 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE NA SNV NA NA NA NA . GGT . 140.6 3.986e-06 NA NA NA NA 4.665e-05 NA NA NA 11021877 TAS2R19 259294 . GRCh38 chr12 11021879 11021879 + Silent SNP C C A rs751784326 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.693G>T p.Val231= p.V231= ENST00000390673 1/1 NA NA NA NA NA NA TAS2R19,synonymous_variant,p.Val231=,ENST00000390673,NM_176888.2;AC018630.4,intron_variant,,ENST00000535024,;PRH1,intron_variant,,ENST00000539853,;TAS2R14,intron_variant,,ENST00000381852,NM_001316893.2;PRH1,intron_variant,,ENST00000534923,;PRH1,intron_variant,,ENST00000536086,;PRH1,intron_variant,,ENST00000541456,;PRH1,intron_variant,,ENST00000541977,;AC018630.4,intron_variant,,ENST00000536668,; A ENSG00000212124 ENST00000390673 Transcript synonymous_variant 742/1002 693/900 231/299 V gtG/gtT rs751784326 1 NA -1 TAS2R19 HGNC HGNC:19108 protein_coding YES CCDS8640.1 ENSP00000375091 P59542.133 UPI000000D7CF NM_176888.2 1/1 Gene3D:1.20.1070.10,Pfam:PF05296,PANTHER:PTHR11394,PANTHER:PTHR11394:SF27,Superfamily:SSF81321,Transmembrane_helices:TMhelix,CDD:cd15027 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW NA SNV NA NA NA NA . TCA . 105.6 3.986e-06 NA NA NA NA 4.671e-05 NA NA NA 11021879 TAS2R31 259291 . GRCh38 chr12 11030443 11030443 + Missense_Mutation SNP C C G rs3759246 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.893G>C p.Arg298Thr p.R298T ENST00000390675 1/1 NA NA NA NA NA NA TAS2R31,missense_variant,p.Arg298Thr,ENST00000390675,NM_176885.2;AC018630.4,intron_variant,,ENST00000535024,;PRH1,intron_variant,,ENST00000539853,;TAS2R14,intron_variant,,ENST00000381852,NM_001316893.2;PRH1,intron_variant,,ENST00000534923,;PRH1,intron_variant,,ENST00000536086,;PRH1,intron_variant,,ENST00000541456,;PRH1,intron_variant,,ENST00000541977,;AC018630.4,intron_variant,,ENST00000536668,; G ENSG00000256436 ENST00000390675 Transcript missense_variant 965/1021 893/930 298/309 R/T aGg/aCg rs3759246 1 NA -1 TAS2R31 HGNC HGNC:19113 protein_coding YES CCDS53747.1 ENSP00000375093 P59538.130 UPI000000D820 NM_176885.2 tolerated(0.07) possibly_damaging(0.6) 1/1 PANTHER:PTHR11394,PANTHER:PTHR11394:SF129,Gene3D:1.20.1070.10,Superfamily:SSF81321 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE NA SNV NA NA NA NA . CCT . 6752.6 3.264e-05 NA NA NA 0.0001149 NA 5.39e-05 NA NA 11030443 TAS2R31 259291 . GRCh38 chr12 11030447 11030447 + Missense_Mutation SNP C C T rs201730548 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.889G>A p.Val297Met p.V297M ENST00000390675 1/1 NA NA NA NA NA NA TAS2R31,missense_variant,p.Val297Met,ENST00000390675,NM_176885.2;AC018630.4,intron_variant,,ENST00000535024,;PRH1,intron_variant,,ENST00000539853,;TAS2R14,intron_variant,,ENST00000381852,NM_001316893.2;PRH1,intron_variant,,ENST00000534923,;PRH1,intron_variant,,ENST00000536086,;PRH1,intron_variant,,ENST00000541456,;PRH1,intron_variant,,ENST00000541977,;AC018630.4,intron_variant,,ENST00000536668,; T ENSG00000256436 ENST00000390675 Transcript missense_variant 961/1021 889/930 297/309 V/M Gtg/Atg rs201730548 1 NA -1 TAS2R31 HGNC HGNC:19113 protein_coding YES CCDS53747.1 ENSP00000375093 P59538.130 UPI000000D820 NM_176885.2 tolerated(0.34) benign(0.292) 1/1 PANTHER:PTHR11394,PANTHER:PTHR11394:SF129,Pfam:PF05296,Gene3D:1.20.1070.10,Superfamily:SSF81321 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE NA SNV NA NA NA NA . ACT . 6656.6 3.729e-05 0.0001311 2.946e-05 NA 5.721e-05 5.192e-05 1.827e-05 0.0003373 NA 11030447 TAS2R31 259291 . GRCh38 chr12 11030453 11030453 + Missense_Mutation SNP G G A rs199894662 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.883C>T p.Arg295Trp p.R295W ENST00000390675 1/1 NA NA NA NA NA NA TAS2R31,missense_variant,p.Arg295Trp,ENST00000390675,NM_176885.2;AC018630.4,intron_variant,,ENST00000535024,;PRH1,intron_variant,,ENST00000539853,;TAS2R14,intron_variant,,ENST00000381852,NM_001316893.2;PRH1,intron_variant,,ENST00000534923,;PRH1,intron_variant,,ENST00000536086,;PRH1,intron_variant,,ENST00000541456,;PRH1,intron_variant,,ENST00000541977,;AC018630.4,intron_variant,,ENST00000536668,; A ENSG00000256436 ENST00000390675 Transcript missense_variant 955/1021 883/930 295/309 R/W Cgg/Tgg rs199894662 1 NA -1 TAS2R31 HGNC HGNC:19113 protein_coding YES CCDS53747.1 ENSP00000375093 P59538.130 UPI000000D820 NM_176885.2 tolerated(1) benign(0.003) 1/1 PANTHER:PTHR11394,PANTHER:PTHR11394:SF129,Pfam:PF05296,Gene3D:1.20.1070.10,Superfamily:SSF81321 2e-04 NA NA NA 0.001 NA NA NA NA NA NA NA NA MODERATE NA SNV NA NA NA NA . CGC . 6264.6 8.161e-05 0.0001301 NA NA 5.607e-05 NA 0.000108 0.0008353 NA 11030453 TAS2R31 259291 . GRCh38 chr12 11030467 11030467 + Missense_Mutation SNP A A T rs138895028 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.869T>A p.Phe290Tyr p.F290Y ENST00000390675 1/1 NA NA NA NA NA NA TAS2R31,missense_variant,p.Phe290Tyr,ENST00000390675,NM_176885.2;AC018630.4,intron_variant,,ENST00000535024,;PRH1,intron_variant,,ENST00000539853,;TAS2R14,intron_variant,,ENST00000381852,NM_001316893.2;PRH1,intron_variant,,ENST00000534923,;PRH1,intron_variant,,ENST00000536086,;PRH1,intron_variant,,ENST00000541456,;PRH1,intron_variant,,ENST00000541977,;AC018630.4,intron_variant,,ENST00000536668,; T ENSG00000256436 ENST00000390675 Transcript missense_variant 941/1021 869/930 290/309 F/Y tTt/tAt rs138895028 1 NA -1 TAS2R31 HGNC HGNC:19113 protein_coding YES CCDS53747.1 ENSP00000375093 P59538.130 UPI000000D820 NM_176885.2 deleterious(0.03) benign(0.25) 1/1 CDD:cd15027,PANTHER:PTHR11394,PANTHER:PTHR11394:SF129,Pfam:PF05296,Gene3D:1.20.1070.10,Superfamily:SSF81321 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE NA SNV NA NA NA NA . AAA . 5073.6 2.032e-05 0.0001299 NA NA NA NA 1.794e-05 0.0001669 NA 11030467 TAS2R31 259291 . GRCh38 chr12 11030508 11030508 + Silent SNP T T C rs777370329 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.828A>G p.Pro276= p.P276= ENST00000390675 1/1 NA NA NA NA NA NA TAS2R31,synonymous_variant,p.Pro276=,ENST00000390675,NM_176885.2;AC018630.4,intron_variant,,ENST00000535024,;PRH1,intron_variant,,ENST00000539853,;TAS2R14,intron_variant,,ENST00000381852,NM_001316893.2;PRH1,intron_variant,,ENST00000534923,;PRH1,intron_variant,,ENST00000536086,;PRH1,intron_variant,,ENST00000541456,;PRH1,intron_variant,,ENST00000541977,;AC018630.4,intron_variant,,ENST00000536668,; C ENSG00000256436 ENST00000390675 Transcript synonymous_variant 900/1021 828/930 276/309 P ccA/ccG rs777370329 1 NA -1 TAS2R31 HGNC HGNC:19113 protein_coding YES CCDS53747.1 ENSP00000375093 P59538.130 UPI000000D820 NM_176885.2 1/1 CDD:cd15027,PANTHER:PTHR11394,PANTHER:PTHR11394:SF129,Pfam:PF05296,Gene3D:1.20.1070.10,Superfamily:SSF81321 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW NA SNV NA NA NA NA . ATG . 1000.6 8.074e-06 6.483e-05 NA NA NA NA 8.926e-06 NA NA 11030508 TAS2R31 259291 . GRCh38 chr12 11030515 11030515 + Missense_Mutation SNP A A G rs745749909 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.821T>C p.Ile274Thr p.I274T ENST00000390675 1/1 NA NA NA NA NA NA TAS2R31,missense_variant,p.Ile274Thr,ENST00000390675,NM_176885.2;AC018630.4,intron_variant,,ENST00000535024,;PRH1,intron_variant,,ENST00000539853,;TAS2R14,intron_variant,,ENST00000381852,NM_001316893.2;PRH1,intron_variant,,ENST00000534923,;PRH1,intron_variant,,ENST00000536086,;PRH1,intron_variant,,ENST00000541456,;PRH1,intron_variant,,ENST00000541977,;AC018630.4,intron_variant,,ENST00000536668,; G ENSG00000256436 ENST00000390675 Transcript missense_variant 893/1021 821/930 274/309 I/T aTc/aCc rs745749909 1 NA -1 TAS2R31 HGNC HGNC:19113 protein_coding YES CCDS53747.1 ENSP00000375093 P59538.130 UPI000000D820 NM_176885.2 tolerated(0.49) benign(0.003) 1/1 CDD:cd15027,PANTHER:PTHR11394,PANTHER:PTHR11394:SF129,Pfam:PF05296,Gene3D:1.20.1070.10,Superfamily:SSF81321 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE NA SNV NA NA NA NA . GAT . 725.6 3.234e-05 6.483e-05 2.941e-05 NA 0.0002193 4.665e-05 8.942e-06 NA NA 11030515 TAS2R31 259291 . GRCh38 chr12 11030516 11030516 + Missense_Mutation SNP T T C rs770006497 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.820A>G p.Ile274Val p.I274V ENST00000390675 1/1 NA NA NA NA NA NA TAS2R31,missense_variant,p.Ile274Val,ENST00000390675,NM_176885.2;AC018630.4,intron_variant,,ENST00000535024,;PRH1,intron_variant,,ENST00000539853,;TAS2R14,intron_variant,,ENST00000381852,NM_001316893.2;PRH1,intron_variant,,ENST00000534923,;PRH1,intron_variant,,ENST00000536086,;PRH1,intron_variant,,ENST00000541456,;PRH1,intron_variant,,ENST00000541977,;AC018630.4,intron_variant,,ENST00000536668,; C ENSG00000256436 ENST00000390675 Transcript missense_variant 892/1021 820/930 274/309 I/V Atc/Gtc rs770006497 1 NA -1 TAS2R31 HGNC HGNC:19113 protein_coding YES CCDS53747.1 ENSP00000375093 P59538.130 UPI000000D820 NM_176885.2 tolerated(0.53) benign(0.012) 1/1 CDD:cd15027,PANTHER:PTHR11394,PANTHER:PTHR11394:SF129,Pfam:PF05296,Gene3D:1.20.1070.10,Superfamily:SSF81321 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE NA SNV NA NA NA NA . ATT . 688.6 2.427e-05 6.482e-05 NA NA NA 4.671e-05 8.947e-06 0.0001673 6.584e-05 11030516 TAS2R31 259291 . GRCh38 chr12 11030522 11030522 + Missense_Mutation SNP G G A rs763119976 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.814C>T p.Pro272Ser p.P272S ENST00000390675 1/1 NA NA NA NA NA NA TAS2R31,missense_variant,p.Pro272Ser,ENST00000390675,NM_176885.2;AC018630.4,intron_variant,,ENST00000535024,;PRH1,intron_variant,,ENST00000539853,;TAS2R14,intron_variant,,ENST00000381852,NM_001316893.2;PRH1,intron_variant,,ENST00000534923,;PRH1,intron_variant,,ENST00000536086,;PRH1,intron_variant,,ENST00000541456,;PRH1,intron_variant,,ENST00000541977,;AC018630.4,intron_variant,,ENST00000536668,; A ENSG00000256436 ENST00000390675 Transcript missense_variant 886/1021 814/930 272/309 P/S Cct/Tct rs763119976 1 NA -1 TAS2R31 HGNC HGNC:19113 protein_coding YES CCDS53747.1 ENSP00000375093 P59538.130 UPI000000D820 NM_176885.2 deleterious(0.03) possibly_damaging(0.687) 1/1 CDD:cd15027,PANTHER:PTHR11394,PANTHER:PTHR11394:SF129,Pfam:PF05296,Gene3D:1.20.1070.10,Superfamily:SSF81321 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE NA SNV NA NA NA NA . GGA . 470.6 1.212e-05 6.483e-05 NA NA NA NA 1.787e-05 NA NA 11030522 TAS2R31 259291 . GRCh38 chr12 11030524 11030524 + Missense_Mutation SNP T T C rs201103714 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.812A>G p.Tyr271Cys p.Y271C ENST00000390675 1/1 NA NA NA NA NA NA TAS2R31,missense_variant,p.Tyr271Cys,ENST00000390675,NM_176885.2;AC018630.4,intron_variant,,ENST00000535024,;PRH1,intron_variant,,ENST00000539853,;TAS2R14,intron_variant,,ENST00000381852,NM_001316893.2;PRH1,intron_variant,,ENST00000534923,;PRH1,intron_variant,,ENST00000536086,;PRH1,intron_variant,,ENST00000541456,;PRH1,intron_variant,,ENST00000541977,;AC018630.4,intron_variant,,ENST00000536668,; C ENSG00000256436 ENST00000390675 Transcript missense_variant 884/1021 812/930 271/309 Y/C tAt/tGt rs201103714 1 NA -1 TAS2R31 HGNC HGNC:19113 protein_coding YES CCDS53747.1 ENSP00000375093 P59538.130 UPI000000D820 NM_176885.2 tolerated(0.05) benign(0.35) 1/1 CDD:cd15027,PANTHER:PTHR11394,PANTHER:PTHR11394:SF129,Pfam:PF05296,Gene3D:1.20.1070.10,Superfamily:SSF81321 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE NA SNV NA NA NA NA . ATA . 458.6 3.236e-05 6.492e-05 NA NA NA 4.661e-05 4.476e-05 NA 3.291e-05 11030524 TAS2R31 259291 . GRCh38 chr12 11030534 11030534 + Missense_Mutation SNP T T C rs756675035 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.802A>G p.Arg268Gly p.R268G ENST00000390675 1/1 NA NA NA NA NA NA TAS2R31,missense_variant,p.Arg268Gly,ENST00000390675,NM_176885.2;AC018630.4,intron_variant,,ENST00000535024,;PRH1,intron_variant,,ENST00000539853,;TAS2R14,intron_variant,,ENST00000381852,NM_001316893.2;PRH1,intron_variant,,ENST00000534923,;PRH1,intron_variant,,ENST00000536086,;PRH1,intron_variant,,ENST00000541456,;PRH1,intron_variant,,ENST00000541977,;AC018630.4,intron_variant,,ENST00000536668,; C ENSG00000256436 ENST00000390675 Transcript missense_variant 874/1021 802/930 268/309 R/G Aga/Gga rs756675035,COSV66829647 1 NA -1 TAS2R31 HGNC HGNC:19113 protein_coding YES CCDS53747.1 ENSP00000375093 P59538.130 UPI000000D820 NM_176885.2 tolerated(1) benign(0.001) 1/1 CDD:cd15027,PANTHER:PTHR11394,PANTHER:PTHR11394:SF129,Pfam:PF05296,Gene3D:1.20.1070.10,Superfamily:SSF81321 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE NA SNV NA NA 0,1 NA NA . CTA . 158.6 NA NA NA NA NA NA NA NA NA 11030534 PRB3 5544 . GRCh38 chr12 11267402 11267526 + Frame_Shift_Del DEL GTGGGGGACCTTGAGGTTTGTTGCCTCCTTGTGAAGGTGGTCCTTCTGGCTTTCCTGGACGAGGTGGGGGACCTTGGGACTGGTTTCCTCCTTGTGGGGGTGGTCCTTCTGGCTTTCCTGGACGA GTGGGGGACCTTGAGGTTTGTTGCCTCCTTGTGAAGGTGGTCCTTCTGGCTTTCCTGGACGAGGTGGGGGACCTTGGGACTGGTTTCCTCCTTGTGGGGGTGGTCCTTCTGGCTTTCCTGGACGA - novel NA HCI-EC-23 NORMAL GTGGGGGACCTTGAGGTTTGTTGCCTCCTTGTGAAGGTGGTCCTTCTGGCTTTCCTGGACGAGGTGGGGGACCTTGGGACTGGTTTCCTCCTTGTGGGGGTGGTCCTTCTGGCTTTCCTGGACGA GTGGGGGACCTTGAGGTTTGTTGCCTCCTTGTGAAGGTGGTCCTTCTGGCTTTCCTGGACGAGGTGGGGGACCTTGGGACTGGTTTCCTCCTTGTGGGGGTGGTCCTTCTGGCTTTCCTGGACGA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.723_847del p.Arg242SerfsTer14 p.R242Sfs*14 ENST00000538488 3/4 NA NA NA NA NA NA PRB3,splice_acceptor_variant,,ENST00000381842,;PRB3,frameshift_variant,p.Arg242SerfsTer14,ENST00000538488,NM_006249.5;PRB3,downstream_gene_variant,,ENST00000539835,; - ENSG00000197870 ENST00000538488 Transcript frameshift_variant 859-983/1283 723-847/1056 241-283/351 PRPGKPEGPPPQGGNQSQGPPPRPGKPEGPPSQGGNKPQGPPP/PX ccTCGTCCAGGAAAGCCAGAAGGACCACCCCCACAAGGAGGAAACCAGTCCCAAGGTCCCCCACCTCGTCCAGGAAAGCCAGAAGGACCACCTTCACAAGGAGGCAACAAACCTCAAGGTCCCCCACct/ccct 1 NA -1 PRB3 HGNC HGNC:9339 protein_coding YES ENSP00000442626 F5H7C1.62 UPI00002371BA NM_006249.5 3/4 Low_complexity_(Seg):seg,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite,PANTHER:PTHR23203,PANTHER:PTHR23203,PANTHER:PTHR23203:SF4,PANTHER:PTHR23203:SF4,Pfam:PF15240,SMART:SM01412 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 5 NA NA NA . AGGTGGGGGACCTTGAGGTTTGTTGCCTCCTTGTGAAGGTGGTCCTTCTGGCTTTCCTGGACGAGGTGGGGGACCTTGGGACTGGTTTCCTCCTTGTGGGGGTGGTCCTTCTGGCTTTCCTGGACGAG . 3103.6 NA NA NA NA NA NA NA NA NA 11267401 GPR19 2842 . GRCh38 chr12 12661340 12661340 + Frame_Shift_Del DEL T T - rs1416935976 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1109del p.Asn370ThrfsTer59 p.N370Tfs*59 ENST00000651487 4/4 NA NA NA NA NA NA GPR19,frameshift_variant,p.Asn370ThrfsTer59,ENST00000651487,NM_006143.3;GPR19,frameshift_variant,p.Asn370ThrfsTer59,ENST00000540510,;GPR19,frameshift_variant,p.Asn370ThrfsTer59,ENST00000332427,;GPR19,downstream_gene_variant,,ENST00000540796,;,regulatory_region_variant,,ENSR00000450867,;,TF_binding_site_variant,,ENSM00178306989,;,TF_binding_site_variant,,ENSM00178458654,;,TF_binding_site_variant,,ENSM00211389400,;,TF_binding_site_variant,,ENSM00179276683,;,TF_binding_site_variant,,ENSM00156752387,;,TF_binding_site_variant,,ENSM00210857222,;,TF_binding_site_variant,,ENSM00211262881,; - ENSG00000183150 ENST00000651487 Transcript frameshift_variant 1460/1910 1109/1248 370/415 N/X aAc/ac rs1416935976 1 NA -1 GPR19 HGNC HGNC:4473 protein_coding YES CCDS8652.1 ENSP00000498976 Q15760.154 UPI000013CAB3 NM_006143.3 4/4 Gene3D:1.20.1070.10,PANTHER:PTHR24241,PANTHER:PTHR24241:SF148 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion NA NA NA NA . AGTT . 4465.6 7.961e-06 NA 2.895e-05 NA NA NA 8.797e-06 NA NA 12661339 PTPRO 5800 . GRCh38 chr12 15516796 15516796 + Missense_Mutation SNP C C T NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1619C>T p.Pro540Leu p.P540L ENST00000674316 9/26 NA NA NA NA NA NA PTPRO,missense_variant,p.Pro540Leu,ENST00000674316,;PTPRO,missense_variant,p.Pro540Leu,ENST00000281171,NM_030667.3;PTPRO,missense_variant,p.Pro540Leu,ENST00000348962,NM_002848.4;PTPRO,missense_variant,p.Pro392Leu,ENST00000674188,;PTPRO,missense_variant,p.Pro540Leu,ENST00000543886,;PTPRO,missense_variant,p.Pro540Leu,ENST00000674261,;PTPRO,missense_variant,p.Pro375Leu,ENST00000674286,;PTPRO,3_prime_UTR_variant,,ENST00000674391,; T ENSG00000151490 ENST00000674316 Transcript missense_variant 2089/6403 1619/3651 540/1216 P/L cCt/cTt COSV99840438 1 NA 1 PTPRO HGNC HGNC:9678 protein_coding YES CCDS8675.1 ENSP00000501352 UPI000013DC62 deleterious(0) possibly_damaging(0.857) 9/26 CDD:cd00063,Gene3D:2.60.40.10,SMART:SM00060,Superfamily:SSF49265,PROSITE_profiles:PS50853,PANTHER:PTHR47028 NA NA NA NA NA NA NA NA NA 1 NA NA NA NA MODERATE 1 SNV NA NA 1 NA 1 . CCT . 3385.6 NA NA NA NA NA NA NA NA NA 15516796 PLCZ1 89869 . GRCh38 chr12 18699935 18699935 + Frame_Shift_Del DEL T T - novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1156del p.Ile386LeufsTer82 p.I386Lfs*82 ENST00000648272 9/14 NA NA NA NA NA NA PLCZ1,frameshift_variant,p.Ile386LeufsTer82,ENST00000648272,;PLCZ1,frameshift_variant,p.Ile345LeufsTer82,ENST00000266505,NM_033123.4,NM_001330774.2;PLCZ1,frameshift_variant,p.Ile127LeufsTer82,ENST00000538330,;PLCZ1,frameshift_variant,p.Ile152LeufsTer82,ENST00000539875,NM_001330769.1;PLCZ1,frameshift_variant,p.Ile80LeufsTer82,ENST00000540421,;PLCZ1,frameshift_variant,p.Ile86LeufsTer?,ENST00000543242,;PLCZ1,upstream_gene_variant,,ENST00000534932,;PLCZ1,upstream_gene_variant,,ENST00000536023,;PLCZ1,downstream_gene_variant,,ENST00000539072,;PLCZ1,non_coding_transcript_exon_variant,,ENST00000542762,;PLCZ1,frameshift_variant,p.Ile217LeufsTer82,ENST00000540270,;PLCZ1,3_prime_UTR_variant,,ENST00000318197,;PLCZ1,non_coding_transcript_exon_variant,,ENST00000540515,;PLCZ1,upstream_gene_variant,,ENST00000543219,; - ENSG00000139151 ENST00000648272 Transcript frameshift_variant 1463/2320 1156/1950 386/649 I/X Att/tt 1 NA -1 PLCZ1 HGNC HGNC:19218 protein_coding YES ENSP00000497636 A0A3B3ISW9.9 UPI000004EEA0 9/14 Low_complexity_(Seg):seg,CDD:cd08595,PANTHER:PTHR10336:SF29,PANTHER:PTHR10336,Gene3D:3.20.20.190,Superfamily:SSF51695 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion NA NA NA 1 . AATT . 516.6 NA NA NA NA NA NA NA NA NA 18699934 PDE3A 5139 . GRCh38 chr12 20616240 20616240 + Missense_Mutation SNP G G T NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1280G>T p.Arg427Met p.R427M ENST00000359062 4/16 NA NA NA NA NA NA PDE3A,missense_variant,p.Arg427Met,ENST00000359062,NM_001378408.1,NM_000921.5,NM_001378407.1,NM_001244683.2,NM_001378409.1;PDE3A,non_coding_transcript_exon_variant,,ENST00000544307,; T ENSG00000172572 ENST00000359062 Transcript missense_variant 2028/12486 1280/3426 427/1141 R/M aGg/aTg COSV62984777 1 NA 1 PDE3A HGNC HGNC:8778 protein_coding YES CCDS31754.1 ENSP00000351957 Q14432.181 UPI000014175F NM_001378408.1,NM_000921.5,NM_001378407.1,NM_001244683.2,NM_001378409.1 deleterious(0) probably_damaging(0.968) 4/16 PANTHER:PTHR11347,PANTHER:PTHR11347:SF104,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA 1 NA NA NA NA MODERATE 1 SNV 1 NA 1 NA 1 . AGG . 678.6 NA NA NA NA NA NA NA NA NA 20616240 C2CD5 9847 . GRCh38 chr12 22506791 22506791 + Missense_Mutation SNP A A C novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1040T>G p.Phe347Cys p.F347C ENST00000545552 10/28 NA NA NA NA NA NA C2CD5,missense_variant,p.Phe356Cys,ENST00000333957,NM_014802.2;C2CD5,missense_variant,p.Phe358Cys,ENST00000536386,NM_001286173.1;C2CD5,missense_variant,p.Phe356Cys,ENST00000446597,NM_001286176.1;C2CD5,missense_variant,p.Phe347Cys,ENST00000545552,NM_001286175.1;C2CD5,missense_variant,p.Phe347Cys,ENST00000396028,NM_001286177.1;C2CD5,missense_variant,p.Phe356Cys,ENST00000542676,NM_001286174.2;C2CD5,missense_variant,p.Phe32Cys,ENST00000535555,;AC053513.1,intron_variant,,ENST00000508615,;AC053513.1,intron_variant,,ENST00000661495,;C2CD5,non_coding_transcript_exon_variant,,ENST00000543855,;C2CD5,non_coding_transcript_exon_variant,,ENST00000541310,;C2CD5,non_coding_transcript_exon_variant,,ENST00000543797,;C2CD5,intron_variant,,ENST00000542683,; C ENSG00000111731 ENST00000545552 Transcript missense_variant 1242/3471 1040/3165 347/1054 F/C tTt/tGt 1 NA -1 C2CD5 HGNC HGNC:29062 protein_coding YES CCDS66339.1 ENSP00000443204 Q86YS7.147 UPI000204AC3E NM_001286175.1 deleterious(0) probably_damaging(0.976) 10/28 PANTHER:PTHR37412 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 2 NA NA NA . AAA . 1020.6 NA NA NA NA NA NA NA NA NA 22506791 CFAP94 55259 . GRCh38 chr12 25147095 25147095 + Missense_Mutation SNP T T C novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.595A>G p.Thr199Ala p.T199A ENST00000395987 8/16 NA NA NA NA NA NA CFAP94,missense_variant,p.Thr199Ala,ENST00000395987,NM_001352063.2,NM_018272.5;CFAP94,missense_variant,p.Thr257Ala,ENST00000354189,NM_001082972.3;CFAP94,missense_variant,p.Thr153Ala,ENST00000395990,NM_001352061.2,NM_001319978.2,NM_001204102.3;CFAP94,missense_variant,p.Thr193Ala,ENST00000320267,NM_001352064.2,NM_001352062.2,NM_001082973.3;CFAP94,missense_variant,p.Thr134Ala,ENST00000545133,NM_001352067.2,NM_001204101.3,NM_001319977.2,NM_001352065.2;CFAP94,missense_variant,p.Thr153Ala,ENST00000676236,NM_001352066.2;CFAP94,missense_variant,p.Thr153Ala,ENST00000674567,NM_001352068.2;CFAP94,intron_variant,,ENST00000556006,;CFAP94,intron_variant,,ENST00000555554,;CFAP94,missense_variant,p.Thr193Ala,ENST00000557684,;CFAP94,3_prime_UTR_variant,,ENST00000554533,;CFAP94,downstream_gene_variant,,ENST00000556467,;CFAP94,downstream_gene_variant,,ENST00000556547,; C ENSG00000118307 ENST00000395987 Transcript missense_variant 677/2510 595/2169 199/722 T/A Act/Gct 1 NA -1 CFAP94 HGNC HGNC:29599 protein_coding YES CCDS31759.2 ENSP00000379310 F8W8F9.56 UPI00001FB7A4 NM_001352063.2,NM_018272.5 tolerated(0.29) benign(0.173) 8/16 Pfam:PF15927,PANTHER:PTHR20929 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . GTA . 2705.6 NA NA NA NA NA NA NA NA NA 25147095 C12orf40 283461 . GRCh38 chr12 39720857 39720857 + Frame_Shift_Del DEL A A - novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1570del p.Met524Ter p.M524* ENST00000324616 13/13 NA NA NA NA NA NA C12orf40,frameshift_variant,p.Met524Ter,ENST00000324616,NM_001031748.4;C12orf40,intron_variant,,ENST00000468200,; - ENSG00000180116 ENST00000324616 Transcript frameshift_variant 1719/2776 1565/1959 522/652 E/X gAa/ga 1 NA 1 C12orf40 HGNC HGNC:26846 protein_coding YES CCDS41770.1 ENSP00000317671 Q86WS4.116 UPI000069A925 NM_001031748.4 13/13 Pfam:PF15089,PANTHER:PTHR35158 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 5 NA NA . GGAA . 649.6 NA NA NA NA NA NA NA NA NA 39720856 SLC2A13 114134 . GRCh38 chr12 40028449 40028450 + Frame_Shift_Ins INS - - A novel NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.776dup p.Leu259PhefsTer3 p.L259Ffs*3 ENST00000280871 3/10 NA NA NA NA NA NA SLC2A13,frameshift_variant,p.Leu259PhefsTer3,ENST00000280871,NM_052885.4;SLC2A13,frameshift_variant,p.Leu259PhefsTer3,ENST00000380858,; A ENSG00000151229 ENST00000280871 Transcript frameshift_variant 1049-1050/7221 776-777/1947 259/648 L/FX ttg/ttTg 1 NA -1 SLC2A13 HGNC HGNC:15956 protein_coding YES CCDS8736.2 ENSP00000280871 Q96QE2.160 UPI000066D913 NM_052885.4 3/10 Gene3D:1.20.1250.20,Pfam:PF00083,PROSITE_profiles:PS50850,PANTHER:PTHR23500,PANTHER:PTHR23500:SF198,Superfamily:SSF103473,TIGRFAM:TIGR00879,Transmembrane_helices:TMhelix,CDD:cd17360 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 insertion 1 NA NA NA . GCA . 2533.64 NA NA NA NA NA NA NA NA NA 40028449 MUC19 283463 . GRCh38 chr12 40514391 40514391 + Splice_Region SNP T T G rs76268289 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA n.19918T>G ENST00000454784 85/173 NA NA NA NA NA NA MUC19,splice_region_variant,,ENST00000454784,NM_173600.2; G ENSG00000205592 ENST00000454784 Transcript splice_region_variant,non_coding_transcript_exon_variant 19918/24829 rs76268289 1 NA 1 MUC19 HGNC HGNC:14362 processed_transcript NM_173600.2 85/173 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . GTG . 496.6 NA NA NA NA NA NA NA NA NA 40514391 ARID2 196528 . GRCh38 chr12 45893704 45893704 + Silent SNP T T C novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.5346T>C p.Tyr1782= p.Y1782= ENST00000334344 20/21 NA NA NA NA NA NA ARID2,synonymous_variant,p.Tyr1782=,ENST00000334344,NM_152641.4;ARID2,synonymous_variant,p.Tyr1392=,ENST00000444670,;ARID2,synonymous_variant,p.Tyr1756=,ENST00000422737,NM_001347839.1;ARID2,synonymous_variant,p.Tyr390=,ENST00000457135,;ARID2,3_prime_UTR_variant,,ENST00000477947,;ARID2,non_coding_transcript_exon_variant,,ENST00000479608,; C ENSG00000189079 ENST00000334344 Transcript synonymous_variant 5477/8598 5346/5508 1782/1835 Y taT/taC 1 NA 1 ARID2 HGNC HGNC:18037 protein_coding YES CCDS31783.1 ENSP00000335044 Q68CP9.158 UPI00001D7973 NM_152641.4 20/21 PANTHER:PTHR22970 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . ATT . 40.6 NA NA NA NA NA NA NA NA NA 45893704 ARID2 196528 . GRCh38 chr12 45893710 45893710 + Silent SNP A A G novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.5352A>G p.Glu1784= p.E1784= ENST00000334344 20/21 NA NA NA NA NA NA ARID2,synonymous_variant,p.Glu1784=,ENST00000334344,NM_152641.4;ARID2,synonymous_variant,p.Glu1394=,ENST00000444670,;ARID2,synonymous_variant,p.Glu1758=,ENST00000422737,NM_001347839.1;ARID2,synonymous_variant,p.Glu392=,ENST00000457135,;ARID2,3_prime_UTR_variant,,ENST00000477947,;ARID2,non_coding_transcript_exon_variant,,ENST00000479608,; G ENSG00000189079 ENST00000334344 Transcript synonymous_variant 5483/8598 5352/5508 1784/1835 E gaA/gaG 1 NA 1 ARID2 HGNC HGNC:18037 protein_coding YES CCDS31783.1 ENSP00000335044 Q68CP9.158 UPI00001D7973 NM_152641.4 20/21 PANTHER:PTHR22970 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . AAT . 43.6 NA NA NA NA NA NA NA NA NA 45893710 ARID2 196528 . GRCh38 chr12 45893716 45893716 + Silent SNP T T G novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.5358T>G p.Gly1786= p.G1786= ENST00000334344 20/21 NA NA NA NA NA NA ARID2,synonymous_variant,p.Gly1786=,ENST00000334344,NM_152641.4;ARID2,synonymous_variant,p.Gly1396=,ENST00000444670,;ARID2,synonymous_variant,p.Gly1760=,ENST00000422737,NM_001347839.1;ARID2,synonymous_variant,p.Gly394=,ENST00000457135,;ARID2,3_prime_UTR_variant,,ENST00000477947,;ARID2,non_coding_transcript_exon_variant,,ENST00000479608,; G ENSG00000189079 ENST00000334344 Transcript synonymous_variant 5489/8598 5358/5508 1786/1835 G ggT/ggG 1 NA 1 ARID2 HGNC HGNC:18037 protein_coding YES CCDS31783.1 ENSP00000335044 Q68CP9.158 UPI00001D7973 NM_152641.4 20/21 PANTHER:PTHR22970 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . GTC . 49.6 NA NA NA NA NA NA NA NA NA 45893716 SLC38A1 81539 . GRCh38 chr12 46196164 46196164 + Frame_Shift_Del DEL A A - rs760866829 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1475del p.Leu492CysfsTer19 p.L492Cfs*19 ENST00000552197 17/17 NA NA NA NA NA NA SLC38A1,frameshift_variant,p.Leu492CysfsTer19,ENST00000552197,NM_001278390.1;SLC38A1,frameshift_variant,p.Leu492CysfsTer?,ENST00000612161,;SLC38A1,intron_variant,,ENST00000398637,NM_001077484.2,NM_030674.4,NM_001278389.2;SLC38A1,intron_variant,,ENST00000439706,NM_001278387.2;SLC38A1,intron_variant,,ENST00000546893,;SLC38A1,intron_variant,,ENST00000549049,NM_001278388.2;SLC38A1,downstream_gene_variant,,ENST00000549633,;SLC38A1,downstream_gene_variant,,ENST00000548979,; - ENSG00000111371 ENST00000552197 Transcript frameshift_variant 2160/2599 1475/1512 492/503 L/X tTg/tg rs760866829 1 NA -1 SLC38A1 HGNC HGNC:13447 protein_coding YES CCDS61106.1 ENSP00000449756 F8VX04.76 UPI00018923FA NM_001278390.1 17/17 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 NA NA NA . ACAA . 2981.6 5.966e-05 NA NA NA NA NA 0.0001527 NA NA 46196163 VDR 7421 . GRCh38 chr12 47865099 47865099 + Missense_Mutation SNP G G C novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.225C>G p.His75Gln p.H75Q ENST00000229022 2/8 NA NA NA NA NA NA VDR,missense_variant,p.His75Gln,ENST00000395324,;VDR,missense_variant,p.His75Gln,ENST00000549336,NM_001374662.1,NM_000376.3,NM_001017535.2,NM_001374661.1;VDR,missense_variant,p.His125Gln,ENST00000550325,NM_001017536.2;VDR,missense_variant,p.His75Gln,ENST00000229022,NM_001364085.2;VDR,missense_variant,p.His75Gln,ENST00000546653,;VDR,missense_variant,p.His75Gln,ENST00000548664,;VDR,missense_variant,p.His75Gln,ENST00000550314,;VDR,3_prime_UTR_variant,,ENST00000547065,; C ENSG00000111424 ENST00000229022 Transcript missense_variant 227/3404 225/1485 75/494 H/Q caC/caG 1 NA -1 VDR HGNC HGNC:12679 protein_coding YES ENSP00000229022 A0A5K1VW50.2 UPI000D725243 NM_001364085.2 tolerated(0.6) benign(0.015) 2/8 PDB-ENSP_mappings:1kb2.A,PDB-ENSP_mappings:1kb2.B,PDB-ENSP_mappings:1kb4.A,PDB-ENSP_mappings:1kb4.B,PDB-ENSP_mappings:1kb6.A,PDB-ENSP_mappings:1kb6.B,PDB-ENSP_mappings:1ynw.A,Gene3D:3.30.50.10,Pfam:PF00105,Prints:PR00047,PROSITE_profiles:PS51030,PANTHER:PTHR24084,PANTHER:PTHR24084:SF31,SMART:SM00399,Superfamily:SSF57716,CDD:cd06955 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA 1 . AGT . 4292.6 NA NA NA NA NA NA NA NA NA 47865099 KMT2D 8085 . GRCh38 chr12 49031726 49031727 + Frame_Shift_Ins INS - - G novel NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.12978dup p.Ser4327GlnfsTer7 p.S4327Qfs*7 ENST00000301067 40/55 NA NA NA NA NA NA KMT2D,frameshift_variant,p.Ser4327GlnfsTer7,ENST00000301067,NM_003482.4;KMT2D,downstream_gene_variant,,ENST00000549743,;KMT2D,upstream_gene_variant,,ENST00000552391,; G ENSG00000167548 ENST00000301067 Transcript frameshift_variant 14197-14198/20635 12978-12979/16614 4326-4327/5537 -/X -/C 1 NA -1 KMT2D HGNC HGNC:7133 protein_coding YES CCDS44873.1 ENSP00000301067 O14686.191 UPI0000EE84D6 NM_003482.4 40/55 PANTHER:PTHR45888,PANTHER:PTHR45888:SF2,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 insertion 5 NA NA 1 . CTG . 9027.64 NA NA NA NA NA NA NA NA NA 49031726 TUBA1B 10376 . GRCh38 chr12 49128126 49128126 + Silent SNP G G A rs767206329 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1188C>T p.Asp396= p.D396= ENST00000336023 4/4 NA NA NA NA NA NA TUBA1B,synonymous_variant,p.Asp396=,ENST00000336023,NM_006082.3;TUBA1B,downstream_gene_variant,,ENST00000547476,;TUBA1B,downstream_gene_variant,,ENST00000549870,;TUBA1B,downstream_gene_variant,,ENST00000550367,;TUBA1B,downstream_gene_variant,,ENST00000552984,;AC011603.2,non_coding_transcript_exon_variant,,ENST00000547387,;AC011603.2,non_coding_transcript_exon_variant,,ENST00000548149,;AC011603.2,non_coding_transcript_exon_variant,,ENST00000552893,;AC011603.2,upstream_gene_variant,,ENST00000547712,;AC011603.2,upstream_gene_variant,,ENST00000551496,;AC011603.2,upstream_gene_variant,,ENST00000656133,;AC011603.2,upstream_gene_variant,,ENST00000664160,;AC011603.2,upstream_gene_variant,,ENST00000665211,;Y_RNA,downstream_gene_variant,,ENST00000363439,;TUBA1B,3_prime_UTR_variant,,ENST00000547765,;TUBA1B,non_coding_transcript_exon_variant,,ENST00000332858,;TUBA1B,downstream_gene_variant,,ENST00000551324,; A ENSG00000123416 ENST00000336023 Transcript synonymous_variant 1283/1627 1188/1356 396/451 D gaC/gaT rs767206329 1 NA -1 TUBA1B HGNC HGNC:18809 protein_coding YES CCDS31792.1 ENSP00000336799 P68363.171 UPI00000015EA NM_006082.3 4/4 Gene3D:1.10.287.600,PDB-ENSP_mappings:5ij0.A,PDB-ENSP_mappings:5ij9.A,PDB-ENSP_mappings:5n5n.G,PDB-ENSP_mappings:5n5n.H,PDB-ENSP_mappings:5n5n.I,PDB-ENSP_mappings:5n5n.J,PDB-ENSP_mappings:5n5n.K,PDB-ENSP_mappings:5n5n.L,PDB-ENSP_mappings:6e7b.A,PDB-ENSP_mappings:6e7c.A,PDB-ENSP_mappings:6i2i.A,PDB-ENSP_mappings:6qus.O,PDB-ENSP_mappings:6qus.X,PDB-ENSP_mappings:6quy.A,PDB-ENSP_mappings:6quy.C,PDB-ENSP_mappings:6qve.A,PDB-ENSP_mappings:6qve.C,PDB-ENSP_mappings:6qvj.O,PDB-ENSP_mappings:6qvj.X,PDB-ENSP_mappings:6s8l.A,Prints:PR01161,Prints:PR01162,PANTHER:PTHR11588,PANTHER:PTHR11588:SF292,Superfamily:SSF55307,CDD:cd02186 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . GGT . 411.6 3.984e-06 NA NA NA NA NA 8.806e-06 NA NA 49128126 TUBA1B 10376 . GRCh38 chr12 49128138 49128138 + Silent SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1176C>T p.Asp392= p.D392= ENST00000336023 4/4 NA NA NA NA NA NA TUBA1B,synonymous_variant,p.Asp392=,ENST00000336023,NM_006082.3;TUBA1B,downstream_gene_variant,,ENST00000547476,;TUBA1B,downstream_gene_variant,,ENST00000549870,;TUBA1B,downstream_gene_variant,,ENST00000550367,;TUBA1B,downstream_gene_variant,,ENST00000552984,;AC011603.2,non_coding_transcript_exon_variant,,ENST00000547387,;AC011603.2,non_coding_transcript_exon_variant,,ENST00000548149,;AC011603.2,non_coding_transcript_exon_variant,,ENST00000552893,;AC011603.2,upstream_gene_variant,,ENST00000547712,;AC011603.2,upstream_gene_variant,,ENST00000551496,;AC011603.2,upstream_gene_variant,,ENST00000656133,;AC011603.2,upstream_gene_variant,,ENST00000664160,;AC011603.2,upstream_gene_variant,,ENST00000665211,;Y_RNA,downstream_gene_variant,,ENST00000363439,;TUBA1B,3_prime_UTR_variant,,ENST00000547765,;TUBA1B,non_coding_transcript_exon_variant,,ENST00000332858,;TUBA1B,downstream_gene_variant,,ENST00000551324,; A ENSG00000123416 ENST00000336023 Transcript synonymous_variant 1271/1627 1176/1356 392/451 D gaC/gaT 1 NA -1 TUBA1B HGNC HGNC:18809 protein_coding YES CCDS31792.1 ENSP00000336799 P68363.171 UPI00000015EA NM_006082.3 4/4 Gene3D:1.10.287.600,PDB-ENSP_mappings:5ij0.A,PDB-ENSP_mappings:5ij9.A,PDB-ENSP_mappings:5n5n.G,PDB-ENSP_mappings:5n5n.H,PDB-ENSP_mappings:5n5n.I,PDB-ENSP_mappings:5n5n.J,PDB-ENSP_mappings:5n5n.K,PDB-ENSP_mappings:5n5n.L,PDB-ENSP_mappings:6e7b.A,PDB-ENSP_mappings:6e7c.A,PDB-ENSP_mappings:6i2i.A,PDB-ENSP_mappings:6qus.O,PDB-ENSP_mappings:6qus.X,PDB-ENSP_mappings:6quy.A,PDB-ENSP_mappings:6quy.C,PDB-ENSP_mappings:6qve.A,PDB-ENSP_mappings:6qve.C,PDB-ENSP_mappings:6qvj.O,PDB-ENSP_mappings:6qvj.X,PDB-ENSP_mappings:6s8l.A,Pfam:PF03953,Prints:PR01161,Prints:PR01162,PANTHER:PTHR11588,PANTHER:PTHR11588:SF292,SMART:SM00865,Superfamily:SSF55307,CDD:cd02186 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . GGT . 534.64 NA NA NA NA NA NA NA NA NA 49128138 TUBA1B 10376 . GRCh38 chr12 49128141 49128141 + Silent SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1173G>A p.Leu391= p.L391= ENST00000336023 4/4 NA NA NA NA NA NA TUBA1B,synonymous_variant,p.Leu391=,ENST00000336023,NM_006082.3;TUBA1B,downstream_gene_variant,,ENST00000547476,;TUBA1B,downstream_gene_variant,,ENST00000549870,;TUBA1B,downstream_gene_variant,,ENST00000550367,;TUBA1B,downstream_gene_variant,,ENST00000552984,;AC011603.2,non_coding_transcript_exon_variant,,ENST00000547387,;AC011603.2,non_coding_transcript_exon_variant,,ENST00000548149,;AC011603.2,non_coding_transcript_exon_variant,,ENST00000552893,;AC011603.2,upstream_gene_variant,,ENST00000547712,;AC011603.2,upstream_gene_variant,,ENST00000551496,;AC011603.2,upstream_gene_variant,,ENST00000656133,;AC011603.2,upstream_gene_variant,,ENST00000664160,;AC011603.2,upstream_gene_variant,,ENST00000665211,;Y_RNA,downstream_gene_variant,,ENST00000363439,;TUBA1B,3_prime_UTR_variant,,ENST00000547765,;TUBA1B,non_coding_transcript_exon_variant,,ENST00000332858,;TUBA1B,downstream_gene_variant,,ENST00000551324,; T ENSG00000123416 ENST00000336023 Transcript synonymous_variant 1268/1627 1173/1356 391/451 L ctG/ctA 1 NA -1 TUBA1B HGNC HGNC:18809 protein_coding YES CCDS31792.1 ENSP00000336799 P68363.171 UPI00000015EA NM_006082.3 4/4 Gene3D:1.10.287.600,PDB-ENSP_mappings:5ij0.A,PDB-ENSP_mappings:5ij9.A,PDB-ENSP_mappings:5n5n.G,PDB-ENSP_mappings:5n5n.H,PDB-ENSP_mappings:5n5n.I,PDB-ENSP_mappings:5n5n.J,PDB-ENSP_mappings:5n5n.K,PDB-ENSP_mappings:5n5n.L,PDB-ENSP_mappings:6e7b.A,PDB-ENSP_mappings:6e7c.A,PDB-ENSP_mappings:6i2i.A,PDB-ENSP_mappings:6qus.O,PDB-ENSP_mappings:6qus.X,PDB-ENSP_mappings:6quy.A,PDB-ENSP_mappings:6quy.C,PDB-ENSP_mappings:6qve.A,PDB-ENSP_mappings:6qve.C,PDB-ENSP_mappings:6qvj.O,PDB-ENSP_mappings:6qvj.X,PDB-ENSP_mappings:6s8l.A,Pfam:PF03953,Prints:PR01161,Prints:PR01162,PANTHER:PTHR11588,PANTHER:PTHR11588:SF292,SMART:SM00865,Superfamily:SSF55307,CDD:cd02186 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . CCA . 314.6 NA NA NA NA NA NA NA NA NA 49128141 TUBA1B 10376 . GRCh38 chr12 49128201 49128201 + Silent SNP T T C rs1373994525 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1113A>G p.Val371= p.V371= ENST00000336023 4/4 NA NA NA NA NA NA TUBA1B,synonymous_variant,p.Val371=,ENST00000336023,NM_006082.3;TUBA1B,downstream_gene_variant,,ENST00000547476,;TUBA1B,downstream_gene_variant,,ENST00000549870,;TUBA1B,downstream_gene_variant,,ENST00000550367,;TUBA1B,downstream_gene_variant,,ENST00000552984,;AC011603.2,non_coding_transcript_exon_variant,,ENST00000547387,;AC011603.2,non_coding_transcript_exon_variant,,ENST00000548149,;AC011603.2,non_coding_transcript_exon_variant,,ENST00000552893,;AC011603.2,upstream_gene_variant,,ENST00000547712,;AC011603.2,upstream_gene_variant,,ENST00000551496,;AC011603.2,upstream_gene_variant,,ENST00000656133,;AC011603.2,upstream_gene_variant,,ENST00000664160,;AC011603.2,upstream_gene_variant,,ENST00000665211,;Y_RNA,downstream_gene_variant,,ENST00000363439,;TUBA1B,3_prime_UTR_variant,,ENST00000547765,;TUBA1B,non_coding_transcript_exon_variant,,ENST00000332858,;TUBA1B,downstream_gene_variant,,ENST00000551324,; C ENSG00000123416 ENST00000336023 Transcript synonymous_variant 1208/1627 1113/1356 371/451 V gtA/gtG rs1373994525,COSV60136967 1 NA -1 TUBA1B HGNC HGNC:18809 protein_coding YES CCDS31792.1 ENSP00000336799 P68363.171 UPI00000015EA NM_006082.3 4/4 Gene3D:3.30.1330.20,PDB-ENSP_mappings:5ij0.A,PDB-ENSP_mappings:5ij9.A,PDB-ENSP_mappings:5n5n.G,PDB-ENSP_mappings:5n5n.H,PDB-ENSP_mappings:5n5n.I,PDB-ENSP_mappings:5n5n.J,PDB-ENSP_mappings:5n5n.K,PDB-ENSP_mappings:5n5n.L,PDB-ENSP_mappings:6e7b.A,PDB-ENSP_mappings:6e7c.A,PDB-ENSP_mappings:6i2i.A,PDB-ENSP_mappings:6qus.O,PDB-ENSP_mappings:6qus.X,PDB-ENSP_mappings:6quy.A,PDB-ENSP_mappings:6quy.C,PDB-ENSP_mappings:6qve.A,PDB-ENSP_mappings:6qve.C,PDB-ENSP_mappings:6qvj.O,PDB-ENSP_mappings:6qvj.X,PDB-ENSP_mappings:6s8l.A,Pfam:PF03953,Prints:PR01162,PANTHER:PTHR11588,PANTHER:PTHR11588:SF292,SMART:SM00865,Superfamily:SSF55307,CDD:cd02186 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA LOW 1 SNV 1 NA 0,1 NA NA . GTA . 87.6 3.987e-06 NA NA NA NA NA 8.821e-06 NA NA 49128201 TUBA1B 10376 . GRCh38 chr12 49128216 49128216 + Silent SNP T T A novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1098A>T p.Gly366= p.G366= ENST00000336023 4/4 NA NA NA NA NA NA TUBA1B,synonymous_variant,p.Gly366=,ENST00000336023,NM_006082.3;TUBA1B,downstream_gene_variant,,ENST00000547476,;TUBA1B,downstream_gene_variant,,ENST00000549870,;TUBA1B,downstream_gene_variant,,ENST00000550367,;TUBA1B,downstream_gene_variant,,ENST00000552984,;AC011603.2,splice_region_variant,,ENST00000548149,;AC011603.2,non_coding_transcript_exon_variant,,ENST00000547387,;AC011603.2,intron_variant,,ENST00000552893,;AC011603.2,upstream_gene_variant,,ENST00000547712,;AC011603.2,upstream_gene_variant,,ENST00000551496,;AC011603.2,upstream_gene_variant,,ENST00000656133,;AC011603.2,upstream_gene_variant,,ENST00000664160,;AC011603.2,upstream_gene_variant,,ENST00000665211,;Y_RNA,downstream_gene_variant,,ENST00000363439,;TUBA1B,3_prime_UTR_variant,,ENST00000547765,;TUBA1B,non_coding_transcript_exon_variant,,ENST00000332858,;TUBA1B,downstream_gene_variant,,ENST00000551324,; A ENSG00000123416 ENST00000336023 Transcript synonymous_variant 1193/1627 1098/1356 366/451 G ggA/ggT 1 NA -1 TUBA1B HGNC HGNC:18809 protein_coding YES CCDS31792.1 ENSP00000336799 P68363.171 UPI00000015EA NM_006082.3 4/4 Gene3D:3.30.1330.20,PDB-ENSP_mappings:5ij0.A,PDB-ENSP_mappings:5ij9.A,PDB-ENSP_mappings:5n5n.G,PDB-ENSP_mappings:5n5n.H,PDB-ENSP_mappings:5n5n.I,PDB-ENSP_mappings:5n5n.J,PDB-ENSP_mappings:5n5n.K,PDB-ENSP_mappings:5n5n.L,PDB-ENSP_mappings:6e7b.A,PDB-ENSP_mappings:6e7c.A,PDB-ENSP_mappings:6i2i.A,PDB-ENSP_mappings:6qus.O,PDB-ENSP_mappings:6qus.X,PDB-ENSP_mappings:6quy.A,PDB-ENSP_mappings:6quy.C,PDB-ENSP_mappings:6qve.A,PDB-ENSP_mappings:6qve.C,PDB-ENSP_mappings:6qvj.O,PDB-ENSP_mappings:6qvj.X,PDB-ENSP_mappings:6s8l.A,Pfam:PF03953,Prints:PR01162,PANTHER:PTHR11588,PANTHER:PTHR11588:SF292,SMART:SM00865,Superfamily:SSF55307,CDD:cd02186 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . CTC . 141.6 NA NA NA NA NA NA NA NA NA 49128216 TUBA1B 10376 . GRCh38 chr12 49128525 49128525 + Silent SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.789C>T p.Pro263= p.P263= ENST00000336023 4/4 NA NA NA NA NA NA TUBA1B,synonymous_variant,p.Pro263=,ENST00000336023,NM_006082.3;TUBA1B,synonymous_variant,p.Pro223=,ENST00000550367,;TUBA1B,downstream_gene_variant,,ENST00000547476,;TUBA1B,downstream_gene_variant,,ENST00000549870,;TUBA1B,downstream_gene_variant,,ENST00000552984,;AC011603.2,non_coding_transcript_exon_variant,,ENST00000547387,;AC011603.2,intron_variant,,ENST00000548149,;AC011603.2,intron_variant,,ENST00000552893,;AC011603.2,upstream_gene_variant,,ENST00000547712,;AC011603.2,upstream_gene_variant,,ENST00000551496,;AC011603.2,upstream_gene_variant,,ENST00000656133,;AC011603.2,upstream_gene_variant,,ENST00000664160,;AC011603.2,upstream_gene_variant,,ENST00000665211,;Y_RNA,downstream_gene_variant,,ENST00000363439,;TUBA1B,3_prime_UTR_variant,,ENST00000547765,;TUBA1B,non_coding_transcript_exon_variant,,ENST00000332858,;TUBA1B,downstream_gene_variant,,ENST00000551324,; A ENSG00000123416 ENST00000336023 Transcript synonymous_variant 884/1627 789/1356 263/451 P ccC/ccT 1 NA -1 TUBA1B HGNC HGNC:18809 protein_coding YES CCDS31792.1 ENSP00000336799 P68363.171 UPI00000015EA NM_006082.3 4/4 Gene3D:3.40.50.1440,PDB-ENSP_mappings:5ij0.A,PDB-ENSP_mappings:5ij9.A,PDB-ENSP_mappings:5n5n.G,PDB-ENSP_mappings:5n5n.H,PDB-ENSP_mappings:5n5n.I,PDB-ENSP_mappings:5n5n.J,PDB-ENSP_mappings:5n5n.K,PDB-ENSP_mappings:5n5n.L,PDB-ENSP_mappings:6e7b.A,PDB-ENSP_mappings:6e7c.A,PDB-ENSP_mappings:6i2i.A,PDB-ENSP_mappings:6qus.O,PDB-ENSP_mappings:6qus.X,PDB-ENSP_mappings:6quy.A,PDB-ENSP_mappings:6quy.C,PDB-ENSP_mappings:6qve.A,PDB-ENSP_mappings:6qve.C,PDB-ENSP_mappings:6qvj.O,PDB-ENSP_mappings:6qvj.X,PDB-ENSP_mappings:6s8l.A,Pfam:PF03953,PANTHER:PTHR11588,PANTHER:PTHR11588:SF292,SMART:SM00865,Superfamily:SSF55307,CDD:cd02186 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . GGG . 206.6 NA NA NA NA NA NA NA NA NA 49128525 TUBA1B 10376 . GRCh38 chr12 49128534 49128534 + Silent SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.780G>A p.Val260= p.V260= ENST00000336023 4/4 NA NA NA NA NA NA TUBA1B,synonymous_variant,p.Val260=,ENST00000336023,NM_006082.3;TUBA1B,synonymous_variant,p.Val220=,ENST00000550367,;TUBA1B,downstream_gene_variant,,ENST00000547476,;TUBA1B,downstream_gene_variant,,ENST00000549870,;TUBA1B,downstream_gene_variant,,ENST00000552984,;AC011603.2,non_coding_transcript_exon_variant,,ENST00000547387,;AC011603.2,intron_variant,,ENST00000548149,;AC011603.2,intron_variant,,ENST00000552893,;AC011603.2,upstream_gene_variant,,ENST00000547712,;AC011603.2,upstream_gene_variant,,ENST00000551496,;AC011603.2,upstream_gene_variant,,ENST00000656133,;AC011603.2,upstream_gene_variant,,ENST00000664160,;AC011603.2,upstream_gene_variant,,ENST00000665211,;Y_RNA,downstream_gene_variant,,ENST00000363439,;TUBA1B,3_prime_UTR_variant,,ENST00000547765,;TUBA1B,non_coding_transcript_exon_variant,,ENST00000332858,;TUBA1B,downstream_gene_variant,,ENST00000551324,; T ENSG00000123416 ENST00000336023 Transcript synonymous_variant 875/1627 780/1356 260/451 V gtG/gtA 1 NA -1 TUBA1B HGNC HGNC:18809 protein_coding YES CCDS31792.1 ENSP00000336799 P68363.171 UPI00000015EA NM_006082.3 4/4 Gene3D:3.40.50.1440,PDB-ENSP_mappings:5ij0.A,PDB-ENSP_mappings:5ij9.A,PDB-ENSP_mappings:5n5n.G,PDB-ENSP_mappings:5n5n.H,PDB-ENSP_mappings:5n5n.I,PDB-ENSP_mappings:5n5n.J,PDB-ENSP_mappings:5n5n.K,PDB-ENSP_mappings:5n5n.L,PDB-ENSP_mappings:6e7b.A,PDB-ENSP_mappings:6e7c.A,PDB-ENSP_mappings:6i2i.A,PDB-ENSP_mappings:6qus.O,PDB-ENSP_mappings:6qus.X,PDB-ENSP_mappings:6quy.A,PDB-ENSP_mappings:6quy.C,PDB-ENSP_mappings:6qve.A,PDB-ENSP_mappings:6qve.C,PDB-ENSP_mappings:6qvj.O,PDB-ENSP_mappings:6qvj.X,PDB-ENSP_mappings:6s8l.A,PANTHER:PTHR11588,PANTHER:PTHR11588:SF292,SMART:SM00865,Superfamily:SSF55307,CDD:cd02186 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . GCA . 230.6 NA NA NA NA NA NA NA NA NA 49128534 TUBA1B 10376 . GRCh38 chr12 49128576 49128576 + Silent SNP T T C novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.738A>G p.Gly246= p.G246= ENST00000336023 4/4 NA NA NA NA NA NA TUBA1B,synonymous_variant,p.Gly246=,ENST00000336023,NM_006082.3;TUBA1B,synonymous_variant,p.Gly206=,ENST00000550367,;TUBA1B,downstream_gene_variant,,ENST00000547476,;TUBA1B,downstream_gene_variant,,ENST00000549870,;TUBA1B,downstream_gene_variant,,ENST00000552984,;AC011603.2,non_coding_transcript_exon_variant,,ENST00000547387,;AC011603.2,intron_variant,,ENST00000548149,;AC011603.2,intron_variant,,ENST00000552893,;AC011603.2,upstream_gene_variant,,ENST00000547712,;AC011603.2,upstream_gene_variant,,ENST00000551496,;AC011603.2,upstream_gene_variant,,ENST00000656133,;AC011603.2,upstream_gene_variant,,ENST00000664160,;AC011603.2,upstream_gene_variant,,ENST00000665211,;Y_RNA,downstream_gene_variant,,ENST00000363439,;TUBA1B,3_prime_UTR_variant,,ENST00000547765,;TUBA1B,non_coding_transcript_exon_variant,,ENST00000332858,;TUBA1B,downstream_gene_variant,,ENST00000551324,; C ENSG00000123416 ENST00000336023 Transcript synonymous_variant 833/1627 738/1356 246/451 G ggA/ggG 1 NA -1 TUBA1B HGNC HGNC:18809 protein_coding YES CCDS31792.1 ENSP00000336799 P68363.171 UPI00000015EA NM_006082.3 4/4 Gene3D:3.40.50.1440,PDB-ENSP_mappings:5ij0.A,PDB-ENSP_mappings:5ij9.A,PDB-ENSP_mappings:5n5n.G,PDB-ENSP_mappings:5n5n.H,PDB-ENSP_mappings:5n5n.I,PDB-ENSP_mappings:5n5n.J,PDB-ENSP_mappings:5n5n.K,PDB-ENSP_mappings:5n5n.L,PDB-ENSP_mappings:6e7b.A,PDB-ENSP_mappings:6e7c.A,PDB-ENSP_mappings:6i2i.A,PDB-ENSP_mappings:6qus.O,PDB-ENSP_mappings:6qus.X,PDB-ENSP_mappings:6quy.A,PDB-ENSP_mappings:6quy.C,PDB-ENSP_mappings:6qve.A,PDB-ENSP_mappings:6qve.C,PDB-ENSP_mappings:6qvj.O,PDB-ENSP_mappings:6qvj.X,PDB-ENSP_mappings:6s8l.A,PANTHER:PTHR11588,PANTHER:PTHR11588:SF292,SMART:SM00864,Superfamily:SSF55307,CDD:cd02186 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . CTC . 219.6 NA NA NA NA NA NA NA NA NA 49128576 TUBA1B 10376 . GRCh38 chr12 49128588 49128588 + Silent SNP C C G novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.726G>C p.Leu242= p.L242= ENST00000336023 4/4 NA NA NA NA NA NA TUBA1B,synonymous_variant,p.Leu242=,ENST00000336023,NM_006082.3;TUBA1B,synonymous_variant,p.Leu202=,ENST00000550367,;TUBA1B,downstream_gene_variant,,ENST00000547476,;TUBA1B,downstream_gene_variant,,ENST00000549870,;TUBA1B,downstream_gene_variant,,ENST00000552984,;AC011603.2,non_coding_transcript_exon_variant,,ENST00000547387,;AC011603.2,intron_variant,,ENST00000548149,;AC011603.2,intron_variant,,ENST00000552893,;AC011603.2,upstream_gene_variant,,ENST00000547712,;AC011603.2,upstream_gene_variant,,ENST00000551496,;AC011603.2,upstream_gene_variant,,ENST00000656133,;AC011603.2,upstream_gene_variant,,ENST00000664160,;AC011603.2,upstream_gene_variant,,ENST00000665211,;Y_RNA,downstream_gene_variant,,ENST00000363439,;TUBA1B,3_prime_UTR_variant,,ENST00000547765,;TUBA1B,non_coding_transcript_exon_variant,,ENST00000332858,;TUBA1B,downstream_gene_variant,,ENST00000551324,; G ENSG00000123416 ENST00000336023 Transcript synonymous_variant 821/1627 726/1356 242/451 L ctG/ctC 1 NA -1 TUBA1B HGNC HGNC:18809 protein_coding YES CCDS31792.1 ENSP00000336799 P68363.171 UPI00000015EA NM_006082.3 4/4 Gene3D:3.40.50.1440,PDB-ENSP_mappings:5ij0.A,PDB-ENSP_mappings:5ij9.A,PDB-ENSP_mappings:5n5n.G,PDB-ENSP_mappings:5n5n.H,PDB-ENSP_mappings:5n5n.I,PDB-ENSP_mappings:5n5n.J,PDB-ENSP_mappings:5n5n.K,PDB-ENSP_mappings:5n5n.L,PDB-ENSP_mappings:6e7b.A,PDB-ENSP_mappings:6e7c.A,PDB-ENSP_mappings:6i2i.A,PDB-ENSP_mappings:6qus.O,PDB-ENSP_mappings:6qus.X,PDB-ENSP_mappings:6quy.A,PDB-ENSP_mappings:6quy.C,PDB-ENSP_mappings:6qve.A,PDB-ENSP_mappings:6qve.C,PDB-ENSP_mappings:6qvj.O,PDB-ENSP_mappings:6qvj.X,PDB-ENSP_mappings:6s8l.A,PANTHER:PTHR11588,PANTHER:PTHR11588:SF292,SMART:SM00864,Superfamily:SSF52490,CDD:cd02186 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . TCA . 93.6 NA NA NA NA NA NA NA NA NA 49128588 TUBA1B 10376 . GRCh38 chr12 49128639 49128639 + Silent SNP A A G rs1451624839 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.675T>C p.Thr225= p.T225= ENST00000336023 4/4 NA NA NA NA NA NA TUBA1B,synonymous_variant,p.Thr225=,ENST00000336023,NM_006082.3;TUBA1B,synonymous_variant,p.Thr185=,ENST00000550367,;TUBA1B,downstream_gene_variant,,ENST00000547476,;TUBA1B,downstream_gene_variant,,ENST00000549870,;TUBA1B,downstream_gene_variant,,ENST00000552984,;AC011603.2,non_coding_transcript_exon_variant,,ENST00000547387,;AC011603.2,non_coding_transcript_exon_variant,,ENST00000548149,;AC011603.2,non_coding_transcript_exon_variant,,ENST00000552893,;AC011603.2,upstream_gene_variant,,ENST00000547712,;AC011603.2,upstream_gene_variant,,ENST00000551496,;AC011603.2,upstream_gene_variant,,ENST00000656133,;AC011603.2,upstream_gene_variant,,ENST00000664160,;AC011603.2,upstream_gene_variant,,ENST00000665211,;Y_RNA,downstream_gene_variant,,ENST00000363439,;TUBA1B,3_prime_UTR_variant,,ENST00000547765,;TUBA1B,non_coding_transcript_exon_variant,,ENST00000332858,;TUBA1B,downstream_gene_variant,,ENST00000551324,;,regulatory_region_variant,,ENSR00000051578,; G ENSG00000123416 ENST00000336023 Transcript synonymous_variant 770/1627 675/1356 225/451 T acT/acC rs1451624839 1 NA -1 TUBA1B HGNC HGNC:18809 protein_coding YES CCDS31792.1 ENSP00000336799 P68363.171 UPI00000015EA NM_006082.3 4/4 Gene3D:3.40.50.1440,PDB-ENSP_mappings:5ij0.A,PDB-ENSP_mappings:5ij9.A,PDB-ENSP_mappings:5n5n.G,PDB-ENSP_mappings:5n5n.H,PDB-ENSP_mappings:5n5n.I,PDB-ENSP_mappings:5n5n.J,PDB-ENSP_mappings:5n5n.K,PDB-ENSP_mappings:5n5n.L,PDB-ENSP_mappings:6e7b.A,PDB-ENSP_mappings:6e7c.A,PDB-ENSP_mappings:6i2i.A,PDB-ENSP_mappings:6qus.O,PDB-ENSP_mappings:6qus.X,PDB-ENSP_mappings:6quy.A,PDB-ENSP_mappings:6quy.C,PDB-ENSP_mappings:6qve.A,PDB-ENSP_mappings:6qve.C,PDB-ENSP_mappings:6qvj.O,PDB-ENSP_mappings:6qvj.X,PDB-ENSP_mappings:6s8l.A,Prints:PR01162,PANTHER:PTHR11588,PANTHER:PTHR11588:SF292,SMART:SM00864,Superfamily:SSF52490,CDD:cd02186 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . TAG . 32.6 4.375e-06 NA NA NA NA NA 9.622e-06 NA NA 49128639 TUBA1B 10376 . GRCh38 chr12 49128660 49128660 + Silent SNP A A G novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.654T>C p.Asp218= p.D218= ENST00000336023 4/4 NA NA NA NA NA NA TUBA1B,synonymous_variant,p.Asp218=,ENST00000336023,NM_006082.3;TUBA1B,synonymous_variant,p.Asp178=,ENST00000550367,;TUBA1B,downstream_gene_variant,,ENST00000547476,;TUBA1B,downstream_gene_variant,,ENST00000549870,;TUBA1B,downstream_gene_variant,,ENST00000552984,;AC011603.2,non_coding_transcript_exon_variant,,ENST00000547387,;AC011603.2,non_coding_transcript_exon_variant,,ENST00000548149,;AC011603.2,non_coding_transcript_exon_variant,,ENST00000552893,;AC011603.2,upstream_gene_variant,,ENST00000547712,;AC011603.2,upstream_gene_variant,,ENST00000551496,;AC011603.2,upstream_gene_variant,,ENST00000656133,;AC011603.2,upstream_gene_variant,,ENST00000664160,;AC011603.2,upstream_gene_variant,,ENST00000665211,;Y_RNA,downstream_gene_variant,,ENST00000363439,;TUBA1B,3_prime_UTR_variant,,ENST00000547765,;TUBA1B,non_coding_transcript_exon_variant,,ENST00000332858,;TUBA1B,downstream_gene_variant,,ENST00000551324,;,regulatory_region_variant,,ENSR00000051578,; G ENSG00000123416 ENST00000336023 Transcript synonymous_variant 749/1627 654/1356 218/451 D gaT/gaC 1 NA -1 TUBA1B HGNC HGNC:18809 protein_coding YES CCDS31792.1 ENSP00000336799 P68363.171 UPI00000015EA NM_006082.3 4/4 Gene3D:3.40.50.1440,PDB-ENSP_mappings:5ij0.A,PDB-ENSP_mappings:5ij9.A,PDB-ENSP_mappings:5n5n.G,PDB-ENSP_mappings:5n5n.H,PDB-ENSP_mappings:5n5n.I,PDB-ENSP_mappings:5n5n.J,PDB-ENSP_mappings:5n5n.K,PDB-ENSP_mappings:5n5n.L,PDB-ENSP_mappings:6e7b.A,PDB-ENSP_mappings:6e7c.A,PDB-ENSP_mappings:6i2i.A,PDB-ENSP_mappings:6qus.O,PDB-ENSP_mappings:6qus.X,PDB-ENSP_mappings:6quy.A,PDB-ENSP_mappings:6quy.C,PDB-ENSP_mappings:6qve.A,PDB-ENSP_mappings:6qve.C,PDB-ENSP_mappings:6qvj.O,PDB-ENSP_mappings:6qvj.X,PDB-ENSP_mappings:6s8l.A,Prints:PR01162,PANTHER:PTHR11588,PANTHER:PTHR11588:SF292,SMART:SM00864,Superfamily:SSF52490,CDD:cd02186 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . TAT . 130.6 NA NA NA NA NA NA NA NA NA 49128660 TUBA1B 10376 . GRCh38 chr12 49128756 49128756 + Silent SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.558C>T p.Asn186= p.N186= ENST00000336023 4/4 NA NA NA NA NA NA TUBA1B,synonymous_variant,p.Asn186=,ENST00000336023,NM_006082.3;TUBA1B,synonymous_variant,p.Asn146=,ENST00000550367,;TUBA1B,downstream_gene_variant,,ENST00000547476,;TUBA1B,downstream_gene_variant,,ENST00000549870,;TUBA1B,downstream_gene_variant,,ENST00000552984,;AC011603.2,non_coding_transcript_exon_variant,,ENST00000547387,;AC011603.2,non_coding_transcript_exon_variant,,ENST00000548149,;AC011603.2,upstream_gene_variant,,ENST00000547712,;AC011603.2,upstream_gene_variant,,ENST00000551496,;AC011603.2,downstream_gene_variant,,ENST00000552893,;AC011603.2,upstream_gene_variant,,ENST00000656133,;AC011603.2,upstream_gene_variant,,ENST00000664160,;AC011603.2,upstream_gene_variant,,ENST00000665211,;Y_RNA,downstream_gene_variant,,ENST00000363439,;TUBA1B,3_prime_UTR_variant,,ENST00000547765,;TUBA1B,non_coding_transcript_exon_variant,,ENST00000332858,;TUBA1B,downstream_gene_variant,,ENST00000551324,;,regulatory_region_variant,,ENSR00000051578,; A ENSG00000123416 ENST00000336023 Transcript synonymous_variant 653/1627 558/1356 186/451 N aaC/aaT 1 NA -1 TUBA1B HGNC HGNC:18809 protein_coding YES CCDS31792.1 ENSP00000336799 P68363.171 UPI00000015EA NM_006082.3 4/4 Gene3D:3.40.50.1440,PDB-ENSP_mappings:5ij0.A,PDB-ENSP_mappings:5ij9.A,PDB-ENSP_mappings:5n5n.G,PDB-ENSP_mappings:5n5n.H,PDB-ENSP_mappings:5n5n.I,PDB-ENSP_mappings:5n5n.J,PDB-ENSP_mappings:5n5n.K,PDB-ENSP_mappings:5n5n.L,PDB-ENSP_mappings:6e7b.A,PDB-ENSP_mappings:6e7c.A,PDB-ENSP_mappings:6i2i.A,PDB-ENSP_mappings:6qus.O,PDB-ENSP_mappings:6qus.X,PDB-ENSP_mappings:6quy.A,PDB-ENSP_mappings:6quy.C,PDB-ENSP_mappings:6qve.A,PDB-ENSP_mappings:6qve.C,PDB-ENSP_mappings:6qvj.O,PDB-ENSP_mappings:6qvj.X,PDB-ENSP_mappings:6s8l.A,Pfam:PF00091,Prints:PR01161,PANTHER:PTHR11588,PANTHER:PTHR11588:SF292,SMART:SM00864,Superfamily:SSF52490,CDD:cd02186 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . AGT . 660.6 NA NA NA NA NA NA NA NA NA 49128756 TUBA1B 10376 . GRCh38 chr12 49128771 49128771 + Silent SNP T T C novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.543A>G p.Val181= p.V181= ENST00000336023 4/4 NA NA NA NA NA NA TUBA1B,synonymous_variant,p.Val181=,ENST00000336023,NM_006082.3;TUBA1B,synonymous_variant,p.Val141=,ENST00000550367,;TUBA1B,downstream_gene_variant,,ENST00000547476,;TUBA1B,downstream_gene_variant,,ENST00000549870,;TUBA1B,downstream_gene_variant,,ENST00000552984,;AC011603.2,non_coding_transcript_exon_variant,,ENST00000547387,;AC011603.2,non_coding_transcript_exon_variant,,ENST00000548149,;AC011603.2,upstream_gene_variant,,ENST00000547712,;AC011603.2,upstream_gene_variant,,ENST00000551496,;AC011603.2,downstream_gene_variant,,ENST00000552893,;AC011603.2,upstream_gene_variant,,ENST00000656133,;AC011603.2,upstream_gene_variant,,ENST00000664160,;AC011603.2,upstream_gene_variant,,ENST00000665211,;Y_RNA,downstream_gene_variant,,ENST00000363439,;TUBA1B,3_prime_UTR_variant,,ENST00000547765,;TUBA1B,non_coding_transcript_exon_variant,,ENST00000332858,;TUBA1B,downstream_gene_variant,,ENST00000551324,;,regulatory_region_variant,,ENSR00000051578,; C ENSG00000123416 ENST00000336023 Transcript synonymous_variant 638/1627 543/1356 181/451 V gtA/gtG 1 NA -1 TUBA1B HGNC HGNC:18809 protein_coding YES CCDS31792.1 ENSP00000336799 P68363.171 UPI00000015EA NM_006082.3 4/4 Gene3D:3.40.50.1440,PDB-ENSP_mappings:5ij0.A,PDB-ENSP_mappings:5ij9.A,PDB-ENSP_mappings:5n5n.G,PDB-ENSP_mappings:5n5n.H,PDB-ENSP_mappings:5n5n.I,PDB-ENSP_mappings:5n5n.J,PDB-ENSP_mappings:5n5n.K,PDB-ENSP_mappings:5n5n.L,PDB-ENSP_mappings:6e7b.A,PDB-ENSP_mappings:6e7c.A,PDB-ENSP_mappings:6i2i.A,PDB-ENSP_mappings:6qus.O,PDB-ENSP_mappings:6qus.X,PDB-ENSP_mappings:6quy.A,PDB-ENSP_mappings:6quy.C,PDB-ENSP_mappings:6qve.A,PDB-ENSP_mappings:6qve.C,PDB-ENSP_mappings:6qvj.O,PDB-ENSP_mappings:6qvj.X,PDB-ENSP_mappings:6s8l.A,Pfam:PF00091,Prints:PR01161,PANTHER:PTHR11588,PANTHER:PTHR11588:SF292,SMART:SM00864,Superfamily:SSF52490,CDD:cd02186 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . CTA . 600.6 NA NA NA NA NA NA NA NA NA 49128771 TUBA1B 10376 . GRCh38 chr12 49128777 49128777 + Silent SNP T T A novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.537A>T p.Thr179= p.T179= ENST00000336023 4/4 NA NA NA NA NA NA TUBA1B,synonymous_variant,p.Thr179=,ENST00000336023,NM_006082.3;TUBA1B,synonymous_variant,p.Thr139=,ENST00000550367,;TUBA1B,downstream_gene_variant,,ENST00000547476,;TUBA1B,downstream_gene_variant,,ENST00000549870,;TUBA1B,downstream_gene_variant,,ENST00000552984,;AC011603.2,non_coding_transcript_exon_variant,,ENST00000547387,;AC011603.2,non_coding_transcript_exon_variant,,ENST00000548149,;AC011603.2,upstream_gene_variant,,ENST00000547712,;AC011603.2,upstream_gene_variant,,ENST00000551496,;AC011603.2,downstream_gene_variant,,ENST00000552893,;AC011603.2,upstream_gene_variant,,ENST00000656133,;AC011603.2,upstream_gene_variant,,ENST00000664160,;AC011603.2,upstream_gene_variant,,ENST00000665211,;Y_RNA,downstream_gene_variant,,ENST00000363439,;TUBA1B,3_prime_UTR_variant,,ENST00000547765,;TUBA1B,non_coding_transcript_exon_variant,,ENST00000332858,;TUBA1B,downstream_gene_variant,,ENST00000551324,;,regulatory_region_variant,,ENSR00000051578,; A ENSG00000123416 ENST00000336023 Transcript synonymous_variant 632/1627 537/1356 179/451 T acA/acT 1 NA -1 TUBA1B HGNC HGNC:18809 protein_coding YES CCDS31792.1 ENSP00000336799 P68363.171 UPI00000015EA NM_006082.3 4/4 Gene3D:3.40.50.1440,PDB-ENSP_mappings:5ij0.A,PDB-ENSP_mappings:5ij9.A,PDB-ENSP_mappings:5n5n.G,PDB-ENSP_mappings:5n5n.H,PDB-ENSP_mappings:5n5n.I,PDB-ENSP_mappings:5n5n.J,PDB-ENSP_mappings:5n5n.K,PDB-ENSP_mappings:5n5n.L,PDB-ENSP_mappings:6e7b.A,PDB-ENSP_mappings:6e7c.A,PDB-ENSP_mappings:6i2i.A,PDB-ENSP_mappings:6qus.O,PDB-ENSP_mappings:6qus.X,PDB-ENSP_mappings:6quy.A,PDB-ENSP_mappings:6quy.C,PDB-ENSP_mappings:6qve.A,PDB-ENSP_mappings:6qve.C,PDB-ENSP_mappings:6qvj.O,PDB-ENSP_mappings:6qvj.X,PDB-ENSP_mappings:6s8l.A,Pfam:PF00091,Prints:PR01161,PANTHER:PTHR11588,PANTHER:PTHR11588:SF292,SMART:SM00864,Superfamily:SSF52490,CDD:cd02186 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . CTG . 570.6 NA NA NA NA NA NA NA NA NA 49128777 TUBA1B 10376 . GRCh38 chr12 49128792 49128792 + Silent SNP T T G rs17123575 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.522A>C p.Ala174= p.A174= ENST00000336023 4/4 NA NA NA NA NA NA TUBA1B,splice_region_variant,,ENST00000550367,;TUBA1B,synonymous_variant,p.Ala174=,ENST00000336023,NM_006082.3;TUBA1B,downstream_gene_variant,,ENST00000547476,;TUBA1B,downstream_gene_variant,,ENST00000549870,;TUBA1B,downstream_gene_variant,,ENST00000552984,;AC011603.2,non_coding_transcript_exon_variant,,ENST00000547387,;AC011603.2,non_coding_transcript_exon_variant,,ENST00000548149,;AC011603.2,upstream_gene_variant,,ENST00000547712,;AC011603.2,upstream_gene_variant,,ENST00000551496,;AC011603.2,downstream_gene_variant,,ENST00000552893,;AC011603.2,upstream_gene_variant,,ENST00000656133,;AC011603.2,upstream_gene_variant,,ENST00000664160,;AC011603.2,upstream_gene_variant,,ENST00000665211,;Y_RNA,downstream_gene_variant,,ENST00000363439,;TUBA1B,3_prime_UTR_variant,,ENST00000547765,;TUBA1B,non_coding_transcript_exon_variant,,ENST00000332858,;TUBA1B,downstream_gene_variant,,ENST00000551324,;,regulatory_region_variant,,ENSR00000051578,; G ENSG00000123416 ENST00000336023 Transcript synonymous_variant 617/1627 522/1356 174/451 A gcA/gcC rs17123575 1 NA -1 TUBA1B HGNC HGNC:18809 protein_coding YES CCDS31792.1 ENSP00000336799 P68363.171 UPI00000015EA NM_006082.3 4/4 Gene3D:3.40.50.1440,PDB-ENSP_mappings:5ij0.A,PDB-ENSP_mappings:5ij9.A,PDB-ENSP_mappings:5n5n.G,PDB-ENSP_mappings:5n5n.H,PDB-ENSP_mappings:5n5n.I,PDB-ENSP_mappings:5n5n.J,PDB-ENSP_mappings:5n5n.K,PDB-ENSP_mappings:5n5n.L,PDB-ENSP_mappings:6e7b.A,PDB-ENSP_mappings:6e7c.A,PDB-ENSP_mappings:6i2i.A,PDB-ENSP_mappings:6qus.O,PDB-ENSP_mappings:6qus.X,PDB-ENSP_mappings:6quy.A,PDB-ENSP_mappings:6quy.C,PDB-ENSP_mappings:6qve.A,PDB-ENSP_mappings:6qve.C,PDB-ENSP_mappings:6qvj.O,PDB-ENSP_mappings:6qvj.X,PDB-ENSP_mappings:6s8l.A,Pfam:PF00091,Prints:PR01161,PANTHER:PTHR11588,PANTHER:PTHR11588:SF292,SMART:SM00864,Superfamily:SSF52490,CDD:cd02186 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . GTG . 336.6 NA NA NA NA NA NA NA NA NA 49128792 TUBA1B 10376 . GRCh38 chr12 49128828 49128828 + Silent SNP G G T novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.486C>A p.Gly162= p.G162= ENST00000336023 4/4 NA NA NA NA NA NA TUBA1B,synonymous_variant,p.Gly162=,ENST00000336023,NM_006082.3;TUBA1B,intron_variant,,ENST00000550367,;TUBA1B,downstream_gene_variant,,ENST00000547476,;TUBA1B,downstream_gene_variant,,ENST00000549870,;TUBA1B,downstream_gene_variant,,ENST00000552984,;AC011603.2,non_coding_transcript_exon_variant,,ENST00000547387,;AC011603.2,non_coding_transcript_exon_variant,,ENST00000548149,;AC011603.2,upstream_gene_variant,,ENST00000547712,;AC011603.2,upstream_gene_variant,,ENST00000551496,;AC011603.2,downstream_gene_variant,,ENST00000552893,;AC011603.2,upstream_gene_variant,,ENST00000656133,;AC011603.2,upstream_gene_variant,,ENST00000664160,;AC011603.2,upstream_gene_variant,,ENST00000665211,;Y_RNA,downstream_gene_variant,,ENST00000363439,;TUBA1B,3_prime_UTR_variant,,ENST00000547765,;TUBA1B,non_coding_transcript_exon_variant,,ENST00000332858,;TUBA1B,downstream_gene_variant,,ENST00000551324,;,regulatory_region_variant,,ENSR00000051578,; T ENSG00000123416 ENST00000336023 Transcript synonymous_variant 581/1627 486/1356 162/451 G ggC/ggA 1 NA -1 TUBA1B HGNC HGNC:18809 protein_coding YES CCDS31792.1 ENSP00000336799 P68363.171 UPI00000015EA NM_006082.3 4/4 Gene3D:3.40.50.1440,PDB-ENSP_mappings:5ij0.A,PDB-ENSP_mappings:5ij9.A,PDB-ENSP_mappings:5n5n.G,PDB-ENSP_mappings:5n5n.H,PDB-ENSP_mappings:5n5n.I,PDB-ENSP_mappings:5n5n.J,PDB-ENSP_mappings:5n5n.K,PDB-ENSP_mappings:5n5n.L,PDB-ENSP_mappings:6e7b.A,PDB-ENSP_mappings:6e7c.A,PDB-ENSP_mappings:6i2i.A,PDB-ENSP_mappings:6qus.O,PDB-ENSP_mappings:6qus.X,PDB-ENSP_mappings:6quy.A,PDB-ENSP_mappings:6quy.C,PDB-ENSP_mappings:6qve.A,PDB-ENSP_mappings:6qve.C,PDB-ENSP_mappings:6qvj.O,PDB-ENSP_mappings:6qvj.X,PDB-ENSP_mappings:6s8l.A,Pfam:PF00091,Prints:PR01161,Prints:PR01162,PANTHER:PTHR11588,PANTHER:PTHR11588:SF292,SMART:SM00864,Superfamily:SSF52490,CDD:cd02186 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . TGC . 45.6 NA NA NA NA NA NA NA NA NA 49128828 TUBA1B 10376 . GRCh38 chr12 49128831 49128831 + Silent SNP A A G novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.483T>C p.Tyr161= p.Y161= ENST00000336023 4/4 NA NA NA NA NA NA TUBA1B,synonymous_variant,p.Tyr161=,ENST00000336023,NM_006082.3;TUBA1B,intron_variant,,ENST00000550367,;TUBA1B,downstream_gene_variant,,ENST00000547476,;TUBA1B,downstream_gene_variant,,ENST00000549870,;TUBA1B,downstream_gene_variant,,ENST00000552984,;AC011603.2,non_coding_transcript_exon_variant,,ENST00000547387,;AC011603.2,non_coding_transcript_exon_variant,,ENST00000548149,;AC011603.2,upstream_gene_variant,,ENST00000547712,;AC011603.2,upstream_gene_variant,,ENST00000551496,;AC011603.2,downstream_gene_variant,,ENST00000552893,;AC011603.2,upstream_gene_variant,,ENST00000656133,;AC011603.2,upstream_gene_variant,,ENST00000664160,;AC011603.2,upstream_gene_variant,,ENST00000665211,;Y_RNA,downstream_gene_variant,,ENST00000363439,;TUBA1B,3_prime_UTR_variant,,ENST00000547765,;TUBA1B,non_coding_transcript_exon_variant,,ENST00000332858,;TUBA1B,downstream_gene_variant,,ENST00000551324,;,regulatory_region_variant,,ENSR00000051578,; G ENSG00000123416 ENST00000336023 Transcript synonymous_variant 578/1627 483/1356 161/451 Y taT/taC 1 NA -1 TUBA1B HGNC HGNC:18809 protein_coding YES CCDS31792.1 ENSP00000336799 P68363.171 UPI00000015EA NM_006082.3 4/4 Gene3D:3.40.50.1440,PDB-ENSP_mappings:5ij0.A,PDB-ENSP_mappings:5ij9.A,PDB-ENSP_mappings:5n5n.G,PDB-ENSP_mappings:5n5n.H,PDB-ENSP_mappings:5n5n.I,PDB-ENSP_mappings:5n5n.J,PDB-ENSP_mappings:5n5n.K,PDB-ENSP_mappings:5n5n.L,PDB-ENSP_mappings:6e7b.A,PDB-ENSP_mappings:6e7c.A,PDB-ENSP_mappings:6i2i.A,PDB-ENSP_mappings:6qus.O,PDB-ENSP_mappings:6qus.X,PDB-ENSP_mappings:6quy.A,PDB-ENSP_mappings:6quy.C,PDB-ENSP_mappings:6qve.A,PDB-ENSP_mappings:6qve.C,PDB-ENSP_mappings:6qvj.O,PDB-ENSP_mappings:6qvj.X,PDB-ENSP_mappings:6s8l.A,Pfam:PF00091,Prints:PR01161,Prints:PR01162,PANTHER:PTHR11588,PANTHER:PTHR11588:SF292,SMART:SM00864,Superfamily:SSF52490,CDD:cd02186 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . CAT . 78.6 NA NA NA NA NA NA NA NA NA 49128831 TUBA1C 84790 . GRCh38 chr12 49272602 49272602 + Missense_Mutation SNP T T G novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.935T>G p.Leu312Arg p.L312R ENST00000541364 4/4 NA NA NA NA NA NA TUBA1C,missense_variant,p.Leu242Arg,ENST00000301072,NM_032704.5;TUBA1C,missense_variant,p.Leu312Arg,ENST00000541364,NM_001303114.1,NM_001303115.2,NM_001303116.2,NM_001303117.2;TUBA1C,intron_variant,,ENST00000639419,;TUBA1C,downstream_gene_variant,,ENST00000549183,;AC125611.3,intron_variant,,ENST00000550468,;TUBA1C,3_prime_UTR_variant,,ENST00000552448,;TUBA1C,non_coding_transcript_exon_variant,,ENST00000548470,;TUBA1C,downstream_gene_variant,,ENST00000549818,;TUBA1C,downstream_gene_variant,,ENST00000552125,;,regulatory_region_variant,,ENSR00000967917,; G ENSG00000167553 ENST00000541364 Transcript missense_variant 963/1695 935/1560 312/519 L/R cTg/cGg 1 NA 1 TUBA1C HGNC HGNC:20768 protein_coding YES CCDS76556.1 ENSP00000443475 F5H5D3.85 UPI000206586E NM_001303114.1,NM_001303115.2,NM_001303116.2,NM_001303117.2 deleterious_low_confidence(0) probably_damaging(1) 4/4 Gene3D:3.40.50.1440,PANTHER:PTHR11588,PANTHER:PTHR11588:SF64,SMART:SM00864,Superfamily:SSF52490,CDD:cd02186 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 2 NA NA NA . CTG . 57.6 NA NA NA NA NA NA NA NA NA 49272602 C1QL4 338761 . GRCh38 chr12 49333204 49333204 + Silent SNP C C T NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.567G>A p.Ala189= p.A189= ENST00000334221 2/2 NA NA NA NA NA NA C1QL4,synonymous_variant,p.Ala189=,ENST00000334221,NM_001008223.2;TROAP,downstream_gene_variant,,ENST00000257909,NM_005480.4;TROAP,downstream_gene_variant,,ENST00000547923,;TROAP,downstream_gene_variant,,ENST00000551245,;TROAP,downstream_gene_variant,,ENST00000546735,;TROAP,downstream_gene_variant,,ENST00000546776,;TROAP,downstream_gene_variant,,ENST00000549891,;TROAP,downstream_gene_variant,,ENST00000551192,; T ENSG00000186897 ENST00000334221 Transcript synonymous_variant 1278/2073 567/717 189/238 A gcG/gcA COSV57743443 1 NA -1 C1QL4 HGNC HGNC:31416 protein_coding YES CCDS31793.1 ENSP00000335285 Q86Z23.121 A0A3B0INP7.13 UPI00000033B3 NM_001008223.2 2/2 Gene3D:2.60.120.40,Pfam:PF00386,PROSITE_profiles:PS50871,PANTHER:PTHR22923,PANTHER:PTHR22923:SF67,SMART:SM00110,Superfamily:SSF49842 NA NA NA NA NA NA NA NA NA 1 NA NA NA NA LOW 1 SNV 1 NA 1 NA NA . CCG . 5206.6 NA NA NA NA NA NA NA NA NA 49333204 DNAJC22 79962 . GRCh38 chr12 49348914 49348914 + Frame_Shift_Del DEL G G - novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.47del p.Gly16AlafsTer21 p.G16Afs*21 ENST00000549441 3/4 NA NA NA NA NA NA DNAJC22,frameshift_variant,p.Gly16AlafsTer21,ENST00000549441,NM_001304944.2,NM_024902.4;DNAJC22,frameshift_variant,p.Gly16AlafsTer21,ENST00000395069,;DNAJC22,upstream_gene_variant,,ENST00000552651,;DNAJC22,frameshift_variant,p.Gly16AlafsTer21,ENST00000647553,;DNAJC22,upstream_gene_variant,,ENST00000551153,; - ENSG00000178401 ENST00000549441 Transcript frameshift_variant 1275/4447 42/1026 14/341 V/X gtG/gt 1 NA 1 DNAJC22 HGNC HGNC:25802 protein_coding YES CCDS8785.1 ENSP00000446830 Q8N4W6.125 A0A024R0Z2.32 UPI000006D2CC NM_001304944.2,NM_024902.4 3/4 Pfam:PF05154,PANTHER:PTHR44733,Transmembrane_helices:TMhelix NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 2 5 NA NA . GTGG . 3963.6 NA NA NA NA NA NA NA NA NA 49348913 AQP2 359 . GRCh38 chr12 49955456 49955456 + Missense_Mutation SNP G G A rs781620316 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.664G>A p.Val222Met p.V222M ENST00000199280 4/4 NA NA NA NA NA NA AQP2,missense_variant,p.Val222Met,ENST00000199280,NM_000486.6;AQP2,downstream_gene_variant,,ENST00000550862,;AC025154.2,intron_variant,,ENST00000550530,;AC025154.2,intron_variant,,ENST00000552379,;AC025154.1,intron_variant,,ENST00000552806,;AC025154.2,downstream_gene_variant,,ENST00000550214,;AQP2,intron_variant,,ENST00000551526,;,TF_binding_site_variant,,ENSM00522747498,;,TF_binding_site_variant,,ENSM00522918607,;,TF_binding_site_variant,,ENSM00522987823,; A ENSG00000167580 ENST00000199280 Transcript missense_variant 758/4180 664/816 222/271 V/M Gtg/Atg rs781620316 1 NA 1 AQP2 HGNC HGNC:634 protein_coding YES CCDS8792.1 ENSP00000199280 P41181.189 UPI000000D9DF NM_000486.6 tolerated(0.06) benign(0.087) 4/4 PDB-ENSP_mappings:4nef.A,PDB-ENSP_mappings:4nef.B,PDB-ENSP_mappings:4nef.C,PDB-ENSP_mappings:4nef.D,PDB-ENSP_mappings:4oj2.X,PDB-ENSP_mappings:6qf5.A,PDB-ENSP_mappings:6qf5.B,PDB-ENSP_mappings:6qf5.C,PDB-ENSP_mappings:6qf5.D,Transmembrane_helices:TMhelix,CDD:cd00333,PANTHER:PTHR19139,PANTHER:PTHR19139:SF45,Gene3D:1.20.1080.10,Superfamily:SSF81338,Prints:PR02014,Prints:PR00783 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . CGT . 2978.6 4.042e-06 NA NA NA 5.486e-05 NA NA NA NA 49955456 FAM186A 121006 . GRCh38 chr12 50352008 50352009 + In_Frame_Ins INS - - GCCTGCTGAGGGGTGAGAGAGATCCCCAGAGCCTGGGCCTGCTGAGGGGTGAGAGGGATACCCAGGGCCTGG rs1565884144 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4823_4824insCCAGGCCCTGGGTATCCCTCTCACCCCTCAGCAGGCCCAGGCTCTGGGGATCTCTCTCACCCCTCAGCAGGC p.Ala1610_Gln1611insLeuGlyIleProLeuThrProGlnGlnAlaGlnAlaLeuGlyIleSerLeuThrProGlnGlnAlaGlnAla p.A1610_Q1611insLGIPLTPQQAQALGISLTPQQAQA ENST00000327337 4/8 NA NA NA NA NA NA FAM186A,inframe_insertion,p.Ala1610_Gln1611insLeuGlyIleProLeuThrProGlnGlnAlaGlnAlaLeuGlyIleSerLeuThrProGlnGlnAlaGlnAla,ENST00000543111,;FAM186A,inframe_insertion,p.Ala1610_Gln1611insLeuGlyIleProLeuThrProGlnGlnAlaGlnAlaLeuGlyIleSerLeuThrProGlnGlnAlaGlnAla,ENST00000327337,NM_001145475.3;FAM186A,upstream_gene_variant,,ENST00000543096,; GCCTGCTGAGGGGTGAGAGAGATCCCCAGAGCCTGGGCCTGCTGAGGGGTGAGAGGGATACCCAGGGCCTGG ENSG00000185958 ENST00000327337 Transcript inframe_insertion 4948-4949/7255 4823-4824/7056 1608/2351 A/AQALGIPLTPQQAQALGISLTPQQA gcg/gcCCAGGCCCTGGGTATCCCTCTCACCCCTCAGCAGGCCCAGGCTCTGGGGATCTCTCTCACCCCTCAGCAGGCg rs1565884144,COSV59253776 1 NA -1 FAM186A HGNC HGNC:26980 protein_coding YES CCDS44878.1 ENSP00000329995 A6NE01.78 UPI00001D7978 NM_001145475.3 4/8 PANTHER:PTHR33590,PANTHER:PTHR33590:SF2 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 insertion 5 NA 0,1 NA NA . GCG . 11178.64 NA NA NA NA NA NA NA NA NA 50352008 FAM186A 121006 . GRCh38 chr12 50352080 50352081 + Frame_Shift_Ins INS - - CTGCTGAGGGGTGAGAGGGATCCCCAGGGCCTGG rs762780805 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4751_4752insCCAGGCCCTGGGGATCCCTCTCACCCCTCAGCAG p.Glu1586AlafsTer92 p.E1586Afs*92 ENST00000327337 4/8 NA NA NA NA NA NA FAM186A,frameshift_variant,p.Glu1586AlafsTer92,ENST00000543111,;FAM186A,frameshift_variant,p.Glu1586AlafsTer92,ENST00000327337,NM_001145475.3;FAM186A,upstream_gene_variant,,ENST00000543096,; CTGCTGAGGGGTGAGAGGGATCCCCAGGGCCTGG ENSG00000185958 ENST00000327337 Transcript frameshift_variant 4876-4877/7255 4751-4752/7056 1584/2351 A/AQALGIPLTPQQX gcg/gcCCAGGCCCTGGGGATCCCTCTCACCCCTCAGCAGg rs762780805 1 NA -1 FAM186A HGNC HGNC:26980 protein_coding YES CCDS44878.1 ENSP00000329995 A6NE01.78 UPI00001D7978 NM_001145475.3 4/8 PANTHER:PTHR33590,PANTHER:PTHR33590:SF2 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 insertion 5 NA NA NA . GCG . 11130.64 NA NA NA NA NA NA NA NA NA 50352080 FAM186A 121006 . GRCh38 chr12 50363321 50363321 + Missense_Mutation SNP C C T rs900672287 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.236G>A p.Arg79Gln p.R79Q ENST00000327337 2/8 NA NA NA NA NA NA FAM186A,missense_variant,p.Arg79Gln,ENST00000543111,;FAM186A,missense_variant,p.Arg79Gln,ENST00000327337,NM_001145475.3;AC090058.1,upstream_gene_variant,,ENST00000498788,; T ENSG00000185958 ENST00000327337 Transcript missense_variant 361/7255 236/7056 79/2351 R/Q cGg/cAg rs900672287 1 NA -1 FAM186A HGNC HGNC:26980 protein_coding YES CCDS44878.1 ENSP00000329995 A6NE01.78 UPI00001D7978 NM_001145475.3 tolerated(0.09) benign(0.33) 2/8 PANTHER:PTHR33590,PANTHER:PTHR33590:SF2 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . CCG . 2135.6 2.601e-05 NA 0.0001215 NA NA 6.577e-05 NA NA NA 50363321 LARP4 113251 . GRCh38 chr12 50454408 50454408 + Frame_Shift_Del DEL A A - rs1179425728 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1136del p.Asn379IlefsTer3 p.N379Ifs*3 ENST00000429001 10/16 NA NA NA NA NA NA LARP4,frameshift_variant,p.Asn373IlefsTer3,ENST00000398473,NM_001352306.2,NM_001352312.2,NM_001352310.2,NM_001352309.2,NM_001352311.2,NM_052879.5,NM_001352321.2,NM_001352307.2,NM_001352313.2,NM_001352314.1;LARP4,frameshift_variant,p.Asn373IlefsTer37,ENST00000293618,NM_001170808.1,NM_001352323.2,NM_001170803.2,NM_001352318.2;LARP4,frameshift_variant,p.Asn379IlefsTer3,ENST00000429001,NM_001330415.2,NM_001352305.2;LARP4,frameshift_variant,p.Asn302IlefsTer3,ENST00000347328,NM_001352317.2,NM_001352320.2,NM_001352319.2,NM_001352316.2,NM_001352308.2,NM_199190.3,NM_001352322.2,NM_001352315.2;LARP4,frameshift_variant,p.Asn372IlefsTer3,ENST00000518444,NM_199188.3;LARP4,frameshift_variant,p.Asn160IlefsTer3,ENST00000520064,;LARP4,frameshift_variant,p.Asn303IlefsTer3,ENST00000518561,NM_001352304.1,NM_001352324.1;LARP4,frameshift_variant,p.Asn373IlefsTer3,ENST00000522085,NM_001170804.1,NM_001352325.2,NM_001352326.2;LARP4,3_prime_UTR_variant,,ENST00000614335,;LARP4,non_coding_transcript_exon_variant,,ENST00000521120,; - ENSG00000161813 ENST00000429001 Transcript frameshift_variant 1284/4000 1130/2193 377/730 Q/X cAa/ca rs1179425728 1 NA 1 LARP4 HGNC HGNC:24320 protein_coding YES CCDS81690.1 ENSP00000415464 Q71RC2.151 UPI0000231CB8 NM_001330415.2,NM_001352305.2 10/16 PANTHER:PTHR22792,PANTHER:PTHR22792:SF48 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 5 6 NA NA . CCAA . 1513.6 1.229e-05 NA NA 0.0001007 NA NA 8.944e-06 NA 3.42e-05 50454407 TFCP2 7024 . GRCh38 chr12 51172304 51172304 + Missense_Mutation SNP A A G novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.119T>C p.Met40Thr p.M40T ENST00000257915 1/15 NA NA NA NA NA NA TFCP2,missense_variant,p.Met40Thr,ENST00000257915,NM_005653.5,NM_001173452.2;TFCP2,missense_variant,p.Met40Thr,ENST00000548115,NM_001173453.2;TFCP2,missense_variant,p.Met40Thr,ENST00000549867,;TFCP2,intron_variant,,ENST00000548108,;,regulatory_region_variant,,ENSR00000051854,; G ENSG00000135457 ENST00000257915 Transcript missense_variant 832/3807 119/1509 40/502 M/T aTg/aCg 1 NA -1 TFCP2 HGNC HGNC:11748 protein_coding YES CCDS8808.1 ENSP00000257915 Q12800.160 A0A024R120.49 UPI0000071CCA NM_005653.5,NM_001173452.2 deleterious(0.03) benign(0.215) 1/15 PANTHER:PTHR11037,PANTHER:PTHR11037:SF11 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CAT . 3691.6 NA NA NA NA NA NA NA NA NA 51172304 POU6F1 5463 . GRCh38 chr12 51199833 51199833 + Missense_Mutation SNP T T G rs4077093 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.280A>C p.Thr94Pro p.T94P ENST00000333640 4/11 NA NA NA NA NA NA POU6F1,missense_variant,p.Thr94Pro,ENST00000333640,NM_001330422.2;POU6F1,missense_variant,p.His92Pro,ENST00000550824,;POU6F1,upstream_gene_variant,,ENST00000552305,;AC139768.1,downstream_gene_variant,,ENST00000620274,;POU6F1,non_coding_transcript_exon_variant,,ENST00000549309,;POU6F1,non_coding_transcript_exon_variant,,ENST00000548692,;POU6F1,intron_variant,,ENST00000546685,;POU6F1,downstream_gene_variant,,ENST00000547854,;POU6F1,upstream_gene_variant,,ENST00000547855,;POU6F1,missense_variant,p.Thr94Pro,ENST00000636728,;POU6F1,upstream_gene_variant,,ENST00000636068,;POU6F1,upstream_gene_variant,,ENST00000636119,; G ENSG00000184271 ENST00000333640 Transcript missense_variant 357/2960 280/1836 94/611 T/P Act/Cct rs4077093 1 NA -1 POU6F1 HGNC HGNC:9224 protein_coding YES CCDS81691.1 ENSP00000330190 A0A1C7CYV8.34 UPI0007DC714F NM_001330422.2 tolerated_low_confidence(0.98) benign(0.005) 4/11 NA 0.9244 0.853 NA 0.876 0.7853 0.8344 NA NA 30595370 NA NA NA NA MODERATE 1 SNV 5 NA 1 NA NA . GTG . 1660.6 NA NA NA NA NA NA NA NA NA 51199833 ANKRD33 341405 . GRCh38 chr12 51891046 51891046 + Missense_Mutation SNP C C T rs369733543 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1100C>T p.Pro367Leu p.P367L ENST00000301190 5/5 NA NA NA NA NA NA ANKRD33,missense_variant,p.Pro367Leu,ENST00000301190,NM_182608.4;ANKRD33,intron_variant,,ENST00000340970,NM_001304459.2,NM_001130015.2,NM_001304460.2;ANKRD33,non_coding_transcript_exon_variant,,ENST00000547119,;ANKRD33,downstream_gene_variant,,ENST00000549316,;ANKRD33,non_coding_transcript_exon_variant,,ENST00000548526,;ANKRD33,intron_variant,,ENST00000548383,;ANKRD33,intron_variant,,ENST00000549751,;ANKRD33,intron_variant,,ENST00000550652,; T ENSG00000167612 ENST00000301190 Transcript missense_variant 1184/1865 1100/1359 367/452 P/L cCg/cTg rs369733543 1 NA 1 ANKRD33 HGNC HGNC:13788 protein_coding YES CCDS8815.1 ENSP00000301190 Q7Z3H0.123 UPI00003668C0 NM_182608.4 tolerated(0.07) benign(0.003) 5/5 Low_complexity_(Seg):seg,PANTHER:PTHR24173,PANTHER:PTHR24173:SF29 NA NA NA NA NA NA NA NA 0.0001163 NA NA NA NA MODERATE 1 SNV 2 NA NA NA . CCG . 1763.6 1.198e-05 NA NA NA NA NA 1.772e-05 NA 3.267e-05 51891046 NR4A1 3164 . GRCh38 chr12 52055019 52055019 + Missense_Mutation SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.853C>T p.Pro285Ser p.P285S ENST00000545748 3/8 NA NA NA NA NA NA NR4A1,missense_variant,p.Pro285Ser,ENST00000545748,NM_001202234.1;NR4A1,missense_variant,p.Pro231Ser,ENST00000243050,NM_002135.4;NR4A1,missense_variant,p.Pro231Ser,ENST00000394824,;NR4A1,missense_variant,p.Pro244Ser,ENST00000360284,NM_001202233.1;NR4A1,missense_variant,p.Pro231Ser,ENST00000394825,NM_173157.3;NR4A1,missense_variant,p.Pro244Ser,ENST00000550082,;NR4A1,missense_variant,p.Pro244Ser,ENST00000546842,;NR4A1,missense_variant,p.Pro231Ser,ENST00000548232,;NR4A1,intron_variant,,ENST00000550763,;NR4A1,downstream_gene_variant,,ENST00000548977,;NR4A1,upstream_gene_variant,,ENST00000550582,;NR4A1,downstream_gene_variant,,ENST00000562373,;NR4A1AS,downstream_gene_variant,,ENST00000564363,;NR4A1AS,downstream_gene_variant,,ENST00000564531,;NR4A1,intron_variant,,ENST00000548733,;NR4A1,downstream_gene_variant,,ENST00000547206,;NR4A1,non_coding_transcript_exon_variant,,ENST00000550557,;NR4A1,non_coding_transcript_exon_variant,,ENST00000478250,;NR4A1,downstream_gene_variant,,ENST00000549102,;NR4A1,upstream_gene_variant,,ENST00000550339,;NR4A1,upstream_gene_variant,,ENST00000564201,;NR4A1,upstream_gene_variant,,ENST00000565848,;NR4A1,upstream_gene_variant,,ENST00000567890,;,regulatory_region_variant,,ENSR00000968280,; T ENSG00000123358 ENST00000545748 Transcript missense_variant 1848/3511 853/1959 285/652 P/S Cca/Tca 1 NA 1 NR4A1 HGNC HGNC:7980 protein_coding YES CCDS73471.1 ENSP00000440864 F5GXF0.83 UPI0000D621F3 NM_001202234.1 tolerated(0.26) benign(0.044) 3/8 PANTHER:PTHR24085:SF1,PANTHER:PTHR24085 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 2 NA NA NA . CCC . 4670.6 NA NA NA NA NA NA NA NA NA 52055019 KRT6B 3854 . GRCh38 chr12 52451898 52451898 + Silent SNP G G A rs778816046 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.181C>T p.Leu61= p.L61= ENST00000252252 1/9 NA NA NA NA NA NA KRT6B,synonymous_variant,p.Leu61=,ENST00000252252,NM_005555.4; A ENSG00000185479 ENST00000252252 Transcript synonymous_variant 249/2302 181/1695 61/564 L Ctg/Ttg rs778816046 1 NA -1 KRT6B HGNC HGNC:6444 protein_coding YES CCDS8828.1 ENSP00000252252 P04259.193 UPI000013CD50 NM_005555.4 1/9 PANTHER:PTHR45616:SF47,PANTHER:PTHR45616,Pfam:PF16208 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . AGA . 83.6 7.448e-05 6.276e-05 6.027e-05 NA NA NA 0.0001372 NA NA 52451898 KRT6B 3854 . GRCh38 chr12 52451899 52451899 + Silent SNP A A G rs747994676 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.180T>C p.Ser60= p.S60= ENST00000252252 1/9 NA NA NA NA NA NA KRT6B,synonymous_variant,p.Ser60=,ENST00000252252,NM_005555.4; G ENSG00000185479 ENST00000252252 Transcript synonymous_variant 248/2302 180/1695 60/564 S agT/agC rs747994676 1 NA -1 KRT6B HGNC HGNC:6444 protein_coding YES CCDS8828.1 ENSP00000252252 P04259.193 UPI000013CD50 NM_005555.4 1/9 Low_complexity_(Seg):seg,PANTHER:PTHR45616:SF47,PANTHER:PTHR45616,Pfam:PF16208 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . GAC . 83.6 7.45e-05 6.27e-05 6.031e-05 NA NA NA 0.0001373 NA NA 52451899 KRT2 3849 . GRCh38 chr12 52651842 52651843 + In_Frame_Ins INS - - GCCGCCTCCAAAGCC rs57149265 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.300_301insGGCTTTGGAGGCGGC p.Ser100_Ser101insGlyPheGlyGlyGly p.S100_S101insGFGGG ENST00000309680 1/9 NA NA NA NA NA NA KRT2,inframe_insertion,p.Ser100_Ser101insGlyPheGlyGlyGly,ENST00000309680,NM_000423.3;KRT2,upstream_gene_variant,,ENST00000547106,; GCCGCCTCCAAAGCC ENSG00000172867 ENST00000309680 Transcript inframe_insertion 369-370/2450 300-301/1920 100-101/639 -/GFGGG -/GGCTTTGGAGGCGGC rs57149265 1 NA -1 KRT2 HGNC HGNC:6439 protein_coding YES CCDS8835.1 ENSP00000310861 P35908.186 UPI0000367804 NM_000423.3 1/9 Low_complexity_(Seg):seg,PANTHER:PTHR45616,PANTHER:PTHR45616:SF14,Pfam:PF16208 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 insertion 1 NA NA 1 . CTG . 1900.64 NA NA NA NA NA NA NA NA NA 52651842 KRT4 3851 . GRCh38 chr12 52813799 52813800 + In_Frame_Ins INS - - CACCAAAGCCACCAGTGCCGAAACCAGCTCCGAAGCCGCCGG rs11267392 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.259_260insCCGGCGGCTTCGGAGCTGGTTTCGGCACTGGTGGCTTTGGTG p.Gly86_Gly87insAlaGlyGlyPheGlyAlaGlyPheGlyThrGlyGlyPheGly p.G86_G87insAGGFGAGFGTGGFG ENST00000551956 1/9 NA NA NA NA NA NA KRT4,inframe_insertion,p.Gly86_Gly87insAlaGlyGlyPheGlyAlaGlyPheGlyThrGlyGlyPheGly,ENST00000551956,NM_002272.4;KRT4,intron_variant,,ENST00000548097,;KRT4,intron_variant,,ENST00000552668,;KRT4,upstream_gene_variant,,ENST00000549295,;KRT4,upstream_gene_variant,,ENST00000551436,; CACCAAAGCCACCAGTGCCGAAACCAGCTCCGAAGCCGCCGG ENSG00000170477 ENST00000551956 Transcript inframe_insertion 317-318/2141 259-260/1563 87/520 G/AGGFGAGFGTGGFGG ggt/gCCGGCGGCTTCGGAGCTGGTTTCGGCACTGGTGGCTTTGGTGgt rs11267392,COSV53406366,COSV53408301 1 NA -1 KRT4 HGNC HGNC:6441 protein_coding YES CCDS41787.2 ENSP00000448220 P19013.187 UPI00001AEBB1 NM_002272.4 1/9 Low_complexity_(Seg):seg,PANTHER:PTHR45616:SF3,PANTHER:PTHR45616,Pfam:PF16208 NA 0.9463 0.8658 NA 0.9123 0.7809 0.8701 NA NA 0,1,1 NA NA NA NA MODERATE 1 insertion 1 NA 0,1,1 NA 1 . ACC . 7020.06 NA NA NA NA NA NA NA NA NA 52813799 KRT18 3875 . GRCh38 chr12 52949267 52949267 + Missense_Mutation SNP G G T rs74953757 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.94G>T p.Ala32Ser p.A32S ENST00000388837 2/8 NA NA NA NA NA NA KRT18,missense_variant,p.Ala32Ser,ENST00000550600,;KRT18,missense_variant,p.Ala32Ser,ENST00000388837,NM_199187.1;KRT18,missense_variant,p.Ala32Ser,ENST00000388835,NM_000224.3;KRT8,intron_variant,,ENST00000546826,;KRT8,intron_variant,,ENST00000546897,NM_001256293.2;KRT8,intron_variant,,ENST00000548998,;KRT8,intron_variant,,ENST00000552551,;KRT8,intron_variant,,ENST00000619952,;KRT8,intron_variant,,ENST00000549198,;KRT8,intron_variant,,ENST00000551318,;KRT18,non_coding_transcript_exon_variant,,ENST00000549078,;KRT8,non_coding_transcript_exon_variant,,ENST00000546921,;KRT18,upstream_gene_variant,,ENST00000546656,;KRT18,upstream_gene_variant,,ENST00000548015,;KRT18,upstream_gene_variant,,ENST00000548496,;,regulatory_region_variant,,ENSR00000052118,; T ENSG00000111057 ENST00000388837 Transcript missense_variant 163/1420 94/1293 32/430 A/S Gcg/Tcg rs74953757,COSV66315764 1 NA 1 KRT18 HGNC HGNC:6430 protein_coding YES CCDS31809.1 ENSP00000373489 P05783.223 A0A024RAY2.49 UPI000004284B NM_199187.1 tolerated(0.16) benign(0.033) 2/8 Low_complexity_(Seg):seg,PANTHER:PTHR23239,PANTHER:PTHR23239:SF349 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 5 NA 0,1 NA 1 . CGC . 83.6 NA NA NA NA NA NA NA NA NA 52949267 KRT18 3875 . GRCh38 chr12 52949275 52949275 + Missense_Mutation SNP C C A rs78343594 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.102C>A p.Ser34Arg p.S34R ENST00000388837 2/8 NA NA NA NA NA NA KRT18,missense_variant,p.Ser34Arg,ENST00000550600,;KRT18,missense_variant,p.Ser34Arg,ENST00000388837,NM_199187.1;KRT18,missense_variant,p.Ser34Arg,ENST00000388835,NM_000224.3;KRT8,intron_variant,,ENST00000546826,;KRT8,intron_variant,,ENST00000546897,NM_001256293.2;KRT8,intron_variant,,ENST00000548998,;KRT8,intron_variant,,ENST00000552551,;KRT8,intron_variant,,ENST00000619952,;KRT8,intron_variant,,ENST00000549198,;KRT8,intron_variant,,ENST00000551318,;KRT18,non_coding_transcript_exon_variant,,ENST00000549078,;KRT8,non_coding_transcript_exon_variant,,ENST00000546921,;KRT18,upstream_gene_variant,,ENST00000546656,;KRT18,upstream_gene_variant,,ENST00000548015,;KRT18,upstream_gene_variant,,ENST00000548496,;,regulatory_region_variant,,ENSR00000052118,; A ENSG00000111057 ENST00000388837 Transcript missense_variant 171/1420 102/1293 34/430 S/R agC/agA rs78343594,COSV66315769 1 NA 1 KRT18 HGNC HGNC:6430 protein_coding YES CCDS31809.1 ENSP00000373489 P05783.223 A0A024RAY2.49 UPI000004284B NM_199187.1 deleterious(0.04) benign(0.037) 2/8 Low_complexity_(Seg):seg,PANTHER:PTHR23239,PANTHER:PTHR23239:SF349 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 5 NA 0,1 NA 1 . GCG . 257.6 NA NA NA NA NA NA NA NA NA 52949275 KRT18 3875 . GRCh38 chr12 52949285 52949285 + Missense_Mutation SNP G G T rs77999286 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.112G>T p.Gly38Cys p.G38C ENST00000388837 2/8 NA NA NA NA NA NA KRT18,missense_variant,p.Gly38Cys,ENST00000550600,;KRT18,missense_variant,p.Gly38Cys,ENST00000388837,NM_199187.1;KRT18,missense_variant,p.Gly38Cys,ENST00000388835,NM_000224.3;KRT8,intron_variant,,ENST00000546826,;KRT8,intron_variant,,ENST00000546897,NM_001256293.2;KRT8,intron_variant,,ENST00000548998,;KRT8,intron_variant,,ENST00000552551,;KRT8,intron_variant,,ENST00000619952,;KRT8,intron_variant,,ENST00000549198,;KRT8,intron_variant,,ENST00000551318,;KRT18,non_coding_transcript_exon_variant,,ENST00000549078,;KRT8,non_coding_transcript_exon_variant,,ENST00000546921,;KRT18,upstream_gene_variant,,ENST00000546656,;KRT18,upstream_gene_variant,,ENST00000548015,;KRT18,upstream_gene_variant,,ENST00000548496,;,regulatory_region_variant,,ENSR00000052118,; T ENSG00000111057 ENST00000388837 Transcript missense_variant 181/1420 112/1293 38/430 G/C Ggc/Tgc rs77999286 1 NA 1 KRT18 HGNC HGNC:6430 protein_coding YES CCDS31809.1 ENSP00000373489 P05783.223 A0A024RAY2.49 UPI000004284B NM_199187.1 deleterious(0.02) possibly_damaging(0.84) 2/8 Low_complexity_(Seg):seg,PANTHER:PTHR23239,PANTHER:PTHR23239:SF349 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA 1 . AGG . 374.6 NA NA NA NA NA NA NA NA NA 52949285 KRT18 3875 . GRCh38 chr12 52949287 52949287 + Silent SNP C C T rs75380684 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.114C>T p.Gly38= p.G38= ENST00000388837 2/8 NA NA NA NA NA NA KRT18,synonymous_variant,p.Gly38=,ENST00000550600,;KRT18,synonymous_variant,p.Gly38=,ENST00000388837,NM_199187.1;KRT18,synonymous_variant,p.Gly38=,ENST00000388835,NM_000224.3;KRT8,intron_variant,,ENST00000546826,;KRT8,intron_variant,,ENST00000546897,NM_001256293.2;KRT8,intron_variant,,ENST00000548998,;KRT8,intron_variant,,ENST00000552551,;KRT8,intron_variant,,ENST00000619952,;KRT8,intron_variant,,ENST00000549198,;KRT8,intron_variant,,ENST00000551318,;KRT18,non_coding_transcript_exon_variant,,ENST00000549078,;KRT8,non_coding_transcript_exon_variant,,ENST00000546921,;KRT18,upstream_gene_variant,,ENST00000546656,;KRT18,upstream_gene_variant,,ENST00000548015,;KRT18,upstream_gene_variant,,ENST00000548496,;,regulatory_region_variant,,ENSR00000052118,; T ENSG00000111057 ENST00000388837 Transcript synonymous_variant 183/1420 114/1293 38/430 G ggC/ggT rs75380684 1 NA 1 KRT18 HGNC HGNC:6430 protein_coding YES CCDS31809.1 ENSP00000373489 P05783.223 A0A024RAY2.49 UPI000004284B NM_199187.1 2/8 Low_complexity_(Seg):seg,PANTHER:PTHR23239,PANTHER:PTHR23239:SF349 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA 1 . GCG . 416.6 NA NA NA NA NA NA NA NA NA 52949287 KRT18 3875 . GRCh38 chr12 52949290 52949290 + Silent SNP T T C rs75174163 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.117T>C p.Ala39= p.A39= ENST00000388837 2/8 NA NA NA NA NA NA KRT18,synonymous_variant,p.Ala39=,ENST00000550600,;KRT18,synonymous_variant,p.Ala39=,ENST00000388837,NM_199187.1;KRT18,synonymous_variant,p.Ala39=,ENST00000388835,NM_000224.3;KRT8,intron_variant,,ENST00000546826,;KRT8,intron_variant,,ENST00000546897,NM_001256293.2;KRT8,intron_variant,,ENST00000548998,;KRT8,intron_variant,,ENST00000552551,;KRT8,intron_variant,,ENST00000619952,;KRT8,intron_variant,,ENST00000549198,;KRT8,intron_variant,,ENST00000551318,;KRT18,non_coding_transcript_exon_variant,,ENST00000549078,;KRT8,non_coding_transcript_exon_variant,,ENST00000546921,;KRT18,upstream_gene_variant,,ENST00000546656,;KRT18,upstream_gene_variant,,ENST00000548015,;KRT18,upstream_gene_variant,,ENST00000548496,;,regulatory_region_variant,,ENSR00000052118,; C ENSG00000111057 ENST00000388837 Transcript synonymous_variant 186/1420 117/1293 39/430 A gcT/gcC rs75174163 1 NA 1 KRT18 HGNC HGNC:6430 protein_coding YES CCDS31809.1 ENSP00000373489 P05783.223 A0A024RAY2.49 UPI000004284B NM_199187.1 2/8 Low_complexity_(Seg):seg,PANTHER:PTHR23239,PANTHER:PTHR23239:SF349 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA 1 . CTG . 500.6 NA NA NA NA NA NA NA NA NA 52949290 KRT18 3875 . GRCh38 chr12 52949300 52949300 + Missense_Mutation SNP G G C rs75441140 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.127G>C p.Gly43Arg p.G43R ENST00000388837 2/8 NA NA NA NA NA NA KRT18,missense_variant,p.Gly43Arg,ENST00000550600,;KRT18,missense_variant,p.Gly43Arg,ENST00000388837,NM_199187.1;KRT18,missense_variant,p.Gly43Arg,ENST00000388835,NM_000224.3;KRT8,intron_variant,,ENST00000546826,;KRT8,intron_variant,,ENST00000546897,NM_001256293.2;KRT8,intron_variant,,ENST00000548998,;KRT8,intron_variant,,ENST00000552551,;KRT8,intron_variant,,ENST00000619952,;KRT8,intron_variant,,ENST00000549198,;KRT8,intron_variant,,ENST00000551318,;KRT18,non_coding_transcript_exon_variant,,ENST00000549078,;KRT8,non_coding_transcript_exon_variant,,ENST00000546921,;KRT18,upstream_gene_variant,,ENST00000546656,;KRT18,upstream_gene_variant,,ENST00000548015,;KRT18,upstream_gene_variant,,ENST00000548496,;,regulatory_region_variant,,ENSR00000052118,; C ENSG00000111057 ENST00000388837 Transcript missense_variant 196/1420 127/1293 43/430 G/R Ggt/Cgt rs75441140 1 NA 1 KRT18 HGNC HGNC:6430 protein_coding YES CCDS31809.1 ENSP00000373489 P05783.223 A0A024RAY2.49 UPI000004284B NM_199187.1 deleterious(0.03) benign(0.352) 2/8 Low_complexity_(Seg):seg,PANTHER:PTHR23239,PANTHER:PTHR23239:SF349 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA 1 . TGG . 524.6 NA NA NA NA NA NA NA NA NA 52949300 KRT18 3875 . GRCh38 chr12 52949314 52949314 + Silent SNP C C T rs80004568 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.141C>T p.Ser47= p.S47= ENST00000388837 2/8 NA NA NA NA NA NA KRT18,synonymous_variant,p.Ser47=,ENST00000550600,;KRT18,synonymous_variant,p.Ser47=,ENST00000388837,NM_199187.1;KRT18,synonymous_variant,p.Ser47=,ENST00000388835,NM_000224.3;KRT8,intron_variant,,ENST00000546826,;KRT8,intron_variant,,ENST00000546897,NM_001256293.2;KRT8,intron_variant,,ENST00000548998,;KRT8,intron_variant,,ENST00000552551,;KRT8,intron_variant,,ENST00000619952,;KRT8,intron_variant,,ENST00000549198,;KRT8,intron_variant,,ENST00000551318,;KRT18,non_coding_transcript_exon_variant,,ENST00000549078,;KRT8,non_coding_transcript_exon_variant,,ENST00000546921,;KRT18,upstream_gene_variant,,ENST00000546656,;KRT18,upstream_gene_variant,,ENST00000548015,;KRT18,upstream_gene_variant,,ENST00000548496,;,regulatory_region_variant,,ENSR00000052118,; T ENSG00000111057 ENST00000388837 Transcript synonymous_variant 210/1420 141/1293 47/430 S tcC/tcT rs80004568,COSV66315817 1 NA 1 KRT18 HGNC HGNC:6430 protein_coding YES CCDS31809.1 ENSP00000373489 P05783.223 A0A024RAY2.49 UPI000004284B NM_199187.1 2/8 Low_complexity_(Seg):seg,PANTHER:PTHR23239,PANTHER:PTHR23239:SF349 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA LOW 1 SNV 5 NA 0,1 NA 1 . CCG . 638.6 NA NA NA NA NA NA NA NA NA 52949314 KRT18 3875 . GRCh38 chr12 52949315 52949315 + Missense_Mutation SNP G G A rs1359140246 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.142G>A p.Val48Met p.V48M ENST00000388837 2/8 NA NA NA NA NA NA KRT18,missense_variant,p.Val48Met,ENST00000550600,;KRT18,missense_variant,p.Val48Met,ENST00000388837,NM_199187.1;KRT18,missense_variant,p.Val48Met,ENST00000388835,NM_000224.3;KRT8,intron_variant,,ENST00000546826,;KRT8,intron_variant,,ENST00000546897,NM_001256293.2;KRT8,intron_variant,,ENST00000548998,;KRT8,intron_variant,,ENST00000552551,;KRT8,intron_variant,,ENST00000619952,;KRT8,intron_variant,,ENST00000549198,;KRT8,intron_variant,,ENST00000551318,;KRT18,non_coding_transcript_exon_variant,,ENST00000549078,;KRT8,non_coding_transcript_exon_variant,,ENST00000546921,;KRT18,upstream_gene_variant,,ENST00000546656,;KRT18,upstream_gene_variant,,ENST00000548015,;KRT18,upstream_gene_variant,,ENST00000548496,;,regulatory_region_variant,,ENSR00000052118,; A ENSG00000111057 ENST00000388837 Transcript missense_variant 211/1420 142/1293 48/430 V/M Gtg/Atg rs1359140246,COSV66315822 1 NA 1 KRT18 HGNC HGNC:6430 protein_coding YES CCDS31809.1 ENSP00000373489 P05783.223 A0A024RAY2.49 UPI000004284B NM_199187.1 tolerated(0.37) benign(0.051) 2/8 Low_complexity_(Seg):seg,PANTHER:PTHR23239,PANTHER:PTHR23239:SF349 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 5 NA 0,1 NA 1 . CGT . 638.6 NA NA NA NA NA NA NA NA NA 52949315 KRT18 3875 . GRCh38 chr12 52949321 52949321 + Missense_Mutation SNP C C T rs78479490 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.148C>T p.Arg50Cys p.R50C ENST00000388837 2/8 NA NA NA NA NA NA KRT18,missense_variant,p.Arg50Cys,ENST00000550600,;KRT18,missense_variant,p.Arg50Cys,ENST00000388837,NM_199187.1;KRT18,missense_variant,p.Arg50Cys,ENST00000388835,NM_000224.3;KRT8,intron_variant,,ENST00000546826,;KRT8,intron_variant,,ENST00000546897,NM_001256293.2;KRT8,intron_variant,,ENST00000548998,;KRT8,intron_variant,,ENST00000552551,;KRT8,intron_variant,,ENST00000619952,;KRT8,intron_variant,,ENST00000549198,;KRT8,intron_variant,,ENST00000551318,;KRT18,non_coding_transcript_exon_variant,,ENST00000549078,;KRT8,non_coding_transcript_exon_variant,,ENST00000546921,;KRT18,upstream_gene_variant,,ENST00000546656,;KRT18,upstream_gene_variant,,ENST00000548015,;KRT18,upstream_gene_variant,,ENST00000548496,;,regulatory_region_variant,,ENSR00000052118,; T ENSG00000111057 ENST00000388837 Transcript missense_variant 217/1420 148/1293 50/430 R/C Cgc/Tgc rs78479490,COSV66315824 1 NA 1 KRT18 HGNC HGNC:6430 protein_coding YES CCDS31809.1 ENSP00000373489 P05783.223 A0A024RAY2.49 UPI000004284B NM_199187.1 tolerated(0.34) benign(0.001) 2/8 Low_complexity_(Seg):seg,PANTHER:PTHR23239,PANTHER:PTHR23239:SF349 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 5 NA 0,1 NA 1 . CCG . 671.6 4.101e-06 NA 2.905e-05 NA NA NA NA NA NA 52949321 KRT18 3875 . GRCh38 chr12 52949336 52949336 + Silent SNP A A C rs78718957 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.163A>C p.Arg55= p.R55= ENST00000388837 2/8 NA NA NA NA NA NA KRT18,synonymous_variant,p.Arg55=,ENST00000550600,;KRT18,synonymous_variant,p.Arg55=,ENST00000388837,NM_199187.1;KRT18,synonymous_variant,p.Arg55=,ENST00000388835,NM_000224.3;KRT8,intron_variant,,ENST00000546826,;KRT8,intron_variant,,ENST00000546897,NM_001256293.2;KRT8,intron_variant,,ENST00000548998,;KRT8,intron_variant,,ENST00000552551,;KRT8,intron_variant,,ENST00000619952,;KRT8,intron_variant,,ENST00000549198,;KRT8,intron_variant,,ENST00000551318,;KRT18,non_coding_transcript_exon_variant,,ENST00000549078,;KRT8,non_coding_transcript_exon_variant,,ENST00000546921,;KRT18,upstream_gene_variant,,ENST00000546656,;KRT18,upstream_gene_variant,,ENST00000548015,;KRT18,upstream_gene_variant,,ENST00000548496,;,regulatory_region_variant,,ENSR00000052118,; C ENSG00000111057 ENST00000388837 Transcript synonymous_variant 232/1420 163/1293 55/430 R Agg/Cgg rs78718957,COSV66315827 1 NA 1 KRT18 HGNC HGNC:6430 protein_coding YES CCDS31809.1 ENSP00000373489 P05783.223 A0A024RAY2.49 UPI000004284B NM_199187.1 2/8 Low_complexity_(Seg):seg,PANTHER:PTHR23239,PANTHER:PTHR23239:SF349 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA LOW 1 SNV 5 NA 0,1 NA 1 . CAG . 632.6 NA NA NA NA NA NA NA NA NA 52949336 KRT18 3875 . GRCh38 chr12 52949340 52949340 + Missense_Mutation SNP G G A rs76183244 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.167G>A p.Gly56Asp p.G56D ENST00000388837 2/8 NA NA NA NA NA NA KRT18,missense_variant,p.Gly56Asp,ENST00000550600,;KRT18,missense_variant,p.Gly56Asp,ENST00000388837,NM_199187.1;KRT18,missense_variant,p.Gly56Asp,ENST00000388835,NM_000224.3;KRT8,intron_variant,,ENST00000546826,;KRT8,intron_variant,,ENST00000546897,NM_001256293.2;KRT8,intron_variant,,ENST00000548998,;KRT8,intron_variant,,ENST00000552551,;KRT8,intron_variant,,ENST00000619952,;KRT8,intron_variant,,ENST00000549198,;KRT8,intron_variant,,ENST00000551318,;KRT18,non_coding_transcript_exon_variant,,ENST00000549078,;KRT8,non_coding_transcript_exon_variant,,ENST00000546921,;KRT18,upstream_gene_variant,,ENST00000546656,;KRT18,upstream_gene_variant,,ENST00000548015,;KRT18,upstream_gene_variant,,ENST00000548496,;,regulatory_region_variant,,ENSR00000052118,; A ENSG00000111057 ENST00000388837 Transcript missense_variant 236/1420 167/1293 56/430 G/D gGc/gAc rs76183244,COSV66315830,COSV66316544 1 NA 1 KRT18 HGNC HGNC:6430 protein_coding YES CCDS31809.1 ENSP00000373489 P05783.223 A0A024RAY2.49 UPI000004284B NM_199187.1 tolerated(0.07) benign(0.009) 2/8 Low_complexity_(Seg):seg,PANTHER:PTHR23239,PANTHER:PTHR23239:SF349 NA NA NA NA NA NA NA NA NA 0,1,1 NA NA NA NA MODERATE 1 SNV 5 NA 0,1,1 NA 1 . GGC . 635.6 2.456e-05 NA 8.715e-05 0.0001014 NA NA 1.822e-05 NA NA 52949340 KRT18 3875 . GRCh38 chr12 52949347 52949348 + Frame_Shift_Ins INS - - A rs1304463116 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.174_175insA p.Gly59ArgfsTer97 p.G59Rfs*97 ENST00000388837 2/8 NA NA NA NA NA NA KRT18,frameshift_variant,p.Gly59ArgfsTer97,ENST00000550600,;KRT18,frameshift_variant,p.Gly59ArgfsTer97,ENST00000388837,NM_199187.1;KRT18,frameshift_variant,p.Gly59ArgfsTer97,ENST00000388835,NM_000224.3;KRT8,intron_variant,,ENST00000546826,;KRT8,intron_variant,,ENST00000546897,NM_001256293.2;KRT8,intron_variant,,ENST00000548998,;KRT8,intron_variant,,ENST00000552551,;KRT8,intron_variant,,ENST00000619952,;KRT8,intron_variant,,ENST00000549198,;KRT8,intron_variant,,ENST00000551318,;KRT18,non_coding_transcript_exon_variant,,ENST00000549078,;KRT8,non_coding_transcript_exon_variant,,ENST00000546921,;KRT18,upstream_gene_variant,,ENST00000546656,;KRT18,upstream_gene_variant,,ENST00000548015,;KRT18,upstream_gene_variant,,ENST00000548496,;,regulatory_region_variant,,ENSR00000052118,;,TF_binding_site_variant,,ENSM00197429440,; A ENSG00000111057 ENST00000388837 Transcript frameshift_variant 243-244/1420 174-175/1293 58-59/430 -/X -/A rs1304463116 1 NA 1 KRT18 HGNC HGNC:6430 protein_coding YES CCDS31809.1 ENSP00000373489 P05783.223 A0A024RAY2.49 UPI000004284B NM_199187.1 2/8 Low_complexity_(Seg):seg,PANTHER:PTHR23239,PANTHER:PTHR23239:SF349 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 insertion 5 NA NA 1 . TGG . 716.64 NA NA NA NA NA NA NA NA NA 52949347 KRT18 3875 . GRCh38 chr12 52949348 52949348 + Missense_Mutation SNP G G T rs1317616802 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.175G>T p.Gly59Trp p.G59W ENST00000388837 2/8 NA NA NA NA NA NA KRT18,missense_variant,p.Gly59Trp,ENST00000550600,;KRT18,missense_variant,p.Gly59Trp,ENST00000388837,NM_199187.1;KRT18,missense_variant,p.Gly59Trp,ENST00000388835,NM_000224.3;KRT8,intron_variant,,ENST00000546826,;KRT8,intron_variant,,ENST00000546897,NM_001256293.2;KRT8,intron_variant,,ENST00000548998,;KRT8,intron_variant,,ENST00000552551,;KRT8,intron_variant,,ENST00000619952,;KRT8,intron_variant,,ENST00000549198,;KRT8,intron_variant,,ENST00000551318,;KRT18,non_coding_transcript_exon_variant,,ENST00000549078,;KRT8,non_coding_transcript_exon_variant,,ENST00000546921,;KRT18,upstream_gene_variant,,ENST00000546656,;KRT18,upstream_gene_variant,,ENST00000548015,;KRT18,upstream_gene_variant,,ENST00000548496,;,regulatory_region_variant,,ENSR00000052118,;,TF_binding_site_variant,,ENSM00197429440,; T ENSG00000111057 ENST00000388837 Transcript missense_variant 244/1420 175/1293 59/430 G/W Ggg/Tgg rs1317616802,COSV66315834,COSV66316063 1 NA 1 KRT18 HGNC HGNC:6430 protein_coding YES CCDS31809.1 ENSP00000373489 P05783.223 A0A024RAY2.49 UPI000004284B NM_199187.1 deleterious(0) possibly_damaging(0.571) 2/8 Low_complexity_(Seg):seg,PANTHER:PTHR23239,PANTHER:PTHR23239:SF349 NA NA NA NA NA NA NA NA NA 0,1,1 NA NA NA NA MODERATE 1 SNV 5 NA 0,1,1 NA 1 . GGG . 755.6 NA NA NA NA NA NA NA NA NA 52949348 KRT18 3875 . GRCh38 chr12 52949350 52949350 + Silent SNP G G T rs76187914 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.177G>T p.Gly59= p.G59= ENST00000388837 2/8 NA NA NA NA NA NA KRT18,synonymous_variant,p.Gly59=,ENST00000550600,;KRT18,synonymous_variant,p.Gly59=,ENST00000388837,NM_199187.1;KRT18,synonymous_variant,p.Gly59=,ENST00000388835,NM_000224.3;KRT8,intron_variant,,ENST00000546826,;KRT8,intron_variant,,ENST00000546897,NM_001256293.2;KRT8,intron_variant,,ENST00000548998,;KRT8,intron_variant,,ENST00000552551,;KRT8,intron_variant,,ENST00000619952,;KRT8,intron_variant,,ENST00000549198,;KRT8,intron_variant,,ENST00000551318,;KRT18,non_coding_transcript_exon_variant,,ENST00000549078,;KRT8,non_coding_transcript_exon_variant,,ENST00000546921,;KRT18,upstream_gene_variant,,ENST00000546656,;KRT18,upstream_gene_variant,,ENST00000548015,;KRT18,upstream_gene_variant,,ENST00000548496,;,regulatory_region_variant,,ENSR00000052118,;,TF_binding_site_variant,,ENSM00197429440,; T ENSG00000111057 ENST00000388837 Transcript synonymous_variant 246/1420 177/1293 59/430 G ggG/ggT rs76187914,COSV66315837 1 NA 1 KRT18 HGNC HGNC:6430 protein_coding YES CCDS31809.1 ENSP00000373489 P05783.223 A0A024RAY2.49 UPI000004284B NM_199187.1 2/8 Low_complexity_(Seg):seg,PANTHER:PTHR23239,PANTHER:PTHR23239:SF349 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA LOW 1 SNV 5 NA 0,1 NA 1 . GGT . 797.6 NA NA NA NA NA NA NA NA NA 52949350 KRT18 3875 . GRCh38 chr12 52949364 52949364 + Missense_Mutation SNP C C G rs1216443356 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.191C>G p.Ala64Gly p.A64G ENST00000388837 2/8 NA NA NA NA NA NA KRT18,missense_variant,p.Ala64Gly,ENST00000550600,;KRT18,missense_variant,p.Ala64Gly,ENST00000388837,NM_199187.1;KRT18,missense_variant,p.Ala64Gly,ENST00000388835,NM_000224.3;KRT8,intron_variant,,ENST00000546826,;KRT8,intron_variant,,ENST00000546897,NM_001256293.2;KRT8,intron_variant,,ENST00000548998,;KRT8,intron_variant,,ENST00000552551,;KRT8,intron_variant,,ENST00000619952,;KRT8,intron_variant,,ENST00000549198,;KRT8,intron_variant,,ENST00000551318,;KRT18,non_coding_transcript_exon_variant,,ENST00000549078,;KRT8,non_coding_transcript_exon_variant,,ENST00000546921,;KRT18,upstream_gene_variant,,ENST00000546656,;KRT18,upstream_gene_variant,,ENST00000548015,;KRT18,upstream_gene_variant,,ENST00000548496,;,regulatory_region_variant,,ENSR00000052118,;,TF_binding_site_variant,,ENSM00197429440,; G ENSG00000111057 ENST00000388837 Transcript missense_variant 260/1420 191/1293 64/430 A/G gCc/gGc rs1216443356,COSV66315772 1 NA 1 KRT18 HGNC HGNC:6430 protein_coding YES CCDS31809.1 ENSP00000373489 P05783.223 A0A024RAY2.49 UPI000004284B NM_199187.1 tolerated(0.59) benign(0.001) 2/8 Low_complexity_(Seg):seg,PANTHER:PTHR23239,PANTHER:PTHR23239:SF349 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 5 NA 0,1 NA 1 . GCC . 710.6 NA NA NA NA NA NA NA NA NA 52949364 KRT18 3875 . GRCh38 chr12 52949368 52949368 + Silent SNP C C G rs79913669 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.195C>G p.Thr65= p.T65= ENST00000388837 2/8 NA NA NA NA NA NA KRT18,synonymous_variant,p.Thr65=,ENST00000550600,;KRT18,synonymous_variant,p.Thr65=,ENST00000388837,NM_199187.1;KRT18,synonymous_variant,p.Thr65=,ENST00000388835,NM_000224.3;KRT8,intron_variant,,ENST00000546826,;KRT8,intron_variant,,ENST00000546897,NM_001256293.2;KRT8,intron_variant,,ENST00000548998,;KRT8,intron_variant,,ENST00000552551,;KRT8,intron_variant,,ENST00000619952,;KRT8,intron_variant,,ENST00000549198,;KRT8,intron_variant,,ENST00000551318,;KRT18,non_coding_transcript_exon_variant,,ENST00000549078,;KRT8,non_coding_transcript_exon_variant,,ENST00000546921,;KRT18,upstream_gene_variant,,ENST00000546656,;KRT18,upstream_gene_variant,,ENST00000548015,;KRT18,upstream_gene_variant,,ENST00000548496,;,regulatory_region_variant,,ENSR00000052118,;,TF_binding_site_variant,,ENSM00197429440,; G ENSG00000111057 ENST00000388837 Transcript synonymous_variant 264/1420 195/1293 65/430 T acC/acG rs79913669,COSV66316123 1 NA 1 KRT18 HGNC HGNC:6430 protein_coding YES CCDS31809.1 ENSP00000373489 P05783.223 A0A024RAY2.49 UPI000004284B NM_199187.1 2/8 Low_complexity_(Seg):seg,PANTHER:PTHR23239,PANTHER:PTHR23239:SF349 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA LOW 1 SNV 5 NA 0,1 NA 1 . CCG . 662.6 NA NA NA NA NA NA NA NA NA 52949368 KRT18 3875 . GRCh38 chr12 52949374 52949374 + Missense_Mutation SNP A A G rs77364359 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.201A>G p.Ile67Met p.I67M ENST00000388837 2/8 NA NA NA NA NA NA KRT18,missense_variant,p.Ile67Met,ENST00000550600,;KRT18,missense_variant,p.Ile67Met,ENST00000388837,NM_199187.1;KRT18,missense_variant,p.Ile67Met,ENST00000388835,NM_000224.3;KRT8,intron_variant,,ENST00000546826,;KRT8,intron_variant,,ENST00000546897,NM_001256293.2;KRT8,intron_variant,,ENST00000548998,;KRT8,intron_variant,,ENST00000552551,;KRT8,intron_variant,,ENST00000619952,;KRT8,intron_variant,,ENST00000549198,;KRT8,intron_variant,,ENST00000551318,;KRT18,non_coding_transcript_exon_variant,,ENST00000549078,;KRT8,non_coding_transcript_exon_variant,,ENST00000546921,;KRT18,upstream_gene_variant,,ENST00000546656,;KRT18,upstream_gene_variant,,ENST00000548015,;KRT18,upstream_gene_variant,,ENST00000548496,;,regulatory_region_variant,,ENSR00000052118,; G ENSG00000111057 ENST00000388837 Transcript missense_variant 270/1420 201/1293 67/430 I/M atA/atG rs77364359,COSV66315776 1 NA 1 KRT18 HGNC HGNC:6430 protein_coding YES CCDS31809.1 ENSP00000373489 P05783.223 A0A024RAY2.49 UPI000004284B NM_199187.1 tolerated(1) benign(0) 2/8 Low_complexity_(Seg):seg,PANTHER:PTHR23239,PANTHER:PTHR23239:SF349 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 5 NA 0,1 NA 1 . TAG . 640.6 NA NA NA NA NA NA NA NA NA 52949374 KRT18 3875 . GRCh38 chr12 52949441 52949441 + Missense_Mutation SNP C C T rs1397020078 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.268C>T p.Arg90Cys p.R90C ENST00000388837 2/8 NA NA NA NA NA NA KRT18,missense_variant,p.Arg90Cys,ENST00000550600,;KRT18,missense_variant,p.Arg90Cys,ENST00000388837,NM_199187.1;KRT18,missense_variant,p.Arg90Cys,ENST00000388835,NM_000224.3;KRT8,intron_variant,,ENST00000546826,;KRT8,intron_variant,,ENST00000546897,NM_001256293.2;KRT8,intron_variant,,ENST00000548998,;KRT8,intron_variant,,ENST00000552551,;KRT8,intron_variant,,ENST00000619952,;KRT8,intron_variant,,ENST00000549198,;KRT8,intron_variant,,ENST00000551318,;KRT18,non_coding_transcript_exon_variant,,ENST00000549078,;KRT8,non_coding_transcript_exon_variant,,ENST00000546921,;KRT18,upstream_gene_variant,,ENST00000546656,;KRT18,upstream_gene_variant,,ENST00000548015,;KRT18,upstream_gene_variant,,ENST00000548496,;,regulatory_region_variant,,ENSR00000052118,; T ENSG00000111057 ENST00000388837 Transcript missense_variant 337/1420 268/1293 90/430 R/C Cgc/Tgc rs1397020078,COSV66315783 1 NA 1 KRT18 HGNC HGNC:6430 protein_coding YES CCDS31809.1 ENSP00000373489 P05783.223 A0A024RAY2.49 UPI000004284B NM_199187.1 tolerated(0.3) benign(0.003) 2/8 Coiled-coils_(Ncoils):Coil,PROSITE_profiles:PS51842,PANTHER:PTHR23239,PANTHER:PTHR23239:SF349,Pfam:PF00038,SMART:SM01391,Superfamily:SSF64593 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 5 NA 0,1 NA 1 . CCG . 436.6 NA NA NA NA NA NA NA NA NA 52949441 KRT18 3875 . GRCh38 chr12 52949447 52949447 + Missense_Mutation SNP G G C rs1434610693 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.274G>C p.Ala92Pro p.A92P ENST00000388837 2/8 NA NA NA NA NA NA KRT18,missense_variant,p.Ala92Pro,ENST00000550600,;KRT18,missense_variant,p.Ala92Pro,ENST00000388837,NM_199187.1;KRT18,missense_variant,p.Ala92Pro,ENST00000388835,NM_000224.3;KRT8,intron_variant,,ENST00000546826,;KRT8,intron_variant,,ENST00000546897,NM_001256293.2;KRT8,intron_variant,,ENST00000548998,;KRT8,intron_variant,,ENST00000552551,;KRT8,intron_variant,,ENST00000619952,;KRT8,intron_variant,,ENST00000549198,;KRT8,intron_variant,,ENST00000551318,;KRT18,non_coding_transcript_exon_variant,,ENST00000549078,;KRT8,non_coding_transcript_exon_variant,,ENST00000546921,;KRT18,upstream_gene_variant,,ENST00000546656,;KRT18,upstream_gene_variant,,ENST00000548015,;KRT18,upstream_gene_variant,,ENST00000548496,;,regulatory_region_variant,,ENSR00000052118,; C ENSG00000111057 ENST00000388837 Transcript missense_variant 343/1420 274/1293 92/430 A/P Gcc/Ccc rs1434610693,COSV66315787 1 NA 1 KRT18 HGNC HGNC:6430 protein_coding YES CCDS31809.1 ENSP00000373489 P05783.223 A0A024RAY2.49 UPI000004284B NM_199187.1 deleterious(0.01) probably_damaging(0.992) 2/8 Coiled-coils_(Ncoils):Coil,PROSITE_profiles:PS51842,PANTHER:PTHR23239,PANTHER:PTHR23239:SF349,Pfam:PF00038,SMART:SM01391,Superfamily:SSF64593 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 5 NA 0,1 NA 1 . GGC . 356.6 NA NA NA NA NA NA NA NA NA 52949447 KRT18 3875 . GRCh38 chr12 52949452 52949452 + Silent SNP T T C rs1274441737 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.279T>C p.Ser93= p.S93= ENST00000388837 2/8 NA NA NA NA NA NA KRT8,splice_region_variant,,ENST00000546826,;KRT8,splice_region_variant,,ENST00000548998,;KRT8,splice_region_variant,,ENST00000552551,;KRT8,splice_region_variant,,ENST00000619952,;KRT18,synonymous_variant,p.Ser93=,ENST00000550600,;KRT18,synonymous_variant,p.Ser93=,ENST00000388837,NM_199187.1;KRT18,synonymous_variant,p.Ser93=,ENST00000388835,NM_000224.3;KRT8,intron_variant,,ENST00000546897,NM_001256293.2;KRT8,splice_region_variant,,ENST00000549198,;KRT8,splice_region_variant,,ENST00000551318,;KRT18,non_coding_transcript_exon_variant,,ENST00000549078,;KRT8,non_coding_transcript_exon_variant,,ENST00000546921,;KRT18,upstream_gene_variant,,ENST00000546656,;KRT18,upstream_gene_variant,,ENST00000548015,;KRT18,upstream_gene_variant,,ENST00000548496,;,regulatory_region_variant,,ENSR00000052118,; C ENSG00000111057 ENST00000388837 Transcript synonymous_variant 348/1420 279/1293 93/430 S tcT/tcC rs1274441737,COSV66316102 1 NA 1 KRT18 HGNC HGNC:6430 protein_coding YES CCDS31809.1 ENSP00000373489 P05783.223 A0A024RAY2.49 UPI000004284B NM_199187.1 2/8 Coiled-coils_(Ncoils):Coil,PROSITE_profiles:PS51842,PANTHER:PTHR23239,PANTHER:PTHR23239:SF349,Pfam:PF00038,SMART:SM01391,Superfamily:SSF64593 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA LOW 1 SNV 5 NA 0,1 NA 1 . CTT . 356.6 NA NA NA NA NA NA NA NA NA 52949452 ITGB7 3695 . GRCh38 chr12 53191911 53191911 + Missense_Mutation SNP C C T rs755135151 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2264G>A p.Arg755His p.R755H ENST00000267082 15/16 NA NA NA NA NA NA ITGB7,missense_variant,p.Arg755His,ENST00000267082,NM_000889.3;ITGB7,missense_variant,p.Arg755His,ENST00000422257,;ITGB7,missense_variant,p.Arg607His,ENST00000550743,;ITGB7,missense_variant,p.Arg90His,ENST00000551319,;ZNF740,3_prime_UTR_variant,,ENST00000416904,NM_001004304.4;ZNF740,downstream_gene_variant,,ENST00000551514,;ITGB7,3_prime_UTR_variant,,ENST00000542497,;ITGB7,downstream_gene_variant,,ENST00000548269,;ITGB7,downstream_gene_variant,,ENST00000548706,;ITGB7,downstream_gene_variant,,ENST00000549196,;ITGB7,downstream_gene_variant,,ENST00000549462,;ITGB7,downstream_gene_variant,,ENST00000551887,;ITGB7,downstream_gene_variant,,ENST00000589179,; T ENSG00000139626 ENST00000267082 Transcript missense_variant 2440/2806 2264/2397 755/798 R/H cGc/cAc rs755135151,COSV99913892 1 NA -1 ITGB7 HGNC HGNC:6162 protein_coding YES CCDS8849.1 ENSP00000267082 P26010.202 UPI0000000DF7 NM_000889.3 deleterious(0.01) probably_damaging(0.989) 15/16 PANTHER:PTHR10082:SF36,PANTHER:PTHR10082,PIRSF:PIRSF002512,Pfam:PF08725,Gene3D:1.20.5.100,SMART:SM01241,Prints:PR01186 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 1 NA 0,1 NA NA . GCG . 4511.6 1.6e-05 6.152e-05 NA NA 0.0001087 NA 8.794e-06 NA NA 53191911 ESPL1 9700 . GRCh38 chr12 53289191 53289191 + Silent SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4810C>T p.Leu1604= p.L1604= ENST00000257934 21/31 NA NA NA NA NA NA ESPL1,synonymous_variant,p.Leu1604=,ENST00000257934,NM_012291.5;ESPL1,3_prime_UTR_variant,,ENST00000552671,;ESPL1,non_coding_transcript_exon_variant,,ENST00000549154,;ESPL1,non_coding_transcript_exon_variant,,ENST00000553016,;ESPL1,non_coding_transcript_exon_variant,,ENST00000552600,;ESPL1,downstream_gene_variant,,ENST00000535123,;,regulatory_region_variant,,ENSR00000458451,;,regulatory_region_variant,,ENSR00000968469,; T ENSG00000135476 ENST00000257934 Transcript synonymous_variant 4901/6618 4810/6363 1604/2120 L Ctg/Ttg 1 NA 1 ESPL1 HGNC HGNC:16856 protein_coding YES CCDS8852.1 ENSP00000257934 Q14674.185 UPI00003668C3 NM_012291.5 21/31 PANTHER:PTHR12792 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . CCT . 4378.6 NA NA NA NA NA NA NA NA NA 53289191 AMHR2 269 . GRCh38 chr12 53430217 53430217 + Missense_Mutation SNP T T C novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1360T>C p.Trp454Arg p.W454R ENST00000257863 10/11 NA NA NA NA NA NA AMHR2,missense_variant,p.Trp454Arg,ENST00000257863,NM_020547.3;AMHR2,missense_variant,p.Trp151Arg,ENST00000550839,;AMHR2,synonymous_variant,p.Tyr452=,ENST00000550311,NM_001164690.2;AMHR2,intron_variant,,ENST00000379791,NM_001164691.2;AMHR2,non_coding_transcript_exon_variant,,ENST00000552233,;AMHR2,downstream_gene_variant,,ENST00000548303,;,regulatory_region_variant,,ENSR00000458487,; C ENSG00000135409 ENST00000257863 Transcript missense_variant 1440/2001 1360/1722 454/573 W/R Tgg/Cgg 1 NA 1 AMHR2 HGNC HGNC:465 protein_coding YES CCDS8858.1 ENSP00000257863 Q16671.199 UPI0000125970 NM_020547.3 tolerated(0.88) probably_damaging(0.977) 10/11 PROSITE_profiles:PS50011,CDD:cd14054,PANTHER:PTHR23255,PANTHER:PTHR23255:SF49,Pfam:PF00069,PIRSF:PIRSF037392,Gene3D:1.10.510.10,Superfamily:SSF56112 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . ATG . 2146.6 NA NA NA NA NA NA NA NA NA 53430217 HOXC6 3223 . GRCh38 chr12 54028818 54028818 + Silent SNP A A G novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.297A>G p.Ser99= p.S99= ENST00000243108 1/2 NA NA NA NA NA NA HOXC6,synonymous_variant,p.Ser17=,ENST00000394331,NM_153693.5;HOXC6,synonymous_variant,p.Ser99=,ENST00000243108,NM_004503.4;HOXC6,synonymous_variant,p.Ser17=,ENST00000504315,;HOXC6,synonymous_variant,p.Ser17=,ENST00000509328,;HOXC4,intron_variant,,ENST00000303406,NM_014620.6;AC012531.3,intron_variant,,ENST00000513209,;HOXC5,upstream_gene_variant,,ENST00000312492,NM_018953.3;AC012531.2,intron_variant,,ENST00000512206,;,regulatory_region_variant,,ENSR00000458662,; G ENSG00000197757 ENST00000243108 Transcript synonymous_variant 379/1651 297/708 99/235 S tcA/tcG 1 NA 1 HOXC6 HGNC HGNC:5128 protein_coding YES CCDS8871.1 ENSP00000243108 P09630.195 UPI0000020BA4 NM_004503.4 1/2 PANTHER:PTHR45659:SF1,PANTHER:PTHR45659 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . CAA . 2831.6 NA NA NA NA NA NA NA NA NA 54028818 NCKAP1L 3071 . GRCh38 chr12 54516917 54516917 + Silent SNP G G A NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1020G>A p.Arg340= p.R340= ENST00000293373 11/31 NA NA NA NA NA NA NCKAP1L,synonymous_variant,p.Arg340=,ENST00000293373,NM_005337.5;NCKAP1L,synonymous_variant,p.Arg290=,ENST00000545638,NM_001184976.2;NCKAP1L,non_coding_transcript_exon_variant,,ENST00000552211,;NCKAP1L,synonymous_variant,p.Arg340=,ENST00000548221,;NCKAP1L,downstream_gene_variant,,ENST00000548916,;NCKAP1L,upstream_gene_variant,,ENST00000549451,; A ENSG00000123338 ENST00000293373 Transcript synonymous_variant 1058/8980 1020/3384 340/1127 R cgG/cgA COSV53204123 1 NA 1 NCKAP1L HGNC HGNC:4862 protein_coding YES CCDS31813.1 ENSP00000293373 P55160.153 UPI00001C0439 NM_005337.5 11/31 PANTHER:PTHR12093:SF9,PANTHER:PTHR12093,Pfam:PF09735 NA NA NA NA NA NA NA NA NA 1 NA NA NA NA LOW 1 SNV 1 NA 1 NA NA . GGC . 2894.6 NA NA NA NA NA NA NA NA NA 54516917 TESPA1 9840 . GRCh38 chr12 54962858 54962858 + Frame_Shift_Del DEL G G - novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1040del p.Pro347LeufsTer30 p.P347Lfs*30 ENST00000449076 9/11 NA NA NA NA NA NA TESPA1,frameshift_variant,p.Pro209LeufsTer30,ENST00000524622,NM_001261844.1,NM_001351150.1,NM_001351155.1,NM_001351153.1,NM_001351154.1,NM_014796.2;TESPA1,frameshift_variant,p.Pro347LeufsTer30,ENST00000449076,NM_001136030.3,NM_001351149.2;TESPA1,frameshift_variant,p.Pro209LeufsTer30,ENST00000532804,NM_001351152.1,NM_001351151.1,NM_001351148.1;TESPA1,frameshift_variant,p.Pro347LeufsTer30,ENST00000316577,NM_001098815.3;TESPA1,frameshift_variant,p.Pro209LeufsTer30,ENST00000531122,;TESPA1,intron_variant,,ENST00000532757,;TESPA1,downstream_gene_variant,,ENST00000524668,;TESPA1,downstream_gene_variant,,ENST00000526532,;TESPA1,upstream_gene_variant,,ENST00000528240,;TESPA1,downstream_gene_variant,,ENST00000533446,;TESPA1,downstream_gene_variant,,ENST00000524959,;TESPA1,3_prime_UTR_variant,,ENST00000524923,;TESPA1,downstream_gene_variant,,ENST00000525978,; - ENSG00000135426 ENST00000449076 Transcript frameshift_variant 1263/4166 1040/1566 347/521 P/X cCt/ct 1 NA -1 TESPA1 HGNC HGNC:29109 protein_coding YES CCDS44913.1 ENSP00000400892 A2RU30.101 A0A024RB73.45 UPI00001FC438 NM_001136030.3,NM_001351149.2 9/11 PANTHER:PTHR17469:SF1,PANTHER:PTHR17469,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 2 NA NA NA . CAGG . 4415.6 NA NA NA NA NA NA NA NA NA 54962857 OR6C75 390323 . GRCh38 chr12 55365702 55365702 + Frame_Shift_Del DEL T T - rs746200712 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.599del p.Leu200Ter p.L200* ENST00000641576 3/3 NA NA NA NA NA NA OR6C75,frameshift_variant,p.Leu200Ter,ENST00000641576,;OR6C75,frameshift_variant,p.Leu200Ter,ENST00000343399,NM_001005497.1;OR6C75,non_coding_transcript_exon_variant,,ENST00000641988,;OR6C75,intron_variant,,ENST00000641678,; - ENSG00000187857 ENST00000641576 Transcript frameshift_variant 992/4569 592/939 198/312 F/X Ttt/tt rs746200712 1 NA 1 OR6C75 HGNC HGNC:31304 protein_coding YES CCDS31820.1 ENSP00000493430 A6NL08.103 A0A126GW92.29 UPI000023786C 3/3 Gene3D:1.20.1070.10,Pfam:PF13853,Prints:PR00237,PROSITE_profiles:PS50262,PANTHER:PTHR26454,PANTHER:PTHR26454:SF79,Superfamily:SSF81321,Transmembrane_helices:TMhelix,CDD:cd15912 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion NA 7 NA NA . CATT . 4361.6 1.196e-05 NA NA NA 5.438e-05 NA 1.765e-05 NA NA 55365701 OR6C70 390327 . GRCh38 chr12 55469835 55469835 + Frame_Shift_Del DEL A A - novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.304del p.Tyr102ThrfsTer12 p.Y102Tfs*12 ENST00000327335 1/1 NA NA NA NA NA NA OR6C70,frameshift_variant,p.Tyr102ThrfsTer12,ENST00000327335,NM_001005499.1;AC122685.1,intron_variant,,ENST00000554049,;AC122685.1,intron_variant,,ENST00000555138,;AC122685.1,intron_variant,,ENST00000555146,;AC122685.1,intron_variant,,ENST00000556750,; - ENSG00000184954 ENST00000327335 Transcript frameshift_variant 304/939 304/939 102/312 Y/X Tac/ac 1 NA -1 OR6C70 HGNC HGNC:31299 protein_coding YES CCDS31825.1 ENSP00000329153 A6NIJ9.102 UPI000044D40E NM_001005499.1 1/1 Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,CDD:cd15912,PANTHER:PTHR26454,PANTHER:PTHR26454:SF17,Pfam:PF13853,Gene3D:1.20.1070.10,Superfamily:SSF81321,Prints:PR00237 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH NA deletion NA NA NA NA . GTAA . 3629.6 NA NA NA NA NA NA NA NA NA 55469834 SMARCC2 6601 . GRCh38 chr12 56163751 56163751 + Frame_Shift_Del DEL G G - rs1224281535 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3676del p.Leu1226CysfsTer88 p.L1226Cfs*88 ENST00000550164 29/29 NA NA NA NA NA NA SMARCC2,frameshift_variant,p.Leu1226CysfsTer88,ENST00000550164,NM_001330288.2;SMARCC2,frameshift_variant,p.Leu1133CysfsTer88,ENST00000394023,NM_001130420.3;SMARCC2,frameshift_variant,p.Leu1195CysfsTer88,ENST00000267064,NM_003075.5;SMARCC2,frameshift_variant,p.Leu1111CysfsTer88,ENST00000347471,NM_139067.4;MYL6,downstream_gene_variant,,ENST00000293422,;MYL6,downstream_gene_variant,,ENST00000348108,;MYL6,downstream_gene_variant,,ENST00000536128,;MYL6,downstream_gene_variant,,ENST00000547408,;MYL6,downstream_gene_variant,,ENST00000547649,NM_079423.4;MYL6,downstream_gene_variant,,ENST00000548293,;MYL6,downstream_gene_variant,,ENST00000548400,;MYL6,downstream_gene_variant,,ENST00000548580,;MYL6,downstream_gene_variant,,ENST00000549017,;MYL6,downstream_gene_variant,,ENST00000549392,;MYL6,downstream_gene_variant,,ENST00000549566,;MYL6,downstream_gene_variant,,ENST00000550697,NM_021019.5;MYL6,downstream_gene_variant,,ENST00000551589,;AC073896.4,intron_variant,,ENST00000553176,;MYL6B,downstream_gene_variant,,ENST00000548571,;MYL6,downstream_gene_variant,,ENST00000550639,;MYL6,downstream_gene_variant,,ENST00000551954,;MYL6,downstream_gene_variant,,ENST00000552297,;SMARCC2,3_prime_UTR_variant,,ENST00000552674,;MYL6,downstream_gene_variant,,ENST00000546630,;MYL6,downstream_gene_variant,,ENST00000546845,;MYL6,downstream_gene_variant,,ENST00000547703,;MYL6,downstream_gene_variant,,ENST00000548725,;MYL6,downstream_gene_variant,,ENST00000550184,;,regulatory_region_variant,,ENSR00000968807,; - ENSG00000139613 ENST00000550164 Transcript frameshift_variant 3698/5090 3676/3738 1226/1245 L/X Ctg/tg rs1224281535 1 NA -1 SMARCC2 HGNC HGNC:11105 protein_coding YES CCDS81698.1 ENSP00000449396 F8VXC8.76 UPI00020CE249 NM_001330288.2 29/29 Low_complexity_(Seg):seg,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH NA deletion 5 NA NA 1 . CAGG . 4909.6 6.146e-05 NA 0.0001552 NA 0.000117 0.0001088 4.777e-05 0.0002996 NA 56163750 TIMELESS 8914 . GRCh38 chr12 56434150 56434150 + Silent SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.21C>T p.Asn7= p.N7= ENST00000553532 2/29 NA NA NA NA NA NA TIMELESS,synonymous_variant,p.Asn7=,ENST00000553532,NM_003920.5;TIMELESS,synonymous_variant,p.Asn7=,ENST00000229201,NM_001330295.2;,regulatory_region_variant,,ENSR00000968827,; A ENSG00000111602 ENST00000553532 Transcript synonymous_variant 199/5158 21/3627 7/1208 N aaC/aaT 1 NA -1 TIMELESS HGNC HGNC:11813 protein_coding YES CCDS8918.1 ENSP00000450607 Q9UNS1.166 UPI000013C8EA NM_003920.5 2/29 PDB-ENSP_mappings:5mqi.A,PANTHER:PTHR22940,PANTHER:PTHR22940:SF4 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . AGT . 1614.6 NA NA NA NA NA NA NA NA NA 56434150 GLS2 27165 . GRCh38 chr12 56474661 56474661 + Silent SNP G G A rs140798971 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1107C>T p.Asn369= p.N369= ENST00000311966 12/18 NA NA NA NA NA NA GLS2,synonymous_variant,p.Asn104=,ENST00000623608,NM_001280797.1,NM_001280796.2;GLS2,synonymous_variant,p.Asn369=,ENST00000311966,NM_013267.4;GLS2,synonymous_variant,p.Asn104=,ENST00000610413,NM_001280798.1;SPRYD4,3_prime_UTR_variant,,ENST00000338146,NM_207344.4;GLS2,3_prime_UTR_variant,,ENST00000539272,;GLS2,downstream_gene_variant,,ENST00000461077,;GLS2,non_coding_transcript_exon_variant,,ENST00000476991,;GLS2,3_prime_UTR_variant,,ENST00000486433,;GLS2,3_prime_UTR_variant,,ENST00000424141,;GLS2,3_prime_UTR_variant,,ENST00000479952,;GLS2,non_coding_transcript_exon_variant,,ENST00000496006,;AC097104.1,intron_variant,,ENST00000648304,;GLS2,upstream_gene_variant,,ENST00000390288,;GLS2,downstream_gene_variant,,ENST00000471282,;GLS2,downstream_gene_variant,,ENST00000483347,;GLS2,downstream_gene_variant,,ENST00000486896,;GLS2,downstream_gene_variant,,ENST00000491880,;GLS2,downstream_gene_variant,,ENST00000494345,;GLS2,downstream_gene_variant,,ENST00000494474,; A ENSG00000135423 ENST00000311966 Transcript synonymous_variant 1150/2387 1107/1809 369/602 N aaC/aaT rs140798971 1 NA -1 GLS2 HGNC HGNC:29570 protein_coding YES CCDS8921.1 ENSP00000310447 Q9UI32.182 UPI0000061E10 NM_013267.4 12/18 PDB-ENSP_mappings:4bqm.A,PDB-ENSP_mappings:4bqm.B,HAMAP:MF_00313,PANTHER:PTHR12544:SF33,PANTHER:PTHR12544,Pfam:PF04960,Gene3D:3.40.710.10,TIGRFAM:TIGR03814,Superfamily:SSF56601 NA NA NA NA NA NA NA 0.000227 0.0001163 NA NA NA NA LOW 1 SNV 1 NA NA NA . CGT . 4698.6 4.393e-05 6.157e-05 NA NA NA NA 7.079e-05 NA 6.545e-05 56474661 PTGES3 10728 . GRCh38 chr12 56686881 56686882 + Frame_Shift_Del DEL AT AT - rs10579382 NA HCI-EC-23 NORMAL AT AT NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1_2del p.Met1? p.M1? ENST00000614328 2/9 NA NA NA NA NA NA PTGES3,frameshift_variant,p.Met1?,ENST00000614328,NM_001282604.1;PTGES3,intron_variant,,ENST00000262033,NM_006601.7;PTGES3,intron_variant,,ENST00000414274,NM_001282605.2,NM_001282602.2;PTGES3,intron_variant,,ENST00000436399,NM_001282603.2;PTGES3,intron_variant,,ENST00000448157,NM_001282601.2;PTGES3,intron_variant,,ENST00000456859,;PTGES3,intron_variant,,ENST00000537473,;,regulatory_region_variant,,ENSR00000052539,; - ENSG00000110958 ENST00000614328 Transcript frameshift_variant,start_lost 447-448/2077 1-2/495 1/164 M/X ATg/g rs10579382 1 NA -1 PTGES3 HGNC HGNC:16049 protein_coding YES CCDS73485.1 ENSP00000482075 A0A087WYT3.50 UPI00020A9F9B NM_001282604.1 2/9 NA 0.2648 0.6599 NA 0.744 0.6461 0.7771 NA NA NA NA NA NA HIGH 1 deletion 3 NA NA NA . ACATA . 6934.03 NA NA NA NA NA NA NA NA NA 56686880 NXPH4 11247 . GRCh38 chr12 57225116 57225116 + Missense_Mutation SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.296C>T p.Ala99Val p.A99V ENST00000349394 2/2 NA NA NA NA NA NA NXPH4,missense_variant,p.Ala99Val,ENST00000349394,NM_007224.4;SHMT2,upstream_gene_variant,,ENST00000328923,NM_005412.6;SHMT2,upstream_gene_variant,,ENST00000414700,NM_001166358.2;SHMT2,upstream_gene_variant,,ENST00000555634,;SHMT2,upstream_gene_variant,,ENST00000556689,;SHMT2,upstream_gene_variant,,ENST00000557487,NM_001166356.2;SHMT2,upstream_gene_variant,,ENST00000557703,;AC137834.2,downstream_gene_variant,,ENST00000617433,;NXPH4,non_coding_transcript_exon_variant,,ENST00000555154,;SHMT2,upstream_gene_variant,,ENST00000554600,;SHMT2,upstream_gene_variant,,ENST00000557740,;NXPH4,3_prime_UTR_variant,,ENST00000556415,;SHMT2,upstream_gene_variant,,ENST00000553324,;SHMT2,upstream_gene_variant,,ENST00000553950,;SHMT2,upstream_gene_variant,,ENST00000554467,;SHMT2,upstream_gene_variant,,ENST00000555563,;SHMT2,upstream_gene_variant,,ENST00000556825,;SHMT2,upstream_gene_variant,,ENST00000557269,;SHMT2,upstream_gene_variant,,ENST00000557348,;SHMT2,upstream_gene_variant,,ENST00000557433,;,regulatory_region_variant,,ENSR00000268612,; T ENSG00000182379 ENST00000349394 Transcript missense_variant 472/1805 296/927 99/308 A/V gCg/gTg 1 NA 1 NXPH4 HGNC HGNC:8078 protein_coding YES CCDS8933.1 ENSP00000333593 O95158.147 UPI000004C619 NM_007224.4 deleterious(0.05) possibly_damaging(0.825) 2/2 Pfam:PF06312,PIRSF:PIRSF038019,PANTHER:PTHR17103,PANTHER:PTHR17103:SF10 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . GCG . 2153.6 NA NA NA NA NA NA NA NA NA 57225116 GLI1 2735 . GRCh38 chr12 57470435 57470435 + Frame_Shift_Del DEL C C - novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1700del p.Pro567LeufsTer46 p.P567Lfs*46 ENST00000228682 12/12 NA NA NA NA NA NA GLI1,frameshift_variant,p.Pro567LeufsTer46,ENST00000228682,NM_005269.3;GLI1,frameshift_variant,p.Pro526LeufsTer46,ENST00000546141,NM_001167609.1;GLI1,frameshift_variant,p.Pro439LeufsTer46,ENST00000543426,NM_001160045.1;GLI1,frameshift_variant,p.Pro526LeufsTer46,ENST00000528467,;ARHGAP9,downstream_gene_variant,,ENST00000393791,NM_032496.4;ARHGAP9,downstream_gene_variant,,ENST00000393797,NM_001319850.2;ARHGAP9,downstream_gene_variant,,ENST00000424809,NM_001080157.2;ARHGAP9,downstream_gene_variant,,ENST00000430041,NM_001367424.1,NM_001367426.1,NM_001367425.1,NM_001367423.1,NM_001367422.1,NM_001080156.3,NM_001319852.2,NM_001319851.2;GLI1,downstream_gene_variant,,ENST00000532291,;ARHGAP9,downstream_gene_variant,,ENST00000550130,;ARHGAP9,downstream_gene_variant,,ENST00000550288,;ARHGAP9,downstream_gene_variant,,ENST00000550399,;GLI1,downstream_gene_variant,,ENST00000527742,;ARHGAP9,downstream_gene_variant,,ENST00000546200,;ARHGAP9,downstream_gene_variant,,ENST00000546704,;ARHGAP9,downstream_gene_variant,,ENST00000550440,;ARHGAP9,downstream_gene_variant,,ENST00000552953,;,regulatory_region_variant,,ENSR00000968959,; - ENSG00000111087 ENST00000228682 Transcript frameshift_variant 2139/3972 1695/3321 565/1106 F/X ttC/tt 1 NA 1 GLI1 HGNC HGNC:4317 protein_coding YES CCDS8940.1 ENSP00000228682 P08151.220 UPI000012B607 NM_005269.3 12/12 PANTHER:PTHR45718,PANTHER:PTHR45718:SF2,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 5 NA 1 . TTCC . 3917.6 NA NA NA NA NA NA NA NA NA 57470434 DDIT3 1649 . GRCh38 chr12 57516978 57516978 + Missense_Mutation SNP C C T rs1565654145 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.410G>A p.Arg137Gln p.R137Q ENST00000551116 4/4 NA NA NA NA NA NA DDIT3,missense_variant,p.Arg137Gln,ENST00000551116,NM_001195055.1,NM_001195054.1,NM_001195053.1,NM_001195056.1;DDIT3,missense_variant,p.Arg137Gln,ENST00000552740,;DDIT3,missense_variant,p.Arg114Gln,ENST00000623876,;DDIT3,missense_variant,p.Arg114Gln,ENST00000346473,NM_001195057.1,NM_004083.5;DDIT3,missense_variant,p.Arg114Gln,ENST00000547303,;DDIT3,missense_variant,p.Arg137Gln,ENST00000547526,;MARS1,downstream_gene_variant,,ENST00000262027,NM_004990.4;MBD6,upstream_gene_variant,,ENST00000546805,;MARS1,downstream_gene_variant,,ENST00000547665,;MBD6,upstream_gene_variant,,ENST00000548887,;MARS1,downstream_gene_variant,,ENST00000548944,;MBD6,upstream_gene_variant,,ENST00000551351,;MARS1,downstream_gene_variant,,ENST00000552914,;MARS1,downstream_gene_variant,,ENST00000628866,;AC022506.1,downstream_gene_variant,,ENST00000642841,;MIR616,downstream_gene_variant,,ENST00000385293,;MIR6758,downstream_gene_variant,,ENST00000620653,;MARS1,downstream_gene_variant,,ENST00000447721,;MBD6,upstream_gene_variant,,ENST00000549231,;MARS1,intron_variant,,ENST00000537638,;MARS1,downstream_gene_variant,,ENST00000545888,;MARS1,downstream_gene_variant,,ENST00000546971,;MARS1,downstream_gene_variant,,ENST00000548202,;MARS1,downstream_gene_variant,,ENST00000548630,;MARS1,downstream_gene_variant,,ENST00000549048,;MARS1,downstream_gene_variant,,ENST00000551172,;MARS1,downstream_gene_variant,,ENST00000551805,;MARS1,downstream_gene_variant,,ENST00000552499,; T ENSG00000175197 ENST00000551116 Transcript missense_variant 678/1067 410/579 137/192 R/Q cGg/cAg rs1565654145,COSV100007237,COSV56252157 1 NA -1 DDIT3 HGNC HGNC:2726 protein_coding YES CCDS55838.1 ENSP00000448665 P35638.199 UPI00001FC5F9 NM_001195055.1,NM_001195054.1,NM_001195053.1,NM_001195056.1 tolerated(0.45) benign(0.018) 4/4 MobiDB_lite:mobidb-lite,PROSITE_profiles:PS50217,PANTHER:PTHR16833,PIRSF:PIRSF016571,SMART:SM00338 NA NA NA NA NA NA NA NA NA 0,1,1 NA NA NA NA MODERATE 1 SNV 1 NA 0,1,1 NA 1 . CCG . 2983.6 7.954e-06 NA 2.891e-05 9.921e-05 NA NA NA NA NA 57516978 MBD6 114785 . GRCh38 chr12 57527219 57527219 + Frame_Shift_Del DEL C C - rs762648935 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2080del p.Gln694SerfsTer5 p.Q694Sfs*5 ENST00000355673 7/13 NA NA NA NA NA NA MBD6,frameshift_variant,p.Gln694SerfsTer5,ENST00000355673,NM_052897.4;DCTN2,downstream_gene_variant,,ENST00000434715,NM_006400.4;DCTN2,downstream_gene_variant,,ENST00000543672,NM_001261412.1,NM_001348066.1,NM_001348065.1;MBD6,downstream_gene_variant,,ENST00000546632,;DCTN2,downstream_gene_variant,,ENST00000546758,;MBD6,downstream_gene_variant,,ENST00000546805,;DCTN2,downstream_gene_variant,,ENST00000548249,NM_001261413.2;MBD6,downstream_gene_variant,,ENST00000548887,;MBD6,downstream_gene_variant,,ENST00000549623,;MBD6,downstream_gene_variant,,ENST00000551351,;MBD6,upstream_gene_variant,,ENST00000552163,;MBD6,downstream_gene_variant,,ENST00000552255,;MBD6,downstream_gene_variant,,ENST00000552659,;DCTN2,downstream_gene_variant,,ENST00000678322,;DCTN2,downstream_gene_variant,,ENST00000678505,;DCTN2,downstream_gene_variant,,ENST00000678653,NM_001348068.1,NM_001348067.1;MBD6,downstream_gene_variant,,ENST00000549231,;MBD6,frameshift_variant,p.Gln195SerfsTer5,ENST00000547545,;MBD6,upstream_gene_variant,,ENST00000547844,;MBD6,upstream_gene_variant,,ENST00000548550,;MBD6,downstream_gene_variant,,ENST00000549042,;DCTN2,downstream_gene_variant,,ENST00000549394,;DCTN2,downstream_gene_variant,,ENST00000550201,;DCTN2,downstream_gene_variant,,ENST00000550750,;DCTN2,downstream_gene_variant,,ENST00000550988,;DCTN2,downstream_gene_variant,,ENST00000551142,;DCTN2,downstream_gene_variant,,ENST00000551611,;DCTN2,downstream_gene_variant,,ENST00000552390,;DCTN2,downstream_gene_variant,,ENST00000676646,;DCTN2,downstream_gene_variant,,ENST00000676956,;DCTN2,downstream_gene_variant,,ENST00000678247,;DCTN2,downstream_gene_variant,,ENST00000678521,;DCTN2,downstream_gene_variant,,ENST00000679307,; - ENSG00000166987 ENST00000355673 Transcript frameshift_variant 2350/4202 2074/3012 692/1003 P/X Ccc/cc rs762648935 1 NA 1 MBD6 HGNC HGNC:20445 protein_coding YES CCDS8944.1 ENSP00000347896 Q96DN6.137 A0A024RBA3.44 UPI000012ED13 NM_052897.4 7/13 PANTHER:PTHR16112,PANTHER:PTHR16112:SF17,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 6 NA NA . CACC . 4003.03 8.696e-05 0.0001706 0.0001055 NA 6.957e-05 NA 9.761e-05 0.0002953 NA 57527218 TBC1D30 23329 . GRCh38 chr12 64836560 64836560 + Missense_Mutation SNP T T C rs1385803809 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1154T>C p.Val385Ala p.V385A ENST00000542120 7/13 NA NA NA NA NA NA TBC1D30,missense_variant,p.Val385Ala,ENST00000542120,;TBC1D30,missense_variant,p.Val222Ala,ENST00000539867,NM_015279.2,NM_001330186.2;TBC1D30,missense_variant,p.Val108Ala,ENST00000674237,NM_001330187.1,NM_001330188.2,NM_001364838.2;TBC1D30,downstream_gene_variant,,ENST00000539120,;TBC1D30,downstream_gene_variant,,ENST00000544457,;AC078815.1,missense_variant,p.Val108Ala,ENST00000674281,;TBC1D30,3_prime_UTR_variant,,ENST00000674171,; C ENSG00000111490 ENST00000542120 Transcript missense_variant 1447/8312 1154/2775 385/924 V/A gTg/gCg rs1385803809 1 NA 1 TBC1D30 HGNC HGNC:29164 protein_coding YES ENSP00000440640 F8VZ81.67 UPI00006C12B6 tolerated(0.19) possibly_damaging(0.842) 7/13 PROSITE_profiles:PS50086,PANTHER:PTHR22957,PANTHER:PTHR22957:SF291,Pfam:PF00566,Gene3D:1.10.472.80,SMART:SM00164,Superfamily:SSF47923,Superfamily:SSF47923 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . GTG . 1778.6 7.294e-06 0.0001553 NA NA NA NA NA NA NA 64836560 CNOT2 4848 . GRCh38 chr12 70353914 70353923 + Silent DEL AAAAAAAAAA AAAAAAAAAA - rs35192504 NA HCI-EC-23 NORMAL AAAAAAAAAA AAAAAAAAAA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1622_*8del ENST00000418359 17/17 NA NA NA NA NA NA CNOT2,stop_retained_variant,,ENST00000551483,;CNOT2,stop_retained_variant,,ENST00000418359,NM_001199302.1;CNOT2,stop_retained_variant,,ENST00000550641,;CNOT2,stop_retained_variant,,ENST00000229195,NM_014515.7,NM_001199303.1;CNOT2,downstream_gene_variant,,ENST00000548159,;CNOT2,downstream_gene_variant,,ENST00000548338,;CNOT2,downstream_gene_variant,,ENST00000551043,;CNOT2,non_coding_transcript_exon_variant,,ENST00000549705,;CNOT2,3_prime_UTR_variant,,ENST00000546673,;CNOT2,3_prime_UTR_variant,,ENST00000549709,;CNOT2,non_coding_transcript_exon_variant,,ENST00000550705,;CNOT2,downstream_gene_variant,,ENST00000551434,; - ENSG00000111596 ENST00000418359 Transcript stop_retained_variant,3_prime_UTR_variant 2073-2082/3152 1622-?/1623 541-?/540 rs35192504 1 NA 1 CNOT2 HGNC HGNC:7878 protein_coding YES CCDS31857.1 ENSP00000412091 Q9NZN8.172 A0A024RBD8.51 UPI0000052E12 NM_001199302.1 17/17 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 sequence_alteration 1 NA NA 1 . CTAAAAAAAAAAA . 1299.1 NA NA NA NA NA NA NA NA NA 70353913 KRR1 11103 . GRCh38 chr12 75503930 75503930 + Missense_Mutation SNP A A G novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.805T>C p.Phe269Leu p.F269L ENST00000229214 7/10 NA NA NA NA NA NA KRR1,missense_variant,p.Phe269Leu,ENST00000229214,NM_007043.7;KRR1,intron_variant,,ENST00000438169,;GLIPR1,downstream_gene_variant,,ENST00000266659,NM_006851.3;KRR1,non_coding_transcript_exon_variant,,ENST00000551070,;GLIPR1,downstream_gene_variant,,ENST00000536703,;KRR1,downstream_gene_variant,,ENST00000550023,;KRR1,downstream_gene_variant,,ENST00000550898,; G ENSG00000111615 ENST00000229214 Transcript missense_variant 817/10104 805/1146 269/381 F/L Ttc/Ctc 1 NA -1 KRR1 HGNC HGNC:5176 protein_coding YES CCDS9012.1 ENSP00000229214 Q13601.167 UPI00001403EE NM_007043.7 deleterious(0.03) probably_damaging(0.998) 7/10 MobiDB_lite:mobidb-lite,PANTHER:PTHR12581,PIRSF:PIRSF006515 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . AAT . 647.6 NA NA NA NA NA NA NA NA NA 75503930 ZDHHC17 23390 . GRCh38 chr12 76809085 76809085 + Silent SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.363G>A p.Gly121= p.G121= ENST00000426126 4/17 NA NA NA NA NA NA ZDHHC17,synonymous_variant,p.Gly121=,ENST00000426126,NM_015336.3,NM_001359626.1;ZDHHC17,synonymous_variant,p.Gly98=,ENST00000549682,;ZDHHC17,intron_variant,,ENST00000550876,;ZDHHC17,synonymous_variant,p.Gly119=,ENST00000552453,;ZDHHC17,synonymous_variant,p.Gly62=,ENST00000549944,;ZDHHC17,3_prime_UTR_variant,,ENST00000546778,;ZDHHC17,3_prime_UTR_variant,,ENST00000550163,;ZDHHC17,3_prime_UTR_variant,,ENST00000547620,;ZDHHC17,3_prime_UTR_variant,,ENST00000551407,;ZDHHC17,intron_variant,,ENST00000547604,; A ENSG00000186908 ENST00000426126 Transcript synonymous_variant 1012/5259 363/1899 121/632 G ggG/ggA 1 NA 1 ZDHHC17 HGNC HGNC:18412 protein_coding YES CCDS44946.1 ENSP00000403397 Q8IUH5.164 UPI0000051F55 NM_015336.3,NM_001359626.1 4/17 PDB-ENSP_mappings:3eu9.A,PDB-ENSP_mappings:3eu9.B,PDB-ENSP_mappings:3eu9.C,PDB-ENSP_mappings:5w7i.A,PDB-ENSP_mappings:5w7i.C,PDB-ENSP_mappings:5w7j.A,PDB-ENSP_mappings:5w7j.C,PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,PANTHER:PTHR24161,PANTHER:PTHR24161:SF18,Pfam:PF12796,Gene3D:1.25.40.20,Superfamily:SSF48403 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . GGG . 33.6 NA NA NA NA NA NA NA NA NA 76809085 PAWR 5074 . GRCh38 chr12 79690111 79690111 + Frame_Shift_Del DEL C C - novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.134del p.Gly45AlafsTer45 p.G45Afs*45 ENST00000328827 2/7 NA NA NA NA NA NA PAWR,frameshift_variant,p.Gly45AlafsTer45,ENST00000328827,NM_001354732.1,NM_002583.4;PAWR,frameshift_variant,p.Gly45AlafsTer?,ENST00000548426,;PAWR,frameshift_variant,p.Gly45AlafsTer?,ENST00000552637,;PAWR,upstream_gene_variant,,ENST00000551712,NM_001354733.1;AC073569.2,upstream_gene_variant,,ENST00000551995,;PAWR,upstream_gene_variant,,ENST00000547016,;PAWR,upstream_gene_variant,,ENST00000547571,;PAWR,upstream_gene_variant,,ENST00000550006,;,regulatory_region_variant,,ENSR00000054464,; - ENSG00000177425 ENST00000328827 Transcript frameshift_variant 374/8991 134/1023 45/340 G/X gGc/gc 1 NA -1 PAWR HGNC HGNC:8614 protein_coding YES CCDS31863.1 ENSP00000328088 Q96IZ0.155 UPI0000070738 NM_001354732.1,NM_002583.4 2/7 Low_complexity_(Seg):seg,MobiDB_lite:mobidb-lite,PANTHER:PTHR15093 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 NA NA NA . TGCC . 1220.6 NA NA NA NA NA NA NA NA NA 79690110 OTOGL 283310 . GRCh38 chr12 80339239 80339239 + Silent SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.5025G>A p.Leu1675= p.L1675= ENST00000547103 43/59 NA NA NA NA NA NA OTOGL,synonymous_variant,p.Leu1675=,ENST00000547103,;OTOGL,synonymous_variant,p.Leu1630=,ENST00000646859,NM_001368062.1;OTOGL,synonymous_variant,p.Leu1666=,ENST00000458043,NM_001378610.1,NM_001378609.1,NM_173591.4;OTOGL,synonymous_variant,p.Leu109=,ENST00000298820,;RN7SKP261,downstream_gene_variant,,ENST00000410948,; A ENSG00000165899 ENST00000547103 Transcript synonymous_variant 5113/9981 5025/7062 1675/2353 L ttG/ttA 1 NA 1 OTOGL HGNC HGNC:26901 protein_coding YES ENSP00000447211 Q3ZCN5.108 UPI000D190733 43/59 PROSITE_profiles:PS51233,PANTHER:PTHR11339:SF225,PANTHER:PTHR11339,Pfam:PF00094,SMART:SM00216 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA 1 . TGT . 869.6 NA NA NA NA NA NA NA NA NA 80339239 CCDC59 29080 . GRCh38 chr12 82353284 82353284 + Missense_Mutation SNP T T C rs148070624 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.593A>G p.Glu198Gly p.E198G ENST00000256151 4/4 NA NA NA NA NA NA CCDC59,missense_variant,p.Glu198Gly,ENST00000256151,NM_014167.5;CCDC59,intron_variant,,ENST00000552377,;CCDC59,non_coding_transcript_exon_variant,,ENST00000548126,;CCDC59,downstream_gene_variant,,ENST00000552412,;CCDC59,non_coding_transcript_exon_variant,,ENST00000550589,;CCDC59,downstream_gene_variant,,ENST00000547758,;CCDC59,downstream_gene_variant,,ENST00000552606,; C ENSG00000133773 ENST00000256151 Transcript missense_variant 604/1585 593/726 198/241 E/G gAa/gGa rs148070624 1 NA -1 CCDC59 HGNC HGNC:25005 protein_coding YES CCDS9023.1 ENSP00000256151 Q9P031.132 UPI0000034DFE NM_014167.5 deleterious(0) probably_damaging(0.999) 4/4 Low_complexity_(Seg):seg,MobiDB_lite:mobidb-lite,Coiled-coils_(Ncoils):Coil,PANTHER:PTHR15657,Pfam:PF08524,Prints:PR01854 NA NA NA NA NA NA NA 0.000227 0.0001163 NA NA NA NA MODERATE 1 SNV 1 NA NA NA . TTC . 360.6 0.0001151 6.203e-05 3.06e-05 NA NA NA 0.0002335 NA NA 82353284 SLC6A15 55117 . GRCh38 chr12 84886011 84886011 + Frame_Shift_Del DEL A A - novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.347del p.Phe116SerfsTer21 p.F116Sfs*21 ENST00000266682 3/12 NA NA NA NA NA NA SLC6A15,frameshift_variant,p.Phe116SerfsTer21,ENST00000266682,NM_182767.6;SLC6A15,frameshift_variant,p.Phe116SerfsTer21,ENST00000450363,NM_018057.6;SLC6A15,frameshift_variant,p.Phe9SerfsTer21,ENST00000552192,NM_001146335.3;SLC6A15,intron_variant,,ENST00000551612,;SLC6A15,intron_variant,,ENST00000547240,;SLC6A15,intron_variant,,ENST00000551388,; - ENSG00000072041 ENST00000266682 Transcript frameshift_variant 812/4799 347/2193 116/730 F/X tTc/tc 1 NA -1 SLC6A15 HGNC HGNC:13621 protein_coding YES CCDS9026.1 ENSP00000266682 Q9H2J7.156 UPI0000038BF2 NM_182767.6 3/12 Transmembrane_helices:TMhelix,PROSITE_profiles:PS50267,CDD:cd11522,PANTHER:PTHR11616:SF101,PANTHER:PTHR11616,Pfam:PF00209,Superfamily:SSF161070,Prints:PR00176 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 NA NA NA . AGAA . 1286.6 NA NA NA NA NA NA NA NA NA 84886010 ELK3 2004 . GRCh38 chr12 96247250 96247251 + Frame_Shift_Ins INS - - C rs769175197 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.525dup p.Val176ArgfsTer14 p.V176Rfs*14 ENST00000228741 3/5 NA NA NA NA NA NA ELK3,frameshift_variant,p.Val176ArgfsTer14,ENST00000228741,NM_005230.4;ELK3,intron_variant,,ENST00000552142,;ELK3,downstream_gene_variant,,ENST00000547860,;ELK3,frameshift_variant,p.Val44ArgfsTer127,ENST00000549985,; C ENSG00000111145 ENST00000228741 Transcript frameshift_variant 851-852/4201 518-519/1224 173/407 S/SX agc/agCc rs769175197 1 NA 1 ELK3 HGNC HGNC:3325 protein_coding YES CCDS9060.1 ENSP00000228741 P41970.177 A0A024RBE2.51 UPI0000000E09 NM_005230.4 3/5 Low_complexity_(Seg):seg,PANTHER:PTHR11849:SF172,PANTHER:PTHR11849 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 insertion 1 7 NA NA . AGC . 3718.64 1.595e-05 NA NA NA NA NA 3.532e-05 NA NA 96247250 UTP20 27340 . GRCh38 chr12 101340606 101340606 + Missense_Mutation SNP C C T rs147946096 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4097C>T p.Ala1366Val p.A1366V ENST00000261637 32/62 NA NA NA NA NA NA UTP20,missense_variant,p.Ala1366Val,ENST00000261637,NM_014503.3; T ENSG00000120800 ENST00000261637 Transcript missense_variant 4275/9031 4097/8358 1366/2785 A/V gCt/gTt rs147946096 1 NA 1 UTP20 HGNC HGNC:17897 protein_coding YES CCDS9081.1 ENSP00000261637 O75691.161 UPI00001FB38B NM_014503.3 tolerated(0.31) benign(0.075) 32/62 Pfam:PF07539,PANTHER:PTHR17695,Superfamily:SSF48371 NA NA NA NA NA NA NA NA 0.0001163 NA NA NA NA MODERATE 1 SNV 1 NA NA NA . GCT . 1793.6 2e-05 NA NA NA NA NA 4.408e-05 NA NA 101340606 ASCL1 429 . GRCh38 chr12 102958393 102958394 + In_Frame_Ins INS - - GCAGCA rs3832799 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.181_186dup p.Gln61_Gln62dup p.Q61_Q62dup ENST00000266744 1/2 NA NA NA NA NA NA ASCL1,inframe_insertion,p.Gln61_Gln62dup,ENST00000266744,NM_004316.4;PAH,upstream_gene_variant,,ENST00000551337,;AC026108.1,upstream_gene_variant,,ENST00000635444,;PAH,non_coding_transcript_exon_variant,,ENST00000547319,;PAH,upstream_gene_variant,,ENST00000635500,;,regulatory_region_variant,,ENSR00000467893,; GCAGCA ENSG00000139352 ENST00000266744 Transcript inframe_insertion 720-721/2481 149-150/711 50/236 A/AQQ gcg/gcGCAGCAg rs3832799 1 NA 1 ASCL1 HGNC HGNC:738 protein_coding YES CCDS31886.1 ENSP00000266744 P50553.184 UPI0000047FC7 NM_004316.4 1/2 Low_complexity_(Seg):seg,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite,Coiled-coils_(Ncoils):Coil,PANTHER:PTHR13935,PANTHER:PTHR13935:SF66 NA NA NA NA NA NA NA NA NA 25741868,24033266,14566559,16021468,20097173 NA NA NA NA MODERATE 1 insertion 1 37 1 NA 1 . GCG . 1440.64 NA NA NA NA NA NA NA NA NA 102958393 TDG 6996 . GRCh38 chr12 103984920 103984921 + Frame_Shift_Ins INS - - AGGATGCAAAGAAGATGGCTGTTAA novel NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.964_964+1insAGGATGCAAAGAAGATGGCTGTTAA p.Glu331GlyfsTer8 p.E331Gfs*8 ENST00000392872 NA NA NA NA NA NA TDG,frameshift_variant,p.Glu331GlyfsTer8,ENST00000392872,NM_003211.6;TDG,frameshift_variant,p.Glu327GlyfsTer8,ENST00000266775,;TDG,frameshift_variant,p.Glu188GlyfsTer8,ENST00000544861,NM_001363612.1;GLT8D2,downstream_gene_variant,,ENST00000360814,NM_031302.4;TDG,downstream_gene_variant,,ENST00000436021,;TDG,downstream_gene_variant,,ENST00000537100,;GLT8D2,downstream_gene_variant,,ENST00000546436,;GLT8D2,downstream_gene_variant,,ENST00000548660,NM_001316967.1;TDG,upstream_gene_variant,,ENST00000536395,;TDG,splice_region_variant,,ENST00000542926,;TDG,splice_region_variant,,ENST00000540956,;TDG,downstream_gene_variant,,ENST00000544060,;TDG,downstream_gene_variant,,ENST00000545698,; AGGATGCAAAGAAGATGGCTGTTAA ENSG00000139372 ENST00000392872 Transcript frameshift_variant,splice_region_variant 1130-1131/3183 964-965/1233 322/410 E/EDAKKMAVKX gag/gAGGATGCAAAGAAGATGGCTGTTAAag 1 NA 1 TDG HGNC HGNC:11700 protein_coding YES CCDS9095.1 ENSP00000376611 Q13569.179 UPI00000740E5 NM_003211.6 PDB-ENSP_mappings:1wyw.A,PDB-ENSP_mappings:2d07.A,PANTHER:PTHR12159,PANTHER:PTHR12159:SF10,TIGRFAM:TIGR00584 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 insertion 1 NA NA NA . AGG . 174.64 NA NA NA NA NA NA NA NA NA 103984920 GLT8D2 83468 . GRCh38 chr12 104003247 104003247 + Missense_Mutation SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.172G>A p.Ala58Thr p.A58T ENST00000360814 5/11 NA NA NA NA NA NA GLT8D2,missense_variant,p.Ala58Thr,ENST00000360814,NM_031302.4;GLT8D2,missense_variant,p.Ala58Thr,ENST00000548660,NM_001316967.1;GLT8D2,missense_variant,p.Ala58Thr,ENST00000546436,;GLT8D2,5_prime_UTR_variant,,ENST00000546851,;GLT8D2,non_coding_transcript_exon_variant,,ENST00000550816,; T ENSG00000120820 ENST00000360814 Transcript missense_variant 578/1880 172/1050 58/349 A/T Gca/Aca 1 NA -1 GLT8D2 HGNC HGNC:24890 protein_coding YES CCDS9096.1 ENSP00000354053 Q9H1C3.126 UPI000004B633 NM_031302.4 tolerated(0.25) benign(0.433) 5/11 Low_complexity_(Seg):seg,PANTHER:PTHR13778:SF2,PANTHER:PTHR13778,Gene3D:3.90.550.10,Pfam:PF01501,Superfamily:SSF53448 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . GCA . 514.6 NA NA NA NA NA NA NA NA NA 104003247 POLR3B 55703 . GRCh38 chr12 106378340 106378340 + Silent SNP C C T rs772944396 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.570C>T p.Ile190= p.I190= ENST00000228347 8/28 NA NA NA NA NA NA POLR3B,synonymous_variant,p.Ile190=,ENST00000228347,NM_018082.6;POLR3B,synonymous_variant,p.Ile132=,ENST00000539066,NM_001160708.1;POLR3B,upstream_gene_variant,,ENST00000549569,; T ENSG00000013503 ENST00000228347 Transcript synonymous_variant 702/4183 570/3402 190/1133 I atC/atT rs772944396,COSV57277614 1 NA 1 POLR3B HGNC HGNC:30348 protein_coding YES CCDS9105.1 ENSP00000228347 Q9NW08.176 UPI000000DB67 NM_018082.6 8/28 CDD:cd00653,PANTHER:PTHR20856,PANTHER:PTHR20856:SF8,Gene3D:3.90.1110.10,Pfam:PF04563,Pfam:PF04561,Superfamily:SSF64484 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA LOW 1 SNV 1 NA 0,1 NA 1 . TCG . 2598.6 3.58e-05 NA 5.783e-05 NA NA NA NA NA 0.0002287 106378340 POLR3B 55703 . GRCh38 chr12 106496815 106496815 + Missense_Mutation SNP G G A rs1054098344 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2881G>A p.Gly961Ser p.G961S ENST00000228347 25/28 NA NA NA NA NA NA POLR3B,missense_variant,p.Gly961Ser,ENST00000228347,NM_018082.6;POLR3B,missense_variant,p.Gly903Ser,ENST00000539066,NM_001160708.1;AC079385.1,intron_variant,,ENST00000549203,;AC079385.1,intron_variant,,ENST00000551505,; A ENSG00000013503 ENST00000228347 Transcript missense_variant 3013/4183 2881/3402 961/1133 G/S Ggc/Agc rs1054098344,COSV57278665 1 NA 1 POLR3B HGNC HGNC:30348 protein_coding YES CCDS9105.1 ENSP00000228347 Q9NW08.176 UPI000000DB67 NM_018082.6 tolerated(0.05) probably_damaging(0.939) 25/28 CDD:cd00653,PANTHER:PTHR20856,PANTHER:PTHR20856:SF8,Pfam:PF00562,Gene3D:2.40.270.10,Superfamily:SSF64484 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 1 NA 0,1 NA 1 . CGG . 3960.6 7.954e-06 NA NA NA NA 4.623e-05 8.792e-06 NA NA 106496815 SVOP 55530 . GRCh38 chr12 108983605 108983605 + Silent SNP A A G rs912853021 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.192T>C p.Thr64= p.T64= ENST00000610966 2/16 NA NA NA NA NA NA SVOP,synonymous_variant,p.Thr64=,ENST00000610966,NM_018711.5;SVOP,synonymous_variant,p.Thr64=,ENST00000546618,;SVOP,synonymous_variant,p.Thr64=,ENST00000550436,;SVOP,non_coding_transcript_exon_variant,,ENST00000548229,; G ENSG00000166111 ENST00000610966 Transcript synonymous_variant 392/6641 192/1647 64/548 T acT/acC rs912853021 1 NA -1 SVOP HGNC HGNC:25417 protein_coding YES CCDS73520.1 ENSP00000479104 Q8N4V2.138 UPI000006E50F NM_018711.5 2/16 TIGRFAM:TIGR00898 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . CAG . 1257.6 NA NA NA NA NA NA NA NA NA 108983605 ACACB 32 . GRCh38 chr12 109246433 109246433 + Silent SNP A A G novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.5556A>G p.Pro1852= p.P1852= ENST00000338432 39/53 NA NA NA NA NA NA ACACB,synonymous_variant,p.Pro1852=,ENST00000338432,NM_001093.4;ACACB,synonymous_variant,p.Pro1852=,ENST00000377848,;ACACB,synonymous_variant,p.Pro518=,ENST00000377854,;ACACB,synonymous_variant,p.Pro519=,ENST00000538526,;ACACB,synonymous_variant,p.Pro97=,ENST00000536440,;ACACB,upstream_gene_variant,,ENST00000396233,;ACACB,downstream_gene_variant,,ENST00000534852,;ACACB,downstream_gene_variant,,ENST00000537347,; G ENSG00000076555 ENST00000338432 Transcript synonymous_variant 5675/9360 5556/7377 1852/2458 P ccA/ccG 1 NA 1 ACACB HGNC HGNC:85 protein_coding YES CCDS31898.1 ENSP00000341044 O00763.197 UPI0000DBEEFB NM_001093.4 39/53 PDB-ENSP_mappings:3ff6.A,PDB-ENSP_mappings:3ff6.B,PDB-ENSP_mappings:3ff6.C,PDB-ENSP_mappings:3ff6.D,PDB-ENSP_mappings:3tdc.A,PROSITE_profiles:PS50980,PANTHER:PTHR45728:SF1,PANTHER:PTHR45728,Gene3D:2.40.460.10,Gene3D:3.90.226.10,Pfam:PF01039,Superfamily:SSF52096 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . CAG . 4786.6 NA NA NA NA NA NA NA NA NA 109246433 PPP1CC 5501 . GRCh38 chr12 110722648 110722648 + Silent SNP G G T rs866672821 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.571C>A p.Arg191= p.R191= ENST00000340766 5/8 NA NA NA NA NA NA PPP1CC,synonymous_variant,p.Arg191=,ENST00000335007,NM_002710.4;PPP1CC,synonymous_variant,p.Arg200=,ENST00000546933,;PPP1CC,synonymous_variant,p.Arg191=,ENST00000550991,;PPP1CC,synonymous_variant,p.Arg191=,ENST00000551676,;PPP1CC,synonymous_variant,p.Arg191=,ENST00000340766,NM_001244974.2;PPP1CC,synonymous_variant,p.Arg35=,ENST00000551582,;PPP1CC,missense_variant,p.Ala52Glu,ENST00000550261,;PPP1CC,non_coding_transcript_exon_variant,,ENST00000553024,;PPP1CC,upstream_gene_variant,,ENST00000546904,; T ENSG00000186298 ENST00000340766 Transcript synonymous_variant 803/1472 571/1014 191/337 R Cga/Aga rs866672821,COSV58582427 1 NA -1 PPP1CC HGNC HGNC:9283 protein_coding YES CCDS58279.1 ENSP00000341779 P36873.230 UPI000002B16F NM_001244974.2 5/8 Gene3D:3.60.21.10,Pfam:PF00149,Prints:PR00114,PANTHER:PTHR11668,PANTHER:PTHR11668:SF204,SMART:SM00156,Superfamily:SSF56300,CDD:cd07414 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA LOW 1 SNV 2 NA 0,1 NA NA . CGC . 508.6 NA NA NA NA NA NA NA NA NA 110722648 ATXN2 6311 . GRCh38 chr12 111598950 111598952 + In_Frame_Del DEL GCT GCT - rs10560189 NA HCI-EC-23 NORMAL GCT GCT NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.563_565del p.Gln188del p.Q188del ENST00000550104 1/25 NA NA NA NA NA NA ATXN2,inframe_deletion,p.Gln28del,ENST00000644883,;ATXN2,inframe_deletion,p.Gln188del,ENST00000550104,;ATXN2,inframe_deletion,p.Gln28del,ENST00000643669,;ATXN2,inframe_deletion,p.Gln28del,ENST00000608853,;ATXN2,inframe_deletion,p.Gln28del,ENST00000673436,NM_001372574.1;ATXN2,inframe_deletion,p.Gln28del,ENST00000672613,NM_002973.4;ATXN2,inframe_deletion,p.Gln28del,ENST00000389153,;ATXN2,inframe_deletion,p.Gln28del,ENST00000673557,;ATXN2,inframe_deletion,p.Gln28del,ENST00000673449,;ATXN2,inframe_deletion,p.Gln28del,ENST00000647305,;ATXN2,inframe_deletion,p.Gln28del,ENST00000673283,;ATXN2,5_prime_UTR_variant,,ENST00000616825,;ATXN2,intron_variant,,ENST00000535949,NM_001310123.1;ATXN2,intron_variant,,ENST00000542287,NM_001310121.1;ATXN2-AS,upstream_gene_variant,,ENST00000547021,;ATXN2,non_coding_transcript_exon_variant,,ENST00000549455,;ATXN2,upstream_gene_variant,,ENST00000548492,;ATXN2,upstream_gene_variant,,ENST00000672335,;ATXN2,inframe_deletion,p.Gln28del,ENST00000642389,;ATXN2,inframe_deletion,p.Gln28del,ENST00000483311,;ATXN2,upstream_gene_variant,,ENST00000392645,;ATXN2,upstream_gene_variant,,ENST00000671792,;ATXN2,upstream_gene_variant,,ENST00000672105,;,regulatory_region_variant,,ENSR00000057455,; - ENSG00000204842 ENST00000550104 Transcript inframe_deletion 725-727/4648 563-565/3942 188-189/1313 QP/P cAGCcg/ccg rs10560189 1 NA -1 ATXN2 HGNC HGNC:10555 protein_coding YES CCDS31902.1 ENSP00000446576 Q99700.178 UPI0000DBEEFC 1/25 Coiled-coils_(Ncoils):Coil,Superfamily:SSF81995,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA 0.8729 0.9438 NA 1 0.9682 0.9939 0.8684 0.9179 NA NA NA NA MODERATE 1 deletion 1 NA 1 NA 1 . CGGCTG . 1352.03 NA NA NA NA NA NA NA NA NA 111598949 OAS2 4939 . GRCh38 chr12 113005025 113005025 + Frame_Shift_Del DEL A A - rs781171419 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1277del p.Asn426ThrfsTer14 p.N426Tfs*14 ENST00000620097 7/12 NA NA NA NA NA NA OAS2,frameshift_variant,p.Asn426ThrfsTer14,ENST00000392583,NM_002535.3;OAS2,frameshift_variant,p.Asn426ThrfsTer14,ENST00000342315,NM_016817.3;OAS2,frameshift_variant,p.Asn426ThrfsTer14,ENST00000620097,;OAS2,downstream_gene_variant,,ENST00000552756,;AC004551.1,intron_variant,,ENST00000552784,;OAS2,non_coding_transcript_exon_variant,,ENST00000548941,; - ENSG00000111335 ENST00000620097 Transcript frameshift_variant 1290/2908 1271/2181 424/726 Q/X cAa/ca rs781171419 1 NA 1 OAS2 HGNC HGNC:8087 protein_coding YES ENSP00000483679 A0A087X0V5.30 UPI0004E4CC87 7/12 PROSITE_profiles:PS50152,CDD:cd05400,PANTHER:PTHR11258,PANTHER:PTHR11258:SF3,Pfam:PF01909,Gene3D:3.30.460.10,Superfamily:SSF81301 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH NA deletion 5 6 NA NA . CCAA . 1928.6 3.982e-06 NA NA NA NA NA NA NA 3.268e-05 113005024 FBXW8 26259 . GRCh38 chr12 116964731 116964731 + Missense_Mutation SNP C C T rs202064358 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.712C>T p.Arg238Cys p.R238C ENST00000652555 5/11 NA NA NA NA NA NA FBXW8,missense_variant,p.Arg238Cys,ENST00000652555,NM_153348.3;FBXW8,missense_variant,p.Arg172Cys,ENST00000455858,NM_012174.1;FBXW8,missense_variant,p.Arg134Cys,ENST00000309909,;,regulatory_region_variant,,ENSR00000973976,; T ENSG00000174989 ENST00000652555 Transcript missense_variant 800/4861 712/1797 238/598 R/C Cgc/Tgc rs202064358,COSV59296371 1 NA 1 FBXW8 HGNC HGNC:13597 protein_coding YES CCDS9182.1 ENSP00000498999 Q8N3Y1.166 UPI000019AB72 NM_153348.3 deleterious(0.01) possibly_damaging(0.899) 5/11 PROSITE_profiles:PS50294,PANTHER:PTHR44019,PANTHER:PTHR44019:SF11,Gene3D:2.130.10.10,Superfamily:SSF50998 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV NA NA 0,1 NA NA . CCG . 3607.6 4.375e-05 NA NA NA NA 0.0001386 7.036e-05 NA NA 116964731 NOS1 4842 . GRCh38 chr12 117225039 117225039 + Missense_Mutation SNP C C T rs1228191948 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3905G>A p.Arg1302Gln p.R1302Q ENST00000618760 26/30 NA NA NA NA NA NA NOS1,missense_variant,p.Arg1302Gln,ENST00000618760,NM_001204218.1;NOS1,missense_variant,p.Arg1268Gln,ENST00000317775,NM_000620.5,NM_001204214.1,NM_001204213.1;NOS1,missense_variant,p.Arg1302Gln,ENST00000338101,;NOS1,missense_variant,p.Arg1267Gln,ENST00000344089,; T ENSG00000089250 ENST00000618760 Transcript missense_variant 4616/12283 3905/4407 1302/1468 R/Q cGg/cAg rs1228191948,COSV100501289 1 NA -1 NOS1 HGNC HGNC:7872 protein_coding YES CCDS55890.1 ENSP00000477999 P29475.222 UPI00001FBC10 NM_001204218.1 deleterious(0.03) probably_damaging(0.995) 26/30 CDD:cd06202,Pfam:PF00175,PIRSF:PIRSF000333,Gene3D:3.40.50.80,Superfamily:SSF52343,PANTHER:PTHR19384:SF63,PANTHER:PTHR19384,Prints:PR00371 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 5 NA 0,1 NA 1 . CCG . 2751.6 8.015e-06 6.457e-05 NA NA NA NA NA NA 3.268e-05 117225039 RNF10 9921 . GRCh38 chr12 120565448 120565448 + Missense_Mutation SNP C C T rs1334031320 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1819C>T p.Arg607Cys p.R607C ENST00000413266 12/17 NA NA NA NA NA NA RNF10,missense_variant,p.Arg602Cys,ENST00000325954,NM_014868.5;RNF10,missense_variant,p.Arg607Cys,ENST00000413266,NM_001330474.2;RNF10,missense_variant,p.Arg50Cys,ENST00000546262,;RNF10,missense_variant,p.Arg146Cys,ENST00000540046,;RNF10,downstream_gene_variant,,ENST00000537740,;RNF10,upstream_gene_variant,,ENST00000538254,;RNF10,downstream_gene_variant,,ENST00000542207,;RNF10,downstream_gene_variant,,ENST00000542438,;RNF10,non_coding_transcript_exon_variant,,ENST00000535470,;RNF10,upstream_gene_variant,,ENST00000542701,;RNF10,downstream_gene_variant,,ENST00000543675,;RNF10,upstream_gene_variant,,ENST00000543757,;RNF10,missense_variant,p.Arg138Cys,ENST00000545419,;RNF10,non_coding_transcript_exon_variant,,ENST00000366112,;RNF10,non_coding_transcript_exon_variant,,ENST00000535395,;RNF10,downstream_gene_variant,,ENST00000537376,;RNF10,downstream_gene_variant,,ENST00000544124,; T ENSG00000022840 ENST00000413266 Transcript missense_variant 1819/2671 1819/2451 607/816 R/C Cgt/Tgt rs1334031320,COSV58046453 1 NA 1 RNF10 HGNC HGNC:10055 protein_coding YES CCDS81746.1 ENSP00000415682 Q8N5U6.145 UPI0000E56F09 NM_001330474.2 deleterious(0) probably_damaging(0.999) 12/17 PANTHER:PTHR12983,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 5 NA 0,1 NA NA . ACG . 992.6 NA NA NA NA NA NA NA NA NA 120565448 ACADS 35 . GRCh38 chr12 120737097 120737097 + Missense_Mutation SNP G G A rs117356004 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.322G>A p.Gly108Ser p.G108S ENST00000242592 3/10 NA NA NA NA NA NA ACADS,missense_variant,p.Gly108Ser,ENST00000242592,NM_000017.4;ACADS,missense_variant,p.Gly108Ser,ENST00000411593,NM_001302554.2;AC069234.1,downstream_gene_variant,,ENST00000542620,;ACADS,non_coding_transcript_exon_variant,,ENST00000539690,; A ENSG00000122971 ENST00000242592 Transcript missense_variant 382/1859 322/1239 108/412 G/S Ggc/Agc rs117356004,CM1211946 1 NA 1 ACADS HGNC HGNC:90 protein_coding YES CCDS9207.1 ENSP00000242592 P16219.209 E5KSD5.79 UPI000004A863 NM_000017.4 tolerated(0.41) benign(0.284) 3/10 PDB-ENSP_mappings:2vig.A,PDB-ENSP_mappings:2vig.B,PDB-ENSP_mappings:2vig.C,PDB-ENSP_mappings:2vig.D,PDB-ENSP_mappings:2vig.E,PDB-ENSP_mappings:2vig.F,PDB-ENSP_mappings:2vig.G,PDB-ENSP_mappings:2vig.H,CDD:cd01158,PANTHER:PTHR43884,PANTHER:PTHR43884:SF12,Pfam:PF02771,Gene3D:1.10.540.10,PIRSF:PIRSF016578,Superfamily:SSF56645 2e-04 NA NA NA 0.001 NA NA NA NA likely_pathogenic NA NA NA NA MODERATE 1 SNV 1 NA 1,1 NA 1 . TGG . 2250.6 1.842e-05 NA NA NA 0.0001802 NA 1.046e-05 NA NA 120737097 ANAPC5 51433 . GRCh38 chr12 121330616 121330616 + Silent SNP A A G novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1089T>C p.His363= p.H363= ENST00000261819 9/17 NA NA NA NA NA NA ANAPC5,synonymous_variant,p.His363=,ENST00000261819,NM_016237.5;ANAPC5,synonymous_variant,p.His363=,ENST00000541887,NM_001330489.2;ANAPC5,synonymous_variant,p.His264=,ENST00000441917,NM_001137559.1;ANAPC5,synonymous_variant,p.His29=,ENST00000535482,;ANAPC5,downstream_gene_variant,,ENST00000544442,;ANAPC5,non_coding_transcript_exon_variant,,ENST00000544314,;ANAPC5,non_coding_transcript_exon_variant,,ENST00000545218,;ANAPC5,non_coding_transcript_exon_variant,,ENST00000535472,;ANAPC5,intron_variant,,ENST00000538223,;ANAPC5,synonymous_variant,p.His145=,ENST00000539079,;ANAPC5,non_coding_transcript_exon_variant,,ENST00000538334,;ANAPC5,non_coding_transcript_exon_variant,,ENST00000535641,;ANAPC5,non_coding_transcript_exon_variant,,ENST00000539612,;ANAPC5,intron_variant,,ENST00000534976,;ANAPC5,upstream_gene_variant,,ENST00000535463,;ANAPC5,downstream_gene_variant,,ENST00000541652,; G ENSG00000089053 ENST00000261819 Transcript synonymous_variant 1160/2574 1089/2268 363/755 H caT/caC 1 NA -1 ANAPC5 HGNC HGNC:15713 protein_coding YES CCDS9220.1 ENSP00000261819 Q9UJX4.180 UPI000006DF80 NM_016237.5 9/17 PDB-ENSP_mappings:4ui9.O,PDB-ENSP_mappings:5a31.O,PDB-ENSP_mappings:5g04.O,PDB-ENSP_mappings:5g05.O,PDB-ENSP_mappings:5khr.O,PDB-ENSP_mappings:5khu.O,PDB-ENSP_mappings:5l9t.O,PDB-ENSP_mappings:5l9u.O,PDB-ENSP_mappings:5lcw.O,PDB-ENSP_mappings:6q6g.O,PDB-ENSP_mappings:6q6h.O,PDB-ENSP_mappings:6tlj.O,PDB-ENSP_mappings:6tm5.O,PANTHER:PTHR12830,PANTHER:PTHR12830:SF9,Superfamily:SSF48452 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . AAT . 74.6 NA NA NA NA NA NA NA NA NA 121330616 ANAPC5 51433 . GRCh38 chr12 121330624 121330624 + Silent SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1081C>T p.Leu361= p.L361= ENST00000261819 9/17 NA NA NA NA NA NA ANAPC5,synonymous_variant,p.Leu361=,ENST00000261819,NM_016237.5;ANAPC5,synonymous_variant,p.Leu361=,ENST00000541887,NM_001330489.2;ANAPC5,synonymous_variant,p.Leu262=,ENST00000441917,NM_001137559.1;ANAPC5,synonymous_variant,p.Leu27=,ENST00000535482,;ANAPC5,downstream_gene_variant,,ENST00000544442,;ANAPC5,non_coding_transcript_exon_variant,,ENST00000544314,;ANAPC5,non_coding_transcript_exon_variant,,ENST00000545218,;ANAPC5,non_coding_transcript_exon_variant,,ENST00000535472,;ANAPC5,intron_variant,,ENST00000538223,;ANAPC5,synonymous_variant,p.Leu143=,ENST00000539079,;ANAPC5,non_coding_transcript_exon_variant,,ENST00000538334,;ANAPC5,non_coding_transcript_exon_variant,,ENST00000535641,;ANAPC5,non_coding_transcript_exon_variant,,ENST00000539612,;ANAPC5,intron_variant,,ENST00000534976,;ANAPC5,upstream_gene_variant,,ENST00000535463,;ANAPC5,downstream_gene_variant,,ENST00000541652,; A ENSG00000089053 ENST00000261819 Transcript synonymous_variant 1152/2574 1081/2268 361/755 L Ctg/Ttg 1 NA -1 ANAPC5 HGNC HGNC:15713 protein_coding YES CCDS9220.1 ENSP00000261819 Q9UJX4.180 UPI000006DF80 NM_016237.5 9/17 PDB-ENSP_mappings:4ui9.O,PDB-ENSP_mappings:5a31.O,PDB-ENSP_mappings:5g04.O,PDB-ENSP_mappings:5g05.O,PDB-ENSP_mappings:5khr.O,PDB-ENSP_mappings:5khu.O,PDB-ENSP_mappings:5l9t.O,PDB-ENSP_mappings:5l9u.O,PDB-ENSP_mappings:5lcw.O,PDB-ENSP_mappings:6q6g.O,PDB-ENSP_mappings:6q6h.O,PDB-ENSP_mappings:6tlj.O,PDB-ENSP_mappings:6tm5.O,PANTHER:PTHR12830,PANTHER:PTHR12830:SF9,Superfamily:SSF48452 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . AGC . 305.6 NA NA NA NA NA NA NA NA NA 121330624 ANAPC5 51433 . GRCh38 chr12 121330639 121330639 + Missense_Mutation SNP C C G novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1066G>C p.Asp356His p.D356H ENST00000261819 9/17 NA NA NA NA NA NA ANAPC5,missense_variant,p.Asp356His,ENST00000261819,NM_016237.5;ANAPC5,missense_variant,p.Asp356His,ENST00000541887,NM_001330489.2;ANAPC5,missense_variant,p.Asp257His,ENST00000441917,NM_001137559.1;ANAPC5,missense_variant,p.Asp22His,ENST00000535482,;ANAPC5,downstream_gene_variant,,ENST00000544442,;ANAPC5,non_coding_transcript_exon_variant,,ENST00000544314,;ANAPC5,non_coding_transcript_exon_variant,,ENST00000545218,;ANAPC5,non_coding_transcript_exon_variant,,ENST00000535472,;ANAPC5,intron_variant,,ENST00000538223,;ANAPC5,missense_variant,p.Asp138His,ENST00000539079,;ANAPC5,non_coding_transcript_exon_variant,,ENST00000538334,;ANAPC5,non_coding_transcript_exon_variant,,ENST00000535641,;ANAPC5,non_coding_transcript_exon_variant,,ENST00000539612,;ANAPC5,intron_variant,,ENST00000534976,;ANAPC5,upstream_gene_variant,,ENST00000535463,;ANAPC5,downstream_gene_variant,,ENST00000541652,; G ENSG00000089053 ENST00000261819 Transcript missense_variant 1137/2574 1066/2268 356/755 D/H Gat/Cat 1 NA -1 ANAPC5 HGNC HGNC:15713 protein_coding YES CCDS9220.1 ENSP00000261819 Q9UJX4.180 UPI000006DF80 NM_016237.5 deleterious(0.01) possibly_damaging(0.59) 9/17 PDB-ENSP_mappings:4ui9.O,PDB-ENSP_mappings:5a31.O,PDB-ENSP_mappings:5g04.O,PDB-ENSP_mappings:5g05.O,PDB-ENSP_mappings:5khr.O,PDB-ENSP_mappings:5khu.O,PDB-ENSP_mappings:5l9t.O,PDB-ENSP_mappings:5l9u.O,PDB-ENSP_mappings:5lcw.O,PDB-ENSP_mappings:6q6g.O,PDB-ENSP_mappings:6q6h.O,PDB-ENSP_mappings:6tlj.O,PDB-ENSP_mappings:6tm5.O,PANTHER:PTHR12830,PANTHER:PTHR12830:SF9,Superfamily:SSF48452 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . TCG . 549.6 NA NA NA NA NA NA NA NA NA 121330639 ANAPC5 51433 . GRCh38 chr12 121330642 121330642 + Missense_Mutation SNP A A C novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1063T>G p.Ser355Ala p.S355A ENST00000261819 9/17 NA NA NA NA NA NA ANAPC5,missense_variant,p.Ser355Ala,ENST00000261819,NM_016237.5;ANAPC5,missense_variant,p.Ser355Ala,ENST00000541887,NM_001330489.2;ANAPC5,missense_variant,p.Ser256Ala,ENST00000441917,NM_001137559.1;ANAPC5,missense_variant,p.Ser21Ala,ENST00000535482,;ANAPC5,downstream_gene_variant,,ENST00000544442,;ANAPC5,non_coding_transcript_exon_variant,,ENST00000544314,;ANAPC5,non_coding_transcript_exon_variant,,ENST00000545218,;ANAPC5,non_coding_transcript_exon_variant,,ENST00000535472,;ANAPC5,intron_variant,,ENST00000538223,;ANAPC5,missense_variant,p.Ser137Ala,ENST00000539079,;ANAPC5,non_coding_transcript_exon_variant,,ENST00000538334,;ANAPC5,non_coding_transcript_exon_variant,,ENST00000535641,;ANAPC5,non_coding_transcript_exon_variant,,ENST00000539612,;ANAPC5,intron_variant,,ENST00000534976,;ANAPC5,upstream_gene_variant,,ENST00000535463,;ANAPC5,downstream_gene_variant,,ENST00000541652,; C ENSG00000089053 ENST00000261819 Transcript missense_variant 1134/2574 1063/2268 355/755 S/A Tcc/Gcc 1 NA -1 ANAPC5 HGNC HGNC:15713 protein_coding YES CCDS9220.1 ENSP00000261819 Q9UJX4.180 UPI000006DF80 NM_016237.5 tolerated(0.75) benign(0) 9/17 PDB-ENSP_mappings:4ui9.O,PDB-ENSP_mappings:5a31.O,PDB-ENSP_mappings:5g04.O,PDB-ENSP_mappings:5g05.O,PDB-ENSP_mappings:5khr.O,PDB-ENSP_mappings:5khu.O,PDB-ENSP_mappings:5l9t.O,PDB-ENSP_mappings:5l9u.O,PDB-ENSP_mappings:5lcw.O,PDB-ENSP_mappings:6q6g.O,PDB-ENSP_mappings:6q6h.O,PDB-ENSP_mappings:6tlj.O,PDB-ENSP_mappings:6tm5.O,PANTHER:PTHR12830,PANTHER:PTHR12830:SF9,Superfamily:SSF48452 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . GAT . 718.6 NA NA NA NA NA NA NA NA NA 121330642 ORAI1 0 . GRCh38 chr12 121626866 121626870 + Missense_Mutation DEL GCCCC GCCCC - rs1171412399 NA HCI-EC-23 NORMAL GCCCC GCCCC NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.127_131del p.Pro43ThrfsTer43 p.P43Tfs*43 ENST00000617316 NA NA NA NA NA NA ORAI1,coding_sequence_variant,p.Pro43ThrfsTer43,ENST00000617316,NM_032790.3;ORAI1,non_coding_transcript_exon_variant,,ENST00000646827,;ORAI1,non_coding_transcript_exon_variant,,ENST00000611718,;,regulatory_region_variant,,ENSR00000058469,; - ENSG00000276045 ENST00000617316 Transcript coding_sequence_variant -/1496 -/906 -/301 rs1171412399 1 NA 1 ORAI1 HGNC HGNC:25896 protein_coding YES ENSP00000482568 Q96D31.155 A0A024RBT3.50 UPI00001E0578 NM_032790.3 1/2 NA NA NA NA NA NA NA NA NA NA NA NA NA MODIFIER 1 deletion 1 8 NA 1 . GGGCCCCG . 19087.03 NA NA NA NA NA NA NA NA NA 121626865 SETD1B 23067 . GRCh38 chr12 121804752 121804752 + Frame_Shift_Del DEL C C - novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.22del p.His8ThrfsTer27 p.H8Tfs*27 ENST00000604567 2/17 NA NA NA NA NA NA SETD1B,frameshift_variant,p.His8ThrfsTer27,ENST00000604567,NM_001353345.2;SETD1B,frameshift_variant,p.His8ThrfsTer27,ENST00000542440,;SETD1B,frameshift_variant,p.His8ThrfsTer27,ENST00000619791,;SETD1B,frameshift_variant,p.His8ThrfsTer27,ENST00000267197,;RHOF,upstream_gene_variant,,ENST00000541657,;RHOF,upstream_gene_variant,,ENST00000546227,;LINC01089,upstream_gene_variant,,ENST00000428029,;LINC01089,upstream_gene_variant,,ENST00000429892,;LINC01089,upstream_gene_variant,,ENST00000535614,;LINC01089,upstream_gene_variant,,ENST00000535643,;LINC01089,upstream_gene_variant,,ENST00000536662,;LINC01089,upstream_gene_variant,,ENST00000537157,;LINC01089,upstream_gene_variant,,ENST00000538335,;LINC01089,upstream_gene_variant,,ENST00000541694,;LINC01089,upstream_gene_variant,,ENST00000542933,;LINC01089,upstream_gene_variant,,ENST00000543167,;LINC01089,upstream_gene_variant,,ENST00000543334,;LINC01089,upstream_gene_variant,,ENST00000545885,;AC084018.1,downstream_gene_variant,,ENST00000609067,;AC084018.2,downstream_gene_variant,,ENST00000613093,;RHOF,upstream_gene_variant,,ENST00000545544,;,regulatory_region_variant,,ENSR00000270548,; - ENSG00000139718 ENST00000604567 Transcript frameshift_variant 254/8557 15/5901 5/1966 H/X caC/ca 1 NA 1 SETD1B HGNC HGNC:29187 protein_coding YES CCDS86338.1 ENSP00000474253 Q9UPS6.150 UPI00021188EB NM_001353345.2 2/17 MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH NA deletion 5 7 NA 1 . CACC . 3794.06 NA NA NA NA NA NA NA NA NA 121804751 SETD1B 23067 . GRCh38 chr12 121814667 121814667 + Missense_Mutation SNP C C T rs746068698 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2452C>T p.Arg818Trp p.R818W ENST00000604567 7/17 NA NA NA NA NA NA SETD1B,missense_variant,p.Arg818Trp,ENST00000604567,NM_001353345.2;SETD1B,missense_variant,p.Arg818Trp,ENST00000542440,;SETD1B,missense_variant,p.Arg818Trp,ENST00000619791,;SETD1B,missense_variant,p.Arg818Trp,ENST00000267197,; T ENSG00000139718 ENST00000604567 Transcript missense_variant 2691/8557 2452/5901 818/1966 R/W Cgg/Tgg rs746068698 1 NA 1 SETD1B HGNC HGNC:29187 protein_coding YES CCDS86338.1 ENSP00000474253 Q9UPS6.150 UPI00021188EB NM_001353345.2 deleterious(0.01) probably_damaging(0.952) 7/17 PANTHER:PTHR45814,PANTHER:PTHR45814:SF1 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA 1 . CCG . 3048.6 2.654e-05 NA 4.063e-05 NA NA NA NA 0.0002327 8.804e-05 121814667 CFAP251 144406 . GRCh38 chr12 121921491 121921492 + In_Frame_Ins INS - - GAGGAGGAGGAGAAA rs71082910 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.196_197insAGAAAGAGGAGGAGG p.Glu65_Gly66insGluLysGluGluGlu p.E65_G66insEKEEE ENST00000288912 2/22 NA NA NA NA NA NA CFAP251,inframe_insertion,p.Glu65_Gly66insGluLysGluGluGlu,ENST00000288912,NM_144668.6;CFAP251,inframe_insertion,p.Glu65_Gly66insGluLysGluGluGlu,ENST00000397454,NM_001178003.2;PSMD9,downstream_gene_variant,,ENST00000261817,;PSMD9,downstream_gene_variant,,ENST00000541212,NM_002813.7;CFAP251,non_coding_transcript_exon_variant,,ENST00000540779,;PSMD9,downstream_gene_variant,,ENST00000361485,;PSMD9,downstream_gene_variant,,ENST00000535293,;PSMD9,downstream_gene_variant,,ENST00000537407,;PSMD9,downstream_gene_variant,,ENST00000540962,;PSMD9,downstream_gene_variant,,ENST00000543699,;PSMD9,downstream_gene_variant,,ENST00000544254,;PSMD9,downstream_gene_variant,,ENST00000544724,;AC069503.2,downstream_gene_variant,,ENST00000544911,;AC069503.2,downstream_gene_variant,,ENST00000546333,;,regulatory_region_variant,,ENSR00000974421,; GAGGAGGAGGAGAAA ENSG00000158023 ENST00000288912 Transcript inframe_insertion 310-311/3729 186-187/3450 62-63/1149 -/EEEEK -/GAGGAGGAGGAGAAA rs71082910 1 NA 1 CFAP251 HGNC HGNC:28506 protein_coding YES CCDS41853.1 ENSP00000288912 Q8TBY9.152 UPI00001AEB2C NM_144668.6 2/22 Low_complexity_(Seg):seg,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 insertion 1 10 NA 1 . GGG . 5215.06 NA NA NA NA NA NA NA NA NA 121921491 CLIP1 6249 . GRCh38 chr12 122278872 122278872 + Missense_Mutation SNP T T G novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3836A>C p.Asp1279Ala p.D1279A ENST00000620786 23/26 NA NA NA NA NA NA CLIP1,missense_variant,p.Asp1279Ala,ENST00000620786,NM_001247997.1;CLIP1,missense_variant,p.Asp1268Ala,ENST00000358808,NM_002956.2;CLIP1,missense_variant,p.Asp1268Ala,ENST00000302528,;CLIP1,missense_variant,p.Asp1157Ala,ENST00000361654,;CLIP1,missense_variant,p.Asp1233Ala,ENST00000537178,NM_198240.2;CLIP1,missense_variant,p.Asp904Ala,ENST00000545889,;CLIP1,missense_variant,p.Asp630Ala,ENST00000648993,;CLIP1,upstream_gene_variant,,ENST00000540539,;CLIP1,missense_variant,p.Asp64Ala,ENST00000536634,;CLIP1,non_coding_transcript_exon_variant,,ENST00000538120,;CLIP1,non_coding_transcript_exon_variant,,ENST00000543205,;CLIP1,upstream_gene_variant,,ENST00000501271,; G ENSG00000130779 ENST00000620786 Transcript missense_variant 3991/5913 3836/4317 1279/1438 D/A gAt/gCt 1 NA -1 CLIP1 HGNC HGNC:10461 protein_coding YES CCDS58285.1 ENSP00000479322 P30622.201 UPI0000E00D4E NM_001247997.1 deleterious(0) possibly_damaging(0.908) 23/26 Coiled-coils_(Ncoils):Coil,PANTHER:PTHR18916,PANTHER:PTHR18916:SF44 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA 1 . ATC . 3569.6 NA NA NA NA NA NA NA NA NA 122278872 OGFOD2 79676 . GRCh38 chr12 122976681 122976681 + Missense_Mutation SNP C C T rs768726897 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.217C>T p.Arg73Trp p.R73W ENST00000228922 3/7 NA NA NA NA NA NA OGFOD2,missense_variant,p.Arg13Trp,ENST00000397389,NM_024623.3;OGFOD2,missense_variant,p.Arg73Trp,ENST00000228922,NM_001304833.1;OGFOD2,missense_variant,p.Arg146Trp,ENST00000537966,;OGFOD2,5_prime_UTR_variant,,ENST00000536150,NM_001304837.2;OGFOD2,5_prime_UTR_variant,,ENST00000538755,NM_001304834.2;OGFOD2,5_prime_UTR_variant,,ENST00000538628,NM_001304835.2;OGFOD2,5_prime_UTR_variant,,ENST00000545056,;OGFOD2,5_prime_UTR_variant,,ENST00000454694,NM_001304838.2;OGFOD2,5_prime_UTR_variant,,ENST00000545317,;OGFOD2,5_prime_UTR_variant,,ENST00000545612,NM_001304836.2;ABCB9,intron_variant,,ENST00000542678,;ARL6IP4,upstream_gene_variant,,ENST00000315580,NM_018694.3;ARL6IP4,upstream_gene_variant,,ENST00000357866,;ARL6IP4,upstream_gene_variant,,ENST00000392435,NM_001002252.2;ABCB9,upstream_gene_variant,,ENST00000392439,;ARL6IP4,upstream_gene_variant,,ENST00000412505,;ARL6IP4,upstream_gene_variant,,ENST00000413381,;ARL6IP4,upstream_gene_variant,,ENST00000426960,;ARL6IP4,upstream_gene_variant,,ENST00000439686,;ABCB9,upstream_gene_variant,,ENST00000442028,;ARL6IP4,upstream_gene_variant,,ENST00000453766,NM_001002251.2,NM_001278378.1;ARL6IP4,upstream_gene_variant,,ENST00000454885,NM_001278380.1;ARL6IP4,upstream_gene_variant,,ENST00000456762,;OGFOD2,upstream_gene_variant,,ENST00000536439,;ARL6IP4,upstream_gene_variant,,ENST00000542099,;ARL6IP4,upstream_gene_variant,,ENST00000543566,NM_016638.3,NM_001278379.1;ABCB9,upstream_gene_variant,,ENST00000543935,;OGFOD2,non_coding_transcript_exon_variant,,ENST00000542117,;OGFOD2,non_coding_transcript_exon_variant,,ENST00000544358,;OGFOD2,non_coding_transcript_exon_variant,,ENST00000535970,;OGFOD2,non_coding_transcript_exon_variant,,ENST00000536615,;OGFOD2,non_coding_transcript_exon_variant,,ENST00000542940,;OGFOD2,non_coding_transcript_exon_variant,,ENST00000541360,;OGFOD2,intron_variant,,ENST00000544852,;OGFOD2,intron_variant,,ENST00000545033,;ABCB9,upstream_gene_variant,,ENST00000622723,;OGFOD2,synonymous_variant,p.Ser90=,ENST00000540324,;AC026362.1,non_coding_transcript_exon_variant,,ENST00000540866,;OGFOD2,non_coding_transcript_exon_variant,,ENST00000406539,;OGFOD2,non_coding_transcript_exon_variant,,ENST00000545396,;OGFOD2,non_coding_transcript_exon_variant,,ENST00000542037,;OGFOD2,non_coding_transcript_exon_variant,,ENST00000420319,;ARL6IP4,upstream_gene_variant,,ENST00000392433,;ARL6IP4,upstream_gene_variant,,ENST00000442210,;ARL6IP4,upstream_gene_variant,,ENST00000536502,;ARL6IP4,upstream_gene_variant,,ENST00000539576,;ARL6IP4,upstream_gene_variant,,ENST00000539770,;ARL6IP4,upstream_gene_variant,,ENST00000540382,;ARL6IP4,upstream_gene_variant,,ENST00000540708,;OGFOD2,upstream_gene_variant,,ENST00000545976,;,regulatory_region_variant,,ENSR00000058679,; T ENSG00000111325 ENST00000228922 Transcript missense_variant 249/1780 217/1053 73/350 R/W Cgg/Tgg rs768726897 1 NA 1 OGFOD2 HGNC HGNC:25823 protein_coding YES CCDS76617.1 ENSP00000228922 Q6N063.119 UPI0000372B61 NM_001304833.1 deleterious(0.02) possibly_damaging(0.629) 3/7 Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,PANTHER:PTHR24014:SF4,PANTHER:PTHR24014 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . GCG . 5460.6 8.085e-06 6.589e-05 NA NA 5.567e-05 NA NA NA NA 122976681 SNRNP35 11066 . GRCh38 chr12 123465916 123465916 + Missense_Mutation SNP T T C rs1487640873 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.391T>C p.Tyr131His p.Y131H ENST00000412157 2/2 NA NA NA NA NA NA SNRNP35,missense_variant,p.Tyr126His,ENST00000526639,NM_022717.4;SNRNP35,missense_variant,p.Tyr131His,ENST00000412157,NM_180699.3;SNRNP35,missense_variant,p.Tyr126His,ENST00000350887,;RILPL1,downstream_gene_variant,,ENST00000376874,NM_178314.5,NM_001319302.1,NM_001319244.1;SNRNP35,intron_variant,,ENST00000527158,;SNRNP35,downstream_gene_variant,,ENST00000529201,; C ENSG00000184209 ENST00000412157 Transcript missense_variant 757/1140 391/756 131/251 Y/H Tac/Cac rs1487640873 1 NA 1 SNRNP35 HGNC HGNC:30852 protein_coding YES CCDS45005.1 ENSP00000403310 Q16560.161 UPI000019C41D NM_180699.3 deleterious(0.01) possibly_damaging(0.632) 2/2 PROSITE_profiles:PS50102,CDD:cd12237,PANTHER:PTHR13952,PANTHER:PTHR13952:SF6,Gene3D:3.30.70.330,Superfamily:SSF54928 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CTA . 3837.6 NA NA NA NA NA NA NA NA NA 123465916 NCOR2 9612 . GRCh38 chr12 124340175 124340176 + In_Frame_Ins INS - - GCCGCTGCT rs61519723 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.5509_5517dup p.Ser1837_Gly1839dup p.S1837_G1839dup ENST00000405201 37/47 NA NA NA NA NA NA NCOR2,inframe_insertion,p.Ser1837_Gly1839dup,ENST00000405201,NM_006312.6;NCOR2,inframe_insertion,p.Ser1827_Gly1829dup,ENST00000404621,NM_001077261.4;NCOR2,inframe_insertion,p.Ser1827_Gly1829dup,ENST00000429285,NM_001206654.2;NCOR2,inframe_insertion,p.Ser1402_Gly1404dup,ENST00000356219,;NCOR2,inframe_insertion,p.Ser1385_Gly1387dup,ENST00000404121,;NCOR2,inframe_insertion,p.Ser167_Gly169dup,ENST00000453428,;NCOR2,inframe_insertion,p.Ser72_Gly74dup,ENST00000440187,;MIR6880,upstream_gene_variant,,ENST00000622851,;NCOR2,upstream_gene_variant,,ENST00000461081,;NCOR2,upstream_gene_variant,,ENST00000474079,; GCCGCTGCT ENSG00000196498 ENST00000405201 Transcript inframe_insertion 5518-5519/8533 5517-5518/7545 1839-1840/2514 -/SSG -/AGCAGCGGC rs61519723 1 NA -1 NCOR2 HGNC HGNC:7673 protein_coding YES CCDS41858.2 ENSP00000384018 Q9Y618.218 UPI000013D737 NM_006312.6 37/47 Low_complexity_(Seg):seg,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite,PANTHER:PTHR13992,PANTHER:PTHR13992:SF21 NA 0.8979 0.9496 NA 0.9633 0.9672 0.9939 NA NA NA NA NA NA MODERATE 1 insertion 1 NA NA 1 . CCG . 13479.06 NA NA NA NA NA NA NA NA NA 124340175 NCOR2 9612 . GRCh38 chr12 124400661 124400661 + Silent SNP G G A rs767128868 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1653C>T p.Asp551= p.D551= ENST00000405201 15/47 NA NA NA NA NA NA NCOR2,synonymous_variant,p.Asp551=,ENST00000405201,NM_006312.6;NCOR2,synonymous_variant,p.Asp550=,ENST00000404621,NM_001077261.4;NCOR2,synonymous_variant,p.Asp550=,ENST00000429285,NM_001206654.2;NCOR2,synonymous_variant,p.Asp108=,ENST00000356219,;NCOR2,synonymous_variant,p.Asp108=,ENST00000404121,;NCOR2,synonymous_variant,p.Asp551=,ENST00000458234,; A ENSG00000196498 ENST00000405201 Transcript synonymous_variant 1654/8533 1653/7545 551/2514 D gaC/gaT rs767128868 1 NA -1 NCOR2 HGNC HGNC:7673 protein_coding YES CCDS41858.2 ENSP00000384018 Q9Y618.218 UPI000013D737 NM_006312.6 15/47 Low_complexity_(Seg):seg,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite,PANTHER:PTHR13992,PANTHER:PTHR13992:SF21,Gene3D:1.20.58.1880 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . CGT . 1702.6 1.202e-05 NA NA NA NA NA 2.649e-05 NA NA 124400661 NCOR2 9612 . GRCh38 chr12 124402512 124402513 + In_Frame_Ins INS - - GCTGCTGCTGCTGCT rs35831183 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1517_1531dup p.Gln506_Gln510dup p.Q506_Q510dup ENST00000405201 14/47 NA NA NA NA NA NA NCOR2,inframe_insertion,p.Gln506_Gln510dup,ENST00000405201,NM_006312.6;NCOR2,inframe_insertion,p.Gln505_Gln509dup,ENST00000404621,NM_001077261.4;NCOR2,inframe_insertion,p.Gln505_Gln509dup,ENST00000429285,NM_001206654.2;NCOR2,inframe_insertion,p.Gln63_Gln67dup,ENST00000356219,;NCOR2,inframe_insertion,p.Gln63_Gln67dup,ENST00000404121,;NCOR2,inframe_insertion,p.Gln506_Gln510dup,ENST00000458234,;,regulatory_region_variant,,ENSR00000473037,; GCTGCTGCTGCTGCT ENSG00000196498 ENST00000405201 Transcript inframe_insertion 1532-1533/8533 1531-1532/7545 511/2514 P/QQQQQP ccc/cAGCAGCAGCAGCAGCcc rs35831183,COSV104422112,COSV62293653 1 NA -1 NCOR2 HGNC HGNC:7673 protein_coding YES CCDS41858.2 ENSP00000384018 Q9Y618.218 UPI000013D737 NM_006312.6 14/47 MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite,PANTHER:PTHR13992,PANTHER:PTHR13992:SF21 NA NA NA NA NA NA NA NA NA 0,1,1 NA NA NA NA MODERATE 1 insertion 1 NA 0,1,1 NA 1 . GGG . 482.64 NA NA NA NA NA NA NA NA NA 124402512 TMEM132B 114795 . GRCh38 chr12 125349660 125349660 + Silent SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.261C>T p.Ser87= p.S87= ENST00000299308 2/9 NA NA NA NA NA NA TMEM132B,synonymous_variant,p.Ser87=,ENST00000299308,NM_001366854.1,NM_052907.3;TMEM132B,non_coding_transcript_exon_variant,,ENST00000418253,;TMEM132B,non_coding_transcript_exon_variant,,ENST00000535330,;TMEM132B,non_coding_transcript_exon_variant,,ENST00000534945,; T ENSG00000139364 ENST00000299308 Transcript synonymous_variant 269/10906 261/3237 87/1078 S agC/agT 1 NA 1 TMEM132B HGNC HGNC:29397 protein_coding YES CCDS41859.1 ENSP00000299308 Q14DG7.98 UPI00006BFF58 NM_001366854.1,NM_052907.3 2/9 PANTHER:PTHR13388,PANTHER:PTHR13388:SF12,Pfam:PF15705 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . GCT . 4088.6 NA NA NA NA NA NA NA NA NA 125349660 SLC15A4 121260 . GRCh38 chr12 128814849 128814849 + Silent SNP G G C novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.768C>G p.Ala256= p.A256= ENST00000266771 2/8 NA NA NA NA NA NA SLC15A4,synonymous_variant,p.Ala256=,ENST00000266771,NM_145648.4;SLC15A4,non_coding_transcript_exon_variant,,ENST00000539703,;SLC15A4,downstream_gene_variant,,ENST00000535272,;AC108704.2,upstream_gene_variant,,ENST00000623017,;SLC15A4,synonymous_variant,p.Ala202=,ENST00000376744,;SLC15A4,synonymous_variant,p.Ala116=,ENST00000376740,;SLC15A4,non_coding_transcript_exon_variant,,ENST00000366292,;SLC15A4,upstream_gene_variant,,ENST00000544112,; C ENSG00000139370 ENST00000266771 Transcript synonymous_variant 783/2751 768/1734 256/577 A gcC/gcG 1 NA -1 SLC15A4 HGNC HGNC:23090 protein_coding YES CCDS9264.1 ENSP00000266771 Q8N697.134 UPI000006F120 NM_145648.4 2/8 CDD:cd17348,PANTHER:PTHR11654,PANTHER:PTHR11654:SF80,Gene3D:1.20.1250.20,Pfam:PF00854,Superfamily:SSF103473 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . AGG . 1465.6 NA NA NA NA NA NA NA NA NA 128814849 TMEM132D 121256 . GRCh38 chr12 129700307 129700307 + Silent SNP G G A rs139627769 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.471C>T p.Asp157= p.D157= ENST00000422113 2/9 NA NA NA NA NA NA TMEM132D,synonymous_variant,p.Asp157=,ENST00000422113,NM_133448.3;AC117373.1,upstream_gene_variant,,ENST00000544036,;AC117373.2,downstream_gene_variant,,ENST00000657209,; A ENSG00000151952 ENST00000422113 Transcript synonymous_variant 1157/6135 471/3300 157/1099 D gaC/gaT rs139627769 1 NA -1 TMEM132D HGNC HGNC:29411 protein_coding YES CCDS9266.1 ENSP00000408581 Q14C87.100 UPI000023759C NM_133448.3 2/9 PANTHER:PTHR13388:SF2,PANTHER:PTHR13388,Pfam:PF15705 2e-04 NA NA NA NA 0.001 NA NA 0.0001163 NA NA NA NA LOW 1 SNV 1 NA NA NA . CGT . 3334.6 2.393e-05 NA NA NA 5.438e-05 NA 2.65e-05 0.0003269 NA 129700307 ULK1 8408 . GRCh38 chr12 131921147 131921147 + Silent SNP C C T rs149274203 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3009C>T p.Cys1003= p.C1003= ENST00000321867 27/28 NA NA NA NA NA NA ULK1,synonymous_variant,p.Cys1003=,ENST00000321867,NM_003565.4;AC131009.1,downstream_gene_variant,,ENST00000539078,;ULK1,non_coding_transcript_exon_variant,,ENST00000540568,;ULK1,non_coding_transcript_exon_variant,,ENST00000544718,;ULK1,non_coding_transcript_exon_variant,,ENST00000540647,;ULK1,downstream_gene_variant,,ENST00000541761,; T ENSG00000177169 ENST00000321867 Transcript synonymous_variant 3389/5322 3009/3153 1003/1050 C tgC/tgT rs149274203 1 NA 1 ULK1 HGNC HGNC:12558 protein_coding YES CCDS9274.1 ENSP00000324560 O75385.196 UPI00001FB0D9 NM_003565.4 27/28 PANTHER:PTHR24348,PANTHER:PTHR24348:SF19,Pfam:PF12063,PIRSF:PIRSF000580,Gene3D:1.20.58.280 NA NA NA NA NA NA NA 0.000227 NA NA NA NA NA LOW 1 SNV 1 NA NA NA . GCG . 2333.6 2.479e-05 NA NA NA NA NA 1.799e-05 NA 0.0001307 131921147 EP400 57634 . GRCh38 chr12 132045478 132045478 + Missense_Mutation SNP T T C novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.6944T>C p.Leu2315Pro p.L2315P ENST00000389561 38/53 NA NA NA NA NA NA EP400,missense_variant,p.Leu2315Pro,ENST00000389561,NM_015409.5;EP400,non_coding_transcript_exon_variant,,ENST00000611841,; C ENSG00000183495 ENST00000389561 Transcript missense_variant 7074/12289 6944/9372 2315/3123 L/P cTg/cCg 1 NA 1 EP400 HGNC HGNC:11958 protein_coding YES CCDS31929.2 ENSP00000374212 Q96L91.184 UPI00004566BC NM_015409.5 deleterious(0.01) probably_damaging(0.971) 38/53 PANTHER:PTHR46459 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . CTG . 5056.6 NA NA NA NA NA NA NA NA NA 132045478 EP400 57634 . GRCh38 chr12 132062548 132062549 + In_Frame_Ins INS - - CAGCAG rs528214697 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.8220_8225dup p.Gln2747_Gln2748dup p.Q2747_Q2748dup ENST00000389561 47/53 NA NA NA NA NA NA EP400,inframe_insertion,p.Gln2747_Gln2748dup,ENST00000389561,NM_015409.5;EP400,upstream_gene_variant,,ENST00000330386,;EP400,upstream_gene_variant,,ENST00000611739,; CAGCAG ENSG00000183495 ENST00000389561 Transcript inframe_insertion 8311-8312/12289 8181-8182/9372 2727-2728/3123 -/QQ -/CAGCAG rs528214697,COSV57761901 1 NA 1 EP400 HGNC HGNC:11958 protein_coding YES CCDS31929.2 ENSP00000374212 Q96L91.184 UPI00004566BC NM_015409.5 47/53 Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,PANTHER:PTHR46459 NA NA NA NA NA NA NA NA NA 0,1 30679663 NA NA NA NA MODERATE 1 insertion 5 44 0,1 NA NA . AAC . 2598.64 NA NA NA NA NA NA NA NA NA 132062548 ZNF605 100289635 . GRCh38 chr12 132927084 132927084 + Missense_Mutation SNP T T C rs116985064 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.308A>G p.Tyr103Cys p.Y103C ENST00000392321 5/5 NA NA NA NA NA NA ZNF605,missense_variant,p.Tyr72Cys,ENST00000360187,NM_183238.4;ZNF605,missense_variant,p.Tyr103Cys,ENST00000392321,NM_001164715.2;CHFR,intron_variant,,ENST00000536932,;ZNF605,non_coding_transcript_exon_variant,,ENST00000331711,; C ENSG00000196458 ENST00000392321 Transcript missense_variant 534/6156 308/2019 103/672 Y/C tAt/tGt rs116985064 1 NA -1 ZNF605 HGNC HGNC:28068 protein_coding YES CCDS53850.1 ENSP00000376135 Q86T29.146 UPI000058F1FC NM_001164715.2 tolerated(0.2) possibly_damaging(0.533) 5/5 PANTHER:PTHR24377,PANTHER:PTHR24377:SF120 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 2 NA NA NA . ATA . 3102.6 NA NA NA NA NA NA NA NA NA 132927084 ZNF26 7574 . GRCh38 chr12 133011394 133011394 + Silent SNP C C T rs3825108 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1515C>T p.Thr505= p.T505= ENST00000328654 4/4 NA NA NA NA NA NA ZNF26,synonymous_variant,p.Thr505=,ENST00000328654,NM_001330514.2,NM_001330513.2,NM_019591.4,NM_001256280.2;ZNF26,downstream_gene_variant,,ENST00000540238,;ZNF26,downstream_gene_variant,,ENST00000544181,NM_001256279.2;ZNF26,non_coding_transcript_exon_variant,,ENST00000534834,; T ENSG00000198393 ENST00000328654 Transcript synonymous_variant 1989/17697 1515/1602 505/533 T acC/acT rs3825108 1 NA 1 ZNF26 HGNC HGNC:13053 protein_coding YES CCDS31939.1 ENSP00000333725 P17031.191 V9HW07.44 UPI000000DB5F NM_001330514.2,NM_001330513.2,NM_019591.4,NM_001256280.2 4/4 PROSITE_profiles:PS50157,PANTHER:PTHR24377:SF232,PANTHER:PTHR24377,Gene3D:3.30.160.60,Superfamily:SSF57667 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . CCG . 3496.6 NA NA NA NA NA NA NA NA NA 133011394 ZNF84 7637 . GRCh38 chr12 133057864 133057864 + Silent SNP A A C rs623100 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1149A>C p.Ala383= p.A383= ENST00000327668 5/5 NA NA NA NA NA NA ZNF84,synonymous_variant,p.Ala383=,ENST00000327668,NM_001289972.1;ZNF84,synonymous_variant,p.Ala383=,ENST00000392319,NM_003428.5;ZNF84,synonymous_variant,p.Ala383=,ENST00000539354,NM_001127372.3,NM_001289971.2;ZNF84,synonymous_variant,p.Ala382=,ENST00000543758,;ZNF84,intron_variant,,ENST00000535439,;ZNF84,downstream_gene_variant,,ENST00000540031,;ZNF84,downstream_gene_variant,,ENST00000542874,;ZNF84,downstream_gene_variant,,ENST00000543124,; C ENSG00000198040 ENST00000327668 Transcript synonymous_variant 1729/7162 1149/2217 383/738 A gcA/gcC rs623100 1 NA 1 ZNF84 HGNC HGNC:13159 protein_coding YES CCDS31940.1 ENSP00000331465 P51523.176 UPI000016AACC NM_001289972.1 5/5 Superfamily:SSF57667,SMART:SM00355,Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PANTHER:PTHR23226,PANTHER:PTHR23226,PANTHER:PTHR23226:SF220,PANTHER:PTHR23226:SF220,PROSITE_profiles:PS50157 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . CAT . 4541.03 NA NA NA NA NA NA NA NA NA 133057864 ZMYM2 7750 . GRCh38 chr13 20082954 20082954 + Frame_Shift_Del DEL A A - novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3749del p.Asn1250IlefsTer3 p.N1250Ifs*3 ENST00000610343 23/25 NA NA NA NA NA NA ZMYM2,frameshift_variant,p.Asn1250IlefsTer3,ENST00000610343,NM_001353163.2,NM_001353157.2,NM_001353164.2,NM_001353159.2,NM_001190965.4,NM_197968.4,NM_001353165.2,NM_001353161.3;ZMYM2,frameshift_variant,p.Asn1250IlefsTer3,ENST00000382874,NM_001190964.4,NM_001353162.3;ZMYM2,frameshift_variant,p.Asn1250IlefsTer3,ENST00000382871,NM_003453.6;ZMYM2,upstream_gene_variant,,ENST00000490422,;ZMYM2,non_coding_transcript_exon_variant,,ENST00000382883,;ZMYM2,non_coding_transcript_exon_variant,,ENST00000382870,;ZMYM2,non_coding_transcript_exon_variant,,ENST00000494061,; - ENSG00000121741 ENST00000610343 Transcript frameshift_variant 3993/10200 3742/4134 1248/1377 K/X Aaa/aa 1 NA 1 ZMYM2 HGNC HGNC:12989 protein_coding YES CCDS45016.1 ENSP00000479904 Q9UBW7.184 A0A024RDS3.47 UPI000013C318 NM_001353163.2,NM_001353157.2,NM_001353164.2,NM_001353159.2,NM_001190965.4,NM_197968.4,NM_001353165.2,NM_001353161.3 23/25 Pfam:PF12012,PANTHER:PTHR45736,PANTHER:PTHR45736:SF6 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 7 NA 1 . GGAA . 1906.6 NA NA NA NA NA NA NA NA NA 20082953 CRYL1 51084 . GRCh38 chr13 20432113 20432113 + Missense_Mutation SNP G G A rs770237663 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.622C>T p.Arg208Trp p.R208W ENST00000298248 5/8 NA NA NA NA NA NA CRYL1,missense_variant,p.Arg186Trp,ENST00000643750,;CRYL1,missense_variant,p.Arg186Trp,ENST00000382812,;CRYL1,missense_variant,p.Arg208Trp,ENST00000298248,NM_015974.3;CRYL1,missense_variant,p.Arg154Trp,ENST00000644593,NM_001363647.1;CRYL1,missense_variant,p.Arg139Trp,ENST00000480748,;MIR4499,downstream_gene_variant,,ENST00000584834,;CRYL1,non_coding_transcript_exon_variant,,ENST00000644872,;CRYL1,missense_variant,p.Arg208Trp,ENST00000643887,;CRYL1,missense_variant,p.Arg208Trp,ENST00000644167,;CRYL1,3_prime_UTR_variant,,ENST00000644153,;CRYL1,3_prime_UTR_variant,,ENST00000643035,;CRYL1,non_coding_transcript_exon_variant,,ENST00000645525,; A ENSG00000165475 ENST00000298248 Transcript missense_variant 685/1483 622/960 208/319 R/W Cgg/Tgg rs770237663,COSV53419167 1 NA -1 CRYL1 HGNC HGNC:18246 protein_coding YES CCDS41871.1 ENSP00000298248 Q9Y2S2.155 V9HWG2.51 UPI000013E4B3 NM_015974.3 deleterious_low_confidence(0) probably_damaging(0.999) 5/8 PDB-ENSP_mappings:3f3s.A,PDB-ENSP_mappings:3f3s.B,PANTHER:PTHR43492,PANTHER:PTHR43492:SF2,PROSITE_patterns:PS00067,Gene3D:1.10.1040.10,PIRSF:PIRSF000105,Pfam:PF00725,Superfamily:SSF48179 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 1 NA 0,1 NA NA . CGC . 2484.6 NA NA NA NA NA NA NA NA NA 20432113 NUP58 9818 . GRCh38 chr13 25336946 25336946 + Silent SNP A A G rs1370039555 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1446A>G p.Pro482= p.P482= ENST00000381736 14/16 NA NA NA NA NA NA NUP58,synonymous_variant,p.Pro482=,ENST00000381736,NM_014089.4;NUP58,synonymous_variant,p.Pro470=,ENST00000381718,NM_001008564.2;NUP58,downstream_gene_variant,,ENST00000381747,;NUP58,downstream_gene_variant,,ENST00000394327,;NUP58,downstream_gene_variant,,ENST00000463407,;NUP58,non_coding_transcript_exon_variant,,ENST00000466694,;NUP58,non_coding_transcript_exon_variant,,ENST00000477876,; G ENSG00000139496 ENST00000381736 Transcript synonymous_variant 1595/4236 1446/1800 482/599 P ccA/ccG rs1370039555,COSV67751115 1 NA 1 NUP58 HGNC HGNC:20261 protein_coding YES CCDS9314.1 ENSP00000371155 Q9BVL2.166 UPI000006D9D4 NM_014089.4 14/16 PDB-ENSP_mappings:5ijn.G,PDB-ENSP_mappings:5ijn.M,PDB-ENSP_mappings:5ijn.S,PDB-ENSP_mappings:5ijn.Y,PDB-ENSP_mappings:5ijo.G,PDB-ENSP_mappings:5ijo.M,PDB-ENSP_mappings:5ijo.S,PDB-ENSP_mappings:5ijo.Y,Pfam:PF15967,PANTHER:PTHR13437,PANTHER:PTHR13437:SF2,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA LOW 1 SNV 1 NA 0,1 NA NA . CAT . 36.6 NA NA NA NA NA NA NA NA NA 25336946 CDK8 1024 . GRCh38 chr13 26385299 26385299 + Silent SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.603C>T p.Ala201= p.A201= ENST00000381527 6/13 NA NA NA NA NA NA CDK8,synonymous_variant,p.Ala201=,ENST00000381527,NM_001260.3,NM_001318368.2;CDK8,synonymous_variant,p.Ala30=,ENST00000465820,NM_001346501.2;CDK8,3_prime_UTR_variant,,ENST00000536792,; T ENSG00000132964 ENST00000381527 Transcript synonymous_variant 1116/3065 603/1395 201/464 A gcC/gcT 1 NA 1 CDK8 HGNC HGNC:1779 protein_coding YES CCDS9317.1 ENSP00000370938 P49336.187 UPI000002E531 NM_001260.3,NM_001318368.2 6/13 PDB-ENSP_mappings:3rgf.A,PDB-ENSP_mappings:4crl.A,PDB-ENSP_mappings:4f6s.A,PDB-ENSP_mappings:4f6u.A,PDB-ENSP_mappings:4f6w.A,PDB-ENSP_mappings:4f70.A,PDB-ENSP_mappings:4f7j.A,PDB-ENSP_mappings:4f7l.A,PDB-ENSP_mappings:4f7n.A,PDB-ENSP_mappings:4f7s.A,PDB-ENSP_mappings:4g6l.A,PDB-ENSP_mappings:5bnj.A,PDB-ENSP_mappings:5cei.A,PDB-ENSP_mappings:5fgk.A,PDB-ENSP_mappings:5hbe.A,PDB-ENSP_mappings:5hbh.A,PDB-ENSP_mappings:5hbj.A,PDB-ENSP_mappings:5hnb.A,PDB-ENSP_mappings:5hvy.A,PDB-ENSP_mappings:5i5z.A,PDB-ENSP_mappings:5icp.A,PDB-ENSP_mappings:5idn.A,PDB-ENSP_mappings:5idp.A,PDB-ENSP_mappings:5xqx.A,PDB-ENSP_mappings:5xs2.A,PDB-ENSP_mappings:6qtg.A,PDB-ENSP_mappings:6qtj.A,PDB-ENSP_mappings:6r3s.A,PDB-ENSP_mappings:6t41.A,PROSITE_profiles:PS50011,CDD:cd07868,PANTHER:PTHR24056,PANTHER:PTHR24056:SF243,Gene3D:1.10.510.10,Pfam:PF00069,SMART:SM00220,Superfamily:SSF56112 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . CCC . 87.6 NA NA NA NA NA NA NA NA NA 26385299 CDK8 1024 . GRCh38 chr13 26385302 26385302 + Silent SNP T T A novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.606T>A p.Pro202= p.P202= ENST00000381527 6/13 NA NA NA NA NA NA CDK8,synonymous_variant,p.Pro202=,ENST00000381527,NM_001260.3,NM_001318368.2;CDK8,synonymous_variant,p.Pro31=,ENST00000465820,NM_001346501.2;CDK8,3_prime_UTR_variant,,ENST00000536792,; A ENSG00000132964 ENST00000381527 Transcript synonymous_variant 1119/3065 606/1395 202/464 P ccT/ccA 1 NA 1 CDK8 HGNC HGNC:1779 protein_coding YES CCDS9317.1 ENSP00000370938 P49336.187 UPI000002E531 NM_001260.3,NM_001318368.2 6/13 PDB-ENSP_mappings:3rgf.A,PDB-ENSP_mappings:4crl.A,PDB-ENSP_mappings:4f6s.A,PDB-ENSP_mappings:4f6u.A,PDB-ENSP_mappings:4f6w.A,PDB-ENSP_mappings:4f70.A,PDB-ENSP_mappings:4f7j.A,PDB-ENSP_mappings:4f7l.A,PDB-ENSP_mappings:4f7n.A,PDB-ENSP_mappings:4f7s.A,PDB-ENSP_mappings:4g6l.A,PDB-ENSP_mappings:5bnj.A,PDB-ENSP_mappings:5cei.A,PDB-ENSP_mappings:5fgk.A,PDB-ENSP_mappings:5hbe.A,PDB-ENSP_mappings:5hbh.A,PDB-ENSP_mappings:5hbj.A,PDB-ENSP_mappings:5hnb.A,PDB-ENSP_mappings:5hvy.A,PDB-ENSP_mappings:5i5z.A,PDB-ENSP_mappings:5icp.A,PDB-ENSP_mappings:5idn.A,PDB-ENSP_mappings:5idp.A,PDB-ENSP_mappings:5xqx.A,PDB-ENSP_mappings:5xs2.A,PDB-ENSP_mappings:6qtg.A,PDB-ENSP_mappings:6qtj.A,PDB-ENSP_mappings:6r3s.A,PDB-ENSP_mappings:6t41.A,PROSITE_profiles:PS50011,CDD:cd07868,PANTHER:PTHR24056,PANTHER:PTHR24056:SF243,Gene3D:1.10.510.10,Pfam:PF00069,SMART:SM00220,Superfamily:SSF56112 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . CTG . 87.6 NA NA NA NA NA NA NA NA NA 26385302 CDK8 1024 . GRCh38 chr13 26385306 26385306 + Silent SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.610C>T p.Leu204= p.L204= ENST00000381527 6/13 NA NA NA NA NA NA CDK8,synonymous_variant,p.Leu204=,ENST00000381527,NM_001260.3,NM_001318368.2;CDK8,synonymous_variant,p.Leu33=,ENST00000465820,NM_001346501.2;CDK8,3_prime_UTR_variant,,ENST00000536792,; T ENSG00000132964 ENST00000381527 Transcript synonymous_variant 1123/3065 610/1395 204/464 L Cta/Tta 1 NA 1 CDK8 HGNC HGNC:1779 protein_coding YES CCDS9317.1 ENSP00000370938 P49336.187 UPI000002E531 NM_001260.3,NM_001318368.2 6/13 PDB-ENSP_mappings:3rgf.A,PDB-ENSP_mappings:4crl.A,PDB-ENSP_mappings:4f6s.A,PDB-ENSP_mappings:4f6u.A,PDB-ENSP_mappings:4f6w.A,PDB-ENSP_mappings:4f70.A,PDB-ENSP_mappings:4f7j.A,PDB-ENSP_mappings:4f7l.A,PDB-ENSP_mappings:4f7n.A,PDB-ENSP_mappings:4f7s.A,PDB-ENSP_mappings:4g6l.A,PDB-ENSP_mappings:5bnj.A,PDB-ENSP_mappings:5cei.A,PDB-ENSP_mappings:5fgk.A,PDB-ENSP_mappings:5hbe.A,PDB-ENSP_mappings:5hbh.A,PDB-ENSP_mappings:5hbj.A,PDB-ENSP_mappings:5hnb.A,PDB-ENSP_mappings:5hvy.A,PDB-ENSP_mappings:5i5z.A,PDB-ENSP_mappings:5icp.A,PDB-ENSP_mappings:5idn.A,PDB-ENSP_mappings:5idp.A,PDB-ENSP_mappings:5xqx.A,PDB-ENSP_mappings:5xs2.A,PDB-ENSP_mappings:6qtg.A,PDB-ENSP_mappings:6qtj.A,PDB-ENSP_mappings:6r3s.A,PDB-ENSP_mappings:6t41.A,PROSITE_profiles:PS50011,CDD:cd07868,PANTHER:PTHR24056,PANTHER:PTHR24056:SF243,Gene3D:1.10.510.10,Pfam:PF00069,SMART:SM00220,Superfamily:SSF56112 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . ACT . 102.6 NA NA NA NA NA NA NA NA NA 26385306 CDK8 1024 . GRCh38 chr13 26385311 26385311 + Silent SNP T T C novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.615T>C p.Leu205= p.L205= ENST00000381527 6/13 NA NA NA NA NA NA CDK8,synonymous_variant,p.Leu205=,ENST00000381527,NM_001260.3,NM_001318368.2;CDK8,synonymous_variant,p.Leu34=,ENST00000465820,NM_001346501.2;CDK8,3_prime_UTR_variant,,ENST00000536792,; C ENSG00000132964 ENST00000381527 Transcript synonymous_variant 1128/3065 615/1395 205/464 L ctT/ctC 1 NA 1 CDK8 HGNC HGNC:1779 protein_coding YES CCDS9317.1 ENSP00000370938 P49336.187 UPI000002E531 NM_001260.3,NM_001318368.2 6/13 PDB-ENSP_mappings:3rgf.A,PDB-ENSP_mappings:4crl.A,PDB-ENSP_mappings:4f6s.A,PDB-ENSP_mappings:4f6u.A,PDB-ENSP_mappings:4f6w.A,PDB-ENSP_mappings:4f70.A,PDB-ENSP_mappings:4f7j.A,PDB-ENSP_mappings:4f7l.A,PDB-ENSP_mappings:4f7n.A,PDB-ENSP_mappings:4f7s.A,PDB-ENSP_mappings:4g6l.A,PDB-ENSP_mappings:5bnj.A,PDB-ENSP_mappings:5cei.A,PDB-ENSP_mappings:5fgk.A,PDB-ENSP_mappings:5hbe.A,PDB-ENSP_mappings:5hbh.A,PDB-ENSP_mappings:5hbj.A,PDB-ENSP_mappings:5hnb.A,PDB-ENSP_mappings:5hvy.A,PDB-ENSP_mappings:5i5z.A,PDB-ENSP_mappings:5icp.A,PDB-ENSP_mappings:5idn.A,PDB-ENSP_mappings:5idp.A,PDB-ENSP_mappings:5xqx.A,PDB-ENSP_mappings:5xs2.A,PDB-ENSP_mappings:6qtg.A,PDB-ENSP_mappings:6qtj.A,PDB-ENSP_mappings:6r3s.A,PDB-ENSP_mappings:6t41.A,PROSITE_profiles:PS50011,CDD:cd07868,PANTHER:PTHR24056,PANTHER:PTHR24056:SF243,Gene3D:1.10.510.10,Pfam:PF00069,SMART:SM00220,Superfamily:SSF56112 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . TTC . 117.6 NA NA NA NA NA NA NA NA NA 26385311 CDK8 1024 . GRCh38 chr13 26385314 26385314 + Silent SNP T T C novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.618T>C p.Leu206= p.L206= ENST00000381527 6/13 NA NA NA NA NA NA CDK8,synonymous_variant,p.Leu206=,ENST00000381527,NM_001260.3,NM_001318368.2;CDK8,synonymous_variant,p.Leu35=,ENST00000465820,NM_001346501.2;CDK8,3_prime_UTR_variant,,ENST00000536792,; C ENSG00000132964 ENST00000381527 Transcript synonymous_variant 1131/3065 618/1395 206/464 L ctT/ctC 1 NA 1 CDK8 HGNC HGNC:1779 protein_coding YES CCDS9317.1 ENSP00000370938 P49336.187 UPI000002E531 NM_001260.3,NM_001318368.2 6/13 PDB-ENSP_mappings:3rgf.A,PDB-ENSP_mappings:4crl.A,PDB-ENSP_mappings:4f6s.A,PDB-ENSP_mappings:4f6u.A,PDB-ENSP_mappings:4f6w.A,PDB-ENSP_mappings:4f70.A,PDB-ENSP_mappings:4f7j.A,PDB-ENSP_mappings:4f7l.A,PDB-ENSP_mappings:4f7n.A,PDB-ENSP_mappings:4f7s.A,PDB-ENSP_mappings:4g6l.A,PDB-ENSP_mappings:5bnj.A,PDB-ENSP_mappings:5cei.A,PDB-ENSP_mappings:5fgk.A,PDB-ENSP_mappings:5hbe.A,PDB-ENSP_mappings:5hbh.A,PDB-ENSP_mappings:5hbj.A,PDB-ENSP_mappings:5hnb.A,PDB-ENSP_mappings:5hvy.A,PDB-ENSP_mappings:5i5z.A,PDB-ENSP_mappings:5icp.A,PDB-ENSP_mappings:5idn.A,PDB-ENSP_mappings:5idp.A,PDB-ENSP_mappings:5xqx.A,PDB-ENSP_mappings:5xs2.A,PDB-ENSP_mappings:6qtg.A,PDB-ENSP_mappings:6qtj.A,PDB-ENSP_mappings:6r3s.A,PDB-ENSP_mappings:6t41.A,PROSITE_profiles:PS50011,CDD:cd07868,PANTHER:PTHR24056,PANTHER:PTHR24056:SF243,Gene3D:1.10.510.10,Pfam:PF00069,SMART:SM00220,Superfamily:SSF56112 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . TTG . 123.6 NA NA NA NA NA NA NA NA NA 26385314 LNX2 222484 . GRCh38 chr13 27562518 27562518 + Frame_Shift_Del DEL C C - novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1119del p.Leu374TrpfsTer8 p.L374Wfs*8 ENST00000316334 5/10 NA NA NA NA NA NA LNX2,frameshift_variant,p.Leu374TrpfsTer8,ENST00000316334,NM_153371.4;LNX2,frameshift_variant,p.Leu374TrpfsTer8,ENST00000649248,; - ENSG00000139517 ENST00000316334 Transcript frameshift_variant 1374/4750 1119/2073 373/690 G/X ggG/gg 1 NA -1 LNX2 HGNC HGNC:20421 protein_coding YES CCDS9323.1 ENSP00000325929 Q8N448.151 UPI000012E7A7 NM_153371.4 5/10 PDB-ENSP_mappings:2vwr.A,PDB-ENSP_mappings:5e11.A,PDB-ENSP_mappings:5e1y.A,PDB-ENSP_mappings:5e21.A,PDB-ENSP_mappings:5e22.A,PDB-ENSP_mappings:5e22.B,PROSITE_profiles:PS50106,CDD:cd00992,PANTHER:PTHR19964,PANTHER:PTHR19964:SF33,Pfam:PF00595,Gene3D:2.30.42.10,SMART:SM00228,Superfamily:SSF50156 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 NA NA NA . AACC . 1607.6 NA NA NA NA NA NA NA NA NA 27562517 BRCA2 675 . GRCh38 chr13 32332714 32332714 + Silent SNP C C T rs866473840 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1236C>T p.Pro412= p.P412= ENST00000380152 10/27 NA NA NA NA NA NA BRCA2,synonymous_variant,p.Pro412=,ENST00000380152,NM_000059.4;BRCA2,synonymous_variant,p.Pro412=,ENST00000544455,;BRCA2,synonymous_variant,p.Pro289=,ENST00000530893,;BRCA2,non_coding_transcript_exon_variant,,ENST00000614259,; T ENSG00000139618 ENST00000380152 Transcript synonymous_variant 1435/11954 1236/10257 412/3418 P ccC/ccT rs866473840 1 NA 1 BRCA2 HGNC HGNC:1101 protein_coding YES CCDS9344.1 ENSP00000369497 P51587.222 UPI00001FCBCC NM_000059.4 10/27 PIRSF:PIRSF002397,PANTHER:PTHR11289 NA NA NA NA NA NA NA NA NA likely_benign NA NA NA NA LOW 1 SNV 5 NA 1 NA 1 . CCC . 3185.6 NA NA NA NA NA NA NA NA NA 32332714 KL 9365 . GRCh38 chr13 33053877 33053877 + Silent SNP C C T NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.930C>T p.Asp310= p.D310= ENST00000380099 2/5 NA NA NA NA NA NA KL,synonymous_variant,p.Asp310=,ENST00000380099,NM_004795.4;KL,non_coding_transcript_exon_variant,,ENST00000487852,; T ENSG00000133116 ENST00000380099 Transcript synonymous_variant 948/5014 930/3039 310/1012 D gaC/gaT COSV66308842 1 NA 1 KL HGNC HGNC:6344 protein_coding YES CCDS9347.1 ENSP00000369442 Q9UEF7.163 UPI000013CEBA NM_004795.4 2/5 PDB-ENSP_mappings:5w21.A,Superfamily:SSF51445,Gene3D:3.20.20.80,Pfam:PF00232,PANTHER:PTHR10353,PANTHER:PTHR10353:SF10 NA NA NA NA NA NA NA NA NA 1 NA NA NA NA LOW 1 SNV 1 NA 1 NA 1 . ACC . 3781.6 NA NA NA NA NA NA NA NA NA 33053877 NBEA 26960 . GRCh38 chr13 35667479 35667479 + Missense_Mutation SNP A A G novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.8510A>G p.His2837Arg p.H2837R ENST00000310336 56/58 NA NA NA NA NA NA NBEA,missense_variant,p.His2836Arg,ENST00000400445,NM_015678.5;NBEA,missense_variant,p.His2837Arg,ENST00000310336,;NBEA,missense_variant,p.His2836Arg,ENST00000629018,;NBEA,missense_variant,p.His2833Arg,ENST00000379939,NM_001379245.1;NBEA,missense_variant,p.His629Arg,ENST00000537702,NM_001204197.3;NBEA,missense_variant,p.His414Arg,ENST00000379922,;NBEA,upstream_gene_variant,,ENST00000461581,; G ENSG00000172915 ENST00000310336 Transcript missense_variant 8716/10794 8510/8844 2837/2947 H/R cAc/cGc 1 NA 1 NBEA HGNC HGNC:7648 protein_coding YES ENSP00000308534 F5GXV7.79 UPI0004E4C901 tolerated(0.22) probably_damaging(0.976) 56/58 PANTHER:PTHR13743:SF62,PANTHER:PTHR13743,Superfamily:SSF50978 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . CAC . 1157.6 NA NA NA NA NA NA NA NA NA 35667479 SMAD9 4093 . GRCh38 chr13 36872663 36872663 + Missense_Mutation SNP T T A novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.665A>T p.His222Leu p.H222L ENST00000379826 3/7 NA NA NA NA NA NA SMAD9,missense_variant,p.His222Leu,ENST00000379826,NM_001127217.3;SMAD9,missense_variant,p.His222Leu,ENST00000350148,NM_005905.6,NM_001378621.1;SMAD9,3_prime_UTR_variant,,ENST00000399275,;,regulatory_region_variant,,ENSR00000478852,;,regulatory_region_variant,,ENSR00000478853,; A ENSG00000120693 ENST00000379826 Transcript missense_variant 974/5558 665/1404 222/467 H/L cAc/cTc 1 NA -1 SMAD9 HGNC HGNC:6774 protein_coding YES CCDS45032.1 ENSP00000369154 O15198.206 UPI0000135A85 NM_001127217.3 tolerated(0.66) benign(0) 3/7 MobiDB_lite:mobidb-lite,PANTHER:PTHR13703:SF23,PANTHER:PTHR13703 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA 1 . GTG . 2098.6 NA NA NA NA NA NA NA NA NA 36872663 FREM2 341640 . GRCh38 chr13 38692357 38692357 + Silent SNP C C A novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.5013C>A p.Ala1671= p.A1671= ENST00000280481 1/24 NA NA NA NA NA NA FREM2,synonymous_variant,p.Ala1671=,ENST00000280481,NM_207361.6; A ENSG00000150893 ENST00000280481 Transcript synonymous_variant 5281/16122 5013/9510 1671/3169 A gcC/gcA 1 NA 1 FREM2 HGNC HGNC:25396 protein_coding YES CCDS31960.1 ENSP00000280481 Q5SZK8.143 UPI000443805C NM_207361.6 1/24 Pfam:PF16184,PROSITE_profiles:PS51854,PANTHER:PTHR45739,PANTHER:PTHR45739:SF4 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . CCA . 3992.6 NA NA NA NA NA NA NA NA NA 38692357 CKAP2 26586 . GRCh38 chr13 52474899 52474899 + Frame_Shift_Del DEL A A - rs752250702 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1817del p.Lys606ArgfsTer14 p.K606Rfs*14 ENST00000378037 9/9 NA NA NA NA NA NA CKAP2,frameshift_variant,p.Lys606ArgfsTer14,ENST00000378037,NM_001098525.2;CKAP2,frameshift_variant,p.Lys605ArgfsTer14,ENST00000258607,NM_018204.5;CKAP2,frameshift_variant,p.Lys557ArgfsTer14,ENST00000490903,NM_001286686.1;CKAP2,non_coding_transcript_exon_variant,,ENST00000459902,; - ENSG00000136108 ENST00000378037 Transcript frameshift_variant 1900/3629 1810/2052 604/683 K/X Aaa/aa rs752250702 1 NA 1 CKAP2 HGNC HGNC:1990 protein_coding YES CCDS41893.1 ENSP00000367276 Q8WWK9.144 UPI000006DA2D NM_001098525.2 9/9 Pfam:PF15297,PANTHER:PTHR16076 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 7 NA NA . TGAA . 1985.6 0.000105 NA 3.104e-05 NA NA 0.0001471 0.0001476 0.0005225 7.068e-05 52474898 PCDH8 5100 . GRCh38 chr13 52845465 52845465 + Silent SNP C C A novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2799G>T p.Gly933= p.G933= ENST00000377942 2/3 NA NA NA NA NA NA PCDH8,synonymous_variant,p.Gly933=,ENST00000377942,NM_002590.4;PCDH8,synonymous_variant,p.Gly836=,ENST00000338862,NM_032949.3;PCDH8,non_coding_transcript_exon_variant,,ENST00000613548,;,regulatory_region_variant,,ENSR00000272152,; A ENSG00000136099 ENST00000377942 Transcript synonymous_variant 3003/5088 2799/3213 933/1070 G ggG/ggT 1 NA -1 PCDH8 HGNC HGNC:8660 protein_coding YES CCDS9438.1 ENSP00000367177 O95206.169 UPI0000072D47 NM_002590.4 2/3 PANTHER:PTHR24028,PANTHER:PTHR24028:SF46,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . CCC . 3727.6 NA NA NA NA NA NA NA NA NA 52845465 POU4F1 5457 . GRCh38 chr13 78602189 78602203 + In_Frame_Del DEL GCCGCCGCCCGGGCC GCCGCCGCCCGGGCC - rs1273246249 NA HCI-EC-23 NORMAL GCCGCCGCCCGGGCC GCCGCCGCCCGGGCC NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.472_486del p.Gly158_Gly162del p.G158_G162del ENST00000377208 2/2 NA NA NA NA NA NA POU4F1,inframe_deletion,p.Gly158_Gly162del,ENST00000377208,NM_006237.4;OBI1-AS1,intron_variant,,ENST00000430549,;OBI1-AS1,intron_variant,,ENST00000444769,;OBI1-AS1,intron_variant,,ENST00000560209,;OBI1-AS1,intron_variant,,ENST00000560584,;OBI1-AS1,intron_variant,,ENST00000606124,;OBI1-AS1,intron_variant,,ENST00000606376,;OBI1-AS1,intron_variant,,ENST00000606429,;OBI1-AS1,intron_variant,,ENST00000607205,;OBI1-AS1,intron_variant,,ENST00000607220,;OBI1-AS1,intron_variant,,ENST00000607860,;AL445209.1,downstream_gene_variant,,ENST00000607269,;,regulatory_region_variant,,ENSR00000485829,; - ENSG00000152192 ENST00000377208 Transcript inframe_deletion 698-712/4539 472-486/1260 158-162/419 GPGGG/- GGCCCGGGCGGCGGC/- rs1273246249 1 NA -1 POU4F1 HGNC HGNC:9218 protein_coding YES CCDS31996.1 ENSP00000366413 Q01851.188 UPI000013DCAA NM_006237.4 2/2 PANTHER:PTHR11636,PANTHER:PTHR11636:SF42,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 deletion 1 NA NA NA . GGGCCGCCGCCCGGGCCG . 44.28 NA NA NA NA NA NA NA NA NA 78602188 SLITRK5 26050 . GRCh38 chr13 87676245 87676245 + Missense_Mutation SNP G G T NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.857G>T p.Arg286Met p.R286M ENST00000325089 2/2 NA NA NA NA NA NA SLITRK5,missense_variant,p.Arg286Met,ENST00000325089,NM_015567.1;MIR4500HG,upstream_gene_variant,,ENST00000441617,;MIR4500HG,upstream_gene_variant,,ENST00000654568,;MIR4500HG,upstream_gene_variant,,ENST00000656150,;MIR4500HG,upstream_gene_variant,,ENST00000656584,;MIR4500HG,upstream_gene_variant,,ENST00000658012,;MIR4500HG,upstream_gene_variant,,ENST00000658270,;MIR4500HG,upstream_gene_variant,,ENST00000658487,;MIR4500HG,upstream_gene_variant,,ENST00000660424,;MIR4500HG,upstream_gene_variant,,ENST00000667327,;MIR4500HG,upstream_gene_variant,,ENST00000668242,;MIR4500HG,upstream_gene_variant,,ENST00000668555,;MIR4500HG,upstream_gene_variant,,ENST00000668695,; T ENSG00000165300 ENST00000325089 Transcript missense_variant 1076/21103 857/2877 286/958 R/M aGg/aTg COSV100280049 1 NA 1 SLITRK5 HGNC HGNC:20295 protein_coding YES CCDS9465.1 ENSP00000366283 O94991.166 UPI000015F6F7 NM_015567.1 deleterious(0.03) benign(0.119) 2/2 Gene3D:3.80.10.10,PANTHER:PTHR45773,PANTHER:PTHR45773:SF5 NA NA NA NA NA NA NA NA NA 1 NA NA NA NA MODERATE 1 SNV 1 NA 1 NA NA . AGG . 2413.6 NA NA NA NA NA NA NA NA NA 87676245 GPR180 160897 . GRCh38 chr13 94601930 94601930 + Frame_Shift_Del DEL G G - rs772740445 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.9del p.Leu4_?3 p.L4_?3 ENST00000376958 1/9 NA NA NA NA NA NA GPR180,frameshift_variant,p.Leu4_?3,ENST00000376958,NM_180989.6;,regulatory_region_variant,,ENSR00000064600,; - ENSG00000152749 ENST00000376958 Transcript frameshift_variant,start_lost 74/8884 3/1323 1/440 M/X atG/at rs772740445 1 NA 1 GPR180 HGNC HGNC:28899 protein_coding YES CCDS9472.1 ENSP00000366157 Q86V85.117 UPI00001969C8 NM_180989.6 1/9 Cleavage_site_(Signalp):SignalP-noTM NA NA NA NA NA NA NA 0.003374 0.003339 NA NA NA NA HIGH 1 deletion 1 6 NA NA . ATGG . 806.6 7.156e-05 NA 0.0001134 0.0001577 0.0002111 NA 7.635e-05 NA NA 94601929 RNF113B 140432 . GRCh38 chr13 98176555 98176555 + Missense_Mutation SNP G G A rs151316967 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.682C>T p.Arg228Trp p.R228W ENST00000267291 1/2 NA NA NA NA NA NA RNF113B,missense_variant,p.Arg228Trp,ENST00000267291,NM_178861.5;FARP1,intron_variant,,ENST00000319562,NM_005766.4;FARP1,intron_variant,,ENST00000376581,NM_001001715.4;FARP1,intron_variant,,ENST00000595437,NM_001286839.2;FARP1,intron_variant,,ENST00000596580,;FARP1,intron_variant,,ENST00000627049,;FARP1,upstream_gene_variant,,ENST00000598389,;FARP1,intron_variant,,ENST00000600648,; A ENSG00000139797 ENST00000267291 Transcript missense_variant 715/1380 682/969 228/322 R/W Cgg/Tgg rs151316967 1 NA -1 RNF113B HGNC HGNC:17267 protein_coding YES CCDS9486.1 ENSP00000267291 Q8IZP6.142 UPI000006F203 NM_178861.5 deleterious(0) possibly_damaging(0.816) 1/2 PANTHER:PTHR12930:SF1,PANTHER:PTHR12930 NA NA NA NA NA NA NA NA 0.0001163 NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CGT . 5556.6 NA NA NA NA NA NA NA NA NA 98176555 MYO16 23026 . GRCh38 chr13 108823166 108823166 + Missense_Mutation SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.985G>A p.Ala329Thr p.A329T ENST00000457511 9/35 NA NA NA NA NA NA MYO16,missense_variant,p.Ala329Thr,ENST00000457511,NM_001198950.3;MYO16,missense_variant,p.Ala307Thr,ENST00000356711,NM_015011.3;MYO16,missense_variant,p.Ala307Thr,ENST00000251041,;MYO16,non_coding_transcript_exon_variant,,ENST00000375857,; A ENSG00000041515 ENST00000457511 Transcript missense_variant 1219/7046 985/5643 329/1880 A/T Gcc/Acc 1 NA 1 MYO16 HGNC HGNC:29822 protein_coding YES CCDS73598.1 ENSP00000401633 F8W883.80 UPI00002375AE NM_001198950.3 deleterious(0) probably_damaging(0.944) 9/35 Gene3D:1.25.40.20,PANTHER:PTHR47335 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . AGC . 590.6 NA NA NA NA NA NA NA NA NA 108823166 MYO16 23026 . GRCh38 chr13 109120418 109120418 + Missense_Mutation SNP A A G novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3487A>G p.Asn1163Asp p.N1163D ENST00000457511 29/35 NA NA NA NA NA NA MYO16,missense_variant,p.Asn1163Asp,ENST00000457511,NM_001198950.3;MYO16,missense_variant,p.Asn1141Asp,ENST00000356711,NM_015011.3; G ENSG00000041515 ENST00000457511 Transcript missense_variant 3721/7046 3487/5643 1163/1880 N/D Aat/Gat 1 NA 1 MYO16 HGNC HGNC:29822 protein_coding YES CCDS73598.1 ENSP00000401633 F8W883.80 UPI00002375AE NM_001198950.3 tolerated(0.13) benign(0.272) 29/35 Gene3D:3.30.70.3240,PROSITE_profiles:PS51456,PANTHER:PTHR47335,SMART:SM00242,Superfamily:SSF52540 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CAA . 3058.6 NA NA NA NA NA NA NA NA NA 109120418 RAB20 55647 . GRCh38 chr13 110523670 110523670 + Missense_Mutation SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.700G>A p.Ala234Thr p.A234T ENST00000267328 2/2 NA NA NA NA NA NA RAB20,missense_variant,p.Ala234Thr,ENST00000267328,NM_017817.3; T ENSG00000139832 ENST00000267328 Transcript missense_variant 903/1507 700/705 234/234 A/T Gcc/Acc 1 NA -1 RAB20 HGNC HGNC:18260 protein_coding YES CCDS9512.1 ENSP00000267328 Q9NX57.168 UPI0000001299 NM_017817.3 deleterious_low_confidence(0.01) benign(0.007) 2/2 MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . GCA . 2736.6 NA NA NA NA NA NA NA NA NA 110523670 ING1 3621 . GRCh38 chr13 110719678 110719678 + Nonsense_Mutation SNP C C T NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1015C>T p.Arg339Ter p.R339* ENST00000375774 2/2 NA NA NA NA NA NA ING1,stop_gained,p.Arg196Ter,ENST00000333219,NM_198219.3;ING1,stop_gained,p.Arg339Ter,ENST00000375774,NM_005537.5;ING1,stop_gained,p.Arg152Ter,ENST00000338450,NM_198217.2;ING1,stop_gained,p.Arg127Ter,ENST00000375775,NM_198218.2;ING1,downstream_gene_variant,,ENST00000464141,NM_001267728.1; T ENSG00000153487 ENST00000375774 Transcript stop_gained 1477/2870 1015/1269 339/422 R/* Cga/Tga COSV58167363 1 NA 1 ING1 HGNC HGNC:6062 protein_coding YES CCDS9517.1 ENSP00000364929 A0A0C4DFW2.50 UPI0000073926 NM_005537.5 2/2 Low_complexity_(Seg):seg,MobiDB_lite:mobidb-lite,PANTHER:PTHR10333,PANTHER:PTHR10333:SF85,Superfamily:SSF57903 NA NA NA NA NA NA NA NA NA 1 NA NA NA NA HIGH 1 SNV 1 NA 1 NA 1 . GCG . 8556.6 NA NA NA NA NA NA NA NA NA 110719678 ATP11A 23250 . GRCh38 chr13 112873642 112873642 + Missense_Mutation SNP G G A rs748736508 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3127G>A p.Val1043Ile p.V1043I ENST00000375630 27/29 NA NA NA NA NA NA ATP11A,missense_variant,p.Val1043Ile,ENST00000487903,;ATP11A,missense_variant,p.Val1043Ile,ENST00000375645,NM_015205.2;ATP11A,missense_variant,p.Val1043Ile,ENST00000375630,NM_032189.3;ATP11A,missense_variant,p.Val35Ile,ENST00000419631,;ATP11A,upstream_gene_variant,,ENST00000415301,;ATP11A,3_prime_UTR_variant,,ENST00000471555,;ATP11A,non_coding_transcript_exon_variant,,ENST00000493489,;ATP11A,non_coding_transcript_exon_variant,,ENST00000495930,; A ENSG00000068650 ENST00000375630 Transcript missense_variant 3215/8768 3127/3576 1043/1191 V/I Gtt/Att rs748736508 1 NA 1 ATP11A HGNC HGNC:13552 protein_coding YES ENSP00000364781 E9PEJ6.79 UPI000041C744 NM_032189.3 tolerated(0.47) benign(0) 27/29 Transmembrane_helices:TMhelix,PANTHER:PTHR24092,PANTHER:PTHR24092:SF33,TIGRFAM:TIGR01652,Pfam:PF16212,Superfamily:SSF81665 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA 1 . CGT . 1295.6 5.573e-05 NA 0.0002027 NA NA 9.259e-05 3.519e-05 NA 3.27e-05 112873642 ADPRHL1 113622 . GRCh38 chr13 113403397 113403397 + Missense_Mutation SNP G G A rs9603837 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.5885C>T p.Thr1962Met p.T1962M ENST00000612156 8/8 NA NA NA NA NA NA ADPRHL1,missense_variant,p.Thr1962Met,ENST00000612156,; A ENSG00000153531 ENST00000612156 Transcript missense_variant 5972/9759 5885/5904 1962/1967 T/M aCg/aTg rs9603837,COSV67694110 1 NA -1 ADPRHL1 HGNC HGNC:21303 protein_coding YES ENSP00000489048 A0A0U1RQK4.17 UPI000719A14C deleterious_low_confidence(0) unknown(0) 8/8 0.5445 0.8759 0.5245 NA 0.1865 0.5974 0.4254 NA NA 0,1 NA NA NA NA MODERATE 1 SNV 5 NA 0,1 NA NA . CGT . 1995.6 NA NA NA NA NA NA NA NA NA 113403397 ADPRHL1 113622 . GRCh38 chr13 113403750 113403750 + Missense_Mutation SNP C C A novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.5532G>T p.Arg1844Ser p.R1844S ENST00000612156 8/8 NA NA NA NA NA NA ADPRHL1,missense_variant,p.Arg1844Ser,ENST00000612156,; A ENSG00000153531 ENST00000612156 Transcript missense_variant 5619/9759 5532/5904 1844/1967 R/S agG/agT 1 NA -1 ADPRHL1 HGNC HGNC:21303 protein_coding YES ENSP00000489048 A0A0U1RQK4.17 UPI000719A14C tolerated_low_confidence(0.31) unknown(0) 8/8 MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . CCC . 697.6 NA NA NA NA NA NA NA NA NA 113403750 ADPRHL1 113622 . GRCh38 chr13 113404569 113404569 + Silent SNP T T C rs7334623 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4713A>G p.Pro1571= p.P1571= ENST00000612156 8/8 NA NA NA NA NA NA ADPRHL1,synonymous_variant,p.Pro1571=,ENST00000612156,; C ENSG00000153531 ENST00000612156 Transcript synonymous_variant 4800/9759 4713/5904 1571/1967 P ccA/ccG rs7334623 1 NA -1 ADPRHL1 HGNC HGNC:21303 protein_coding YES ENSP00000489048 A0A0U1RQK4.17 UPI000719A14C 8/8 MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA 0.8828 0.5259 NA 0.1657 0.5974 0.4959 NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . CTG . 2698.6 NA NA NA NA NA NA NA NA NA 113404569 ADPRHL1 113622 . GRCh38 chr13 113406670 113406671 + In_Frame_Ins INS - - AAG rs35896628 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2609_2611dup p.Pro870_Cys871insSer p.P870_C871insS ENST00000612156 8/8 NA NA NA NA NA NA ADPRHL1,inframe_insertion,p.Pro870_Cys871insSer,ENST00000612156,; AAG ENSG00000153531 ENST00000612156 Transcript inframe_insertion 2698-2699/9759 2611-2612/5904 871/1967 C/SC tgt/tCTTgt rs35896628 1 NA -1 ADPRHL1 HGNC HGNC:21303 protein_coding YES ENSP00000489048 A0A0U1RQK4.17 UPI000719A14C 8/8 NA 0.879 0.5245 NA 0.1667 0.5964 0.4969 NA NA NA NA NA NA MODERATE 1 insertion 5 NA NA NA . ACA . 6850.64 NA NA NA NA NA NA NA NA NA 113406670 ADPRHL1 113622 . GRCh38 chr13 113425053 113425053 + Frame_Shift_Del DEL T T - novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.773del p.Lys258ArgfsTer21 p.K258Rfs*21 ENST00000612156 5/8 NA NA NA NA NA NA ADPRHL1,frameshift_variant,p.Lys258ArgfsTer21,ENST00000612156,;ADPRHL1,frameshift_variant,p.Lys176ArgfsTer21,ENST00000356501,NM_199162.3;ADPRHL1,frameshift_variant,p.Lys258ArgfsTer21,ENST00000375418,NM_138430.5;ADPRHL1,frameshift_variant,p.Lys176del,ENST00000413169,; - ENSG00000153531 ENST00000612156 Transcript frameshift_variant,splice_region_variant 860/9759 773/5904 258/1967 K/X aAg/ag 1 NA -1 ADPRHL1 HGNC HGNC:21303 protein_coding YES ENSP00000489048 A0A0U1RQK4.17 UPI000719A14C 5/8 Gene3D:1.10.4080.10,Pfam:PF03747,PANTHER:PTHR16222,PANTHER:PTHR16222:SF23,Superfamily:SSF101478 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 5 NA NA NA . CCTT . 2563.6 NA NA NA NA NA NA NA NA NA 113425052 OR11H2 0 . GRCh38 chr14 19713048 19713048 + Missense_Mutation SNP G G C rs780444058 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.869C>G p.Thr290Ser p.T290S ENST00000641517 2/2 NA NA NA NA NA NA OR11H2,missense_variant,p.Thr290Ser,ENST00000641517,NM_001197287.1;OR11H2,missense_variant,p.Thr279Ser,ENST00000556246,; C ENSG00000258453 ENST00000641517 Transcript missense_variant 941/1085 869/981 290/326 T/S aCt/aGt rs780444058 1 NA -1 OR11H2 HGNC HGNC:14716 protein_coding YES CCDS76655.1 ENSP00000492923 Q8NH07.131 UPI0000061EAC NM_001197287.1 deleterious(0.02) probably_damaging(0.951) 2/2 Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,CDD:cd15913,PANTHER:PTHR24242,PANTHER:PTHR24242:SF201,Pfam:PF13853,Gene3D:1.20.1070.10,Superfamily:SSF81321,Prints:PR00237 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV NA NA NA NA . AGT . 4225.6 9.106e-06 NA NA NA NA NA 2.009e-05 NA NA 19713048 OR4N2 390429 . GRCh38 chr14 19827647 19827647 + Missense_Mutation SNP G G A rs1477001355 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.199G>A p.Ala67Thr p.A67T ENST00000641240 2/2 NA NA NA NA NA NA OR4N2,missense_variant,p.Ala67Thr,ENST00000641240,;OR4N2,missense_variant,p.Ala67Thr,ENST00000557677,NM_001004723.3;OR4N2,missense_variant,p.Ala67Thr,ENST00000315947,;OR4N2,downstream_gene_variant,,ENST00000557414,;,regulatory_region_variant,,ENSR00000273566,; A ENSG00000176294 ENST00000641240 Transcript missense_variant 725/3331 199/924 67/307 A/T Gcc/Acc rs1477001355 1 NA 1 OR4N2 HGNC HGNC:14742 protein_coding YES CCDS32022.1 ENSP00000493327 Q8NGD1.137 A0A126GVT2.31 UPI000004A5DF deleterious(0) possibly_damaging(0.493) 2/2 Gene3D:1.20.1070.10,Pfam:PF13853,Prints:PR00237,PROSITE_profiles:PS50262,PANTHER:PTHR26453,PANTHER:PTHR26453:SF634,Superfamily:SSF81321,Transmembrane_helices:TMhelix,CDD:cd15937 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV NA NA NA NA . GGC . 3387.6 3.984e-06 NA 2.895e-05 NA NA NA NA NA NA 19827647 OR4K3 0 . GRCh38 chr14 19868522 19868523 + Frame_Shift_Ins INS - - G rs5807006 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.621dup p.Trp208LeufsTer109 p.W208Lfs*109 ENST00000425829 1/1 NA NA NA NA NA NA OR4K3,frameshift_variant,p.Trp208LeufsTer109,ENST00000425829,NM_001348266.2; G ENSG00000176290 ENST00000425829 Transcript frameshift_variant 621-622/947 621-622/947 207-208/315 -/X -/C rs5807006 1 NA -1 OR4K3 HGNC HGNC:14731 polymorphic_pseudogene YES ENSP00000493291 NM_001348266.2 1/1 NA 0.528 0.6124 NA 0.4484 0.7724 0.7403 NA NA NA NA NA NA HIGH 1 insertion NA NA NA NA . CAG . 13373.64 NA NA NA NA NA NA NA NA NA 19868522 OR11G2 390439 . GRCh38 chr14 20198016 20198017 + Frame_Shift_Ins INS - - A rs55781225 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.687dup p.Gly230ArgfsTer74 p.G230Rfs*74 ENST00000357366 1/1 NA NA NA NA NA NA OR11G2,frameshift_variant,p.Gly196ArgfsTer74,ENST00000641879,;OR11G2,frameshift_variant,p.Gly196ArgfsTer74,ENST00000641682,;OR11G2,frameshift_variant,p.Gly230ArgfsTer74,ENST00000357366,NM_001005503.1;,regulatory_region_variant,,ENSR00000982592,; A ENSG00000196832 ENST00000357366 Transcript frameshift_variant 681-682/1038 681-682/1038 227-228/345 -/X -/A rs55781225 1 NA 1 OR11G2 HGNC HGNC:15346 protein_coding YES CCDS32032.1 ENSP00000349930 Q8NGC1.138 UPI000015F241 NM_001005503.1 1/1 PROSITE_profiles:PS50262,CDD:cd15913,PANTHER:PTHR24242,PANTHER:PTHR24242:SF364,Pfam:PF13853,Gene3D:1.20.1070.10,Superfamily:SSF81321,Prints:PR00245 NA NA NA NA NA NA NA 0.6684 0.7083 NA NA NA NA HIGH 1 insertion NA 6 NA NA . GCA . 3766.64 NA NA NA NA NA NA NA NA NA 20198016 OR11H7 0 . GRCh38 chr14 20229895 20229895 + Missense_Mutation SNP A A C novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.494A>C p.Gln165Pro p.Q165P ENST00000553765 1/1 NA NA NA NA NA NA OR11H7,missense_variant,p.Gln165Pro,ENST00000553765,; C ENSG00000258806 ENST00000553765 Transcript missense_variant 494/945 494/945 165/314 Q/P cAa/cCa 1 NA 1 OR11H7 HGNC HGNC:15350 polymorphic_pseudogene YES CCDS86368.1 ENSP00000451021 deleterious(0) probably_damaging(0.974) 1/1 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV NA NA NA NA . CAA . 266.6 NA NA NA NA NA NA NA NA NA 20229895 OR11H7 0 . GRCh38 chr14 20229896 20229896 + Missense_Mutation SNP A A C novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.495A>C p.Gln165His p.Q165H ENST00000553765 1/1 NA NA NA NA NA NA OR11H7,missense_variant,p.Gln165His,ENST00000553765,; C ENSG00000258806 ENST00000553765 Transcript missense_variant 495/945 495/945 165/314 Q/H caA/caC 1 NA 1 OR11H7 HGNC HGNC:15350 polymorphic_pseudogene YES CCDS86368.1 ENSP00000451021 deleterious(0.02) benign(0.246) 1/1 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV NA NA NA NA . AAC . 266.6 NA NA NA NA NA NA NA NA NA 20229896 CHD8 57680 . GRCh38 chr14 21394291 21394291 + Frame_Shift_Del DEL G G - novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.5585del p.Pro1862GlnfsTer29 p.P1862Qfs*29 ENST00000646647 31/38 NA NA NA NA NA NA CHD8,frameshift_variant,p.Pro1862GlnfsTer29,ENST00000646647,NM_001170629.2;CHD8,frameshift_variant,p.Pro1862GlnfsTer29,ENST00000643469,;CHD8,frameshift_variant,p.Pro1862GlnfsTer29,ENST00000557364,;CHD8,frameshift_variant,p.Pro1583GlnfsTer29,ENST00000430710,NM_020920.4;CHD8,frameshift_variant,p.Pro1583GlnfsTer29,ENST00000645929,;CHD8,frameshift_variant,p.Pro1864GlnfsTer29,ENST00000646340,;CHD8,frameshift_variant,p.Pro1096GlnfsTer29,ENST00000555935,;CHD8,upstream_gene_variant,,ENST00000553870,;SNORD9,upstream_gene_variant,,ENST00000362566,;SNORD8,downstream_gene_variant,,ENST00000363915,;CHD8,non_coding_transcript_exon_variant,,ENST00000645206,;CHD8,non_coding_transcript_exon_variant,,ENST00000555301,;CHD8,non_coding_transcript_exon_variant,,ENST00000557329,;CHD8,downstream_gene_variant,,ENST00000555962,;CHD8,downstream_gene_variant,,ENST00000646558,;AL161747.1,upstream_gene_variant,,ENST00000480068,; - ENSG00000100888 ENST00000646647 Transcript frameshift_variant 5892/8467 5585/7746 1862/2581 P/X cCa/ca 1 NA -1 CHD8 HGNC HGNC:20153 protein_coding YES CCDS53885.1 ENSP00000495240 Q9HCK8.192 UPI00002375B9 NM_001170629.2 31/38 HAMAP:MF_03071,PANTHER:PTHR45623,PANTHER:PTHR45623:SF3 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion NA NA NA 1 . CTGG . 25352.6 NA NA NA NA NA NA NA NA NA 21394290 OR10G2 26534 . GRCh38 chr14 21634137 21634137 + Missense_Mutation SNP T T C rs41307110 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.706A>G p.Thr236Ala p.T236A ENST00000542433 1/1 NA NA NA NA NA NA OR10G2,missense_variant,p.Thr236Ala,ENST00000542433,NM_001005466.2; C ENSG00000255582 ENST00000542433 Transcript missense_variant 804/1105 706/933 236/310 T/A Act/Gct rs41307110 1 NA -1 OR10G2 HGNC HGNC:8170 protein_coding YES CCDS32047.1 ENSP00000445383 Q8NGC3.134 UPI000443803E NM_001005466.2 tolerated(1) benign(0) 1/1 Gene3D:1.20.1070.10,Pfam:PF13853,PROSITE_profiles:PS50262,PANTHER:PTHR26453,PANTHER:PTHR26453:SF88,Superfamily:SSF81321,CDD:cd15916 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV NA NA NA NA . GTG . 9322.03 NA NA NA NA NA NA NA NA NA 21634137 OR10G2 26534 . GRCh38 chr14 21634162 21634162 + Silent SNP T T G rs201949084 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.681A>C p.Val227= p.V227= ENST00000542433 1/1 NA NA NA NA NA NA OR10G2,synonymous_variant,p.Val227=,ENST00000542433,NM_001005466.2; G ENSG00000255582 ENST00000542433 Transcript synonymous_variant 779/1105 681/933 227/310 V gtA/gtC rs201949084 1 NA -1 OR10G2 HGNC HGNC:8170 protein_coding YES CCDS32047.1 ENSP00000445383 Q8NGC3.134 UPI000443803E NM_001005466.2 1/1 Gene3D:1.20.1070.10,Pfam:PF13853,PROSITE_profiles:PS50262,PANTHER:PTHR26453,PANTHER:PTHR26453:SF88,Superfamily:SSF81321,Transmembrane_helices:TMhelix,CDD:cd15916 NA 0.9834 0.9798 NA 0.9444 0.9761 0.9714 NA NA NA NA NA NA LOW 1 SNV NA NA NA NA . TTA . 12649.03 NA NA NA NA NA NA NA NA NA 21634162 OR10G2 26534 . GRCh38 chr14 21634283 21634283 + Missense_Mutation SNP G G C rs35963889 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.560C>G p.Pro187Arg p.P187R ENST00000542433 1/1 NA NA NA NA NA NA OR10G2,missense_variant,p.Pro187Arg,ENST00000542433,NM_001005466.2; C ENSG00000255582 ENST00000542433 Transcript missense_variant 658/1105 560/933 187/310 P/R cCc/cGc rs35963889 1 NA -1 OR10G2 HGNC HGNC:8170 protein_coding YES CCDS32047.1 ENSP00000445383 Q8NGC3.134 UPI000443803E NM_001005466.2 deleterious(0.01) probably_damaging(1) 1/1 Gene3D:1.20.1070.10,Pfam:PF13853,Prints:PR00245,PROSITE_profiles:PS50262,PANTHER:PTHR26453,PANTHER:PTHR26453:SF88,Superfamily:SSF81321,CDD:cd15916 NA 0.5318 0.7363 NA 0.506 0.7306 0.6564 NA NA NA NA NA NA MODERATE 1 SNV NA NA NA NA . GGG . 10213.03 NA NA NA NA NA NA NA NA NA 21634283 OR10G2 26534 . GRCh38 chr14 21634589 21634589 + Missense_Mutation SNP A A C rs41314525 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.254T>G p.Leu85Arg p.L85R ENST00000542433 1/1 NA NA NA NA NA NA OR10G2,missense_variant,p.Leu85Arg,ENST00000542433,NM_001005466.2; C ENSG00000255582 ENST00000542433 Transcript missense_variant 352/1105 254/933 85/310 L/R cTg/cGg rs41314525 1 NA -1 OR10G2 HGNC HGNC:8170 protein_coding YES CCDS32047.1 ENSP00000445383 Q8NGC3.134 UPI000443803E NM_001005466.2 tolerated(0.16) benign(0) 1/1 Gene3D:1.20.1070.10,Pfam:PF13853,PROSITE_profiles:PS50262,PANTHER:PTHR26453,PANTHER:PTHR26453:SF88,Superfamily:SSF81321,Transmembrane_helices:TMhelix,CDD:cd15916 NA 0.7254 0.8141 NA 0.7192 0.8052 0.7935 NA NA 31511551 NA NA NA NA MODERATE 1 SNV NA NA NA NA . CAG . 7016.03 NA NA NA NA NA NA NA NA NA 21634589 TRAV9-2 0 . GRCh38 chr14 21941448 21941448 + Silent SNP G G A rs369545967 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.129G>A p.Thr43= p.T43= ENST00000390441 2/2 NA NA NA NA NA NA TRAV9-2,synonymous_variant,p.Thr43=,ENST00000390441,;,regulatory_region_variant,,ENSR00000273668,;,regulatory_region_variant,,ENSR00000982767,; A ENSG00000211793 ENST00000390441 Transcript synonymous_variant 185/394 129/338 43/112 T acG/acA rs369545967 1 NA 1 TRAV9-2 HGNC HGNC:12154 TR_V_gene YES ENSP00000452011 A0A087WT02.30 UPI0004620C00 2/2 NA NA NA NA NA NA NA NA 0.000121 NA NA NA NA LOW 1 SNV NA NA NA NA . CGT . 2682.6 1.284e-05 NA NA 0.0001004 NA NA 9.198e-06 NA 3.274e-05 21941448 TRAV16 0 . GRCh38 chr14 21990769 21990769 + Missense_Mutation SNP T T C novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.160T>C p.Trp54Arg p.W54R ENST00000390444 2/2 NA NA NA NA NA NA TRAV16,missense_variant,p.Trp54Arg,ENST00000390444,;,regulatory_region_variant,,ENSR00000273671,;,regulatory_region_variant,,ENSR00000492263,;,TF_binding_site_variant,,ENSM00205714890,; C ENSG00000211796 ENST00000390444 Transcript missense_variant 160/329 160/329 54/109 W/R Tgg/Cgg 1 NA 1 TRAV16 HGNC HGNC:12112 TR_V_gene YES ENSP00000451359 A0A0A6YYK6.35 UPI0003F47D1A deleterious(0) probably_damaging(0.999) 2/2 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV NA NA NA NA . CTG . 2237.6 NA NA NA NA NA NA NA NA NA 21990769 CDH24 64403 . GRCh38 chr14 23048305 23048305 + Frame_Shift_Del DEL G G - rs752398646 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2135del p.Pro712ArgfsTer129 p.P712Rfs*129 ENST00000397359 13/14 NA NA NA NA NA NA CDH24,frameshift_variant,p.Pro712ArgfsTer129,ENST00000397359,NM_022478.3;CDH24,frameshift_variant,p.Pro674ArgfsTer129,ENST00000487137,NM_144985.3;CDH24,frameshift_variant,p.Pro712ArgfsTer129,ENST00000267383,;CDH24,frameshift_variant,p.Pro674ArgfsTer129,ENST00000554034,;CDH24,frameshift_variant,p.Pro207ArgfsTer129,ENST00000610348,;PSMB11,downstream_gene_variant,,ENST00000408907,NM_001099780.2;CDH24,non_coding_transcript_exon_variant,,ENST00000485922,; - ENSG00000139880 ENST00000397359 Transcript frameshift_variant 2395/3552 2135/2460 712/819 P/X cCg/cg rs752398646 1 NA -1 CDH24 HGNC HGNC:14265 protein_coding YES CCDS9585.1 ENSP00000380517 Q86UP0.150 UPI0000190F86 NM_022478.3 13/14 Pfam:PF01049,PANTHER:PTHR24027,PANTHER:PTHR24027:SF272,Low_complexity_(Seg):seg NA NA NA NA NA NA NA 0.006101 0.005969 NA NA NA NA HIGH 1 deletion 5 NA NA NA . CCGG . 3382.6 0.000119 0.0001664 6.369e-05 0.0001086 NA 0.0001064 9.245e-05 NA 0.0003506 23048304 ZFHX2 85446 . GRCh38 chr14 23524034 23524034 + Missense_Mutation SNP T T C novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.5908A>G p.Thr1970Ala p.T1970A ENST00000419474 9/10 NA NA NA NA NA NA ZFHX2,missense_variant,p.Thr1970Ala,ENST00000419474,NM_033400.3;ZFHX2-AS1,intron_variant,,ENST00000553985,;ZFHX2-AS1,intron_variant,,ENST00000556354,;ZFHX2,upstream_gene_variant,,ENST00000606808,;ZFHX2-AS1,intron_variant,,ENST00000554403,; C ENSG00000136367 ENST00000419474 Transcript missense_variant 6380/9296 5908/7719 1970/2572 T/A Act/Gct 1 NA -1 ZFHX2 HGNC HGNC:20152 protein_coding YES CCDS55907.1 ENSP00000413418 Q9C0A1.159 A0A2P1H683.16 UPI000198D01B NM_033400.3 tolerated_low_confidence(0.55) benign(0) 9/10 PANTHER:PTHR45891,PANTHER:PTHR45891:SF1 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE NA SNV 5 NA NA 1 . GTG . 1210.6 NA NA NA NA NA NA NA NA NA 23524034 DHRS4 10901 . GRCh38 chr14 23955142 23955142 + Missense_Mutation SNP A A G novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.236A>G p.Glu79Gly p.E79G ENST00000313250 2/8 NA NA NA NA NA NA DHRS4,missense_variant,p.Glu79Gly,ENST00000543741,;DHRS4,missense_variant,p.Glu79Gly,ENST00000313250,NM_021004.4;DHRS4,missense_variant,p.Glu79Gly,ENST00000558581,NM_001282988.2;DHRS4,missense_variant,p.Glu79Gly,ENST00000558263,NM_001282987.2;DHRS4,missense_variant,p.Glu79Gly,ENST00000559632,NM_001282990.2;DHRS4,missense_variant,p.Glu79Gly,ENST00000397074,NM_001282991.2;DHRS4,missense_variant,p.Glu79Gly,ENST00000397075,NM_001282989.2;DHRS4-AS1,intron_variant,,ENST00000558423,;DHRS4-AS1,intron_variant,,ENST00000654375,;DHRS4-AS1,intron_variant,,ENST00000656462,;DHRS4-AS1,intron_variant,,ENST00000671464,;DHRS4-AS1,upstream_gene_variant,,ENST00000399886,;DHRS4-AS1,upstream_gene_variant,,ENST00000553454,;DHRS4-AS1,upstream_gene_variant,,ENST00000554036,;DHRS4-AS1,upstream_gene_variant,,ENST00000555045,;DHRS4-AS1,upstream_gene_variant,,ENST00000556379,;DHRS4-AS1,upstream_gene_variant,,ENST00000656761,;DHRS4-AS1,upstream_gene_variant,,ENST00000660207,;DHRS4-AS1,upstream_gene_variant,,ENST00000666884,;DHRS4-AS1,upstream_gene_variant,,ENST00000667602,;DHRS4-AS1,upstream_gene_variant,,ENST00000671346,;DHRS4-AS1,upstream_gene_variant,,ENST00000671411,;DHRS4-AS1,upstream_gene_variant,,ENST00000671431,; G ENSG00000157326 ENST00000313250 Transcript missense_variant 255/1264 236/837 79/278 E/G gAg/gGg 1 NA 1 DHRS4 HGNC HGNC:16985 protein_coding YES CCDS9605.1 ENSP00000326219 Q9BTZ2.171 UPI000003F541 NM_021004.4 deleterious(0) possibly_damaging(0.888) 2/8 PDB-ENSP_mappings:3o4r.A,PDB-ENSP_mappings:3o4r.B,PDB-ENSP_mappings:3o4r.C,PDB-ENSP_mappings:3o4r.D,CDD:cd08936,PANTHER:PTHR43943:SF8,PANTHER:PTHR43943,Gene3D:3.40.50.720,Pfam:PF13561,Superfamily:SSF51735 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . GAG . 4540.04 NA NA NA NA NA NA NA NA NA 23955142 NOP9 161424 . GRCh38 chr14 24300643 24300644 + In_Frame_Ins INS - - GAG rs71119069 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.507_509dup p.Glu169dup p.E169dup ENST00000267425 2/10 NA NA NA NA NA NA NOP9,inframe_insertion,p.Glu169dup,ENST00000267425,NM_174913.3;NOP9,inframe_insertion,p.Glu169dup,ENST00000396802,NM_001286367.2;CIDEB,downstream_gene_variant,,ENST00000258807,NM_014430.3;DHRS1,upstream_gene_variant,,ENST00000288111,NM_001136050.3;CIDEB,downstream_gene_variant,,ENST00000336557,NM_001318807.2;DHRS1,upstream_gene_variant,,ENST00000396813,NM_138452.2;CIDEB,downstream_gene_variant,,ENST00000554411,;CIDEB,downstream_gene_variant,,ENST00000556756,;NOP9,upstream_gene_variant,,ENST00000557362,;AL096870.12,downstream_gene_variant,,ENST00000669726,;DHRS1,upstream_gene_variant,,ENST00000559483,;DHRS1,upstream_gene_variant,,ENST00000558114,;DHRS1,upstream_gene_variant,,ENST00000558340,;DHRS1,upstream_gene_variant,,ENST00000560991,;DHRS1,upstream_gene_variant,,ENST00000561273,;NOP9,upstream_gene_variant,,ENST00000650565,;,regulatory_region_variant,,ENSR00000066854,; GAG ENSG00000196943 ENST00000267425 Transcript inframe_insertion 588-589/6045 483-484/1911 161-162/636 -/E -/GAG rs71119069 1 NA 1 NOP9 HGNC HGNC:19826 protein_coding YES CCDS9624.1 ENSP00000267425 Q86U38.140 UPI000000CBCF NM_174913.3 2/10 Gene3D:1.25.10.10,PANTHER:PTHR13102,Superfamily:SSF48371 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 insertion 1 26 NA NA . CAG . 4105.64 NA NA NA NA NA NA NA NA NA 24300643 NFATC4 4776 . GRCh38 chr14 24369522 24369522 + Missense_Mutation SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.313C>T p.Pro105Ser p.P105S ENST00000413692 3/10 NA NA NA NA NA NA NFATC4,missense_variant,p.Pro105Ser,ENST00000413692,NM_001136022.2;NFATC4,missense_variant,p.Pro74Ser,ENST00000539237,;NFATC4,missense_variant,p.Pro30Ser,ENST00000422617,NM_001288802.2;NFATC4,missense_variant,p.Pro55Ser,ENST00000424781,;NFATC4,missense_variant,p.Pro42Ser,ENST00000553708,;NFATC4,missense_variant,p.Pro42Ser,ENST00000250373,NM_004554.5;NFATC4,missense_variant,p.Pro30Ser,ENST00000555453,NM_001363681.1;NFATC4,missense_variant,p.Pro42Ser,ENST00000554050,NM_001198965.2;NFATC4,missense_variant,p.Pro74Ser,ENST00000556279,;NFATC4,missense_variant,p.Pro105Ser,ENST00000554591,NM_001320043.1,NM_001198967.2;NFATC4,missense_variant,p.Pro55Ser,ENST00000555590,;NFATC4,missense_variant,p.Pro74Ser,ENST00000553469,;NFATC4,missense_variant,p.Pro30Ser,ENST00000556169,NM_001363682.1;NFATC4,missense_variant,p.Pro55Ser,ENST00000554966,;NFATC4,missense_variant,p.Pro19Ser,ENST00000557674,;NFATC4,missense_variant,p.Pro42Ser,ENST00000554779,;NFATC4,missense_variant,p.Pro42Ser,ENST00000554903,;NFATC4,5_prime_UTR_variant,,ENST00000557451,;NFATC4,5_prime_UTR_variant,,ENST00000554344,;NFATC4,5_prime_UTR_variant,,ENST00000553879,NM_001198966.2;NFATC4,5_prime_UTR_variant,,ENST00000554661,;NFATC4,upstream_gene_variant,,ENST00000554473,;NFATC4,upstream_gene_variant,,ENST00000555167,;NFATC4,upstream_gene_variant,,ENST00000555393,;NFATC4,upstream_gene_variant,,ENST00000555802,;NFATC4,upstream_gene_variant,,ENST00000556759,;NFATC4,upstream_gene_variant,,ENST00000557767,;NFATC4,non_coding_transcript_exon_variant,,ENST00000440487,;NFATC4,non_coding_transcript_exon_variant,,ENST00000554655,;NFATC4,non_coding_transcript_exon_variant,,ENST00000556302,;NFATC4,non_coding_transcript_exon_variant,,ENST00000556957,;NFATC4,non_coding_transcript_exon_variant,,ENST00000557028,;,regulatory_region_variant,,ENSR00000066869,; T ENSG00000100968 ENST00000413692 Transcript missense_variant 457/5700 313/2895 105/964 P/S Cca/Tca 1 NA 1 NFATC4 HGNC HGNC:7778 protein_coding YES CCDS45089.1 ENSP00000388910 Q14934.181 UPI00017BD050 NM_001136022.2 tolerated(1) benign(0) 3/10 PANTHER:PTHR12533,PANTHER:PTHR12533:SF11,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . GCC . 2519.6 NA NA NA NA NA NA NA NA NA 24369522 STRN3 29966 . GRCh38 chr14 31025929 31025929 + Nonsense_Mutation SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.257G>A p.Trp86Ter p.W86* ENST00000357479 1/18 NA NA NA NA NA NA STRN3,stop_gained,p.Trp86Ter,ENST00000357479,NM_001083893.2;STRN3,stop_gained,p.Trp86Ter,ENST00000355683,NM_014574.4;AP4S1,intron_variant,,ENST00000216366,NM_007077.4;AP4S1,intron_variant,,ENST00000313566,;AP4S1,intron_variant,,ENST00000334725,NM_001254727.1;AP4S1,intron_variant,,ENST00000542754,NM_001128126.3;AP4S1,intron_variant,,ENST00000554345,NM_001254726.1;AP4S1,intron_variant,,ENST00000554609,;AP4S1,intron_variant,,ENST00000556232,;AP4S1,intron_variant,,ENST00000557346,;AP4S1,intron_variant,,ENST00000622409,NM_001254729.1;AP4S1,intron_variant,,ENST00000673317,;AP4S1,upstream_gene_variant,,ENST00000555417,;AP4S1,upstream_gene_variant,,ENST00000616371,NM_001254728.1;STRN3,stop_gained,p.Trp86Ter,ENST00000555358,;AP4S1,intron_variant,,ENST00000672143,;AP4S1,intron_variant,,ENST00000673001,;,regulatory_region_variant,,ENSR00000067178,; T ENSG00000196792 ENST00000357479 Transcript stop_gained 451/4195 257/2394 86/797 W/* tGg/tAg 1 NA -1 STRN3 HGNC HGNC:15720 protein_coding YES CCDS41938.1 ENSP00000350071 Q13033.201 UPI0000F734B1 NM_001083893.2 1/18 Gene3D:1.20.5.300,PDB-ENSP_mappings:4n6j.A,PDB-ENSP_mappings:4n6j.B,PDB-ENSP_mappings:6iur.C,PDB-ENSP_mappings:6iur.D,PDB-ENSP_mappings:6iur.G,PDB-ENSP_mappings:6iur.H,Coiled-coils_(Ncoils):Coil,Pfam:PF08232,PANTHER:PTHR15653,PANTHER:PTHR15653:SF3 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH NA SNV 5 NA NA NA . CCA . 457.6 NA NA NA NA NA NA NA NA NA 31025929 HECTD1 25831 . GRCh38 chr14 31113287 31113287 + Missense_Mutation SNP T T C rs763724166 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.6066A>G p.Ile2022Met p.I2022M ENST00000611816 35/45 NA NA NA NA NA NA HECTD1,missense_variant,p.Ile2018Met,ENST00000399332,NM_015382.4;HECTD1,missense_variant,p.Ile2018Met,ENST00000553700,;HECTD1,missense_variant,p.Ile2022Met,ENST00000611816,;HECTD1,missense_variant,p.Ile1445Met,ENST00000553957,;HECTD1,missense_variant,p.Ile384Met,ENST00000554882,;AP4S1,intron_variant,,ENST00000673317,;HECTD1,non_coding_transcript_exon_variant,,ENST00000555843,;AP4S1,intron_variant,,ENST00000672143,;AP4S1,intron_variant,,ENST00000673001,;HECTD1,downstream_gene_variant,,ENST00000554027,;HECTD1,upstream_gene_variant,,ENST00000555311,;HECTD1,downstream_gene_variant,,ENST00000557321,;RPL21P5,upstream_gene_variant,,ENST00000554662,; C ENSG00000092148 ENST00000611816 Transcript missense_variant 6389/8980 6066/7845 2022/2614 I/M atA/atG rs763724166 1 NA -1 HECTD1 HGNC HGNC:20157 protein_coding YES ENSP00000484981 A0A087X2H1.52 UPI0004E4C8D7 tolerated_low_confidence(0.23) benign(0.063) 35/45 PANTHER:PTHR45670,PANTHER:PTHR45670:SF2 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . ATA . 1624.6 4.015e-06 NA NA NA NA NA 8.844e-06 NA NA 31113287 ARHGAP5 394 . GRCh38 chr14 32093489 32093490 + Frame_Shift_Ins INS - - A novel NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2828dup p.Asn943LysfsTer10 p.N943Kfs*10 ENST00000345122 2/7 NA NA NA NA NA NA ARHGAP5,frameshift_variant,p.Asn943LysfsTer10,ENST00000345122,NM_001030055.2;ARHGAP5,frameshift_variant,p.Asn943LysfsTer10,ENST00000432921,;ARHGAP5,frameshift_variant,p.Asn943LysfsTer10,ENST00000539826,;ARHGAP5,frameshift_variant,p.Asn943LysfsTer10,ENST00000556611,NM_001173.3;ARHGAP5,intron_variant,,ENST00000396582,;ARHGAP5,intron_variant,,ENST00000433497,;ARHGAP5,intron_variant,,ENST00000554090,;ARHGAP5,downstream_gene_variant,,ENST00000555814,;ARHGAP5,downstream_gene_variant,,ENST00000556191,;ARHGAP5,upstream_gene_variant,,ENST00000557643,; A ENSG00000100852 ENST00000345122 Transcript frameshift_variant 3120-3121/9589 2820-2821/4509 940-941/1502 -/X -/A 1 NA 1 ARHGAP5 HGNC HGNC:675 protein_coding YES CCDS32062.1 ENSP00000371897 Q13017.178 UPI000057B85C NM_001030055.2 2/7 PROSITE_profiles:PS51853,PANTHER:PTHR46005,PANTHER:PTHR46005:SF2 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 insertion 5 8 NA 1 . AGA . 560.64 NA NA NA NA NA NA NA NA NA 32093489 EGLN3 112399 . GRCh38 chr14 33950419 33950419 + Missense_Mutation SNP A A T novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.334T>A p.Tyr112Asn p.Y112N ENST00000250457 1/5 NA NA NA NA NA NA EGLN3,missense_variant,p.Tyr112Asn,ENST00000547327,;EGLN3,missense_variant,p.Tyr112Asn,ENST00000250457,NM_022073.4;EGLN3,intron_variant,,ENST00000487915,;EGLN3,intron_variant,,ENST00000553215,NM_001308103.2;,regulatory_region_variant,,ENSR00000067496,; T ENSG00000129521 ENST00000250457 Transcript missense_variant 656/2706 334/720 112/239 Y/N Tac/Aac 1 NA -1 EGLN3 HGNC HGNC:14661 protein_coding YES CCDS9646.1 ENSP00000250457 Q9H6Z9.169 UPI000004F8A8 NM_022073.4 deleterious(0.03) possibly_damaging(0.801) 1/5 Gene3D:2.60.120.620,PANTHER:PTHR12907,PANTHER:PTHR12907:SF5,SMART:SM00702 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . TAT . 4957.6 NA NA NA NA NA NA NA NA NA 33950419 SEC23A 10484 . GRCh38 chr14 39067263 39067263 + Silent SNP A A G novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1137T>C p.Thr379= p.T379= ENST00000307712 10/20 NA NA NA NA NA NA SEC23A,synonymous_variant,p.Thr177=,ENST00000537403,;SEC23A,synonymous_variant,p.Thr379=,ENST00000307712,NM_006364.4;SEC23A,synonymous_variant,p.Thr350=,ENST00000545328,;SEC23A,upstream_gene_variant,,ENST00000553925,; G ENSG00000100934 ENST00000307712 Transcript synonymous_variant 1362/3843 1137/2298 379/765 T acT/acC 1 NA -1 SEC23A HGNC HGNC:10701 protein_coding YES CCDS9668.1 ENSP00000306881 Q15436.192 UPI000013EC46 NM_006364.4 10/20 PDB-ENSP_mappings:2nup.A,PDB-ENSP_mappings:2nut.A,PDB-ENSP_mappings:3efo.A,PDB-ENSP_mappings:3eg9.A,PDB-ENSP_mappings:3egd.A,PDB-ENSP_mappings:3egx.A,PDB-ENSP_mappings:5kyn.A,PDB-ENSP_mappings:5kyn.B,PDB-ENSP_mappings:5kyu.A,PDB-ENSP_mappings:5kyw.A,PDB-ENSP_mappings:5kyx.A,PDB-ENSP_mappings:5kyy.A,PDB-ENSP_mappings:5vne.A,PDB-ENSP_mappings:5vnf.A,PDB-ENSP_mappings:5vng.A,PDB-ENSP_mappings:5vnh.A,PDB-ENSP_mappings:5vni.A,PDB-ENSP_mappings:5vnj.A,PDB-ENSP_mappings:5vnk.A,PDB-ENSP_mappings:5vnl.A,PDB-ENSP_mappings:5vnm.A,PDB-ENSP_mappings:5vnn.A,PDB-ENSP_mappings:5vno.A,CDD:cd01478,PANTHER:PTHR11141:SF7,PANTHER:PTHR11141,Pfam:PF04811,Gene3D:3.40.50.410,Gene3D:2.60.40.1670,Superfamily:SSF81995,Superfamily:SSF53300 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . AAG . 2199.6 NA NA NA NA NA NA NA NA NA 39067263 FANCM 57697 . GRCh38 chr14 45151497 45151497 + Missense_Mutation SNP A A C novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1019A>C p.Gln340Pro p.Q340P ENST00000267430 5/23 NA NA NA NA NA NA FANCM,missense_variant,p.Gln340Pro,ENST00000267430,NM_020937.4;FANCM,missense_variant,p.Gln314Pro,ENST00000542564,NM_001308133.2;FANCM,missense_variant,p.Gln340Pro,ENST00000556036,NM_001308134.1;FANCM,upstream_gene_variant,,ENST00000556250,; C ENSG00000187790 ENST00000267430 Transcript missense_variant 1121/7131 1019/6147 340/2048 Q/P cAg/cCg 1 NA 1 FANCM HGNC HGNC:23168 protein_coding YES CCDS32070.1 ENSP00000267430 Q8IYD8.162 UPI000059F032 NM_020937.4 deleterious(0) possibly_damaging(0.658) 5/23 Gene3D:1.20.1320.20,Gene3D:3.40.50.300,PANTHER:PTHR14074,PANTHER:PTHR14074:SF33,Superfamily:SSF52540,CDD:cd12091 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . CAG . 1068.6 NA NA NA NA NA NA NA NA NA 45151497 MDGA2 161357 . GRCh38 chr14 46957468 46957468 + Silent SNP G G A rs368219229 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1995C>T p.Tyr665= p.Y665= ENST00000399232 9/17 NA NA NA NA NA NA MDGA2,synonymous_variant,p.Tyr665=,ENST00000399232,NM_001113498.2;MDGA2,synonymous_variant,p.Tyr466=,ENST00000426342,;MDGA2,synonymous_variant,p.Tyr367=,ENST00000357362,NM_182830.4;AL359951.1,upstream_gene_variant,,ENST00000515926,;MDGA2,3_prime_UTR_variant,,ENST00000557238,; A ENSG00000139915 ENST00000399232 Transcript synonymous_variant 2804/5726 1995/3078 665/1025 Y taC/taT rs368219229,COSV62081391 1 NA -1 MDGA2 HGNC HGNC:19835 protein_coding YES ENSP00000382178 Q7Z553.158 UPI0001DD21C1 NM_001113498.2 9/17 Gene3D:2.60.40.10,PROSITE_profiles:PS50835,PANTHER:PTHR42757,PANTHER:PTHR42757:SF34,SMART:SM00408,SMART:SM00409,Superfamily:SSF48726,Superfamily:SSF49265 NA NA NA NA NA NA NA NA 0.0001213 0,1 NA NA NA NA LOW 1 SNV 1 NA 0,1 NA NA . CGT . 2533.6 0.0001323 NA 0.0001159 NA NA NA 0.0002032 NA 0.0001961 46957468 CNIH1 10175 . GRCh38 chr14 54430274 54430274 + Frame_Shift_Del DEL A A - novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.442del p.Tyr148ThrfsTer6 p.Y148Tfs*6 ENST00000557690 5/6 NA NA NA NA NA NA CNIH1,frameshift_variant,p.Tyr132ThrfsTer6,ENST00000216416,NM_005776.3;CNIH1,frameshift_variant,p.Tyr148ThrfsTer6,ENST00000557690,;CNIH1,frameshift_variant,p.Tyr109ThrfsTer6,ENST00000553660,;CNIH1,frameshift_variant,p.Tyr132ThrfsTer10,ENST00000556113,;CNIH1,intron_variant,,ENST00000395573,;CNIH1,3_prime_UTR_variant,,ENST00000557659,;CNIH1,3_prime_UTR_variant,,ENST00000554683,; - ENSG00000100528 ENST00000557690 Transcript frameshift_variant 506/838 442/483 148/160 Y/X Tac/ac 1 NA -1 CNIH1 HGNC HGNC:19431 protein_coding YES ENSP00000451852 G3V4K0.78 UPI00004CAF61 5/6 Pfam:PF03311,PANTHER:PTHR12290,PANTHER:PTHR12290:SF10,SMART:SM01398,Transmembrane_helices:TMhelix,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 3 NA NA NA . GTAA . 4231.6 NA NA NA NA NA NA NA NA NA 54430273 GMFB 2764 . GRCh38 chr14 54479829 54479829 + Missense_Mutation SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.353C>T p.Ala118Val p.A118V ENST00000553333 7/8 NA NA NA NA NA NA GMFB,missense_variant,p.Ala105Val,ENST00000616146,;GMFB,missense_variant,p.Ala105Val,ENST00000358056,NM_004124.3;GMFB,missense_variant,p.Ala118Val,ENST00000553333,;GMFB,3_prime_UTR_variant,,ENST00000554908,;GMFB,3_prime_UTR_variant,,ENST00000628554,;GMFB,downstream_gene_variant,,ENST00000553566,;GMFB,3_prime_UTR_variant,,ENST00000554247,;GMFB,non_coding_transcript_exon_variant,,ENST00000554163,;GMFB,downstream_gene_variant,,ENST00000553952,;GMFB,downstream_gene_variant,,ENST00000554682,; A ENSG00000197045 ENST00000553333 Transcript missense_variant 494/591 353/450 118/150 A/V gCt/gTt 1 NA -1 GMFB HGNC HGNC:4373 protein_coding YES ENSP00000451920 G3V4P8.58 UPI00021CF00A deleterious(0) probably_damaging(0.975) 7/8 PROSITE_profiles:PS51263,CDD:cd11283,PANTHER:PTHR11249:SF3,PANTHER:PTHR11249,Gene3D:3.40.20.10,PIRSF:PIRSF001788,Pfam:PF00241,SMART:SM00102,Superfamily:SSF55753 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 3 NA NA NA . AGC . 2023.6 NA NA NA NA NA NA NA NA NA 54479829 ARMH4 145407 . GRCh38 chr14 58139237 58139237 + Missense_Mutation SNP T T C novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.122A>G p.His41Arg p.H41R ENST00000267485 2/8 NA NA NA NA NA NA ARMH4,missense_variant,p.His41Arg,ENST00000267485,NM_001001872.4;ARMH4,non_coding_transcript_exon_variant,,ENST00000334342,NM_001320173.2;ARMH4,non_coding_transcript_exon_variant,,ENST00000557175,;ARMH4,non_coding_transcript_exon_variant,,ENST00000554218,;,regulatory_region_variant,,ENSR00000498498,;UBA52P3,upstream_gene_variant,,ENST00000491303,; C ENSG00000139971 ENST00000267485 Transcript missense_variant 317/6495 122/2325 41/774 H/R cAt/cGt 1 NA -1 ARMH4 HGNC HGNC:19846 protein_coding YES CCDS32089.1 ENSP00000267485 Q86TY3.110 UPI000000CC37 NM_001001872.4 tolerated(0.26) benign(0.06) 2/8 MobiDB_lite:mobidb-lite,PANTHER:PTHR21585,Pfam:PF15767 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . ATG . 2720.6 NA NA NA NA NA NA NA NA NA 58139237 JKAMP 51528 . GRCh38 chr14 59487696 59487696 + Missense_Mutation SNP C C T rs766788999 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.161C>T p.Thr54Met p.T54M ENST00000554271 3/7 NA NA NA NA NA NA JKAMP,missense_variant,p.Thr48Met,ENST00000356057,NM_001284202.1;JKAMP,missense_variant,p.Thr40Met,ENST00000616435,NM_001284203.1,NM_001284204.1,NM_016475.5;JKAMP,missense_variant,p.Thr54Met,ENST00000554271,NM_001284201.1;JKAMP,missense_variant,p.Thr34Met,ENST00000425728,NM_001098625.2;JKAMP,missense_variant,p.Thr48Met,ENST00000554795,;JKAMP,missense_variant,p.Thr40Met,ENST00000556985,;L3HYPDH,upstream_gene_variant,,ENST00000247194,NM_144581.2,NM_001331164.2,NM_001331158.1,NM_001331159.1;L3HYPDH,upstream_gene_variant,,ENST00000481608,;L3HYPDH,upstream_gene_variant,,ENST00000487285,;AL121694.1,intron_variant,,ENST00000554253,;JKAMP,non_coding_transcript_exon_variant,,ENST00000557560,;JKAMP,non_coding_transcript_exon_variant,,ENST00000554754,;JKAMP,missense_variant,p.Thr40Met,ENST00000555491,;JKAMP,non_coding_transcript_exon_variant,,ENST00000602482,;JKAMP,non_coding_transcript_exon_variant,,ENST00000554721,;JKAMP,non_coding_transcript_exon_variant,,ENST00000553941,;L3HYPDH,upstream_gene_variant,,ENST00000527981,;JKAMP,downstream_gene_variant,,ENST00000553156,; T ENSG00000050130 ENST00000554271 Transcript missense_variant 687/2137 161/978 54/325 T/M aCg/aTg rs766788999,COSV54200931 1 NA 1 JKAMP HGNC HGNC:20184 protein_coding YES CCDS61462.1 ENSP00000450749 G3V2M4.75 UPI00001FD641 NM_001284201.1 deleterious(0.02) possibly_damaging(0.675) 3/7 Pfam:PF05571,PANTHER:PTHR12740,PANTHER:PTHR12740:SF3 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE NA SNV 2 NA 0,1 NA NA . ACG . 443.6 4.013e-06 NA NA NA NA NA 8.853e-06 NA NA 59487696 CCDC175 729665 . GRCh38 chr14 59565125 59565125 + Frame_Shift_Del DEL T T - novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.642del p.Lys214AsnfsTer9 p.K214Nfs*9 ENST00000281581 5/20 NA NA NA NA NA NA CCDC175,frameshift_variant,p.Lys214AsnfsTer9,ENST00000537690,NM_001164399.2;CCDC175,frameshift_variant,p.Lys214AsnfsTer9,ENST00000281581,;CCDC175,upstream_gene_variant,,ENST00000556936,;CCDC175,upstream_gene_variant,,ENST00000556996,;,regulatory_region_variant,,ENSR00000985463,; - ENSG00000151838 ENST00000281581 Transcript frameshift_variant 642/2487 642/2487 214/828 K/X aaA/aa 1 NA -1 CCDC175 HGNC HGNC:19847 protein_coding YES ENSP00000452964 A0A0A0MTQ8.29 UPI0000E671FC 5/20 Coiled-coils_(Ncoils):Coil,PANTHER:PTHR35347 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 5 NA NA NA . CATT . 1924.6 NA NA NA NA NA NA NA NA NA 59565124 SLC38A6 145389 . GRCh38 chr14 61083595 61083595 + Frame_Shift_Del DEL C C - rs766597518 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1449del p.His483GlnfsTer27 p.H483Qfs*27 ENST00000354886 17/17 NA NA NA NA NA NA SLC38A6,frameshift_variant,p.His483GlnfsTer27,ENST00000354886,NM_001172702.1;SLC38A6,frameshift_variant,p.His478GlnfsTer27,ENST00000451406,;SLC38A6,3_prime_UTR_variant,,ENST00000525723,;SLC38A6,3_prime_UTR_variant,,ENST00000491344,;SLC38A6,3_prime_UTR_variant,,ENST00000529345,;SLC38A6,3_prime_UTR_variant,,ENST00000526539,; - ENSG00000139974 ENST00000354886 Transcript frameshift_variant 1613/1730 1449/1566 483/521 H/X caC/ca rs766597518,COSV104420606 1 NA 1 SLC38A6 HGNC HGNC:19863 protein_coding YES CCDS53900.1 ENSP00000346959 Q8IZM9.113 UPI000049DDBA NM_001172702.1 17/17 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA HIGH 1 deletion 1 NA 0,1 NA NA . CACG . 3098.6 0.0001296 0.0001481 NA NA NA NA 0.0003328 NA NA 61083594 ESR2 2100 . GRCh38 chr14 64260676 64260676 + Missense_Mutation SNP G G A rs763594392 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.725C>T p.Ala242Val p.A242V ENST00000341099 5/9 NA NA NA NA NA NA ESR2,missense_variant,p.Ala242Val,ENST00000557772,;ESR2,missense_variant,p.Ala242Val,ENST00000554572,NM_001291712.2;ESR2,missense_variant,p.Ala242Val,ENST00000556275,;ESR2,missense_variant,p.Ala242Val,ENST00000353772,NM_001040275.1;ESR2,missense_variant,p.Ala242Val,ENST00000341099,NM_001437.2;ESR2,missense_variant,p.Ala242Val,ENST00000358599,NM_001291723.1;ESR2,missense_variant,p.Ala242Val,ENST00000555278,NM_001214902.1;ESR2,missense_variant,p.Ala242Val,ENST00000553796,NM_001271876.1;ESR2,missense_variant,p.Ala242Val,ENST00000267525,NM_001271877.1;ESR2,non_coding_transcript_exon_variant,,ENST00000555483,;ESR2,non_coding_transcript_exon_variant,,ENST00000554520,;ESR2,upstream_gene_variant,,ENST00000555783,;ESR2,missense_variant,p.Ala242Val,ENST00000344288,; A ENSG00000140009 ENST00000341099 Transcript missense_variant 1143/2060 725/1593 242/530 A/V gCc/gTc rs763594392,COSV99963420 1 NA -1 ESR2 HGNC HGNC:3468 protein_coding YES CCDS9762.1 ENSP00000343925 Q92731.227 Q7LCB3.144 UPI0000000964 NM_001437.2 tolerated(0.32) benign(0.001) 5/9 PIRSF:PIRSF002527,Gene3D:3.30.50.10,PIRSF:PIRSF500102,PANTHER:PTHR24084:SF1,PANTHER:PTHR24084 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 1 NA 0,1 NA 1 . GGC . 4055.6 4.411e-06 NA NA NA NA NA 9.727e-06 NA NA 64260676 ZBTB1 22890 . GRCh38 chr14 64522644 64522644 + Frame_Shift_Del DEL A A - rs747075448 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1147del p.Ser383ValfsTer6 p.S383Vfs*6 ENST00000554015 4/4 NA NA NA NA NA NA ZBTB1,frameshift_variant,p.Ser383ValfsTer6,ENST00000358738,NM_014950.3;ZBTB1,frameshift_variant,p.Ser383ValfsTer6,ENST00000554015,NM_001123329.1;ZBTB1,downstream_gene_variant,,ENST00000553583,;ZBTB1,downstream_gene_variant,,ENST00000555321,;ZBTB1,downstream_gene_variant,,ENST00000556965,;AL049869.2,intron_variant,,ENST00000554918,;AL049869.2,intron_variant,,ENST00000648003,; - ENSG00000126804 ENST00000554015 Transcript frameshift_variant 1571/2825 1140/2142 380/713 I/X atA/at rs747075448,COSV62437585 1 NA 1 ZBTB1 HGNC HGNC:20259 protein_coding YES CCDS45126.1 ENSP00000451000 Q9Y2K1.179 UPI00001FD6B2 NM_001123329.1 4/4 PANTHER:PTHR24399,PANTHER:PTHR24399:SF21 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA HIGH 1 deletion 1 7 0,1 NA NA . ATAA . 2777.6 NA NA NA NA NA NA NA NA NA 64522643 HSPA2 3306 . GRCh38 chr14 64542489 64542489 + Missense_Mutation SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1640C>T p.Ser547Phe p.S547F ENST00000394709 2/2 NA NA NA NA NA NA HSPA2,missense_variant,p.Ser547Phe,ENST00000394709,;HSPA2,missense_variant,p.Ser547Phe,ENST00000247207,NM_021979.3;AL049869.2,upstream_gene_variant,,ENST00000554918,;AL049869.2,upstream_gene_variant,,ENST00000648003,;HSPA2,downstream_gene_variant,,ENST00000554883,;,regulatory_region_variant,,ENSR00000069627,; T ENSG00000126803 ENST00000394709 Transcript missense_variant 1716/5400 1640/1920 547/639 S/F tCc/tTc 1 NA 1 HSPA2 HGNC HGNC:5235 protein_coding YES CCDS9766.1 ENSP00000378199 P54652.193 A0A024R6B5.52 UPI000012CC6A deleterious_low_confidence(0) probably_damaging(0.987) 2/2 Gene3D:1.20.1270.10,PDB-ENSP_mappings:5fpn.A,PDB-ENSP_mappings:5fpn.B,Pfam:PF00012,PANTHER:PTHR19375,PANTHER:PTHR19375:SF382,Superfamily:SSF100934 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . TCC . 3740.6 NA NA NA NA NA NA NA NA NA 64542489 SPTB 6710 . GRCh38 chr14 64802247 64802247 + Nonsense_Mutation SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.545G>A p.Trp182Ter p.W182* ENST00000644917 5/36 NA NA NA NA NA NA SPTB,stop_gained,p.Trp182Ter,ENST00000644917,NM_001355436.2;SPTB,stop_gained,p.Trp182Ter,ENST00000389722,NM_001024858.3;SPTB,stop_gained,p.Trp182Ter,ENST00000389720,NM_001355437.2;,regulatory_region_variant,,ENSR00000274940,; T ENSG00000070182 ENST00000644917 Transcript stop_gained 712/10177 545/6987 182/2328 W/* tGg/tAg 1 NA -1 SPTB HGNC HGNC:11274 protein_coding YES CCDS32099.1 ENSP00000495909 P11277.210 UPI000053030D NM_001355436.2 5/36 Gene3D:1.10.418.10,Pfam:PF00307,PIRSF:PIRSF002297,PROSITE_profiles:PS50021,PANTHER:PTHR11915,PANTHER:PTHR11915:SF248,SMART:SM00033,Superfamily:SSF47576,CDD:cd00014 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 SNV NA NA NA 1 . CCA . 2136.6 NA NA NA NA NA NA NA NA NA 64802247 PLEKHH1 57475 . GRCh38 chr14 67574363 67574363 + Missense_Mutation SNP G G C rs760382614 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2048G>C p.Arg683Pro p.R683P ENST00000329153 14/29 NA NA NA NA NA NA PLEKHH1,missense_variant,p.Arg683Pro,ENST00000329153,NM_020715.3;PLEKHH1,non_coding_transcript_exon_variant,,ENST00000557971,;PLEKHH1,non_coding_transcript_exon_variant,,ENST00000558386,;PLEKHH1,non_coding_transcript_exon_variant,,ENST00000558981,;PLEKHH1,upstream_gene_variant,,ENST00000558296,;PLEKHH1,downstream_gene_variant,,ENST00000561135,;PLEKHH1,upstream_gene_variant,,ENST00000561370,;PLEKHH1,downstream_gene_variant,,ENST00000561456,; C ENSG00000054690 ENST00000329153 Transcript missense_variant 2191/6615 2048/4095 683/1364 R/P cGg/cCg rs760382614 1 NA 1 PLEKHH1 HGNC HGNC:17733 protein_coding YES CCDS45128.1 ENSP00000330278 Q9ULM0.143 UPI00001C1F64 NM_020715.3 tolerated(0.3) benign(0.025) 14/29 Gene3D:2.30.29.30,PANTHER:PTHR22903,PANTHER:PTHR22903:SF4,Superfamily:SSF50729 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CGG . 4271.6 4.645e-06 NA NA NA NA NA 1.043e-05 NA NA 67574363 CCDC177 56936 . GRCh38 chr14 69572069 69572069 + Silent SNP A A G rs7142060 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1554T>C p.Gly518= p.G518= ENST00000599174 2/2 NA NA NA NA NA NA CCDC177,synonymous_variant,p.Gly518=,ENST00000599174,NM_001271507.2;,regulatory_region_variant,,ENSR00000500947,; G ENSG00000267909 ENST00000599174 Transcript synonymous_variant 1912/4182 1554/2124 518/707 G ggT/ggC rs7142060 1 NA -1 CCDC177 HGNC HGNC:23243 protein_coding YES CCDS59245.1 ENSP00000469474 Q9NQR7.91 UPI0000D62424 NM_001271507.2 2/2 Pfam:PF15558,PANTHER:PTHR33663,PANTHER:PTHR33663:SF1,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA 0.8979 0.9856 NA 0.996 0.9831 0.999 NA NA NA NA NA NA LOW 1 SNV 3 NA NA NA . GAC . 6121.03 NA NA NA NA NA NA NA NA NA 69572069 SMOC1 64093 . GRCh38 chr14 70010843 70010844 + Frame_Shift_Ins INS - - C novel NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.758dup p.Gly254TrpfsTer5 p.G254Wfs*5 ENST00000361956 8/12 NA NA NA NA NA NA SMOC1,frameshift_variant,p.Gly254TrpfsTer5,ENST00000361956,NM_001034852.3;SMOC1,frameshift_variant,p.Gly254TrpfsTer5,ENST00000381280,NM_022137.6;SMOC1,non_coding_transcript_exon_variant,,ENST00000557483,; C ENSG00000198732 ENST00000361956 Transcript frameshift_variant 1017-1018/3679 754-755/1308 252/435 A/AX gcc/gCcc 1 NA 1 SMOC1 HGNC HGNC:20318 protein_coding YES CCDS32110.1 ENSP00000355110 Q9H4F8.169 UPI0000071CCF NM_001034852.3 8/12 PROSITE_profiles:PS51162,CDD:cd00191,PANTHER:PTHR12352:SF13,PANTHER:PTHR12352,PROSITE_patterns:PS00484,Gene3D:4.10.800.10,Pfam:PF00086,SMART:SM00211,Superfamily:SSF57610 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 insertion 1 4 NA 1 . TGC . 4829.64 NA NA NA NA NA NA NA NA NA 70010843 TTC9 23508 . GRCh38 chr14 70642446 70642446 + Missense_Mutation SNP C C T rs769909175 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.317C>T p.Pro106Leu p.P106L ENST00000256367 1/3 NA NA NA NA NA NA TTC9,missense_variant,p.Pro106Leu,ENST00000256367,NM_015351.2;AL357153.1,upstream_gene_variant,,ENST00000500016,;AL357153.3,upstream_gene_variant,,ENST00000553982,;,regulatory_region_variant,,ENSR00000070323,; T ENSG00000133985 ENST00000256367 Transcript missense_variant 531/5094 317/669 106/222 P/L cCg/cTg rs769909175 1 NA 1 TTC9 HGNC HGNC:20267 protein_coding YES CCDS45132.1 ENSP00000256367 Q92623.149 A0A024R6B1.50 UPI00001C1F60 NM_015351.2 deleterious(0.02) benign(0) 1/3 Gene3D:1.25.40.10,PANTHER:PTHR43811,PANTHER:PTHR43811:SF2,Superfamily:SSF48452,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CCG . 3726.6 6.279e-06 NA NA NA NA NA NA 0.0002283 NA 70642446 MIDEAS 91748 . GRCh38 chr14 73739070 73739070 + Frame_Shift_Del DEL G G - rs762448666 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.939del p.Asn314ThrfsTer4 p.N314Tfs*4 ENST00000423556 1/12 NA NA NA NA NA NA MIDEAS,frameshift_variant,p.Asn314ThrfsTer4,ENST00000286523,NM_194278.3;MIDEAS,frameshift_variant,p.Asn314ThrfsTer4,ENST00000394071,NM_001043318.3;MIDEAS,frameshift_variant,p.Asn314ThrfsTer4,ENST00000435371,;MIDEAS,frameshift_variant,p.Asn314ThrfsTer4,ENST00000423556,NM_001367710.1;MIDEAS,downstream_gene_variant,,ENST00000421708,;MIDEAS,downstream_gene_variant,,ENST00000486739,;MIDEAS,frameshift_variant,p.Asn136ThrfsTer4,ENST00000451078,; - ENSG00000156030 ENST00000423556 Transcript frameshift_variant 1186/3547 939/3300 313/1099 P/X ccC/cc rs762448666 1 NA -1 MIDEAS HGNC HGNC:19853 protein_coding YES ENSP00000407767 A0A1C7CYX1.30 UPI0000D69647 NM_001367710.1 1/12 PANTHER:PTHR16089,PANTHER:PTHR16089:SF24,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 2 NA NA NA . TTGG . 1636.6 1.389e-05 NA NA NA NA 5.393e-05 2.056e-05 NA NA 73739069 NEK9 91754 . GRCh38 chr14 75109789 75109789 + Frame_Shift_Del DEL G G - rs1566653581 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1078del p.Gln360ArgfsTer35 p.Q360Rfs*35 ENST00000678037 10/22 NA NA NA NA NA NA NEK9,frameshift_variant,p.Gln360ArgfsTer35,ENST00000238616,NM_033116.6;NEK9,frameshift_variant,p.Gln360ArgfsTer35,ENST00000678037,NM_001329237.2;NEK9,frameshift_variant,p.Gln242ArgfsTer35,ENST00000678531,NM_001329238.2;NEK9,frameshift_variant,p.Gln242ArgfsTer35,ENST00000678749,;NEK9,frameshift_variant,p.Gln360ArgfsTer35,ENST00000553823,;NEK9,frameshift_variant,p.Gln70ArgfsTer45,ENST00000677700,;NEK9,3_prime_UTR_variant,,ENST00000557673,;NEK9,non_coding_transcript_exon_variant,,ENST00000557026,;NEK9,non_coding_transcript_exon_variant,,ENST00000556170,;NEK9,non_coding_transcript_exon_variant,,ENST00000677411,;ZC2HC1C,intron_variant,,ENST00000673981,;NEK9,upstream_gene_variant,,ENST00000676476,;NEK9,upstream_gene_variant,,ENST00000676711,; - ENSG00000119638 ENST00000678037 Transcript frameshift_variant 1121/6172 1078/2976 360/991 Q/X Cag/ag rs1566653581 1 NA -1 NEK9 HGNC HGNC:18591 protein_coding YES ENSP00000504620 UPI000387DE96 NM_001329237.2 10/22 PANTHER:PTHR44535,PANTHER:PTHR44535:SF1,Gene3D:2.130.10.30,Superfamily:SSF50985 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion NA NA NA 1 . CTGG . 3096.6 NA NA NA NA NA NA NA NA NA 75109788 SAMD15 161394 . GRCh38 chr14 77378798 77378798 + Silent SNP C C T rs772152492 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1380C>T p.Tyr460= p.Y460= ENST00000216471 1/3 NA NA NA NA NA NA SAMD15,synonymous_variant,p.Tyr460=,ENST00000216471,NM_001010860.2;SAMD15,intron_variant,,ENST00000533095,;TMED8,upstream_gene_variant,,ENST00000216468,NM_001346134.1,NM_213601.3,NM_001346131.2,NM_001346133.2; T ENSG00000100583 ENST00000216471 Transcript synonymous_variant 1666/2564 1380/2025 460/674 Y taC/taT rs772152492,COSV53626606 1 NA 1 SAMD15 HGNC HGNC:18631 protein_coding YES CCDS32126.1 ENSP00000216471 Q9P1V8.117 UPI0000072F0E NM_001010860.2 1/3 PANTHER:PTHR46829 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA LOW NA SNV 2 NA 0,1 NA NA . ACG . 2731.6 3.602e-05 NA NA 9.986e-05 NA NA 4.413e-05 0.000164 6.634e-05 77378798 NRXN3 9369 . GRCh38 chr14 79697918 79697918 + Missense_Mutation SNP G G A rs200707419 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3995G>A p.Arg1332His p.R1332H ENST00000335750 19/21 NA NA NA NA NA NA NRXN3,missense_variant,p.Arg1332His,ENST00000335750,NM_001330195.2,NM_001366425.1;NRXN3,missense_variant,p.Arg297His,ENST00000281127,NM_138970.5;NRXN3,missense_variant,p.Arg1321His,ENST00000554738,;NRXN3,missense_variant,p.Arg1336His,ENST00000634499,NM_001366426.1;NRXN3,missense_variant,p.Arg327His,ENST00000428277,NM_001105250.3;NRXN3,missense_variant,p.Arg929His,ENST00000554719,NM_004796.6;NRXN3,missense_variant,p.Arg1089His,ENST00000635466,;NRXN3,missense_variant,p.Arg297His,ENST00000557594,NM_001272020.2;NRXN3,missense_variant,p.Arg327His,ENST00000555387,;NRXN3,missense_variant,p.Arg327His,ENST00000679122,;NRXN3,missense_variant,p.Arg327His,ENST00000676811,;AC008056.1,intron_variant,,ENST00000553322,;NRXN3,intron_variant,,ENST00000556003,; A ENSG00000021645 ENST00000335750 Transcript missense_variant 5000/12048 3995/4716 1332/1571 R/H cGc/cAc rs200707419,COSV55311664 1 NA 1 NRXN3 HGNC HGNC:8010 protein_coding YES CCDS81831.1 ENSP00000338349 A0A0A0MR89.45 UPI0002743B3B NM_001330195.2,NM_001366425.1 deleterious(0.02) probably_damaging(0.984) 19/21 PANTHER:PTHR15036,PANTHER:PTHR15036:SF48,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE NA SNV 5 NA 0,1 NA 1 . CGC . 2088.6 7.593e-05 NA 5.808e-05 9.966e-05 NA NA 0.0001151 0.0001643 6.537e-05 79697918 PTPN21 11099 . GRCh38 chr14 88473769 88473769 + Frame_Shift_Del DEL T T - rs778292578 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2545del p.Ile849LeufsTer9 p.I849Lfs*9 ENST00000556564 14/19 NA NA NA NA NA NA PTPN21,frameshift_variant,p.Ile849LeufsTer9,ENST00000556564,NM_007039.4;PTPN21,frameshift_variant,p.Ile849LeufsTer9,ENST00000328736,;PTPN21,upstream_gene_variant,,ENST00000553531,;SPATA7,downstream_gene_variant,,ENST00000556406,;PTPN21,3_prime_UTR_variant,,ENST00000536337,;PTPN21,non_coding_transcript_exon_variant,,ENST00000554270,;PTPN21,non_coding_transcript_exon_variant,,ENST00000557249,;,regulatory_region_variant,,ENSR00000987814,; - ENSG00000070778 ENST00000556564 Transcript frameshift_variant 3104/6443 2545/3525 849/1174 I/X Att/tt rs778292578 1 NA -1 PTPN21 HGNC HGNC:9651 protein_coding YES CCDS9884.1 ENSP00000452414 Q16825.173 UPI000013D15F NM_007039.4 14/19 PIRSF:PIRSF000934,PANTHER:PTHR45706,PANTHER:PTHR45706:SF3 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 NA NA NA . AATT . 99.6 0.0001695 0.0002582 0.0003344 NA 0.0001787 4.685e-05 0.0001096 0.000176 0.0003247 88473768 ZC3H14 79882 . GRCh38 chr14 88603060 88603060 + Missense_Mutation SNP G G T NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1747G>T p.Ala583Ser p.A583S ENST00000251038 12/17 NA NA NA NA NA NA ZC3H14,missense_variant,p.Ala583Ser,ENST00000251038,NM_001326297.2,NM_001326315.2,NM_024824.5,NM_001160103.2,NM_001326316.1;ZC3H14,missense_variant,p.Ala558Ser,ENST00000393514,NM_001326301.2,NM_001326307.2,NM_001326296.2,NM_001326312.2,NM_001326299.2;ZC3H14,missense_variant,p.Ala499Ser,ENST00000556000,NM_001326300.2,NM_001326302.2,NM_001326305.2,NM_001326314.2;ZC3H14,missense_variant,p.Ala285Ser,ENST00000555900,;ZC3H14,intron_variant,,ENST00000302216,NM_001326298.2,NM_207660.4,NM_001326313.2,NM_001326306.2;ZC3H14,intron_variant,,ENST00000318308,NM_207662.4;ZC3H14,intron_variant,,ENST00000336693,NM_001326303.2,NM_207661.2;ZC3H14,intron_variant,,ENST00000406216,;ZC3H14,intron_variant,,ENST00000555755,NM_001326310.2,NM_001160104.2;ZC3H14,intron_variant,,ENST00000556945,NM_001326295.2;ZC3H14,intron_variant,,ENST00000557607,NM_001326308.2,NM_001326304.2,NM_001326309.2,NM_001326311.2;ZC3H14,upstream_gene_variant,,ENST00000555792,;ZC3H14,downstream_gene_variant,,ENST00000557737,;ZC3H14,splice_region_variant,,ENST00000649731,;ZC3H14,splice_region_variant,,ENST00000554020,;ZC3H14,downstream_gene_variant,,ENST00000556110,; T ENSG00000100722 ENST00000251038 Transcript missense_variant,splice_region_variant 1844/18153 1747/2211 583/736 A/S Gct/Tct COSV51767079 1 NA 1 ZC3H14 HGNC HGNC:20509 protein_coding YES CCDS32133.1 ENSP00000251038 Q6PJT7.155 UPI00001BDB9B NM_001326297.2,NM_001326315.2,NM_024824.5,NM_001160103.2,NM_001326316.1 tolerated(0.42) benign(0.021) 12/17 PANTHER:PTHR14738,PANTHER:PTHR14738:SF29 NA NA NA NA NA NA NA NA NA 1 NA NA NA NA MODERATE 1 SNV 1 NA 1 NA 1 . CGG . 1116.6 NA NA NA NA NA NA NA NA NA 88603060 CATSPERB 79820 . GRCh38 chr14 91659864 91659864 + Missense_Mutation SNP G G A rs377645915 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1405C>T p.Arg469Cys p.R469C ENST00000256343 15/27 NA NA NA NA NA NA CATSPERB,missense_variant,p.Arg469Cys,ENST00000256343,NM_024764.4;CATSPERB,intron_variant,,ENST00000557036,; A ENSG00000133962 ENST00000256343 Transcript missense_variant 1562/3699 1405/3351 469/1116 R/C Cgt/Tgt rs377645915 1 NA -1 CATSPERB HGNC HGNC:20500 protein_coding YES CCDS32142.1 ENSP00000256343 Q9H7T0.134 UPI0000418DA1 NM_024764.4 deleterious(0.03) possibly_damaging(0.458) 15/27 PANTHER:PTHR14705 NA NA NA NA NA NA NA NA 0.0001163 NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CGT . 1238.6 3.713e-05 NA 0.0001567 0.0001008 5.629e-05 NA 8.961e-06 NA 3.514e-05 91659864 ATXN3 4287 . GRCh38 chr14 92071010 92071011 + In_Frame_Ins INS - - CTGCTGCTGCTGCTGCTGCTGCTGCTG rs193922928 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.942_943insCAGCAGCAGCAGCAGCAGCAGCAGCAG p.Gln306_Gln314dup p.Q306_Q314dup ENST00000545170 11/12 NA NA NA NA NA NA ATXN3,inframe_insertion,p.Gln306_Gln314dup,ENST00000545170,;ATXN3,inframe_insertion,p.Gln297_Gln305dup,ENST00000644486,NM_001164778.2,NM_004993.6;ATXN3,inframe_insertion,p.Gln246_Gln254dup,ENST00000393287,NM_001127697.2;ATXN3,inframe_insertion,p.Gln227_Gln235dup,ENST00000429774,NM_001164781.1,NM_001164779.2;ATXN3,inframe_insertion,p.Gln282_Gln290dup,ENST00000503767,NM_001127696.2;ATXN3,inframe_insertion,p.Gln118_Gln126dup,ENST00000502250,NM_001164780.2;ATXN3,inframe_insertion,p.Gln242_Gln250dup,ENST00000340660,NM_030660.5;ATXN3,inframe_insertion,p.Gln297_Gln305dup,ENST00000532032,;ATXN3,inframe_insertion,p.Gln306_Gln314dup,ENST00000620536,;ATXN3,inframe_insertion,p.Gln296_Gln304dup,ENST00000554592,;ATXN3,inframe_insertion,p.Gln246_Gln254dup,ENST00000553491,;ATXN3,inframe_insertion,p.Gln227_Gln235dup,ENST00000555381,;ATXN3,inframe_insertion,p.Gln191_Gln199dup,ENST00000556220,;ATXN3,inframe_insertion,p.Gln118_Gln126dup,ENST00000557311,;ATXN3,3_prime_UTR_variant,,ENST00000617719,;ATXN3,downstream_gene_variant,,ENST00000554672,;ATXN3,non_coding_transcript_exon_variant,,ENST00000554491,;ATXN3,non_coding_transcript_exon_variant,,ENST00000553309,;ATXN3,non_coding_transcript_exon_variant,,ENST00000553498,;ATXN3,non_coding_transcript_exon_variant,,ENST00000553686,;ATXN3,non_coding_transcript_exon_variant,,ENST00000555958,;ATXN3,non_coding_transcript_exon_variant,,ENST00000554214,;ATXN3,non_coding_transcript_exon_variant,,ENST00000553287,;ATXN3,non_coding_transcript_exon_variant,,ENST00000554040,;ATXN3,non_coding_transcript_exon_variant,,ENST00000556339,;ATXN3,non_coding_transcript_exon_variant,,ENST00000556644,NM_001164776.2;ATXN3,inframe_insertion,p.Gln297_Gln305dup,ENST00000647161,;ATXN3,3_prime_UTR_variant,,ENST00000359366,;ATXN3,3_prime_UTR_variant,,ENST00000556374,;ATXN3,3_prime_UTR_variant,,ENST00000553488,;ATXN3,3_prime_UTR_variant,,ENST00000556898,;ATXN3,3_prime_UTR_variant,,ENST00000554350,;ATXN3,3_prime_UTR_variant,,ENST00000554994,;ATXN3,3_prime_UTR_variant,,ENST00000556671,;ATXN3,3_prime_UTR_variant,,ENST00000556274,;ATXN3,3_prime_UTR_variant,,ENST00000556288,;ATXN3,3_prime_UTR_variant,,ENST00000557030,;ATXN3,3_prime_UTR_variant,,ENST00000556958,;ATXN3,3_prime_UTR_variant,,ENST00000555816,;ATXN3,3_prime_UTR_variant,,ENST00000553570,;ATXN3,downstream_gene_variant,,ENST00000556082,;ATXN3,downstream_gene_variant,,ENST00000556315,;ATXN3,downstream_gene_variant,,ENST00000646485,; CTGCTGCTGCTGCTGCTGCTGCTGCTG ENSG00000066427 ENST00000545170 Transcript inframe_insertion 1011-1012/6950 942-943/1113 314-315/370 -/QQQQQQQQQ -/CAGCAGCAGCAGCAGCAGCAGCAGCAG rs193922928,COSV61493529,COSV61493715,COSV61496110 1 NA -1 ATXN3 HGNC HGNC:7106 protein_coding YES ENSP00000445618 F5H211.62 UPI0001AE69E0 11/12 Pfam:PF16619,PANTHER:PTHR14159,PANTHER:PTHR14159:SF1,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA 0,1,1,1 7874163 NA NA NA NA MODERATE 1 insertion 5 NA 1,1,1,1 NA 1 . CCC . 2316.1 NA NA NA NA NA NA NA NA NA 92071010 UNC79 57578 . GRCh38 chr14 93582333 93582333 + Missense_Mutation SNP T T C novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2792T>C p.Val931Ala p.V931A ENST00000553484 20/51 NA NA NA NA NA NA UNC79,missense_variant,p.Val931Ala,ENST00000553484,;UNC79,missense_variant,p.Val931Ala,ENST00000555664,;UNC79,missense_variant,p.Val754Ala,ENST00000256339,NM_020818.5;UNC79,missense_variant,p.Val931Ala,ENST00000393151,NM_001346218.2;UNC79,missense_variant,p.Val754Ala,ENST00000621021,; C ENSG00000133958 ENST00000553484 Transcript missense_variant 2946/9100 2792/7974 931/2657 V/A gTg/gCg 1 NA 1 UNC79 HGNC HGNC:19966 protein_coding YES ENSP00000451360 Q9P2D8.113 UPI00021CF3DB tolerated_low_confidence(1) benign(0.001) 20/51 PANTHER:PTHR21696,PANTHER:PTHR21696:SF2 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . GTG . 1726.6 NA NA NA NA NA NA NA NA NA 93582333 FAM181A 90050 . GRCh38 chr14 93929072 93929072 + Missense_Mutation SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.973G>A p.Gly325Arg p.G325R ENST00000267594 3/3 NA NA NA NA NA NA FAM181A,missense_variant,p.Gly325Arg,ENST00000267594,NM_138344.5;FAM181A,missense_variant,p.Gly263Arg,ENST00000557000,NM_001207072.2;FAM181A,missense_variant,p.Gly263Arg,ENST00000556222,NM_001207073.2,NM_001207074.2;FAM181A,missense_variant,p.Gly263Arg,ENST00000557719,NM_001207071.2;FAM181A,downstream_gene_variant,,ENST00000554404,;FAM181A-AS1,upstream_gene_variant,,ENST00000554538,;FAM181A-AS1,upstream_gene_variant,,ENST00000554742,;FAM181A-AS1,upstream_gene_variant,,ENST00000555732,;FAM181A-AS1,upstream_gene_variant,,ENST00000556290,; A ENSG00000140067 ENST00000267594 Transcript missense_variant 1280/1816 973/1065 325/354 G/R Ggg/Agg 1 NA 1 FAM181A HGNC HGNC:20491 protein_coding YES CCDS9914.1 ENSP00000267594 Q8N9Y4.121 UPI00004567C0 NM_138344.5 deleterious(0.03) probably_damaging(0.965) 3/3 Pfam:PF15238,PANTHER:PTHR33766,PANTHER:PTHR33766:SF1 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE NA SNV 2 NA NA NA . GGG . 2799.6 NA NA NA NA NA NA NA NA NA 93929072 IFI27 3429 . GRCh38 chr14 94115785 94115793 + In_Frame_Del DEL GGCCATGGC GGCCATGGC - rs3064076 NA HCI-EC-23 NORMAL GGCCATGGC GGCCATGGC NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.129_137del p.Met44_Ala46del p.M44_A46del ENST00000612813 4/5 NA NA NA NA NA NA IFI27,splice_acceptor_variant,,ENST00000620066,;IFI27,start_lost,,ENST00000618863,NM_001288960.2;IFI27,inframe_deletion,p.Met44_Ala46del,ENST00000612813,NM_001366993.1,NM_001288957.2;IFI27,inframe_deletion,p.Met44_Ala46del,ENST00000616764,NM_001288954.2;IFI27,inframe_deletion,p.Met44_Ala46del,ENST00000614204,;IFI27,inframe_deletion,p.Met44_Ala46del,ENST00000621160,NM_005532.5,NM_001288995.2,NM_001366994.1,NM_001288958.2;IFI27,inframe_deletion,p.Met34_Ala36del,ENST00000620396,;IFI27,inframe_deletion,p.Met44_Ala46del,ENST00000618200,;IFI27,inframe_deletion,p.Met44_Ala46del,ENST00000611954,;IFI27,downstream_gene_variant,,ENST00000555819,;IFI27,inframe_deletion,p.His14_Gly16del,ENST00000614288,;IFI27,non_coding_transcript_exon_variant,,ENST00000612499,;IFI27,non_coding_transcript_exon_variant,,ENST00000614648,;IFI27,downstream_gene_variant,,ENST00000555081,;IFI27,downstream_gene_variant,,ENST00000557700,; - ENSG00000165949 ENST00000612813 Transcript inframe_deletion 314-322/725 126-134/369 42-45/122 VAMA/V gtGGCCATGGCg/gtg rs3064076 1 NA 1 IFI27 HGNC HGNC:5397 protein_coding YES CCDS32148.1 ENSP00000483430 P40305.151 UPI00000527F5 NM_001366993.1,NM_001288957.2 4/5 Gene3D:1.10.246.160,Pfam:PF06140,PANTHER:PTHR16932,PANTHER:PTHR16932:SF15,Transmembrane_helices:TMhelix,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 deletion 3 3 NA NA . GTGGCCATGGCG . 4248.6 NA NA NA NA NA NA NA NA NA 94115784 GSC 145258 . GRCh38 chr14 94769006 94769006 + Silent SNP C C T rs765173607 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.567G>A p.Thr189= p.T189= ENST00000238558 2/3 NA NA NA NA NA NA GSC,synonymous_variant,p.Thr189=,ENST00000238558,NM_173849.3;AL121612.2,upstream_gene_variant,,ENST00000643862,;,regulatory_region_variant,,ENSR00000506181,; T ENSG00000133937 ENST00000238558 Transcript synonymous_variant 665/1140 567/774 189/257 T acG/acA rs765173607,COSV99450450 1 NA -1 GSC HGNC HGNC:4612 protein_coding YES CCDS9930.1 ENSP00000238558 P56915.158 UPI000000D86A NM_173849.3 2/3 PDB-ENSP_mappings:2dmu.A,PROSITE_profiles:PS50071,CDD:cd00086,PANTHER:PTHR46643,PANTHER:PTHR46643:SF2,Gene3D:1.10.10.60,Pfam:PF00046,SMART:SM00389,Superfamily:SSF46689 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA LOW 1 SNV 1 NA 0,1 NA 1 . GCG . 3763.6 4.727e-06 NA NA NA NA NA 1.086e-05 NA NA 94769006 DICER1 23405 . GRCh38 chr14 95104108 95104108 + Silent SNP G G A rs761973752 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3288C>T p.Phe1096= p.F1096= ENST00000343455 21/27 NA NA NA NA NA NA DICER1,synonymous_variant,p.Phe1096=,ENST00000343455,NM_177438.3;DICER1,synonymous_variant,p.Phe1096=,ENST00000526495,NM_001291628.1,NM_030621.4;DICER1,synonymous_variant,p.Phe1096=,ENST00000393063,;DICER1,synonymous_variant,p.Phe1096=,ENST00000527414,NM_001271282.3;DICER1,synonymous_variant,p.Phe1096=,ENST00000532939,;DICER1,synonymous_variant,p.Phe1096=,ENST00000541352,NM_001195573.1;DICER1,synonymous_variant,p.Phe1096=,ENST00000556045,;DICER1,3_prime_UTR_variant,,ENST00000675995,;DICER1,non_coding_transcript_exon_variant,,ENST00000554367,;DICER1,intron_variant,,ENST00000675540,;DICER1,downstream_gene_variant,,ENST00000556681,; A ENSG00000100697 ENST00000343455 Transcript synonymous_variant 3633/10384 3288/5769 1096/1922 F ttC/ttT rs761973752,COSV100601595,COSV58619675 1 NA -1 DICER1 HGNC HGNC:17098 protein_coding YES CCDS9931.1 ENSP00000343745 Q9UPY3.191 UPI0000168662 NM_177438.3 21/27 PDB-ENSP_mappings:5zak.A,PDB-ENSP_mappings:5zal.A,PDB-ENSP_mappings:5zam.A,PANTHER:PTHR14950,PANTHER:PTHR14950:SF37 NA NA NA NA NA NA NA NA NA likely_benign 0,1,1 NA NA NA NA LOW 1 SNV 1 NA 1,1,1 NA 1 . CGA . 2273.6 8.011e-06 NA NA NA NA NA 1.768e-05 NA NA 95104108 TCL1B 9623 . GRCh38 chr14 95686473 95686473 + Silent SNP C C A novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.6C>A p.Ala2= p.A2= ENST00000340722 1/4 NA NA NA NA NA NA TCL1B,synonymous_variant,p.Ala2=,ENST00000340722,NM_004918.4;AL133467.3,intron_variant,,ENST00000461160,;AL133467.3,intron_variant,,ENST00000488933,;AL133467.3,intron_variant,,ENST00000495847,;AL133467.3,intron_variant,,ENST00000553913,;TCL1B,non_coding_transcript_exon_variant,,ENST00000464815,;TCL1B,upstream_gene_variant,,ENST00000556665,; A ENSG00000213231 ENST00000340722 Transcript synonymous_variant 48/1142 6/387 2/128 A gcC/gcA 1 NA 1 TCL1B HGNC HGNC:11649 protein_coding YES CCDS32151.1 ENSP00000343223 O95988.144 A0A024R6P4.32 UPI0000136ACA NM_004918.4 1/4 Gene3D:2.40.15.10,Pfam:PF01840,PANTHER:PTHR14060,PANTHER:PTHR14060:SF2 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . CCT . 9644.6 NA NA NA NA NA NA NA NA NA 95686473 BDKRB2 624 . GRCh38 chr14 96240824 96240824 + Missense_Mutation SNP G G T NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.496G>T p.Gly166Cys p.G166C ENST00000554311 3/3 NA NA NA NA NA NA BDKRB2,missense_variant,p.Gly139Cys,ENST00000542454,;BDKRB2,missense_variant,p.Gly166Cys,ENST00000554311,NM_001379692.1,NM_000623.4;BDKRB2,missense_variant,p.Gly139Cys,ENST00000539359,;AL355102.2,intron_variant,,ENST00000553811,;AL355102.2,upstream_gene_variant,,ENST00000555847,; T ENSG00000168398 ENST00000554311 Transcript missense_variant 656/3996 496/1176 166/391 G/C Ggc/Tgc COSV100021231 1 NA 1 BDKRB2 HGNC HGNC:1030 protein_coding YES CCDS9942.1 ENSP00000450482 P30411.193 UPI00000503EB NM_001379692.1,NM_000623.4 deleterious(0) probably_damaging(0.99) 3/3 Gene3D:1.20.1070.10,Pfam:PF00001,PROSITE_profiles:PS50262,PANTHER:PTHR24228,PANTHER:PTHR24228:SF25,Superfamily:SSF81321,CDD:cd15381 NA NA NA NA NA NA NA NA NA 1 NA NA NA NA MODERATE 1 SNV 1 NA 1 NA NA . GGG . 3767.6 NA NA NA NA NA NA NA NA NA 96240824 BCL11B 64919 . GRCh38 chr14 99174869 99174869 + Frame_Shift_Del DEL C C - novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1967del p.Gly656AlafsTer67 p.G656Afs*67 ENST00000357195 4/4 NA NA NA NA NA NA BCL11B,frameshift_variant,p.Gly656AlafsTer67,ENST00000357195,NM_001282237.2,NM_138576.4;BCL11B,frameshift_variant,p.Gly585AlafsTer67,ENST00000345514,NM_001282238.2,NM_022898.3;BCL11B,frameshift_variant,p.Gly462AlafsTer67,ENST00000443726,;,regulatory_region_variant,,ENSR00000072909,;,regulatory_region_variant,,ENSR00000507170,; - ENSG00000127152 ENST00000357195 Transcript frameshift_variant 2946/8528 1967/2685 656/894 G/X gGc/gc 1 NA -1 BCL11B HGNC HGNC:13222 protein_coding YES CCDS9950.1 ENSP00000349723 Q9C0K0.159 L8B7P7.66 UPI000006E083 NM_001282237.2,NM_138576.4 4/4 PANTHER:PTHR45993,PANTHER:PTHR45993:SF4,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 NA NA 1 . CGCC . 1217.6 NA NA NA NA NA NA NA NA NA 99174868 CCNK 8812 . GRCh38 chr14 99510689 99510689 + Frame_Shift_Del DEL C C - novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1655del p.Pro552LeufsTer28 p.P552Lfs*28 ENST00000389879 11/11 NA NA NA NA NA NA CCNK,frameshift_variant,p.Pro552LeufsTer28,ENST00000389879,NM_001099402.2;CCDC85C,3_prime_UTR_variant,,ENST00000380243,NM_001144995.2;CCNK,intron_variant,,ENST00000555049,;CCDC85C,downstream_gene_variant,,ENST00000554877,;CCDC85C,downstream_gene_variant,,ENST00000554996,;CCDC85C,downstream_gene_variant,,ENST00000555822,;CCDC85C,downstream_gene_variant,,ENST00000557576,;CCDC85C,downstream_gene_variant,,ENST00000557769,;AL110504.1,upstream_gene_variant,,ENST00000557733,;CCNK,non_coding_transcript_exon_variant,,ENST00000553865,;,regulatory_region_variant,,ENSR00000988902,; - ENSG00000090061 ENST00000389879 Transcript frameshift_variant 1773/3524 1650/1743 550/580 V/X gtC/gt 1 NA 1 CCNK HGNC HGNC:1596 protein_coding YES CCDS45160.1 ENSP00000374529 O75909.191 A0A024R6K1.52 UPI00001FDB50 NM_001099402.2 11/11 Low_complexity_(Seg):seg,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 5 5 NA 1 . GTCC . 735.6 NA NA NA NA NA NA NA NA NA 99510688 CCDC85C 317762 . GRCh38 chr14 99603270 99603270 + Frame_Shift_Del DEL G G - rs1566788126 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.690del p.Pro232ArgfsTer47 p.P232Rfs*47 ENST00000380243 1/6 NA NA NA NA NA NA CCDC85C,frameshift_variant,p.Pro232ArgfsTer47,ENST00000380243,NM_001144995.2;AL160313.1,upstream_gene_variant,,ENST00000502101,;,regulatory_region_variant,,ENSR00000072980,; - ENSG00000205476 ENST00000380243 Transcript frameshift_variant 938/16564 690/1260 230/419 P/X ccC/cc rs1566788126 1 NA -1 CCDC85C HGNC HGNC:35459 protein_coding YES CCDS45161.1 ENSP00000369592 A6NKD9.99 UPI0000D62448 NM_001144995.2 1/6 PANTHER:PTHR13546,PANTHER:PTHR13546:SF14,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH NA deletion 5 NA NA NA . CCGG . 2619.6 6.475e-05 NA NA NA NA NA NA NA 0.0003115 99603269 YY1 7528 . GRCh38 chr14 100239472 100239472 + Silent SNP C C T rs775418554 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.228C>T p.His76= p.H76= ENST00000262238 1/5 NA NA NA NA NA NA YY1,synonymous_variant,p.His76=,ENST00000262238,NM_003403.5;YY1,upstream_gene_variant,,ENST00000553625,;YY1,downstream_gene_variant,,ENST00000554371,;YY1,upstream_gene_variant,,ENST00000554804,;AL133523.1,upstream_gene_variant,,ENST00000554537,;YY1,upstream_gene_variant,,ENST00000651219,;,regulatory_region_variant,,ENSR00000073098,; T ENSG00000100811 ENST00000262238 Transcript synonymous_variant 329/6534 228/1245 76/414 H caC/caT rs775418554,COSV51761432 1 NA 1 YY1 HGNC HGNC:12856 protein_coding YES CCDS9957.1 ENSP00000262238 P25490.225 UPI00001378FC NM_003403.5 1/5 PIRSF:PIRSF037113,PANTHER:PTHR14003:SF11,PANTHER:PTHR14003,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA LOW 1 SNV 1 NA 0,1 NA 1 . ACC . 4904.6 9.141e-06 NA 6.062e-05 NA NA NA NA NA NA 100239472 HSP90AA1 3320 . GRCh38 chr14 102139268 102139268 + Missense_Mutation SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.137C>T p.Ser46Leu p.S46L ENST00000334701 1/12 NA NA NA NA NA NA HSP90AA1,missense_variant,p.Ser46Leu,ENST00000334701,NM_001017963.3;HSP90AA1,missense_variant,p.Ser46Leu,ENST00000558600,;WDR20,upstream_gene_variant,,ENST00000299135,NM_001353681.2,NM_001242414.2;WDR20,upstream_gene_variant,,ENST00000322340,NM_001242415.2;WDR20,upstream_gene_variant,,ENST00000335263,NM_001353658.2,NM_181291.3,NM_001320130.2;WDR20,upstream_gene_variant,,ENST00000342702,NM_001353669.2,NM_001353656.2,NM_001353657.2,NM_001242418.2,NM_001353660.2,NM_001353661.2,NM_001353677.2,NM_144574.4,NM_001353676.2,NM_001353672.2,NM_001353674.2,NM_001353678.2;WDR20,upstream_gene_variant,,ENST00000424963,NM_001330228.2,NM_001353667.2;WDR20,upstream_gene_variant,,ENST00000454394,NM_001242417.2,NM_001353673.2;WDR20,upstream_gene_variant,,ENST00000556511,NM_001353659.2,NM_181308.3;WDR20,upstream_gene_variant,,ENST00000556807,NM_001353662.2,NM_001353675.2,NM_001242416.2,NM_001353680.2,NM_001353663.2,NM_001353666.2,NM_001353664.2,NM_001353665.2;WDR20,upstream_gene_variant,,ENST00000558567,;WDR20,upstream_gene_variant,,ENST00000557186,;WDR20,upstream_gene_variant,,ENST00000557485,;WDR20,upstream_gene_variant,,ENST00000561154,;HSP90AA1,missense_variant,p.Ser46Leu,ENST00000557234,;WDR20,upstream_gene_variant,,ENST00000555879,;WDR20,upstream_gene_variant,,ENST00000556094,;,regulatory_region_variant,,ENSR00000073335,; A ENSG00000080824 ENST00000334701 Transcript missense_variant 419/3510 137/2565 46/854 S/L tCg/tTg 1 NA -1 HSP90AA1 HGNC HGNC:5253 protein_coding YES CCDS32160.1 ENSP00000335153 P07900.255 UPI0000408144 NM_001017963.3 benign(0) 1/12 MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . CGA . 1404.6 NA NA NA NA NA NA NA NA NA 102139268 ANKRD9 122416 . GRCh38 chr14 102507593 102507593 + Silent SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.297G>A p.Ala99= p.A99= ENST00000286918 4/4 NA NA NA NA NA NA ANKRD9,synonymous_variant,p.Ala99=,ENST00000286918,NM_001348652.2,NM_152326.4,NM_001348651.2;ANKRD9,synonymous_variant,p.Ala99=,ENST00000559404,;ANKRD9,synonymous_variant,p.Ala99=,ENST00000559651,;ANKRD9,synonymous_variant,p.Ala99=,ENST00000560748,;ANKRD9,synonymous_variant,p.Ala99=,ENST00000557902,;,regulatory_region_variant,,ENSR00000989300,; T ENSG00000156381 ENST00000286918 Transcript synonymous_variant 879/6705 297/954 99/317 A gcG/gcA 1 NA -1 ANKRD9 HGNC HGNC:20096 protein_coding YES CCDS9973.1 ENSP00000286918 Q96BM1.132 UPI000000CC75 NM_001348652.2,NM_152326.4,NM_001348651.2 4/4 PANTHER:PTHR24133,PANTHER:PTHR24133:SF16,Gene3D:1.25.40.20 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . GCG . 6078.6 NA NA NA NA NA NA NA NA NA 102507593 BAG5 9529 . GRCh38 chr14 103560738 103560738 + Missense_Mutation SNP T T A novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.550A>T p.Ile184Phe p.I184F ENST00000337322 2/2 NA NA NA NA NA NA BAG5,missense_variant,p.Ile143Phe,ENST00000445922,NM_004873.4;BAG5,missense_variant,p.Ile143Phe,ENST00000299204,NM_001015048.2;BAG5,missense_variant,p.Ile184Phe,ENST00000337322,NM_001015049.3;COA8,upstream_gene_variant,,ENST00000409074,NM_001302652.2,NM_001370595.2;AL139300.1,upstream_gene_variant,,ENST00000472726,;COA8,upstream_gene_variant,,ENST00000473127,;COA8,upstream_gene_variant,,ENST00000476323,;COA8,upstream_gene_variant,,ENST00000477116,;COA8,upstream_gene_variant,,ENST00000492189,;COA8,upstream_gene_variant,,ENST00000495778,NM_001302654.2;COA8,upstream_gene_variant,,ENST00000556253,NM_001302653.2;KLC1,upstream_gene_variant,,ENST00000557172,;COA8,upstream_gene_variant,,ENST00000674165,;AL139300.2,intron_variant,,ENST00000556332,;COA8,upstream_gene_variant,,ENST00000497901,;COA8,upstream_gene_variant,,ENST00000440963,;COA8,upstream_gene_variant,,ENST00000458117,;COA8,upstream_gene_variant,,ENST00000489117,;COA8,upstream_gene_variant,,ENST00000554625,; A ENSG00000166170 ENST00000337322 Transcript missense_variant 841/1960 550/1467 184/488 I/F Atc/Ttc 1 NA -1 BAG5 HGNC HGNC:941 protein_coding YES CCDS41995.1 ENSP00000338814 Q9UL15.167 UPI00001FDC93 NM_001015049.3 deleterious_low_confidence(0) benign(0.219) 2/2 Gene3D:1.20.58.120,PANTHER:PTHR12329,PANTHER:PTHR12329:SF2 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . ATT . 5110.6 NA NA NA NA NA NA NA NA NA 103560738 INF2 64423 . GRCh38 chr14 104707526 104707531 + In_Frame_Del DEL CCCCAC CCCCAC - rs573567814 NA HCI-EC-23 NORMAL CCCCAC CCCCAC NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1376_1381del p.Pro459_Pro460del p.P459_P460del ENST00000675207 8/23 NA NA NA NA NA NA INF2,inframe_deletion,p.Pro459_Pro460del,ENST00000675207,;INF2,inframe_deletion,p.Pro427_Pro428del,ENST00000392634,NM_022489.4;INF2,inframe_deletion,p.Pro427_Pro428del,ENST00000330634,NM_001031714.4;INF2,inframe_deletion,p.Pro427_Pro428del,ENST00000675638,;INF2,inframe_deletion,p.Pro427_Pro428del,ENST00000675980,;INF2,inframe_deletion,p.Pro427_Pro428del,ENST00000675481,;INF2,inframe_deletion,p.Pro419_Pro420del,ENST00000675329,;INF2,inframe_deletion,p.Pro99_Pro100del,ENST00000674602,;INF2,intron_variant,,ENST00000674991,;INF2,downstream_gene_variant,,ENST00000398337,NM_032714.2;INF2,upstream_gene_variant,,ENST00000674631,;INF2,downstream_gene_variant,,ENST00000676134,;INF2,inframe_deletion,p.Pro427_Pro428del,ENST00000617571,;INF2,inframe_deletion,p.Pro427_Pro428del,ENST00000674757,;INF2,inframe_deletion,p.Pro427_Pro428del,ENST00000674662,;INF2,inframe_deletion,p.Pro427_Pro428del,ENST00000675809,;INF2,inframe_deletion,p.Pro427_Pro428del,ENST00000674520,;INF2,inframe_deletion,p.Pro427_Pro428del,ENST00000674846,;INF2,inframe_deletion,p.Pro427_Pro428del,ENST00000675930,;INF2,inframe_deletion,p.Pro427_Pro428del,ENST00000675724,;INF2,inframe_deletion,p.Pro427_Pro428del,ENST00000675583,;INF2,inframe_deletion,p.Pro427_Pro428del,ENST00000676016,;INF2,inframe_deletion,p.Pro427_Pro428del,ENST00000676366,;INF2,3_prime_UTR_variant,,ENST00000674857,;INF2,3_prime_UTR_variant,,ENST00000674822,;INF2,3_prime_UTR_variant,,ENST00000674960,;INF2,3_prime_UTR_variant,,ENST00000674994,;INF2,intron_variant,,ENST00000675771,;INF2,intron_variant,,ENST00000675797,;INF2,upstream_gene_variant,,ENST00000252527,;INF2,upstream_gene_variant,,ENST00000474229,;INF2,upstream_gene_variant,,ENST00000480763,;INF2,downstream_gene_variant,,ENST00000675029,;INF2,upstream_gene_variant,,ENST00000675557,;,regulatory_region_variant,,ENSR00000508858,; - ENSG00000203485 ENST00000675207 Transcript inframe_deletion 1499-1504/7732 1355-1360/3846 452-454/1281 TPP/T aCCCCACcc/acc rs573567814 1 NA 1 INF2 HGNC HGNC:23791 protein_coding YES ENSP00000502644 UPI000387B6D9 8/23 PANTHER:PTHR46345,Low_complexity_(Seg):seg NA NA NA NA NA NA NA 0.02388 0.01978 NA NA NA NA MODERATE 1 deletion NA 21 1 NA 1 . CACCCCACC . 622.6 NA NA NA NA NA NA NA NA NA 104707525 IGHJ6 0 . GRCh38 chr14 105863240 105863241 + Frame_Shift_Del DEL TG TG - rs879953341 NA HCI-EC-23 NORMAL TG TG NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.18_19del p.Met7GlyfsTer? p.M7Gfs*? ENST00000390560 1/1 NA NA NA NA NA NA IGHJ6,frameshift_variant,p.Met7GlyfsTer?,ENST00000390560,;IGHJ2,downstream_gene_variant,,ENST00000390564,;IGHJ1,downstream_gene_variant,,ENST00000390565,;IGHD7-27,downstream_gene_variant,,ENST00000439842,;IGHJ4,downstream_gene_variant,,ENST00000461719,;IGHJ3,downstream_gene_variant,,ENST00000463911,;IGHJ5,downstream_gene_variant,,ENST00000488476,;MIR4538,upstream_gene_variant,,ENST00000581377,;MIR4537,upstream_gene_variant,,ENST00000581717,;,regulatory_region_variant,,ENSR00000509256,;IGHJ3P,downstream_gene_variant,,ENST00000436826,;IGHJ1P,downstream_gene_variant,,ENST00000450690,;IGHJ2P,downstream_gene_variant,,ENST00000454480,; - ENSG00000211900 ENST00000390560 Transcript frameshift_variant 18-19/61 18-19/61 6-7/20 YM/YX taCAtg/tatg rs879953341 1 NA -1 IGHJ6 HGNC HGNC:5540 IG_J_gene YES ENSP00000419223 A0A0A0MT91.20 UPI000173A6A4 1/1 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion NA NA NA NA . CATGT . 9461.03 NA NA NA NA NA NA NA NA NA 105863239 IGHJ6 0 . GRCh38 chr14 105863243 105863244 + Frame_Shift_Ins INS - - CC rs373021870 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.15_16insGG p.Tyr6GlyfsTer? p.Y6Gfs*? ENST00000390560 1/1 NA NA NA NA NA NA IGHJ6,frameshift_variant,p.Tyr6GlyfsTer?,ENST00000390560,;IGHJ2,downstream_gene_variant,,ENST00000390564,;IGHJ1,downstream_gene_variant,,ENST00000390565,;IGHD7-27,downstream_gene_variant,,ENST00000439842,;IGHJ4,downstream_gene_variant,,ENST00000461719,;IGHJ3,downstream_gene_variant,,ENST00000463911,;IGHJ5,downstream_gene_variant,,ENST00000488476,;MIR4537,upstream_gene_variant,,ENST00000581717,;,regulatory_region_variant,,ENSR00000509256,;IGHJ3P,downstream_gene_variant,,ENST00000436826,;IGHJ1P,downstream_gene_variant,,ENST00000450690,;IGHJ2P,downstream_gene_variant,,ENST00000454480,; CC ENSG00000211900 ENST00000390560 Transcript frameshift_variant 15-16/61 15-16/61 5-6/20 -/X -/GG rs373021870 1 NA -1 IGHJ6 HGNC HGNC:5540 IG_J_gene YES ENSP00000419223 A0A0A0MT91.20 UPI000173A6A4 1/1 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 insertion NA NA NA NA . TAG . 9569.06 NA NA NA NA NA NA NA NA NA 105863243 IGHD1-1 0 . GRCh38 chr14 105919514 105919514 + Missense_Mutation SNP G G T rs1555402173 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.5C>A p.Thr2Lys p.T2K ENST00000454908 1/1 NA NA NA NA NA NA IGHD1-1,missense_variant,p.Thr2Lys,ENST00000454908,;IGHD2-2,upstream_gene_variant,,ENST00000390591,;FAM30A,intron_variant,,ENST00000628233,;FAM30A,intron_variant,,ENST00000629589,;FAM30A,intron_variant,,ENST00000630242,;FAM30A,upstream_gene_variant,,ENST00000619942,;FAM30A,upstream_gene_variant,,ENST00000628159,;FAM30A,upstream_gene_variant,,ENST00000631009,; T ENSG00000236170 ENST00000454908 Transcript missense_variant 5/17 5/17 2/5 T/K aCa/aAa rs1555402173 1 NA -1 IGHD1-1 HGNC HGNC:5482 IG_D_gene YES ENSP00000418625 P0DOY5.12 UPI00015B7BCD benign(0.396) 1/1 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE NA SNV NA NA NA NA . TGT . 2848.6 4.109e-06 NA NA NA NA NA 9.218e-06 NA NA 105919514 IGHV1-2 0 . GRCh38 chr14 105986650 105986650 + Silent SNP G G T rs782089287 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.285C>A p.Ile95= p.I95= ENST00000390594 2/2 NA NA NA NA NA NA IGHV1-2,synonymous_variant,p.Ile95=,ENST00000390594,;,regulatory_region_variant,,ENSR00000989817,; T ENSG00000211934 ENST00000390594 Transcript synonymous_variant 349/417 285/353 95/117 I atC/atA rs782089287 1 NA -1 IGHV1-2 HGNC HGNC:5550 IG_V_gene YES ENSP00000375003 P23083.134 UPI00034F2390 2/2 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV NA NA NA NA . TGA . 473.6 NA NA NA NA NA NA NA NA NA 105986650 IGHV1-2 0 . GRCh38 chr14 105986656 105986656 + Silent SNP C C G rs782470675 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.279G>C p.Thr93= p.T93= ENST00000390594 2/2 NA NA NA NA NA NA IGHV1-2,synonymous_variant,p.Thr93=,ENST00000390594,;,regulatory_region_variant,,ENSR00000989817,; G ENSG00000211934 ENST00000390594 Transcript synonymous_variant 343/417 279/353 93/117 T acG/acC rs782470675 1 NA -1 IGHV1-2 HGNC HGNC:5550 IG_V_gene YES ENSP00000375003 P23083.134 UPI00034F2390 2/2 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV NA NA NA NA . ACG . 476.6 NA NA NA NA NA NA NA NA NA 105986656 IGHV1-2 0 . GRCh38 chr14 105986661 105986661 + Missense_Mutation SNP C C T rs1170013911 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.274G>A p.Asp92Asn p.D92N ENST00000390594 2/2 NA NA NA NA NA NA IGHV1-2,missense_variant,p.Asp92Asn,ENST00000390594,;,regulatory_region_variant,,ENSR00000989817,; T ENSG00000211934 ENST00000390594 Transcript missense_variant 338/417 274/353 92/117 D/N Gac/Aac rs1170013911 1 NA -1 IGHV1-2 HGNC HGNC:5550 IG_V_gene YES ENSP00000375003 P23083.134 UPI00034F2390 deleterious(0.02) benign(0.433) 2/2 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV NA NA NA NA . TCC . 638.6 4.062e-06 6.478e-05 NA NA NA NA NA NA NA 105986661 IGHV1-2 0 . GRCh38 chr14 105986686 105986686 + Silent SNP A A G rs1250341958 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.249T>C p.Phe83= p.F83= ENST00000390594 2/2 NA NA NA NA NA NA IGHV1-2,synonymous_variant,p.Phe83=,ENST00000390594,;,regulatory_region_variant,,ENSR00000989817,; G ENSG00000211934 ENST00000390594 Transcript synonymous_variant 313/417 249/353 83/117 F ttT/ttC rs1250341958 1 NA -1 IGHV1-2 HGNC HGNC:5550 IG_V_gene YES ENSP00000375003 P23083.134 UPI00034F2390 2/2 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV NA NA NA NA . GAA . 1717.6 8.122e-06 0.0001296 NA NA NA NA NA NA NA 105986686 IGHV1-2 0 . GRCh38 chr14 105986709 105986709 + Missense_Mutation SNP C C T rs567161886 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.226G>A p.Gly76Ser p.G76S ENST00000390594 2/2 NA NA NA NA NA NA IGHV1-2,missense_variant,p.Gly76Ser,ENST00000390594,;,regulatory_region_variant,,ENSR00000989817,; T ENSG00000211934 ENST00000390594 Transcript missense_variant 290/417 226/353 76/117 G/S Ggc/Agc rs567161886 1 NA -1 IGHV1-2 HGNC HGNC:5550 IG_V_gene YES ENSP00000375003 P23083.134 UPI00034F2390 tolerated(0.85) benign(0.001) 2/2 4e-04 0.0015 NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV NA NA NA NA . CCA . 3029.6 4.061e-06 6.478e-05 NA NA NA NA NA NA NA 105986709 IGHV1-2 0 . GRCh38 chr14 105986725 105986725 + Missense_Mutation SNP G G C rs370887829 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.210C>G p.Ile70Met p.I70M ENST00000390594 2/2 NA NA NA NA NA NA IGHV1-2,missense_variant,p.Ile70Met,ENST00000390594,;,regulatory_region_variant,,ENSR00000989817,; C ENSG00000211934 ENST00000390594 Transcript missense_variant 274/417 210/353 70/117 I/M atC/atG rs370887829 1 NA -1 IGHV1-2 HGNC HGNC:5550 IG_V_gene YES ENSP00000375003 P23083.134 UPI00034F2390 deleterious(0.02) benign(0.344) 2/2 NA NA NA NA NA NA NA NA 0.0002399 NA NA NA NA MODERATE 1 SNV NA NA NA NA . TGA . 3684.6 1.218e-05 NA NA 0.0001002 NA NA NA 0.0003322 NA 105986725 IGHV1-2 0 . GRCh38 chr14 105986757 105986757 + Missense_Mutation SNP G G T rs781877284 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.178C>A p.Pro60Thr p.P60T ENST00000390594 2/2 NA NA NA NA NA NA IGHV1-2,missense_variant,p.Pro60Thr,ENST00000390594,;,regulatory_region_variant,,ENSR00000989817,; T ENSG00000211934 ENST00000390594 Transcript missense_variant 242/417 178/353 60/117 P/T Cct/Act rs781877284 1 NA -1 IGHV1-2 HGNC HGNC:5550 IG_V_gene YES ENSP00000375003 P23083.134 UPI00034F2390 deleterious(0.03) benign(0.361) 2/2 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV NA NA NA NA . GGG . 5566.6 NA NA NA NA NA NA NA NA NA 105986757 IGHV1-2 0 . GRCh38 chr14 105986776 105986776 + Missense_Mutation SNP C C G rs1061865 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.159G>C p.Met53Ile p.M53I ENST00000390594 2/2 NA NA NA NA NA NA IGHV1-2,missense_variant,p.Met53Ile,ENST00000390594,;,regulatory_region_variant,,ENSR00000989817,; G ENSG00000211934 ENST00000390594 Transcript missense_variant 223/417 159/353 53/117 M/I atG/atC rs1061865 1 NA -1 IGHV1-2 HGNC HGNC:5550 IG_V_gene YES ENSP00000375003 P23083.134 UPI00034F2390 tolerated(0.5) benign(0.003) 2/2 NA 8e-04 NA NA 0.001 NA NA NA NA NA NA NA NA MODERATE 1 SNV NA NA NA NA . GCA . 5642.6 3.252e-05 NA NA 0.000201 5.572e-05 NA 3.633e-05 0.0001663 NA 105986776 IGHV1-2 0 . GRCh38 chr14 105986781 105986781 + Missense_Mutation SNP A A C rs192043188 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.154T>G p.Tyr52Asp p.Y52D ENST00000390594 2/2 NA NA NA NA NA NA IGHV1-2,missense_variant,p.Tyr52Asp,ENST00000390594,;,regulatory_region_variant,,ENSR00000989817,; C ENSG00000211934 ENST00000390594 Transcript missense_variant 218/417 154/353 52/117 Y/D Tat/Gat rs192043188 1 NA -1 IGHV1-2 HGNC HGNC:5550 IG_V_gene YES ENSP00000375003 P23083.134 UPI00034F2390 tolerated(0.17) benign(0.003) 2/2 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV NA NA NA NA . TAG . 5525.6 NA NA NA NA NA NA NA NA NA 105986781 IGHV1-2 0 . GRCh38 chr14 105986782 105986782 + Silent SNP G G A rs782815172 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.153C>T p.Tyr51= p.Y51= ENST00000390594 2/2 NA NA NA NA NA NA IGHV1-2,synonymous_variant,p.Tyr51=,ENST00000390594,;,regulatory_region_variant,,ENSR00000989817,; A ENSG00000211934 ENST00000390594 Transcript synonymous_variant 217/417 153/353 51/117 Y taC/taT rs782815172 1 NA -1 IGHV1-2 HGNC HGNC:5550 IG_V_gene YES ENSP00000375003 P23083.134 UPI00034F2390 2/2 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV NA NA NA NA . AGT . 5507.6 3.656e-05 6.495e-05 NA 0.0001003 NA NA 6.351e-05 NA NA 105986782 IGHV1-2 0 . GRCh38 chr14 105986785 105986785 + Silent SNP G G A rs555265641 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.150C>T p.Gly50= p.G50= ENST00000390594 2/2 NA NA NA NA NA NA IGHV1-2,synonymous_variant,p.Gly50=,ENST00000390594,;,regulatory_region_variant,,ENSR00000989817,; A ENSG00000211934 ENST00000390594 Transcript synonymous_variant 214/417 150/353 50/117 G ggC/ggT rs555265641 1 NA -1 IGHV1-2 HGNC HGNC:5550 IG_V_gene YES ENSP00000375003 P23083.134 UPI00034F2390 2/2 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV NA NA NA NA . AGC . 5471.6 NA NA NA NA NA NA NA NA NA 105986785 IGHV1-2 0 . GRCh38 chr14 105986887 105986887 + Splice_Region SNP T T A rs782006126 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.48A>T p.Gly16= p.G16= ENST00000390594 2/2 NA NA NA NA NA NA IGHV1-2,splice_region_variant,p.Gly16=,ENST00000390594,;,regulatory_region_variant,,ENSR00000989817,; A ENSG00000211934 ENST00000390594 Transcript splice_region_variant,synonymous_variant 112/417 48/353 16/117 G ggA/ggT rs782006126 1 NA -1 IGHV1-2 HGNC HGNC:5550 IG_V_gene YES ENSP00000375003 P23083.134 UPI00034F2390 2/2 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV NA NA NA NA . CTC . 699.6 1.22e-05 6.498e-05 NA NA NA NA 1.818e-05 NA NA 105986887 IGHV3-7 0 . GRCh38 chr14 106062599 106062599 + Silent SNP C C T rs2073679 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.6G>A p.Glu2= p.E2= ENST00000390598 1/2 NA NA NA NA NA NA IGHV3-7,synonymous_variant,p.Glu2=,ENST00000390598,;,regulatory_region_variant,,ENSR00000276364,;,regulatory_region_variant,,ENSR00000989832,; T ENSG00000211938 ENST00000390598 Transcript synonymous_variant 85/430 6/351 2/117 E gaG/gaA rs2073679 1 NA -1 IGHV3-7 HGNC HGNC:5620 IG_V_gene YES ENSP00000375007 P01780.108 UPI0000115FF4 1/2 NA 0.416 0.549 NA 0.6935 0.5726 0.5194 NA NA NA NA NA NA LOW 1 SNV NA NA NA NA . ACT . 3781.6 NA NA NA NA NA NA NA NA NA 106062599 IGHV5-10-1 0 . GRCh38 chr14 106108385 106108385 + Missense_Mutation SNP G G C rs1274668248 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.23C>G p.Ala8Gly p.A8G ENST00000632950 1/2 NA NA NA NA NA NA IGHV5-10-1,missense_variant,p.Ala8Gly,ENST00000632950,; C ENSG00000282651 ENST00000632950 Transcript missense_variant 80/410 23/353 8/117 A/G gCc/gGc rs1274668248 1 NA -1 IGHV5-10-1 HGNC HGNC:5661 IG_V_gene YES ENSP00000488144 A0A0J9YXX1.28 UPI0006454750 deleterious(0) benign(0.087) 1/2 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV NA NA NA NA . GGC . 9077.03 NA NA NA NA NA NA NA NA NA 106108385 IGHV5-10-1 0 . GRCh38 chr14 106108387 106108387 + Silent SNP G G A rs1318545928 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.21C>T p.Leu7= p.L7= ENST00000632950 1/2 NA NA NA NA NA NA IGHV5-10-1,synonymous_variant,p.Leu7=,ENST00000632950,; A ENSG00000282651 ENST00000632950 Transcript synonymous_variant 78/410 21/353 7/117 L ctC/ctT rs1318545928 1 NA -1 IGHV5-10-1 HGNC HGNC:5661 IG_V_gene YES ENSP00000488144 A0A0J9YXX1.28 UPI0006454750 1/2 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV NA NA NA NA . CGA . 9077.03 NA NA NA NA NA NA NA NA NA 106108387 IGHV3-11 100293211 . GRCh38 chr14 106116668 106116668 + Missense_Mutation SNP G G T rs374839348 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.320C>A p.Ala107Asp p.A107D ENST00000390601 2/2 NA NA NA NA NA NA IGHV3-11,missense_variant,p.Ala107Asp,ENST00000390601,;,regulatory_region_variant,,ENSR00000276368,;,regulatory_region_variant,,ENSR00000989835,;IGHVIII-11-1,downstream_gene_variant,,ENST00000522733,; T ENSG00000211941 ENST00000390601 Transcript missense_variant 440/473 320/353 107/117 A/D gCc/gAc rs374839348 1 NA -1 IGHV3-11 HGNC HGNC:5580 IG_V_gene YES ENSP00000375010 P01762.111 UPI0002C6D522 deleterious_low_confidence(0.04) benign(0.115) 2/2 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV NA NA NA NA . GGC . 2342.6 NA NA NA NA NA NA NA NA NA 106116668 IGHV3-11 100293211 . GRCh38 chr14 106116709 106116709 + Silent SNP G G A rs781910584 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.279C>T p.Asn93= p.N93= ENST00000390601 2/2 NA NA NA NA NA NA IGHV3-11,synonymous_variant,p.Asn93=,ENST00000390601,;,regulatory_region_variant,,ENSR00000276368,;,regulatory_region_variant,,ENSR00000989835,;IGHVIII-11-1,downstream_gene_variant,,ENST00000522733,; A ENSG00000211941 ENST00000390601 Transcript synonymous_variant 399/473 279/353 93/117 N aaC/aaT rs781910584 1 NA -1 IGHV3-11 HGNC HGNC:5580 IG_V_gene YES ENSP00000375010 P01762.111 UPI0002C6D522 2/2 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV NA NA NA NA . CGT . 1315.6 1.22e-05 NA NA 0.0001006 NA NA 1.818e-05 NA NA 106116709 IGHV3-11 100293211 . GRCh38 chr14 106116756 106116756 + Missense_Mutation SNP T T A rs201642285 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.232A>T p.Asn78Tyr p.N78Y ENST00000390601 2/2 NA NA NA NA NA NA IGHV3-11,missense_variant,p.Asn78Tyr,ENST00000390601,;,regulatory_region_variant,,ENSR00000276368,;,regulatory_region_variant,,ENSR00000989835,;IGHVIII-11-1,downstream_gene_variant,,ENST00000522733,; A ENSG00000211941 ENST00000390601 Transcript missense_variant 352/473 232/353 78/117 N/Y Aac/Tac rs201642285 1 NA -1 IGHV3-11 HGNC HGNC:5580 IG_V_gene YES ENSP00000375010 P01762.111 UPI0002C6D522 tolerated_low_confidence(1) benign(0) 2/2 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV NA NA NA NA . TTT . 4336.6 NA NA NA NA NA NA NA NA NA 106116756 IGHV3-11 100293211 . GRCh38 chr14 106116758 106116758 + Missense_Mutation SNP G G A rs200148307 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.230C>T p.Thr77Ile p.T77I ENST00000390601 2/2 NA NA NA NA NA NA IGHV3-11,missense_variant,p.Thr77Ile,ENST00000390601,;,regulatory_region_variant,,ENSR00000276368,;,regulatory_region_variant,,ENSR00000989835,;IGHVIII-11-1,downstream_gene_variant,,ENST00000522733,; A ENSG00000211941 ENST00000390601 Transcript missense_variant 350/473 230/353 77/117 T/I aCa/aTa rs200148307 1 NA -1 IGHV3-11 HGNC HGNC:5580 IG_V_gene YES ENSP00000375010 P01762.111 UPI0002C6D522 tolerated_low_confidence(0.17) benign(0.037) 2/2 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV NA NA NA NA . TGT . 4447.6 NA NA NA NA NA NA NA NA NA 106116758 IGHV3-11 100293211 . GRCh38 chr14 106116761 106116761 + Missense_Mutation SNP T T G rs200917720 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.227A>C p.Tyr76Ser p.Y76S ENST00000390601 2/2 NA NA NA NA NA NA IGHV3-11,missense_variant,p.Tyr76Ser,ENST00000390601,;,regulatory_region_variant,,ENSR00000276368,;,regulatory_region_variant,,ENSR00000989835,;IGHVIII-11-1,downstream_gene_variant,,ENST00000522733,; G ENSG00000211941 ENST00000390601 Transcript missense_variant 347/473 227/353 76/117 Y/S tAc/tCc rs200917720 1 NA -1 IGHV3-11 HGNC HGNC:5580 IG_V_gene YES ENSP00000375010 P01762.111 UPI0002C6D522 tolerated_low_confidence(1) benign(0) 2/2 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV NA NA NA NA . GTA . 4867.6 NA NA NA NA NA NA NA NA NA 106116761 IGHV3-11 100293211 . GRCh38 chr14 106116762 106116762 + Missense_Mutation SNP A A T rs201754859 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.226T>A p.Tyr76Asn p.Y76N ENST00000390601 2/2 NA NA NA NA NA NA IGHV3-11,missense_variant,p.Tyr76Asn,ENST00000390601,;,regulatory_region_variant,,ENSR00000276368,;,regulatory_region_variant,,ENSR00000989835,;IGHVIII-11-1,downstream_gene_variant,,ENST00000522733,; T ENSG00000211941 ENST00000390601 Transcript missense_variant 346/473 226/353 76/117 Y/N Tac/Aac rs201754859 1 NA -1 IGHV3-11 HGNC HGNC:5580 IG_V_gene YES ENSP00000375010 P01762.111 UPI0002C6D522 tolerated_low_confidence(0.22) benign(0) 2/2 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV NA NA NA NA . TAA . 4943.6 NA NA NA NA NA NA NA NA NA 106116762 IGHV3-11 100293211 . GRCh38 chr14 106116768 106116768 + Missense_Mutation SNP T T C rs2003432 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.220A>G p.Ser74Gly p.S74G ENST00000390601 2/2 NA NA NA NA NA NA IGHV3-11,missense_variant,p.Ser74Gly,ENST00000390601,;,regulatory_region_variant,,ENSR00000276368,;,regulatory_region_variant,,ENSR00000989835,;IGHVIII-11-1,downstream_gene_variant,,ENST00000522733,; C ENSG00000211941 ENST00000390601 Transcript missense_variant 340/473 220/353 74/117 S/G Agt/Ggt rs2003432 1 NA -1 IGHV3-11 HGNC HGNC:5580 IG_V_gene YES ENSP00000375010 P01762.111 UPI0002C6D522 tolerated_low_confidence(1) benign(0) 2/2 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV NA NA NA NA . CTA . 3771.6 NA NA NA NA NA NA NA NA NA 106116768 IGHV3-20 0 . GRCh38 chr14 106211049 106211049 + Silent SNP T T C rs1397010414 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.240A>G p.Ala80= p.A80= ENST00000390606 2/2 NA NA NA NA NA NA IGHV3-20,synonymous_variant,p.Ala80=,ENST00000390606,;AC247036.1,downstream_gene_variant,,ENST00000605005,;,regulatory_region_variant,,ENSR00000509353,;,regulatory_region_variant,,ENSR00000509354,; C ENSG00000211946 ENST00000390606 Transcript synonymous_variant 302/415 240/353 80/117 A gcA/gcG rs1397010414 1 NA -1 IGHV3-20 HGNC HGNC:5585 IG_V_gene YES ENSP00000375015 A0A0C4DH32.31 UPI0002C6DEE1 2/2 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW NA SNV NA NA NA NA . CTG . 2567.6 NA NA NA NA NA NA NA NA NA 106211049 IGHV3-20 0 . GRCh38 chr14 106211055 106211055 + Silent SNP A A G rs1390193106 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.234T>C p.Gly78= p.G78= ENST00000390606 2/2 NA NA NA NA NA NA IGHV3-20,synonymous_variant,p.Gly78=,ENST00000390606,;AC247036.1,downstream_gene_variant,,ENST00000605005,;,regulatory_region_variant,,ENSR00000509353,;,regulatory_region_variant,,ENSR00000509354,; G ENSG00000211946 ENST00000390606 Transcript synonymous_variant 296/415 234/353 78/117 G ggT/ggC rs1390193106 1 NA -1 IGHV3-20 HGNC HGNC:5585 IG_V_gene YES ENSP00000375015 A0A0C4DH32.31 UPI0002C6DEE1 2/2 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW NA SNV NA NA NA NA . AAC . 2543.6 NA NA NA NA NA NA NA NA NA 106211055 IGHV3-20 0 . GRCh38 chr14 106211059 106211059 + Missense_Mutation SNP G G A rs1159305182 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.230C>T p.Thr77Ile p.T77I ENST00000390606 2/2 NA NA NA NA NA NA IGHV3-20,missense_variant,p.Thr77Ile,ENST00000390606,;AC247036.1,downstream_gene_variant,,ENST00000605005,;,regulatory_region_variant,,ENSR00000509353,;,regulatory_region_variant,,ENSR00000509354,; A ENSG00000211946 ENST00000390606 Transcript missense_variant 292/415 230/353 77/117 T/I aCa/aTa rs1159305182 1 NA -1 IGHV3-20 HGNC HGNC:5585 IG_V_gene YES ENSP00000375015 A0A0C4DH32.31 UPI0002C6DEE1 tolerated_low_confidence(0.14) benign(0.022) 2/2 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE NA SNV NA NA NA NA . TGT . 2604.6 NA NA NA NA NA NA NA NA NA 106211059 IGHV3-20 0 . GRCh38 chr14 106211069 106211069 + Missense_Mutation SNP C C T rs370002041 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.220G>A p.Gly74Ser p.G74S ENST00000390606 2/2 NA NA NA NA NA NA IGHV3-20,missense_variant,p.Gly74Ser,ENST00000390606,;AC247036.1,downstream_gene_variant,,ENST00000605005,;,regulatory_region_variant,,ENSR00000509353,;,regulatory_region_variant,,ENSR00000509354,; T ENSG00000211946 ENST00000390606 Transcript missense_variant 282/415 220/353 74/117 G/S Ggt/Agt rs370002041 1 NA -1 IGHV3-20 HGNC HGNC:5585 IG_V_gene YES ENSP00000375015 A0A0C4DH32.31 UPI0002C6DEE1 tolerated_low_confidence(0.19) benign(0.082) 2/2 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE NA SNV NA NA NA NA . CCA . 2612.6 NA NA NA NA NA NA NA NA NA 106211069 IGHV3-20 0 . GRCh38 chr14 106211077 106211077 + Missense_Mutation SNP T T C rs527699258 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.212A>G p.Asn71Ser p.N71S ENST00000390606 2/2 NA NA NA NA NA NA IGHV3-20,missense_variant,p.Asn71Ser,ENST00000390606,;AC247036.1,downstream_gene_variant,,ENST00000605005,;,regulatory_region_variant,,ENSR00000509353,;,regulatory_region_variant,,ENSR00000509354,; C ENSG00000211946 ENST00000390606 Transcript missense_variant 274/415 212/353 71/117 N/S aAt/aGt rs527699258 1 NA -1 IGHV3-20 HGNC HGNC:5585 IG_V_gene YES ENSP00000375015 A0A0C4DH32.31 UPI0002C6DEE1 tolerated_low_confidence(1) benign(0.001) 2/2 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE NA SNV NA NA NA NA . ATT . 2594.6 NA NA NA NA NA NA NA NA NA 106211077 IGHV3-20 0 . GRCh38 chr14 106211085 106211085 + Silent SNP A A T rs915507882 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.204T>A p.Ser68= p.S68= ENST00000390606 2/2 NA NA NA NA NA NA IGHV3-20,synonymous_variant,p.Ser68=,ENST00000390606,;AC247036.1,downstream_gene_variant,,ENST00000605005,;,regulatory_region_variant,,ENSR00000509353,;,regulatory_region_variant,,ENSR00000509354,; T ENSG00000211946 ENST00000390606 Transcript synonymous_variant 266/415 204/353 68/117 S tcT/tcA rs915507882 1 NA -1 IGHV3-20 HGNC HGNC:5585 IG_V_gene YES ENSP00000375015 A0A0C4DH32.31 UPI0002C6DEE1 2/2 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW NA SNV NA NA NA NA . CAG . 2396.6 NA NA NA NA NA NA NA NA NA 106211085 IGHV3-20 0 . GRCh38 chr14 106211100 106211100 + Silent SNP C C G rs1311116369 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.189G>C p.Gly63= p.G63= ENST00000390606 2/2 NA NA NA NA NA NA IGHV3-20,synonymous_variant,p.Gly63=,ENST00000390606,;AC247036.1,downstream_gene_variant,,ENST00000605005,;,regulatory_region_variant,,ENSR00000509353,;,regulatory_region_variant,,ENSR00000509354,; G ENSG00000211946 ENST00000390606 Transcript synonymous_variant 251/415 189/353 63/117 G ggG/ggC rs1311116369 1 NA -1 IGHV3-20 HGNC HGNC:5585 IG_V_gene YES ENSP00000375015 A0A0C4DH32.31 UPI0002C6DEE1 2/2 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW NA SNV NA NA NA NA . GCC . 1739.6 NA NA NA NA NA NA NA NA NA 106211100 IGHV3-20 0 . GRCh38 chr14 106211118 106211118 + Silent SNP G G C rs200732929 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.171C>G p.Arg57= p.R57= ENST00000390606 2/2 NA NA NA NA NA NA IGHV3-20,synonymous_variant,p.Arg57=,ENST00000390606,;AC247036.1,downstream_gene_variant,,ENST00000605005,;,regulatory_region_variant,,ENSR00000509353,;,regulatory_region_variant,,ENSR00000509354,; C ENSG00000211946 ENST00000390606 Transcript synonymous_variant 233/415 171/353 57/117 R cgC/cgG rs200732929 1 NA -1 IGHV3-20 HGNC HGNC:5585 IG_V_gene YES ENSP00000375015 A0A0C4DH32.31 UPI0002C6DEE1 2/2 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW NA SNV NA NA NA NA . GGC . 765.6 NA NA NA NA NA NA NA NA NA 106211118 IGHV3-21 0 . GRCh38 chr14 106235188 106235188 + Missense_Mutation SNP T T G rs538335553 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.227A>C p.Tyr76Ser p.Y76S ENST00000390607 2/2 NA NA NA NA NA NA IGHV3-21,missense_variant,p.Tyr76Ser,ENST00000390607,;,regulatory_region_variant,,ENSR00000276376,;,regulatory_region_variant,,ENSR00000989851,; G ENSG00000211947 ENST00000390607 Transcript missense_variant 306/430 227/351 76/117 Y/S tAc/tCc rs538335553 1 NA -1 IGHV3-21 HGNC HGNC:5586 IG_V_gene YES ENSP00000375016 A0A0B4J1V1.37 UPI000011AAD7 tolerated_low_confidence(1) benign(0) 2/2 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV NA NA NA 1 . GTA . 483.6 0.0001107 NA NA 0.0003405 NA 6.026e-05 0.0001966 0.0001887 NA 106235188 IGHV3-21 0 . GRCh38 chr14 106235189 106235189 + Missense_Mutation SNP A A T rs782521041 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.226T>A p.Tyr76Asn p.Y76N ENST00000390607 2/2 NA NA NA NA NA NA IGHV3-21,missense_variant,p.Tyr76Asn,ENST00000390607,;,regulatory_region_variant,,ENSR00000276376,;,regulatory_region_variant,,ENSR00000989851,; T ENSG00000211947 ENST00000390607 Transcript missense_variant 305/430 226/351 76/117 Y/N Tac/Aac rs782521041 1 NA -1 IGHV3-21 HGNC HGNC:5586 IG_V_gene YES ENSP00000375016 A0A0B4J1V1.37 UPI000011AAD7 tolerated_low_confidence(0.24) benign(0) 2/2 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV NA NA NA 1 . TAA . 571.64 0.0001019 NA NA 0.0002291 NA 6.039e-05 0.0001872 0.0001903 NA 106235189 IGHV3-21 0 . GRCh38 chr14 106235214 106235214 + Silent SNP G G A rs2338029 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.201C>T p.Val67= p.V67= ENST00000390607 2/2 NA NA NA NA NA NA IGHV3-21,synonymous_variant,p.Val67=,ENST00000390607,;,regulatory_region_variant,,ENSR00000276376,;,regulatory_region_variant,,ENSR00000989851,; A ENSG00000211947 ENST00000390607 Transcript synonymous_variant 280/430 201/351 67/117 V gtC/gtT rs2338029 1 NA -1 IGHV3-21 HGNC HGNC:5586 IG_V_gene YES ENSP00000375016 A0A0B4J1V1.37 UPI000011AAD7 2/2 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV NA NA NA 1 . AGA . 1318.6 7.768e-05 NA NA NA NA NA 5.473e-05 0.0001684 0.0003976 106235214 IGHV3-21 0 . GRCh38 chr14 106235321 106235321 + Missense_Mutation SNP T T G rs189805361 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.94A>C p.Lys32Gln p.K32Q ENST00000390607 2/2 NA NA NA NA NA NA IGHV3-21,missense_variant,p.Lys32Gln,ENST00000390607,;,regulatory_region_variant,,ENSR00000276376,;,regulatory_region_variant,,ENSR00000989851,; G ENSG00000211947 ENST00000390607 Transcript missense_variant 173/430 94/351 32/117 K/Q Aag/Cag rs189805361 1 NA -1 IGHV3-21 HGNC HGNC:5586 IG_V_gene YES ENSP00000375016 A0A0B4J1V1.37 UPI000011AAD7 tolerated_low_confidence(1) benign(0.001) 2/2 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV NA NA NA 1 . TTG . 2126.6 6.903e-05 6.476e-05 NA NA NA NA 0.0001451 NA NA 106235321 IGHV3-21 0 . GRCh38 chr14 106235322 106235322 + Silent SNP G G T rs782550187 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.93C>A p.Val31= p.V31= ENST00000390607 2/2 NA NA NA NA NA NA IGHV3-21,synonymous_variant,p.Val31=,ENST00000390607,;,regulatory_region_variant,,ENSR00000276376,;,regulatory_region_variant,,ENSR00000989851,; T ENSG00000211947 ENST00000390607 Transcript synonymous_variant 172/430 93/351 31/117 V gtC/gtA rs782550187 1 NA -1 IGHV3-21 HGNC HGNC:5586 IG_V_gene YES ENSP00000375016 A0A0B4J1V1.37 UPI000011AAD7 2/2 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV NA NA NA 1 . TGA . 2129.6 9.76e-05 0.000195 2.901e-05 NA NA NA 0.0001818 NA NA 106235322 IGHV3-30 0 . GRCh38 chr14 106335196 106335196 + Silent SNP A A G rs4502119 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.237T>C p.Tyr79= p.Y79= ENST00000603660 2/2 NA NA NA NA NA NA IGHV3-30,synonymous_variant,p.Tyr79=,ENST00000603660,;,regulatory_region_variant,,ENSR00000276386,;,regulatory_region_variant,,ENSR00000989862,;IGHV3-32,upstream_gene_variant,,ENST00000519182,; G ENSG00000270550 ENST00000603660 Transcript synonymous_variant 317/431 237/351 79/117 Y taT/taC rs4502119 1 NA -1 IGHV3-30 HGNC HGNC:5591 IG_V_gene YES ENSP00000474524 P01768.111,P0DP03.17 UPI0002B62496 2/2 NA 0.5968 0.4236 NA 0.5764 0.4095 0.501 0.6056 0.4336 NA NA NA NA LOW 1 SNV NA NA NA NA . CAT . 6961.6 NA NA NA NA NA NA NA NA NA 106335196 IGHV3-30 0 . GRCh38 chr14 106335208 106335208 + Silent SNP A A G rs10148460 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.225T>C p.Ser75= p.S75= ENST00000603660 2/2 NA NA NA NA NA NA IGHV3-30,synonymous_variant,p.Ser75=,ENST00000603660,;,regulatory_region_variant,,ENSR00000276386,;,regulatory_region_variant,,ENSR00000989862,;IGHV3-32,upstream_gene_variant,,ENST00000519182,; G ENSG00000270550 ENST00000603660 Transcript synonymous_variant 305/431 225/351 75/117 S agT/agC rs10148460 1 NA -1 IGHV3-30 HGNC HGNC:5591 IG_V_gene YES ENSP00000474524 P01768.111,P0DP03.17 UPI0002B62496 2/2 NA NA NA NA NA NA NA 0.3878 0.3172 NA NA NA NA LOW 1 SNV NA NA NA NA . TAC . 7366.6 NA NA NA NA NA NA NA NA NA 106335208 IGHV4-31 0 . GRCh38 chr14 106349288 106349288 + Silent SNP G G C rs61740545,rs890944061 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.351C>G p.Ala117= p.A117= ENST00000438142 2/2 NA NA NA NA NA NA IGHV4-31,synonymous_variant,p.Ala117=,ENST00000438142,;,regulatory_region_variant,,ENSR00000276387,;,regulatory_region_variant,,ENSR00000989866,;IGHV3-30-2,upstream_gene_variant,,ENST00000517460,; C ENSG00000231475 ENST00000438142 Transcript synonymous_variant 423/428 351/356 117/118 A gcC/gcG rs61740545,rs890944061 1 NA -1 IGHV4-31 HGNC HGNC:5649 IG_V_gene YES ENSP00000395656 A0A087WSY4.36 UPI00034F23A3 2/2 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV NA NA NA NA . TGG . 16828.6 NA NA NA NA NA NA NA NA NA 106349288 IGHV4-31 0 . GRCh38 chr14 106349318 106349318 + Silent SNP G G A rs1258909762,rs61740532 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.321C>T p.Thr107= p.T107= ENST00000438142 2/2 NA NA NA NA NA NA IGHV4-31,synonymous_variant,p.Thr107=,ENST00000438142,;,regulatory_region_variant,,ENSR00000276387,;,regulatory_region_variant,,ENSR00000989866,;IGHV3-30-2,upstream_gene_variant,,ENST00000517460,;,TF_binding_site_variant,,ENSM00198740021,; A ENSG00000231475 ENST00000438142 Transcript synonymous_variant 393/428 321/356 107/118 T acC/acT rs1258909762,rs61740532 1 NA -1 IGHV4-31 HGNC HGNC:5649 IG_V_gene YES ENSP00000395656 A0A087WSY4.36 UPI00034F23A3 2/2 NA 0.5643 0.8415 NA 0.873 0.8549 0.7464 NA NA NA NA NA NA LOW 1 SNV NA NA NA NA . CGG . 30179.6 NA NA NA NA NA NA NA NA NA 106349318 IGHV4-31 0 . GRCh38 chr14 106349456 106349456 + Silent SNP T T G rs1189985963,rs1555490292,rs201158628,rs779771664,rs796842308 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.183A>C p.Pro61= p.P61= ENST00000438142 2/2 NA NA NA NA NA NA IGHV4-31,synonymous_variant,p.Pro61=,ENST00000438142,;,regulatory_region_variant,,ENSR00000276387,;,regulatory_region_variant,,ENSR00000989866,;IGHV3-30-2,upstream_gene_variant,,ENST00000517460,;IGHVII-30-21,downstream_gene_variant,,ENST00000636897,; G ENSG00000231475 ENST00000438142 Transcript synonymous_variant 255/428 183/356 61/118 P ccA/ccC rs1189985963,rs1555490292,rs201158628,rs779771664,rs796842308 1 NA -1 IGHV4-31 HGNC HGNC:5649 IG_V_gene YES ENSP00000395656 A0A087WSY4.36 UPI00034F23A3 2/2 NA 0.9879 0.9971 NA 1 0.994 0.9806 NA NA NA NA NA NA LOW 1 SNV NA NA NA NA . GTG . 44875.6 NA NA NA NA NA NA NA NA NA 106349456 IGHV4-31 0 . GRCh38 chr14 106349457 106349457 + Missense_Mutation SNP G G T rs746499406,rs77489245 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.182C>A p.Pro61Gln p.P61Q ENST00000438142 2/2 NA NA NA NA NA NA IGHV4-31,missense_variant,p.Pro61Gln,ENST00000438142,;,regulatory_region_variant,,ENSR00000276387,;,regulatory_region_variant,,ENSR00000989866,;IGHV3-30-2,upstream_gene_variant,,ENST00000517460,;IGHVII-30-21,downstream_gene_variant,,ENST00000636897,; T ENSG00000231475 ENST00000438142 Transcript missense_variant 254/428 182/356 61/118 P/Q cCa/cAa rs746499406,rs77489245 1 NA -1 IGHV4-31 HGNC HGNC:5649 IG_V_gene YES ENSP00000395656 A0A087WSY4.36 UPI00034F23A3 deleterious_low_confidence(0.01) possibly_damaging(0.557) 2/2 NA 0.6732 0.928 NA 0.9415 0.9324 0.8926 NA NA NA NA NA NA MODERATE 1 SNV NA NA NA NA . TGG . 30659.6 NA NA NA NA NA NA NA NA NA 106349457 IGHV4-31 0 . GRCh38 chr14 106349462 106349462 + Silent SNP C C G rs1222541826,rs199616126 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.177G>C p.Arg59= p.R59= ENST00000438142 2/2 NA NA NA NA NA NA IGHV4-31,synonymous_variant,p.Arg59=,ENST00000438142,;,regulatory_region_variant,,ENSR00000276387,;,regulatory_region_variant,,ENSR00000989866,;IGHV3-30-2,upstream_gene_variant,,ENST00000517460,;IGHVII-30-21,downstream_gene_variant,,ENST00000636897,; G ENSG00000231475 ENST00000438142 Transcript synonymous_variant 249/428 177/356 59/118 R cgG/cgC rs1222541826,rs199616126 1 NA -1 IGHV4-31 HGNC HGNC:5649 IG_V_gene YES ENSP00000395656 A0A087WSY4.36 UPI00034F23A3 2/2 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV NA NA NA NA . GCC . 44358.6 NA NA NA NA NA NA NA NA NA 106349462 IGHV4-31 0 . GRCh38 chr14 106349478 106349478 + Missense_Mutation SNP G G T rs117757529,rs1461650726 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.161C>A p.Ser54Tyr p.S54Y ENST00000438142 2/2 NA NA NA NA NA NA IGHV4-31,missense_variant,p.Ser54Tyr,ENST00000438142,;,regulatory_region_variant,,ENSR00000276387,;,regulatory_region_variant,,ENSR00000989866,;IGHV3-30-2,upstream_gene_variant,,ENST00000517460,;IGHVII-30-21,downstream_gene_variant,,ENST00000636897,; T ENSG00000231475 ENST00000438142 Transcript missense_variant 233/428 161/356 54/118 S/Y tCc/tAc rs117757529,rs1461650726 1 NA -1 IGHV4-31 HGNC HGNC:5649 IG_V_gene YES ENSP00000395656 A0A087WSY4.36 UPI00034F23A3 tolerated(1) benign(0) 2/2 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV NA NA NA NA . GGA . 41293.6 NA NA NA NA NA NA NA NA NA 106349478 IGHV3-43 0 . GRCh38 chr14 106470288 106470288 + Silent SNP G G C rs113783392 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.330C>G p.Thr110= p.T110= ENST00000434710 2/2 NA NA NA NA NA NA IGHV3-43,synonymous_variant,p.Thr110=,ENST00000434710,;,regulatory_region_variant,,ENSR00000989880,;IGHVII-43-1,downstream_gene_variant,,ENST00000636814,; C ENSG00000232216 ENST00000434710 Transcript synonymous_variant 410/434 330/354 110/118 T acC/acG rs113783392 1 NA -1 IGHV3-43 HGNC HGNC:5604 IG_V_gene YES ENSP00000399826 A0A0B4J1X8.33 UPI000011AACC 2/2 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV NA NA NA NA . CGG . 926.6 4.053e-06 NA NA NA NA NA 9.045e-06 NA NA 106470288 IGHV3-43 0 . GRCh38 chr14 106470333 106470333 + Silent SNP T T C rs1357905017 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.285A>G p.Lys95= p.K95= ENST00000434710 2/2 NA NA NA NA NA NA IGHV3-43,synonymous_variant,p.Lys95=,ENST00000434710,;,regulatory_region_variant,,ENSR00000989880,;IGHVII-43-1,downstream_gene_variant,,ENST00000636814,; C ENSG00000232216 ENST00000434710 Transcript synonymous_variant 365/434 285/354 95/118 K aaA/aaG rs1357905017 1 NA -1 IGHV3-43 HGNC HGNC:5604 IG_V_gene YES ENSP00000399826 A0A0B4J1X8.33 UPI000011AACC 2/2 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV NA NA NA NA . TTT . 1163.6 NA NA NA NA NA NA NA NA NA 106470333 IGHV3-43 0 . GRCh38 chr14 106470337 106470337 + Missense_Mutation SNP C C G rs1395498173 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.281G>C p.Ser94Thr p.S94T ENST00000434710 2/2 NA NA NA NA NA NA IGHV3-43,missense_variant,p.Ser94Thr,ENST00000434710,;,regulatory_region_variant,,ENSR00000989880,;IGHVII-43-1,downstream_gene_variant,,ENST00000636814,; G ENSG00000232216 ENST00000434710 Transcript missense_variant 361/434 281/354 94/118 S/T aGc/aCc rs1395498173 1 NA -1 IGHV3-43 HGNC HGNC:5604 IG_V_gene YES ENSP00000399826 A0A0B4J1X8.33 UPI000011AACC deleterious_low_confidence(0.05) benign(0.015) 2/2 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV NA NA NA NA . GCT . 1155.6 NA NA NA NA NA NA NA NA NA 106470337 IGHV1-46 0 . GRCh38 chr14 106511175 106511175 + Missense_Mutation SNP A A G rs1337425972 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.293T>C p.Val98Ala p.V98A ENST00000390622 2/2 NA NA NA NA NA NA IGHV1-46,missense_variant,p.Val98Ala,ENST00000390622,;IGHV1-45,upstream_gene_variant,,ENST00000390621,;LINC00221,intron_variant,,ENST00000619530,;,regulatory_region_variant,,ENSR00000509427,;IGHVII-46-1,downstream_gene_variant,,ENST00000519794,; G ENSG00000211962 ENST00000390622 Transcript missense_variant 597/655 293/351 98/117 V/A gTc/gCc rs1337425972 1 NA -1 IGHV1-46 HGNC HGNC:5554 IG_V_gene YES ENSP00000375031 P01743.133 UPI0000113ACE tolerated(1) benign(0.003) 2/2 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV NA NA NA NA . GAC . 664.6 NA NA NA NA NA NA NA NA NA 106511175 IGHV1-46 0 . GRCh38 chr14 106511184 106511184 + Missense_Mutation SNP G G A rs782232985 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.284C>T p.Thr95Met p.T95M ENST00000390622 2/2 NA NA NA NA NA NA IGHV1-46,missense_variant,p.Thr95Met,ENST00000390622,;IGHV1-45,upstream_gene_variant,,ENST00000390621,;LINC00221,intron_variant,,ENST00000619530,;,regulatory_region_variant,,ENSR00000509427,;IGHVII-46-1,downstream_gene_variant,,ENST00000519794,; A ENSG00000211962 ENST00000390622 Transcript missense_variant 588/655 284/351 95/117 T/M aCg/aTg rs782232985 1 NA -1 IGHV1-46 HGNC HGNC:5554 IG_V_gene YES ENSP00000375031 P01743.133 UPI0000113ACE tolerated(0.17) benign(0.174) 2/2 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV NA NA NA NA . CGT . 762.6 2.836e-05 NA 2.897e-05 NA 5.563e-05 NA 2.713e-05 NA 6.537e-05 106511184 IGHV1-46 0 . GRCh38 chr14 106511189 106511189 + Silent SNP C C G rs782717921 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.279G>C p.Thr93= p.T93= ENST00000390622 2/2 NA NA NA NA NA NA IGHV1-46,synonymous_variant,p.Thr93=,ENST00000390622,;IGHV1-45,upstream_gene_variant,,ENST00000390621,;LINC00221,intron_variant,,ENST00000619530,;,regulatory_region_variant,,ENSR00000509427,;IGHVII-46-1,downstream_gene_variant,,ENST00000519794,; G ENSG00000211962 ENST00000390622 Transcript synonymous_variant 583/655 279/351 93/117 T acG/acC rs782717921 1 NA -1 IGHV1-46 HGNC HGNC:5554 IG_V_gene YES ENSP00000375031 P01743.133 UPI0000113ACE 2/2 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV NA NA NA NA . ACG . 836.6 NA NA NA NA NA NA NA NA NA 106511189 IGHV1-46 0 . GRCh38 chr14 106511194 106511194 + Missense_Mutation SNP C C T rs938684544 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.274G>A p.Asp92Asn p.D92N ENST00000390622 2/2 NA NA NA NA NA NA IGHV1-46,missense_variant,p.Asp92Asn,ENST00000390622,;IGHV1-45,upstream_gene_variant,,ENST00000390621,;LINC00221,intron_variant,,ENST00000619530,;,regulatory_region_variant,,ENSR00000509427,;IGHVII-46-1,downstream_gene_variant,,ENST00000519794,; T ENSG00000211962 ENST00000390622 Transcript missense_variant 578/655 274/351 92/117 D/N Gac/Aac rs938684544 1 NA -1 IGHV1-46 HGNC HGNC:5554 IG_V_gene YES ENSP00000375031 P01743.133 UPI0000113ACE deleterious(0.01) possibly_damaging(0.737) 2/2 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV NA NA NA NA . TCC . 876.6 NA NA NA NA NA NA NA NA NA 106511194 IGHV1-46 0 . GRCh38 chr14 106511231 106511231 + Silent SNP G G A rs555653722 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.237C>T p.Tyr79= p.Y79= ENST00000390622 2/2 NA NA NA NA NA NA IGHV1-46,synonymous_variant,p.Tyr79=,ENST00000390622,;IGHV1-45,upstream_gene_variant,,ENST00000390621,;LINC00221,intron_variant,,ENST00000619530,;,regulatory_region_variant,,ENSR00000509427,;IGHVII-46-1,downstream_gene_variant,,ENST00000519794,; A ENSG00000211962 ENST00000390622 Transcript synonymous_variant 541/655 237/351 79/117 Y taC/taT rs555653722 1 NA -1 IGHV1-46 HGNC HGNC:5554 IG_V_gene YES ENSP00000375031 P01743.133 UPI0000113ACE 2/2 4e-04 8e-04 NA NA NA 0.001 NA NA NA NA NA NA NA LOW 1 SNV NA NA NA NA . CGT . 225.6 2.026e-05 NA 2.897e-05 NA 5.564e-05 NA 9.045e-06 NA 6.536e-05 106511231 IGHV1-46 0 . GRCh38 chr14 106511236 106511236 + Missense_Mutation SNP T T C rs537857338 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.232A>G p.Ser78Gly p.S78G ENST00000390622 2/2 NA NA NA NA NA NA IGHV1-46,missense_variant,p.Ser78Gly,ENST00000390622,;IGHV1-45,upstream_gene_variant,,ENST00000390621,;LINC00221,intron_variant,,ENST00000619530,;,regulatory_region_variant,,ENSR00000509427,;IGHVII-46-1,downstream_gene_variant,,ENST00000519794,; C ENSG00000211962 ENST00000390622 Transcript missense_variant 536/655 232/351 78/117 S/G Agc/Ggc rs537857338 1 NA -1 IGHV1-46 HGNC HGNC:5554 IG_V_gene YES ENSP00000375031 P01743.133 UPI0000113ACE tolerated(0.36) benign(0.003) 2/2 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV NA NA NA NA . CTT . 148.6 NA NA NA NA NA NA NA NA NA 106511236 IGHV3-48 0 . GRCh38 chr14 106537827 106537827 + Silent SNP A A C rs7147125 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.336T>G p.Val112= p.V112= ENST00000390624 2/2 NA NA NA NA NA NA IGHV3-48,synonymous_variant,p.Val112=,ENST00000390624,;,regulatory_region_variant,,ENSR00000276403,;,regulatory_region_variant,,ENSR00000989885,; C ENSG00000211964 ENST00000390624 Transcript synonymous_variant 415/432 336/353 112/117 V gtT/gtG rs7147125 1 NA -1 IGHV3-48 HGNC HGNC:5606 IG_V_gene YES ENSP00000375033 P01763.117 UPI000011717D 2/2 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV NA NA NA NA . AAA . 12069.03 NA NA NA NA NA NA NA NA NA 106537827 IGHV3-48 0 . GRCh38 chr14 106537884 106537884 + Silent SNP G G A rs7146990 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.279C>T p.Asn93= p.N93= ENST00000390624 2/2 NA NA NA NA NA NA IGHV3-48,synonymous_variant,p.Asn93=,ENST00000390624,;,regulatory_region_variant,,ENSR00000276403,;,regulatory_region_variant,,ENSR00000989885,; A ENSG00000211964 ENST00000390624 Transcript synonymous_variant 358/432 279/353 93/117 N aaC/aaT rs7146990 1 NA -1 IGHV3-48 HGNC HGNC:5606 IG_V_gene YES ENSP00000375033 P01763.117 UPI000011717D 2/2 NA 0.4387 0.5951 NA 0.4395 0.7038 0.454 NA NA NA NA NA NA LOW 1 SNV NA NA NA NA . CGT . 12343.6 NA NA NA NA NA NA NA NA NA 106537884 IGHV3-48 0 . GRCh38 chr14 106537890 106537890 + Silent SNP T T C rs781853818 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.273A>G p.Arg91= p.R91= ENST00000390624 2/2 NA NA NA NA NA NA IGHV3-48,synonymous_variant,p.Arg91=,ENST00000390624,;,regulatory_region_variant,,ENSR00000276403,;,regulatory_region_variant,,ENSR00000989885,; C ENSG00000211964 ENST00000390624 Transcript synonymous_variant 352/432 273/353 91/117 R agA/agG rs781853818 1 NA -1 IGHV3-48 HGNC HGNC:5606 IG_V_gene YES ENSP00000375033 P01763.117 UPI000011717D 2/2 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV NA NA NA NA . CTC . 5933.6 2.455e-05 0.0002626 5.838e-05 NA NA NA NA NA NA 106537890 IGHV3-48 0 . GRCh38 chr14 106537943 106537943 + Missense_Mutation SNP C C T rs7148607 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.220G>A p.Gly74Ser p.G74S ENST00000390624 2/2 NA NA NA NA NA NA IGHV3-48,missense_variant,p.Gly74Ser,ENST00000390624,;,regulatory_region_variant,,ENSR00000276403,;,regulatory_region_variant,,ENSR00000989885,; T ENSG00000211964 ENST00000390624 Transcript missense_variant 299/432 220/353 74/117 G/S Ggt/Agt rs7148607 1 NA -1 IGHV3-48 HGNC HGNC:5606 IG_V_gene YES ENSP00000375033 P01763.117 UPI000011717D tolerated_low_confidence(0.17) benign(0.194) 2/2 NA NA NA NA NA NA NA NA NA 20168990 NA NA NA NA MODERATE 1 SNV NA NA NA NA . CCA . 14265.6 NA NA NA NA NA NA NA NA NA 106537943 IGHV3-48 0 . GRCh38 chr14 106537997 106537997 + Missense_Mutation SNP C C T rs1489637027 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.166G>A p.Val56Ile p.V56I ENST00000390624 2/2 NA NA NA NA NA NA IGHV3-48,missense_variant,p.Val56Ile,ENST00000390624,;,regulatory_region_variant,,ENSR00000276403,;,regulatory_region_variant,,ENSR00000989885,; T ENSG00000211964 ENST00000390624 Transcript missense_variant 245/432 166/353 56/117 V/I Gtc/Atc rs1489637027 1 NA -1 IGHV3-48 HGNC HGNC:5606 IG_V_gene YES ENSP00000375033 P01763.117 UPI000011717D tolerated_low_confidence(0.14) benign(0.194) 2/2 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV NA NA NA NA . ACC . 829.6 NA NA NA NA NA NA NA NA NA 106537997 IGHV3-48 0 . GRCh38 chr14 106538002 106538002 + Missense_Mutation SNP T T C rs782287569 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.161A>G p.Asn54Ser p.N54S ENST00000390624 2/2 NA NA NA NA NA NA IGHV3-48,missense_variant,p.Asn54Ser,ENST00000390624,;,regulatory_region_variant,,ENSR00000276403,; C ENSG00000211964 ENST00000390624 Transcript missense_variant 240/432 161/353 54/117 N/S aAc/aGc rs782287569 1 NA -1 IGHV3-48 HGNC HGNC:5606 IG_V_gene YES ENSP00000375033 P01763.117 UPI000011717D tolerated_low_confidence(1) benign(0.005) 2/2 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV NA NA NA NA . GTT . 548.6 NA NA NA NA NA NA NA NA NA 106538002 IGHV3-48 0 . GRCh38 chr14 106538006 106538007 + Frame_Shift_Ins INS - - GC rs1555530673 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.156_157insGC p.Met53AlafsTer2 p.M53Afs*2 ENST00000390624 2/2 NA NA NA NA NA NA IGHV3-48,frameshift_variant,p.Met53AlafsTer2,ENST00000390624,;,regulatory_region_variant,,ENSR00000276403,; GC ENSG00000211964 ENST00000390624 Transcript frameshift_variant 235-236/432 156-157/353 52-53/117 -/X -/GC rs1555530673 1 NA -1 IGHV3-48 HGNC HGNC:5606 IG_V_gene YES ENSP00000375033 P01763.117 UPI000011717D 2/2 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 insertion NA NA NA NA . ATT . 18499.1 NA NA NA NA NA NA NA NA NA 106538006 IGHV3-48 0 . GRCh38 chr14 106538008 106538009 + Frame_Shift_Del DEL TC TC - rs1454716334 NA HCI-EC-23 NORMAL TC TC NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.154_155del p.Glu52AsnfsTer19 p.E52Nfs*19 ENST00000390624 2/2 NA NA NA NA NA NA IGHV3-48,frameshift_variant,p.Glu52AsnfsTer19,ENST00000390624,;,regulatory_region_variant,,ENSR00000276403,; - ENSG00000211964 ENST00000390624 Transcript frameshift_variant 233-234/432 154-155/353 52/117 E/X GAa/a rs1454716334 1 NA -1 IGHV3-48 HGNC HGNC:5606 IG_V_gene YES ENSP00000375033 P01763.117 UPI000011717D 2/2 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 sequence_alteration NA NA NA NA . TTTCA . 18607.06 NA NA NA NA NA NA NA NA NA 106538007 IGHV3-53 0 . GRCh38 chr14 106592950 106592950 + Missense_Mutation SNP T T A rs2731154 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.76A>T p.Thr26Ser p.T26S ENST00000390627 2/2 NA NA NA NA NA NA IGHV3-53,missense_variant,p.Thr26Ser,ENST00000390627,;,regulatory_region_variant,,ENSR00000276409,;,regulatory_region_variant,,ENSR00000989892,; A ENSG00000211967 ENST00000390627 Transcript missense_variant 297/571 76/350 26/116 T/S Act/Tct rs2731154 1 NA -1 IGHV3-53 HGNC HGNC:5610 IG_V_gene YES ENSP00000375036 P01767.110 UPI00034F23B8 tolerated_low_confidence(1) benign(0) 2/2 NA 0.6233 0.8112 NA 0.997 0.669 0.8344 NA NA NA NA NA NA MODERATE 1 SNV NA NA NA NA . GTC . 1991.6 NA NA NA NA NA NA NA NA NA 106592950 IGHV4-61 0 . GRCh38 chr14 106639293 106639293 + Missense_Mutation SNP G G T rs1268152085 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.182C>A p.Pro61His p.P61H ENST00000390630 2/2 NA NA NA NA NA NA IGHV4-61,missense_variant,p.Pro61His,ENST00000390630,;,regulatory_region_variant,,ENSR00000276414,;,regulatory_region_variant,,ENSR00000989898,;RNA5SP389,downstream_gene_variant,,ENST00000362610,;IGHVII-60-1,upstream_gene_variant,,ENST00000519079,;IGHV3-62,downstream_gene_variant,,ENST00000520057,; T ENSG00000211970 ENST00000390630 Transcript missense_variant 283/457 182/356 61/118 P/H cCc/cAc rs1268152085 1 NA -1 IGHV4-61 HGNC HGNC:5655 IG_V_gene YES ENSP00000375039 A0A0C4DH41.35 UPI000011B546 deleterious_low_confidence(0.03) benign(0.027) 2/2 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV NA NA NA NA . GGG . 3007.6 4.374e-06 7.374e-05 NA NA NA NA NA NA NA 106639293 IGHV4-61 0 . GRCh38 chr14 106639298 106639298 + Silent SNP C C G rs782242993 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.177G>C p.Arg59= p.R59= ENST00000390630 2/2 NA NA NA NA NA NA IGHV4-61,synonymous_variant,p.Arg59=,ENST00000390630,;,regulatory_region_variant,,ENSR00000276414,;,regulatory_region_variant,,ENSR00000989898,;RNA5SP389,downstream_gene_variant,,ENST00000362610,;IGHVII-60-1,upstream_gene_variant,,ENST00000519079,;IGHV3-62,downstream_gene_variant,,ENST00000520057,; G ENSG00000211970 ENST00000390630 Transcript synonymous_variant 278/457 177/356 59/118 R cgG/cgC rs782242993 1 NA -1 IGHV4-61 HGNC HGNC:5655 IG_V_gene YES ENSP00000375039 A0A0C4DH41.35 UPI000011B546 2/2 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV NA NA NA NA . GCC . 3928.6 1.743e-05 0.0002932 NA NA NA NA NA NA NA 106639298 IGHV2-70D 0 . GRCh38 chr14 106723819 106723819 + Missense_Mutation SNP G G A rs1272475467 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.113C>T p.Thr38Ile p.T38I ENST00000390634 2/2 NA NA NA NA NA NA IGHV2-70D,missense_variant,p.Thr38Ile,ENST00000390634,;,regulatory_region_variant,,ENSR00000989910,;IGHV3-69-1,downstream_gene_variant,,ENST00000631386,; A ENSG00000211974 ENST00000390634 Transcript missense_variant 189/434 113/358 38/119 T/I aCa/aTa rs1272475467 1 NA -1 IGHV2-70D HGNC HGNC:49602 IG_V_gene YES ENSP00000375043 A0A0C4DH43.36 UPI0002C6CE0B deleterious(0) possibly_damaging(0.491) 2/2 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV NA NA NA NA . TGT . 78.28 4.053e-05 NA 2.897e-05 9.958e-05 5.566e-05 NA 6.333e-05 NA NA 106723819 IGHV2-70D 0 . GRCh38 chr14 106723845 106723845 + Silent SNP C C T rs1164854877 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.87G>A p.Ala29= p.A29= ENST00000390634 2/2 NA NA NA NA NA NA IGHV2-70D,synonymous_variant,p.Ala29=,ENST00000390634,;,regulatory_region_variant,,ENSR00000989910,;IGHV3-69-1,downstream_gene_variant,,ENST00000631386,; T ENSG00000211974 ENST00000390634 Transcript synonymous_variant 163/434 87/358 29/119 A gcG/gcA rs1164854877 1 NA -1 IGHV2-70D HGNC HGNC:49602 IG_V_gene YES ENSP00000375043 A0A0C4DH43.36 UPI0002C6CE0B 2/2 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV NA NA NA NA . GCG . 67.8 4.864e-05 0.0001292 0.0001449 NA 5.569e-05 NA 1.809e-05 0.0001658 3.268e-05 106723845 IGHV1-69D 0 . GRCh38 chr14 106762382 106762382 + Silent SNP C C G rs1478403490 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.63G>C p.Val21= p.V21= ENST00000624687 2/2 NA NA NA NA NA NA IGHV1-69D,synonymous_variant,p.Val21=,ENST00000624687,;,regulatory_region_variant,,ENSR00000509491,; G ENSG00000280411 ENST00000624687 Transcript synonymous_variant 121/411 63/353 21/117 V gtG/gtC rs1478403490 1 NA -1 IGHV1-69D HGNC HGNC:49601 IG_V_gene YES ENSP00000485152 A0A0B4J2H0.36 UPI0000600BF6 2/2 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV NA NA NA NA . GCA . 498.6 NA NA NA NA NA NA NA NA NA 106762382 IGHV2-70 0 . GRCh38 chr14 106770723 106770723 + Missense_Mutation SNP A A C rs2073669 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.212T>G p.Leu71Arg p.L71R ENST00000617374 2/2 NA NA NA NA NA NA IGHV2-70,missense_variant,p.Leu71Arg,ENST00000617374,;IGHV3-71,downstream_gene_variant,,ENST00000523324,; C ENSG00000274576 ENST00000617374 Transcript missense_variant 212/358 212/358 71/119 L/R cTc/cGc rs2073669 1 NA -1 IGHV2-70 HGNC HGNC:5577 IG_V_gene YES ENSP00000485200 P01814.109 UPI000011AAC1 tolerated(0.36) benign(0.001) 2/2 NA 0.7481 0.3934 NA 0.4196 0.34 0.6697 0.7766 0.5534 NA NA NA NA MODERATE 1 SNV NA NA NA NA . GAG . 8012.6 NA NA NA NA NA NA NA NA NA 106770723 GOLGA6L6 0 . GRCh38 chr15 20534635 20534718 + In_Frame_Del DEL TCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCCCTTATCTTCTCCTCCTGCTTCCACATCTTCTCCTCCTGCTCCTGCCTCTTT TCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCCCTTATCTTCTCCTCCTGCTTCCACATCTTCTCCTCCTGCTCCTGCCTCTTT - novel NA HCI-EC-23 NORMAL TCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCCCTTATCTTCTCCTCCTGCTTCCACATCTTCTCCTCCTGCTCCTGCCTCTTT TCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCCCTTATCTTCTCCTCCTGCTTCCACATCTTCTCCTCCTGCTCCTGCCTCTTT NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1716_1799del p.Arg574_Lys601del p.R574_K601del ENST00000619213 8/9 NA NA NA NA NA NA GOLGA6L6,inframe_deletion,p.Arg574_Lys601del,ENST00000619213,NM_001145004.2; - ENSG00000277322 ENST00000619213 Transcript inframe_deletion 1807-1890/4013 1716-1799/2175 572-600/724 EKRQEQEEKMWKQEEKIREQEEKIREQEE/E gaAAAGAGGCAGGAGCAGGAGGAGAAGATGTGGAAGCAGGAGGAGAAGATAAGGGAGCAGGAGGAGAAGATACGGGAGCAGGAGGAg/gag 1 NA -1 GOLGA6L6 HGNC HGNC:37225 protein_coding YES CCDS45184.1 ENSP00000480376 A8MZA4.78 UPI000442CF04 NM_001145004.2 8/9 Low_complexity_(Seg):seg,MobiDB_lite:mobidb-lite,PANTHER:PTHR23143,PANTHER:PTHR23143,PANTHER:PTHR23143:SF20,PANTHER:PTHR23143:SF20,Coiled-coils_(Ncoils):Coil NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 deletion 5 NA NA NA . TCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCCCTTATCTTCTCCTCCTGCTTCCACATCTTCTCCTCCTGCTCCTGCCTCTTTT . 57.6 NA NA NA NA NA NA NA NA NA 20534634 GOLGA6L6 0 . GRCh38 chr15 20535129 20535129 + Silent SNP A A G rs62001792 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1305T>C p.His435= p.H435= ENST00000619213 8/9 NA NA NA NA NA NA GOLGA6L6,synonymous_variant,p.His435=,ENST00000619213,NM_001145004.2; G ENSG00000277322 ENST00000619213 Transcript synonymous_variant 1396/4013 1305/2175 435/724 H caT/caC rs62001792 1 NA -1 GOLGA6L6 HGNC HGNC:37225 protein_coding YES CCDS45184.1 ENSP00000480376 A8MZA4.78 UPI000442CF04 NM_001145004.2 8/9 Low_complexity_(Seg):seg,MobiDB_lite:mobidb-lite,PANTHER:PTHR23143,PANTHER:PTHR23143:SF20,Coiled-coils_(Ncoils):Coil NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . CAT . 1066.03 NA NA NA NA NA NA NA NA NA 20535129 GOLGA6L6 0 . GRCh38 chr15 20536483 20536483 + Splice_Region SNP C C G rs1310237868 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.603G>C p.Thr201= p.T201= ENST00000619213 7/9 NA NA NA NA NA NA GOLGA6L6,splice_region_variant,p.Thr201=,ENST00000619213,NM_001145004.2; G ENSG00000277322 ENST00000619213 Transcript splice_region_variant,synonymous_variant 694/4013 603/2175 201/724 T acG/acC rs1310237868 1 NA -1 GOLGA6L6 HGNC HGNC:37225 protein_coding YES CCDS45184.1 ENSP00000480376 A8MZA4.78 UPI000442CF04 NM_001145004.2 7/9 PANTHER:PTHR23143,PANTHER:PTHR23143:SF20,Coiled-coils_(Ncoils):Coil NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . TCC . 155.98 NA NA NA NA NA NA NA NA NA 20536483 POTEB3 0 . GRCh38 chr15 21422129 21422129 + Silent SNP G G A rs28552757 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1188C>T p.Ser396= p.S396= ENST00000611217 7/11 NA NA NA NA NA NA POTEB3,synonymous_variant,p.Ser396=,ENST00000611217,NM_207355.5;POTEB3,intron_variant,,ENST00000624267,;POTEB3,downstream_gene_variant,,ENST00000612601,; A ENSG00000278522 ENST00000611217 Transcript synonymous_variant 1676/5816 1188/1746 396/581 S agC/agT rs28552757 1 NA -1 POTEB3 HGNC HGNC:51240 protein_coding YES CCDS73690.1 ENSP00000483103 A0JP26.99 UPI0000197FCA NM_207355.5 7/11 MobiDB_lite:mobidb-lite,PANTHER:PTHR24118,PANTHER:PTHR24118:SF43,Gene3D:1.25.40.20 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . GGC . 169.6 NA NA NA NA NA NA NA NA NA 21422129 LINC02203 0 . GRCh38 chr15 21652711 21652711 + Missense_Mutation SNP A A G rs1253322343 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.777A>G p.Ile259Met p.I259M ENST00000628444 7/7 NA NA NA NA NA NA LINC02203,missense_variant,p.Ile259Met,ENST00000628444,;AC135068.4,missense_variant,p.Ile259Met,ENST00000623441,; G ENSG00000280709 ENST00000628444 Transcript missense_variant 1758/2323 777/951 259/316 I/M atA/atG rs1253322343 1 NA 1 LINC02203 HGNC HGNC:53069 protein_coding YES ENSP00000495705 A0A096LPK9.41 UPI000514C5E0 tolerated(0.22) benign(0.005) 7/7 Gene3D:1.20.1070.10,Pfam:PF13853,PROSITE_profiles:PS50262,PANTHER:PTHR26451,PANTHER:PTHR26451:SF437,Superfamily:SSF81321,CDD:cd15937,Transmembrane_helices:TMhelix NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 2 NA NA NA . TAT . 1531.03 NA NA NA NA NA NA NA NA NA 21652711 AC135068.3 0 . GRCh38 chr15 21742502 21742502 + Missense_Mutation SNP T T C rs1383730878 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.215A>G p.Tyr72Cys p.Y72C ENST00000622410 2/2 NA NA NA NA NA NA AC135068.3,missense_variant,p.Tyr72Cys,ENST00000622410,;,regulatory_region_variant,,ENSR00000276589,;,regulatory_region_variant,,ENSR00000990049,; C ENSG00000278263 ENST00000622410 Transcript missense_variant 215/353 215/353 72/117 Y/C tAt/tGt rs1383730878 1 NA -1 AC135068.3 Clone_based_ensembl_gene IG_V_gene YES ENSP00000479937 A0A087WW49.30 UPI0004E4CCE4 tolerated_low_confidence(0.2) benign(0.011) 2/2 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV NA NA NA NA . ATA . 4318.6 NA NA NA NA NA NA NA NA NA 21742502 TUBGCP5 0 . GRCh38 chr15 23022021 23022021 + Missense_Mutation SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1309C>T p.Leu437Phe p.L437F ENST00000615383 11/23 NA NA NA NA NA NA TUBGCP5,missense_variant,p.Leu437Phe,ENST00000615383,NM_001354377.1,NM_052903.6;TUBGCP5,missense_variant,p.Leu437Phe,ENST00000620435,NM_001354374.2,NM_001354373.2,NM_001354372.2,NM_001354376.2,NM_001354375.2,NM_001102610.1,NM_001354378.1;TUBGCP5,downstream_gene_variant,,ENST00000612085,;TUBGCP5,downstream_gene_variant,,ENST00000622507,;TUBGCP5,non_coding_transcript_exon_variant,,ENST00000615455,;TUBGCP5,missense_variant,p.Leu437Phe,ENST00000614508,; A ENSG00000275835 ENST00000615383 Transcript missense_variant 1335/3744 1309/3075 437/1024 L/F Ctt/Ttt 1 NA -1 TUBGCP5 HGNC HGNC:18600 protein_coding YES CCDS73698.1 ENSP00000480316 Q96RT8.161 UPI000012B2EE NM_001354377.1,NM_052903.6 deleterious(0.01) probably_damaging(0.981) 11/23 PDB-ENSP_mappings:6v69.J,PDB-ENSP_mappings:6v6s.J,Pfam:PF17681,PANTHER:PTHR19302,PANTHER:PTHR19302:SF33 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . AGC . 1653.6 NA NA NA NA NA NA NA NA NA 23022021 GOLGA6L1 0 . GRCh38 chr15 23129607 23129607 + Missense_Mutation SNP A A C rs376186063 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1846T>G p.Trp616Gly p.W616G ENST00000614055 8/9 NA NA NA NA NA NA GOLGA6L1,missense_variant,p.Trp616Gly,ENST00000614055,NM_001001413.3; C ENSG00000273976 ENST00000614055 Transcript missense_variant 1937/3822 1846/2007 616/668 W/G Tgg/Ggg rs376186063 1 NA -1 GOLGA6L1 HGNC HGNC:37444 protein_coding YES CCDS73699.1 ENSP00000478478 Q8N7Z2.103 UPI0001929533 NM_001001413.3 tolerated(0.38) benign(0) 8/9 Coiled-coils_(Ncoils):Coil,PANTHER:PTHR23143,PANTHER:PTHR23143:SF20,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . CAC . 55.6 NA NA NA NA NA NA NA NA NA 23129607 GOLGA6L1 0 . GRCh38 chr15 23129630 23129630 + Missense_Mutation SNP A A G rs761724090 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1823T>C p.Met608Thr p.M608T ENST00000614055 8/9 NA NA NA NA NA NA GOLGA6L1,missense_variant,p.Met608Thr,ENST00000614055,NM_001001413.3; G ENSG00000273976 ENST00000614055 Transcript missense_variant 1914/3822 1823/2007 608/668 M/T aTg/aCg rs761724090 1 NA -1 GOLGA6L1 HGNC HGNC:37444 protein_coding YES CCDS73699.1 ENSP00000478478 Q8N7Z2.103 UPI0001929533 NM_001001413.3 deleterious(0) benign(0.072) 8/9 Coiled-coils_(Ncoils):Coil,PANTHER:PTHR23143,PANTHER:PTHR23143:SF20,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . CAT . 55.6 NA NA NA NA NA NA NA NA NA 23129630 GOLGA6L1 0 . GRCh38 chr15 23129670 23129670 + Missense_Mutation SNP A A G rs200981502 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1783T>C p.Trp595Arg p.W595R ENST00000614055 8/9 NA NA NA NA NA NA GOLGA6L1,missense_variant,p.Trp595Arg,ENST00000614055,NM_001001413.3; G ENSG00000273976 ENST00000614055 Transcript missense_variant 1874/3822 1783/2007 595/668 W/R Tgg/Cgg rs200981502 1 NA -1 GOLGA6L1 HGNC HGNC:37444 protein_coding YES CCDS73699.1 ENSP00000478478 Q8N7Z2.103 UPI0001929533 NM_001001413.3 tolerated(0.27) benign(0.318) 8/9 Coiled-coils_(Ncoils):Coil,PANTHER:PTHR23143,PANTHER:PTHR23143:SF20,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . CAT . 101.6 NA NA NA NA NA NA NA NA NA 23129670 GOLGA6L1 0 . GRCh38 chr15 23129877 23129877 + Silent SNP T T G rs1241117531 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1576A>C p.Arg526= p.R526= ENST00000614055 8/9 NA NA NA NA NA NA GOLGA6L1,synonymous_variant,p.Arg526=,ENST00000614055,NM_001001413.3; G ENSG00000273976 ENST00000614055 Transcript synonymous_variant 1667/3822 1576/2007 526/668 R Agg/Cgg rs1241117531 1 NA -1 GOLGA6L1 HGNC HGNC:37444 protein_coding YES CCDS73699.1 ENSP00000478478 Q8N7Z2.103 UPI0001929533 NM_001001413.3 8/9 Coiled-coils_(Ncoils):Coil,PANTHER:PTHR23143,PANTHER:PTHR23143,PANTHER:PTHR23143:SF20,PANTHER:PTHR23143:SF20,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . CTT . 1306.6 NA NA NA NA NA NA NA NA NA 23129877 GOLGA6L1 0 . GRCh38 chr15 23129901 23129901 + Missense_Mutation SNP T T C rs760766008 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1552A>G p.Met518Val p.M518V ENST00000614055 8/9 NA NA NA NA NA NA GOLGA6L1,missense_variant,p.Met518Val,ENST00000614055,NM_001001413.3; C ENSG00000273976 ENST00000614055 Transcript missense_variant 1643/3822 1552/2007 518/668 M/V Atg/Gtg rs760766008 1 NA -1 GOLGA6L1 HGNC HGNC:37444 protein_coding YES CCDS73699.1 ENSP00000478478 Q8N7Z2.103 UPI0001929533 NM_001001413.3 tolerated(0.07) benign(0.043) 8/9 Coiled-coils_(Ncoils):Coil,PANTHER:PTHR23143,PANTHER:PTHR23143:SF20,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . ATC . 1325.6 NA NA NA NA NA NA NA NA NA 23129901 GOLGA6L1 0 . GRCh38 chr15 23129988 23129989 + In_Frame_Ins INS - - CTC rs71303158 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1462_1464dup p.Glu488dup p.E488dup ENST00000614055 8/9 NA NA NA NA NA NA GOLGA6L1,inframe_insertion,p.Glu488dup,ENST00000614055,NM_001001413.3; CTC ENSG00000273976 ENST00000614055 Transcript inframe_insertion 1555-1556/3822 1464-1465/2007 488-489/668 -/E -/GAG rs71303158 1 NA -1 GOLGA6L1 HGNC HGNC:37444 protein_coding YES CCDS73699.1 ENSP00000478478 Q8N7Z2.103 UPI0001929533 NM_001001413.3 8/9 PANTHER:PTHR23143,PANTHER:PTHR23143:SF20,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 insertion 5 NA NA NA . TTC . 149.64 NA NA NA NA NA NA NA NA NA 23129988 GOLGA6L1 0 . GRCh38 chr15 23130001 23130001 + Missense_Mutation SNP C C T rs1349825048 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1452G>A p.Met484Ile p.M484I ENST00000614055 8/9 NA NA NA NA NA NA GOLGA6L1,missense_variant,p.Met484Ile,ENST00000614055,NM_001001413.3; T ENSG00000273976 ENST00000614055 Transcript missense_variant 1543/3822 1452/2007 484/668 M/I atG/atA rs1349825048 1 NA -1 GOLGA6L1 HGNC HGNC:37444 protein_coding YES CCDS73699.1 ENSP00000478478 Q8N7Z2.103 UPI0001929533 NM_001001413.3 tolerated(0.19) unknown(0) 8/9 PANTHER:PTHR23143,PANTHER:PTHR23143:SF20,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . GCA . 49.6 NA NA NA NA NA NA NA NA NA 23130001 GOLGA6L1 0 . GRCh38 chr15 23136617 23136617 + Missense_Mutation SNP G G C rs75449977 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.115C>G p.Leu39Val p.L39V ENST00000614055 1/9 NA NA NA NA NA NA GOLGA6L1,missense_variant,p.Leu39Val,ENST00000614055,NM_001001413.3;AC116165.1,downstream_gene_variant,,ENST00000611806,; C ENSG00000273976 ENST00000614055 Transcript missense_variant 206/3822 115/2007 39/668 L/V Ctc/Gtc rs75449977 1 NA -1 GOLGA6L1 HGNC HGNC:37444 protein_coding YES CCDS73699.1 ENSP00000478478 Q8N7Z2.103 UPI0001929533 NM_001001413.3 tolerated_low_confidence(0.4) unknown(0) 1/9 PANTHER:PTHR23143,PANTHER:PTHR23143:SF20,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . AGG . 600.6 NA NA NA NA NA NA NA NA NA 23136617 GOLGA6L2 283685 . GRCh38 chr15 23440775 23440776 + In_Frame_Ins INS - - CCGCATCTTCTCCTCCTGCTT rs748500078 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1699_1700insAAGCAGGAGGAGAAGATGCGG p.Ala566_Gly567insGluAlaGlyGlyGluAspAla p.A566_G567insEAGGEDA ENST00000567107 8/8 NA NA NA NA NA NA GOLGA6L2,inframe_insertion,p.Ala566_Gly567insGluAlaGlyGlyGluAspAla,ENST00000567107,NM_001304388.2;GOLGA6L2,intron_variant,,ENST00000312015,;GOLGA6L2,intron_variant,,ENST00000345070,;GOLGA6L2,3_prime_UTR_variant,,ENST00000566571,; CCGCATCTTCTCCTCCTGCTT ENSG00000174450 ENST00000567107 Transcript inframe_insertion 1761-1762/3499 1699-1700/2730 567/909 G/EAGGEDAG gga/gAAGCAGGAGGAGAAGATGCGGga rs748500078 1 NA -1 GOLGA6L2 HGNC HGNC:26695 protein_coding YES CCDS76728.1 ENSP00000454407 Q8N9W4.96 UPI00024672CE NM_001304388.2 8/8 MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 insertion 5 NA NA NA . TCC . 5985.64 NA NA NA NA NA NA NA NA NA 23440775 GABRA5 2558 . GRCh38 chr15 26883398 26883398 + Missense_Mutation SNP G G T novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.338G>T p.Gly113Val p.G113V ENST00000400081 6/11 NA NA NA NA NA NA GABRA5,missense_variant,p.Gly113Val,ENST00000400081,NM_001165037.1;GABRA5,missense_variant,p.Gly113Val,ENST00000335625,NM_000810.4;GABRA5,missense_variant,p.Gly113Val,ENST00000355395,;GABRA5,missense_variant,p.Gly113Val,ENST00000554596,;GABRA5,missense_variant,p.Gly113Val,ENST00000554599,;GABRA5,missense_variant,p.Gly81Val,ENST00000554083,;GABRA5,missense_variant,p.Gly81Val,ENST00000555182,;GABRB3,intron_variant,,ENST00000541819,;GABRA5,downstream_gene_variant,,ENST00000554038,;GABRA5,intron_variant,,ENST00000557449,; T ENSG00000186297 ENST00000400081 Transcript missense_variant 736/2761 338/1389 113/462 G/V gGg/gTg 1 NA 1 GABRA5 HGNC HGNC:4079 protein_coding YES CCDS45194.1 ENSP00000382953 P31644.196 UPI000002D731 NM_001165037.1 deleterious(0) probably_damaging(0.999) 6/11 Gene3D:2.70.170.10,PDB-ENSP_mappings:6a96.A,Pfam:PF02931,Prints:PR01079,PANTHER:PTHR18945,PANTHER:PTHR18945:SF23,Superfamily:SSF63712,TIGRFAM:TIGR00860,CDD:cd19038 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE NA SNV 5 NA NA 1 . GGG . 2992.6 NA NA NA NA NA NA NA NA NA 26883398 HERC2 8924 . GRCh38 chr15 28169516 28169516 + Silent SNP A A G novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.10197T>C p.His3399= p.H3399= ENST00000261609 66/93 NA NA NA NA NA NA HERC2,synonymous_variant,p.His3399=,ENST00000261609,NM_004667.6;HERC2,synonymous_variant,p.His57=,ENST00000569772,;HERC2,synonymous_variant,p.His636=,ENST00000650509,; G ENSG00000128731 ENST00000261609 Transcript synonymous_variant 10333/15364 10197/14505 3399/4834 H caT/caC 1 NA -1 HERC2 HGNC HGNC:4868 protein_coding YES CCDS10021.1 ENSP00000261609 O95714.179 UPI00004578F7 NM_004667.6 66/93 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . TAT . 4028.6 NA NA NA NA NA NA NA NA NA 28169516 GOLGA8F 0 . GRCh38 chr15 28387630 28387630 + Frame_Shift_Del DEL G G - novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1312del p.Glu438ArgfsTer20 p.E438Rfs*20 ENST00000532622 15/19 NA NA NA NA NA NA GOLGA8F,frameshift_variant,p.Glu232ArgfsTer20,ENST00000526619,;GOLGA8F,frameshift_variant,p.Glu438ArgfsTer20,ENST00000532622,NM_001350920.2;RN7SL238P,downstream_gene_variant,,ENST00000613832,;GOLGA8F,downstream_gene_variant,,ENST00000568250,; - ENSG00000153684 ENST00000532622 Transcript frameshift_variant 1406/4170 1308/1911 436/636 E/X gaG/ga 1 NA 1 GOLGA8F HGNC HGNC:32378 protein_coding YES ENSP00000454322 H3BMC3.63 UPI000E6EE5C0 NM_001350920.2 15/19 PANTHER:PTHR10881,PANTHER:PTHR10881:SF62,Pfam:PF15070 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 5 4 NA NA . GAGG . 503.6 NA NA NA NA NA NA NA NA NA 28387629 GOLGA8M 653720 . GRCh38 chr15 28710559 28710559 + Silent SNP C C T rs4421954 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.96G>A p.Ala32= p.A32= ENST00000563027 2/19 NA NA NA NA NA NA GOLGA8M,synonymous_variant,p.Ala32=,ENST00000563027,NM_001282468.1;GOLGA8M,non_coding_transcript_exon_variant,,ENST00000563213,;,regulatory_region_variant,,ENSR00000510824,; T ENSG00000188626 ENST00000563027 Transcript synonymous_variant 96/1899 96/1899 32/632 A gcG/gcA rs4421954 1 NA -1 GOLGA8M HGNC HGNC:44404 protein_coding YES CCDS61572.1 ENSP00000456927 H3BSY2.58 UPI0001A5E7A0 NM_001282468.1 2/19 MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite,PANTHER:PTHR10881,PANTHER:PTHR10881:SF62 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . TCG . 735.6 NA NA NA NA NA NA NA NA NA 28710559 GOLGA8R 101059918 . GRCh38 chr15 30408221 30408221 + Silent SNP C C T rs1236301671 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.753G>A p.Arg251= p.R251= ENST00000327271 10/19 NA NA NA NA NA NA GOLGA8R,synonymous_variant,p.Arg251=,ENST00000327271,NM_001282484.1;RN7SL196P,upstream_gene_variant,,ENST00000614361,;GOLGA8R,downstream_gene_variant,,ENST00000624918,;,regulatory_region_variant,,ENSR00000511242,; T ENSG00000186399 ENST00000327271 Transcript synonymous_variant 753/1896 753/1896 251/631 R cgG/cgA rs1236301671 1 NA -1 GOLGA8R HGNC HGNC:44407 protein_coding YES CCDS61575.1 ENSP00000323217 I6L899.49 UPI0000DD828F NM_001282484.1 10/19 Pfam:PF15070,PANTHER:PTHR10881,PANTHER:PTHR10881:SF62 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . ACC . 402.6 NA NA NA NA NA NA NA NA NA 30408221 GOLGA8H 728498 . GRCh38 chr15 30613109 30613111 + In_Frame_Del DEL GGA GGA - rs770804011 NA HCI-EC-23 NORMAL GGA GGA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1286_1288del p.Gly429del p.G429del ENST00000566740 15/19 NA NA NA NA NA NA GOLGA8H,inframe_deletion,p.Gly429del,ENST00000566740,NM_001282490.1;AC091057.2,downstream_gene_variant,,ENST00000501830,;AC091057.3,upstream_gene_variant,,ENST00000602594,;AC026150.3,upstream_gene_variant,,ENST00000602595,;RN7SL628P,downstream_gene_variant,,ENST00000619139,; - ENSG00000261794 ENST00000566740 Transcript inframe_deletion 1282-1284/1899 1282-1284/1899 428/632 G/- GGA/- rs770804011 1 NA 1 GOLGA8H HGNC HGNC:37443 protein_coding YES CCDS61576.1 ENSP00000456894 P0CJ92.50 UPI0001A5E7A5 NM_001282490.1 15/19 Pfam:PF15070,PANTHER:PTHR10881,PANTHER:PTHR10881:SF62,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE NA deletion 5 4 NA NA . ACGGAG . 201.6 NA NA NA NA NA NA NA NA NA 30613108 OTUD7A 161725 . GRCh38 chr15 31483784 31483784 + Frame_Shift_Del DEL G G - rs1258615864 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2312del p.Pro771ArgfsTer216 p.P771Rfs*216 ENST00000307050 13/13 NA NA NA NA NA NA OTUD7A,frameshift_variant,p.Pro771ArgfsTer216,ENST00000307050,NM_001382637.1,NM_001329907.2;OTUD7A,frameshift_variant,p.Pro764ArgfsTer216,ENST00000560598,NM_130901.3;OTUD7A,frameshift_variant,p.Pro764ArgfsTer216,ENST00000678495,; - ENSG00000169918 ENST00000307050 Transcript frameshift_variant 2578/10964 2312/2802 771/933 P/X cCg/cg rs1258615864 1 NA -1 OTUD7A HGNC HGNC:20718 protein_coding YES ENSP00000305926 Q8TE49.138 UPI0000418DA3 NM_001382637.1,NM_001329907.2 13/13 PANTHER:PTHR13367,PANTHER:PTHR13367:SF9,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 NA NA 1 . CCGG . 575.6 NA NA NA NA NA NA NA NA NA 31483783 OTUD7A 161725 . GRCh38 chr15 31487514 31487514 + Silent SNP T T C novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1224A>G p.Ala408= p.A408= ENST00000307050 11/13 NA NA NA NA NA NA OTUD7A,synonymous_variant,p.Ala408=,ENST00000307050,NM_001382637.1,NM_001329907.2;OTUD7A,synonymous_variant,p.Ala401=,ENST00000560598,NM_130901.3;OTUD7A,synonymous_variant,p.Ala401=,ENST00000678495,; C ENSG00000169918 ENST00000307050 Transcript synonymous_variant 1490/10964 1224/2802 408/933 A gcA/gcG 1 NA -1 OTUD7A HGNC HGNC:20718 protein_coding YES ENSP00000305926 Q8TE49.138 UPI0000418DA3 NM_001382637.1,NM_001329907.2 11/13 PANTHER:PTHR13367,PANTHER:PTHR13367:SF9 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . CTG . 3089.6 NA NA NA NA NA NA NA NA NA 31487514 GOLGA8K 653125 . GRCh38 chr15 32392859 32392859 + Missense_Mutation SNP T T G rs377542868 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1816A>C p.Lys606Gln p.K606Q ENST00000512626 19/19 NA NA NA NA NA NA GOLGA8K,missense_variant,p.Lys606Gln,ENST00000512626,NM_001282493.1;RN7SL185P,downstream_gene_variant,,ENST00000615150,; G ENSG00000249931 ENST00000512626 Transcript missense_variant 1817/1894 1816/1893 606/630 K/Q Aag/Cag rs377542868,COSV68625070 1 NA -1 GOLGA8K HGNC HGNC:38652 protein_coding YES CCDS61577.1 ENSP00000426691 D6RF30.52 UPI0001A5E7CC NM_001282493.1 tolerated(1) benign(0) 19/19 PANTHER:PTHR10881,PANTHER:PTHR10881:SF62,Pfam:PF19046 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 5 NA 0,1 NA NA . TTG . 1773.03 6.57e-05 NA 6e-05 NA NA NA 3.441e-05 NA 0.0002862 32392859 GOLGA8N 643699 . GRCh38 chr15 32603374 32603374 + Missense_Mutation SNP T T C rs746944001 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1475T>C p.Ile492Thr p.I492T ENST00000448387 17/19 NA NA NA NA NA NA GOLGA8N,missense_variant,p.Ile492Thr,ENST00000448387,NM_001282494.1;GOLGA8N,missense_variant,p.Ile456Thr,ENST00000569659,;AC123768.2,intron_variant,,ENST00000613733,;AC123768.2,intron_variant,,ENST00000613931,;AC123768.2,intron_variant,,ENST00000656039,;AC123768.2,downstream_gene_variant,,ENST00000576873,;RN7SL286P,downstream_gene_variant,,ENST00000616519,;GOLGA8N,downstream_gene_variant,,ENST00000605665,;,regulatory_region_variant,,ENSR00000511743,; C ENSG00000232653 ENST00000448387 Transcript missense_variant 1573/5329 1475/1899 492/632 I/T aTc/aCc rs746944001,COSV58838238 1 NA 1 GOLGA8N HGNC HGNC:44405 protein_coding YES CCDS61578.1 ENSP00000398454 F8WBI6.51 UPI0000DD8299 NM_001282494.1 tolerated(0.43) benign(0) 17/19 PANTHER:PTHR10881,PANTHER:PTHR10881:SF62 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 5 NA 0,1 NA NA . ATC . 481.6 NA NA NA NA NA NA NA NA NA 32603374 ARHGAP11A 9824 . GRCh38 chr15 32636432 32636434 + In_Frame_Del DEL TAT TAT - novel NA HCI-EC-23 NORMAL TAT TAT NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1662_1664del p.Ile554del p.I554del ENST00000361627 12/12 NA NA NA NA NA NA ARHGAP11A,inframe_deletion,p.Ile554del,ENST00000361627,NM_014783.6;ARHGAP11A,inframe_deletion,p.Ile365del,ENST00000565905,NM_001286479.2;ARHGAP11A,inframe_deletion,p.Ile365del,ENST00000543522,NM_001286480.3;ARHGAP11A,downstream_gene_variant,,ENST00000562481,;ARHGAP11A,downstream_gene_variant,,ENST00000563864,;ARHGAP11A,downstream_gene_variant,,ENST00000567348,NM_199357.2;AC123768.4,intron_variant,,ENST00000647892,;ARHGAP11A,downstream_gene_variant,,ENST00000564918,; - ENSG00000198826 ENST00000361627 Transcript inframe_deletion 2367-2369/5876 1659-1661/3072 553-554/1023 DI/D gaTATt/gat 1 NA 1 ARHGAP11A HGNC HGNC:15783 protein_coding YES CCDS10028.1 ENSP00000355090 Q6P4F7.136 UPI0000071553 NM_014783.6 12/12 PANTHER:PTHR15670 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 deletion 1 3 NA NA . GATATT . 5842.6 NA NA NA NA NA NA NA NA NA 32636431 RYR3 6263 . GRCh38 chr15 33603288 33603288 + Silent SNP T T G novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2088T>G p.Gly696= p.G696= ENST00000622037 18/105 NA NA NA NA NA NA RYR3,synonymous_variant,p.Gly696=,ENST00000634891,NM_001036.6;RYR3,synonymous_variant,p.Gly696=,ENST00000622037,;RYR3,synonymous_variant,p.Gly696=,ENST00000415757,NM_001243996.3;RYR3,synonymous_variant,p.Gly696=,ENST00000389232,;RYR3,synonymous_variant,p.Gly696=,ENST00000634418,; G ENSG00000198838 ENST00000622037 Transcript synonymous_variant 2158/15564 2088/14622 696/4873 G ggT/ggG 1 NA 1 RYR3 HGNC HGNC:10485 protein_coding YES ENSP00000483166 A0A087X080.41 UPI0004E4CB29 18/105 Gene3D:2.60.120.920,Pfam:PF00622,PROSITE_profiles:PS50188,PANTHER:PTHR12864,PANTHER:PTHR12864:SF46,SMART:SM00449,Superfamily:SSF49899,CDD:cd12877,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA 1 . GTG . 3854.6 NA NA NA NA NA NA NA NA NA 33603288 RYR3 6263 . GRCh38 chr15 33660245 33660245 + Missense_Mutation SNP C C A rs868781603 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4444C>A p.Pro1482Thr p.P1482T ENST00000622037 34/105 NA NA NA NA NA NA RYR3,missense_variant,p.Pro1482Thr,ENST00000634891,NM_001036.6;RYR3,missense_variant,p.Pro1482Thr,ENST00000622037,;RYR3,missense_variant,p.Pro1482Thr,ENST00000415757,NM_001243996.3;RYR3,missense_variant,p.Pro1482Thr,ENST00000389232,;RYR3,missense_variant,p.Pro1482Thr,ENST00000634418,; A ENSG00000198838 ENST00000622037 Transcript missense_variant 4514/15564 4444/14622 1482/4873 P/T Cca/Aca rs868781603 1 NA 1 RYR3 HGNC HGNC:10485 protein_coding YES ENSP00000483166 A0A087X080.41 UPI0004E4CB29 tolerated(0.33) possibly_damaging(0.72) 34/105 PANTHER:PTHR12864,PANTHER:PTHR12864:SF46 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA 1 . CCC . 2755.6 NA NA NA NA NA NA NA NA NA 33660245 NUTM1 256646 . GRCh38 chr15 34355820 34355820 + Silent SNP G G C novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1812G>C p.Pro604= p.P604= ENST00000537011 8/8 NA NA NA NA NA NA NUTM1,synonymous_variant,p.Pro576=,ENST00000614490,NM_175741.2;NUTM1,synonymous_variant,p.Pro604=,ENST00000537011,NM_001284292.2;NUTM1,synonymous_variant,p.Pro594=,ENST00000438749,NM_001284293.1;NUTM1,synonymous_variant,p.Pro576=,ENST00000333756,;LPCAT4,downstream_gene_variant,,ENST00000314891,NM_153613.3;LPCAT4,downstream_gene_variant,,ENST00000617710,;LPCAT4,downstream_gene_variant,,ENST00000563748,;LPCAT4,downstream_gene_variant,,ENST00000567507,; C ENSG00000184507 ENST00000537011 Transcript synonymous_variant 2194/4109 1812/3483 604/1160 P ccG/ccC 1 NA 1 NUTM1 HGNC HGNC:29919 protein_coding YES CCDS61585.1 ENSP00000444896 Q86Y26.114 UPI0002064E63 NM_001284292.2 8/8 PANTHER:PTHR22879,PANTHER:PTHR22879:SF13 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW NA SNV 2 NA NA 1 . CGG . 3978.6 NA NA NA NA NA NA NA NA NA 34355820 NANOGP8 0 . GRCh38 chr15 35085064 35085064 + Missense_Mutation SNP T T G rs2004079 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.47A>C p.Glu16Ala p.E16A ENST00000528386 1/1 NA NA NA NA NA NA NANOGP8,missense_variant,p.Glu16Ala,ENST00000528386,NM_001355281.2;NANOGP8,missense_variant,p.Glu16Ala,ENST00000629403,;,regulatory_region_variant,,ENSR00000512306,;AC021231.3,downstream_gene_variant,,ENST00000558497,; G ENSG00000255192 ENST00000528386 Transcript missense_variant 232/1886 47/918 16/305 E/A gAa/gCa rs2004079 1 NA -1 NANOGP8 HGNC HGNC:23106 protein_coding YES CCDS86444.1 ENSP00000487073 Q6NSW7.128 UPI0000140133 NM_001355281.2 tolerated(1) benign(0) 1/1 PANTHER:PTHR24327:SF71,PANTHER:PTHR24327 NA NA NA NA NA NA NA NA NA 25013402 NA NA NA NA MODERATE 1 SNV NA NA NA NA . TTC . 2764.6 NA NA NA NA NA NA NA NA NA 35085064 PAK6 56924 . GRCh38 chr15 40266259 40266259 + Frame_Shift_Del DEL C C - novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.627del p.Thr210ArgfsTer8 p.T210Rfs*8 ENST00000560346 5/11 NA NA NA NA NA NA PAK6,frameshift_variant,p.Thr210ArgfsTer8,ENST00000455577,NM_001276718.2;PAK6,frameshift_variant,p.Thr210ArgfsTer8,ENST00000560346,;PAK6,frameshift_variant,p.Thr210ArgfsTer8,ENST00000260404,NM_020168.5;PAK6,frameshift_variant,p.Thr210ArgfsTer8,ENST00000441369,NM_001128628.2;PAK6,frameshift_variant,p.Thr210ArgfsTer8,ENST00000558658,;PAK6,frameshift_variant,p.Thr210ArgfsTer8,ENST00000542403,NM_001276717.1;PAK6,frameshift_variant,p.Thr210ArgfsTer8,ENST00000453867,NM_001128629.3;PAK6,frameshift_variant,p.Thr210ArgfsTer8,ENST00000560669,;PAK6,downstream_gene_variant,,ENST00000558055,;PAK6,downstream_gene_variant,,ENST00000558106,;PAK6,downstream_gene_variant,,ENST00000558183,;PAK6,downstream_gene_variant,,ENST00000558878,;PAK6,downstream_gene_variant,,ENST00000559139,;PAK6,downstream_gene_variant,,ENST00000559617,;PAK6,downstream_gene_variant,,ENST00000560684,;PAK6,downstream_gene_variant,,ENST00000560806,;PAK6,downstream_gene_variant,,ENST00000561230,;PAK6,non_coding_transcript_exon_variant,,ENST00000559901,;PAK6,upstream_gene_variant,,ENST00000557926,;BUB1B-PAK6,downstream_gene_variant,,ENST00000559435,;,regulatory_region_variant,,ENSR00000991578,; - ENSG00000137843 ENST00000560346 Transcript frameshift_variant 1205/4020 622/2046 208/681 P/X Ccc/cc 1 NA 1 PAK6 HGNC HGNC:16061 protein_coding YES CCDS10054.1 ENSP00000453858 Q9NQU5.186 A0A024R9Q4.54 UPI0000001C3B 5/11 Low_complexity_(Seg):seg,MobiDB_lite:mobidb-lite,PANTHER:PTHR45832,PANTHER:PTHR45832:SF3 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 5 5 NA NA . CGCC . 3501.6 NA NA NA NA NA NA NA NA NA 40266258 PLCB2 5330 . GRCh38 chr15 40298280 40298281 + Frame_Shift_Ins INS - - G novel NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1097dup p.Asp367Ter p.D367* ENST00000260402 11/32 NA NA NA NA NA NA PLCB2,frameshift_variant,p.Asp367Ter,ENST00000260402,NM_004573.3;PLCB2,frameshift_variant,p.Asp367Ter,ENST00000557821,NM_001284297.2;PLCB2,frameshift_variant,p.Asp367Ter,ENST00000456256,NM_001284298.2;PLCB2,downstream_gene_variant,,ENST00000543785,NM_001284299.2;PLCB2-AS1,upstream_gene_variant,,ENST00000559520,;PLCB2,non_coding_transcript_exon_variant,,ENST00000558588,;PLCB2,upstream_gene_variant,,ENST00000558409,;PLCB2,downstream_gene_variant,,ENST00000560093,;PLCB2,upstream_gene_variant,,ENST00000561378,; G ENSG00000137841 ENST00000260402 Transcript frameshift_variant 1360-1361/4627 1097-1098/3558 366/1185 P/PX cct/ccCt 1 NA -1 PLCB2 HGNC HGNC:9055 protein_coding YES CCDS42020.1 ENSP00000260402 Q00722.190 UPI0000D79B75 NM_004573.3 11/32 PDB-ENSP_mappings:2fju.B,PDB-ENSP_mappings:2zkm.X,Gene3D:3.20.20.190,Pfam:PF00388,PIRSF:PIRSF000956,PROSITE_profiles:PS50007,PANTHER:PTHR10336,PANTHER:PTHR10336:SF10,SMART:SM00148,Superfamily:SSF51695,CDD:cd08624 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 insertion 2 NA NA NA . CAG . 7509.64 NA NA NA NA NA NA NA NA NA 40298280 ITPKA 3706 . GRCh38 chr15 41502076 41502076 + Missense_Mutation SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.883G>A p.Val295Met p.V295M ENST00000260386 4/7 NA NA NA NA NA NA ITPKA,missense_variant,p.Val295Met,ENST00000260386,NM_002220.3;ITPKA,missense_variant,p.Val190Met,ENST00000425927,;LTK,downstream_gene_variant,,ENST00000263800,NM_002344.6;LTK,downstream_gene_variant,,ENST00000355166,NM_206961.4;LTK,downstream_gene_variant,,ENST00000453182,NM_001135685.2;LTK,downstream_gene_variant,,ENST00000561619,;ITPKA,non_coding_transcript_exon_variant,,ENST00000462816,;ITPKA,non_coding_transcript_exon_variant,,ENST00000491007,;LTK,downstream_gene_variant,,ENST00000563518,;LTK,downstream_gene_variant,,ENST00000569283,;,TF_binding_site_variant,,ENSM00525511145,;,TF_binding_site_variant,,ENSM00523559143,;,TF_binding_site_variant,,ENSM00524583859,; A ENSG00000137825 ENST00000260386 Transcript missense_variant 937/1825 883/1386 295/461 V/M Gtg/Atg 1 NA 1 ITPKA HGNC HGNC:6178 protein_coding YES CCDS10076.1 ENSP00000260386 P23677.166 UPI0000049A1A NM_002220.3 deleterious(0.01) probably_damaging(0.965) 4/7 PDB-ENSP_mappings:1w2c.A,PDB-ENSP_mappings:1w2c.B,PDB-ENSP_mappings:1w2d.A,PDB-ENSP_mappings:1w2d.B,PDB-ENSP_mappings:1w2f.A,PDB-ENSP_mappings:1w2f.B,PANTHER:PTHR12400,PANTHER:PTHR12400:SF55,Pfam:PF03770,Gene3D:1.10.510.50,Superfamily:SSF56104 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . GGT . 3865.6 NA NA NA NA NA NA NA NA NA 41502076 LTK 4058 . GRCh38 chr15 41511566 41511566 + Missense_Mutation SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.670G>A p.Glu224Lys p.E224K ENST00000263800 6/20 NA NA NA NA NA NA LTK,missense_variant,p.Glu224Lys,ENST00000263800,NM_002344.6;LTK,missense_variant,p.Glu224Lys,ENST00000355166,NM_206961.4;LTK,missense_variant,p.Glu224Lys,ENST00000453182,NM_001135685.2;LTK,intron_variant,,ENST00000561619,;LTK,non_coding_transcript_exon_variant,,ENST00000563518,;LTK,upstream_gene_variant,,ENST00000569283,;,regulatory_region_variant,,ENSR00000513685,; T ENSG00000062524 ENST00000263800 Transcript missense_variant 788/3072 670/2595 224/864 E/K Gag/Aag 1 NA -1 LTK HGNC HGNC:6721 protein_coding YES CCDS10077.1 ENSP00000263800 P29376.190 UPI000013D463 NM_002344.6 tolerated_low_confidence(0.13) benign(0.273) 6/20 Pfam:PF12810,PANTHER:PTHR24416,PANTHER:PTHR24416:SF294 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . TCG . 1290.6 NA NA NA NA NA NA NA NA NA 41511566 GANC 2595 . GRCh38 chr15 42326424 42326424 + Missense_Mutation SNP G G T novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1420G>T p.Gly474Cys p.G474C ENST00000318010 12/24 NA NA NA NA NA NA GANC,missense_variant,p.Gly474Cys,ENST00000318010,NM_198141.2;GANC,splice_region_variant,,ENST00000567421,;GANC,splice_region_variant,,ENST00000568953,; T ENSG00000214013 ENST00000318010 Transcript missense_variant,splice_region_variant 1660/7781 1420/2745 474/914 G/C Ggt/Tgt 1 NA 1 GANC HGNC HGNC:4139 protein_coding YES CCDS10084.1 ENSP00000326227 Q8TET4.141 UPI00001FE303 NM_198141.2 probably_damaging(1) 12/24 CDD:cd06603,PANTHER:PTHR22762,PANTHER:PTHR22762:SF60,Gene3D:3.20.20.80,Pfam:PF01055,Superfamily:SSF51445 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . AGG . 437.6 NA NA NA NA NA NA NA NA NA 42326424 GANC 2595 . GRCh38 chr15 42327393 42327393 + Missense_Mutation SNP C C A novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1451C>A p.Pro484His p.P484H ENST00000318010 13/24 NA NA NA NA NA NA GANC,missense_variant,p.Pro484His,ENST00000318010,NM_198141.2;GANC,non_coding_transcript_exon_variant,,ENST00000567421,;GANC,non_coding_transcript_exon_variant,,ENST00000568953,; A ENSG00000214013 ENST00000318010 Transcript missense_variant 1691/7781 1451/2745 484/914 P/H cCc/cAc 1 NA 1 GANC HGNC HGNC:4139 protein_coding YES CCDS10084.1 ENSP00000326227 Q8TET4.141 UPI00001FE303 NM_198141.2 probably_damaging(0.965) 13/24 CDD:cd06603,PANTHER:PTHR22762,PANTHER:PTHR22762:SF60,Gene3D:3.20.20.80,Pfam:PF01055,Superfamily:SSF51445 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CCC . 1038.6 NA NA NA NA NA NA NA NA NA 42327393 STARD9 57519 . GRCh38 chr15 42686175 42686175 + Missense_Mutation SNP C C T NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4597C>T p.Pro1533Ser p.P1533S ENST00000290607 23/33 NA NA NA NA NA NA STARD9,missense_variant,p.Pro1533Ser,ENST00000290607,NM_020759.3;STARD9,downstream_gene_variant,,ENST00000569419,;STARD9,downstream_gene_variant,,ENST00000562139,;STARD9,upstream_gene_variant,,ENST00000562619,; T ENSG00000159433 ENST00000290607 Transcript missense_variant 4707/15637 4597/14103 1533/4700 P/S Cca/Tca COSV51906676 1 NA 1 STARD9 HGNC HGNC:19162 protein_coding YES CCDS53935.1 ENSP00000290607 Q9P2P6.146 UPI0001BE8155 NM_020759.3 tolerated(0.11) benign(0.071) 23/33 PANTHER:PTHR47117 NA NA NA NA NA NA NA NA NA 1 NA NA NA NA MODERATE 1 SNV 5 NA 1 NA NA . GCC . 1416.6 NA NA NA NA NA NA NA NA NA 42686175 STARD9 57519 . GRCh38 chr15 42694530 42694530 + Frame_Shift_Del DEL A A - rs771914496 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.12773del p.Lys4258ArgfsTer29 p.K4258Rfs*29 ENST00000290607 24/33 NA NA NA NA NA NA STARD9,frameshift_variant,p.Lys4258ArgfsTer29,ENST00000290607,NM_020759.3;STARD9,3_prime_UTR_variant,,ENST00000562619,; - ENSG00000159433 ENST00000290607 Transcript frameshift_variant,splice_region_variant 12877/15637 12767/14103 4256/4700 Q/X cAa/ca rs771914496 1 NA 1 STARD9 HGNC HGNC:19162 protein_coding YES CCDS53935.1 ENSP00000290607 Q9P2P6.146 UPI0001BE8155 NM_020759.3 24/33 PANTHER:PTHR47117 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 5 6 NA NA . GCAA . 5417.6 NA NA NA NA NA NA NA NA NA 42694529 MFAP1 4236 . GRCh38 chr15 43805379 43805379 + Missense_Mutation SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1134G>A p.Met378Ile p.M378I ENST00000267812 8/9 NA NA NA NA NA NA MFAP1,missense_variant,p.Met378Ile,ENST00000267812,NM_005926.3;HYPK,downstream_gene_variant,,ENST00000406925,;HYPK,downstream_gene_variant,,ENST00000442995,NM_016400.4;HYPK,downstream_gene_variant,,ENST00000458412,NM_001199885.1;HYPK,downstream_gene_variant,,ENST00000497142,;HYPK,downstream_gene_variant,,ENST00000498605,;MFAP1,non_coding_transcript_exon_variant,,ENST00000484386,;SERF2,downstream_gene_variant,,ENST00000409617,;SERF2,downstream_gene_variant,,ENST00000448830,; T ENSG00000140259 ENST00000267812 Transcript missense_variant 1255/2043 1134/1320 378/439 M/I atG/atA 1 NA -1 MFAP1 HGNC HGNC:7032 protein_coding YES CCDS10105.1 ENSP00000267812 P55081.159 UPI000013D770 NM_005926.3 deleterious(0.01) probably_damaging(0.985) 8/9 PDB-ENSP_mappings:5o9z.K,PDB-ENSP_mappings:6ahd.0,PANTHER:PTHR15327,Pfam:PF06991 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . GCA . 4497.6 NA NA NA NA NA NA NA NA NA 43805379 DUOX1 53905 . GRCh38 chr15 45136615 45136615 + Missense_Mutation SNP G G A rs767305748 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1012G>A p.Val338Ile p.V338I ENST00000321429 10/35 NA NA NA NA NA NA DUOX1,missense_variant,p.Val338Ile,ENST00000321429,NM_017434.5;DUOX1,missense_variant,p.Val338Ile,ENST00000389037,NM_175940.3;DUOX1,downstream_gene_variant,,ENST00000558322,;DUOX1,upstream_gene_variant,,ENST00000561166,;DUOX1,missense_variant,p.Val338Ile,ENST00000561220,;DUOX1,upstream_gene_variant,,ENST00000558991,;,regulatory_region_variant,,ENSR00000514432,;,regulatory_region_variant,,ENSR00000992111,;,TF_binding_site_variant,,ENSM00000167815,; A ENSG00000137857 ENST00000321429 Transcript missense_variant 1419/5738 1012/4656 338/1551 V/I Gtc/Atc rs767305748,COSV58479095 1 NA 1 DUOX1 HGNC HGNC:3062 protein_coding YES CCDS32221.1 ENSP00000317997 Q9NRD9.162 UPI000006E50E NM_017434.5 tolerated(0.11) benign(0.065) 10/35 Gene3D:1.10.640.10,Pfam:PF03098,PROSITE_profiles:PS50292,PANTHER:PTHR11972,PANTHER:PTHR11972:SF75,SFLD:SFLDG01169,Superfamily:SSF48113,CDD:cd09820 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 1 NA 0,1 NA NA . CGT . 1985.6 3.979e-06 6.155e-05 NA NA NA NA NA NA NA 45136615 TRPM7 54822 . GRCh38 chr15 50569889 50569889 + Missense_Mutation SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.5465C>T p.Pro1822Leu p.P1822L ENST00000646667 38/39 NA NA NA NA NA NA TRPM7,missense_variant,p.Pro1822Leu,ENST00000646667,NM_017672.6;TRPM7,missense_variant,p.Pro1821Leu,ENST00000560955,NM_001301212.2;TRPM7,missense_variant,p.Pro202Leu,ENST00000561267,;TRPM7,splice_region_variant,,ENST00000561443,;TRPM7,downstream_gene_variant,,ENST00000560516,;,regulatory_region_variant,,ENSR00000515512,; A ENSG00000092439 ENST00000646667 Transcript missense_variant,splice_region_variant 5729/10382 5465/5598 1822/1865 P/L cCa/cTa 1 NA -1 TRPM7 HGNC HGNC:17994 protein_coding YES CCDS42035.1 ENSP00000495860 Q96QT4.161 A0A024R5V1.53 UPI0000071CBA NM_017672.6 tolerated(0.07) possibly_damaging(0.814) 38/39 PROSITE_profiles:PS51158,Gene3D:3.20.200.10,Superfamily:SSF56112 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV NA NA NA 1 . TGG . 59.6 NA NA NA NA NA NA NA NA NA 50569889 TRPM7 54822 . GRCh38 chr15 50592568 50592568 + Frame_Shift_Del DEL T T - novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3667del p.Arg1223AspfsTer6 p.R1223Dfs*6 ENST00000646667 26/39 NA NA NA NA NA NA TRPM7,frameshift_variant,p.Arg1223AspfsTer6,ENST00000646667,NM_017672.6;TRPM7,frameshift_variant,p.Arg1223AspfsTer6,ENST00000560955,NM_001301212.2;TRPM7,downstream_gene_variant,,ENST00000560284,;TRPM7,upstream_gene_variant,,ENST00000645282,; - ENSG00000092439 ENST00000646667 Transcript frameshift_variant 3931/10382 3667/5598 1223/1865 R/X Aga/ga 1 NA -1 TRPM7 HGNC HGNC:17994 protein_coding YES CCDS42035.1 ENSP00000495860 Q96QT4.161 A0A024R5V1.53 UPI0000071CBA NM_017672.6 26/39 PANTHER:PTHR13800:SF8,PANTHER:PTHR13800,Gene3D:1.20.5.1010,Pfam:PF16519 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion NA NA NA 1 . TCTT . 3049.6 NA NA NA NA NA NA NA NA NA 50592567 MYO5C 55930 . GRCh38 chr15 52261021 52261021 + Missense_Mutation SNP A A G rs991089437 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1154T>C p.Val385Ala p.V385A ENST00000261839 10/41 NA NA NA NA NA NA MYO5C,missense_variant,p.Val385Ala,ENST00000261839,NM_018728.4;MYO5C,non_coding_transcript_exon_variant,,ENST00000541028,;MYO5C,missense_variant,p.Val385Ala,ENST00000559459,;MYO5C,3_prime_UTR_variant,,ENST00000560809,;MYO5C,3_prime_UTR_variant,,ENST00000558902,;MYO5C,upstream_gene_variant,,ENST00000558242,; G ENSG00000128833 ENST00000261839 Transcript missense_variant 1322/6977 1154/5229 385/1742 V/A gTg/gCg rs991089437 1 NA -1 MYO5C HGNC HGNC:7604 protein_coding YES CCDS42036.1 ENSP00000261839 Q9NQX4.170 UPI000013D20E NM_018728.4 deleterious(0.01) possibly_damaging(0.696) 10/41 Gene3D:1.20.120.720,Gene3D:3.40.850.10,PDB-ENSP_mappings:4zg4.B,PDB-ENSP_mappings:4zg4.E,PDB-ENSP_mappings:5hmp.A,PDB-ENSP_mappings:5hmp.B,Pfam:PF00063,PROSITE_profiles:PS51456,PANTHER:PTHR13140,PANTHER:PTHR13140:SF313,SMART:SM00242,Superfamily:SSF52540,CDD:cd01380 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CAC . 4975.6 8.014e-06 NA NA NA NA NA 1.766e-05 NA NA 52261021 MNS1 55329 . GRCh38 chr15 56444525 56444525 + Frame_Shift_Del DEL T T - rs549395315 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.605del p.Lys202SerfsTer9 p.K202Sfs*9 ENST00000260453 5/10 NA NA NA NA NA NA MNS1,frameshift_variant,p.Lys202SerfsTer9,ENST00000260453,NM_018365.4;TEX9,intron_variant,,ENST00000352903,NM_198524.2;TEX9,intron_variant,,ENST00000537232,NM_001286449.1;AC084782.3,upstream_gene_variant,,ENST00000612282,; - ENSG00000138587 ENST00000260453 Transcript frameshift_variant 770/2030 605/1488 202/495 K/X aAg/ag rs549395315 1 NA -1 MNS1 HGNC HGNC:29636 protein_coding YES CCDS10158.1 ENSP00000260453 Q8NEH6.115 UPI0000070061 NM_018365.4 5/10 Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,PANTHER:PTHR19265,Pfam:PF13868 NA 0.0076 0.0029 NA NA 0.002 0.0031 NA NA NA NA NA NA HIGH 1 deletion 1 NA NA NA . GCTT . 88.6 NA NA NA NA NA NA NA NA NA 56444524 RNF111 54778 . GRCh38 chr15 59081221 59081221 + Missense_Mutation SNP T T C novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2234T>C p.Leu745Pro p.L745P ENST00000561186 7/13 NA NA NA NA NA NA RNF111,missense_variant,p.Leu745Pro,ENST00000348370,NM_017610.8,NM_001270529.2;RNF111,missense_variant,p.Leu745Pro,ENST00000559209,NM_001270528.2;RNF111,missense_variant,p.Leu745Pro,ENST00000557998,NM_001270530.1;RNF111,missense_variant,p.Leu745Pro,ENST00000561186,NM_001330331.2;RNF111,non_coding_transcript_exon_variant,,ENST00000558977,;RNF111,upstream_gene_variant,,ENST00000559077,;RNF111,upstream_gene_variant,,ENST00000560216,;RNF111,upstream_gene_variant,,ENST00000560952,; C ENSG00000157450 ENST00000561186 Transcript missense_variant 2234/4536 2234/3012 745/1003 L/P cTg/cCg 1 NA 1 RNF111 HGNC HGNC:17384 protein_coding YES CCDS81888.1 ENSP00000453015 Q6ZNA4.160 UPI0001AE6959 NM_001330331.2 deleterious(0) probably_damaging(0.999) 7/13 PANTHER:PTHR16200,PANTHER:PTHR16200:SF4 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 2 NA NA NA . CTG . 3064.6 NA NA NA NA NA NA NA NA NA 59081221 VPS13C 54832 . GRCh38 chr15 61951851 61951851 + Frame_Shift_Del DEL T T - rs756149444 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4429del p.Ile1477LeufsTer24 p.I1477Lfs*24 ENST00000644861 39/85 NA NA NA NA NA NA VPS13C,frameshift_variant,p.Ile1477LeufsTer24,ENST00000645819,NM_001018088.2;VPS13C,frameshift_variant,p.Ile1477LeufsTer24,ENST00000644861,NM_020821.3;VPS13C,frameshift_variant,p.Ile1434LeufsTer24,ENST00000249837,NM_017684.5;VPS13C,frameshift_variant,p.Ile1434LeufsTer24,ENST00000395898,NM_018080.3;VPS13C,downstream_gene_variant,,ENST00000558088,;VPS13C,frameshift_variant,p.Ile104LeufsTer24,ENST00000650094,; - ENSG00000129003 ENST00000644861 Transcript frameshift_variant 4502/13403 4429/11262 1477/3753 I/X Att/tt rs756149444 1 NA -1 VPS13C HGNC HGNC:23594 protein_coding YES CCDS32257.1 ENSP00000493560 Q709C8.130 UPI000023B7D3 NM_020821.3 39/85 PANTHER:PTHR16166,PANTHER:PTHR16166:SF69 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion NA NA NA 1 . AATT . 4289.6 1.633e-05 6.246e-05 3.021e-05 NA NA NA 8.967e-06 NA 3.423e-05 61951850 TLN2 83660 . GRCh38 chr15 62792733 62792733 + Silent SNP A A C novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.5829A>C p.Thr1943= p.T1943= ENST00000561311 45/58 NA NA NA NA NA NA TLN2,synonymous_variant,p.Thr1943=,ENST00000561311,NM_015059.2;TLN2,synonymous_variant,p.Thr968=,ENST00000636159,;TLN2,synonymous_variant,p.Thr857=,ENST00000494733,;TLN2,non_coding_transcript_exon_variant,,ENST00000489129,;,regulatory_region_variant,,ENSR00000518061,; C ENSG00000171914 ENST00000561311 Transcript synonymous_variant 6059/11880 5829/7629 1943/2542 T acA/acC 1 NA 1 TLN2 HGNC HGNC:15447 protein_coding YES CCDS32261.1 ENSP00000453508 Q9Y4G6.191 UPI00001FE5FC NM_015059.2 45/58 Gene3D:1.20.120.230,Pfam:PF08913,PANTHER:PTHR19981,PANTHER:PTHR19981:SF34,Superfamily:SSF47220 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . CAG . 1804.6 NA NA NA NA NA NA NA NA NA 62792733 TLN2 83660 . GRCh38 chr15 62838966 62838966 + Frame_Shift_Del DEL G G - rs1567724119 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.7490del p.Gly2497AlafsTer13 p.G2497Afs*13 ENST00000561311 57/58 NA NA NA NA NA NA TLN2,frameshift_variant,p.Gly2497AlafsTer13,ENST00000561311,NM_015059.2;TLN2,frameshift_variant,p.Gly1522AlafsTer13,ENST00000636159,;TLN2,frameshift_variant,p.Gly1426AlafsTer13,ENST00000494733,;AC103740.1,intron_variant,,ENST00000558404,;AC103740.1,downstream_gene_variant,,ENST00000557994,;AC103740.1,upstream_gene_variant,,ENST00000558888,;AC103740.1,downstream_gene_variant,,ENST00000560963,;TLN2,non_coding_transcript_exon_variant,,ENST00000489129,;TLN2,non_coding_transcript_exon_variant,,ENST00000559174,; - ENSG00000171914 ENST00000561311 Transcript frameshift_variant 7715/11880 7485/7629 2495/2542 V/X gtG/gt rs1567724119,COSV60889591 1 NA 1 TLN2 HGNC HGNC:15447 protein_coding YES CCDS32261.1 ENSP00000453508 Q9Y4G6.191 UPI00001FE5FC NM_015059.2 57/58 Pfam:PF01608,PROSITE_profiles:PS50945,PANTHER:PTHR19981,PANTHER:PTHR19981:SF34,SMART:SM00307,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA HIGH NA deletion 5 5 0,1 NA NA . GTGG . 1890.6 NA NA NA NA NA NA NA NA NA 62838965 OAZ2 4947 . GRCh38 chr15 64689121 64689121 + Silent SNP A A G novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.402T>C p.Tyr134= p.Y134= ENST00000326005 5/6 NA NA NA NA NA NA OAZ2,synonymous_variant,p.Tyr134=,ENST00000326005,NM_001301302.1,NM_002537.3;OAZ2,synonymous_variant,p.Tyr5=,ENST00000559753,;OAZ2,intron_variant,,ENST00000560258,;ZNF609,downstream_gene_variant,,ENST00000326648,NM_015042.2;OAZ2,downstream_gene_variant,,ENST00000559912,;OAZ2,downstream_gene_variant,,ENST00000559555,;OAZ2,downstream_gene_variant,,ENST00000559665,;OAZ2,downstream_gene_variant,,ENST00000560781,;OAZ2,downstream_gene_variant,,ENST00000560837,;OAZ2,non_coding_transcript_exon_variant,,ENST00000558194,;,regulatory_region_variant,,ENSR00000993898,; G ENSG00000180304 ENST00000326005 Transcript synonymous_variant 635/1934 402/570 134/189 Y taT/taC 1 NA -1 OAZ2 HGNC HGNC:8096 protein_coding YES CCDS58372.1 ENSP00000463013 O95190.145 UPI0000130B77 NM_001301302.1,NM_002537.3 5/6 Gene3D:3.40.630.60,Pfam:PF02100,PANTHER:PTHR10279,PANTHER:PTHR10279:SF6,Superfamily:SSF55729 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . CAT . 221.6 NA NA NA NA NA NA NA NA NA 64689121 OAZ2 4947 . GRCh38 chr15 64689130 64689130 + Frame_Shift_Del DEL T T - novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.393del p.Val132Ter p.V132* ENST00000326005 5/6 NA NA NA NA NA NA OAZ2,frameshift_variant,p.Val132Ter,ENST00000326005,NM_001301302.1,NM_002537.3;OAZ2,frameshift_variant,p.Val3Ter,ENST00000559753,;OAZ2,intron_variant,,ENST00000560258,;ZNF609,downstream_gene_variant,,ENST00000326648,NM_015042.2;OAZ2,downstream_gene_variant,,ENST00000559912,;OAZ2,downstream_gene_variant,,ENST00000559555,;OAZ2,downstream_gene_variant,,ENST00000559665,;OAZ2,downstream_gene_variant,,ENST00000560781,;OAZ2,downstream_gene_variant,,ENST00000560837,;OAZ2,non_coding_transcript_exon_variant,,ENST00000558194,;,regulatory_region_variant,,ENSR00000993898,; - ENSG00000180304 ENST00000326005 Transcript frameshift_variant 626/1934 393/570 131/189 K/X aaA/aa 1 NA -1 OAZ2 HGNC HGNC:8096 protein_coding YES CCDS58372.1 ENSP00000463013 O95190.145 UPI0000130B77 NM_001301302.1,NM_002537.3 5/6 Gene3D:3.40.630.60,Pfam:PF02100,PANTHER:PTHR10279,PANTHER:PTHR10279:SF6,Superfamily:SSF55729 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 5 NA NA NA . ACTT . 84.6 NA NA NA NA NA NA NA NA NA 64689129 OAZ2 4947 . GRCh38 chr15 64689135 64689135 + Missense_Mutation SNP T T C novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.388A>G p.Met130Val p.M130V ENST00000326005 5/6 NA NA NA NA NA NA OAZ2,start_lost,p.Met1?,ENST00000559753,;OAZ2,missense_variant,p.Met130Val,ENST00000326005,NM_001301302.1,NM_002537.3;OAZ2,intron_variant,,ENST00000560258,;ZNF609,downstream_gene_variant,,ENST00000326648,NM_015042.2;OAZ2,downstream_gene_variant,,ENST00000559912,;OAZ2,downstream_gene_variant,,ENST00000559555,;OAZ2,downstream_gene_variant,,ENST00000559665,;OAZ2,downstream_gene_variant,,ENST00000560781,;OAZ2,downstream_gene_variant,,ENST00000560837,;OAZ2,non_coding_transcript_exon_variant,,ENST00000558194,;,regulatory_region_variant,,ENSR00000993898,; C ENSG00000180304 ENST00000326005 Transcript missense_variant 621/1934 388/570 130/189 M/V Atg/Gtg 1 NA -1 OAZ2 HGNC HGNC:8096 protein_coding YES CCDS58372.1 ENSP00000463013 O95190.145 UPI0000130B77 NM_001301302.1,NM_002537.3 deleterious(0) benign(0.02) 5/6 Gene3D:3.40.630.60,Pfam:PF02100,PROSITE_patterns:PS01337,PANTHER:PTHR10279,PANTHER:PTHR10279:SF6,Superfamily:SSF55729 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . ATC . 81.6 NA NA NA NA NA NA NA NA NA 64689135 OAZ2 4947 . GRCh38 chr15 64689142 64689142 + Silent SNP T T C novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.381A>G p.Glu127= p.E127= ENST00000326005 5/6 NA NA NA NA NA NA OAZ2,synonymous_variant,p.Glu127=,ENST00000326005,NM_001301302.1,NM_002537.3;OAZ2,5_prime_UTR_variant,,ENST00000559753,;OAZ2,intron_variant,,ENST00000560258,;ZNF609,downstream_gene_variant,,ENST00000326648,NM_015042.2;OAZ2,downstream_gene_variant,,ENST00000559912,;OAZ2,downstream_gene_variant,,ENST00000559555,;OAZ2,downstream_gene_variant,,ENST00000559665,;OAZ2,downstream_gene_variant,,ENST00000560781,;OAZ2,downstream_gene_variant,,ENST00000560837,;OAZ2,non_coding_transcript_exon_variant,,ENST00000558194,;,regulatory_region_variant,,ENSR00000993898,; C ENSG00000180304 ENST00000326005 Transcript synonymous_variant 614/1934 381/570 127/189 E gaA/gaG 1 NA -1 OAZ2 HGNC HGNC:8096 protein_coding YES CCDS58372.1 ENSP00000463013 O95190.145 UPI0000130B77 NM_001301302.1,NM_002537.3 5/6 Gene3D:3.40.630.60,Pfam:PF02100,PROSITE_patterns:PS01337,PANTHER:PTHR10279,PANTHER:PTHR10279:SF6,Superfamily:SSF55729,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . CTT . 320.6 NA NA NA NA NA NA NA NA NA 64689142 PDCD7 10081 . GRCh38 chr15 65129117 65129117 + Frame_Shift_Del DEL T T - novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.924del p.Lys308AsnfsTer18 p.K308Nfs*18 ENST00000204549 2/5 NA NA NA NA NA NA PDCD7,frameshift_variant,p.Lys308AsnfsTer18,ENST00000204549,NM_005707.2;PDCD7,frameshift_variant,p.Lys18AsnfsTer18,ENST00000560313,; - ENSG00000090470 ENST00000204549 Transcript frameshift_variant 951/2823 924/1458 308/485 K/X aaA/aa 1 NA -1 PDCD7 HGNC HGNC:8767 protein_coding YES CCDS10201.1 ENSP00000204549 Q8N8D1.135 Q6IEG3.106 UPI00000731D7 NM_005707.2 2/5 Pfam:PF16021 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 NA NA NA . TGTT . 825.6 NA NA NA NA NA NA NA NA NA 65129116 SMAD6 4091 . GRCh38 chr15 66781132 66781132 + Missense_Mutation SNP G G A rs1186864526 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1088G>A p.Gly363Asp p.G363D ENST00000288840 4/4 NA NA NA NA NA NA SMAD6,missense_variant,p.Gly363Asp,ENST00000288840,NM_005585.5;SMAD6,3_prime_UTR_variant,,ENST00000557916,;SMAD6,3_prime_UTR_variant,,ENST00000559931,; A ENSG00000137834 ENST00000288840 Transcript missense_variant 2111/3828 1088/1491 363/496 G/D gGc/gAc rs1186864526,COSV56594897 1 NA 1 SMAD6 HGNC HGNC:6772 protein_coding YES CCDS10221.1 ENSP00000288840 O43541.190 UPI0000071360 NM_005585.5 deleterious(0) probably_damaging(0.999) 4/4 PROSITE_profiles:PS51076,CDD:cd10499,PANTHER:PTHR13703,PANTHER:PTHR13703:SF28,Pfam:PF03166,Gene3D:2.60.200.10,SMART:SM00524,Superfamily:SSF49879 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 1 NA 0,1 NA 1 . GGC . 3956.6 4.111e-06 NA NA NA NA NA NA NA 3.275e-05 66781132 SMAD6 4091 . GRCh38 chr15 66781334 66781335 + Frame_Shift_Ins INS - - C rs751440011 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1296dup p.Gly433ArgfsTer132 p.G433Rfs*132 ENST00000288840 4/4 NA NA NA NA NA NA SMAD6,frameshift_variant,p.Gly433ArgfsTer132,ENST00000288840,NM_005585.5;SMAD6,downstream_gene_variant,,ENST00000557916,;SMAD6,downstream_gene_variant,,ENST00000559931,; C ENSG00000137834 ENST00000288840 Transcript frameshift_variant 2313-2314/3828 1290-1291/1491 430-431/496 -/X -/C rs751440011 1 NA 1 SMAD6 HGNC HGNC:6772 protein_coding YES CCDS10221.1 ENSP00000288840 O43541.190 UPI0000071360 NM_005585.5 4/4 PROSITE_profiles:PS51076,CDD:cd10499,PANTHER:PTHR13703,PANTHER:PTHR13703:SF28,Pfam:PF03166,Gene3D:2.60.200.10,SMART:SM00524,Superfamily:SSF49879 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 insertion 1 6 NA 1 . TGC . 6327.64 3.09e-05 7.314e-05 2.941e-05 NA NA 6.461e-05 2.982e-05 0.0001762 NA 66781334 PARP6 56965 . GRCh38 chr15 72261590 72261590 + Silent SNP T T C novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.513A>G p.Arg171= p.R171= ENST00000569795 9/24 NA NA NA NA NA NA PARP6,synonymous_variant,p.Arg171=,ENST00000569795,NM_001323522.2,NM_001323531.2,NM_001323521.2,NM_001323524.2,NM_001323516.2,NM_020214.4,NM_001323528.2,NM_001323515.2,NM_001323519.2,NM_001323526.2,NM_001323530.2,NM_001323532.2,NM_001323525.2,NM_001323523.2;PARP6,synonymous_variant,p.Arg171=,ENST00000287196,;PARP6,synonymous_variant,p.Arg171=,ENST00000260376,;PARP6,synonymous_variant,p.Arg171=,ENST00000616176,;PARP6,synonymous_variant,p.Arg124=,ENST00000567974,;PARP6,synonymous_variant,p.Arg171=,ENST00000419739,;PARP6,downstream_gene_variant,,ENST00000568360,;PARP6,upstream_gene_variant,,ENST00000569173,;PARP6,non_coding_transcript_exon_variant,,ENST00000413097,;PARP6,non_coding_transcript_exon_variant,,ENST00000544520,;PARP6,synonymous_variant,p.Arg171=,ENST00000565443,;PARP6,synonymous_variant,p.Arg171=,ENST00000567440,;PARP6,synonymous_variant,p.Arg124=,ENST00000564610,;PARP6,3_prime_UTR_variant,,ENST00000565999,;PARP6,upstream_gene_variant,,ENST00000567263,;PARP6,upstream_gene_variant,,ENST00000569890,; C ENSG00000137817 ENST00000569795 Transcript synonymous_variant 1134/2788 513/1893 171/630 R cgA/cgG 1 NA -1 PARP6 HGNC HGNC:26921 protein_coding YES CCDS10241.2 ENSP00000456348 Q2NL67.117 A0A024R5Z4.48 UPI000067DA73 NM_001323522.2,NM_001323531.2,NM_001323521.2,NM_001323524.2,NM_001323516.2,NM_020214.4,NM_001323528.2,NM_001323515.2,NM_001323519.2,NM_001323526.2,NM_001323530.2,NM_001323532.2,NM_001323525.2,NM_001323523.2 9/24 PANTHER:PTHR21328:SF23,PANTHER:PTHR21328 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . CTC . 168.6 NA NA NA NA NA NA NA NA NA 72261590 GOLGA6B 55889 . GRCh38 chr15 72662702 72662702 + Missense_Mutation SNP C C T rs200978698 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1298C>T p.Ser433Phe p.S433F ENST00000421285 11/18 NA NA NA NA NA NA GOLGA6B,missense_variant,p.Ser433Phe,ENST00000421285,NM_018652.4;RN7SL853P,upstream_gene_variant,,ENST00000617250,;GOLGA6B,downstream_gene_variant,,ENST00000568532,; T ENSG00000215186 ENST00000421285 Transcript missense_variant 1298/2134 1298/2082 433/693 S/F tCc/tTc rs200978698 1 NA 1 GOLGA6B HGNC HGNC:32205 protein_coding YES CCDS10245.2 ENSP00000408132 A6NDN3.81 UPI0000D74C4D NM_018652.4 tolerated(0.19) benign(0) 11/18 PANTHER:PTHR10881:SF44,PANTHER:PTHR10881 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . TCC . 178.6 0.000134 NA 0.0003415 NA NA NA 5.919e-05 0.0006369 0.0002139 72662702 NEIL1 79661 . GRCh38 chr15 75349189 75349189 + Missense_Mutation SNP G G A rs753420865 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.284G>A p.Arg95His p.R95H ENST00000355059 2/10 NA NA NA NA NA NA NEIL1,missense_variant,p.Arg95His,ENST00000355059,NM_024608.4,NM_001352520.2;NEIL1,missense_variant,p.Arg95His,ENST00000564784,;NEIL1,missense_variant,p.Arg95His,ENST00000569035,NM_001256552.1;NEIL1,missense_variant,p.Arg95His,ENST00000565051,;NEIL1,missense_variant,p.Arg95His,ENST00000567657,;NEIL1,missense_variant,p.Arg95His,ENST00000564257,;NEIL1,missense_variant,p.Arg95His,ENST00000567005,;NEIL1,downstream_gene_variant,,ENST00000564500,;NEIL1,downstream_gene_variant,,ENST00000566313,;NEIL1,downstream_gene_variant,,ENST00000566752,;NEIL1,downstream_gene_variant,,ENST00000568059,;NEIL1,downstream_gene_variant,,ENST00000568881,;NEIL1,downstream_gene_variant,,ENST00000569506,;MIR631,downstream_gene_variant,,ENST00000384904,;AC068338.3,upstream_gene_variant,,ENST00000617892,;NEIL1,intron_variant,,ENST00000567959,;NEIL1,downstream_gene_variant,,ENST00000567681,;NEIL1,downstream_gene_variant,,ENST00000569390,;NEIL1,missense_variant,p.Arg95His,ENST00000568519,;NEIL1,non_coding_transcript_exon_variant,,ENST00000561643,;NEIL1,non_coding_transcript_exon_variant,,ENST00000564951,;NEIL1,non_coding_transcript_exon_variant,,ENST00000564738,;NEIL1,upstream_gene_variant,,ENST00000565121,;NEIL1,upstream_gene_variant,,ENST00000567393,;NEIL1,upstream_gene_variant,,ENST00000567547,;,regulatory_region_variant,,ENSR00000079394,; A ENSG00000140398 ENST00000355059 Transcript missense_variant 741/3711 284/1173 95/390 R/H cGc/cAc rs753420865 1 NA 1 NEIL1 HGNC HGNC:18448 protein_coding YES CCDS10278.1 ENSP00000347170 Q96FI4.168 UPI000013D787 NM_024608.4,NM_001352520.2 deleterious(0.01) possibly_damaging(0.556) 2/10 PDB-ENSP_mappings:1tdh.A,PDB-ENSP_mappings:4nrv.A,PDB-ENSP_mappings:5itq.A,PDB-ENSP_mappings:5itr.A,PDB-ENSP_mappings:5itr.B,PDB-ENSP_mappings:5itr.C,PDB-ENSP_mappings:5itt.A,PDB-ENSP_mappings:5itt.B,PDB-ENSP_mappings:5itt.C,PDB-ENSP_mappings:5itu.A,PDB-ENSP_mappings:5itu.B,PDB-ENSP_mappings:5itu.C,PDB-ENSP_mappings:5itx.A,PDB-ENSP_mappings:5itx.B,PDB-ENSP_mappings:5itx.E,PDB-ENSP_mappings:5ity.A,PDB-ENSP_mappings:5ity.B,PDB-ENSP_mappings:5ity.C,PROSITE_profiles:PS51068,CDD:cd08967,PANTHER:PTHR22993,PANTHER:PTHR22993:SF9,Gene3D:3.20.190.10,Pfam:PF01149,SMART:SM00898,Superfamily:SSF81624 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 2 NA NA NA . CGC . 2938.6 8.148e-06 NA NA NA NA NA NA NA 6.545e-05 75349189 SNX33 257364 . GRCh38 chr15 75656992 75656992 + Missense_Mutation SNP G G A rs146422729 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1502G>A p.Arg501His p.R501H ENST00000308527 2/2 NA NA NA NA NA NA SNX33,missense_variant,p.Arg501His,ENST00000308527,NM_153271.2,NM_001318146.1;SNX33,missense_variant,p.Arg210His,ENST00000569152,; A ENSG00000173548 ENST00000308527 Transcript missense_variant 2693/8002 1502/1725 501/574 R/H cGc/cAc rs146422729 1 NA 1 SNX33 HGNC HGNC:28468 protein_coding YES CCDS10283.1 ENSP00000311427 Q8WV41.158 UPI0000073AC2 NM_153271.2,NM_001318146.1 deleterious(0) possibly_damaging(0.873) 2/2 Gene3D:1.20.1270.60,PDB-ENSP_mappings:4akv.A,PDB-ENSP_mappings:4akv.B,Pfam:PF10456,PIRSF:PIRSF027744,PANTHER:PTHR45827,PANTHER:PTHR45827:SF3,CDD:cd07669 NA NA NA NA NA NA NA 0.0006827 NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CGC . 3940.6 2.405e-05 0.0002471 NA NA 5.443e-05 NA 8.922e-06 NA NA 75656992 TMEM266 123591 . GRCh38 chr15 76156636 76156636 + Missense_Mutation SNP G G C rs976221083 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.260G>C p.Arg87Thr p.R87T ENST00000388942 4/11 NA NA NA NA NA NA TMEM266,missense_variant,p.Arg87Thr,ENST00000388942,NM_152335.3;TMEM266,missense_variant,p.Arg87Thr,ENST00000484722,;TMEM266,intron_variant,,ENST00000561302,; C ENSG00000169758 ENST00000388942 Transcript missense_variant 388/2372 260/1596 87/531 R/T aGa/aCa rs976221083 1 NA 1 TMEM266 HGNC HGNC:26763 protein_coding YES CCDS10289.2 ENSP00000373594 Q2M3C6.116 UPI0000DBEE67 NM_152335.3 deleterious(0) possibly_damaging(0.603) 4/11 PANTHER:PTHR46842 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . AGA . 2246.6 4.007e-06 NA NA NA NA NA 8.83e-06 NA NA 76156636 ETFA 2108 . GRCh38 chr15 76225912 76225912 + Silent SNP A A G novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.900T>C p.Asn300= p.N300= ENST00000557943 11/12 NA NA NA NA NA NA ETFA,synonymous_variant,p.Asn300=,ENST00000557943,NM_000126.4;ETFA,synonymous_variant,p.Asn251=,ENST00000433983,NM_001127716.1;ETFA,synonymous_variant,p.Asn40=,ENST00000560726,;ETFA,synonymous_variant,p.Asn277=,ENST00000560595,;ETFA,synonymous_variant,p.Asn204=,ENST00000559973,;ETFA,synonymous_variant,p.Asn196=,ENST00000559602,;Metazoa_SRP,downstream_gene_variant,,ENST00000360440,;ETFA,3_prime_UTR_variant,,ENST00000267950,;ETFA,3_prime_UTR_variant,,ENST00000560899,;ETFA,3_prime_UTR_variant,,ENST00000565910,;ETFA,non_coding_transcript_exon_variant,,ENST00000557975,;ETFA,non_coding_transcript_exon_variant,,ENST00000560179,;TMEM266,intron_variant,,ENST00000561302,;ETFA,downstream_gene_variant,,ENST00000559075,; G ENSG00000140374 ENST00000557943 Transcript synonymous_variant 981/2289 900/1002 300/333 N aaT/aaC 1 NA -1 ETFA HGNC HGNC:3481 protein_coding YES CCDS32299.1 ENSP00000452762 P13804.214 A0A0S2Z3L0.25 UPI0000001BC8 NM_000126.4 11/12 PDB-ENSP_mappings:1efv.A,PDB-ENSP_mappings:1t9g.R,PDB-ENSP_mappings:2a1t.R,PDB-ENSP_mappings:2a1u.A,PANTHER:PTHR43153:SF1,PANTHER:PTHR43153,PROSITE_patterns:PS00696,PIRSF:PIRSF000089,Gene3D:3.40.50.1220,Superfamily:SSF52467 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . TAT . 138.6 NA NA NA NA NA NA NA NA NA 76225912 ETFA 2108 . GRCh38 chr15 76225918 76225918 + Silent SNP T T A novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.894A>T p.Ala298= p.A298= ENST00000557943 11/12 NA NA NA NA NA NA ETFA,synonymous_variant,p.Ala298=,ENST00000557943,NM_000126.4;ETFA,synonymous_variant,p.Ala249=,ENST00000433983,NM_001127716.1;ETFA,synonymous_variant,p.Ala38=,ENST00000560726,;ETFA,synonymous_variant,p.Ala275=,ENST00000560595,;ETFA,synonymous_variant,p.Ala202=,ENST00000559973,;ETFA,synonymous_variant,p.Ala194=,ENST00000559602,;Metazoa_SRP,downstream_gene_variant,,ENST00000360440,;ETFA,3_prime_UTR_variant,,ENST00000267950,;ETFA,3_prime_UTR_variant,,ENST00000560899,;ETFA,3_prime_UTR_variant,,ENST00000565910,;ETFA,non_coding_transcript_exon_variant,,ENST00000557975,;ETFA,non_coding_transcript_exon_variant,,ENST00000560179,;TMEM266,intron_variant,,ENST00000561302,;ETFA,downstream_gene_variant,,ENST00000559075,; A ENSG00000140374 ENST00000557943 Transcript synonymous_variant 975/2289 894/1002 298/333 A gcA/gcT 1 NA -1 ETFA HGNC HGNC:3481 protein_coding YES CCDS32299.1 ENSP00000452762 P13804.214 A0A0S2Z3L0.25 UPI0000001BC8 NM_000126.4 11/12 PDB-ENSP_mappings:1efv.A,PDB-ENSP_mappings:1t9g.R,PDB-ENSP_mappings:2a1t.R,PDB-ENSP_mappings:2a1u.A,PANTHER:PTHR43153:SF1,PANTHER:PTHR43153,PROSITE_patterns:PS00696,PIRSF:PIRSF000089,Gene3D:3.40.50.1220,Superfamily:SSF52467 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . TTG . 150.6 NA NA NA NA NA NA NA NA NA 76225918 TBC1D2B 23102 . GRCh38 chr15 78012961 78012961 + Missense_Mutation SNP T T C novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2132A>G p.Glu711Gly p.E711G ENST00000300584 9/13 NA NA NA NA NA NA TBC1D2B,missense_variant,p.Glu711Gly,ENST00000409931,NM_015079.6;TBC1D2B,missense_variant,p.Glu711Gly,ENST00000300584,NM_144572.1;TBC1D2B,non_coding_transcript_exon_variant,,ENST00000472786,;,regulatory_region_variant,,ENSR00000522355,; C ENSG00000167202 ENST00000300584 Transcript missense_variant 2132/6067 2132/2892 711/963 E/G gAg/gGg 1 NA -1 TBC1D2B HGNC HGNC:29183 protein_coding YES CCDS45314.1 ENSP00000300584 Q9UPU7.142 UPI0000E02247 NM_144572.1 deleterious(0) probably_damaging(0.999) 9/13 PROSITE_profiles:PS50086,PANTHER:PTHR22957,PANTHER:PTHR22957:SF506,Pfam:PF00566,Gene3D:1.10.8.270,SMART:SM00164,Superfamily:SSF47923 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . CTC . 4590.6 NA NA NA NA NA NA NA NA NA 78012961 ACSBG1 23205 . GRCh38 chr15 78178759 78178759 + Silent SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1557C>T p.Cys519= p.C519= ENST00000258873 11/14 NA NA NA NA NA NA ACSBG1,synonymous_variant,p.Cys519=,ENST00000258873,NM_001199377.2,NM_015162.5;ACSBG1,synonymous_variant,p.Cys277=,ENST00000560817,;ACSBG1,downstream_gene_variant,,ENST00000559114,;ACSBG1,downstream_gene_variant,,ENST00000559241,;ACSBG1,3_prime_UTR_variant,,ENST00000560124,;ACSBG1,downstream_gene_variant,,ENST00000557935,;ACSBG1,downstream_gene_variant,,ENST00000558301,;ACSBG1,downstream_gene_variant,,ENST00000558728,;ACSBG1,downstream_gene_variant,,ENST00000559707,;ACSBG1,upstream_gene_variant,,ENST00000560183,; A ENSG00000103740 ENST00000258873 Transcript synonymous_variant 1621/6215 1557/2175 519/724 C tgC/tgT 1 NA -1 ACSBG1 HGNC HGNC:29567 protein_coding YES CCDS10298.1 ENSP00000258873 Q96GR2.148 UPI000006E955 NM_001199377.2,NM_015162.5 11/14 Gene3D:3.40.50.12780,Pfam:PF00501,PANTHER:PTHR24096,PANTHER:PTHR24096:SF296,Superfamily:SSF56801,CDD:cd05933 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . GGC . 1693.6 NA NA NA NA NA NA NA NA NA 78178759 ADAMTS7 11173 . GRCh38 chr15 78777504 78777504 + Silent SNP A A G novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1407T>C p.Asp469= p.D469= ENST00000388820 9/24 NA NA NA NA NA NA ADAMTS7,synonymous_variant,p.Asp469=,ENST00000388820,NM_014272.5;ADAMTS7,intron_variant,,ENST00000566303,;ADAMTS7,non_coding_transcript_exon_variant,,ENST00000565793,;ADAMTS7,non_coding_transcript_exon_variant,,ENST00000568712,;,regulatory_region_variant,,ENSR00000522582,; G ENSG00000136378 ENST00000388820 Transcript synonymous_variant 1651/5520 1407/5061 469/1686 D gaT/gaC 1 NA -1 ADAMTS7 HGNC HGNC:223 protein_coding YES CCDS32303.1 ENSP00000373472 Q9UKP4.176 UPI00002263B3 NM_014272.5 9/24 Gene3D:3.40.390.10,Pfam:PF17771,PANTHER:PTHR13723,PANTHER:PTHR13723:SF142 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . CAT . 4462.6 NA NA NA NA NA NA NA NA NA 78777504 GOLGA6L10 0 . GRCh38 chr15 82345087 82345087 + Missense_Mutation SNP C C T rs77281226 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.773G>A p.Arg258His p.R258H ENST00000610657 6/9 NA NA NA NA NA NA GOLGA6L10,missense_variant,p.Arg258His,ENST00000610657,NM_001164465.3;GOLGA6L10,splice_region_variant,,ENST00000619556,;GOLGA6L10,intron_variant,,ENST00000621197,;GOLGA6L10,downstream_gene_variant,,ENST00000558035,;,regulatory_region_variant,,ENSR00000523560,; T ENSG00000278662 ENST00000610657 Transcript missense_variant 873/4452 773/1569 258/522 R/H cGt/cAt rs77281226 1 NA -1 GOLGA6L10 HGNC HGNC:37228 protein_coding YES CCDS45325.2 ENSP00000479362 A6NI86.82 UPI0003EAF95A NM_001164465.3 tolerated(0.47) benign(0.042) 6/9 Coiled-coils_(Ncoils):Coil,PANTHER:PTHR23143,PANTHER:PTHR23143:SF19,Low_complexity_(Seg):seg NA 0.8956 0.9755 NA 0.9812 0.9771 0.9877 NA NA NA NA NA NA MODERATE 1 SNV 2 NA NA NA . ACG . 2116.6 NA NA NA NA NA NA NA NA NA 82345087 GOLGA6L9 647042 . GRCh38 chr15 82430096 82430096 + Missense_Mutation SNP G G A rs1352817108 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.17G>A p.Arg6His p.R6H ENST00000618348 1/9 NA NA NA NA NA NA GOLGA6L9,missense_variant,p.Arg6His,ENST00000618348,NM_198181.3,NM_001291420.1;AC243919.2,intron_variant,,ENST00000613086,;GOLGA6L9,non_coding_transcript_exon_variant,,ENST00000618706,;GOLGA6L9,non_coding_transcript_exon_variant,,ENST00000558668,;,regulatory_region_variant,,ENSR00000523583,;,regulatory_region_variant,,ENSR00000996027,; A ENSG00000197978 ENST00000618348 Transcript missense_variant 77/1710 17/1299 6/432 R/H cGc/cAc rs1352817108 1 NA 1 GOLGA6L9 HGNC HGNC:37229 protein_coding YES CCDS45326.1 ENSP00000481078 A6NEM1.93 UPI000442D01A NM_198181.3,NM_001291420.1 tolerated(0.52) benign(0.03) 1/9 PANTHER:PTHR23143,PANTHER:PTHR23143:SF19,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . CGC . 940.6 NA NA NA NA NA NA NA NA NA 82430096 GOLGA6L9 647042 . GRCh38 chr15 82431921 82431921 + Missense_Mutation SNP C C T rs1228564009 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.176C>T p.Thr59Ile p.T59I ENST00000618348 2/9 NA NA NA NA NA NA GOLGA6L9,missense_variant,p.Thr59Ile,ENST00000618348,NM_198181.3,NM_001291420.1;AC243919.2,non_coding_transcript_exon_variant,,ENST00000613086,;GOLGA6L9,non_coding_transcript_exon_variant,,ENST00000618706,;GOLGA6L9,non_coding_transcript_exon_variant,,ENST00000558668,; T ENSG00000197978 ENST00000618348 Transcript missense_variant 236/1710 176/1299 59/432 T/I aCt/aTt rs1228564009 1 NA 1 GOLGA6L9 HGNC HGNC:37229 protein_coding YES CCDS45326.1 ENSP00000481078 A6NEM1.93 UPI000442D01A NM_198181.3,NM_001291420.1 deleterious(0.03) probably_damaging(0.948) 2/9 PANTHER:PTHR23143,PANTHER:PTHR23143:SF19,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . ACT . 3789.6 NA NA NA NA NA NA NA NA NA 82431921 GOLGA6L9 647042 . GRCh38 chr15 82434075 82434075 + Missense_Mutation SNP A A G rs62011763 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.475A>G p.Met159Val p.M159V ENST00000618348 6/9 NA NA NA NA NA NA GOLGA6L9,missense_variant,p.Met159Val,ENST00000618348,NM_198181.3,NM_001291420.1;AC243919.2,non_coding_transcript_exon_variant,,ENST00000613086,;GOLGA6L9,non_coding_transcript_exon_variant,,ENST00000618706,;GOLGA6L9,downstream_gene_variant,,ENST00000558668,; G ENSG00000197978 ENST00000618348 Transcript missense_variant 535/1710 475/1299 159/432 M/V Atg/Gtg rs62011763 1 NA 1 GOLGA6L9 HGNC HGNC:37229 protein_coding YES CCDS45326.1 ENSP00000481078 A6NEM1.93 UPI000442D01A NM_198181.3,NM_001291420.1 tolerated(1) benign(0.005) 6/9 Coiled-coils_(Ncoils):Coil,Pfam:PF15070,PANTHER:PTHR23143,PANTHER:PTHR23143:SF19 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . GAT . 2488.6 NA NA NA NA NA NA NA NA NA 82434075 GOLGA6L9 647042 . GRCh38 chr15 82434266 82434266 + Silent SNP G G A rs1456432516 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.666G>A p.Leu222= p.L222= ENST00000618348 6/9 NA NA NA NA NA NA GOLGA6L9,synonymous_variant,p.Leu222=,ENST00000618348,NM_198181.3,NM_001291420.1;AC243919.2,downstream_gene_variant,,ENST00000613086,;GOLGA6L9,non_coding_transcript_exon_variant,,ENST00000618706,;GOLGA6L9,downstream_gene_variant,,ENST00000558668,;,regulatory_region_variant,,ENSR00000523585,;,regulatory_region_variant,,ENSR00000523586,; A ENSG00000197978 ENST00000618348 Transcript synonymous_variant 726/1710 666/1299 222/432 L ctG/ctA rs1456432516,COSV62203660 1 NA 1 GOLGA6L9 HGNC HGNC:37229 protein_coding YES CCDS45326.1 ENSP00000481078 A6NEM1.93 UPI000442D01A NM_198181.3,NM_001291420.1 6/9 Coiled-coils_(Ncoils):Coil,PANTHER:PTHR23143,PANTHER:PTHR23143:SF19,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA LOW 1 SNV 5 NA 0,1 NA NA . TGT . 810.6 NA NA NA NA NA NA NA NA NA 82434266 GOLGA6L9 647042 . GRCh38 chr15 82434267 82434267 + Missense_Mutation SNP T T C rs1356529737 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.667T>C p.Cys223Arg p.C223R ENST00000618348 6/9 NA NA NA NA NA NA GOLGA6L9,missense_variant,p.Cys223Arg,ENST00000618348,NM_198181.3,NM_001291420.1;AC243919.2,downstream_gene_variant,,ENST00000613086,;GOLGA6L9,non_coding_transcript_exon_variant,,ENST00000618706,;GOLGA6L9,downstream_gene_variant,,ENST00000558668,;,regulatory_region_variant,,ENSR00000523585,;,regulatory_region_variant,,ENSR00000523586,; C ENSG00000197978 ENST00000618348 Transcript missense_variant 727/1710 667/1299 223/432 C/R Tgt/Cgt rs1356529737,COSV62203668 1 NA 1 GOLGA6L9 HGNC HGNC:37229 protein_coding YES CCDS45326.1 ENSP00000481078 A6NEM1.93 UPI000442D01A NM_198181.3,NM_001291420.1 tolerated(0.37) benign(0.003) 6/9 Coiled-coils_(Ncoils):Coil,PANTHER:PTHR23143,PANTHER:PTHR23143:SF19,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 5 NA 0,1 NA NA . GTG . 1136.6 NA NA NA NA NA NA NA NA NA 82434267 GOLGA6L4 0 . GRCh38 chr15 84240188 84240188 + Silent SNP A A G rs1484848659 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.834A>G p.Leu278= p.L278= ENST00000510439 6/9 NA NA NA NA NA NA GOLGA6L4,synonymous_variant,p.Leu278=,ENST00000510439,NM_001267536.3;GOLGA6L4,intron_variant,,ENST00000422563,;GOLGA6L4,intron_variant,,ENST00000512109,;GOLGA6L4,non_coding_transcript_exon_variant,,ENST00000515814,;GOLGA6L4,upstream_gene_variant,,ENST00000379674,;,regulatory_region_variant,,ENSR00000524013,;,regulatory_region_variant,,ENSR00000524014,; G ENSG00000184206 ENST00000510439 Transcript synonymous_variant 896/4553 834/1725 278/574 L ctA/ctG rs1484848659 1 NA 1 GOLGA6L4 HGNC HGNC:27256 protein_coding YES CCDS73774.1 ENSP00000421586 A6NEF3.73 UPI00006C155D NM_001267536.3 6/9 Coiled-coils_(Ncoils):Coil,PANTHER:PTHR23143,PANTHER:PTHR23143,PANTHER:PTHR23143:SF19,PANTHER:PTHR23143:SF19,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . TAC . 110.6 9.383e-05 NA 9.36e-05 NA 0.0001276 NA 0.000153 NA NA 84240188 GOLGA6L4 0 . GRCh38 chr15 84240189 84240189 + Missense_Mutation SNP C C T rs1171360296 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.835C>T p.Arg279Cys p.R279C ENST00000510439 6/9 NA NA NA NA NA NA GOLGA6L4,missense_variant,p.Arg279Cys,ENST00000510439,NM_001267536.3;GOLGA6L4,intron_variant,,ENST00000422563,;GOLGA6L4,intron_variant,,ENST00000512109,;GOLGA6L4,non_coding_transcript_exon_variant,,ENST00000515814,;GOLGA6L4,upstream_gene_variant,,ENST00000379674,;,regulatory_region_variant,,ENSR00000524013,;,regulatory_region_variant,,ENSR00000524014,; T ENSG00000184206 ENST00000510439 Transcript missense_variant 897/4553 835/1725 279/574 R/C Cgt/Tgt rs1171360296,COSV65606916 1 NA 1 GOLGA6L4 HGNC HGNC:27256 protein_coding YES CCDS73774.1 ENSP00000421586 A6NEF3.73 UPI00006C155D NM_001267536.3 tolerated(0.12) benign(0.034) 6/9 Coiled-coils_(Ncoils):Coil,PANTHER:PTHR23143,PANTHER:PTHR23143,PANTHER:PTHR23143:SF19,PANTHER:PTHR23143:SF19,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 5 NA 0,1 NA NA . ACG . 85.6 9.529e-05 NA 9.413e-05 NA 0.000128 NA 0.0001574 NA NA 84240189 ZNF592 9640 . GRCh38 chr15 84799871 84799871 + Missense_Mutation SNP C C A novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3167C>A p.Pro1056His p.P1056H ENST00000560079 10/11 NA NA NA NA NA NA ZNF592,missense_variant,p.Pro1056His,ENST00000560079,NM_014630.3;ZNF592,missense_variant,p.Pro1056His,ENST00000299927,;ZNF592,upstream_gene_variant,,ENST00000618477,;ZNF592,3_prime_UTR_variant,,ENST00000559607,; A ENSG00000166716 ENST00000560079 Transcript missense_variant 3498/8187 3167/3804 1056/1267 P/H cCt/cAt 1 NA 1 ZNF592 HGNC HGNC:28986 protein_coding YES CCDS32317.1 ENSP00000452877 Q92610.174 UPI000013E5FC NM_014630.3 deleterious(0) probably_damaging(0.927) 10/11 Pfam:PF00096,PANTHER:PTHR47222,PANTHER:PTHR47222:SF1,SMART:SM00355 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . CCT . 3600.6 NA NA NA NA NA NA NA NA NA 84799871 AKAP13 11214 . GRCh38 chr15 85743786 85743786 + Frame_Shift_Del DEL A A - rs762496945 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.8372del p.Lys2791ArgfsTer34 p.K2791Rfs*34 ENST00000361243 36/37 NA NA NA NA NA NA AKAP13,frameshift_variant,p.Lys2787ArgfsTer34,ENST00000394518,NM_007200.5;AKAP13,frameshift_variant,p.Lys2791ArgfsTer34,ENST00000361243,NM_006738.6;AKAP13,frameshift_variant,p.Lys1408ArgfsTer34,ENST00000394510,NM_001270546.1;AKAP13,frameshift_variant,p.Lys1403ArgfsTer?,ENST00000560579,;AC021739.2,downstream_gene_variant,,ENST00000558375,;AKAP13,upstream_gene_variant,,ENST00000560185,;AKAP13,downstream_gene_variant,,ENST00000559391,;,regulatory_region_variant,,ENSR00000524391,; - ENSG00000170776 ENST00000361243 Transcript frameshift_variant 8446/9468 8365/8454 2789/2817 K/X Aaa/aa rs762496945 1 NA 1 AKAP13 HGNC HGNC:371 protein_coding YES CCDS32320.1 ENSP00000354718 Q12802.183 UPI00001A8BEB NM_006738.6 36/37 PANTHER:PTHR13944,PANTHER:PTHR13944:SF18,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 7 NA NA . AGAA . 2965.6 NA NA NA NA NA NA NA NA NA 85743785 AGBL1 0 . GRCh38 chr15 86080017 86080017 + Silent SNP G G A rs4887258 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.45G>A p.Thr15= p.T15= ENST00000441037 1/25 NA NA NA NA NA NA AGBL1,synonymous_variant,p.Thr15=,ENST00000441037,NM_152336.4;LINC01584,intron_variant,,ENST00000562495,;LINC01584,downstream_gene_variant,,ENST00000563990,;LINC01584,downstream_gene_variant,,ENST00000567981,;LINC01584,downstream_gene_variant,,ENST00000653333,;LINC01584,downstream_gene_variant,,ENST00000654064,;LINC01584,downstream_gene_variant,,ENST00000660161,;LINC01584,downstream_gene_variant,,ENST00000662763,;LINC01584,downstream_gene_variant,,ENST00000664634,;,regulatory_region_variant,,ENSR00000996422,;,TF_binding_site_variant,,ENSM00263498721,;,TF_binding_site_variant,,ENSM00522636837,; A ENSG00000273540 ENST00000441037 Transcript synonymous_variant 45/3551 45/3339 15/1112 T acG/acA rs4887258 1 NA 1 AGBL1 HGNC HGNC:26504 protein_coding YES CCDS58398.2 ENSP00000413001 Q96MI9.121 UPI000387C1D9 NM_152336.4 1/25 Gene3D:1.25.10.10,Superfamily:SSF48371 NA 0.8359 0.8501 NA 0.755 0.9215 0.7209 NA NA NA NA NA NA LOW 1 SNV 5 NA NA 1 . CGC . 6946.03 NA NA NA NA NA NA NA NA NA 86080017 POLG 5428 . GRCh38 chr15 89317488 89317488 + Silent SNP G G A rs1060504039 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3531C>T p.Val1177= p.V1177= ENST00000442287 22/23 NA NA NA NA NA NA POLG,synonymous_variant,p.Val1177=,ENST00000442287,;POLG,synonymous_variant,p.Val1177=,ENST00000268124,NM_001126131.2,NM_002693.3;POLG,intron_variant,,ENST00000637264,;FANCI,downstream_gene_variant,,ENST00000300027,NM_018193.3;FANCI,downstream_gene_variant,,ENST00000310775,NM_001376911.1,NM_001376910.1,NM_001113378.2;FANCI,downstream_gene_variant,,ENST00000561894,;POLG,upstream_gene_variant,,ENST00000635831,;POLG,downstream_gene_variant,,ENST00000636812,;POLG,downstream_gene_variant,,ENST00000670281,;FANCI,downstream_gene_variant,,ENST00000674831,;FANCI,downstream_gene_variant,,ENST00000676003,;POLG,non_coding_transcript_exon_variant,,ENST00000672695,;POLG,intron_variant,,ENST00000637042,;FANCI,downstream_gene_variant,,ENST00000565522,;FANCI,downstream_gene_variant,,ENST00000566615,;POLG,downstream_gene_variant,,ENST00000636530,;POLG,3_prime_UTR_variant,,ENST00000631044,;POLG,3_prime_UTR_variant,,ENST00000635986,;POLG,3_prime_UTR_variant,,ENST00000636774,;POLG,3_prime_UTR_variant,,ENST00000530292,;POLG,3_prime_UTR_variant,,ENST00000666746,;POLG,3_prime_UTR_variant,,ENST00000637238,;POLG,non_coding_transcript_exon_variant,,ENST00000672071,;POLG,non_coding_transcript_exon_variant,,ENST00000672923,;POLG,non_coding_transcript_exon_variant,,ENST00000526671,;FANCI,downstream_gene_variant,,ENST00000447611,;POLG,downstream_gene_variant,,ENST00000528881,;POLG,downstream_gene_variant,,ENST00000530715,;POLG,downstream_gene_variant,,ENST00000532584,;FANCI,downstream_gene_variant,,ENST00000566895,;FANCI,downstream_gene_variant,,ENST00000675352,;FANCI,downstream_gene_variant,,ENST00000676110,; A ENSG00000140521 ENST00000442287 Transcript synonymous_variant 3867/4487 3531/3720 1177/1239 V gtC/gtT rs1060504039,COSV51520403 1 NA -1 POLG HGNC HGNC:9179 protein_coding YES CCDS10350.1 ENSP00000399851 P54098.209 E5KNU5.81 UPI000000D9E8 22/23 PDB-ENSP_mappings:3ikm.A,PDB-ENSP_mappings:3ikm.D,PDB-ENSP_mappings:4ztu.A,PDB-ENSP_mappings:4ztz.A,PDB-ENSP_mappings:5c51.A,PDB-ENSP_mappings:5c52.A,PDB-ENSP_mappings:5c53.A,Pfam:PF00476,PIRSF:PIRSF000797,Prints:PR00867,PANTHER:PTHR10267,Superfamily:SSF56672,CDD:cd08641 NA NA NA NA NA NA NA NA NA likely_benign 0,1 NA NA NA NA LOW 1 SNV 1 NA 1,1 NA 1 . CGA . 2054.6 1.193e-05 NA 2.891e-05 NA NA NA 1.758e-05 NA NA 89317488 POLG 5428 . GRCh38 chr15 89333119 89333119 + Silent SNP C C T rs1434195885 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.636G>A p.Ala212= p.A212= ENST00000442287 2/23 NA NA NA NA NA NA POLG,missense_variant,p.Gly231Ser,ENST00000650303,;POLG,synonymous_variant,p.Ala212=,ENST00000442287,;POLG,synonymous_variant,p.Ala212=,ENST00000268124,NM_001126131.2,NM_002693.3;POLG,synonymous_variant,p.Ala9=,ENST00000637307,;POLG,upstream_gene_variant,,ENST00000637264,;AC124068.2,upstream_gene_variant,,ENST00000562356,;AC124068.2,upstream_gene_variant,,ENST00000569473,;POLG,downstream_gene_variant,,ENST00000636937,;POLG,downstream_gene_variant,,ENST00000637711,;POLG,synonymous_variant,p.Ala212=,ENST00000631044,;POLG,synonymous_variant,p.Ala212=,ENST00000635986,;POLG,synonymous_variant,p.Ala212=,ENST00000636774,;POLG,synonymous_variant,p.Ala79=,ENST00000530292,;POLG,synonymous_variant,p.Ala98=,ENST00000666746,;POLG,non_coding_transcript_exon_variant,,ENST00000672071,;POLG,upstream_gene_variant,,ENST00000532363,;POLG,upstream_gene_variant,,ENST00000672923,; T ENSG00000140521 ENST00000442287 Transcript synonymous_variant 972/4487 636/3720 212/1239 A gcG/gcA rs1434195885,COSV99175005 1 NA -1 POLG HGNC HGNC:9179 protein_coding YES CCDS10350.1 ENSP00000399851 P54098.209 E5KNU5.81 UPI000000D9E8 2/23 Gene3D:3.30.420.390,PDB-ENSP_mappings:3ikm.A,PDB-ENSP_mappings:3ikm.D,PDB-ENSP_mappings:4ztu.A,PDB-ENSP_mappings:4ztz.A,PDB-ENSP_mappings:5c51.A,PDB-ENSP_mappings:5c52.A,PDB-ENSP_mappings:5c53.A,Pfam:PF18136,PIRSF:PIRSF000797,PANTHER:PTHR10267,Superfamily:SSF53098 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA LOW 1 SNV 1 NA 0,1 NA 1 . CCG . 4930.6 5.661e-06 NA NA NA NA NA 1.217e-05 NA NA 89333119 AC091167.6 0 . GRCh38 chr15 90295161 90295161 + Silent SNP C C T rs2271552 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.252C>T p.Cys84= p.C84= ENST00000622269 3/4 NA NA NA NA NA NA AC091167.6,synonymous_variant,p.Cys84=,ENST00000622269,;RN7SL736P,downstream_gene_variant,,ENST00000613111,;,regulatory_region_variant,,ENSR00000525458,;GOLGA2P8,non_coding_transcript_exon_variant,,ENST00000505201,; T ENSG00000275674 ENST00000622269 Transcript synonymous_variant 251/518 252/315 84/104 C tgC/tgT rs2271552,COSV68599253 1 NA 1 AC091167.6 Clone_based_ensembl_gene protein_coding YES ENSP00000479373 A0A087WVE0.21 UPI0004620AA9 3/4 PANTHER:PTHR13475,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg 0.3217 0.2542 0.3084 NA 0.5109 0.1918 0.3609 NA NA 0,1 NA NA NA NA LOW 1 SNV 3 NA 0,1 NA NA . GCC . 2109.6 NA NA NA NA NA NA NA NA NA 90295161 MCTP2 55784 . GRCh38 chr15 94470358 94470358 + Missense_Mutation SNP C C G novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2386C>G p.Leu796Val p.L796V ENST00000357742 20/22 NA NA NA NA NA NA MCTP2,missense_variant,p.Leu796Val,ENST00000357742,NM_018349.3;MCTP2,missense_variant,p.Leu741Val,ENST00000451018,NM_001159643.1;AC009432.2,intron_variant,,ENST00000658115,;MCTP2,3_prime_UTR_variant,,ENST00000456504,; G ENSG00000140563 ENST00000357742 Transcript missense_variant 2710/7879 2386/2637 796/878 L/V Ctt/Gtt 1 NA 1 MCTP2 HGNC HGNC:25636 protein_coding YES CCDS32338.1 ENSP00000350377 Q6DN12.128 UPI0000D613A2 NM_018349.3 deleterious(0) probably_damaging(0.999) 20/22 Pfam:PF08372,PANTHER:PTHR45911,PANTHER:PTHR45911:SF2,Transmembrane_helices:TMhelix NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . CCT . 285.6 NA NA NA NA NA NA NA NA NA 94470358 OR4F6 390648 . GRCh38 chr15 101806510 101806510 + Missense_Mutation SNP C C T NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.791C>T p.Thr264Ile p.T264I ENST00000328882 2/2 NA NA NA NA NA NA OR4F6,missense_variant,p.Thr264Ile,ENST00000328882,NM_001005326.1; T ENSG00000184140 ENST00000328882 Transcript missense_variant 861/1238 791/939 264/312 T/I aCa/aTa COSV61027391 1 NA 1 OR4F6 HGNC HGNC:15372 protein_coding YES CCDS32341.1 ENSP00000327525 Q8NGB9.136 A0A126GV96.32 UPI0000041BF4 NM_001005326.1 tolerated_low_confidence(0.06) benign(0.014) 2/2 Gene3D:1.20.1070.10,Pfam:PF13853,PROSITE_profiles:PS50262,PANTHER:PTHR26451,PANTHER:PTHR26451:SF441,Superfamily:SSF81321,CDD:cd15226 NA NA NA NA NA NA NA NA NA 1 NA NA NA NA MODERATE 1 SNV NA NA 1 NA NA . ACA . 639.6 NA NA NA NA NA NA NA NA NA 101806510 MRPL28 10573 . GRCh38 chr16 370191 370191 + Missense_Mutation SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.28C>T p.Leu10Phe p.L10F ENST00000648346 2/6 NA NA NA NA NA NA MRPL28,missense_variant,p.Leu10Phe,ENST00000648346,;MRPL28,missense_variant,p.Leu10Phe,ENST00000199706,NM_006428.5;MRPL28,missense_variant,p.Leu10Phe,ENST00000389675,;MRPL28,missense_variant,p.Leu10Phe,ENST00000441883,;MRPL28,missense_variant,p.Leu10Phe,ENST00000447696,;MRPL28,missense_variant,p.Leu10Phe,ENST00000450882,;PGAP6,downstream_gene_variant,,ENST00000250930,;PGAP6,downstream_gene_variant,,ENST00000424078,;MRPL28,upstream_gene_variant,,ENST00000429738,;PGAP6,downstream_gene_variant,,ENST00000431232,NM_021259.3;PGAP6,downstream_gene_variant,,ENST00000448854,;MRPL28,non_coding_transcript_exon_variant,,ENST00000481453,;MRPL28,non_coding_transcript_exon_variant,,ENST00000483764,;MRPL28,non_coding_transcript_exon_variant,,ENST00000461550,;MRPL28,non_coding_transcript_exon_variant,,ENST00000469744,;PGAP6,downstream_gene_variant,,ENST00000467452,;PGAP6,downstream_gene_variant,,ENST00000475348,;,regulatory_region_variant,,ENSR00000082168,;,TF_binding_site_variant,,ENSM00493932817,; A ENSG00000086504 ENST00000648346 Transcript missense_variant 258/1707 28/771 10/256 L/F Ctc/Ttc 1 NA -1 MRPL28 HGNC HGNC:14484 protein_coding YES CCDS32349.1 ENSP00000497004 Q13084.164 UPI00001678A4 tolerated(0.07) possibly_damaging(0.885) 2/6 PANTHER:PTHR13528:SF2,PANTHER:PTHR13528 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE NA SNV NA NA NA NA . AGC . 3501.6 NA NA NA NA NA NA NA NA NA 370191 PGAP6 58986 . GRCh38 chr16 374005 374005 + Splice_Region SNP G G A rs151003883 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1902C>T p.Tyr634= p.Y634= ENST00000431232 11/13 NA NA NA NA NA NA PGAP6,splice_region_variant,p.Tyr634=,ENST00000431232,NM_021259.3;PGAP6,splice_region_variant,p.Tyr441=,ENST00000250930,;PGAP6,splice_region_variant,p.Tyr182=,ENST00000448854,;PGAP6,splice_region_variant,p.Tyr141=,ENST00000424078,;MRPL28,upstream_gene_variant,,ENST00000199706,NM_006428.5;MRPL28,upstream_gene_variant,,ENST00000389675,;PGAP6,downstream_gene_variant,,ENST00000427313,;MRPL28,upstream_gene_variant,,ENST00000429738,;MRPL28,upstream_gene_variant,,ENST00000441883,;MRPL28,upstream_gene_variant,,ENST00000447696,;MRPL28,upstream_gene_variant,,ENST00000450882,;MRPL28,upstream_gene_variant,,ENST00000648346,;PGAP6,downstream_gene_variant,,ENST00000476735,;PGAP6,non_coding_transcript_exon_variant,,ENST00000467452,;MRPL28,upstream_gene_variant,,ENST00000461550,;MRPL28,upstream_gene_variant,,ENST00000469744,;PGAP6,downstream_gene_variant,,ENST00000475348,;MRPL28,upstream_gene_variant,,ENST00000481453,;MRPL28,upstream_gene_variant,,ENST00000483764,; A ENSG00000129925 ENST00000431232 Transcript splice_region_variant,synonymous_variant 2059/3672 1902/2316 634/771 Y taC/taT rs151003883 1 NA -1 PGAP6 HGNC HGNC:17205 protein_coding YES CCDS10407.1 ENSP00000401338 Q9HCN3.155 UPI000013CCD4 NM_021259.3 11/13 Transmembrane_helices:TMhelix,PANTHER:PTHR14319:SF7,PANTHER:PTHR14319,Pfam:PF12036 4e-04 NA NA NA NA 0.002 NA 0.0002282 0.0002329 NA NA NA NA LOW 1 SNV 1 NA NA NA . CGT . 6832.6 9.515e-05 NA 2.968e-05 NA NA NA 0.0001369 0.0001695 0.0001983 374005 LMF1 64788 . GRCh38 chr16 871282 871282 + Silent SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.957C>T p.Ser319= p.S319= ENST00000262301 7/11 NA NA NA NA NA NA LMF1,synonymous_variant,p.Ser319=,ENST00000262301,NM_001352019.2,NM_001352020.1,NM_022773.4;LMF1,synonymous_variant,p.Ser82=,ENST00000543238,;LMF1,synonymous_variant,p.Ser102=,ENST00000568897,NM_001352017.2,NM_001352018.2,NM_001352021.2;LMF1,downstream_gene_variant,,ENST00000566627,;LMF1,downstream_gene_variant,,ENST00000570014,;LMF1,non_coding_transcript_exon_variant,,ENST00000568268,;LMF1,upstream_gene_variant,,ENST00000570168,;LMF1,3_prime_UTR_variant,,ENST00000545827,;LMF1,non_coding_transcript_exon_variant,,ENST00000569516,;LMF1,non_coding_transcript_exon_variant,,ENST00000565198,;LMF1,upstream_gene_variant,,ENST00000565276,; A ENSG00000103227 ENST00000262301 Transcript synonymous_variant 961/2606 957/1704 319/567 S agC/agT 1 NA -1 LMF1 HGNC HGNC:14154 protein_coding YES CCDS45373.1 ENSP00000262301 Q96S06.119 UPI000006E366 NM_001352019.2,NM_001352020.1,NM_022773.4 7/11 Pfam:PF06762,PANTHER:PTHR14463,PANTHER:PTHR14463:SF10 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA 1 . GGC . 6512.6 NA NA NA NA NA NA NA NA NA 871282 SOX8 30812 . GRCh38 chr16 984926 984926 + Missense_Mutation SNP C C A novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.881C>A p.Pro294His p.P294H ENST00000293894 3/3 NA NA NA NA NA NA SOX8,missense_variant,p.Pro294His,ENST00000293894,NM_014587.5;LMF1,upstream_gene_variant,,ENST00000570014,;CEROX1,upstream_gene_variant,,ENST00000562570,;CEROX1,upstream_gene_variant,,ENST00000563837,;CEROX1,upstream_gene_variant,,ENST00000563863,;CEROX1,upstream_gene_variant,,ENST00000565069,;CEROX1,upstream_gene_variant,,ENST00000565467,;CEROX1,upstream_gene_variant,,ENST00000568394,;CEROX1,upstream_gene_variant,,ENST00000655952,;CEROX1,upstream_gene_variant,,ENST00000669274,;SOX8,non_coding_transcript_exon_variant,,ENST00000566034,;LMF1,upstream_gene_variant,,ENST00000545827,;,regulatory_region_variant,,ENSR00000082273,; A ENSG00000005513 ENST00000293894 Transcript missense_variant 1034/3087 881/1341 294/446 P/H cCc/cAc 1 NA 1 SOX8 HGNC HGNC:11203 protein_coding YES CCDS10428.1 ENSP00000293894 P57073.152 UPI00000015FB NM_014587.5 tolerated(0.65) benign(0) 3/3 Low_complexity_(Seg):seg,PANTHER:PTHR45803:SF2,PANTHER:PTHR45803 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CCC . 5033.6 NA NA NA NA NA NA NA NA NA 984926 BAIAP3 8938 . GRCh38 chr16 1345284 1345284 + Frame_Shift_Del DEL C C - novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2085del p.Phe696SerfsTer5 p.F696Sfs*5 ENST00000324385 22/34 NA NA NA NA NA NA BAIAP3,frameshift_variant,p.Phe678SerfsTer5,ENST00000628027,;BAIAP3,frameshift_variant,p.Phe696SerfsTer5,ENST00000324385,NM_003933.4;BAIAP3,frameshift_variant,p.Phe678SerfsTer5,ENST00000397488,NM_001286464.2;BAIAP3,frameshift_variant,p.Phe661SerfsTer5,ENST00000426824,NM_001199097.2;BAIAP3,frameshift_variant,p.Phe625SerfsTer5,ENST00000421665,NM_001199096.1;BAIAP3,frameshift_variant,p.Phe633SerfsTer5,ENST00000568887,NM_001199099.2;BAIAP3,frameshift_variant,p.Phe638SerfsTer5,ENST00000562208,NM_001199098.2;BAIAP3,frameshift_variant,p.Phe86SerfsTer5,ENST00000566162,;TSR3,downstream_gene_variant,,ENST00000007390,NM_001001410.3;BAIAP3,upstream_gene_variant,,ENST00000561793,;BAIAP3,upstream_gene_variant,,ENST00000564213,;BAIAP3,upstream_gene_variant,,ENST00000561602,;TSR3,downstream_gene_variant,,ENST00000566296,;BAIAP3,upstream_gene_variant,,ENST00000566389,;BAIAP3,upstream_gene_variant,,ENST00000567203,;BAIAP3,downstream_gene_variant,,ENST00000567825,;BAIAP3,downstream_gene_variant,,ENST00000568198,;,regulatory_region_variant,,ENSR00000528578,; - ENSG00000007516 ENST00000324385 Transcript frameshift_variant 2239/4678 2081/3564 694/1187 A/X gCc/gc 1 NA 1 BAIAP3 HGNC HGNC:948 protein_coding YES CCDS10434.1 ENSP00000324510 O94812.154 UPI0000071E58 NM_003933.4 22/34 PROSITE_profiles:PS51258,PANTHER:PTHR45999:SF1,PANTHER:PTHR45999,Gene3D:1.10.357.50 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 4 NA NA . CGCC . 3589.6 NA NA NA NA NA NA NA NA NA 1345283 TELO2 9894 . GRCh38 chr16 1507609 1507609 + Missense_Mutation SNP G G A rs772152176 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2300G>A p.Arg767His p.R767H ENST00000262319 20/21 NA NA NA NA NA NA TELO2,missense_variant,p.Arg767His,ENST00000262319,NM_016111.4,NM_001351846.2;IFT140,downstream_gene_variant,,ENST00000361339,;IFT140,downstream_gene_variant,,ENST00000426508,NM_014714.4;TELO2,downstream_gene_variant,,ENST00000567423,;TELO2,downstream_gene_variant,,ENST00000564507,;TELO2,downstream_gene_variant,,ENST00000567427,;TELO2,non_coding_transcript_exon_variant,,ENST00000568240,;IFT140,downstream_gene_variant,,ENST00000397417,;TELO2,downstream_gene_variant,,ENST00000497339,;TELO2,downstream_gene_variant,,ENST00000563676,;IFT140,downstream_gene_variant,,ENST00000565298,;TELO2,downstream_gene_variant,,ENST00000569744,;,regulatory_region_variant,,ENSR00000998146,; A ENSG00000100726 ENST00000262319 Transcript missense_variant 2582/3314 2300/2514 767/837 R/H cGc/cAc rs772152176 1 NA 1 TELO2 HGNC HGNC:29099 protein_coding YES CCDS32363.1 ENSP00000262319 Q9Y4R8.162 UPI000016961D NM_016111.4,NM_001351846.2 deleterious(0) probably_damaging(0.999) 20/21 Superfamily:SSF48371,PANTHER:PTHR15830 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . CGC . 1555.6 9.024e-06 NA NA NA 5.811e-05 NA 9.648e-06 NA NA 1507609 CRAMP1 57585 . GRCh38 chr16 1652496 1652496 + Splice_Region SNP G G T novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.828G>T p.Gly276= p.G276= ENST00000397412 7/21 NA NA NA NA NA NA CRAMP1,splice_region_variant,p.Gly276=,ENST00000397412,NM_020825.4;CRAMP1,splice_region_variant,p.Gly276=,ENST00000293925,;AL031708.1,missense_variant,p.Gly102Val,ENST00000454337,; T ENSG00000007545 ENST00000397412 Transcript splice_region_variant,synonymous_variant 1127/7972 828/3810 276/1269 G ggG/ggT 1 NA 1 CRAMP1 HGNC HGNC:14122 protein_coding YES CCDS10440.2 ENSP00000380559 Q96RY5.140 UPI000066D946 NM_020825.4 7/21 PANTHER:PTHR21677,PANTHER:PTHR21677:SF1 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW NA SNV 5 NA NA NA . GGG . 1771.6 NA NA NA NA NA NA NA NA NA 1652496 CRAMP1 57585 . GRCh38 chr16 1656437 1656438 + Frame_Shift_Ins INS - - T novel NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1682dup p.Leu561PhefsTer49 p.L561Ffs*49 ENST00000397412 10/21 NA NA NA NA NA NA CRAMP1,frameshift_variant,p.Leu561PhefsTer49,ENST00000397412,NM_020825.4;CRAMP1,frameshift_variant,p.Leu561PhefsTer49,ENST00000293925,;AL031708.1,intron_variant,,ENST00000454337,; T ENSG00000007545 ENST00000397412 Transcript frameshift_variant 1979-1980/7972 1680-1681/3810 560-561/1269 -/X -/T 1 NA 1 CRAMP1 HGNC HGNC:14122 protein_coding YES CCDS10440.2 ENSP00000380559 Q96RY5.140 UPI000066D946 NM_020825.4 10/21 PANTHER:PTHR21677,PANTHER:PTHR21677:SF1,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH NA insertion 5 2 NA NA . CCT . 6170.64 NA NA NA NA NA NA NA NA NA 1656437 CRAMP1 57585 . GRCh38 chr16 1668140 1668141 + Frame_Shift_Ins INS - - CA novel NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3288_3289dup p.Ile1097ThrfsTer27 p.I1097Tfs*27 ENST00000397412 18/21 NA NA NA NA NA NA CRAMP1,frameshift_variant,p.Ile1097ThrfsTer27,ENST00000397412,NM_020825.4;CRAMP1,frameshift_variant,p.Ile1097ThrfsTer27,ENST00000293925,;CRAMP1,downstream_gene_variant,,ENST00000415022,;AL031708.1,3_prime_UTR_variant,,ENST00000454337,;CRAMP1,downstream_gene_variant,,ENST00000466562,;CRAMP1,downstream_gene_variant,,ENST00000467286,;CRAMP1,upstream_gene_variant,,ENST00000468839,;CRAMP1,downstream_gene_variant,,ENST00000492778,;CRAMP1,downstream_gene_variant,,ENST00000498594,; CA ENSG00000007545 ENST00000397412 Transcript frameshift_variant 3580-3581/7972 3281-3282/3810 1094/1269 A/AX gcc/gcCAc 1 NA 1 CRAMP1 HGNC HGNC:14122 protein_coding YES CCDS10440.2 ENSP00000380559 Q96RY5.140 UPI000066D946 NM_020825.4 18/21 PANTHER:PTHR21677,PANTHER:PTHR21677:SF1 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH NA insertion 5 8 NA NA . GCC . 5419.64 NA NA NA NA NA NA NA NA NA 1668140 PKD1 5310 . GRCh38 chr16 2111325 2111325 + Missense_Mutation SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3842G>A p.Gly1281Asp p.G1281D ENST00000262304 15/46 NA NA NA NA NA NA PKD1,missense_variant,p.Gly1281Asp,ENST00000262304,NM_001009944.3;PKD1,missense_variant,p.Gly1281Asp,ENST00000423118,NM_000296.4;PKD1,intron_variant,,ENST00000483024,;PKD1,intron_variant,,ENST00000488185,;AC009065.6,upstream_gene_variant,,ENST00000568795,;MIR6511B1,upstream_gene_variant,,ENST00000612014,;PKD1,intron_variant,,ENST00000468674,;PKD1,upstream_gene_variant,,ENST00000473780,;PKD1,upstream_gene_variant,,ENST00000483558,;PKD1,upstream_gene_variant,,ENST00000561991,;PKD1,intron_variant,,ENST00000415938,;PKD1,intron_variant,,ENST00000483731,;PKD1,intron_variant,,ENST00000565639,;PKD1,intron_variant,,ENST00000568591,;PKD1,intron_variant,,ENST00000569983,;PKD1,downstream_gene_variant,,ENST00000469241,;PKD1,upstream_gene_variant,,ENST00000486339,;PKD1,upstream_gene_variant,,ENST00000487932,;PKD1,upstream_gene_variant,,ENST00000496574,;PKD1,upstream_gene_variant,,ENST00000564890,; T ENSG00000008710 ENST00000262304 Transcript missense_variant 4051/14140 3842/12912 1281/4303 G/D gGc/gAc 1 NA -1 PKD1 HGNC HGNC:9008 protein_coding YES CCDS32369.1 ENSP00000262304 P98161.240 UPI00001B0454 NM_001009944.3 deleterious(0.05) possibly_damaging(0.792) 15/46 Gene3D:2.60.40.10,Pfam:PF00801,PROSITE_profiles:PS50093,PANTHER:PTHR46730,SMART:SM00089,Superfamily:SSF49299,TIGRFAM:TIGR00864,CDD:cd00146 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . GCC . 4413.6 NA NA NA NA NA NA NA NA NA 2111325 ZNF205 7755 . GRCh38 chr16 3119757 3119757 + Missense_Mutation SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1097G>A p.Cys366Tyr p.C366Y ENST00000620094 7/7 NA NA NA NA NA NA ZNF205,missense_variant,p.Cys366Tyr,ENST00000620094,NM_001278158.1;ZNF205,missense_variant,p.Cys366Tyr,ENST00000382192,NM_003456.3;ZNF205,missense_variant,p.Cys366Tyr,ENST00000219091,NM_001042428.2;ZNF205,missense_variant,p.Cys255Tyr,ENST00000570935,;ZNF205,downstream_gene_variant,,ENST00000414351,;ZNF205,downstream_gene_variant,,ENST00000444510,;ZNF213-AS1,intron_variant,,ENST00000572691,;ZNF213-AS1,intron_variant,,ENST00000575139,;ZNF213-AS1,intron_variant,,ENST00000576490,;ZNF213-AS1,intron_variant,,ENST00000653667,;ZNF213-AS1,intron_variant,,ENST00000657201,;ZNF213-AS1,intron_variant,,ENST00000657996,;ZNF213-AS1,intron_variant,,ENST00000664624,;ZNF213-AS1,intron_variant,,ENST00000668823,;ZNF213-AS1,intron_variant,,ENST00000670666,;ZNF213-AS1,intron_variant,,ENST00000673666,;ZNF213-AS1,intron_variant,,ENST00000674022,;ZNF213-AS1,downstream_gene_variant,,ENST00000654387,;ZNF213-AS1,downstream_gene_variant,,ENST00000668778,; A ENSG00000122386 ENST00000620094 Transcript missense_variant 1551/2309 1097/1665 366/554 C/Y tGc/tAc 1 NA 1 ZNF205 HGNC HGNC:12996 protein_coding YES CCDS10494.2 ENSP00000480401 O95201.170 UPI00000437F2 NM_001278158.1 deleterious(0) probably_damaging(1) 7/7 Gene3D:3.30.160.60,Pfam:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,PANTHER:PTHR23226,PANTHER:PTHR23226:SF77,SMART:SM00355,Superfamily:SSF57667 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . TGC . 7897.6 NA NA NA NA NA NA NA NA NA 3119757 MEFV 4210 . GRCh38 chr16 3249743 3249743 + Silent SNP G G A rs150252937 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.948C>T p.His316= p.H316= ENST00000219596 3/10 NA NA NA NA NA NA MEFV,synonymous_variant,p.His316=,ENST00000219596,NM_000243.3;MEFV,synonymous_variant,p.His136=,ENST00000339854,;MEFV,synonymous_variant,p.His105=,ENST00000541159,NM_001198536.2;MEFV,synonymous_variant,p.His105=,ENST00000536379,;MEFV,synonymous_variant,p.His347=,ENST00000542898,;MEFV,synonymous_variant,p.His316=,ENST00000537682,;MEFV,synonymous_variant,p.His316=,ENST00000538326,;MEFV,synonymous_variant,p.His105=,ENST00000536980,;MEFV,intron_variant,,ENST00000539145,;MEFV,intron_variant,,ENST00000570511,;MEFV,intron_variant,,ENST00000572244,;MEFV,intron_variant,,ENST00000574583,;MEFV,intron_variant,,ENST00000576315,;MEFV,upstream_gene_variant,,ENST00000539154,; A ENSG00000103313 ENST00000219596 Transcript synonymous_variant 994/3506 948/2346 316/781 H caC/caT rs150252937 1 NA -1 MEFV HGNC HGNC:6998 protein_coding YES CCDS10498.1 ENSP00000219596 O15553.201 UPI000004C0CA NM_000243.3 3/10 PANTHER:PTHR24103,PANTHER:PTHR24103:SF606,MobiDB_lite:mobidb-lite 2e-04 NA NA NA 0.001 NA NA NA 0.0001163 likely_benign NA NA NA NA LOW 1 SNV 1 NA 1 NA 1 . CGT . 2430.6 5.639e-05 NA 0.0003184 NA NA NA 2.705e-05 NA NA 3249743 MGRN1 23295 . GRCh38 chr16 4682895 4682895 + Silent SNP T T C novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1548T>C p.Pro516= p.P516= ENST00000587747 15/18 NA NA NA NA NA NA MGRN1,synonymous_variant,p.Pro477=,ENST00000399577,NM_001142290.2;MGRN1,synonymous_variant,p.Pro455=,ENST00000415496,NM_001142291.2;MGRN1,synonymous_variant,p.Pro477=,ENST00000262370,NM_015246.4;MGRN1,synonymous_variant,p.Pro516=,ENST00000587747,;MGRN1,synonymous_variant,p.Pro455=,ENST00000586183,;MGRN1,synonymous_variant,p.Pro455=,ENST00000588994,NM_001142289.2;MGRN1,downstream_gene_variant,,ENST00000590790,;MGRN1,non_coding_transcript_exon_variant,,ENST00000592256,;MGRN1,non_coding_transcript_exon_variant,,ENST00000588111,;MGRN1,downstream_gene_variant,,ENST00000591673,;MGRN1,3_prime_UTR_variant,,ENST00000536343,;MGRN1,non_coding_transcript_exon_variant,,ENST00000585676,;,regulatory_region_variant,,ENSR00000529730,; C ENSG00000102858 ENST00000587747 Transcript synonymous_variant 1663/1898 1548/1783 516/594 P ccT/ccC 1 NA 1 MGRN1 HGNC HGNC:20254 protein_coding YES ENSP00000467414 K7EPJ5.54 UPI0000D4D79C 15/18 MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . CTC . 1065.6 NA NA NA NA NA NA NA NA NA 4682895 METTL22 79091 . GRCh38 chr16 8644570 8644570 + Silent SNP T T C rs1641066 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1024T>C p.Leu342= p.L342= ENST00000381920 10/11 NA NA NA NA NA NA METTL22,synonymous_variant,p.Leu342=,ENST00000381920,NM_024109.4;METTL22,synonymous_variant,p.Leu286=,ENST00000561758,;METTL22,synonymous_variant,p.Leu38=,ENST00000562973,;METTL22,synonymous_variant,p.Leu83=,ENST00000562151,;METTL22,non_coding_transcript_exon_variant,,ENST00000568967,;METTL22,non_coding_transcript_exon_variant,,ENST00000564107,;METTL22,downstream_gene_variant,,ENST00000563501,;METTL22,missense_variant,p.Ile147Thr,ENST00000572956,;METTL22,3_prime_UTR_variant,,ENST00000163678,;METTL22,3_prime_UTR_variant,,ENST00000565866,;METTL22,non_coding_transcript_exon_variant,,ENST00000569597,;METTL22,downstream_gene_variant,,ENST00000561993,;METTL22,downstream_gene_variant,,ENST00000564133,;,regulatory_region_variant,,ENSR00000530382,; C ENSG00000067365 ENST00000381920 Transcript synonymous_variant 1272/4974 1024/1215 342/404 L Ttg/Ctg rs1641066 1 NA 1 METTL22 HGNC HGNC:28368 protein_coding YES CCDS10533.2 ENSP00000371345 Q9BUU2.120 UPI00001FED9D NM_024109.4 10/11 Gene3D:3.40.50.150,PANTHER:PTHR23108,PANTHER:PTHR23108:SF0 NA 0.9501 0.9928 NA 1 1 1 0.9596 1 NA NA NA NA LOW 1 SNV 5 NA NA NA . ATT . 12109.03 NA NA NA NA NA NA NA NA NA 8644570 GRIN2A 2903 . GRCh38 chr16 9849920 9849920 + Silent SNP G G T novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1164C>A p.Ala388= p.A388= ENST00000330684 5/13 NA NA NA NA NA NA GRIN2A,synonymous_variant,p.Ala388=,ENST00000330684,NM_001134407.3;GRIN2A,synonymous_variant,p.Ala388=,ENST00000396573,NM_000833.5;GRIN2A,synonymous_variant,p.Ala231=,ENST00000674742,;GRIN2A,synonymous_variant,p.Ala231=,ENST00000535259,;GRIN2A,synonymous_variant,p.Ala388=,ENST00000675398,;GRIN2A,synonymous_variant,p.Ala388=,ENST00000562109,NM_001134408.2;GRIN2A,non_coding_transcript_exon_variant,,ENST00000461292,;GRIN2A,non_coding_transcript_exon_variant,,ENST00000566683,;GRIN2A,non_coding_transcript_exon_variant,,ENST00000636273,;GRIN2A,non_coding_transcript_exon_variant,,ENST00000675189,; T ENSG00000183454 ENST00000330684 Transcript synonymous_variant 1734/14706 1164/4395 388/1464 A gcC/gcA 1 NA -1 GRIN2A HGNC HGNC:4585 protein_coding YES CCDS10539.1 ENSP00000332549 Q12879.209 Q547U9.140 UPI000000D7AB NM_001134407.3 5/13 PDB-ENSP_mappings:6ira.B,PDB-ENSP_mappings:6ira.D,PDB-ENSP_mappings:6irf.B,PDB-ENSP_mappings:6irf.D,PDB-ENSP_mappings:6irg.B,PDB-ENSP_mappings:6irg.D,PDB-ENSP_mappings:6irh.B,PDB-ENSP_mappings:6irh.D,PANTHER:PTHR18966,PANTHER:PTHR18966:SF407,Superfamily:SSF53822,CDD:cd06378 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . CGG . 632.6 NA NA NA NA NA NA NA NA NA 9849920 CIITA 4261 . GRCh38 chr16 10906684 10906684 + Missense_Mutation SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1195G>A p.Ala399Thr p.A399T ENST00000618327 11/20 NA NA NA NA NA NA CIITA,missense_variant,p.Ala398Thr,ENST00000324288,NM_000246.3,NM_001379333.1,NM_001379331.1;CIITA,missense_variant,p.Ala399Thr,ENST00000618327,NM_001286402.1,NM_001379332.1,NM_001379330.1,NM_001379334.1;CIITA,intron_variant,,ENST00000381835,NM_001286403.2;CIITA,intron_variant,,ENST00000618207,;CIITA,downstream_gene_variant,,ENST00000576601,;CIITA,downstream_gene_variant,,ENST00000637439,;CIITA,intron_variant,,ENST00000537380,;CIITA,non_coding_transcript_exon_variant,,ENST00000570546,;CIITA,non_coding_transcript_exon_variant,,ENST00000573309,;CIITA,downstream_gene_variant,,ENST00000571186,;CIITA,downstream_gene_variant,,ENST00000571190,; A ENSG00000179583 ENST00000618327 Transcript missense_variant 1328/4657 1195/3396 399/1131 A/T Gct/Act 1 NA 1 CIITA HGNC HGNC:7067 protein_coding YES CCDS73826.1 ENSP00000485010 A0A087X2I7.47 UPI0003C0C509 NM_001286402.1,NM_001379332.1,NM_001379330.1,NM_001379334.1 tolerated(0.1) benign(0.073) 11/20 Gene3D:3.40.50.300,PANTHER:PTHR47189 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 2 NA NA 1 . GGC . 8246.6 NA NA NA NA NA NA NA NA NA 10906684 AC099489.1 400499 . GRCh38 chr16 11477870 11477870 + Missense_Mutation SNP C C A rs1323696226 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2500G>T p.Asp834Tyr p.D834Y ENST00000598234 18/66 NA NA NA NA NA NA AC099489.1,missense_variant,p.Asp834Tyr,ENST00000598234,NM_001370704.1;AC099489.3,downstream_gene_variant,,ENST00000572950,;AC099489.1,3_prime_UTR_variant,,ENST00000595170,; A ENSG00000188897 ENST00000598234 Transcript missense_variant 2570/10590 2500/9801 834/3266 D/Y Gac/Tac rs1323696226 1 NA -1 AC099489.1 Clone_based_ensembl_gene protein_coding YES ENSP00000470478 M0QZD8.49 UPI000E6F2D14 NM_001370704.1 deleterious(0.01) probably_damaging(0.97) 18/66 Pfam:PF09172,SMART:SM01169,Superfamily:SSF56968 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE NA SNV 5 NA NA NA . TCA . 3622.6 NA NA NA NA NA NA NA NA NA 11477870 SNX29 92017 . GRCh38 chr16 12078914 12078914 + Splice_Region SNP T T C rs766872497 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1401T>C p.Ile467= p.I467= ENST00000566228 11/21 NA NA NA NA NA NA SNX29,splice_region_variant,p.Ile467=,ENST00000566228,NM_032167.5;SNX29,splice_region_variant,p.Ile101=,ENST00000563308,;RPS23P6,upstream_gene_variant,,ENST00000466136,; C ENSG00000048471 ENST00000566228 Transcript splice_region_variant,synonymous_variant 1474/8173 1401/2442 467/813 I atT/atC rs766872497 1 NA 1 SNX29 HGNC HGNC:30542 protein_coding YES CCDS10553.2 ENSP00000456480 Q8TEQ0.123 UPI00000382F9 NM_032167.5 11/21 Coiled-coils_(Ncoils):Coil,PANTHER:PTHR22775,PANTHER:PTHR22775:SF43 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA 1 . TTA . 2755.6 4.459e-06 NA NA NA NA NA NA NA 3.694e-05 12078914 NOMO2 283820 . GRCh38 chr16 18520851 18520851 + Silent SNP A A G rs1420777569 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2187T>C p.Gly729= p.G729= ENST00000621364 19/32 NA NA NA NA NA NA NOMO2,synonymous_variant,p.Gly729=,ENST00000330537,;NOMO2,synonymous_variant,p.Gly729=,ENST00000622306,NM_173614.2;NOMO2,synonymous_variant,p.Gly729=,ENST00000621364,NM_001004060.1;NOMO2,synonymous_variant,p.Gly729=,ENST00000381474,;NOMO2,synonymous_variant,p.Gly562=,ENST00000543392,;NOMO2,3_prime_UTR_variant,,ENST00000564991,;NOMO2,3_prime_UTR_variant,,ENST00000567831,;NOMO2,downstream_gene_variant,,ENST00000569051,; G ENSG00000185164 ENST00000621364 Transcript synonymous_variant 2259/3921 2187/3804 729/1267 G ggT/ggC rs1420777569 1 NA -1 NOMO2 HGNC HGNC:22652 protein_coding YES CCDS32394.1 ENSP00000477502 Q5JPE7.137 UPI00001AFC79 NM_001004060.1 19/32 Low_complexity_(Seg):seg,PANTHER:PTHR23303,PANTHER:PTHR23303:SF14 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . CAC . 1960.6 NA NA NA NA NA NA NA NA NA 18520851 NOMO2 283820 . GRCh38 chr16 18520860 18520860 + Missense_Mutation SNP A A T rs1464409710 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2178T>A p.Asn726Lys p.N726K ENST00000621364 19/32 NA NA NA NA NA NA NOMO2,missense_variant,p.Asn726Lys,ENST00000330537,;NOMO2,missense_variant,p.Asn726Lys,ENST00000622306,NM_173614.2;NOMO2,missense_variant,p.Asn726Lys,ENST00000621364,NM_001004060.1;NOMO2,missense_variant,p.Asn726Lys,ENST00000381474,;NOMO2,missense_variant,p.Asn559Lys,ENST00000543392,;NOMO2,3_prime_UTR_variant,,ENST00000564991,;NOMO2,3_prime_UTR_variant,,ENST00000567831,;NOMO2,downstream_gene_variant,,ENST00000569051,; T ENSG00000185164 ENST00000621364 Transcript missense_variant 2250/3921 2178/3804 726/1267 N/K aaT/aaA rs1464409710 1 NA -1 NOMO2 HGNC HGNC:22652 protein_coding YES CCDS32394.1 ENSP00000477502 Q5JPE7.137 UPI00001AFC79 NM_001004060.1 tolerated(1) benign(0) 19/32 Low_complexity_(Seg):seg,PANTHER:PTHR23303,PANTHER:PTHR23303:SF14 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CAT . 2082.6 1.194e-05 NA NA NA NA NA 1.763e-05 NA 3.266e-05 18520860 SMG1 552900 . GRCh38 chr16 18829390 18829390 + Missense_Mutation SNP C C T rs867858063 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.9499G>A p.Asp3167Asn p.D3167N ENST00000446231 54/63 NA NA NA NA NA NA SMG1,missense_variant,p.Asp3167Asn,ENST00000446231,NM_015092.5;SMG1,missense_variant,p.Asp3057Asn,ENST00000565324,; T ENSG00000157106 ENST00000446231 Transcript missense_variant 9866/16062 9499/10986 3167/3661 D/N Gac/Aac rs867858063 1 NA -1 SMG1 HGNC HGNC:30045 protein_coding YES CCDS45430.1 ENSP00000402515 Q96Q15.169 UPI00004F8E22 NM_015092.5 deleterious(0.01) benign(0.198) 54/63 PDB-ENSP_mappings:6l53.A,PDB-ENSP_mappings:6l54.A,PDB-ENSP_mappings:6syt.A NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . TCG . 1628.6 NA NA NA NA NA NA NA NA NA 18829390 SMG1 552900 . GRCh38 chr16 18863720 18863720 + Missense_Mutation SNP C C T rs137863609 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3625G>A p.Ala1209Thr p.A1209T ENST00000446231 25/63 NA NA NA NA NA NA SMG1,missense_variant,p.Ala1209Thr,ENST00000446231,NM_015092.5;SMG1,missense_variant,p.Ala1099Thr,ENST00000565324,;SMG1,missense_variant,p.Ala640Thr,ENST00000563235,;SMG1,downstream_gene_variant,,ENST00000566328,;SMG1,downstream_gene_variant,,ENST00000568038,;SMG1,upstream_gene_variant,,ENST00000569764,; T ENSG00000157106 ENST00000446231 Transcript missense_variant 3992/16062 3625/10986 1209/3661 A/T Gct/Act rs137863609 1 NA -1 SMG1 HGNC HGNC:30045 protein_coding YES CCDS45430.1 ENSP00000402515 Q96Q15.169 UPI00004F8E22 NM_015092.5 tolerated(0.75) benign(0) 25/63 PDB-ENSP_mappings:6l53.A,PDB-ENSP_mappings:6l54.A,PDB-ENSP_mappings:6syt.A,Pfam:PF15785,PANTHER:PTHR11139,PANTHER:PTHR11139:SF71,Superfamily:SSF48371 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . GCG . 1178.6 NA NA NA NA NA NA NA NA NA 18863720 ACSM3 6296 . GRCh38 chr16 20796489 20796489 + Missense_Mutation SNP G G T novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1674G>T p.Lys558Asn p.K558N ENST00000289416 13/14 NA NA NA NA NA NA ACSM3,missense_variant,p.Lys558Asn,ENST00000289416,NM_005622.4;ACSM3,missense_variant,p.Lys554Asn,ENST00000562251,;ACSM3,missense_variant,p.Lys121Asn,ENST00000569141,;ERI2,3_prime_UTR_variant,,ENST00000564349,;ERI2,3_prime_UTR_variant,,ENST00000357967,NM_001142725.2;ERI2,3_prime_UTR_variant,,ENST00000569729,;ERI2,intron_variant,,ENST00000300005,NM_080663.3;ERI2,downstream_gene_variant,,ENST00000563117,;ACSM3,splice_region_variant,,ENST00000567387,;ACSM3,splice_region_variant,,ENST00000567711,;ACSM3,splice_region_variant,,ENST00000567006,;ERI2,non_coding_transcript_exon_variant,,ENST00000562215,;ERI2,intron_variant,,ENST00000562987,;ERI2,downstream_gene_variant,,ENST00000567859,;ERI2,downstream_gene_variant,,ENST00000568805,; T ENSG00000005187 ENST00000289416 Transcript missense_variant,splice_region_variant 1837/2533 1674/1761 558/586 K/N aaG/aaT 1 NA 1 ACSM3 HGNC HGNC:10522 protein_coding YES CCDS10589.1 ENSP00000289416 Q53FZ2.125 UPI0000251DAA NM_005622.4 deleterious(0) probably_damaging(1) 13/14 CDD:cd05928,PANTHER:PTHR43605,PANTHER:PTHR43605:SF7,Gene3D:3.30.300.30,Pfam:PF13193,Superfamily:SSF56801 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . AGG . 1547.6 NA NA NA NA NA NA NA NA NA 20796489 NPIPB4 23117 . GRCh38 chr16 21836442 21836442 + Nonsense_Mutation SNP G G A rs746508191 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1945C>T p.Gln649Ter p.Q649* ENST00000415645 7/9 NA NA NA NA NA NA NPIPB4,stop_gained,p.Gln649Ter,ENST00000415645,NM_001310148.1;NPIPB4,intron_variant,,ENST00000537951,;NPIPB4,downstream_gene_variant,,ENST00000614197,;NPIPB4,downstream_gene_variant,,ENST00000165086,;NPIPB4,downstream_gene_variant,,ENST00000541329,;NPIPB4,downstream_gene_variant,,ENST00000542133,;NPIPB4,downstream_gene_variant,,ENST00000543660,;NPIPB4,downstream_gene_variant,,ENST00000545367,;,regulatory_region_variant,,ENSR00001000123,;AC092375.3,downstream_gene_variant,,ENST00000622730,; A ENSG00000185864 ENST00000415645 Transcript stop_gained 1985/3606 1945/3417 649/1138 Q/* Cag/Tag rs746508191 1 NA -1 NPIPB4 HGNC HGNC:41985 protein_coding YES ENSP00000404439 C9JG80.59 UPI00020651A0 NM_001310148.1 7/9 PANTHER:PTHR15438,PANTHER:PTHR15438:SF10 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 SNV 5 NA NA NA . TGA . 10923.6 2.979e-05 NA NA NA NA NA 6.893e-05 NA NA 21836442 VWA3A 146177 . GRCh38 chr16 22115444 22115444 + Missense_Mutation SNP G G T novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.787G>T p.Asp263Tyr p.D263Y ENST00000389398 9/34 NA NA NA NA NA NA VWA3A,missense_variant,p.Asp263Tyr,ENST00000389398,NM_173615.5;VWA3A,missense_variant,p.Asp263Tyr,ENST00000568328,;VWA3A,downstream_gene_variant,,ENST00000567131,;VWA3A,non_coding_transcript_exon_variant,,ENST00000566668,;VWA3A,downstream_gene_variant,,ENST00000562340,;,regulatory_region_variant,,ENSR00000533630,; T ENSG00000175267 ENST00000389398 Transcript missense_variant 884/4599 787/3555 263/1184 D/Y Gat/Tat 1 NA 1 VWA3A HGNC HGNC:27088 protein_coding YES CCDS45441.1 ENSP00000374049 A6NCI4.95 UPI0001663067 NM_173615.5 deleterious(0) possibly_damaging(0.83) 9/34 Superfamily:SSF53300,Pfam:PF13768,Gene3D:3.40.50.410,PANTHER:PTHR46478 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . GGA . 951.6 NA NA NA NA NA NA NA NA NA 22115444 ERN2 10595 . GRCh38 chr16 23690973 23690973 + Missense_Mutation SNP T T C rs775088320 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2639A>G p.Gln880Arg p.Q880R ENST00000256797 22/22 NA NA NA NA NA NA ERN2,missense_variant,p.Gln880Arg,ENST00000256797,NM_033266.4;ERN2,missense_variant,p.Gln828Arg,ENST00000457008,NM_001308220.2;PLK1,downstream_gene_variant,,ENST00000300093,NM_005030.6;AC008870.3,upstream_gene_variant,,ENST00000566143,;ERN2,3_prime_UTR_variant,,ENST00000562458,;PLK1,downstream_gene_variant,,ENST00000562272,;PLK1,downstream_gene_variant,,ENST00000562407,;ERN2,downstream_gene_variant,,ENST00000562562,;PLK1,downstream_gene_variant,,ENST00000564794,;PLK1,downstream_gene_variant,,ENST00000564947,; C ENSG00000134398 ENST00000256797 Transcript missense_variant 2674/3337 2639/2781 880/926 Q/R cAg/cGg rs775088320 1 NA -1 ERN2 HGNC HGNC:16942 protein_coding YES CCDS32407.2 ENSP00000256797 Q76MJ5.149 UPI000004A5C0 NM_033266.4 tolerated(0.59) benign(0.003) 22/22 PROSITE_profiles:PS51392,CDD:cd10422,PANTHER:PTHR13954,PANTHER:PTHR13954:SF15,Gene3D:1.20.1440.180,Pfam:PF06479,SMART:SM00580 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CTG . 5256.6 3.579e-05 NA NA NA NA NA 7.913e-05 NA NA 23690973 TNRC6A 27327 . GRCh38 chr16 24820295 24820295 + Missense_Mutation SNP C C T NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.5237C>T p.Thr1746Met p.T1746M ENST00000395799 22/25 NA NA NA NA NA NA TNRC6A,missense_variant,p.Thr1746Met,ENST00000395799,NM_014494.4;TNRC6A,missense_variant,p.Thr1697Met,ENST00000315183,NM_001351850.2,NM_001330520.3;TNRC6A,missense_variant,p.Thr690Met,ENST00000450465,;TNRC6A,missense_variant,p.Thr60Met,ENST00000569098,;AC008731.1,upstream_gene_variant,,ENST00000568895,;TNRC6A,3_prime_UTR_variant,,ENST00000491718,;TNRC6A,downstream_gene_variant,,ENST00000462400,;TNRC6A,upstream_gene_variant,,ENST00000464539,;TNRC6A,downstream_gene_variant,,ENST00000477487,;TNRC6A,downstream_gene_variant,,ENST00000569376,;TNRC6A,downstream_gene_variant,,ENST00000569634,; T ENSG00000090905 ENST00000395799 Transcript missense_variant 5428/8491 5237/5889 1746/1962 T/M aCg/aTg COSV100170134 1 NA 1 TNRC6A HGNC HGNC:11969 protein_coding YES CCDS10624.2 ENSP00000379144 Q8NDV7.179 UPI000059D33E NM_014494.4 deleterious(0) benign(0.425) 22/25 Pfam:PF16608,PANTHER:PTHR13020,PANTHER:PTHR13020:SF28,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA 1 NA NA NA NA MODERATE NA SNV 5 NA 1 NA 1 . ACG . 2438.6 NA NA NA NA NA NA NA NA NA 24820295 HS3ST4 9951 . GRCh38 chr16 26135912 26135912 + Silent SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1035G>A p.Gln345= p.Q345= ENST00000331351 2/2 NA NA NA NA NA NA HS3ST4,synonymous_variant,p.Gln345=,ENST00000331351,NM_006040.3;HS3ST4,non_coding_transcript_exon_variant,,ENST00000475436,; A ENSG00000182601 ENST00000331351 Transcript synonymous_variant 1494/3267 1035/1371 345/456 Q caG/caA 1 NA 1 HS3ST4 HGNC HGNC:5200 protein_coding YES CCDS53995.1 ENSP00000330606 Q9Y661.142 UPI000040938A NM_006040.3 2/2 PANTHER:PTHR10605:SF11,PANTHER:PTHR10605,Pfam:PF00685,Gene3D:3.40.50.300,Superfamily:SSF52540 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . AGT . 3124.6 NA NA NA NA NA NA NA NA NA 26135912 NPIPB7 100507607 . GRCh38 chr16 28456868 28456868 + Silent SNP G G A rs1555466174 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.822C>T p.Pro274= p.P274= ENST00000435324 7/7 NA NA NA NA NA NA NPIPB7,synonymous_variant,p.Pro267=,ENST00000452313,;NPIPB7,synonymous_variant,p.Pro206=,ENST00000652214,;NPIPB7,synonymous_variant,p.Pro274=,ENST00000435324,;AC138894.1,synonymous_variant,p.Pro321=,ENST00000637378,;AC009093.11,intron_variant,,ENST00000675058,;AC138894.2,upstream_gene_variant,,ENST00000602838,;AC138894.1,3_prime_UTR_variant,,ENST00000635887,;AC138894.1,3_prime_UTR_variant,,ENST00000636503,;AC138894.1,3_prime_UTR_variant,,ENST00000637376,;AC138894.1,non_coding_transcript_exon_variant,,ENST00000636078,;AC138894.4,downstream_gene_variant,,ENST00000616703,; A ENSG00000233232 ENST00000435324 Transcript synonymous_variant 822/1266 822/1266 274/421 P ccC/ccT rs1555466174 1 NA -1 NPIPB7 HGNC HGNC:33832 protein_coding YES ENSP00000415207 I3L0I5.48 UPI0004E4CA0F 7/7 Pfam:PF06409,PANTHER:PTHR15438,PANTHER:PTHR15438:SF4,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . CGG . 106.6 NA NA NA NA NA NA NA NA NA 28456868 NPIPB7 100507607 . GRCh38 chr16 28457002 28457002 + Missense_Mutation SNP A A G rs463807 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.688T>C p.Cys230Arg p.C230R ENST00000435324 7/7 NA NA NA NA NA NA NPIPB7,missense_variant,p.Cys223Arg,ENST00000452313,;NPIPB7,missense_variant,p.Cys162Arg,ENST00000652214,;NPIPB7,missense_variant,p.Cys230Arg,ENST00000435324,;AC138894.1,missense_variant,p.Cys277Arg,ENST00000637378,;AC009093.11,intron_variant,,ENST00000675058,;AC138894.2,upstream_gene_variant,,ENST00000602838,;AC138894.1,3_prime_UTR_variant,,ENST00000635887,;AC138894.1,3_prime_UTR_variant,,ENST00000636503,;AC138894.1,3_prime_UTR_variant,,ENST00000637376,;AC138894.1,non_coding_transcript_exon_variant,,ENST00000636078,;AC138894.4,downstream_gene_variant,,ENST00000616703,; G ENSG00000233232 ENST00000435324 Transcript missense_variant 688/1266 688/1266 230/421 C/R Tgt/Cgt rs463807 1 NA -1 NPIPB7 HGNC HGNC:33832 protein_coding YES ENSP00000415207 I3L0I5.48 UPI0004E4CA0F tolerated_low_confidence(1) benign(0) 7/7 Pfam:PF06409,PANTHER:PTHR15438,PANTHER:PTHR15438:SF4 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . CAA . 618.03 NA NA NA NA NA NA NA NA NA 28457002 NPIPB7 100507607 . GRCh38 chr16 28471131 28471131 + Silent SNP T T C rs376128578 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.45A>G p.Pro15= p.P15= ENST00000435324 1/7 NA NA NA NA NA NA NPIPB7,synonymous_variant,p.Pro15=,ENST00000435324,;AC138894.1,intron_variant,,ENST00000637378,;NPIPB7,upstream_gene_variant,,ENST00000452313,;CLN3,downstream_gene_variant,,ENST00000569430,;CLN3,downstream_gene_variant,,ENST00000637100,;NPIPB7,upstream_gene_variant,,ENST00000652214,;AC009093.11,intron_variant,,ENST00000675058,;AC138894.1,3_prime_UTR_variant,,ENST00000636866,;AC138894.1,3_prime_UTR_variant,,ENST00000636017,;AC138894.1,3_prime_UTR_variant,,ENST00000637299,;AC138894.1,3_prime_UTR_variant,,ENST00000638036,;AC138894.1,intron_variant,,ENST00000568224,;AC138894.1,intron_variant,,ENST00000635887,;AC138894.1,intron_variant,,ENST00000636078,;AC138894.1,intron_variant,,ENST00000636503,;AC138894.1,intron_variant,,ENST00000636766,;AC138894.1,intron_variant,,ENST00000637376,;AC138894.1,intron_variant,,ENST00000637745,;,regulatory_region_variant,,ENSR00000534947,; C ENSG00000233232 ENST00000435324 Transcript synonymous_variant 45/1266 45/1266 15/421 P ccA/ccG rs376128578 1 NA -1 NPIPB7 HGNC HGNC:33832 protein_coding YES ENSP00000415207 I3L0I5.48 UPI0004E4CA0F 1/7 MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . CTG . 289.02 NA NA NA NA NA NA NA NA NA 28471131 SULT1A1 6817 . GRCh38 chr16 28608757 28608757 + Silent SNP G G A rs1414016713 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.99C>T p.Ser33= p.S33= ENST00000569554 1/7 NA NA NA NA NA NA SULT1A1,synonymous_variant,p.Ser33=,ENST00000569554,NM_177530.2,NM_177534.2;SULT1A1,synonymous_variant,p.Ser33=,ENST00000314752,NM_001055.3,NM_177529.2;SULT1A1,synonymous_variant,p.Ser33=,ENST00000566189,;SULT1A1,synonymous_variant,p.Ser33=,ENST00000567512,;SULT1A1,intron_variant,,ENST00000350842,NM_177536.3;AC020765.6,intron_variant,,ENST00000677940,;AC009093.11,intron_variant,,ENST00000675058,;SULT1A1,missense_variant,p.Leu81Phe,ENST00000563493,;AC020765.6,3_prime_UTR_variant,,ENST00000395607,;SULT1A1,3_prime_UTR_variant,,ENST00000562058,;SULT1A1,3_prime_UTR_variant,,ENST00000564818,;SULT1A1,non_coding_transcript_exon_variant,,ENST00000567998,;SULT1A1,non_coding_transcript_exon_variant,,ENST00000395609,;AC020765.6,intron_variant,,ENST00000679262,;AC020765.4,downstream_gene_variant,,ENST00000621738,;AC020765.5,downstream_gene_variant,,ENST00000645962,; A ENSG00000196502 ENST00000569554 Transcript synonymous_variant 164/1578 99/888 33/295 S agC/agT rs1414016713 1 NA -1 SULT1A1 HGNC HGNC:11453 protein_coding YES CCDS32420.1 ENSP00000457912 P50225.190 UPI000013EA41 NM_177530.2,NM_177534.2 1/7 PDB-ENSP_mappings:1ls6.A,PDB-ENSP_mappings:1z28.A,PDB-ENSP_mappings:2d06.A,PDB-ENSP_mappings:2d06.B,Gene3D:3.40.50.300,PDB-ENSP_mappings:3qvu.A,PDB-ENSP_mappings:3qvu.B,PDB-ENSP_mappings:3qvv.A,PDB-ENSP_mappings:3qvv.B,PDB-ENSP_mappings:3u3j.A,PDB-ENSP_mappings:3u3j.B,PDB-ENSP_mappings:3u3k.A,PDB-ENSP_mappings:3u3k.B,PDB-ENSP_mappings:3u3m.A,PDB-ENSP_mappings:3u3o.A,PDB-ENSP_mappings:3u3r.A,PDB-ENSP_mappings:4gra.A,PDB-ENSP_mappings:4gra.B,PANTHER:PTHR11783,PANTHER:PTHR11783:SF156,Superfamily:SSF52540 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . AGC . 4889.6 7.973e-06 NA NA NA NA NA 8.831e-06 NA 3.268e-05 28608757 SH2B1 25970 . GRCh38 chr16 28866173 28866173 + Missense_Mutation SNP C C T rs933512684 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.79C>T p.Arg27Trp p.R27W ENST00000322610 4/11 NA NA NA NA NA NA SH2B1,missense_variant,p.Arg27Trp,ENST00000337120,NM_001145796.1,NM_001145812.1,NM_015503.2;SH2B1,missense_variant,p.Arg27Trp,ENST00000322610,NM_001308293.1;SH2B1,missense_variant,p.Arg27Trp,ENST00000359285,NM_001145797.1;SH2B1,missense_variant,p.Arg27Trp,ENST00000618521,NM_001145795.1;SH2B1,missense_variant,p.Arg27Trp,ENST00000395532,;SH2B1,missense_variant,p.Arg27Trp,ENST00000563591,;SH2B1,missense_variant,p.Arg27Trp,ENST00000566209,;SH2B1,intron_variant,,ENST00000538342,NM_001308294.1;SH2B1,intron_variant,,ENST00000545570,;SH2B1,intron_variant,,ENST00000567536,;SH2B1,upstream_gene_variant,,ENST00000561629,;SH2B1,upstream_gene_variant,,ENST00000566176,;AC009093.11,intron_variant,,ENST00000675058,;AC133550.3,upstream_gene_variant,,ENST00000567731,;SH2B1,intron_variant,,ENST00000563674,;SH2B1,upstream_gene_variant,,ENST00000569471,; T ENSG00000178188 ENST00000322610 Transcript missense_variant 518/3095 79/2271 27/756 R/W Cgg/Tgg rs933512684 1 NA 1 SH2B1 HGNC HGNC:30417 protein_coding YES CCDS53996.1 ENSP00000321221 Q9NRF2.157 A0A024QZD2.53 UPI00001AF36C NM_001308293.1 deleterious(0) possibly_damaging(0.541) 4/11 Pfam:PF08916,PANTHER:PTHR10872,PANTHER:PTHR10872:SF3,Superfamily:SSF109805 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 2 NA NA 1 . GCG . 522.6 4.279e-05 NA 3.81e-05 NA 0.0001616 NA 3.058e-05 0.0002252 4.136e-05 28866173 SH2B1 25970 . GRCh38 chr16 28872613 28872613 + Missense_Mutation SNP A A T novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1805A>T p.Glu602Val p.E602V ENST00000322610 10/11 NA NA NA NA NA NA SH2B1,missense_variant,p.Glu602Val,ENST00000337120,NM_001145796.1,NM_001145812.1,NM_015503.2;SH2B1,missense_variant,p.Glu602Val,ENST00000322610,NM_001308293.1;SH2B1,missense_variant,p.Glu602Val,ENST00000359285,NM_001145797.1;SH2B1,missense_variant,p.Glu602Val,ENST00000618521,NM_001145795.1;SH2B1,missense_variant,p.Glu602Val,ENST00000395532,;SH2B1,missense_variant,p.Glu266Val,ENST00000538342,NM_001308294.1;SH2B1,missense_variant,p.Glu292Val,ENST00000545570,;SH2B1,missense_variant,p.Glu77Val,ENST00000569651,;SH2B1,missense_variant,p.Glu48Val,ENST00000568868,;SH2B1,downstream_gene_variant,,ENST00000561629,;SH2B1,downstream_gene_variant,,ENST00000566176,;SH2B1,downstream_gene_variant,,ENST00000567536,;AC009093.11,intron_variant,,ENST00000675058,;SH2B1,intron_variant,,ENST00000563674,;SH2B1,downstream_gene_variant,,ENST00000569471,; T ENSG00000178188 ENST00000322610 Transcript missense_variant 2244/3095 1805/2271 602/756 E/V gAg/gTg 1 NA 1 SH2B1 HGNC HGNC:30417 protein_coding YES CCDS53996.1 ENSP00000321221 Q9NRF2.157 A0A024QZD2.53 UPI00001AF36C NM_001308293.1 deleterious(0) benign(0.365) 10/11 Gene3D:3.30.505.10,PDB-ENSP_mappings:5w3r.A,Pfam:PF00017,Prints:PR00401,PROSITE_profiles:PS50001,PANTHER:PTHR10872,PANTHER:PTHR10872:SF3,SMART:SM00252,Superfamily:SSF55550,CDD:cd10346 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 2 NA NA 1 . GAG . 3607.6 NA NA NA NA NA NA NA NA NA 28872613 NPIPB12 0 . GRCh38 chr16 29485038 29485038 + Missense_Mutation SNP A A G rs201118856 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1438T>C p.Ser480Pro p.S480P ENST00000550665 8/8 NA NA NA NA NA NA NPIPB12,missense_variant,p.Ser480Pro,ENST00000550665,NM_001355401.1;NPIPB12,intron_variant,,ENST00000458643,;NPIPB12,downstream_gene_variant,,ENST00000617311,;AC133555.6,intron_variant,,ENST00000675579,;NPIPB12,downstream_gene_variant,,ENST00000549733,;NPIPB12,downstream_gene_variant,,ENST00000551448,;NPIPB12,downstream_gene_variant,,ENST00000552123,;AC133555.1,downstream_gene_variant,,ENST00000546408,; G ENSG00000169203 ENST00000550665 Transcript missense_variant 1513/1861 1438/1786 480/595 S/P Tct/Cct rs201118856,COSV99076293 1 NA -1 NPIPB12 HGNC HGNC:37491 protein_coding YES ENSP00000447597 F8W0I5.44 UPI00020CDF9E NM_001355401.1 tolerated_low_confidence(1) benign(0) 8/8 PANTHER:PTHR15438:SF10,PANTHER:PTHR15438 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 5 NA 0,1 NA NA . GAG . 520.6 NA NA NA NA NA NA NA NA NA 29485038 NPIPB12 0 . GRCh38 chr16 29485093 29485093 + Silent SNP T T A novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1383A>T p.Ile461= p.I461= ENST00000550665 8/8 NA NA NA NA NA NA NPIPB12,synonymous_variant,p.Ile461=,ENST00000550665,NM_001355401.1;NPIPB12,intron_variant,,ENST00000458643,;NPIPB12,downstream_gene_variant,,ENST00000617311,;AC133555.6,intron_variant,,ENST00000675579,;NPIPB12,downstream_gene_variant,,ENST00000549733,;NPIPB12,downstream_gene_variant,,ENST00000551448,;NPIPB12,downstream_gene_variant,,ENST00000552123,;AC133555.1,downstream_gene_variant,,ENST00000546408,; A ENSG00000169203 ENST00000550665 Transcript synonymous_variant 1458/1861 1383/1786 461/595 I atA/atT 1 NA -1 NPIPB12 HGNC HGNC:37491 protein_coding YES ENSP00000447597 F8W0I5.44 UPI00020CDF9E NM_001355401.1 8/8 PANTHER:PTHR15438:SF10,PANTHER:PTHR15438 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . TTA . 180.6 NA NA NA NA NA NA NA NA NA 29485093 NPIPB12 0 . GRCh38 chr16 29485129 29485129 + Silent SNP A A G rs199741507 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1347T>C p.Asn449= p.N449= ENST00000550665 8/8 NA NA NA NA NA NA NPIPB12,synonymous_variant,p.Asn449=,ENST00000550665,NM_001355401.1;NPIPB12,intron_variant,,ENST00000458643,;NPIPB12,downstream_gene_variant,,ENST00000617311,;AC133555.6,intron_variant,,ENST00000675579,;NPIPB12,downstream_gene_variant,,ENST00000549733,;NPIPB12,downstream_gene_variant,,ENST00000551448,;NPIPB12,downstream_gene_variant,,ENST00000552123,;AC133555.1,downstream_gene_variant,,ENST00000546408,; G ENSG00000169203 ENST00000550665 Transcript synonymous_variant 1422/1861 1347/1786 449/595 N aaT/aaC rs199741507 1 NA -1 NPIPB12 HGNC HGNC:37491 protein_coding YES ENSP00000447597 F8W0I5.44 UPI00020CDF9E NM_001355401.1 8/8 PANTHER:PTHR15438:SF10,PANTHER:PTHR15438:SF10,PANTHER:PTHR15438,PANTHER:PTHR15438 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . TAT . 276.6 NA NA NA NA NA NA NA NA NA 29485129 NPIPB12 0 . GRCh38 chr16 29485390 29485391 + In_Frame_Ins INS - - GCTGAGGGTGGA rs1170188684 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1074_1085dup p.Pro359_Ala362dup p.P359_A362dup ENST00000550665 8/8 NA NA NA NA NA NA NPIPB12,inframe_insertion,p.Pro359_Ala362dup,ENST00000550665,NM_001355401.1;NPIPB12,inframe_insertion,p.Pro143_Ala146dup,ENST00000458643,;NPIPB12,downstream_gene_variant,,ENST00000617311,;AC133555.6,intron_variant,,ENST00000675579,;NPIPB12,downstream_gene_variant,,ENST00000549733,;NPIPB12,downstream_gene_variant,,ENST00000551448,;NPIPB12,downstream_gene_variant,,ENST00000552123,;AC133555.1,downstream_gene_variant,,ENST00000546408,; GCTGAGGGTGGA ENSG00000169203 ENST00000550665 Transcript inframe_insertion 1160-1161/1861 1085-1086/1786 362/595 A/APPSA gcg/gcTCCACCCTCAGCg rs1170188684 1 NA -1 NPIPB12 HGNC HGNC:37491 protein_coding YES ENSP00000447597 F8W0I5.44 UPI00020CDF9E NM_001355401.1 8/8 Low_complexity_(Seg):seg,PANTHER:PTHR15438:SF10,PANTHER:PTHR15438 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 insertion 5 NA NA NA . CCG . 4350.64 NA NA NA NA NA NA NA NA NA 29485390 TAOK2 9344 . GRCh38 chr16 29986443 29986443 + Missense_Mutation SNP G G A rs867355297 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2171G>A p.Arg724His p.R724H ENST00000308893 16/16 NA NA NA NA NA NA TAOK2,missense_variant,p.Arg724His,ENST00000308893,NM_016151.4;TAOK2,missense_variant,p.Arg551His,ENST00000416441,;TAOK2,missense_variant,p.Arg724His,ENST00000279394,NM_004783.4;TAOK2,missense_variant,p.Arg724His,ENST00000543033,NM_001252043.2;TAOK2,non_coding_transcript_exon_variant,,ENST00000566552,;TAOK2,upstream_gene_variant,,ENST00000570844,; A ENSG00000149930 ENST00000308893 Transcript missense_variant 2987/4937 2171/3708 724/1235 R/H cGt/cAt rs867355297,COSV99665006 1 NA 1 TAOK2 HGNC HGNC:16835 protein_coding YES CCDS10663.1 ENSP00000310094 Q9UL54.176 UPI000013EDDA NM_016151.4 deleterious(0) probably_damaging(0.952) 16/16 PANTHER:PTHR47167,PANTHER:PTHR47167:SF1 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 1 NA 0,1 NA NA . CGT . 6564.6 4.099e-06 NA NA NA NA NA NA 0.0001691 NA 29986443 CD2BP2 10421 . GRCh38 chr16 30353037 30353037 + Frame_Shift_Del DEL G G - novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.974del p.Pro325LeufsTer58 p.P325Lfs*58 ENST00000305596 7/7 NA NA NA NA NA NA CD2BP2,frameshift_variant,p.Pro325LeufsTer58,ENST00000305596,NM_006110.3;CD2BP2,frameshift_variant,p.Pro325LeufsTer58,ENST00000569466,NM_001243646.1;TBC1D10B,downstream_gene_variant,,ENST00000409939,NM_015527.4;CD2BP2-DT,upstream_gene_variant,,ENST00000563252,;TBC1D10B,downstream_gene_variant,,ENST00000475650,;TBC1D10B,downstream_gene_variant,,ENST00000478158,;CD2BP2,downstream_gene_variant,,ENST00000564525,;,regulatory_region_variant,,ENSR00000535559,; - ENSG00000169217 ENST00000305596 Transcript frameshift_variant 1097/3361 974/1026 325/341 P/X cCt/ct 1 NA -1 CD2BP2 HGNC HGNC:1656 protein_coding YES CCDS10675.1 ENSP00000304903 O95400.170 A0A024QZC1.49 UPI000006D625 NM_006110.3 7/7 PDB-ENSP_mappings:1gyf.A,PDB-ENSP_mappings:1l2z.A,PDB-ENSP_mappings:1syx.B,PDB-ENSP_mappings:1syx.D,PDB-ENSP_mappings:1syx.F,Gene3D:3.30.1490.40,PDB-ENSP_mappings:4bws.C,PDB-ENSP_mappings:4bws.F,Pfam:PF02213,PROSITE_profiles:PS50829,PANTHER:PTHR13138,SMART:SM00444,Superfamily:SSF55277,CDD:cd00072 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 NA NA NA . CAGG . 3042.6 NA NA NA NA NA NA NA NA NA 30353036 PRSS8 5652 . GRCh38 chr16 31132050 31132050 + Frame_Shift_Del DEL G G - novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.991del p.Leu331TrpfsTer42 p.L331Wfs*42 ENST00000317508 6/6 NA NA NA NA NA NA PRSS8,frameshift_variant,p.Leu331TrpfsTer42,ENST00000317508,NM_002773.5;PRSS8,frameshift_variant,p.Leu277TrpfsTer42,ENST00000568261,;KAT8,downstream_gene_variant,,ENST00000219797,NM_032188.3;KAT8,downstream_gene_variant,,ENST00000448516,NM_182958.3;KAT8,downstream_gene_variant,,ENST00000537402,;KAT8,downstream_gene_variant,,ENST00000543774,;PRSS8,downstream_gene_variant,,ENST00000567531,;PRSS8,downstream_gene_variant,,ENST00000567797,;AC009088.3,downstream_gene_variant,,ENST00000563605,;KAT8,downstream_gene_variant,,ENST00000538768,;PRSS8,downstream_gene_variant,,ENST00000564025,;PRSS8,downstream_gene_variant,,ENST00000567833,;KAT8,downstream_gene_variant,,ENST00000573144,; - ENSG00000052344 ENST00000317508 Transcript frameshift_variant 1220/1837 991/1032 331/343 L/X Ctg/tg 1 NA -1 PRSS8 HGNC HGNC:9491 protein_coding YES CCDS45469.1 ENSP00000319730 Q16651.170 UPI0000046DCB NM_002773.5 6/6 Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 NA NA NA . CAGG . 14016.6 NA NA NA NA NA NA NA NA NA 31132049 PRSS36 146547 . GRCh38 chr16 31149187 31149187 + Missense_Mutation SNP G G A rs1254581835 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.158C>T p.Ala53Val p.A53V ENST00000268281 4/15 NA NA NA NA NA NA PRSS36,missense_variant,p.Ala53Val,ENST00000268281,NM_173502.5;PRSS36,missense_variant,p.Ala53Val,ENST00000569305,NM_001258290.2;PRSS36,missense_variant,p.Ala53Val,ENST00000418068,NM_001258291.2;PRSS36,non_coding_transcript_exon_variant,,ENST00000562368,;PRSS36,non_coding_transcript_exon_variant,,ENST00000569614,;PRSS36,non_coding_transcript_exon_variant,,ENST00000561897,;PRSS36,downstream_gene_variant,,ENST00000562390,;,regulatory_region_variant,,ENSR00000535809,;,regulatory_region_variant,,ENSR00001001038,; A ENSG00000178226 ENST00000268281 Transcript missense_variant 189/2811 158/2568 53/855 A/V gCg/gTg rs1254581835,COSV51639477 1 NA -1 PRSS36 HGNC HGNC:26906 protein_coding YES CCDS32436.1 ENSP00000268281 Q5K4E3.131 UPI00001FFF6A NM_173502.5 deleterious(0.01) possibly_damaging(0.767) 4/15 Gene3D:2.40.10.10,Pfam:PF00089,PIRSF:PIRSF037933,PROSITE_profiles:PS50240,PANTHER:PTHR24276,PANTHER:PTHR24276:SF62,SMART:SM00020,Superfamily:SSF50494,CDD:cd00190 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 1 NA 0,1 NA NA . CGC . 2657.6 5.673e-06 NA NA NA NA NA NA NA 4.107e-05 31149187 C16orf87 388272 . GRCh38 chr16 46809701 46809701 + Missense_Mutation SNP T T A novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.263A>T p.Asn88Ile p.N88I ENST00000565112 3/5 NA NA NA NA NA NA C16orf87,missense_variant,p.Asn83Ile,ENST00000285697,NM_001001436.4;C16orf87,missense_variant,p.Asn88Ile,ENST00000565112,;C16orf87,intron_variant,,ENST00000394806,NM_001348660.2,NM_001348661.2;C16orf87,non_coding_transcript_exon_variant,,ENST00000564250,;,regulatory_region_variant,,ENSR00000536401,; A ENSG00000155330 ENST00000565112 Transcript missense_variant 262/879 263/486 88/161 N/I aAc/aTc 1 NA -1 C16orf87 HGNC HGNC:33754 protein_coding YES ENSP00000455829 H3BQL3.46 UPI0002466EBE deleterious_low_confidence(0) probably_damaging(0.998) 3/5 PANTHER:PTHR31101,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . GTT . 1154.6 NA NA NA NA NA NA NA NA NA 46809701 ZNF423 23090 . GRCh38 chr16 49636323 49636323 + Silent SNP G G A rs369438876 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2853C>T p.Asn951= p.N951= ENST00000563137 4/8 NA NA NA NA NA NA ZNF423,synonymous_variant,p.Asn951=,ENST00000563137,NM_001379286.1;ZNF423,synonymous_variant,p.Asn943=,ENST00000561648,NM_015069.4;ZNF423,synonymous_variant,p.Asn883=,ENST00000562871,;ZNF423,synonymous_variant,p.Asn826=,ENST00000535559,NM_001330533.2;ZNF423,synonymous_variant,p.Asn883=,ENST00000562520,NM_001271620.2;ZNF423,synonymous_variant,p.Asn826=,ENST00000567169,; A ENSG00000102935 ENST00000563137 Transcript synonymous_variant 3191/7968 2853/3879 951/1292 N aaC/aaT rs369438876 1 NA -1 ZNF423 HGNC HGNC:16762 protein_coding YES ENSP00000455588 Q2M1K9.144 UPI0007DC742E NM_001379286.1 4/8 Gene3D:3.30.160.60,Pfam:PF13912,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,PANTHER:PTHR24408,PANTHER:PTHR24408:SF28,SMART:SM00355,Superfamily:SSF57667 NA NA NA NA NA NA NA NA 0.0001163 NA NA NA NA LOW 1 SNV 5 NA NA 1 . CGT . 7259.6 3.602e-05 NA NA NA NA NA 6.206e-05 NA 6.534e-05 49636323 BRD7 29117 . GRCh38 chr16 50326379 50326379 + Missense_Mutation SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1100G>A p.Cys367Tyr p.C367Y ENST00000394689 10/17 NA NA NA NA NA NA BRD7,missense_variant,p.Cys367Tyr,ENST00000394688,NM_013263.5;BRD7,missense_variant,p.Cys367Tyr,ENST00000394689,NM_001173984.3; T ENSG00000166164 ENST00000394689 Transcript missense_variant 1105/2145 1100/1959 367/652 C/Y tGc/tAc 1 NA -1 BRD7 HGNC HGNC:14310 protein_coding YES CCDS54007.1 ENSP00000378181 Q9NPI1.164 UPI000013E567 NM_001173984.3 tolerated(0.3) possibly_damaging(0.701) 10/17 Pfam:PF12024,PANTHER:PTHR22881,PANTHER:PTHR22881:SF12 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . GCA . 4630.6 NA NA NA NA NA NA NA NA NA 50326379 CES1 1066 . GRCh38 chr16 55819548 55819548 + Missense_Mutation SNP G G A rs767343447 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.893C>T p.Thr298Met p.T298M ENST00000360526 7/14 NA NA NA NA NA NA CES1,missense_variant,p.Thr297Met,ENST00000422046,NM_001266.5;CES1,missense_variant,p.Thr298Met,ENST00000360526,NM_001025195.2;CES1,missense_variant,p.Thr297Met,ENST00000361503,NM_001025194.2;CES1,downstream_gene_variant,,ENST00000566555,;CES1,missense_variant,p.Thr12Met,ENST00000569260,;CES1,downstream_gene_variant,,ENST00000563005,;CES1,downstream_gene_variant,,ENST00000565403,; A ENSG00000198848 ENST00000360526 Transcript missense_variant 934/1946 893/1707 298/568 T/M aCg/aTg rs767343447,COSV62085843 1 NA -1 CES1 HGNC HGNC:1863 protein_coding YES CCDS32450.1 ENSP00000353720 P23141.201 UPI000054B390 NM_001025195.2 tolerated(0.06) probably_damaging(0.96) 7/14 Gene3D:3.40.50.1820,Pfam:PF00135,PANTHER:PTHR11559,PANTHER:PTHR11559:SF179,Superfamily:SSF53474,CDD:cd00312,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 1 NA 0,1 NA 1 . CGT . 1643.6 2.785e-05 0.000123 5.782e-05 NA NA NA 2.638e-05 NA NA 55819548 CES1 1066 . GRCh38 chr16 55826161 55826161 + Frame_Shift_Del DEL T T - novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.395del p.Asn132ThrfsTer5 p.N132Tfs*5 ENST00000360526 3/14 NA NA NA NA NA NA CES1,frameshift_variant,p.Asn131ThrfsTer5,ENST00000422046,NM_001266.5;CES1,frameshift_variant,p.Asn132ThrfsTer5,ENST00000360526,NM_001025195.2;CES1,frameshift_variant,p.Asn131ThrfsTer5,ENST00000361503,NM_001025194.2;CES1,non_coding_transcript_exon_variant,,ENST00000566555,;CES1,non_coding_transcript_exon_variant,,ENST00000563005,;CES1,intron_variant,,ENST00000565403,; - ENSG00000198848 ENST00000360526 Transcript frameshift_variant 436/1946 395/1707 132/568 N/X aAc/ac 1 NA -1 CES1 HGNC HGNC:1863 protein_coding YES CCDS32450.1 ENSP00000353720 P23141.201 UPI000054B390 NM_001025195.2 3/14 Gene3D:3.40.50.1820,Pfam:PF00135,PANTHER:PTHR11559,PANTHER:PTHR11559:SF179,Superfamily:SSF53474,CDD:cd00312 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 NA NA 1 . TGTT . 1618.6 NA NA NA NA NA NA NA NA NA 55826160 CPNE2 221184 . GRCh38 chr16 57113346 57113346 + Missense_Mutation SNP T T C novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.239T>C p.Val80Ala p.V80A ENST00000290776 3/16 NA NA NA NA NA NA CPNE2,missense_variant,p.Val80Ala,ENST00000290776,NM_152727.6;CPNE2,missense_variant,p.Val80Ala,ENST00000535318,;CPNE2,missense_variant,p.Val80Ala,ENST00000565874,;CPNE2,missense_variant,p.Val80Ala,ENST00000566259,;CPNE2,5_prime_UTR_variant,,ENST00000567487,;,regulatory_region_variant,,ENSR00000538513,; C ENSG00000140848 ENST00000290776 Transcript missense_variant 482/2601 239/1647 80/548 V/A gTg/gCg 1 NA 1 CPNE2 HGNC HGNC:2315 protein_coding YES CCDS10774.1 ENSP00000290776 Q96FN4.148 UPI000017DA4F NM_152727.6 tolerated(0.25) benign(0.102) 3/16 PROSITE_profiles:PS50004,CDD:cd04048,PANTHER:PTHR10857,PANTHER:PTHR10857:SF3,Gene3D:2.60.40.150,Pfam:PF00168,SMART:SM00239,Superfamily:SSF49562 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . GTG . 5061.6 NA NA NA NA NA NA NA NA NA 57113346 CX3CL1 6376 . GRCh38 chr16 57382671 57382671 + Frame_Shift_Del DEL G G - NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.855del p.Pro286LeufsTer149 p.P286Lfs*149 ENST00000563383 3/3 NA NA NA NA NA NA CX3CL1,frameshift_variant,p.Pro242LeufsTer149,ENST00000565912,;CX3CL1,frameshift_variant,p.Pro286LeufsTer149,ENST00000563383,;CX3CL1,frameshift_variant,p.Pro280LeufsTer149,ENST00000006053,NM_002996.6,NM_001304392.3;CX3CL1,downstream_gene_variant,,ENST00000564948,;,regulatory_region_variant,,ENSR00000281041,; - ENSG00000006210 ENST00000563383 Transcript frameshift_variant 943/3313 851/1212 284/403 W/X tGg/tg COSV99136422 1 NA 1 CX3CL1 HGNC HGNC:10647 protein_coding YES ENSP00000456830 H3BSR6.52 UPI0002466DA8 3/3 Prints:PR01721 NA NA NA NA NA NA NA NA NA 1 NA NA NA NA HIGH 1 deletion 5 4 1 NA NA . CTGG . 5003.6 NA NA NA NA NA NA NA NA NA 57382670 DRC7 84229 . GRCh38 chr16 57726215 57726215 + Missense_Mutation SNP C C T rs748847770 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1906C>T p.Arg636Trp p.R636W ENST00000360716 14/19 NA NA NA NA NA NA DRC7,missense_variant,p.Arg636Trp,ENST00000360716,NM_001289162.2;DRC7,missense_variant,p.Arg636Trp,ENST00000394337,NM_032269.6;DRC7,missense_variant,p.Arg571Trp,ENST00000336825,NM_001289163.2;DRC7,missense_variant,p.Arg226Trp,ENST00000562250,;DRC7,non_coding_transcript_exon_variant,,ENST00000565609,; T ENSG00000159625 ENST00000360716 Transcript missense_variant 2121/3387 1906/2625 636/874 R/W Cgg/Tgg rs748847770,COSV100395767,COSV61054971 1 NA 1 DRC7 HGNC HGNC:25289 protein_coding YES CCDS10787.1 ENSP00000353942 Q8IY82.126 UPI00001AEB68 NM_001289162.2 deleterious(0.01) possibly_damaging(0.857) 14/19 PANTHER:PTHR35249 NA NA NA NA NA NA NA NA NA 0,1,1 NA NA NA NA MODERATE 1 SNV 1 NA 0,1,1 NA NA . GCG . 8012.6 1.6e-05 NA NA NA NA NA 3.554e-05 NA NA 57726215 SLC38A7 55238 . GRCh38 chr16 58671242 58671242 + Missense_Mutation SNP G G A rs778140612 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1034C>T p.Ala345Val p.A345V ENST00000570101 9/11 NA NA NA NA NA NA SLC38A7,missense_variant,p.Ala345Val,ENST00000570101,NM_001369611.1;SLC38A7,missense_variant,p.Ala345Val,ENST00000219320,NM_001369609.1,NM_001369608.1,NM_018231.3;SLC38A7,missense_variant,p.Ala256Val,ENST00000564010,;SLC38A7,intron_variant,,ENST00000564100,NM_001369610.1,NM_001308384.2;SLC38A7,downstream_gene_variant,,ENST00000570214,;SLC38A7,intron_variant,,ENST00000566953,;SLC38A7,splice_region_variant,,ENST00000566598,;SLC38A7,downstream_gene_variant,,ENST00000562149,;SLC38A7,downstream_gene_variant,,ENST00000565785,;SLC38A7,downstream_gene_variant,,ENST00000569209,; A ENSG00000103042 ENST00000570101 Transcript missense_variant,splice_region_variant 1918/4549 1034/1389 345/462 A/V gCg/gTg rs778140612 1 NA -1 SLC38A7 HGNC HGNC:25582 protein_coding YES CCDS10800.1 ENSP00000454646 Q9NVC3.143 UPI000004EC72 NM_001369611.1 tolerated(0.13) probably_damaging(0.998) 9/11 Pfam:PF01490,PANTHER:PTHR22950,PANTHER:PTHR22950:SF192 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CGC . 3670.6 4.044e-05 NA 0.0002611 NA NA NA 8.996e-06 NA NA 58671242 PDP2 57546 . GRCh38 chr16 66884864 66884864 + Missense_Mutation SNP G G T novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.580G>T p.Gly194Trp p.G194W ENST00000311765 2/2 NA NA NA NA NA NA PDP2,missense_variant,p.Gly194Trp,ENST00000311765,NM_001329931.2,NM_001329933.2,NM_001329930.2,NM_001329928.2,NM_001329929.2,NM_001329932.2,NM_020786.4,NM_001329934.2;PDP2,missense_variant,p.Gly194Trp,ENST00000566776,;PDP2,downstream_gene_variant,,ENST00000561704,;PDP2,downstream_gene_variant,,ENST00000566543,;PDP2,downstream_gene_variant,,ENST00000568398,;PDP2,downstream_gene_variant,,ENST00000568869,;PDP2,intron_variant,,ENST00000566805,;PDP2,intron_variant,,ENST00000568720,;PDP2,upstream_gene_variant,,ENST00000561475,; T ENSG00000172840 ENST00000311765 Transcript missense_variant 760/6997 580/1590 194/529 G/W Ggg/Tgg 1 NA 1 PDP2 HGNC HGNC:30263 protein_coding YES CCDS10822.1 ENSP00000309548 Q9P2J9.169 UPI0000044254 NM_001329931.2,NM_001329933.2,NM_001329930.2,NM_001329928.2,NM_001329929.2,NM_001329932.2,NM_020786.4,NM_001329934.2 deleterious(0.04) probably_damaging(0.913) 2/2 PROSITE_profiles:PS51746,CDD:cd00143,PANTHER:PTHR13832,PANTHER:PTHR13832:SF343,Gene3D:3.60.40.10,SMART:SM00332,Superfamily:SSF81606 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . AGG . 7349.6 NA NA NA NA NA NA NA NA NA 66884864 E2F4 1874 . GRCh38 chr16 67195891 67195896 + In_Frame_Del DEL CAGCAG CAGCAG - rs3830472 NA HCI-EC-23 NORMAL CAGCAG CAGCAG NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.918_923del p.Ser318_Ser319del p.S318_S319del ENST00000379378 7/10 NA NA NA NA NA NA E2F4,inframe_deletion,p.Ser318_Ser319del,ENST00000379378,NM_001950.4;E2F4,inframe_deletion,p.Ser59_Ser60del,ENST00000565226,;ELMO3,upstream_gene_variant,,ENST00000360833,;ELMO3,upstream_gene_variant,,ENST00000393997,NM_024712.5;ELMO3,upstream_gene_variant,,ENST00000477898,;ELMO3,upstream_gene_variant,,ENST00000652269,;E2F4,downstream_gene_variant,,ENST00000564718,;ELMO3,upstream_gene_variant,,ENST00000571638,;E2F4,3_prime_UTR_variant,,ENST00000568839,;E2F4,3_prime_UTR_variant,,ENST00000569573,;E2F4,non_coding_transcript_exon_variant,,ENST00000567007,;E2F4,non_coding_transcript_exon_variant,,ENST00000567228,;E2F4,downstream_gene_variant,,ENST00000561904,;E2F4,downstream_gene_variant,,ENST00000563238,;E2F4,downstream_gene_variant,,ENST00000565849,;E2F4,downstream_gene_variant,,ENST00000566368,;E2F4,downstream_gene_variant,,ENST00000568485,;E2F4,downstream_gene_variant,,ENST00000568693,;ELMO3,upstream_gene_variant,,ENST00000571587,; - ENSG00000205250 ENST00000379378 Transcript inframe_deletion 991-996/2110 918-923/1242 306-308/413 DSS/D gaCAGCAGc/gac rs3830472 1 NA 1 E2F4 HGNC HGNC:3118 protein_coding YES CCDS32464.1 ENSP00000368686 Q16254.203 UPI000002EFCB NM_001950.4 7/10 Low_complexity_(Seg):seg,MobiDB_lite:mobidb-lite,PANTHER:PTHR12081,PANTHER:PTHR12081:SF42 NA NA NA NA NA NA NA 0.02245 0.009069 NA NA NA NA MODERATE 1 sequence_alteration 1 NA NA NA . GACAGCAGC . 7894.1 NA NA NA NA NA NA NA NA NA 67195890 CTCF 10664 . GRCh38 chr16 67611435 67611436 + Frame_Shift_Ins INS - - A rs886041997 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.610dup p.Thr204AsnfsTer26 p.T204Nfs*26 ENST00000646076 4/13 NA NA NA NA NA NA CTCF,frameshift_variant,p.Thr204AsnfsTer26,ENST00000646076,;CTCF,frameshift_variant,p.Thr204AsnfsTer26,ENST00000642819,;CTCF,frameshift_variant,p.Thr204AsnfsTer26,ENST00000264010,NM_006565.4;CTCF,frameshift_variant,p.Thr204AsnfsTer26,ENST00000644753,;CTCF,frameshift_variant,p.Thr204AsnfsTer26,ENST00000646771,;CTCF,frameshift_variant,p.Thr204AsnfsTer26,ENST00000645306,NM_001363916.1;CTCF,frameshift_variant,p.Thr204AsnfsTer26,ENST00000645699,;CTCF,intron_variant,,ENST00000401394,NM_001191022.2;CTCF,downstream_gene_variant,,ENST00000642847,;CTCF,downstream_gene_variant,,ENST00000644852,;AC009095.1,downstream_gene_variant,,ENST00000388909,;CTCF,frameshift_variant,p.Thr204AsnfsTer26,ENST00000643892,;CTCF,non_coding_transcript_exon_variant,,ENST00000566078,;CTCF,upstream_gene_variant,,ENST00000642943,;CTCF,upstream_gene_variant,,ENST00000645409,;CTCF,upstream_gene_variant,,ENST00000646566,; A ENSG00000102974 ENST00000646076 Transcript frameshift_variant 1104-1105/3989 603-604/2184 201-202/727 -/X -/A rs886041997 1 NA 1 CTCF HGNC HGNC:13723 protein_coding YES CCDS10841.1 ENSP00000494538 P49711.201 UPI0000000DDE 4/13 PDB-ENSP_mappings:6qnx.C,PANTHER:PTHR24403,PANTHER:PTHR24403:SF73,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA pathogenic NA NA NA NA HIGH NA insertion NA 7 1 NA 1 . CCA . 2526.64 NA NA NA NA NA NA NA NA NA 67611435 CTCF 10664 . GRCh38 chr16 67637752 67637752 + Frame_Shift_Del DEL A A - rs1400980130 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2070del p.Glu691SerfsTer30 p.E691Sfs*30 ENST00000646076 13/13 NA NA NA NA NA NA CTCF,frameshift_variant,p.Glu691SerfsTer30,ENST00000646076,;CTCF,frameshift_variant,p.Glu691SerfsTer30,ENST00000642819,;CTCF,frameshift_variant,p.Glu691SerfsTer30,ENST00000264010,NM_006565.4;CTCF,frameshift_variant,p.Glu691SerfsTer30,ENST00000644753,;CTCF,frameshift_variant,p.Glu689SerfsTer30,ENST00000646771,;CTCF,frameshift_variant,p.Glu689SerfsTer30,ENST00000645306,NM_001363916.1;CTCF,frameshift_variant,p.Glu691SerfsTer30,ENST00000645699,;CTCF,frameshift_variant,p.Glu363SerfsTer30,ENST00000401394,NM_001191022.2;CTCF,3_prime_UTR_variant,,ENST00000643892,;CTCF,non_coding_transcript_exon_variant,,ENST00000645409,;CTCF,non_coding_transcript_exon_variant,,ENST00000646566,;CTCF,non_coding_transcript_exon_variant,,ENST00000644950,;CTCF,non_coding_transcript_exon_variant,,ENST00000642420,; - ENSG00000102974 ENST00000646076 Transcript frameshift_variant 2565/3989 2064/2184 688/727 V/X gtA/gt rs1400980130 1 NA 1 CTCF HGNC HGNC:13723 protein_coding YES CCDS10841.1 ENSP00000494538 P49711.201 UPI0000000DDE 13/13 PDB-ENSP_mappings:6qnx.C,PANTHER:PTHR24403,PANTHER:PTHR24403:SF73 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion NA 6 NA 1 . GTAA . 4868.6 NA NA NA NA NA NA NA NA NA 67637751 ACD 65057 . GRCh38 chr16 67659927 67659927 + Missense_Mutation SNP C C A novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.476G>T p.Arg159Leu p.R159L ENST00000620338 2/12 NA NA NA NA NA NA ACD,missense_variant,p.Arg159Leu,ENST00000620338,;ACD,missense_variant,p.Arg70Leu,ENST00000219251,NM_022914.3;ACD,missense_variant,p.Arg73Leu,ENST00000620761,NM_001082486.2;ACD,missense_variant,p.Arg70Leu,ENST00000602320,;PARD6A,upstream_gene_variant,,ENST00000219255,NM_016948.3;ENKD1,downstream_gene_variant,,ENST00000243878,NM_032140.3;CARMIL2,downstream_gene_variant,,ENST00000334583,NM_001013838.3;PARD6A,upstream_gene_variant,,ENST00000458121,NM_001037281.2;CARMIL2,downstream_gene_variant,,ENST00000545661,NM_001317026.3;ACD,upstream_gene_variant,,ENST00000602382,;ENKD1,downstream_gene_variant,,ENST00000602409,;PARD6A,upstream_gene_variant,,ENST00000602551,;ENKD1,downstream_gene_variant,,ENST00000602644,;ENKD1,downstream_gene_variant,,ENST00000602415,;ACD,missense_variant,p.Arg8Leu,ENST00000602850,;ACD,non_coding_transcript_exon_variant,,ENST00000602622,;ACD,non_coding_transcript_exon_variant,,ENST00000602860,;ACD,non_coding_transcript_exon_variant,,ENST00000602519,;ACD,non_coding_transcript_exon_variant,,ENST00000602945,;ACD,non_coding_transcript_exon_variant,,ENST00000602780,;ACD,non_coding_transcript_exon_variant,,ENST00000602821,;ACD,intron_variant,,ENST00000602423,;CARMIL2,downstream_gene_variant,,ENST00000602368,;ENKD1,downstream_gene_variant,,ENST00000602642,;ACD,upstream_gene_variant,,ENST00000602656,;CARMIL2,downstream_gene_variant,,ENST00000602705,;PARD6A,upstream_gene_variant,,ENST00000602727,;ENKD1,downstream_gene_variant,,ENST00000602942,;,regulatory_region_variant,,ENSR00000087164,; A ENSG00000102977 ENST00000620338 Transcript missense_variant 813/2065 476/1635 159/544 R/L cGg/cTg 1 NA -1 ACD HGNC HGNC:25070 protein_coding YES CCDS42181.1 ENSP00000483117 A0A590TQL1.3 UPI0000246BB2 tolerated(0.11) benign(0.288) 2/12 PDB-ENSP_mappings:2i46.A,PDB-ENSP_mappings:2i46.B,PDB-ENSP_mappings:5i2x.A,PDB-ENSP_mappings:5i2x.B,PDB-ENSP_mappings:5i2y.A,PDB-ENSP_mappings:5i2y.B,PANTHER:PTHR14487,Gene3D:2.40.50.960,Pfam:PF10341 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . CCG . 4653.6 NA NA NA NA NA NA NA NA NA 67659927 SLC12A4 6560 . GRCh38 chr16 67946332 67946332 + Missense_Mutation SNP G G A rs747319073 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2452C>T p.Arg818Cys p.R818C ENST00000422611 18/23 NA NA NA NA NA NA SLC12A4,missense_variant,p.Arg816Cys,ENST00000316341,NM_001145961.2,NM_005072.5;SLC12A4,missense_variant,p.Arg818Cys,ENST00000422611,NM_001145962.1;SLC12A4,missense_variant,p.Arg816Cys,ENST00000576616,;SLC12A4,missense_variant,p.Arg785Cys,ENST00000541864,NM_001145964.2;SLC12A4,missense_variant,p.Arg768Cys,ENST00000572037,;SLC12A4,missense_variant,p.Arg810Cys,ENST00000537830,NM_001145963.2;LCAT,upstream_gene_variant,,ENST00000264005,NM_000229.2;LCAT,upstream_gene_variant,,ENST00000570369,;LCAT,upstream_gene_variant,,ENST00000570396,;LCAT,upstream_gene_variant,,ENST00000570980,;LCAT,upstream_gene_variant,,ENST00000576450,;SLC12A4,synonymous_variant,p.Cys60=,ENST00000575857,;SLC12A4,non_coding_transcript_exon_variant,,ENST00000570802,;SLC12A4,upstream_gene_variant,,ENST00000570616,;SLC12A4,downstream_gene_variant,,ENST00000572476,;SLC12A4,downstream_gene_variant,,ENST00000572766,;SLC12A4,downstream_gene_variant,,ENST00000573023,;LCAT,upstream_gene_variant,,ENST00000573538,;SLC12A4,downstream_gene_variant,,ENST00000573702,;LCAT,upstream_gene_variant,,ENST00000573846,;SLC12A4,downstream_gene_variant,,ENST00000574665,;LCAT,upstream_gene_variant,,ENST00000575277,;LCAT,upstream_gene_variant,,ENST00000575467,;SLC12A4,downstream_gene_variant,,ENST00000576377,;SLC12A4,downstream_gene_variant,,ENST00000576513,; A ENSG00000124067 ENST00000422611 Transcript missense_variant 2492/4670 2452/3264 818/1087 R/C Cgc/Tgc rs747319073,COSV99863363 1 NA -1 SLC12A4 HGNC HGNC:10913 protein_coding YES CCDS54032.1 ENSP00000395983 Q9UP95.181 UPI00019863A8 NM_001145962.1 tolerated(0.06) possibly_damaging(0.814) 18/23 PANTHER:PTHR11827,PANTHER:PTHR11827:SF46,Pfam:PF03522,TIGRFAM:TIGR00930 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE NA SNV 2 NA 0,1 NA NA . CGC . 496.6 8.086e-06 NA 2.892e-05 NA 5.441e-05 NA NA NA NA 67946332 SLC12A4 6560 . GRCh38 chr16 67952006 67952006 + Missense_Mutation SNP G G C novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.955C>G p.Arg319Gly p.R319G ENST00000422611 7/23 NA NA NA NA NA NA SLC12A4,missense_variant,p.Arg317Gly,ENST00000316341,NM_001145961.2,NM_005072.5;SLC12A4,missense_variant,p.Arg319Gly,ENST00000422611,NM_001145962.1;SLC12A4,missense_variant,p.Arg317Gly,ENST00000576616,;SLC12A4,missense_variant,p.Arg286Gly,ENST00000541864,NM_001145964.2;SLC12A4,missense_variant,p.Arg269Gly,ENST00000572037,;SLC12A4,missense_variant,p.Arg311Gly,ENST00000537830,NM_001145963.2;SLC12A4,downstream_gene_variant,,ENST00000571299,;SLC12A4,downstream_gene_variant,,ENST00000572010,;SLC12A4,3_prime_UTR_variant,,ENST00000576377,;SLC12A4,non_coding_transcript_exon_variant,,ENST00000570802,;SLC12A4,non_coding_transcript_exon_variant,,ENST00000573023,;SLC12A4,upstream_gene_variant,,ENST00000572476,;SLC12A4,upstream_gene_variant,,ENST00000572766,;SLC12A4,upstream_gene_variant,,ENST00000573702,;SLC12A4,upstream_gene_variant,,ENST00000574665,;SLC12A4,upstream_gene_variant,,ENST00000575857,;SLC12A4,upstream_gene_variant,,ENST00000576513,;,regulatory_region_variant,,ENSR00001002895,; C ENSG00000124067 ENST00000422611 Transcript missense_variant 995/4670 955/3264 319/1087 R/G Cgg/Ggg 1 NA -1 SLC12A4 HGNC HGNC:10913 protein_coding YES CCDS54032.1 ENSP00000395983 Q9UP95.181 UPI00019863A8 NM_001145962.1 tolerated(0.21) benign(0.013) 7/23 PANTHER:PTHR11827,PANTHER:PTHR11827:SF46,TIGRFAM:TIGR00930,Prints:PR01081 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 2 NA NA NA . CGG . 4411.6 NA NA NA NA NA NA NA NA NA 67952006 DPEP3 64180 . GRCh38 chr16 67975937 67975937 + Missense_Mutation SNP G G A rs1288158198 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1370C>T p.Thr457Ile p.T457I ENST00000672962 10/10 NA NA NA NA NA NA DPEP3,missense_variant,p.Thr457Ile,ENST00000672962,;DPEP3,missense_variant,p.Thr432Ile,ENST00000268793,NM_001129758.2,NM_001370198.1;DPEP3,downstream_gene_variant,,ENST00000574342,; A ENSG00000141096 ENST00000672962 Transcript missense_variant 1464/1737 1370/1542 457/513 T/I aCa/aTa rs1288158198 1 NA -1 DPEP3 HGNC HGNC:23029 protein_coding YES CCDS10856.1 ENSP00000500237 A0A5F9ZHB4.3 UPI000006F093 tolerated(0.09) benign(0.012) 10/10 PROSITE_profiles:PS51365,PANTHER:PTHR10443,PANTHER:PTHR10443:SF14,Gene3D:3.20.20.140,Superfamily:SSF51556 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV NA NA NA NA . TGT . 4381.6 3.992e-06 NA NA NA NA NA 8.846e-06 NA NA 67975937 NFAT5 10725 . GRCh38 chr16 69653280 69653280 + Missense_Mutation SNP T T C novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.857T>C p.Met286Thr p.M286T ENST00000349945 5/15 NA NA NA NA NA NA NFAT5,missense_variant,p.Met286Thr,ENST00000349945,NM_138713.4;NFAT5,missense_variant,p.Met268Thr,ENST00000354436,NM_138714.4,NM_173214.3,NM_006599.4,NM_001367709.1,NM_173215.3;NFAT5,missense_variant,p.Met286Thr,ENST00000567239,NM_001113178.3;NFAT5,intron_variant,,ENST00000565301,;NFAT5,missense_variant,p.Met16Thr,ENST00000563474,;NFAT5,synonymous_variant,p.Tyr128=,ENST00000627621,;NFAT5,synonymous_variant,p.Tyr128=,ENST00000650987,;NFAT5,3_prime_UTR_variant,,ENST00000426654,;NFAT5,3_prime_UTR_variant,,ENST00000393742,;NFAT5,3_prime_UTR_variant,,ENST00000566899,;NFAT5,3_prime_UTR_variant,,ENST00000567990,; C ENSG00000102908 ENST00000349945 Transcript missense_variant 1193/13289 857/4650 286/1549 M/T aTg/aCg 1 NA 1 NFAT5 HGNC HGNC:7774 protein_coding YES CCDS45518.1 ENSP00000338806 O94916.201 UPI000049DE1B NM_138713.4 tolerated(0.9) benign(0.031) 5/15 PROSITE_profiles:PS50254,PANTHER:PTHR12533,PANTHER:PTHR12533:SF10 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . ATG . 1262.6 NA NA NA NA NA NA NA NA NA 69653280 MTSS2 92154 . GRCh38 chr16 70664244 70664244 + Frame_Shift_Del DEL G G - novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1677del p.Gly560AlafsTer34 p.G560Afs*34 ENST00000338779 15/15 NA NA NA NA NA NA MTSS2,frameshift_variant,p.Gly560AlafsTer34,ENST00000338779,NM_138383.3;MTSS2,frameshift_variant,p.Gly559AlafsTer34,ENST00000616026,;IL34,downstream_gene_variant,,ENST00000288098,NM_001172772.1;IL34,downstream_gene_variant,,ENST00000429149,NM_152456.2,NM_001172771.2;IL34,downstream_gene_variant,,ENST00000566361,;AC020763.4,non_coding_transcript_exon_variant,,ENST00000623414,; - ENSG00000132613 ENST00000338779 Transcript frameshift_variant 1939/4979 1677/2244 559/747 P/X ccC/cc 1 NA -1 MTSS2 HGNC HGNC:25094 protein_coding YES CCDS32476.1 ENSP00000341171 Q765P7.119 UPI00001D627C NM_138383.3 15/15 PANTHER:PTHR15708:SF8,PANTHER:PTHR15708 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 NA NA NA . CCGG . 3623.6 NA NA NA NA NA NA NA NA NA 70664243 MTSS2 92154 . GRCh38 chr16 70678359 70678359 + Missense_Mutation SNP C C T rs368105866 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.517G>A p.Asp173Asn p.D173N ENST00000338779 8/15 NA NA NA NA NA NA MTSS2,missense_variant,p.Asp173Asn,ENST00000338779,NM_138383.3;MTSS2,missense_variant,p.Asp172Asn,ENST00000616026,;MTSS2,missense_variant,p.Asp92Asn,ENST00000576338,;MTSS2,upstream_gene_variant,,ENST00000562883,; T ENSG00000132613 ENST00000338779 Transcript missense_variant 779/4979 517/2244 173/747 D/N Gac/Aac rs368105866 1 NA -1 MTSS2 HGNC HGNC:25094 protein_coding YES CCDS32476.1 ENSP00000341171 Q765P7.119 UPI00001D627C NM_138383.3 deleterious(0.02) probably_damaging(0.949) 8/15 Coiled-coils_(Ncoils):Coil,PROSITE_profiles:PS51338,CDD:cd07643,PANTHER:PTHR15708:SF8,PANTHER:PTHR15708,Gene3D:1.20.1270.60,Pfam:PF08397,Superfamily:SSF103657 2e-04 NA NA NA NA NA 0.001 0.0002275 NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . TCG . 2466.6 1.199e-05 6.184e-05 NA NA NA NA NA NA 6.533e-05 70678359 HYDIN 54768 . GRCh38 chr16 70974615 70974615 + Nonsense_Mutation SNP G G A rs1433345002 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4828C>T p.Arg1610Ter p.R1610* ENST00000393567 32/86 NA NA NA NA NA NA HYDIN,stop_gained,p.Arg1610Ter,ENST00000393567,NM_001270974.2;HYDIN,upstream_gene_variant,,ENST00000309900,;HYDIN,upstream_gene_variant,,ENST00000543521,; A ENSG00000157423 ENST00000393567 Transcript stop_gained 5012/21046 4828/15366 1610/5121 R/* Cga/Tga rs1433345002,COSV59269107 1 NA -1 HYDIN HGNC HGNC:19368 protein_coding YES CCDS59269.1 ENSP00000377197 Q4G0P3.138 UPI0001FEF4F9 NM_001270974.2 32/86 Gene3D:2.60.40.10,PANTHER:PTHR23053 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA HIGH 1 SNV 5 NA 0,1 NA 1 . CGG . 753.6 8.793e-06 NA NA NA NA NA 1.882e-05 NA NA 70974615 CMTR2 55783 . GRCh38 chr16 71284995 71284995 + Missense_Mutation SNP C C T NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.926G>A p.Gly309Glu p.G309E ENST00000434935 3/3 NA NA NA NA NA NA CMTR2,missense_variant,p.Gly309Glu,ENST00000434935,NM_001324377.2,NM_001324379.2,NM_018348.6,NM_001324378.2,NM_001099642.2;CMTR2,missense_variant,p.Gly309Glu,ENST00000338099,NM_001324374.2;CMTR2,downstream_gene_variant,,ENST00000563876,;CMTR2,downstream_gene_variant,,ENST00000564183,;CMTR2,downstream_gene_variant,,ENST00000565850,;CMTR2,downstream_gene_variant,,ENST00000567610,;CMTR2,downstream_gene_variant,,ENST00000568910,;AC106736.1,upstream_gene_variant,,ENST00000567721,;AC106736.1,upstream_gene_variant,,ENST00000655293,;AC106736.1,upstream_gene_variant,,ENST00000666391,;CMTR2,downstream_gene_variant,,ENST00000564690,; T ENSG00000180917 ENST00000434935 Transcript missense_variant 1272/4875 926/2313 309/770 G/E gGa/gAa COSV57603391 1 NA -1 CMTR2 HGNC HGNC:25635 protein_coding YES CCDS10898.1 ENSP00000411148 Q8IYT2.119 UPI000006EA8B NM_001324377.2,NM_001324379.2,NM_018348.6,NM_001324378.2,NM_001099642.2 deleterious(0) probably_damaging(1) 3/3 PROSITE_profiles:PS51614,PANTHER:PTHR16121,PANTHER:PTHR16121:SF2,Gene3D:3.40.50.12760,Pfam:PF01728,Superfamily:SSF53335 NA NA NA NA NA NA NA NA NA 1 NA NA NA NA MODERATE 1 SNV 1 NA 1 NA NA . TCC . 3058.6 NA NA NA NA NA NA NA NA NA 71284995 ZNF19 7567 . GRCh38 chr16 71478879 71478879 + Missense_Mutation SNP C C A NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.160G>T p.Gly54Trp p.G54W ENST00000288177 4/6 NA NA NA NA NA NA ZNF19,missense_variant,p.Gly54Trp,ENST00000288177,NM_006961.4;ZNF19,missense_variant,p.Gly54Trp,ENST00000567225,;ZNF19,missense_variant,p.Gly12Trp,ENST00000565637,;ZNF19,missense_variant,p.Gly54Trp,ENST00000564230,;ZNF19,missense_variant,p.Gly41Trp,ENST00000561469,;ZNF19,missense_variant,p.Gly54Trp,ENST00000568815,;ZNF19,missense_variant,p.Gly54Trp,ENST00000564225,;ZNF19,intron_variant,,ENST00000565100,;ZNF19,downstream_gene_variant,,ENST00000566202,;ZNF19,downstream_gene_variant,,ENST00000569072,;ZNF19,stop_gained,p.Gly54Ter,ENST00000565541,;AC010547.4,missense_variant,p.Gly42Trp,ENST00000648971,;AC010547.4,missense_variant,p.Gly54Trp,ENST00000561908,;ZNF19,splice_region_variant,,ENST00000569717,;ZNF19,non_coding_transcript_exon_variant,,ENST00000562210,; A ENSG00000157429 ENST00000288177 Transcript missense_variant,splice_region_variant 402/3206 160/1377 54/458 G/W Ggg/Tgg COSV99867116 1 NA -1 ZNF19 HGNC HGNC:12981 protein_coding YES CCDS10901.1 ENSP00000288177 P17023.192 UPI00001E0590 NM_006961.4 deleterious(0) probably_damaging(1) 4/6 Pfam:PF01352,PROSITE_profiles:PS50805,PANTHER:PTHR24381,PANTHER:PTHR24381:SF59,SMART:SM00349,Superfamily:SSF109640 NA NA NA NA NA NA NA NA NA 1 NA NA NA NA MODERATE 1 SNV 1 NA 1 NA NA . CCC . 2029.6 NA NA NA NA NA NA NA NA NA 71478879 ATXN1L 342371 . GRCh38 chr16 71851189 71851189 + Silent SNP G G A rs751342695 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1449G>A p.Lys483= p.K483= ENST00000427980 3/3 NA NA NA NA NA NA ATXN1L,synonymous_variant,p.Lys483=,ENST00000427980,NM_001137675.4;IST1,intron_variant,,ENST00000568581,;ATXN1L,intron_variant,,ENST00000569119,;ATXN1L,downstream_gene_variant,,ENST00000565676,; A ENSG00000224470 ENST00000427980 Transcript synonymous_variant 1757/7896 1449/2070 483/689 K aaG/aaA rs751342695 1 NA 1 ATXN1L HGNC HGNC:33279 protein_coding YES CCDS45523.1 ENSP00000415822 P0C7T5.100 UPI0000198982 NM_001137675.4 3/3 PROSITE_profiles:PS51148,PANTHER:PTHR13392:SF6,PANTHER:PTHR13392,Pfam:PF08517,Gene3D:2.170.16.10,SMART:SM00536,Superfamily:SSF102031 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . AGC . 7378.6 3.245e-05 NA 0.000162 NA NA NA 1.675e-05 NA NA 71851189 ZFHX3 463 . GRCh38 chr16 72794605 72794605 + Nonsense_Mutation SNP G G A NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.8077C>T p.Arg2693Ter p.R2693* ENST00000641206 17/18 NA NA NA NA NA NA ZFHX3,stop_gained,p.Arg2693Ter,ENST00000641206,;ZFHX3,stop_gained,p.Arg2693Ter,ENST00000268489,NM_006885.4;ZFHX3,stop_gained,p.Arg1779Ter,ENST00000397992,NM_001164766.2;AC004943.2,intron_variant,,ENST00000653037,;AC004943.2,intron_variant,,ENST00000668995,;AC004943.2,downstream_gene_variant,,ENST00000563328,; A ENSG00000140836 ENST00000641206 Transcript stop_gained 9905/17219 8077/11112 2693/3703 R/* Cga/Tga COSV51743942 1 NA -1 ZFHX3 HGNC HGNC:777 protein_coding YES CCDS10908.1 ENSP00000493252 Q15911.195 UPI00001AE937 17/18 Gene3D:1.10.10.60,PDB-ENSP_mappings:2da3.A,Pfam:PF00046,PROSITE_patterns:PS00027,PROSITE_profiles:PS50071,PANTHER:PTHR45891,PANTHER:PTHR45891:SF4,SMART:SM00389,Superfamily:SSF46689,Superfamily:SSF57667,CDD:cd00086 NA NA NA NA NA NA NA NA NA 1 NA NA NA NA HIGH NA SNV NA NA 1 NA 1 . CGG . 4158.6 NA NA NA NA NA NA NA NA NA 72794605 ZFHX3 463 . GRCh38 chr16 72958694 72958694 + Silent SNP C C T rs760050481 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1452G>A p.Glu484= p.E484= ENST00000641206 10/18 NA NA NA NA NA NA ZFHX3,synonymous_variant,p.Glu484=,ENST00000641206,;ZFHX3,synonymous_variant,p.Glu484=,ENST00000268489,NM_006885.4;ZFHX3,intron_variant,,ENST00000397992,NM_001164766.2; T ENSG00000140836 ENST00000641206 Transcript synonymous_variant 3280/17219 1452/11112 484/3703 E gaG/gaA rs760050481,COSV51730802 1 NA -1 ZFHX3 HGNC HGNC:777 protein_coding YES CCDS10908.1 ENSP00000493252 Q15911.195 UPI00001AE937 10/18 Coiled-coils_(Ncoils):Coil,PANTHER:PTHR45891,PANTHER:PTHR45891:SF4,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA LOW 1 SNV NA NA 0,1 NA 1 . CCT . 1553.6 7.961e-06 NA 2.892e-05 NA NA NA 8.801e-06 NA NA 72958694 NPIPB15 440348 . GRCh38 chr16 74391671 74391671 + Missense_Mutation SNP C C T rs11641596 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.923C>T p.Pro308Leu p.P308L ENST00000429990 7/7 NA NA NA NA NA NA NPIPB15,missense_variant,p.Pro308Leu,ENST00000429990,NM_001306094.1;AC009053.4,downstream_gene_variant,,ENST00000614366,; T ENSG00000196436 ENST00000429990 Transcript missense_variant 1019/1428 923/1332 308/443 P/L cCc/cTc rs11641596 1 NA 1 NPIPB15 HGNC HGNC:34409 protein_coding YES CCDS76897.1 ENSP00000411140 A6NHN6.89 UPI000198C783 NM_001306094.1 deleterious_low_confidence(0.01) probably_damaging(0.988) 7/7 Low_complexity_(Seg):seg,PANTHER:PTHR15438,PANTHER:PTHR15438:SF4 NA NA NA NA NA NA NA 0.3212 0.4047 NA NA NA NA MODERATE 1 SNV 5 NA NA NA . CCC . 44275.6 NA NA NA NA NA NA NA NA NA 74391671 CLEC18B 497190 . GRCh38 chr16 74409592 74409592 + Missense_Mutation SNP C C T rs200676113 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1288G>A p.Asp430Asn p.D430N ENST00000339953 12/13 NA NA NA NA NA NA CLEC18B,missense_variant,p.Asp421Asn,ENST00000617101,;CLEC18B,missense_variant,p.Asp421Asn,ENST00000619275,;CLEC18B,missense_variant,p.Asp430Asn,ENST00000339953,NM_001011880.2;CLEC18B,3_prime_UTR_variant,,ENST00000620745,;CLEC18B,downstream_gene_variant,,ENST00000425714,;CLEC18B,downstream_gene_variant,,ENST00000564842,; T ENSG00000140839 ENST00000339953 Transcript missense_variant 1410/1865 1288/1368 430/455 D/N Gac/Aac rs200676113 1 NA -1 CLEC18B HGNC HGNC:33849 protein_coding YES CCDS32484.1 ENSP00000341051 Q6UXF7.142 UPI000025210E NM_001011880.2 deleterious_low_confidence(0.02) probably_damaging(0.999) 12/13 CDD:cd00037,Pfam:PF00059,Gene3D:3.10.100.10,SMART:SM00034,Superfamily:SSF56436,PROSITE_profiles:PS50041,PROSITE_patterns:PS00615 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . TCG . 153.6 2.8e-05 6.227e-05 NA NA NA NA 2.654e-05 NA 9.831e-05 74409592 CLEC18B 497190 . GRCh38 chr16 74413610 74413610 + Missense_Mutation SNP T T A rs760272968 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.523A>T p.Ile175Leu p.I175L ENST00000339953 4/13 NA NA NA NA NA NA CLEC18B,missense_variant,p.Ile175Leu,ENST00000617101,;CLEC18B,missense_variant,p.Ile175Leu,ENST00000619275,;CLEC18B,missense_variant,p.Ile175Leu,ENST00000339953,NM_001011880.2;CLEC18B,missense_variant,p.Ile175Leu,ENST00000620745,;CLEC18B,non_coding_transcript_exon_variant,,ENST00000425714,;CLEC18B,upstream_gene_variant,,ENST00000564842,;,regulatory_region_variant,,ENSR00000281472,; A ENSG00000140839 ENST00000339953 Transcript missense_variant 645/1865 523/1368 175/455 I/L Ata/Tta rs760272968 1 NA -1 CLEC18B HGNC HGNC:33849 protein_coding YES CCDS32484.1 ENSP00000341051 Q6UXF7.142 UPI000025210E NM_001011880.2 tolerated(0.84) benign(0) 4/13 CDD:cd05380,Pfam:PF00188,Gene3D:3.40.33.10,SMART:SM00198,Superfamily:SSF55797,PANTHER:PTHR10334,PANTHER:PTHR10334:SF245 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . ATC . 386.6 6.376e-05 0.0001847 2.892e-05 NA NA 4.622e-05 9.71e-05 NA NA 74413610 ZNRF1 84937 . GRCh38 chr16 74999704 74999704 + Silent SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.33C>T p.Ser11= p.S11= ENST00000320619 1/6 NA NA NA NA NA NA ZNRF1,synonymous_variant,p.Ser11=,ENST00000335325,NM_032268.5;ZNRF1,synonymous_variant,p.Ser11=,ENST00000320619,;ZNRF1,synonymous_variant,p.Ser11=,ENST00000567962,;ZNRF1,synonymous_variant,p.Ser11=,ENST00000566250,;ZNRF1,upstream_gene_variant,,ENST00000568511,;WDR59,intron_variant,,ENST00000568323,;WDR59,upstream_gene_variant,,ENST00000562331,;ZNRF1,upstream_gene_variant,,ENST00000564320,;,regulatory_region_variant,,ENSR00000087929,; T ENSG00000186187 ENST00000320619 Transcript synonymous_variant 668/2479 33/837 11/278 S tcC/tcT 1 NA 1 ZNRF1 HGNC HGNC:18452 protein_coding YES ENSP00000323362 Q8ND25.138 UPI00001FFC03 1/6 MobiDB_lite:mobidb-lite,PANTHER:PTHR46661:SF2,PANTHER:PTHR46661 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . CCC . 40.6 NA NA NA NA NA NA NA NA NA 74999704 BCAR1 9564 . GRCh38 chr16 75229840 75229840 + Missense_Mutation SNP C C T rs974867909 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2422G>A p.Val808Met p.V808M ENST00000418647 8/8 NA NA NA NA NA NA BCAR1,missense_variant,p.Val762Met,ENST00000162330,NM_014567.5;BCAR1,missense_variant,p.Val780Met,ENST00000393422,NM_001170715.3,NM_001170721.2;BCAR1,missense_variant,p.Val808Met,ENST00000418647,NM_001170714.3;BCAR1,missense_variant,p.Val762Met,ENST00000538440,NM_001170718.3;BCAR1,missense_variant,p.Val614Met,ENST00000535626,NM_001170720.3;BCAR1,missense_variant,p.Val760Met,ENST00000542031,NM_001170719.3;BCAR1,missense_variant,p.Val780Met,ENST00000420641,NM_001170716.3;BCAR1,missense_variant,p.Val780Met,ENST00000393420,NM_001170717.3;CTRB1,downstream_gene_variant,,ENST00000361017,NM_001906.6,NM_001329190.2;BCAR1,non_coding_transcript_exon_variant,,ENST00000566982,;AC009078.2,downstream_gene_variant,,ENST00000489723,;AC009078.2,downstream_gene_variant,,ENST00000644987,;BCAR1,3_prime_UTR_variant,,ENST00000562556,;BCAR1,non_coding_transcript_exon_variant,,ENST00000563038,;AC009078.2,downstream_gene_variant,,ENST00000467381,;AC009078.2,downstream_gene_variant,,ENST00000498687,;CTRB1,downstream_gene_variant,,ENST00000642378,;AC009078.2,downstream_gene_variant,,ENST00000463353,; T ENSG00000050820 ENST00000418647 Transcript missense_variant 2706/3387 2422/2751 808/916 V/M Gtg/Atg rs974867909,COSV50793864 1 NA -1 BCAR1 HGNC HGNC:971 protein_coding YES CCDS54040.1 ENSP00000391669 P56945.199 UPI0001AE689B NM_001170714.3 deleterious(0) probably_damaging(0.996) 8/8 CDD:cd11569,PANTHER:PTHR10654,PANTHER:PTHR10654:SF15,Pfam:PF12026,Gene3D:1.20.120.230 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE NA SNV 2 NA 0,1 NA NA . ACG . 7132.6 7.97e-06 NA NA NA NA NA 1.765e-05 NA NA 75229840 KCNG4 93107 . GRCh38 chr16 84222820 84222820 + Silent SNP G G A rs150509470 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.957C>T p.Asp319= p.D319= ENST00000308251 3/3 NA NA NA NA NA NA KCNG4,synonymous_variant,p.Asp319=,ENST00000308251,NM_172347.2; A ENSG00000168418 ENST00000308251 Transcript synonymous_variant 1026/5179 957/1560 319/519 D gaC/gaT rs150509470 1 NA -1 KCNG4 HGNC HGNC:19697 protein_coding YES CCDS10945.1 ENSP00000312129 Q8TDN1.165 Q547S7.130 UPI00000557D8 NM_172347.2 3/3 PANTHER:PTHR11537,PANTHER:PTHR11537:SF167,Pfam:PF00520,Gene3D:1.20.120.350,Superfamily:SSF81324 2e-04 NA NA NA 0.001 NA NA NA 0.0001163 NA NA NA NA LOW 1 SNV 1 NA NA NA . CGT . 9101.6 4.428e-05 NA 0.0001166 NA 5.462e-05 NA 5.349e-05 NA NA 84222820 GSE1 23199 . GRCh38 chr16 85634016 85634016 + Missense_Mutation SNP C C A novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.110C>A p.Ala37Asp p.A37D ENST00000253458 2/16 NA NA NA NA NA NA GSE1,missense_variant,p.Ala37Asp,ENST00000253458,NM_014615.5;GSE1,missense_variant,p.Ala856Asp,ENST00000637419,;GSE1,intron_variant,,ENST00000393243,NM_001278184.3;GSE1,intron_variant,,ENST00000405402,NM_001134473.3;GSE1,intron_variant,,ENST00000411612,;GSE1,intron_variant,,ENST00000635906,;,regulatory_region_variant,,ENSR00001004793,; A ENSG00000131149 ENST00000253458 Transcript missense_variant 180/7385 110/3654 37/1217 A/D gCc/gAc 1 NA 1 GSE1 HGNC HGNC:28979 protein_coding YES CCDS10952.1 ENSP00000253458 Q14687.133 UPI0000185F04 NM_014615.5 deleterious(0) benign(0.04) 2/16 PANTHER:PTHR17608,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . GCC . 2951.6 NA NA NA NA NA NA NA NA NA 85634016 GSE1 23199 . GRCh38 chr16 85656547 85656547 + Silent SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1194G>A p.Leu398= p.L398= ENST00000253458 7/16 NA NA NA NA NA NA GSE1,synonymous_variant,p.Leu398=,ENST00000253458,NM_014615.5;GSE1,synonymous_variant,p.Leu325=,ENST00000393243,NM_001278184.3;GSE1,synonymous_variant,p.Leu205=,ENST00000412692,;GSE1,synonymous_variant,p.Leu294=,ENST00000405402,NM_001134473.3;GSE1,downstream_gene_variant,,ENST00000411612,;GSE1,downstream_gene_variant,,ENST00000635906,;RN7SL381P,upstream_gene_variant,,ENST00000577658,;GSE1,upstream_gene_variant,,ENST00000479488,; A ENSG00000131149 ENST00000253458 Transcript synonymous_variant 1264/7385 1194/3654 398/1217 L ctG/ctA 1 NA 1 GSE1 HGNC HGNC:28979 protein_coding YES CCDS10952.1 ENSP00000253458 Q14687.133 UPI0000185F04 NM_014615.5 7/16 Coiled-coils_(Ncoils):Coil,PANTHER:PTHR17608,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . TGC . 778.6 NA NA NA NA NA NA NA NA NA 85656547 FOXF1 2294 . GRCh38 chr16 86512931 86512931 + Missense_Mutation SNP C C A NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.986C>A p.Pro329Gln p.P329Q ENST00000262426 2/2 NA NA NA NA NA NA FOXF1,missense_variant,p.Pro329Gln,ENST00000262426,NM_001451.3;FENDRR,upstream_gene_variant,,ENST00000593604,;FENDRR,upstream_gene_variant,,ENST00000595886,;FENDRR,upstream_gene_variant,,ENST00000597578,;FENDRR,upstream_gene_variant,,ENST00000598996,;FENDRR,upstream_gene_variant,,ENST00000599749,;FENDRR,upstream_gene_variant,,ENST00000659025,;FENDRR,upstream_gene_variant,,ENST00000659486,;FENDRR,upstream_gene_variant,,ENST00000659545,;FENDRR,upstream_gene_variant,,ENST00000662100,;FENDRR,upstream_gene_variant,,ENST00000667117,;FENDRR,upstream_gene_variant,,ENST00000669311,;FENDRR,upstream_gene_variant,,ENST00000671115,;,regulatory_region_variant,,ENSR00000089172,; A ENSG00000103241 ENST00000262426 Transcript missense_variant 1029/3520 986/1140 329/379 P/Q cCg/cAg COSV99296424 1 NA 1 FOXF1 HGNC HGNC:3809 protein_coding YES CCDS10957.2 ENSP00000262426 Q12946.171 UPI000059D3CC NM_001451.3 deleterious(0) possibly_damaging(0.775) 2/2 PANTHER:PTHR46262:SF1,PANTHER:PTHR46262 NA NA NA NA NA NA NA NA NA 1 NA NA NA NA MODERATE 1 SNV 1 NA 1 NA 1 . CCG . 1072.6 NA NA NA NA NA NA NA NA NA 86512931 ZNF469 84627 . GRCh38 chr16 88436647 88436647 + Silent SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.9177C>T p.Cys3059= p.C3059= ENST00000565624 3/3 NA NA NA NA NA NA ZNF469,synonymous_variant,p.Cys3059=,ENST00000565624,NM_001367624.2;ZNF469,synonymous_variant,p.Cys3031=,ENST00000437464,;,regulatory_region_variant,,ENSR00000281958,; T ENSG00000225614 ENST00000565624 Transcript synonymous_variant 9664/13770 9177/11862 3059/3953 C tgC/tgT 1 NA 1 ZNF469 HGNC HGNC:23216 protein_coding YES ENSP00000456500 H3BS19.62 UPI0004620D6A NM_001367624.2 3/3 PANTHER:PTHR21465 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV NA NA NA 1 . GCT . 10196.6 NA NA NA NA NA NA NA NA NA 88436647 ZNF469 84627 . GRCh38 chr16 88437794 88437795 + Frame_Shift_Ins INS - - G rs764470052 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.10332dup p.Arg3445AlafsTer58 p.R3445Afs*58 ENST00000565624 3/3 NA NA NA NA NA NA ZNF469,frameshift_variant,p.Arg3445AlafsTer58,ENST00000565624,NM_001367624.2;ZNF469,frameshift_variant,p.Arg3417AlafsTer58,ENST00000437464,;,regulatory_region_variant,,ENSR00000281958,;,regulatory_region_variant,,ENSR00000545833,; G ENSG00000225614 ENST00000565624 Transcript frameshift_variant 10811-10812/13770 10324-10325/11862 3442/3953 R/RX agg/aGgg rs764470052 1 NA 1 ZNF469 HGNC HGNC:23216 protein_coding YES ENSP00000456500 H3BS19.62 UPI0004620D6A NM_001367624.2 3/3 PROSITE_profiles:PS50157,PANTHER:PTHR21465 NA NA NA NA NA NA NA NA NA likely_pathogenic,pathogenic NA NA NA NA HIGH 1 insertion NA 8 1 NA 1 . CAG . 7403.64 9.225e-05 NA NA NA NA 6.722e-05 0.0001953 0.000244 4.598e-05 88437794 ZFPM1 161882 . GRCh38 chr16 88489057 88489057 + Frame_Shift_Del DEL C C - NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.177del p.Thr60HisfsTer79 p.T60Hfs*79 ENST00000319555 3/10 NA NA NA NA NA NA ZFPM1,frameshift_variant,p.Thr60HisfsTer79,ENST00000319555,NM_153813.3;ZFPM1,frameshift_variant,p.Thr60HisfsTer76,ENST00000569086,;ZFPM1,frameshift_variant,p.Thr60HisfsTer94,ENST00000562437,;ZFPM1,intron_variant,,ENST00000563351,;ZFPM1,non_coding_transcript_exon_variant,,ENST00000562417,; - ENSG00000179588 ENST00000319555 Transcript frameshift_variant 531/5432 172/3021 58/1006 P/X Ccc/cc COSV60321265 1 NA 1 ZFPM1 HGNC HGNC:19762 protein_coding YES CCDS32502.1 ENSP00000326630 Q8IX07.152 UPI000049DE26 NM_153813.3 3/10 PANTHER:PTHR12958,PANTHER:PTHR12958:SF4,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA 1 NA NA NA NA HIGH 1 deletion 1 5 1 NA NA . CGCC . 3251.6 NA NA NA NA NA NA NA NA NA 88489056 ZC3H18 124245 . GRCh38 chr16 88624732 88624733 + Frame_Shift_Ins INS - - C rs751577786 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2109dup p.Arg704GlnfsTer14 p.R704Qfs*14 ENST00000452588 13/19 NA NA NA NA NA NA ZC3H18,frameshift_variant,p.Arg680GlnfsTer14,ENST00000301011,NM_144604.4;ZC3H18,frameshift_variant,p.Arg704GlnfsTer14,ENST00000452588,NM_001294340.2;ZC3H18,frameshift_variant,p.Arg54GlnfsTer14,ENST00000564341,;ZC3H18,upstream_gene_variant,,ENST00000565583,;ZC3H18,downstream_gene_variant,,ENST00000567085,;ZC3H18,non_coding_transcript_exon_variant,,ENST00000564161,;ZC3H18,non_coding_transcript_exon_variant,,ENST00000563382,;ZC3H18,upstream_gene_variant,,ENST00000566317,;ZC3H18,upstream_gene_variant,,ENST00000566496,; C ENSG00000158545 ENST00000452588 Transcript frameshift_variant 2279-2280/3211 2101-2102/2934 701/977 T/TX acc/aCcc rs751577786 1 NA 1 ZC3H18 HGNC HGNC:25091 protein_coding YES CCDS73924.1 ENSP00000416951 E7ERS3.68 UPI0001AE683F NM_001294340.2 13/19 PANTHER:PTHR46582,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 insertion 2 8 NA NA . GAC . 1569.64 4.199e-05 6.629e-05 2.991e-05 NA NA NA 7.551e-05 NA NA 88624732 ZC3H18 124245 . GRCh38 chr16 88628760 88628760 + Splice_Region SNP G G A rs372841190 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2544G>A p.Ala848= p.A848= ENST00000452588 17/19 NA NA NA NA NA NA ZC3H18,splice_region_variant,p.Ala824=,ENST00000301011,NM_144604.4;ZC3H18,splice_region_variant,p.Ala848=,ENST00000452588,NM_001294340.2;ZC3H18,splice_region_variant,p.Ala67=,ENST00000565583,;ZC3H18,intron_variant,,ENST00000564341,;ZC3H18,splice_region_variant,,ENST00000566496,;ZC3H18,non_coding_transcript_exon_variant,,ENST00000566317,;ZC3H18,downstream_gene_variant,,ENST00000563382,;ZC3H18,downstream_gene_variant,,ENST00000564161,;ZC3H18,upstream_gene_variant,,ENST00000566660,;,regulatory_region_variant,,ENSR00000089550,;,regulatory_region_variant,,ENSR00000545923,;,TF_binding_site_variant,,ENSM00194957318,;,TF_binding_site_variant,,ENSM00524142863,; A ENSG00000158545 ENST00000452588 Transcript splice_region_variant,synonymous_variant 2722/3211 2544/2934 848/977 A gcG/gcA rs372841190 1 NA 1 ZC3H18 HGNC HGNC:25091 protein_coding YES CCDS73924.1 ENSP00000416951 E7ERS3.68 UPI0001AE683F NM_001294340.2 17/19 PANTHER:PTHR46582,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 2 NA NA NA . CGG . 2994.6 7.956e-06 NA NA NA NA NA NA NA 6.533e-05 88628760 ACSF3 197322 . GRCh38 chr16 89112120 89112120 + Missense_Mutation SNP C C T rs373794208 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.851C>T p.Thr284Met p.T284M ENST00000614302 5/11 NA NA NA NA NA NA ACSF3,missense_variant,p.Thr284Met,ENST00000614302,NM_001243279.3;ACSF3,missense_variant,p.Thr284Met,ENST00000317447,NM_174917.5;ACSF3,missense_variant,p.Thr284Met,ENST00000406948,NM_001127214.4;ACSF3,missense_variant,p.Thr19Met,ENST00000378345,NM_001284316.2;ACSF3,missense_variant,p.Thr32Met,ENST00000543676,;ACSF3,missense_variant,p.Thr19Met,ENST00000544543,;ACSF3,missense_variant,p.Thr19Met,ENST00000540697,;ACSF3,missense_variant,p.Thr19Met,ENST00000537895,;ACSF3,missense_variant,p.Thr59Met,ENST00000538340,;AC135782.3,downstream_gene_variant,,ENST00000562782,;ACSF3,upstream_gene_variant,,ENST00000562204,;ACSF3,missense_variant,p.Thr284Met,ENST00000649953,;ACSF3,missense_variant,p.Thr284Met,ENST00000542688,; T ENSG00000176715 ENST00000614302 Transcript missense_variant 1189/4095 851/1731 284/576 T/M aCg/aTg rs373794208,COSV58077600 1 NA 1 ACSF3 HGNC HGNC:27288 protein_coding YES CCDS10974.1 ENSP00000479130 Q4G176.123 UPI00001AF19E NM_001243279.3 tolerated(0.09) possibly_damaging(0.738) 5/11 CDD:cd05941,PANTHER:PTHR24096,PANTHER:PTHR24096:SF267,Pfam:PF00501,Gene3D:3.40.50.12780,Superfamily:SSF56801 2e-04 NA NA NA NA NA 0.001 NA NA 0,1 NA NA NA NA MODERATE 1 SNV 5 NA 0,1 NA 1 . ACG . 536.6 1.305e-05 NA NA NA NA NA 9.458e-06 0.0001869 3.567e-05 89112120 ANKRD11 29123 . GRCh38 chr16 89281060 89281060 + Missense_Mutation SNP A A G novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.5482T>C p.Ser1828Pro p.S1828P ENST00000301030 9/13 NA NA NA NA NA NA ANKRD11,missense_variant,p.Ser1828Pro,ENST00000301030,NM_001256183.2,NM_013275.6;ANKRD11,missense_variant,p.Ser1828Pro,ENST00000378330,NM_001256182.2;ANKRD11,missense_variant,p.Ser1828Pro,ENST00000642600,;ANKRD11,intron_variant,,ENST00000644285,;ANKRD11,downstream_gene_variant,,ENST00000613312,;ANKRD11,downstream_gene_variant,,ENST00000642443,;ANKRD11,3_prime_UTR_variant,,ENST00000330736,;ANKRD11,intron_variant,,ENST00000562194,;ANKRD11,downstream_gene_variant,,ENST00000568100,;ANKRD11,upstream_gene_variant,,ENST00000623388,;ANKRD11,downstream_gene_variant,,ENST00000645212,;ANKRD11,downstream_gene_variant,,ENST00000646345,; G ENSG00000167522 ENST00000301030 Transcript missense_variant 5943/9301 5482/7992 1828/2663 S/P Tcg/Ccg 1 NA -1 ANKRD11 HGNC HGNC:21316 protein_coding YES CCDS32513.1 ENSP00000301030 Q6UB99.142 UPI00004569E1 NM_001256183.2,NM_013275.6 tolerated(0.2) benign(0.043) 9/13 PANTHER:PTHR24145 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA 1 . GAG . 17059.6 NA NA NA NA NA NA NA NA NA 89281060 ANKRD11 29123 . GRCh38 chr16 89283232 89283233 + Frame_Shift_Ins INS - - T rs772267579 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3309dup p.Asp1104ArgfsTer2 p.D1104Rfs*2 ENST00000301030 9/13 NA NA NA NA NA NA ANKRD11,frameshift_variant,p.Asp1104ArgfsTer2,ENST00000301030,NM_001256183.2,NM_013275.6;ANKRD11,frameshift_variant,p.Asp1104ArgfsTer2,ENST00000378330,NM_001256182.2;ANKRD11,frameshift_variant,p.Asp1104ArgfsTer2,ENST00000642600,;ANKRD11,intron_variant,,ENST00000644285,;ANKRD11,downstream_gene_variant,,ENST00000613312,;ANKRD11,downstream_gene_variant,,ENST00000642333,;ANKRD11,downstream_gene_variant,,ENST00000642443,;ANKRD11,downstream_gene_variant,,ENST00000642695,;ANKRD11,downstream_gene_variant,,ENST00000644784,;ANKRD11,downstream_gene_variant,,ENST00000646838,;ANKRD11,downstream_gene_variant,,ENST00000646975,;ANKRD11,downstream_gene_variant,,ENST00000567699,;ANKRD11,3_prime_UTR_variant,,ENST00000330736,;ANKRD11,intron_variant,,ENST00000562194,;ANKRD11,downstream_gene_variant,,ENST00000378332,;ANKRD11,downstream_gene_variant,,ENST00000562275,;ANKRD11,downstream_gene_variant,,ENST00000568100,;ANKRD11,upstream_gene_variant,,ENST00000623388,;ANKRD11,downstream_gene_variant,,ENST00000643964,;ANKRD11,downstream_gene_variant,,ENST00000645212,;ANKRD11,downstream_gene_variant,,ENST00000646345,; T ENSG00000167522 ENST00000301030 Transcript frameshift_variant 3770-3771/9301 3309-3310/7992 1103-1104/2663 -/X -/A rs772267579 1 NA -1 ANKRD11 HGNC HGNC:21316 protein_coding YES CCDS32513.1 ENSP00000301030 Q6UB99.142 UPI00004569E1 NM_001256183.2,NM_013275.6 9/13 PANTHER:PTHR24145,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA pathogenic NA NA NA NA HIGH 1 insertion 5 NA 1 NA 1 . TCT . 5473.64 7.97e-06 NA NA NA NA 9.388e-05 NA NA NA 89283232 ANKRD11 29123 . GRCh38 chr16 89290680 89290680 + Silent SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.546G>A p.Arg182= p.R182= ENST00000301030 6/13 NA NA NA NA NA NA ANKRD11,synonymous_variant,p.Arg182=,ENST00000301030,NM_001256183.2,NM_013275.6;ANKRD11,synonymous_variant,p.Arg182=,ENST00000378330,NM_001256182.2;ANKRD11,synonymous_variant,p.Arg182=,ENST00000642600,;ANKRD11,synonymous_variant,p.Arg182=,ENST00000642695,;ANKRD11,synonymous_variant,p.Arg182=,ENST00000644784,;ANKRD11,synonymous_variant,p.Arg182=,ENST00000646838,;ANKRD11,synonymous_variant,p.Arg182=,ENST00000642333,;ANKRD11,synonymous_variant,p.Arg182=,ENST00000644285,;ANKRD11,synonymous_variant,p.Arg182=,ENST00000613312,;ANKRD11,synonymous_variant,p.Arg182=,ENST00000646975,;ANKRD11,intron_variant,,ENST00000642443,;ANKRD11,downstream_gene_variant,,ENST00000646166,;ANKRD11,downstream_gene_variant,,ENST00000647213,;ANKRD11,intron_variant,,ENST00000567699,;ANKRD11,downstream_gene_variant,,ENST00000562816,;ANKRD11,downstream_gene_variant,,ENST00000645844,;ANKRD11,3_prime_UTR_variant,,ENST00000330736,;ANKRD11,3_prime_UTR_variant,,ENST00000643964,;ANKRD11,3_prime_UTR_variant,,ENST00000562275,;ANKRD11,3_prime_UTR_variant,,ENST00000378332,;ANKRD11,3_prime_UTR_variant,,ENST00000645278,;ANKRD11,non_coding_transcript_exon_variant,,ENST00000646345,;ANKRD11,upstream_gene_variant,,ENST00000562194,;ANKRD11,downstream_gene_variant,,ENST00000564553,;ANKRD11,upstream_gene_variant,,ENST00000568100,;ANKRD11,upstream_gene_variant,,ENST00000645212,;,regulatory_region_variant,,ENSR00001005436,;,TF_binding_site_variant,,ENSM00524608918,; T ENSG00000167522 ENST00000301030 Transcript synonymous_variant 1007/9301 546/7992 182/2663 R cgG/cgA 1 NA -1 ANKRD11 HGNC HGNC:21316 protein_coding YES CCDS32513.1 ENSP00000301030 Q6UB99.142 UPI00004569E1 NM_001256183.2,NM_013275.6 6/13 Gene3D:1.25.40.20,Pfam:PF12796,PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,PANTHER:PTHR24145,SMART:SM00248,Superfamily:SSF48403 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA 1 . GCC . 1666.6 NA NA NA NA NA NA NA NA NA 89290680 ANKRD11 29123 . GRCh38 chr16 89305265 89305265 + Missense_Mutation SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.167G>A p.Ser56Asn p.S56N ENST00000301030 4/13 NA NA NA NA NA NA ANKRD11,missense_variant,p.Ser56Asn,ENST00000301030,NM_001256183.2,NM_013275.6;ANKRD11,missense_variant,p.Ser56Asn,ENST00000378330,NM_001256182.2;ANKRD11,missense_variant,p.Ser56Asn,ENST00000642600,;ANKRD11,missense_variant,p.Ser56Asn,ENST00000642443,;ANKRD11,missense_variant,p.Ser56Asn,ENST00000642695,;ANKRD11,missense_variant,p.Ser56Asn,ENST00000567736,;ANKRD11,missense_variant,p.Ser56Asn,ENST00000644784,;ANKRD11,missense_variant,p.Ser56Asn,ENST00000646838,;ANKRD11,missense_variant,p.Ser56Asn,ENST00000642333,;ANKRD11,missense_variant,p.Ser56Asn,ENST00000644285,;ANKRD11,missense_variant,p.Ser56Asn,ENST00000613312,;ANKRD11,missense_variant,p.Ser56Asn,ENST00000646975,;ANKRD11,missense_variant,p.Ser56Asn,ENST00000647238,;ANKRD11,missense_variant,p.Ser56Asn,ENST00000644045,;ANKRD11,missense_variant,p.Ser56Asn,ENST00000563291,;ANKRD11,missense_variant,p.Ser56Asn,ENST00000566858,;ANKRD11,missense_variant,p.Ser30Asn,ENST00000646166,;ANKRD11,5_prime_UTR_variant,,ENST00000647213,;ANKRD11,intron_variant,,ENST00000645664,;ANKRD11,non_coding_transcript_exon_variant,,ENST00000562816,;ANKRD11,non_coding_transcript_exon_variant,,ENST00000567699,;ANKRD11,non_coding_transcript_exon_variant,,ENST00000645844,;ANKRD11,non_coding_transcript_exon_variant,,ENST00000647539,;ANKRD11,missense_variant,p.Ser56Asn,ENST00000330736,;ANKRD11,missense_variant,p.Ser56Asn,ENST00000643964,;ANKRD11,missense_variant,p.Ser56Asn,ENST00000562275,;ANKRD11,missense_variant,p.Ser56Asn,ENST00000645278,;ANKRD11,3_prime_UTR_variant,,ENST00000378332,;ANKRD11,non_coding_transcript_exon_variant,,ENST00000643147,;ANKRD11,non_coding_transcript_exon_variant,,ENST00000564553,;ANKRD11,intron_variant,,ENST00000568924,;ANKRD11,upstream_gene_variant,,ENST00000646345,; T ENSG00000167522 ENST00000301030 Transcript missense_variant 628/9301 167/7992 56/2663 S/N aGc/aAc 1 NA -1 ANKRD11 HGNC HGNC:21316 protein_coding YES CCDS32513.1 ENSP00000301030 Q6UB99.142 UPI00004569E1 NM_001256183.2,NM_013275.6 deleterious(0.02) benign(0.037) 4/13 PANTHER:PTHR24145,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA 1 . GCT . 1894.6 NA NA NA NA NA NA NA NA NA 89305265 SCGB1C2 653486 . GRCh38 chr17 138213 138213 + Silent SNP G G A rs1398701246 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.66G>A p.Thr22= p.T22= ENST00000595228 2/3 NA NA NA NA NA NA SCGB1C2,synonymous_variant,p.Thr22=,ENST00000595228,NM_001097610.3;DOC2B,downstream_gene_variant,,ENST00000613549,NM_003585.5; A ENSG00000268320 ENST00000595228 Transcript synonymous_variant 88/435 66/288 22/95 T acG/acA rs1398701246 1 NA 1 SCGB1C2 HGNC HGNC:51242 protein_coding YES CCDS73933.1 ENSP00000471646 P0DMR2.36 UPI000006EC7F NM_001097610.3 2/3 Pfam:PF01099,PANTHER:PTHR10136,PANTHER:PTHR10136:SF8,Cleavage_site_(Signalp):SignalP-noTM NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . CGG . 4423.03 NA NA NA NA NA NA NA NA NA 138213 DOC2B 8447 . GRCh38 chr17 149134 149134 + Frame_Shift_Del DEL T T - novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.982del p.Thr328ProfsTer2 p.T328Pfs*2 ENST00000613549 7/9 NA NA NA NA NA NA DOC2B,frameshift_variant,p.Thr328ProfsTer2,ENST00000613549,NM_003585.5; - ENSG00000272636 ENST00000613549 Transcript frameshift_variant 1153/6062 982/1239 328/412 T/X Acc/cc 1 NA -1 DOC2B HGNC HGNC:2986 protein_coding YES CCDS73934.1 ENSP00000482950 Q14184.158 UPI000013ED38 NM_003585.5 7/9 Gene3D:2.60.40.150,Pfam:PF00168,PIRSF:PIRSF036931,Prints:PR00360,PROSITE_profiles:PS50004,PANTHER:PTHR45729,PANTHER:PTHR45729:SF9,SMART:SM00239,Superfamily:SSF49562,CDD:cd08384 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 NA NA NA . GGTT . 849.6 NA NA NA NA NA NA NA NA NA 149133 ABR 29 . GRCh38 chr17 1057055 1057055 + Nonsense_Mutation SNP C C A novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1465G>T p.Gly489Ter p.G489* ENST00000574437 12/22 NA NA NA NA NA NA ABR,stop_gained,p.Gly431Ter,ENST00000544583,NM_001159746.3,NM_001322840.2;ABR,stop_gained,p.Gly477Ter,ENST00000302538,NM_021962.5;ABR,stop_gained,p.Gly489Ter,ENST00000574437,NM_001322841.2;ABR,stop_gained,p.Gly440Ter,ENST00000291107,NM_001092.5;ABR,stop_gained,p.Gly259Ter,ENST00000536794,NM_001282149.2;ABR,stop_gained,p.Gly144Ter,ENST00000574544,;ABR,intron_variant,,ENST00000576964,;ABR,3_prime_UTR_variant,,ENST00000575770,;ABR,non_coding_transcript_exon_variant,,ENST00000573895,;,regulatory_region_variant,,ENSR00000546774,; A ENSG00000159842 ENST00000574437 Transcript stop_gained 1756/3196 1465/2616 489/871 G/* Gga/Tga 1 NA -1 ABR HGNC HGNC:81 protein_coding YES ENSP00000461565 A0A1C7CYZ0.27 UPI0003E7528E NM_001322841.2 12/22 PANTHER:PTHR23182,PANTHER:PTHR23182:SF5 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 SNV 5 NA NA NA . CCT . 3044.6 NA NA NA NA NA NA NA NA NA 1057055 PRPF8 10594 . GRCh38 chr17 1681873 1681873 + Silent SNP G G A rs755686325 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.600C>T p.Asp200= p.D200= ENST00000572621 4/42 NA NA NA NA NA NA PRPF8,synonymous_variant,p.Asp200=,ENST00000572621,;PRPF8,synonymous_variant,p.Asp200=,ENST00000304992,NM_006445.4;PRPF8,synonymous_variant,p.Asp145=,ENST00000577001,;AC130343.3,upstream_gene_variant,,ENST00000615078,;PRPF8,downstream_gene_variant,,ENST00000571346,;PRPF8,upstream_gene_variant,,ENST00000573716,;PRPF8,upstream_gene_variant,,ENST00000574728,;PRPF8,upstream_gene_variant,,ENST00000576407,; A ENSG00000174231 ENST00000572621 Transcript synonymous_variant 866/7445 600/7008 200/2335 D gaC/gaT rs755686325,COSV100517975 1 NA -1 PRPF8 HGNC HGNC:17340 protein_coding YES CCDS11010.1 ENSP00000460348 Q6P2Q9.178 UPI000006F2DD 4/42 PDB-ENSP_mappings:3jcr.A,PDB-ENSP_mappings:5mqf.A,PDB-ENSP_mappings:5o9z.A,PDB-ENSP_mappings:5xjc.A,PDB-ENSP_mappings:5yzg.A,PDB-ENSP_mappings:5z56.A,PDB-ENSP_mappings:5z57.A,PDB-ENSP_mappings:5z58.A,PDB-ENSP_mappings:6ah0.A,PDB-ENSP_mappings:6ahd.A,PDB-ENSP_mappings:6ff4.A,PDB-ENSP_mappings:6ff7.A,PDB-ENSP_mappings:6icz.A,PDB-ENSP_mappings:6id0.A,PDB-ENSP_mappings:6id1.A,PDB-ENSP_mappings:6qdv.A,PDB-ENSP_mappings:6qw6.5A,PDB-ENSP_mappings:6qx9.5A,Pfam:PF08082,PANTHER:PTHR11140,PANTHER:PTHR11140:SF1 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA LOW 1 SNV 5 NA 0,1 NA 1 . CGT . 4330.6 1.988e-05 NA NA NA 0.0001087 NA 8.79e-06 NA 6.533e-05 1681873 WDR81 124997 . GRCh38 chr17 1728113 1728113 + Missense_Mutation SNP A A G rs377204514 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3154A>G p.Met1052Val p.M1052V ENST00000409644 1/10 NA NA NA NA NA NA WDR81,start_lost,p.Met1?,ENST00000309182,NM_152348.4;WDR81,missense_variant,p.Met1052Val,ENST00000409644,NM_001163809.2;WDR81,intron_variant,,ENST00000418841,;WDR81,intron_variant,,ENST00000419248,NM_001163811.2;WDR81,intron_variant,,ENST00000437219,NM_001163673.1;WDR81,intron_variant,,ENST00000446363,;WDR81,intron_variant,,ENST00000455636,;WDR81,intron_variant,,ENST00000468539,;WDR81,upstream_gene_variant,,ENST00000575206,;AC130343.1,intron_variant,,ENST00000576540,;WDR81,non_coding_transcript_exon_variant,,ENST00000464528,;WDR81,intron_variant,,ENST00000492901,;WDR81,upstream_gene_variant,,ENST00000474958,;WDR81,upstream_gene_variant,,ENST00000479966,;WDR81,upstream_gene_variant,,ENST00000495411,; G ENSG00000167716 ENST00000409644 Transcript missense_variant 3410/6982 3154/5826 1052/1941 M/V Atg/Gtg rs377204514 1 NA 1 WDR81 HGNC HGNC:26600 protein_coding YES CCDS54062.1 ENSP00000386609 Q562E7.134 UPI0001881A85 NM_001163809.2 tolerated(0.39) benign(0.312) 1/10 PANTHER:PTHR44662 NA NA NA NA NA NA NA NA 0.0003497 uncertain_significance NA NA NA NA MODERATE 1 SNV 1 NA 1 NA 1 . CAT . 3085.6 5.536e-05 NA 3.03e-05 NA NA NA 0.0001148 NA NA 1728113 TSR1 55720 . GRCh38 chr17 2335689 2335689 + Silent SNP A A G novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.243T>C p.Pro81= p.P81= ENST00000301364 3/15 NA NA NA NA NA NA TSR1,synonymous_variant,p.Pro81=,ENST00000301364,NM_018128.5;TSR1,synonymous_variant,p.Pro81=,ENST00000576112,;SGSM2,upstream_gene_variant,,ENST00000268989,NM_014853.3;SGSM2,upstream_gene_variant,,ENST00000426855,NM_001098509.2;SGSM2,upstream_gene_variant,,ENST00000574563,NM_001346700.2;TSR1,missense_variant,p.Ser47Pro,ENST00000571806,;TSR1,non_coding_transcript_exon_variant,,ENST00000576202,;SGSM2,upstream_gene_variant,,ENST00000572875,;SGSM2,upstream_gene_variant,,ENST00000573062,;TSR1,upstream_gene_variant,,ENST00000575049,;,regulatory_region_variant,,ENSR00000090224,; G ENSG00000167721 ENST00000301364 Transcript synonymous_variant 273/4245 243/2415 81/804 P ccT/ccC 1 NA -1 TSR1 HGNC HGNC:25542 protein_coding YES CCDS32525.1 ENSP00000301364 Q2NL82.134 UPI00002005DF NM_018128.5 3/15 PDB-ENSP_mappings:6g18.u,PDB-ENSP_mappings:6g4s.u,PDB-ENSP_mappings:6g4w.u,PDB-ENSP_mappings:6g51.u,PDB-ENSP_mappings:6g53.u,PROSITE_profiles:PS51714,PANTHER:PTHR12858,PANTHER:PTHR12858:SF1 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . GAG . 2375.6 NA NA NA NA NA NA NA NA NA 2335689 SGSM2 9905 . GRCh38 chr17 2363562 2363562 + Missense_Mutation SNP G G A rs779766103 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.770G>A p.Arg257Gln p.R257Q ENST00000268989 7/24 NA NA NA NA NA NA SGSM2,missense_variant,p.Arg257Gln,ENST00000268989,NM_014853.3;SGSM2,missense_variant,p.Arg257Gln,ENST00000426855,NM_001098509.2;SGSM2,missense_variant,p.Arg257Gln,ENST00000574563,NM_001346700.2;SGSM2,5_prime_UTR_variant,,ENST00000570431,;SGSM2,downstream_gene_variant,,ENST00000574650,;AC006435.3,downstream_gene_variant,,ENST00000611041,;SGSM2,missense_variant,p.Gly285Ser,ENST00000573062,;SGSM2,downstream_gene_variant,,ENST00000572875,;SGSM2,upstream_gene_variant,,ENST00000574857,;SGSM2,upstream_gene_variant,,ENST00000575367,; A ENSG00000141258 ENST00000268989 Transcript missense_variant 958/4878 770/3156 257/1051 R/Q cGg/cAg rs779766103 1 NA 1 SGSM2 HGNC HGNC:29026 protein_coding YES CCDS32526.1 ENSP00000268989 O43147.134 UPI0000160300 NM_014853.3 tolerated(0.05) benign(0.05) 7/24 Gene3D:2.30.29.230,Pfam:PF12068,PANTHER:PTHR22957,PANTHER:PTHR22957:SF194,CDD:cd15784 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CGG . 4216.6 8.025e-06 NA NA NA NA NA 1.776e-05 NA NA 2363562 OR1E2 8388 . GRCh38 chr17 3433272 3433272 + Missense_Mutation SNP C C T NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.570G>A p.Met190Ile p.M190I ENST00000248384 1/1 NA NA NA NA NA NA OR1E2,missense_variant,p.Met190Ile,ENST00000248384,NM_003554.2;,regulatory_region_variant,,ENSR00000282143,;,regulatory_region_variant,,ENSR00001005997,; T ENSG00000127780 ENST00000248384 Transcript missense_variant 570/972 570/972 190/323 M/I atG/atA COSV50265757 1 NA -1 OR1E2 HGNC HGNC:8190 protein_coding YES CCDS11026.1 ENSP00000248384 P47887.167 A0A126GW81.32 UPI0000041BBF NM_003554.2 tolerated(0.4) benign(0.003) 1/1 Gene3D:1.20.1070.10,Pfam:PF13853,Prints:PR00245,PROSITE_profiles:PS50262,PANTHER:PTHR26451,PANTHER:PTHR26451:SF894,Superfamily:SSF81321,CDD:cd15236 NA NA NA NA NA NA NA NA NA 1 NA NA NA NA MODERATE 1 SNV NA NA 1 NA NA . ACA . 5554.6 NA NA NA NA NA NA NA NA NA 3433272 TRPV1 7442 . GRCh38 chr17 3588959 3588959 + Silent SNP G G A rs752558763 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1050C>T p.Ile350= p.I350= ENST00000425167 6/16 NA NA NA NA NA NA TRPV1,synonymous_variant,p.Ile350=,ENST00000425167,;TRPV1,intron_variant,,ENST00000310522,;TRPV1,intron_variant,,ENST00000399756,NM_080706.3;TRPV1,intron_variant,,ENST00000399759,NM_080705.4;TRPV1,intron_variant,,ENST00000571088,NM_018727.5;TRPV1,intron_variant,,ENST00000572705,NM_080704.4;TRPV1,intron_variant,,ENST00000576351,;AC027796.3,intron_variant,,ENST00000572919,;TRPV1,intron_variant,,ENST00000574085,;TRPV1,intron_variant,,ENST00000650505,; A ENSG00000196689 ENST00000425167 Transcript synonymous_variant 1067/2607 1050/2553 350/850 I atC/atT rs752558763 1 NA -1 TRPV1 HGNC HGNC:12716 protein_coding YES ENSP00000409627 E7EQ78.77 UPI0001AE6671 6/16 Gene3D:1.25.40.20,PROSITE_profiles:PS50297,PANTHER:PTHR10582,PANTHER:PTHR10582:SF17,SMART:SM00248,Superfamily:SSF48403,TIGRFAM:TIGR00870 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . CGA . 1864.6 7.405e-06 NA 4.101e-05 NA NA NA NA NA NA 3588959 ZZEF1 23140 . GRCh38 chr17 4064765 4064765 + Silent SNP T T C novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4314A>G p.Lys1438= p.K1438= ENST00000381638 29/55 NA NA NA NA NA NA ZZEF1,synonymous_variant,p.Lys1438=,ENST00000381638,NM_015113.4;ZZEF1,upstream_gene_variant,,ENST00000573183,;ZZEF1,non_coding_transcript_exon_variant,,ENST00000572426,;ZZEF1,downstream_gene_variant,,ENST00000570365,;ZZEF1,upstream_gene_variant,,ENST00000571436,; C ENSG00000074755 ENST00000381638 Transcript synonymous_variant 4449/11466 4314/8886 1438/2961 K aaA/aaG 1 NA -1 ZZEF1 HGNC HGNC:29027 protein_coding YES CCDS11043.1 ENSP00000371051 O43149.154 UPI00004569F7 NM_015113.4 29/55 PANTHER:PTHR22772,PANTHER:PTHR22772:SF4 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . CTT . 1218.6 NA NA NA NA NA NA NA NA NA 4064765 MYBBP1A 10514 . GRCh38 chr17 4544852 4544852 + Missense_Mutation SNP C C T rs767653524 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2380G>A p.Ala794Thr p.A794T ENST00000381556 18/27 NA NA NA NA NA NA MYBBP1A,missense_variant,p.Ala794Thr,ENST00000254718,NM_014520.4;MYBBP1A,missense_variant,p.Ala794Thr,ENST00000381556,NM_001105538.1;MYBBP1A,missense_variant,p.Ala714Thr,ENST00000573116,;MYBBP1A,intron_variant,,ENST00000572759,;MYBBP1A,intron_variant,,ENST00000573723,;MYBBP1A,downstream_gene_variant,,ENST00000571354,;MYBBP1A,upstream_gene_variant,,ENST00000571368,;MYBBP1A,downstream_gene_variant,,ENST00000573175,;MYBBP1A,upstream_gene_variant,,ENST00000574167,;MYBBP1A,upstream_gene_variant,,ENST00000574547,;MYBBP1A,upstream_gene_variant,,ENST00000574934,;MYBBP1A,upstream_gene_variant,,ENST00000575662,; T ENSG00000132382 ENST00000381556 Transcript missense_variant 2442/4104 2380/3999 794/1332 A/T Gcc/Acc rs767653524,COSV54597415 1 NA -1 MYBBP1A HGNC HGNC:7546 protein_coding YES CCDS42238.1 ENSP00000370968 Q9BQG0.174 UPI0000551C8B NM_001105538.1 deleterious(0.01) possibly_damaging(0.559) 18/27 Pfam:PF04931,PANTHER:PTHR13213,Superfamily:SSF48371 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 5 NA 0,1 NA NA . GCG . 2148.6 5.546e-05 NA NA NA NA NA 2.844e-05 0.0001744 0.0003143 4544852 C17orf107 100130311 . GRCh38 chr17 4900265 4900265 + Missense_Mutation SNP C C T rs549786886 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.305C>T p.Ala102Val p.A102V ENST00000381365 3/3 NA NA NA NA NA NA C17orf107,missense_variant,p.Ala102Val,ENST00000381365,NM_001145536.2;C17orf107,3_prime_UTR_variant,,ENST00000521575,;CHRNE,intron_variant,,ENST00000649488,NM_000080.4;CHRNE,intron_variant,,ENST00000649830,;MINK1,downstream_gene_variant,,ENST00000347992,NM_170663.5;MINK1,downstream_gene_variant,,ENST00000355280,NM_001321236.2,NM_153827.5,NM_015716.5;MINK1,downstream_gene_variant,,ENST00000453408,NM_001024937.4;MINK1,downstream_gene_variant,,ENST00000576037,;CHRNE,downstream_gene_variant,,ENST00000575637,;CHRNE,intron_variant,,ENST00000572438,;MINK1,downstream_gene_variant,,ENST00000571207,;MINK1,downstream_gene_variant,,ENST00000572330,;MINK1,downstream_gene_variant,,ENST00000574453,;MINK1,downstream_gene_variant,,ENST00000574871,;MINK1,downstream_gene_variant,,ENST00000575511,;CHRNE,upstream_gene_variant,,ENST00000652550,;,regulatory_region_variant,,ENSR00000547876,; T ENSG00000205710 ENST00000381365 Transcript missense_variant 532/3201 305/573 102/190 A/V gCg/gTg rs549786886 1 NA 1 C17orf107 HGNC HGNC:37238 protein_coding YES CCDS45591.1 ENSP00000370770 Q6ZR85.84 UPI00001C0FE1 NM_001145536.2 tolerated_low_confidence(1) benign(0) 3/3 Pfam:PF17688,PANTHER:PTHR38506 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE NA SNV 2 NA NA NA . GCG . 3341.6 NA NA NA NA NA NA NA NA NA 4900265 CAMTA2 23125 . GRCh38 chr17 4970431 4970431 + Missense_Mutation SNP G G A rs537322364 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2983C>T p.Arg995Trp p.R995W ENST00000414043 17/23 NA NA NA NA NA NA CAMTA2,missense_variant,p.Arg971Trp,ENST00000361571,NM_001171168.2;CAMTA2,missense_variant,p.Arg995Trp,ENST00000414043,NM_001171167.2;CAMTA2,missense_variant,p.Arg972Trp,ENST00000348066,NM_015099.4;CAMTA2,missense_variant,p.Arg977Trp,ENST00000572543,;CAMTA2,missense_variant,p.Arg974Trp,ENST00000381311,NM_001171166.2;SPAG7,upstream_gene_variant,,ENST00000206020,NM_004890.3;SPAG7,upstream_gene_variant,,ENST00000573366,;SPAG7,upstream_gene_variant,,ENST00000575142,;AC004771.1,upstream_gene_variant,,ENST00000430920,;AC004771.3,downstream_gene_variant,,ENST00000576752,;MIR6865,upstream_gene_variant,,ENST00000614295,;MIR6864,upstream_gene_variant,,ENST00000617935,;SPAG7,upstream_gene_variant,,ENST00000570341,;SPAG7,upstream_gene_variant,,ENST00000571023,;CAMTA2,downstream_gene_variant,,ENST00000572326,;CAMTA2,3_prime_UTR_variant,,ENST00000574951,;CAMTA2,non_coding_transcript_exon_variant,,ENST00000576872,;CAMTA2,upstream_gene_variant,,ENST00000572192,;SPAG7,upstream_gene_variant,,ENST00000573805,;CAMTA2,upstream_gene_variant,,ENST00000574442,;CAMTA2,downstream_gene_variant,,ENST00000575192,;SPAG7,upstream_gene_variant,,ENST00000575784,; A ENSG00000108509 ENST00000414043 Transcript missense_variant 3137/4589 2983/3726 995/1241 R/W Cgg/Tgg rs537322364 1 NA -1 CAMTA2 HGNC HGNC:18807 protein_coding YES CCDS54072.1 ENSP00000412886 O94983.168 UPI0001892BAE NM_001171167.2 deleterious(0) benign(0.328) 17/23 PANTHER:PTHR23335,PANTHER:PTHR23335:SF9 2e-04 NA 0.0014 NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CGC . 3484.6 3.58e-05 NA 5.782e-05 NA NA NA NA NA 0.0002286 4970431 KIF1C 10749 . GRCh38 chr17 5014747 5014747 + Missense_Mutation SNP G G A rs747822842 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1576G>A p.Gly526Ser p.G526S ENST00000320785 18/23 NA NA NA NA NA NA KIF1C,missense_variant,p.Gly526Ser,ENST00000320785,NM_006612.6;KIF1C-AS1,downstream_gene_variant,,ENST00000438266,;KIF1C,non_coding_transcript_exon_variant,,ENST00000573815,;KIF1C,downstream_gene_variant,,ENST00000572959,; A ENSG00000129250 ENST00000320785 Transcript missense_variant 1931/7917 1576/3312 526/1103 G/S Ggc/Agc rs747822842 1 NA 1 KIF1C HGNC HGNC:6317 protein_coding YES CCDS11065.1 ENSP00000320821 O43896.184 UPI0000001C26 NM_006612.6 deleterious(0) probably_damaging(0.999) 18/23 Gene3D:2.60.200.20,PDB-ENSP_mappings:2g1l.A,Pfam:PF00498,PANTHER:PTHR24115,PANTHER:PTHR24115:SF322,Superfamily:SSF49879,CDD:cd00060 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . CGG . 5556.6 1.868e-05 NA 3.346e-05 NA NA NA 2.086e-05 NA 3.877e-05 5014747 RABEP1 9135 . GRCh38 chr17 5350624 5350624 + Missense_Mutation SNP G G T novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.958G>T p.Asp320Tyr p.D320Y ENST00000537505 7/18 NA NA NA NA NA NA RABEP1,missense_variant,p.Asp320Tyr,ENST00000537505,NM_004703.6,NM_001291581.2;RABEP1,missense_variant,p.Asp320Tyr,ENST00000341923,NM_001083585.3;RABEP1,upstream_gene_variant,,ENST00000574568,;RABEP1,non_coding_transcript_exon_variant,,ENST00000575475,; T ENSG00000029725 ENST00000537505 Transcript missense_variant 1161/5909 958/2589 320/862 D/Y Gat/Tat 1 NA 1 RABEP1 HGNC HGNC:17677 protein_coding YES CCDS45592.1 ENSP00000445408 Q15276.187 UPI00000745A5 NM_004703.6,NM_001291581.2 deleterious(0) probably_damaging(0.998) 7/18 Pfam:PF03528,PANTHER:PTHR31179,PANTHER:PTHR31179:SF5,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . AGA . 676.6 NA NA NA NA NA NA NA NA NA 5350624 NUP88 4927 . GRCh38 chr17 5387456 5387456 + Missense_Mutation SNP G G A rs147688370 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1846C>T p.Arg616Trp p.R616W ENST00000573584 14/17 NA NA NA NA NA NA NUP88,missense_variant,p.Arg616Trp,ENST00000573584,NM_001320653.1,NM_002532.6;NUP88,missense_variant,p.Arg571Trp,ENST00000225696,;RABEP1,downstream_gene_variant,,ENST00000341923,NM_001083585.3;RABEP1,downstream_gene_variant,,ENST00000537505,NM_004703.6,NM_001291581.2;NUP88,upstream_gene_variant,,ENST00000573169,;NUP88,missense_variant,p.Arg85Trp,ENST00000576708,;NUP88,non_coding_transcript_exon_variant,,ENST00000576862,;NUP88,non_coding_transcript_exon_variant,,ENST00000574087,;NUP88,downstream_gene_variant,,ENST00000570937,;NUP88,upstream_gene_variant,,ENST00000574855,;NUP88,downstream_gene_variant,,ENST00000574867,;NUP88,downstream_gene_variant,,ENST00000575976,; A ENSG00000108559 ENST00000573584 Transcript missense_variant 1858/3611 1846/2226 616/741 R/W Cgg/Tgg rs147688370 1 NA -1 NUP88 HGNC HGNC:8067 protein_coding YES CCDS11070.1 ENSP00000458954 Q99567.173 UPI0000130894 NM_001320653.1,NM_002532.6 deleterious(0.02) probably_damaging(0.977) 14/17 Coiled-coils_(Ncoils):Coil,Pfam:PF10168,PANTHER:PTHR13257 NA NA NA NA NA NA NA 0.000227 NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . CGC . 2488.6 7.964e-06 6.155e-05 NA NA NA NA 8.815e-06 NA NA 5387456 PITPNM3 83394 . GRCh38 chr17 6455529 6455529 + Missense_Mutation SNP C C T rs780611896 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2734G>A p.Ala912Thr p.A912T ENST00000262483 20/20 NA NA NA NA NA NA PITPNM3,missense_variant,p.Ala912Thr,ENST00000262483,NM_031220.4;PITPNM3,missense_variant,p.Ala876Thr,ENST00000421306,NM_001165966.2;PIMREG,downstream_gene_variant,,ENST00000250056,NM_001195228.2;PIMREG,downstream_gene_variant,,ENST00000571572,;PIMREG,downstream_gene_variant,,ENST00000572447,NM_019013.3;PIMREG,downstream_gene_variant,,ENST00000572595,;PITPNM3,non_coding_transcript_exon_variant,,ENST00000576664,;PITPNM3,non_coding_transcript_exon_variant,,ENST00000572795,; T ENSG00000091622 ENST00000262483 Transcript missense_variant 2883/7149 2734/2925 912/974 A/T Gcg/Acg rs780611896 1 NA -1 PITPNM3 HGNC HGNC:21043 protein_coding YES CCDS11076.1 ENSP00000262483 Q9BZ71.144 UPI000022A281 NM_031220.4 tolerated(0.1) benign(0.007) 20/20 PANTHER:PTHR23509,PANTHER:PTHR23509:SF22 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . GCG . 5528.6 3.332e-05 NA 0.0002035 NA NA NA NA 0.0001673 NA 6455529 AC004706.3 0 . GRCh38 chr17 6638165 6638165 + Missense_Mutation SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2152G>A p.Ala718Thr p.A718T ENST00000634965 1/3 NA NA NA NA NA NA AC004706.3,missense_variant,p.Ala718Thr,ENST00000634965,;KIAA0753,intron_variant,,ENST00000361413,NM_014804.3;KIAA0753,intron_variant,,ENST00000571642,;KIAA0753,intron_variant,,ENST00000572370,NM_001351225.2;TXNDC17,upstream_gene_variant,,ENST00000250101,NM_032731.4;TXNDC17,upstream_gene_variant,,ENST00000570330,;TXNDC17,upstream_gene_variant,,ENST00000574838,;TXNDC17,upstream_gene_variant,,ENST00000571029,;TXNDC17,upstream_gene_variant,,ENST00000571957,;TXNDC17,upstream_gene_variant,,ENST00000573792,;TXNDC17,upstream_gene_variant,,ENST00000576020,;TXNDC17,upstream_gene_variant,,ENST00000577146,;KIAA0753,intron_variant,,ENST00000570455,;KIAA0753,upstream_gene_variant,,ENST00000570790,;TXNDC17,upstream_gene_variant,,ENST00000574429,;TXNDC17,upstream_gene_variant,,ENST00000574734,; T ENSG00000282936 ENST00000634965 Transcript missense_variant 2292/4843 2152/3537 718/1178 A/T Gct/Act 1 NA -1 AC004706.3 Clone_based_ensembl_gene protein_coding YES ENSP00000499350 A0A590UJ96.2 UPI000387CBEA deleterious_low_confidence(0) unknown(0) 1/3 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE NA SNV NA NA NA NA . GCC . 3481.6 NA NA NA NA NA NA NA NA NA 6638165 AC004706.3 0 . GRCh38 chr17 6638438 6638438 + Missense_Mutation SNP C C T rs4796531 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1879G>A p.Ala627Thr p.A627T ENST00000634965 1/3 NA NA NA NA NA NA AC004706.3,missense_variant,p.Ala627Thr,ENST00000634965,;KIAA0753,intron_variant,,ENST00000361413,NM_014804.3;KIAA0753,intron_variant,,ENST00000571642,;KIAA0753,intron_variant,,ENST00000572370,NM_001351225.2;MED31,downstream_gene_variant,,ENST00000225728,NM_016060.3;TXNDC17,upstream_gene_variant,,ENST00000250101,NM_032731.4;TXNDC17,upstream_gene_variant,,ENST00000570330,;TXNDC17,upstream_gene_variant,,ENST00000574838,;TXNDC17,upstream_gene_variant,,ENST00000571029,;TXNDC17,upstream_gene_variant,,ENST00000571957,;TXNDC17,upstream_gene_variant,,ENST00000573792,;TXNDC17,upstream_gene_variant,,ENST00000576020,;TXNDC17,upstream_gene_variant,,ENST00000577146,;KIAA0753,intron_variant,,ENST00000570455,;KIAA0753,upstream_gene_variant,,ENST00000570790,;TXNDC17,upstream_gene_variant,,ENST00000574429,;TXNDC17,upstream_gene_variant,,ENST00000574734,; T ENSG00000282936 ENST00000634965 Transcript missense_variant 2019/4843 1879/3537 627/1178 A/T Gca/Aca rs4796531 1 NA -1 AC004706.3 Clone_based_ensembl_gene protein_coding YES ENSP00000499350 A0A590UJ96.2 UPI000387CBEA tolerated_low_confidence(0.79) benign(0) 1/3 NA 0.9251 0.6081 NA 0.6429 0.6541 0.6483 NA NA NA NA NA NA MODERATE NA SNV NA NA NA NA . GCG . 11923.03 NA NA NA NA NA NA NA NA NA 6638438 AC004706.3 0 . GRCh38 chr17 6639643 6639643 + Missense_Mutation SNP T T C rs35794894 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.674A>G p.Glu225Gly p.E225G ENST00000634965 1/3 NA NA NA NA NA NA AC004706.3,missense_variant,p.Glu225Gly,ENST00000634965,;KIAA0753,intron_variant,,ENST00000361413,NM_014804.3;KIAA0753,intron_variant,,ENST00000571642,;KIAA0753,intron_variant,,ENST00000572370,NM_001351225.2;MED31,downstream_gene_variant,,ENST00000225728,NM_016060.3;TXNDC17,upstream_gene_variant,,ENST00000250101,NM_032731.4;TXNDC17,upstream_gene_variant,,ENST00000570330,;MED31,downstream_gene_variant,,ENST00000574128,;TXNDC17,upstream_gene_variant,,ENST00000574838,;MED31,downstream_gene_variant,,ENST00000575197,;TXNDC17,upstream_gene_variant,,ENST00000571029,;TXNDC17,upstream_gene_variant,,ENST00000571957,;TXNDC17,upstream_gene_variant,,ENST00000573792,;TXNDC17,upstream_gene_variant,,ENST00000576020,;TXNDC17,upstream_gene_variant,,ENST00000577146,;KIAA0753,intron_variant,,ENST00000570455,;KIAA0753,upstream_gene_variant,,ENST00000570790,;TXNDC17,upstream_gene_variant,,ENST00000574429,;TXNDC17,upstream_gene_variant,,ENST00000574734,;,regulatory_region_variant,,ENSR00000090738,; C ENSG00000282936 ENST00000634965 Transcript missense_variant 814/4843 674/3537 225/1178 E/G gAa/gGa rs35794894 1 NA -1 AC004706.3 Clone_based_ensembl_gene protein_coding YES ENSP00000499350 A0A590UJ96.2 UPI000387CBEA tolerated_low_confidence(1) benign(0) 1/3 NA 0.9251 0.6081 NA 0.6468 0.6541 0.6493 NA NA NA NA NA NA MODERATE NA SNV NA NA NA NA . TTC . 7673.03 NA NA NA NA NA NA NA NA NA 6639643 SLC16A11 162515 . GRCh38 chr17 7042608 7042608 + Missense_Mutation SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.574G>A p.Gly192Ser p.G192S ENST00000308009 3/4 NA NA NA NA NA NA SLC16A11,missense_variant,p.Gly168Ser,ENST00000662352,NM_153357.3;SLC16A11,missense_variant,p.Gly168Ser,ENST00000673828,NM_001370553.1;SLC16A11,missense_variant,p.Gly192Ser,ENST00000308009,;SLC16A11,missense_variant,p.Gly168Ser,ENST00000447225,;SLC16A11,missense_variant,p.Gly168Ser,ENST00000574600,NM_001370549.1;SLC16A13,downstream_gene_variant,,ENST00000308027,NM_201566.3;SLC16A11,intron_variant,,ENST00000573338,;,regulatory_region_variant,,ENSR00001006394,;,TF_binding_site_variant,,ENSM00526031476,;,TF_binding_site_variant,,ENSM00524374699,; T ENSG00000174326 ENST00000308009 Transcript missense_variant 912/1803 574/1416 192/471 G/S Ggc/Agc 1 NA -1 SLC16A11 HGNC HGNC:23093 protein_coding YES CCDS11086.1 ENSP00000310490 Q8NCK7.124 UPI000006F985 tolerated(0.19) possibly_damaging(0.572) 3/4 Gene3D:1.20.1250.20,Pfam:PF07690,PROSITE_profiles:PS50850,PANTHER:PTHR11360,PANTHER:PTHR11360:SF80,Superfamily:SSF103473,CDD:cd17423 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CCG . 2243.6 NA NA NA NA NA NA NA NA NA 7042608 ACADVL 37 . GRCh38 chr17 7220997 7220997 + Missense_Mutation SNP T T C novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.485T>C p.Leu162Pro p.L162P ENST00000543245 7/21 NA NA NA NA NA NA ACADVL,missense_variant,p.Leu162Pro,ENST00000543245,NM_001270447.1;ACADVL,missense_variant,p.Leu117Pro,ENST00000350303,NM_001270448.1,NM_001033859.2;ACADVL,missense_variant,p.Leu139Pro,ENST00000356839,NM_000018.4;ACADVL,missense_variant,p.Leu139Pro,ENST00000583312,;ACADVL,missense_variant,p.Leu150Pro,ENST00000584103,;ACADVL,missense_variant,p.Leu85Pro,ENST00000579886,;DVL2,downstream_gene_variant,,ENST00000005340,NM_004422.3;DLG4,upstream_gene_variant,,ENST00000302955,NM_001128827.3;DLG4,upstream_gene_variant,,ENST00000399506,NM_001321075.3;DLG4,upstream_gene_variant,,ENST00000399510,NM_001321074.1;DLG4,upstream_gene_variant,,ENST00000447163,;DLG4,upstream_gene_variant,,ENST00000485100,;ACADVL,upstream_gene_variant,,ENST00000542255,;DVL2,downstream_gene_variant,,ENST00000575458,;ACADVL,upstream_gene_variant,,ENST00000579546,;DLG4,upstream_gene_variant,,ENST00000647975,;DLG4,upstream_gene_variant,,ENST00000648172,NM_001365.4;MIR324,downstream_gene_variant,,ENST00000362183,;ACADVL,non_coding_transcript_exon_variant,,ENST00000581562,;ACADVL,intron_variant,,ENST00000577857,;ACADVL,upstream_gene_variant,,ENST00000583074,;ACADVL,missense_variant,p.Leu39Pro,ENST00000581378,;ACADVL,3_prime_UTR_variant,,ENST00000322910,;ACADVL,non_coding_transcript_exon_variant,,ENST00000577191,;ACADVL,non_coding_transcript_exon_variant,,ENST00000579286,;ACADVL,non_coding_transcript_exon_variant,,ENST00000577433,;ACADVL,non_coding_transcript_exon_variant,,ENST00000582056,;ACADVL,non_coding_transcript_exon_variant,,ENST00000582166,;ACADVL,non_coding_transcript_exon_variant,,ENST00000580365,;DLG4,upstream_gene_variant,,ENST00000491753,;ACADVL,upstream_gene_variant,,ENST00000578033,;ACADVL,downstream_gene_variant,,ENST00000578269,;ACADVL,upstream_gene_variant,,ENST00000578319,;ACADVL,downstream_gene_variant,,ENST00000578421,;ACADVL,upstream_gene_variant,,ENST00000578579,;ACADVL,upstream_gene_variant,,ENST00000578711,;ACADVL,upstream_gene_variant,,ENST00000578809,;ACADVL,upstream_gene_variant,,ENST00000578824,;ACADVL,upstream_gene_variant,,ENST00000579391,;ACADVL,upstream_gene_variant,,ENST00000579425,;ACADVL,upstream_gene_variant,,ENST00000579894,;ACADVL,downstream_gene_variant,,ENST00000580263,;ACADVL,downstream_gene_variant,,ENST00000582356,;ACADVL,upstream_gene_variant,,ENST00000582379,;ACADVL,upstream_gene_variant,,ENST00000582450,;ACADVL,upstream_gene_variant,,ENST00000583760,;ACADVL,upstream_gene_variant,,ENST00000583848,;ACADVL,upstream_gene_variant,,ENST00000583850,;ACADVL,upstream_gene_variant,,ENST00000583858,;ACADVL,upstream_gene_variant,,ENST00000585203,;DLG4,upstream_gene_variant,,ENST00000648707,;,regulatory_region_variant,,ENSR00000090826,; C ENSG00000072778 ENST00000543245 Transcript missense_variant 506/2227 485/2037 162/678 L/P cTg/cCg 1 NA 1 ACADVL HGNC HGNC:92 protein_coding YES CCDS58509.1 ENSP00000438689 P49748.205 UPI0002064F84 NM_001270447.1 deleterious(0.01) probably_damaging(0.975) 7/21 Gene3D:1.10.540.10,Pfam:PF02771,PANTHER:PTHR43884,PANTHER:PTHR43884:SF11,Superfamily:SSF56645,CDD:cd01161 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE NA SNV 2 NA NA 1 . CTG . 8864.6 NA NA NA NA NA NA NA NA NA 7220997 PHF23 79142 . GRCh38 chr17 7236239 7236239 + Frame_Shift_Del DEL C C - novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.688del p.Asp230IlefsTer37 p.D230Ifs*37 ENST00000320316 4/5 NA NA NA NA NA NA PHF23,frameshift_variant,p.Asp230IlefsTer37,ENST00000320316,NM_024297.3;PHF23,frameshift_variant,p.Asp100IlefsTer37,ENST00000576955,;PHF23,frameshift_variant,p.Asp163IlefsTer37,ENST00000571362,NM_001284517.2;PHF23,frameshift_variant,p.Asp226IlefsTer37,ENST00000454255,NM_001284518.1;PHF23,frameshift_variant,p.Asp100IlefsTer37,ENST00000572789,;PHF23,intron_variant,,ENST00000613632,;DVL2,upstream_gene_variant,,ENST00000005340,NM_004422.3;GABARAP,downstream_gene_variant,,ENST00000302386,NM_007278.2;PHF23,downstream_gene_variant,,ENST00000570899,;GABARAP,downstream_gene_variant,,ENST00000571129,;GABARAP,downstream_gene_variant,,ENST00000571253,;PHF23,downstream_gene_variant,,ENST00000573826,;DVL2,upstream_gene_variant,,ENST00000574143,;PHF23,downstream_gene_variant,,ENST00000574236,;PHF23,downstream_gene_variant,,ENST00000574323,;PHF23,downstream_gene_variant,,ENST00000574407,;DVL2,upstream_gene_variant,,ENST00000575458,;DVL2,upstream_gene_variant,,ENST00000575756,;GABARAP,downstream_gene_variant,,ENST00000577035,;PHF23,downstream_gene_variant,,ENST00000570753,;PHF23,downstream_gene_variant,,ENST00000574899,;AC120057.2,downstream_gene_variant,,ENST00000570760,;GABARAP,downstream_gene_variant,,ENST00000570856,;DVL2,upstream_gene_variant,,ENST00000572285,;DVL2,upstream_gene_variant,,ENST00000576949,;,regulatory_region_variant,,ENSR00000090831,; - ENSG00000040633 ENST00000320316 Transcript frameshift_variant 866/1978 688/1212 230/403 D/X Gat/at 1 NA -1 PHF23 HGNC HGNC:28428 protein_coding YES CCDS42250.1 ENSP00000322579 Q9BUL5.148 UPI000006CD0D NM_024297.3 4/5 PANTHER:PTHR14571,PANTHER:PTHR14571:SF8,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 NA NA NA . ATCC . 1491.6 NA NA NA NA NA NA NA NA NA 7236238 SPEM1 374768 . GRCh38 chr17 7421417 7421417 + Missense_Mutation SNP A A C novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.742A>C p.Ile248Leu p.I248L ENST00000323675 3/3 NA NA NA NA NA NA SPEM1,missense_variant,p.Ile248Leu,ENST00000323675,NM_199339.3;NLGN2,downstream_gene_variant,,ENST00000302926,NM_020795.4;SPEM2,upstream_gene_variant,,ENST00000333870,NM_175734.5;SPEM2,upstream_gene_variant,,ENST00000574034,;NLGN2,downstream_gene_variant,,ENST00000575301,;AC113189.2,intron_variant,,ENST00000575310,; C ENSG00000181323 ENST00000323675 Transcript missense_variant 803/1018 742/930 248/309 I/L Atc/Ctc 1 NA 1 SPEM1 HGNC HGNC:32429 protein_coding YES CCDS42254.1 ENSP00000315554 Q8N4L4.104 UPI000006DD8B NM_199339.3 deleterious(0.01) benign(0.006) 3/3 PANTHER:PTHR34834,PANTHER:PTHR34834:SF1 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CAT . 4570.6 NA NA NA NA NA NA NA NA NA 7421417 POLR2A 5430 . GRCh38 chr17 7513775 7513776 + Frame_Shift_Del DEL CA CA - rs1490940612 NA HCI-EC-23 NORMAL CA CA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.5511_5512del p.His1837GlnfsTer76 p.H1837Qfs*76 ENST00000674977 30/30 NA NA NA NA NA NA POLR2A,frameshift_variant,p.His1837GlnfsTer76,ENST00000674977,NM_000937.5;POLR2A,non_coding_transcript_exon_variant,,ENST00000617998,;POLR2A,downstream_gene_variant,,ENST00000573603,;POLR2A,downstream_gene_variant,,ENST00000576553,; - ENSG00000181222 ENST00000674977 Transcript frameshift_variant,splice_region_variant 5908-5909/6312 5509-5510/5913 1837/1970 H/X CAc/c rs1490940612 1 NA 1 POLR2A HGNC HGNC:9187 protein_coding YES ENSP00000502190 A0A590UKB6.3 UPI00114A27A4 NM_000937.5 30/30 MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion NA 2 NA 1 . CCCAC . 8172.03 NA NA NA NA NA NA NA NA NA 7513774 TNFSF12 8742 . GRCh38 chr17 7557123 7557123 + Missense_Mutation SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.523G>A p.Val175Ile p.V175I ENST00000293825 7/7 NA NA NA NA NA NA TNFSF12,missense_variant,p.Val175Ile,ENST00000293825,NM_003809.3;TNFSF12-TNFSF13,intron_variant,,ENST00000293826,NM_172089.4;SENP3,upstream_gene_variant,,ENST00000321337,NM_015670.6;TNFSF13,upstream_gene_variant,,ENST00000338784,NM_003808.3;TNFSF13,upstream_gene_variant,,ENST00000349228,NM_172087.2;TNFSF13,upstream_gene_variant,,ENST00000380535,NM_001198622.1;TNFSF13,upstream_gene_variant,,ENST00000396542,NM_001198624.1;TNFSF13,upstream_gene_variant,,ENST00000396545,NM_172088.2;TNFSF13,upstream_gene_variant,,ENST00000436057,;TNFSF13,upstream_gene_variant,,ENST00000438470,;TNFSF13,upstream_gene_variant,,ENST00000483039,;TNFSF13,upstream_gene_variant,,ENST00000625791,NM_001198623.1;AC016876.3,downstream_gene_variant,,ENST00000610459,;TNFSF12,non_coding_transcript_exon_variant,,ENST00000462811,;TNFSF12,3_prime_UTR_variant,,ENST00000322272,;TNFSF12,non_coding_transcript_exon_variant,,ENST00000462619,;,regulatory_region_variant,,ENSR00000090876,; A ENSG00000239697 ENST00000293825 Transcript missense_variant 619/1377 523/750 175/249 V/I Gtc/Atc 1 NA 1 TNFSF12 HGNC HGNC:11927 protein_coding YES CCDS11109.1 ENSP00000293825 O43508.176 Q4ACW9.131 UPI000003F533 NM_003809.3 tolerated(0.14) benign(0.429) 7/7 Gene3D:2.60.120.40,PDB-ENSP_mappings:4ht1.T,Pfam:PF00229,PROSITE_profiles:PS50049,PANTHER:PTHR15151,PANTHER:PTHR15151:SF20,SMART:SM00207,Superfamily:SSF49842,CDD:cd00184 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . TGT . 1396.6 NA NA NA NA NA NA NA NA NA 7557123 WRAP53 55135 . GRCh38 chr17 7702755 7702755 + Missense_Mutation SNP C C A novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1177C>A p.Leu393Met p.L393M ENST00000316024 8/10 NA NA NA NA NA NA WRAP53,missense_variant,p.Leu393Met,ENST00000316024,;WRAP53,missense_variant,p.Leu393Met,ENST00000457584,NM_001143991.2;WRAP53,missense_variant,p.Leu393Met,ENST00000431639,NM_001143990.1;WRAP53,missense_variant,p.Leu393Met,ENST00000396463,NM_018081.2,NM_001143992.2;WRAP53,missense_variant,p.Leu360Met,ENST00000534050,;EFNB3,upstream_gene_variant,,ENST00000226091,NM_001406.4;WRAP53,3_prime_UTR_variant,,ENST00000498311,;WRAP53,3_prime_UTR_variant,,ENST00000463804,;WRAP53,non_coding_transcript_exon_variant,,ENST00000467699,;WRAP53,non_coding_transcript_exon_variant,,ENST00000471973,;WRAP53,upstream_gene_variant,,ENST00000498114,; A ENSG00000141499 ENST00000316024 Transcript missense_variant 3525/4011 1177/1647 393/548 L/M Ctg/Atg 1 NA 1 WRAP53 HGNC HGNC:25522 protein_coding YES CCDS11119.1 ENSP00000324203 Q9BUR4.166 UPI000007261E deleterious(0.02) probably_damaging(0.997) 8/10 Gene3D:2.130.10.10,Pfam:PF00400,PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,PANTHER:PTHR13211,SMART:SM00320,Superfamily:SSF50978 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . CCT . 4836.6 NA NA NA NA NA NA NA NA NA 7702755 DNAH2 146754 . GRCh38 chr17 7798223 7798223 + Missense_Mutation SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.8297G>A p.Ser2766Asn p.S2766N ENST00000572933 54/86 NA NA NA NA NA NA DNAH2,missense_variant,p.Ser2766Asn,ENST00000572933,NM_020877.4;DNAH2,missense_variant,p.Ser2766Asn,ENST00000389173,; A ENSG00000183914 ENST00000572933 Transcript missense_variant 9757/14955 8297/13284 2766/4427 S/N aGc/aAc 1 NA 1 DNAH2 HGNC HGNC:2948 protein_coding YES CCDS32551.1 ENSP00000458355 Q9P225.136 UPI00005B2F0D NM_020877.4 deleterious(0) probably_damaging(1) 54/86 Gene3D:3.40.50.300,Pfam:PF12780,PANTHER:PTHR10676,PANTHER:PTHR10676:SF183,Superfamily:SSF52540 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 2 NA NA NA . AGC . 3590.6 NA NA NA NA NA NA NA NA NA 7798223 KDM6B 23135 . GRCh38 chr17 7846859 7846860 + In_Frame_Ins INS - - ACCACC rs61462443 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.786_791dup p.Pro263_Pro264dup p.P263_P264dup ENST00000254846 9/22 NA NA NA NA NA NA KDM6B,inframe_insertion,p.Pro263_Pro264dup,ENST00000254846,NM_001080424.2;KDM6B,inframe_insertion,p.Pro263_Pro264dup,ENST00000448097,NM_001348716.1;KDM6B,intron_variant,,ENST00000570632,;KDM6B,downstream_gene_variant,,ENST00000571047,;KDM6B,downstream_gene_variant,,ENST00000575521,; ACCACC ENSG00000132510 ENST00000254846 Transcript inframe_insertion 1141-1142/6713 752-753/5049 251/1682 L/LPP tta/ttACCACCa rs61462443 1 NA 1 KDM6B HGNC HGNC:29012 protein_coding YES CCDS32552.1 ENSP00000254846 O15054.159 UPI00006C175B NM_001080424.2 9/22 PANTHER:PTHR14017,PANTHER:PTHR14017:SF5,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 insertion 1 39 1 NA 1 . TTA . 2945.1 NA NA NA NA NA NA NA NA NA 7846859 KDM6B 23135 . GRCh38 chr17 7847699 7847699 + Frame_Shift_Del DEL C C - novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1416del p.Cys473ValfsTer14 p.C473Vfs*14 ENST00000254846 11/22 NA NA NA NA NA NA KDM6B,frameshift_variant,p.Cys473ValfsTer14,ENST00000254846,NM_001080424.2;KDM6B,frameshift_variant,p.Cys473ValfsTer14,ENST00000448097,NM_001348716.1;KDM6B,downstream_gene_variant,,ENST00000570632,;KDM6B,downstream_gene_variant,,ENST00000571047,;KDM6B,downstream_gene_variant,,ENST00000575521,; - ENSG00000132510 ENST00000254846 Transcript frameshift_variant 1800/6713 1411/5049 471/1682 P/X Ccc/cc 1 NA 1 KDM6B HGNC HGNC:29012 protein_coding YES CCDS32552.1 ENSP00000254846 O15054.159 UPI00006C175B NM_001080424.2 11/22 PANTHER:PTHR14017,PANTHER:PTHR14017:SF5,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 5 NA 1 . CACC . 1660.6 NA NA NA NA NA NA NA NA NA 7847698 PFAS 5198 . GRCh38 chr17 8267568 8267568 + Missense_Mutation SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3285G>A p.Met1095Ile p.M1095I ENST00000314666 26/28 NA NA NA NA NA NA PFAS,missense_variant,p.Met1095Ile,ENST00000314666,NM_012393.3;PFAS,missense_variant,p.Met199Ile,ENST00000546020,;PFAS,downstream_gene_variant,,ENST00000583059,;PFAS,downstream_gene_variant,,ENST00000585319,;PFAS,3_prime_UTR_variant,,ENST00000580356,;PFAS,downstream_gene_variant,,ENST00000578979,;PFAS,downstream_gene_variant,,ENST00000580251,;PFAS,downstream_gene_variant,,ENST00000581288,; A ENSG00000178921 ENST00000314666 Transcript missense_variant 3415/5369 3285/4017 1095/1338 M/I atG/atA 1 NA 1 PFAS HGNC HGNC:8863 protein_coding YES CCDS11136.1 ENSP00000313490 O15067.190 UPI00001A95E5 NM_012393.3 deleterious(0.01) possibly_damaging(0.825) 26/28 Gene3D:3.40.50.880,HAMAP:MF_00419,Pfam:PF13507,PROSITE_profiles:PS51273,PANTHER:PTHR10099,PANTHER:PTHR10099:SF1,SMART:SM01211,Superfamily:SSF52317,TIGRFAM:TIGR01735,CDD:cd01740 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . TGC . 5281.6 NA NA NA NA NA NA NA NA NA 8267568 PIK3R6 0 . GRCh38 chr17 8823486 8823486 + Silent SNP C C A NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1527G>T p.Leu509= p.L509= ENST00000619866 14/20 NA NA NA NA NA NA PIK3R6,synonymous_variant,p.Leu509=,ENST00000619866,NM_001010855.4,NM_001290211.1;PIK3R6,3_prime_UTR_variant,,ENST00000611951,;PIK3R6,3_prime_UTR_variant,,ENST00000613555,; A ENSG00000276231 ENST00000619866 Transcript synonymous_variant 1764/3053 1527/2265 509/754 L ctG/ctT COSV61003289 1 NA -1 PIK3R6 HGNC HGNC:27101 protein_coding YES CCDS73985.1 ENSP00000480157 Q5UE93.111 UPI0000043463 NM_001010855.4,NM_001290211.1 14/20 Pfam:PF10486,PANTHER:PTHR15593,PANTHER:PTHR15593:SF1 NA NA NA NA NA NA NA NA NA 1 NA NA NA NA LOW 1 SNV 5 NA 1 NA NA . CCA . 1911.6 NA NA NA NA NA NA NA NA NA 8823486 SCO1 6341 . GRCh38 chr17 10692880 10692880 + Missense_Mutation SNP C C T rs764694798 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.446G>A p.Arg149His p.R149H ENST00000255390 3/6 NA NA NA NA NA NA SCO1,missense_variant,p.Arg149His,ENST00000255390,NM_004589.4;SCO1,missense_variant,p.Arg149His,ENST00000577427,;ADPRM,upstream_gene_variant,,ENST00000379774,NM_020233.5;SCO1,downstream_gene_variant,,ENST00000582053,;SCO1,3_prime_UTR_variant,,ENST00000577335,;ADPRM,upstream_gene_variant,,ENST00000468843,;ADPRM,upstream_gene_variant,,ENST00000527582,;SCO1,downstream_gene_variant,,ENST00000579396,; T ENSG00000133028 ENST00000255390 Transcript missense_variant 472/9577 446/906 149/301 R/H cGt/cAt rs764694798,COSV55135085 1 NA -1 SCO1 HGNC HGNC:10603 protein_coding YES CCDS11158.1 ENSP00000255390 O75880.184 UPI000013566A NM_004589.4 deleterious(0.01) possibly_damaging(0.627) 3/6 PDB-ENSP_mappings:1wp0.A,PDB-ENSP_mappings:1wp0.B,PDB-ENSP_mappings:1wp0.C,PDB-ENSP_mappings:2ggt.A,PDB-ENSP_mappings:2ggt.B,PDB-ENSP_mappings:2gqk.A,PDB-ENSP_mappings:2gql.A,PDB-ENSP_mappings:2gqm.A,PDB-ENSP_mappings:2gt5.A,PDB-ENSP_mappings:2gt6.A,PDB-ENSP_mappings:2gvp.A,PDB-ENSP_mappings:2hrf.A,PDB-ENSP_mappings:2hrn.A,Gene3D:3.40.30.10,Pfam:PF02630,PIRSF:PIRSF037736,PANTHER:PTHR12151,PANTHER:PTHR12151:SF4,Superfamily:SSF52833,CDD:cd02968 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 1 NA 0,1 NA 1 . ACG . 1791.6 1.591e-05 NA NA NA 5.437e-05 NA 8.79e-06 NA 6.533e-05 10692880 SHISA6 388336 . GRCh38 chr17 11558218 11558218 + Missense_Mutation SNP C C T rs1490636531 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1570C>T p.Arg524Cys p.R524C ENST00000441885 6/6 NA NA NA NA NA NA SHISA6,missense_variant,p.Arg524Cys,ENST00000441885,NM_207386.4;SHISA6,missense_variant,p.Arg505Cys,ENST00000432116,NM_001173462.2;SHISA6,missense_variant,p.Arg473Cys,ENST00000409168,NM_001173461.1; T ENSG00000188803 ENST00000441885 Transcript missense_variant 1780/7625 1570/1656 524/551 R/C Cgc/Tgc rs1490636531 1 NA 1 SHISA6 HGNC HGNC:34491 protein_coding YES CCDS45615.1 ENSP00000390084 Q6ZSJ9.112 UPI000183CBD8 NM_207386.4 deleterious(0) probably_damaging(0.998) 6/6 PANTHER:PTHR31774,PANTHER:PTHR31774:SF0 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . ACG . 5965.6 6.738e-06 NA NA NA 9.208e-05 NA NA NA NA 11558218 DNAH9 1770 . GRCh38 chr17 11632638 11632638 + Nonsense_Mutation SNP C C T rs774574732 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1570C>T p.Arg524Ter p.R524* ENST00000262442 8/69 NA NA NA NA NA NA DNAH9,stop_gained,p.Arg524Ter,ENST00000262442,NM_001372.4;DNAH9,stop_gained,p.Arg524Ter,ENST00000454412,;DNAH9,downstream_gene_variant,,ENST00000579406,; T ENSG00000007174 ENST00000262442 Transcript stop_gained 1599/13711 1570/13461 524/4486 R/* Cga/Tga rs774574732,COSV52350984 1 NA 1 DNAH9 HGNC HGNC:2953 protein_coding YES CCDS11160.1 ENSP00000262442 Q9NYC9.164 UPI0000141BA2 NM_001372.4 8/69 Coiled-coils_(Ncoils):Coil,Pfam:PF08385,PANTHER:PTHR10676,PANTHER:PTHR10676:SF257 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA HIGH 1 SNV 1 NA 0,1 NA 1 . CCG . 1700.6 7.962e-06 NA NA NA 5.437e-05 NA 8.811e-06 NA NA 11632638 CDRT15 146822 . GRCh38 chr17 14235966 14235966 + Missense_Mutation SNP C C T NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.457G>A p.Ala153Thr p.A153T ENST00000420162 3/3 NA NA NA NA NA NA CDRT15,missense_variant,p.Ala153Thr,ENST00000420162,NM_001007530.3;CDRT15,missense_variant,p.Ala87Thr,ENST00000431716,NM_001348781.2;COX10,downstream_gene_variant,,ENST00000664217,; T ENSG00000223510 ENST00000420162 Transcript missense_variant 486/779 457/567 153/188 A/T Gca/Aca COSV69755820 1 NA -1 CDRT15 HGNC HGNC:14395 protein_coding YES CCDS32569.1 ENSP00000402355 Q96T59.93 UPI00000702CA NM_001007530.3 tolerated_low_confidence(0.22) possibly_damaging(0.682) 3/3 PANTHER:PTHR16471,PANTHER:PTHR16471:SF3 NA NA NA NA NA NA NA NA NA 1 NA NA NA NA MODERATE 1 SNV 1 NA 1 NA NA . GCT . 1213.6 NA NA NA NA NA NA NA NA NA 14235966 CDRT1 374286 . GRCh38 chr17 15589206 15589206 + Missense_Mutation SNP G G T novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2028C>A p.Ser676Arg p.S676R ENST00000395906 12/12 NA NA NA NA NA NA CDRT1,missense_variant,p.Ser676Arg,ENST00000395906,NM_006382.4;CDRT1,missense_variant,p.Ser176Arg,ENST00000354433,;CDRT1,missense_variant,p.His76Asn,ENST00000583965,;CDRT1,intron_variant,,ENST00000395667,NM_001282540.1;AC005324.2,intron_variant,,ENST00000455584,;CDRT1,3_prime_UTR_variant,,ENST00000571263,;AC005838.1,downstream_gene_variant,,ENST00000430712,;,TF_binding_site_variant,,ENSM00206797137,;,TF_binding_site_variant,,ENSM00206731987,; T ENSG00000241322 ENST00000395906 Transcript missense_variant 2220/7540 2028/2259 676/752 S/R agC/agA 1 NA -1 CDRT1 HGNC HGNC:14379 protein_coding YES CCDS45619.1 ENSP00000379242 O95170.135 UPI00015D57D8 NM_006382.4 deleterious(0.01) benign(0.015) 12/12 Gene3D:2.130.10.10 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . TGC . 2327.6 NA NA NA NA NA NA NA NA NA 15589206 RAI1 10743 . GRCh38 chr17 17793779 17793780 + In_Frame_Ins INS - - CAGCAG rs371983878 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.867_872dup p.Gln290_Gln291dup p.Q290_Q291dup ENST00000353383 3/6 NA NA NA NA NA NA RAI1,inframe_insertion,p.Gln290_Gln291dup,ENST00000353383,NM_030665.4;RAI1,inframe_insertion,p.Gln268_Gln269dup,ENST00000640861,;RAI1,inframe_insertion,p.Gln290_Gln291dup,ENST00000395774,;RAI1,downstream_gene_variant,,ENST00000471135,;RAI1,upstream_gene_variant,,ENST00000583166,; CAGCAG ENSG00000108557 ENST00000353383 Transcript inframe_insertion 1315-1316/7677 831-832/5721 277-278/1906 -/QQ -/CAGCAG rs371983878 1 NA 1 RAI1 HGNC HGNC:9834 protein_coding YES CCDS11188.1 ENSP00000323074 Q7Z5J4.144 UPI0000200AAF NM_030665.4 3/6 Coiled-coils_(Ncoils):Coil,PANTHER:PTHR14955,PANTHER:PTHR14955:SF6,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA 25741868 NA NA NA NA MODERATE 1 insertion 1 41 1 NA 1 . ACC . 6806.64 NA NA NA NA NA NA NA NA NA 17793779 EPN2 22905 . GRCh38 chr17 19329636 19329637 + Frame_Shift_Ins INS - - A rs756461692 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1408dup p.Thr470AsnfsTer19 p.T470Nfs*19 ENST00000314728 9/11 NA NA NA NA NA NA EPN2,frameshift_variant,p.Thr470AsnfsTer19,ENST00000314728,NM_014964.4;EPN2,frameshift_variant,p.Thr413AsnfsTer19,ENST00000347697,NM_148921.3;EPN2,frameshift_variant,p.Thr413AsnfsTer19,ENST00000395620,;EPN2,frameshift_variant,p.Thr470AsnfsTer23,ENST00000395626,;EPN2,frameshift_variant,p.Thr185AsnfsTer19,ENST00000395618,NM_001102664.1;EPN2,frameshift_variant,p.Thr406AsnfsTer19,ENST00000571254,;EPN2,frameshift_variant,p.Thr178AsnfsTer19,ENST00000575595,;EPN2,frameshift_variant,p.Thr179AsnfsTer19,ENST00000494192,;EPN2,downstream_gene_variant,,ENST00000395628,;EPN2,non_coding_transcript_exon_variant,,ENST00000572627,;EPN2,non_coding_transcript_exon_variant,,ENST00000585097,;B9D1,downstream_gene_variant,,ENST00000581122,;EPN2,downstream_gene_variant,,ENST00000580579,;EPN2,downstream_gene_variant,,ENST00000584954,; A ENSG00000072134 ENST00000314728 Transcript frameshift_variant 1884-1885/4871 1400-1401/1926 467/641 S/SX tca/tcAa rs756461692 1 NA 1 EPN2 HGNC HGNC:18639 protein_coding YES CCDS11203.1 ENSP00000320543 O95208.172 UPI000013D197 NM_014964.4 9/11 PANTHER:PTHR12276,PANTHER:PTHR12276:SF50 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 insertion 1 8 NA NA . TCA . 2520.64 2.933e-05 NA 9.516e-05 NA NA NA 2.735e-05 NA 3.536e-05 19329636 MAPK7 5598 . GRCh38 chr17 19378949 19378949 + Frame_Shift_Del DEL C C - novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.54del p.Val21Ter p.V21* ENST00000308406 2/7 NA NA NA NA NA NA MAPK7,frameshift_variant,p.Val21Ter,ENST00000308406,NM_139033.2;MAPK7,frameshift_variant,p.Val21Ter,ENST00000395602,;MAPK7,frameshift_variant,p.Val21Ter,ENST00000395604,NM_002749.4,NM_139034.3;MAPK7,frameshift_variant,p.Val21Ter,ENST00000443215,;MAPK7,frameshift_variant,p.Val21Ter,ENST00000579284,;MAPK7,frameshift_variant,p.Val21Ter,ENST00000603493,;MAPK7,intron_variant,,ENST00000299612,NM_139032.3;MAPK7,intron_variant,,ENST00000482850,;MFAP4,downstream_gene_variant,,ENST00000299610,NM_002404.3;MFAP4,downstream_gene_variant,,ENST00000395592,NM_001198695.2;B9D1,upstream_gene_variant,,ENST00000477478,;MFAP4,downstream_gene_variant,,ENST00000497081,;B9D1,upstream_gene_variant,,ENST00000582857,NM_001368769.2;B9D1,upstream_gene_variant,,ENST00000642870,;B9D1,upstream_gene_variant,,ENST00000674596,;MAPK7,non_coding_transcript_exon_variant,,ENST00000572968,;MAPK7,intron_variant,,ENST00000571657,;MAPK7,intron_variant,,ENST00000573417,;B9D1,upstream_gene_variant,,ENST00000468679,;B9D1,upstream_gene_variant,,ENST00000487415,;MFAP4,downstream_gene_variant,,ENST00000574313,;B9D1,upstream_gene_variant,,ENST00000645021,;MAPK7,frameshift_variant,p.Val21Ter,ENST00000581260,;MAPK7,non_coding_transcript_exon_variant,,ENST00000570306,;MAPK7,non_coding_transcript_exon_variant,,ENST00000490660,;MAPK7,non_coding_transcript_exon_variant,,ENST00000573466,;MAPK7,non_coding_transcript_exon_variant,,ENST00000486905,;MAPK7,non_coding_transcript_exon_variant,,ENST00000572853,;B9D1,upstream_gene_variant,,ENST00000476298,;MAPK7,upstream_gene_variant,,ENST00000572716,;,regulatory_region_variant,,ENSR00000092225,; - ENSG00000166484 ENST00000308406 Transcript frameshift_variant 435/3149 49/2451 17/816 P/X Ccc/cc 1 NA 1 MAPK7 HGNC HGNC:6880 protein_coding YES CCDS11206.1 ENSP00000311005 Q13164.196 A0A024QZ20.56 UPI000006FED0 NM_139033.2 2/7 PDB-ENSP_mappings:4b99.A,PDB-ENSP_mappings:4ic7.A,PDB-ENSP_mappings:4ic7.D,PDB-ENSP_mappings:4ic8.A,PDB-ENSP_mappings:4ic8.B,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 5 NA NA . AGCC . 3994.6 NA NA NA NA NA NA NA NA NA 19378948 KCNJ18 100134444 . GRCh38 chr17 21702830 21702830 + Missense_Mutation SNP T T C rs1357044530 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.44T>C p.Leu15Ser p.L15S ENST00000567955 3/3 NA NA NA NA NA NA KCNJ18,missense_variant,p.Leu15Ser,ENST00000567955,NM_001194958.2; C ENSG00000260458 ENST00000567955 Transcript missense_variant 414/2196 44/1302 15/433 L/S tTg/tCg rs1357044530 1 NA 1 KCNJ18 HGNC HGNC:39080 protein_coding YES CCDS74015.1 ENSP00000457807 B7U540.88 UPI0002064ECF NM_001194958.2 tolerated_low_confidence(1) benign(0) 3/3 Pfam:PF08466,PANTHER:PTHR11767,PANTHER:PTHR11767:SF14 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . TTG . 1639.6 NA NA NA NA NA NA NA NA NA 21702830 KCNJ18 100134444 . GRCh38 chr17 21702902 21702902 + Missense_Mutation SNP G G A rs1371547709 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.116G>A p.Arg39Gln p.R39Q ENST00000567955 3/3 NA NA NA NA NA NA KCNJ18,missense_variant,p.Arg39Gln,ENST00000567955,NM_001194958.2; A ENSG00000260458 ENST00000567955 Transcript missense_variant 486/2196 116/1302 39/433 R/Q cGg/cAg rs1371547709 1 NA 1 KCNJ18 HGNC HGNC:39080 protein_coding YES CCDS74015.1 ENSP00000457807 B7U540.88 UPI0002064ECF NM_001194958.2 tolerated(0.13) possibly_damaging(0.892) 3/3 Pfam:PF08466,PANTHER:PTHR11767,PANTHER:PTHR11767:SF14 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . CGG . 9634.03 NA NA NA NA NA NA NA NA NA 21702902 KCNJ18 100134444 . GRCh38 chr17 21702905 21702905 + Missense_Mutation SNP G G A rs1267282483 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.119G>A p.Arg40His p.R40H ENST00000567955 3/3 NA NA NA NA NA NA KCNJ18,missense_variant,p.Arg40His,ENST00000567955,NM_001194958.2; A ENSG00000260458 ENST00000567955 Transcript missense_variant 489/2196 119/1302 40/433 R/H cGc/cAc rs1267282483 1 NA 1 KCNJ18 HGNC HGNC:39080 protein_coding YES CCDS74015.1 ENSP00000457807 B7U540.88 UPI0002064ECF NM_001194958.2 tolerated(0.11) benign(0.112) 3/3 Pfam:PF08466,PANTHER:PTHR11767,PANTHER:PTHR11767:SF14 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . CGC . 9622.03 NA NA NA NA NA NA NA NA NA 21702905 KCNJ18 100134444 . GRCh38 chr17 21702953 21702953 + Missense_Mutation SNP C C A rs1435508633 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.167C>A p.Ala56Glu p.A56E ENST00000567955 3/3 NA NA NA NA NA NA KCNJ18,missense_variant,p.Ala56Glu,ENST00000567955,NM_001194958.2; A ENSG00000260458 ENST00000567955 Transcript missense_variant 537/2196 167/1302 56/433 A/E gCg/gAg rs1435508633 1 NA 1 KCNJ18 HGNC HGNC:39080 protein_coding YES CCDS74015.1 ENSP00000457807 B7U540.88 UPI0002064ECF NM_001194958.2 tolerated(1) benign(0) 3/3 Gene3D:1.10.287.70,Gene3D:2.60.40.1400,Pfam:PF01007,Prints:PR01325,PANTHER:PTHR11767,PANTHER:PTHR11767:SF14 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . GCG . 11310.03 NA NA NA NA NA NA NA NA NA 21702953 KCNJ18 100134444 . GRCh38 chr17 21703029 21703029 + Silent SNP C C G rs1441550564 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.243C>G p.Arg81= p.R81= ENST00000567955 3/3 NA NA NA NA NA NA KCNJ18,synonymous_variant,p.Arg81=,ENST00000567955,NM_001194958.2; G ENSG00000260458 ENST00000567955 Transcript synonymous_variant 613/2196 243/1302 81/433 R cgC/cgG rs1441550564 1 NA 1 KCNJ18 HGNC HGNC:39080 protein_coding YES CCDS74015.1 ENSP00000457807 B7U540.88 UPI0002064ECF NM_001194958.2 3/3 Gene3D:1.10.287.70,Gene3D:2.60.40.1400,Pfam:PF01007,Prints:PR01320,PANTHER:PTHR11767,PANTHER:PTHR11767:SF14,Superfamily:SSF81324 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . GCT . 144.6 NA NA NA NA NA NA NA NA NA 21703029 KCNJ18 100134444 . GRCh38 chr17 21703050 21703050 + Silent SNP G G A rs1281394529 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.264G>A p.Ser88= p.S88= ENST00000567955 3/3 NA NA NA NA NA NA KCNJ18,synonymous_variant,p.Ser88=,ENST00000567955,NM_001194958.2; A ENSG00000260458 ENST00000567955 Transcript synonymous_variant 634/2196 264/1302 88/433 S tcG/tcA rs1281394529 1 NA 1 KCNJ18 HGNC HGNC:39080 protein_coding YES CCDS74015.1 ENSP00000457807 B7U540.88 UPI0002064ECF NM_001194958.2 3/3 Gene3D:1.10.287.70,Gene3D:2.60.40.1400,Pfam:PF01007,Prints:PR01320,PANTHER:PTHR11767,PANTHER:PTHR11767:SF14,Superfamily:SSF81324,Transmembrane_helices:TMhelix,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . CGC . 964.6 NA NA NA NA NA NA NA NA NA 21703050 KCNJ18 100134444 . GRCh38 chr17 21703080 21703080 + Silent SNP C C T rs1158713990 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.294C>T p.Phe98= p.F98= ENST00000567955 3/3 NA NA NA NA NA NA KCNJ18,synonymous_variant,p.Phe98=,ENST00000567955,NM_001194958.2; T ENSG00000260458 ENST00000567955 Transcript synonymous_variant 664/2196 294/1302 98/433 F ttC/ttT rs1158713990 1 NA 1 KCNJ18 HGNC HGNC:39080 protein_coding YES CCDS74015.1 ENSP00000457807 B7U540.88 UPI0002064ECF NM_001194958.2 3/3 Gene3D:1.10.287.70,Gene3D:2.60.40.1400,Pfam:PF01007,Prints:PR01320,PANTHER:PTHR11767,PANTHER:PTHR11767:SF14,Superfamily:SSF81324,Transmembrane_helices:TMhelix,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . TCG . 2691.6 NA NA NA NA NA NA NA NA NA 21703080 KCNJ18 100134444 . GRCh38 chr17 21703083 21703083 + Silent SNP C C T rs1485892449 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.297C>T p.Gly99= p.G99= ENST00000567955 3/3 NA NA NA NA NA NA KCNJ18,synonymous_variant,p.Gly99=,ENST00000567955,NM_001194958.2; T ENSG00000260458 ENST00000567955 Transcript synonymous_variant 667/2196 297/1302 99/433 G ggC/ggT rs1485892449 1 NA 1 KCNJ18 HGNC HGNC:39080 protein_coding YES CCDS74015.1 ENSP00000457807 B7U540.88 UPI0002064ECF NM_001194958.2 3/3 Gene3D:1.10.287.70,Gene3D:2.60.40.1400,Pfam:PF01007,Prints:PR01320,PANTHER:PTHR11767,PANTHER:PTHR11767:SF14,Superfamily:SSF81324,Transmembrane_helices:TMhelix NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . GCG . 2721.6 NA NA NA NA NA NA NA NA NA 21703083 KCNJ18 100134444 . GRCh38 chr17 21703101 21703101 + Silent SNP C C T rs1284863489 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.315C>T p.Ile105= p.I105= ENST00000567955 3/3 NA NA NA NA NA NA KCNJ18,synonymous_variant,p.Ile105=,ENST00000567955,NM_001194958.2; T ENSG00000260458 ENST00000567955 Transcript synonymous_variant 685/2196 315/1302 105/433 I atC/atT rs1284863489 1 NA 1 KCNJ18 HGNC HGNC:39080 protein_coding YES CCDS74015.1 ENSP00000457807 B7U540.88 UPI0002064ECF NM_001194958.2 3/3 Gene3D:1.10.287.70,Gene3D:2.60.40.1400,Pfam:PF01007,Prints:PR01320,PANTHER:PTHR11767,PANTHER:PTHR11767:SF14,Superfamily:SSF81324,Transmembrane_helices:TMhelix NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . TCG . 2941.6 NA NA NA NA NA NA NA NA NA 21703101 KCNJ18 100134444 . GRCh38 chr17 21703113 21703113 + Silent SNP C C T rs1460482360 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.327C>T p.His109= p.H109= ENST00000567955 3/3 NA NA NA NA NA NA KCNJ18,synonymous_variant,p.His109=,ENST00000567955,NM_001194958.2; T ENSG00000260458 ENST00000567955 Transcript synonymous_variant 697/2196 327/1302 109/433 H caC/caT rs1460482360 1 NA 1 KCNJ18 HGNC HGNC:39080 protein_coding YES CCDS74015.1 ENSP00000457807 B7U540.88 UPI0002064ECF NM_001194958.2 3/3 Gene3D:1.10.287.70,Gene3D:2.60.40.1400,Pfam:PF01007,PANTHER:PTHR11767,PANTHER:PTHR11767:SF14,Superfamily:SSF81324 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . ACG . 2767.6 NA NA NA NA NA NA NA NA NA 21703113 KCNJ18 100134444 . GRCh38 chr17 21703139 21703139 + Missense_Mutation SNP A A G rs1212948047 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.353A>G p.His118Arg p.H118R ENST00000567955 3/3 NA NA NA NA NA NA KCNJ18,missense_variant,p.His118Arg,ENST00000567955,NM_001194958.2; G ENSG00000260458 ENST00000567955 Transcript missense_variant 723/2196 353/1302 118/433 H/R cAc/cGc rs1212948047 1 NA 1 KCNJ18 HGNC HGNC:39080 protein_coding YES CCDS74015.1 ENSP00000457807 B7U540.88 UPI0002064ECF NM_001194958.2 tolerated(0.5) benign(0) 3/3 Gene3D:1.10.287.70,Gene3D:2.60.40.1400,Pfam:PF01007,Prints:PR01325,PANTHER:PTHR11767,PANTHER:PTHR11767:SF14,Superfamily:SSF81324 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . CAC . 747.6 NA NA NA NA NA NA NA NA NA 21703139 KCNJ18 100134444 . GRCh38 chr17 21703303 21703303 + Missense_Mutation SNP G G A rs1377011856 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.517G>A p.Asp173Asn p.D173N ENST00000567955 3/3 NA NA NA NA NA NA KCNJ18,missense_variant,p.Asp173Asn,ENST00000567955,NM_001194958.2; A ENSG00000260458 ENST00000567955 Transcript missense_variant 887/2196 517/1302 173/433 D/N Gac/Aac rs1377011856 1 NA 1 KCNJ18 HGNC HGNC:39080 protein_coding YES CCDS74015.1 ENSP00000457807 B7U540.88 UPI0002064ECF NM_001194958.2 tolerated(0.32) benign(0.006) 3/3 Gene3D:1.10.287.70,Gene3D:2.60.40.1400,Pfam:PF01007,PANTHER:PTHR11767,PANTHER:PTHR11767:SF14,Superfamily:SSF81296,Superfamily:SSF81324,Transmembrane_helices:TMhelix NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . CGA . 559.6 NA NA NA NA NA NA NA NA NA 21703303 KCNJ18 100134444 . GRCh38 chr17 21703340 21703340 + Missense_Mutation SNP C C T rs1412989405 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.554C>T p.Ala185Val p.A185V ENST00000567955 3/3 NA NA NA NA NA NA KCNJ18,missense_variant,p.Ala185Val,ENST00000567955,NM_001194958.2; T ENSG00000260458 ENST00000567955 Transcript missense_variant 924/2196 554/1302 185/433 A/V gCa/gTa rs1412989405 1 NA 1 KCNJ18 HGNC HGNC:39080 protein_coding YES CCDS74015.1 ENSP00000457807 B7U540.88 UPI0002064ECF NM_001194958.2 tolerated(0.07) benign(0.006) 3/3 Gene3D:1.10.287.70,Gene3D:2.60.40.1400,Pfam:PF01007,PANTHER:PTHR11767,PANTHER:PTHR11767:SF14,Superfamily:SSF81296,Superfamily:SSF81324 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . GCA . 2563.6 NA NA NA NA NA NA NA NA NA 21703340 KCNJ18 100134444 . GRCh38 chr17 21703362 21703362 + Missense_Mutation SNP G G C rs1292324632 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.576G>C p.Gln192His p.Q192H ENST00000567955 3/3 NA NA NA NA NA NA KCNJ18,missense_variant,p.Gln192His,ENST00000567955,NM_001194958.2; C ENSG00000260458 ENST00000567955 Transcript missense_variant 946/2196 576/1302 192/433 Q/H caG/caC rs1292324632 1 NA 1 KCNJ18 HGNC HGNC:39080 protein_coding YES CCDS74015.1 ENSP00000457807 B7U540.88 UPI0002064ECF NM_001194958.2 deleterious(0.03) possibly_damaging(0.761) 3/3 Gene3D:2.60.40.1400,PANTHER:PTHR11767,PANTHER:PTHR11767:SF14,Superfamily:SSF81296 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . AGA . 20584.6 NA NA NA NA NA NA NA NA NA 21703362 KCNJ18 100134444 . GRCh38 chr17 21703383 21703383 + Silent SNP C C T rs1389419402 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.597C>T p.Asn199= p.N199= ENST00000567955 3/3 NA NA NA NA NA NA KCNJ18,synonymous_variant,p.Asn199=,ENST00000567955,NM_001194958.2; T ENSG00000260458 ENST00000567955 Transcript synonymous_variant 967/2196 597/1302 199/433 N aaC/aaT rs1389419402 1 NA 1 KCNJ18 HGNC HGNC:39080 protein_coding YES CCDS74015.1 ENSP00000457807 B7U540.88 UPI0002064ECF NM_001194958.2 3/3 Gene3D:2.60.40.1400,Pfam:PF17655,PANTHER:PTHR11767,PANTHER:PTHR11767:SF14,Superfamily:SSF81296 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . ACG . 8253.6 NA NA NA NA NA NA NA NA NA 21703383 KCNJ18 100134444 . GRCh38 chr17 21703404 21703404 + Silent SNP C C T rs1265598600 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.618C>T p.Asp206= p.D206= ENST00000567955 3/3 NA NA NA NA NA NA KCNJ18,synonymous_variant,p.Asp206=,ENST00000567955,NM_001194958.2; T ENSG00000260458 ENST00000567955 Transcript synonymous_variant 988/2196 618/1302 206/433 D gaC/gaT rs1265598600 1 NA 1 KCNJ18 HGNC HGNC:39080 protein_coding YES CCDS74015.1 ENSP00000457807 B7U540.88 UPI0002064ECF NM_001194958.2 3/3 Gene3D:2.60.40.1400,Pfam:PF17655,PANTHER:PTHR11767,PANTHER:PTHR11767:SF14,Superfamily:SSF81296 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . ACG . 10397.6 NA NA NA NA NA NA NA NA NA 21703404 KCNJ18 100134444 . GRCh38 chr17 21703417 21703417 + Missense_Mutation SNP C C T rs1435776313 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.631C>T p.Leu211Phe p.L211F ENST00000567955 3/3 NA NA NA NA NA NA KCNJ18,missense_variant,p.Leu211Phe,ENST00000567955,NM_001194958.2; T ENSG00000260458 ENST00000567955 Transcript missense_variant 1001/2196 631/1302 211/433 L/F Ctc/Ttc rs1435776313 1 NA 1 KCNJ18 HGNC HGNC:39080 protein_coding YES CCDS74015.1 ENSP00000457807 B7U540.88 UPI0002064ECF NM_001194958.2 tolerated(0.1) benign(0.053) 3/3 Gene3D:2.60.40.1400,Pfam:PF17655,PANTHER:PTHR11767,PANTHER:PTHR11767:SF14,Superfamily:SSF81296 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . CCT . 10560.6 NA NA NA NA NA NA NA NA NA 21703417 KCNJ18 100134444 . GRCh38 chr17 21703443 21703443 + Silent SNP C C T rs1194837075 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.657C>T p.Arg219= p.R219= ENST00000567955 3/3 NA NA NA NA NA NA KCNJ18,synonymous_variant,p.Arg219=,ENST00000567955,NM_001194958.2; T ENSG00000260458 ENST00000567955 Transcript synonymous_variant 1027/2196 657/1302 219/433 R cgC/cgT rs1194837075 1 NA 1 KCNJ18 HGNC HGNC:39080 protein_coding YES CCDS74015.1 ENSP00000457807 B7U540.88 UPI0002064ECF NM_001194958.2 3/3 Gene3D:2.60.40.1400,Pfam:PF17655,PANTHER:PTHR11767,PANTHER:PTHR11767:SF14,Superfamily:SSF81296 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . GCA . 5419.6 NA NA NA NA NA NA NA NA NA 21703443 KCNJ18 100134444 . GRCh38 chr17 21703501 21703501 + Missense_Mutation SNP G G A rs1310028733 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.715G>A p.Glu239Lys p.E239K ENST00000567955 3/3 NA NA NA NA NA NA KCNJ18,missense_variant,p.Glu239Lys,ENST00000567955,NM_001194958.2; A ENSG00000260458 ENST00000567955 Transcript missense_variant 1085/2196 715/1302 239/433 E/K Gag/Aag rs1310028733 1 NA 1 KCNJ18 HGNC HGNC:39080 protein_coding YES CCDS74015.1 ENSP00000457807 B7U540.88 UPI0002064ECF NM_001194958.2 tolerated(1) benign(0) 3/3 Gene3D:2.60.40.1400,Pfam:PF17655,Prints:PR01325,PANTHER:PTHR11767,PANTHER:PTHR11767:SF14,Superfamily:SSF81296 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . CGA . 283.6 NA NA NA NA NA NA NA NA NA 21703501 KCNJ18 100134444 . GRCh38 chr17 21703524 21703524 + Silent SNP G G A rs1468105003 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.738G>A p.Leu246= p.L246= ENST00000567955 3/3 NA NA NA NA NA NA KCNJ18,synonymous_variant,p.Leu246=,ENST00000567955,NM_001194958.2; A ENSG00000260458 ENST00000567955 Transcript synonymous_variant 1108/2196 738/1302 246/433 L ctG/ctA rs1468105003 1 NA 1 KCNJ18 HGNC HGNC:39080 protein_coding YES CCDS74015.1 ENSP00000457807 B7U540.88 UPI0002064ECF NM_001194958.2 3/3 Gene3D:2.60.40.1400,Pfam:PF17655,PANTHER:PTHR11767,PANTHER:PTHR11767:SF14,Superfamily:SSF81296 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . TGG . 3215.6 NA NA NA NA NA NA NA NA NA 21703524 KCNJ18 100134444 . GRCh38 chr17 21703531 21703531 + Missense_Mutation SNP A A G rs1182398045 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.745A>G p.Ile249Val p.I249V ENST00000567955 3/3 NA NA NA NA NA NA KCNJ18,missense_variant,p.Ile249Val,ENST00000567955,NM_001194958.2; G ENSG00000260458 ENST00000567955 Transcript missense_variant 1115/2196 745/1302 249/433 I/V Atc/Gtc rs1182398045 1 NA 1 KCNJ18 HGNC HGNC:39080 protein_coding YES CCDS74015.1 ENSP00000457807 B7U540.88 UPI0002064ECF NM_001194958.2 tolerated(0.56) benign(0.001) 3/3 Gene3D:2.60.40.1400,Pfam:PF17655,PANTHER:PTHR11767,PANTHER:PTHR11767:SF14,Superfamily:SSF81296 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . GAT . 25693.6 NA NA NA NA NA NA NA NA NA 21703531 NLK 51701 . GRCh38 chr17 28122714 28122714 + Frame_Shift_Del DEL T T - NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.576del p.Phe192LeufsTer30 p.F192Lfs*30 ENST00000407008 2/11 NA NA NA NA NA NA NLK,frameshift_variant,p.Phe192LeufsTer30,ENST00000407008,NM_016231.5;NLK,frameshift_variant,p.Phe140LeufsTer30,ENST00000496808,; - ENSG00000087095 ENST00000407008 Transcript frameshift_variant 767/3526 570/1584 190/527 C/X tgT/tg COSV69407880 1 NA 1 NLK HGNC HGNC:29858 protein_coding YES CCDS11224.2 ENSP00000384625 Q9UBE8.182 A0A024QZ12.56 UPI0000D48A70 NM_016231.5 2/11 Gene3D:3.30.200.20,Pfam:PF00069,PROSITE_patterns:PS01351,PROSITE_profiles:PS50011,PANTHER:PTHR24055,PANTHER:PTHR24055:SF380,SMART:SM00220,Superfamily:SSF56112,CDD:cd07853 NA NA NA NA NA NA NA NA NA 1 NA NA NA NA HIGH 1 deletion 1 6 1 NA NA . TGTT . 4228.6 NA NA NA NA NA NA NA NA NA 28122713 NLK 51701 . GRCh38 chr17 28168477 28168477 + Silent SNP A A G novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.867A>G p.Glu289= p.E289= ENST00000407008 6/11 NA NA NA NA NA NA NLK,synonymous_variant,p.Glu289=,ENST00000407008,NM_016231.5;NLK,upstream_gene_variant,,ENST00000584188,;NLK,synonymous_variant,p.Glu237=,ENST00000496808,; G ENSG00000087095 ENST00000407008 Transcript synonymous_variant 1064/3526 867/1584 289/527 E gaA/gaG 1 NA 1 NLK HGNC HGNC:29858 protein_coding YES CCDS11224.2 ENSP00000384625 Q9UBE8.182 A0A024QZ12.56 UPI0000D48A70 NM_016231.5 6/11 Gene3D:1.10.510.10,Pfam:PF00069,PROSITE_profiles:PS50011,PANTHER:PTHR24055,PANTHER:PTHR24055:SF380,SMART:SM00220,Superfamily:SSF56112,CDD:cd07853 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . AAG . 261.6 NA NA NA NA NA NA NA NA NA 28168477 NLK 51701 . GRCh38 chr17 28168483 28168483 + Silent SNP A A G novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.873A>G p.Leu291= p.L291= ENST00000407008 6/11 NA NA NA NA NA NA NLK,synonymous_variant,p.Leu291=,ENST00000407008,NM_016231.5;NLK,upstream_gene_variant,,ENST00000584188,;NLK,synonymous_variant,p.Leu239=,ENST00000496808,; G ENSG00000087095 ENST00000407008 Transcript synonymous_variant 1070/3526 873/1584 291/527 L ttA/ttG 1 NA 1 NLK HGNC HGNC:29858 protein_coding YES CCDS11224.2 ENSP00000384625 Q9UBE8.182 A0A024QZ12.56 UPI0000D48A70 NM_016231.5 6/11 Gene3D:1.10.510.10,Pfam:PF00069,PROSITE_profiles:PS50011,PANTHER:PTHR24055,PANTHER:PTHR24055:SF380,SMART:SM00220,Superfamily:SSF56112,CDD:cd07853 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . TAG . 513.6 NA NA NA NA NA NA NA NA NA 28168483 IFT20 90410 . GRCh38 chr17 28328686 28328686 + Frame_Shift_Del DEL T T - novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.443del p.Asn148MetfsTer19 p.N148Mfs*19 ENST00000585089 6/6 NA NA NA NA NA NA IFT20,frameshift_variant,p.Asn148MetfsTer19,ENST00000585089,NM_001267774.2;IFT20,frameshift_variant,p.Asn122MetfsTer19,ENST00000395418,NM_001267776.2;IFT20,frameshift_variant,p.Asn122MetfsTer19,ENST00000585313,NM_001267775.2;IFT20,3_prime_UTR_variant,,ENST00000357896,NM_174887.4;IFT20,3_prime_UTR_variant,,ENST00000588477,NM_001267778.1;IFT20,3_prime_UTR_variant,,ENST00000578009,;IFT20,intron_variant,,ENST00000579419,NM_001267777.2;TMEM97,downstream_gene_variant,,ENST00000226230,NM_014573.3;TMEM97,downstream_gene_variant,,ENST00000336687,;IFT20,downstream_gene_variant,,ENST00000577498,;IFT20,downstream_gene_variant,,ENST00000578122,;IFT20,downstream_gene_variant,,ENST00000578985,;TMEM97,downstream_gene_variant,,ENST00000582113,;TMEM97,downstream_gene_variant,,ENST00000582384,;TMEM97,downstream_gene_variant,,ENST00000583381,;IFT20,non_coding_transcript_exon_variant,,ENST00000583796,;IFT20,downstream_gene_variant,,ENST00000322326,;IFT20,downstream_gene_variant,,ENST00000578547,;IFT20,downstream_gene_variant,,ENST00000580357,;IFT20,downstream_gene_variant,,ENST00000580991,;IFT20,downstream_gene_variant,,ENST00000582797,; - ENSG00000109083 ENST00000585089 Transcript frameshift_variant 714/1071 443/477 148/158 N/X aAt/at 1 NA -1 IFT20 HGNC HGNC:30989 protein_coding YES CCDS58535.1 ENSP00000464443 Q8IY31.145 UPI00004C7A8A NM_001267774.2 6/6 Pfam:PF14931,PANTHER:PTHR31978 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 NA NA NA . CATT . 561.6 NA NA NA NA NA NA NA NA NA 28328685 POLDIP2 26073 . GRCh38 chr17 28355828 28355828 + Silent SNP C C G rs200062837 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.210G>C p.Val70= p.V70= ENST00000540200 2/11 NA NA NA NA NA NA POLDIP2,synonymous_variant,p.Val70=,ENST00000540200,NM_015584.5;POLDIP2,synonymous_variant,p.Val70=,ENST00000618887,NM_001290145.1;TMEM199,upstream_gene_variant,,ENST00000292114,NM_152464.3;TMEM199,upstream_gene_variant,,ENST00000395404,;MIR4723,upstream_gene_variant,,ENST00000585070,;AC002094.1,upstream_gene_variant,,ENST00000591482,;TMEM199,upstream_gene_variant,,ENST00000579762,;TMEM199,upstream_gene_variant,,ENST00000581386,;TMEM199,upstream_gene_variant,,ENST00000483505,;TMEM199,upstream_gene_variant,,ENST00000509083,;TMEM199,upstream_gene_variant,,ENST00000555264,;TMEM199,upstream_gene_variant,,ENST00000580868,;TMEM199,upstream_gene_variant,,ENST00000585027,; G ENSG00000004142 ENST00000540200 Transcript synonymous_variant 289/2670 210/1107 70/368 V gtG/gtC rs200062837 1 NA -1 POLDIP2 HGNC HGNC:23781 protein_coding YES CCDS74018.1 ENSP00000475924 Q9Y2S7.142 UPI00000722ED NM_015584.5 2/11 PANTHER:PTHR14289 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . GCA . 1020.6 8.069e-05 NA NA NA NA NA 0.0001779 NA NA 28355828 SLC46A1 113235 . GRCh38 chr17 28405921 28405921 + Frame_Shift_Del DEL C C - rs80338769 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.194del p.Gly65AlafsTer25 p.G65Afs*25 ENST00000612814 1/5 NA NA NA NA NA NA SLC46A1,frameshift_variant,p.Gly65AlafsTer25,ENST00000612814,NM_080669.6;SLC46A1,frameshift_variant,p.Gly65AlafsTer25,ENST00000618626,NM_001242366.3;SLC46A1,5_prime_UTR_variant,,ENST00000584995,;SLC46A1,5_prime_UTR_variant,,ENST00000581516,;SLC46A1,intron_variant,,ENST00000584426,;SLC46A1,upstream_gene_variant,,ENST00000582735,;SARM1,downstream_gene_variant,,ENST00000585482,NM_015077.4;AC015917.2,intron_variant,,ENST00000580714,;SLC46A1,upstream_gene_variant,,ENST00000578217,;SLC46A1,non_coding_transcript_exon_variant,,ENST00000582590,;SLC46A1,upstream_gene_variant,,ENST00000619923,;,regulatory_region_variant,,ENSR00000552490,; - ENSG00000076351 ENST00000612814 Transcript frameshift_variant 292/6492 194/1380 65/459 G/X gGc/gc rs80338769,CD073700 1 NA -1 SLC46A1 HGNC HGNC:30521 protein_coding YES CCDS74020.1 ENSP00000480703 Q96NT5.154 A0A024QZ15.42 UPI0000050394 NM_080669.6 1/5 Gene3D:1.20.1250.20,PROSITE_profiles:PS50850,PANTHER:PTHR23507,PANTHER:PTHR23507:SF2,CDD:cd17449 NA NA NA NA NA NA NA NA NA pathogenic 17446347,20301716 NA NA NA NA HIGH NA deletion 2 NA 1,1 NA 1 . AGCC . 3677.6 1.284e-05 7.393e-05 NA NA NA NA 9.595e-06 NA 3.398e-05 28405920 NSRP1 84081 . GRCh38 chr17 30178149 30178149 + Frame_Shift_Del DEL A A - novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.257del p.Lys86ArgfsTer23 p.K86Rfs*23 ENST00000247026 4/7 NA NA NA NA NA NA NSRP1,frameshift_variant,p.Lys86ArgfsTer23,ENST00000247026,NM_032141.4;NSRP1,frameshift_variant,p.Lys32ArgfsTer23,ENST00000612959,NM_001261467.1;NSRP1,frameshift_variant,p.Lys32ArgfsTer23,ENST00000580103,;NSRP1,frameshift_variant,p.Lys32ArgfsTer23,ENST00000585881,;NSRP1,frameshift_variant,p.Lys32ArgfsTer23,ENST00000588614,;NSRP1,non_coding_transcript_exon_variant,,ENST00000540900,;NSRP1,non_coding_transcript_exon_variant,,ENST00000577289,;NSRP1,non_coding_transcript_exon_variant,,ENST00000581048,;NSRP1,3_prime_UTR_variant,,ENST00000394826,;NSRP1,3_prime_UTR_variant,,ENST00000475652,;NSRP1,3_prime_UTR_variant,,ENST00000584154,;NSRP1,3_prime_UTR_variant,,ENST00000584317,;NSRP1,3_prime_UTR_variant,,ENST00000589608,; - ENSG00000126653 ENST00000247026 Transcript frameshift_variant 278/2506 250/1677 84/558 K/X Aaa/aa 1 NA 1 NSRP1 HGNC HGNC:25305 protein_coding YES CCDS11255.1 ENSP00000247026 Q9H0G5.140 UPI000006E653 NM_032141.4 4/7 Pfam:PF09745,PANTHER:PTHR31938,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 7 NA NA . AGAA . 1500.6 NA NA NA NA NA NA NA NA NA 30178148 OMG 4974 . GRCh38 chr17 31295272 31295272 + Missense_Mutation SNP T T G rs1237655737 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1060A>C p.Thr354Pro p.T354P ENST00000247271 2/2 NA NA NA NA NA NA OMG,missense_variant,p.Thr354Pro,ENST00000247271,NM_002544.5;NF1,intron_variant,,ENST00000356175,NM_000267.3;NF1,intron_variant,,ENST00000358273,NM_001042492.3;NF1,intron_variant,,ENST00000456735,;OMG,intron_variant,,ENST00000580156,;OMG,non_coding_transcript_exon_variant,,ENST00000582029,;NF1,intron_variant,,ENST00000493220,;NF1,intron_variant,,ENST00000579081,;,regulatory_region_variant,,ENSR00001008400,; G ENSG00000126861 ENST00000247271 Transcript missense_variant 1150/1775 1060/1323 354/440 T/P Act/Cct rs1237655737 1 NA -1 OMG HGNC HGNC:8135 protein_coding YES CCDS11265.1 ENSP00000247271 P23515.181 UPI0000130CE1 NM_002544.5 deleterious(0.01) probably_damaging(0.921) 2/2 PANTHER:PTHR47114,PANTHER:PTHR47114:SF2 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . GTT . 6594.6 NA NA NA NA NA NA NA NA NA 31295272 LRRC37B 114659 . GRCh38 chr17 32021498 32021498 + Missense_Mutation SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.433C>T p.His145Tyr p.H145Y ENST00000327564 1/12 NA NA NA NA NA NA LRRC37B,missense_variant,p.His145Tyr,ENST00000327564,;LRRC37B,missense_variant,p.His36Tyr,ENST00000543378,NM_001321350.2;LRRC37B,missense_variant,p.His118Tyr,ENST00000341671,;LRRC37B,missense_variant,p.His118Tyr,ENST00000394713,NM_052888.3;LRRC37B,missense_variant,p.His130Tyr,ENST00000584368,;LRRC37B,missense_variant,p.His36Tyr,ENST00000579206,;LRRC37B,missense_variant,p.His100Tyr,ENST00000583342,;LRRC37B,upstream_gene_variant,,ENST00000580871,;LRRC37B,downstream_gene_variant,,ENST00000581370,;LRRC37B,upstream_gene_variant,,ENST00000581786,;LRRC37B,missense_variant,p.His130Tyr,ENST00000578674,;LRRC37B,non_coding_transcript_exon_variant,,ENST00000583204,;LRRC37B,upstream_gene_variant,,ENST00000582815,;AC090616.4,downstream_gene_variant,,ENST00000448026,; T ENSG00000185158 ENST00000327564 Transcript missense_variant 494/3162 433/2925 145/974 H/Y Cat/Tat 1 NA 1 LRRC37B HGNC HGNC:29070 protein_coding YES ENSP00000332536 J3QSU1.57 UPI0000E59F08 deleterious(0) benign(0.146) 1/12 PANTHER:PTHR23045,PANTHER:PTHR23045:SF11 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . ACA . 4285.6 NA NA NA NA NA NA NA NA NA 32021498 UNC45B 146862 . GRCh38 chr17 35169892 35169892 + Missense_Mutation SNP C C T rs755036976 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1508C>T p.Ala503Val p.A503V ENST00000268876 11/20 NA NA NA NA NA NA UNC45B,missense_variant,p.Ala503Val,ENST00000268876,NM_173167.3;UNC45B,missense_variant,p.Ala503Val,ENST00000394570,NM_001033576.2,NM_001267052.2;UNC45B,intron_variant,,ENST00000591048,NM_001308281.1;AC022916.4,upstream_gene_variant,,ENST00000585646,; T ENSG00000141161 ENST00000268876 Transcript missense_variant 1605/5679 1508/2796 503/931 A/V gCg/gTg rs755036976 1 NA 1 UNC45B HGNC HGNC:14304 protein_coding YES CCDS11292.1 ENSP00000268876 Q8IWX7.148 UPI0000074455 NM_173167.3 deleterious(0.01) probably_damaging(0.999) 11/20 Gene3D:1.25.10.10,PANTHER:PTHR45994,PANTHER:PTHR45994:SF2,Superfamily:SSF48371 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE NA SNV 5 NA NA 1 . GCG . 3835.6 1.591e-05 NA 2.891e-05 NA NA NA 2.639e-05 NA NA 35169892 TBC1D3B 0 . GRCh38 chr17 36166428 36166428 + Missense_Mutation SNP G G A rs1488697631 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1217C>T p.Pro406Leu p.P406L ENST00000611257 14/14 NA NA NA NA NA NA TBC1D3B,missense_variant,p.Pro406Leu,ENST00000611257,NM_001001417.6;AC243829.2,intron_variant,,ENST00000617914,;TBC1D3B,downstream_gene_variant,,ENST00000622280,;,regulatory_region_variant,,ENSR00000283242,;AC243829.7,downstream_gene_variant,,ENST00000633081,; A ENSG00000274808 ENST00000611257 Transcript missense_variant 1334/2081 1217/1650 406/549 P/L cCg/cTg rs1488697631 1 NA -1 TBC1D3B HGNC HGNC:27011 protein_coding YES CCDS42300.1 ENSP00000478473 A6NDS4.103 UPI000292EEF0 NM_001001417.6 tolerated(0.18) benign(0.028) 14/14 PANTHER:PTHR22957,PANTHER:PTHR22957:SF537,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CGG . 155.6 NA NA NA NA NA NA NA NA NA 36166428 TBC1D3B 0 . GRCh38 chr17 36166450 36166450 + Missense_Mutation SNP G G A rs1193023938 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1195C>T p.Arg399Trp p.R399W ENST00000611257 14/14 NA NA NA NA NA NA TBC1D3B,missense_variant,p.Arg399Trp,ENST00000611257,NM_001001417.6;AC243829.2,intron_variant,,ENST00000617914,;TBC1D3B,downstream_gene_variant,,ENST00000622280,;,regulatory_region_variant,,ENSR00000283242,;AC243829.7,downstream_gene_variant,,ENST00000633081,; A ENSG00000274808 ENST00000611257 Transcript missense_variant 1312/2081 1195/1650 399/549 R/W Cgg/Tgg rs1193023938 1 NA -1 TBC1D3B HGNC HGNC:27011 protein_coding YES CCDS42300.1 ENSP00000478473 A6NDS4.103 UPI000292EEF0 NM_001001417.6 tolerated(0.13) benign(0) 14/14 PANTHER:PTHR22957,PANTHER:PTHR22957:SF537,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CGC . 95.6 NA NA NA NA NA NA NA NA NA 36166450 TBC1D3B 0 . GRCh38 chr17 36166459 36166459 + Missense_Mutation SNP G G A rs1261322959 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1186C>T p.Arg396Trp p.R396W ENST00000611257 14/14 NA NA NA NA NA NA TBC1D3B,missense_variant,p.Arg396Trp,ENST00000611257,NM_001001417.6;AC243829.2,intron_variant,,ENST00000617914,;TBC1D3B,downstream_gene_variant,,ENST00000622280,;,regulatory_region_variant,,ENSR00000283242,;AC243829.7,downstream_gene_variant,,ENST00000633081,; A ENSG00000274808 ENST00000611257 Transcript missense_variant 1303/2081 1186/1650 396/549 R/W Cgg/Tgg rs1261322959 1 NA -1 TBC1D3B HGNC HGNC:27011 protein_coding YES CCDS42300.1 ENSP00000478473 A6NDS4.103 UPI000292EEF0 NM_001001417.6 tolerated(0.06) benign(0.012) 14/14 PANTHER:PTHR22957,PANTHER:PTHR22957:SF537,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CGG . 151.6 NA NA NA NA NA NA NA NA NA 36166459 TBC1D3B 0 . GRCh38 chr17 36167617 36167617 + Missense_Mutation SNP C C A rs1381485068 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1008G>T p.Glu336Asp p.E336D ENST00000611257 13/14 NA NA NA NA NA NA TBC1D3B,missense_variant,p.Glu336Asp,ENST00000611257,NM_001001417.6;TBC1D3B,downstream_gene_variant,,ENST00000616006,;AC243829.2,intron_variant,,ENST00000617914,;TBC1D3B,downstream_gene_variant,,ENST00000622280,;AC243829.7,downstream_gene_variant,,ENST00000633081,; A ENSG00000274808 ENST00000611257 Transcript missense_variant 1125/2081 1008/1650 336/549 E/D gaG/gaT rs1381485068 1 NA -1 TBC1D3B HGNC HGNC:27011 protein_coding YES CCDS42300.1 ENSP00000478473 A6NDS4.103 UPI000292EEF0 NM_001001417.6 tolerated(1) benign(0) 13/14 PANTHER:PTHR22957,PANTHER:PTHR22957:SF537 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CCT . 547.6 NA NA NA NA NA NA NA NA NA 36167617 CCL4L2 0 . GRCh38 chr17 36212343 36212343 + Missense_Mutation SNP G G A rs4796194 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.232G>A p.Gly78Arg p.G78R ENST00000617405 3/3 NA NA NA NA NA NA CCL4L2,missense_variant,p.Gly78Arg,ENST00000617405,NM_001291475.2;CCL4L2,missense_variant,p.Gly43Arg,ENST00000613173,NM_001291474.2;CCL4L2,synonymous_variant,p.Pro67=,ENST00000615418,NM_001291472.2;CCL4L2,synonymous_variant,p.Pro74=,ENST00000620098,NM_001291471.2;CCL4L2,3_prime_UTR_variant,,ENST00000617416,NM_001291470.2;CCL4L2,3_prime_UTR_variant,,ENST00000620732,NM_001291469.2;CCL4L2,intron_variant,,ENST00000610565,NM_001291473.2;CCL4L2,intron_variant,,ENST00000620055,;CCL4L2,intron_variant,,ENST00000620250,;CCL4L2,intron_variant,,ENST00000620576,NM_001291468.2;,regulatory_region_variant,,ENSR00000554315,; A ENSG00000276070 ENST00000617405 Transcript missense_variant 311/841 232/312 78/103 G/R Ggg/Agg rs4796194 1 NA 1 CCL4L2 HGNC HGNC:24066 protein_coding YES CCDS77000.1 ENSP00000483330 Q8NHW4.146 UPI000050BF29 NM_001291475.2 tolerated(0.06) probably_damaging(0.991) 3/3 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CGG . 19425.03 1.739e-05 0.0002627 NA NA NA NA NA NA NA 36212343 TBC1D3I 0 . GRCh38 chr17 36254024 36254024 + Missense_Mutation SNP C C T rs1379298895 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1580G>A p.Cys527Tyr p.C527Y ENST00000621034 14/14 NA NA NA NA NA NA TBC1D3I,missense_variant,p.Cys527Tyr,ENST00000621034,NM_001291463.1;TBC1D3I,3_prime_UTR_variant,,ENST00000616671,;TBC1D3I,3_prime_UTR_variant,,ENST00000618620,;,regulatory_region_variant,,ENSR00000283247,;,regulatory_region_variant,,ENSR00001008921,; T ENSG00000274933 ENST00000621034 Transcript missense_variant 1720/1790 1580/1650 527/549 C/Y tGt/tAt rs1379298895 1 NA -1 TBC1D3I HGNC HGNC:32709 protein_coding YES CCDS74039.1 ENSP00000481258 A0A087WXS9.40 UPI0002064FA0 NM_001291463.1 deleterious_low_confidence(0) probably_damaging(0.929) 14/14 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . ACA . 256.6 NA NA NA NA NA NA NA NA NA 36254024 TBC1D3I 0 . GRCh38 chr17 36254103 36254103 + Missense_Mutation SNP G G A rs1211240498,rs1432268559 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1501C>T p.Arg501Trp p.R501W ENST00000621034 14/14 NA NA NA NA NA NA TBC1D3I,missense_variant,p.Arg501Trp,ENST00000621034,NM_001291463.1;TBC1D3I,3_prime_UTR_variant,,ENST00000616671,;TBC1D3I,3_prime_UTR_variant,,ENST00000618620,;,regulatory_region_variant,,ENSR00000283247,;,regulatory_region_variant,,ENSR00001008921,; A ENSG00000274933 ENST00000621034 Transcript missense_variant 1641/1790 1501/1650 501/549 R/W Cgg/Tgg rs1211240498,rs1432268559 1 NA -1 TBC1D3I HGNC HGNC:32709 protein_coding YES CCDS74039.1 ENSP00000481258 A0A087WXS9.40 UPI0002064FA0 NM_001291463.1 deleterious_low_confidence(0.01) benign(0.003) 14/14 PANTHER:PTHR22957,PANTHER:PTHR22957:SF537 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CGC . 181.6 NA NA NA NA NA NA NA NA NA 36254103 TBC1D3I 0 . GRCh38 chr17 36254377 36254377 + Silent SNP T T C rs1435416774,rs1458440794 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1227A>G p.Ala409= p.A409= ENST00000621034 14/14 NA NA NA NA NA NA TBC1D3I,synonymous_variant,p.Ala409=,ENST00000621034,NM_001291463.1;TBC1D3I,3_prime_UTR_variant,,ENST00000616671,;TBC1D3I,3_prime_UTR_variant,,ENST00000618620,;,regulatory_region_variant,,ENSR00000283247,; C ENSG00000274933 ENST00000621034 Transcript synonymous_variant 1367/1790 1227/1650 409/549 A gcA/gcG rs1435416774,rs1458440794 1 NA -1 TBC1D3I HGNC HGNC:32709 protein_coding YES CCDS74039.1 ENSP00000481258 A0A087WXS9.40 UPI0002064FA0 NM_001291463.1 14/14 PANTHER:PTHR22957,PANTHER:PTHR22957:SF537,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . GTG . 35.6 NA NA NA NA NA NA NA NA NA 36254377 TBC1D3I 0 . GRCh38 chr17 36254418 36254418 + Missense_Mutation SNP G G A rs1377294166,rs513363 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1186C>T p.Arg396Trp p.R396W ENST00000621034 14/14 NA NA NA NA NA NA TBC1D3I,missense_variant,p.Arg396Trp,ENST00000621034,NM_001291463.1;TBC1D3I,3_prime_UTR_variant,,ENST00000616671,;TBC1D3I,3_prime_UTR_variant,,ENST00000618620,;,regulatory_region_variant,,ENSR00000283247,; A ENSG00000274933 ENST00000621034 Transcript missense_variant 1326/1790 1186/1650 396/549 R/W Cgg/Tgg rs1377294166,rs513363 1 NA -1 TBC1D3I HGNC HGNC:32709 protein_coding YES CCDS74039.1 ENSP00000481258 A0A087WXS9.40 UPI0002064FA0 NM_001291463.1 deleterious(0.05) benign(0.013) 14/14 PANTHER:PTHR22957,PANTHER:PTHR22957:SF537,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CGG . 47.6 NA NA NA NA NA NA NA NA NA 36254418 TBC1D3F 0 . GRCh38 chr17 36432888 36432888 + Missense_Mutation SNP G G A rs1473189184 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.601C>T p.Leu201Phe p.L201F ENST00000620210 9/14 NA NA NA NA NA NA TBC1D3F,missense_variant,p.Leu201Phe,ENST00000620210,NM_032258.5; A ENSG00000275954 ENST00000620210 Transcript missense_variant 758/2117 601/1488 201/495 L/F Ctt/Ttt rs1473189184 1 NA -1 TBC1D3F HGNC HGNC:18257 protein_coding YES ENSP00000477679 A0A087WT91.31 UPI0002466C20 NM_032258.5 deleterious(0) probably_damaging(0.917) 9/14 Gene3D:1.10.8.270,Pfam:PF00566,PROSITE_profiles:PS50086,PANTHER:PTHR22957,PANTHER:PTHR22957:SF537,SMART:SM00164,Superfamily:SSF47923 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . AGA . 39.28 NA NA NA NA NA NA NA NA NA 36432888 TBC1D3F 0 . GRCh38 chr17 36435803 36435803 + Missense_Mutation SNP G G T rs1235437204 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.252C>A p.Asp84Glu p.D84E ENST00000620210 5/14 NA NA NA NA NA NA TBC1D3F,missense_variant,p.Asp84Glu,ENST00000620210,NM_032258.5; T ENSG00000275954 ENST00000620210 Transcript missense_variant 409/2117 252/1488 84/495 D/E gaC/gaA rs1235437204 1 NA -1 TBC1D3F HGNC HGNC:18257 protein_coding YES ENSP00000477679 A0A087WT91.31 UPI0002466C20 NM_032258.5 tolerated(0.98) benign(0) 5/14 PANTHER:PTHR22957,PANTHER:PTHR22957:SF537,Superfamily:SSF47923 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . AGT . 1835.03 NA NA NA NA NA NA NA NA NA 36435803 MYO19 0 . GRCh38 chr17 36506474 36506474 + Silent SNP G G A rs769256818 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1779C>T p.Thr593= p.T593= ENST00000614623 18/26 NA NA NA NA NA NA MYO19,synonymous_variant,p.Thr593=,ENST00000614623,NM_001163735.1;MYO19,intron_variant,,ENST00000610930,NM_025109.5;MYO19,synonymous_variant,p.Thr593=,ENST00000610992,;MYO19,non_coding_transcript_exon_variant,,ENST00000611622,;MYO19,non_coding_transcript_exon_variant,,ENST00000611794,;MYO19,non_coding_transcript_exon_variant,,ENST00000611125,;MYO19,non_coding_transcript_exon_variant,,ENST00000614416,;MYO19,intron_variant,,ENST00000621550,;MYO19,upstream_gene_variant,,ENST00000610576,;MYO19,downstream_gene_variant,,ENST00000611063,;MYO19,downstream_gene_variant,,ENST00000612097,;MYO19,downstream_gene_variant,,ENST00000615902,;MYO19,upstream_gene_variant,,ENST00000617189,;MYO19,downstream_gene_variant,,ENST00000620413,;MYO19,upstream_gene_variant,,ENST00000620943,; A ENSG00000278259 ENST00000614623 Transcript synonymous_variant 2302/4054 1779/2913 593/970 T acC/acT rs769256818 1 NA -1 MYO19 HGNC HGNC:26234 protein_coding YES CCDS54112.1 ENSP00000479518 Q96H55.149 UPI000173AA19 NM_001163735.1 18/26 Gene3D:1.20.58.530,Gene3D:3.40.850.10,Pfam:PF00063,PROSITE_profiles:PS51456,PANTHER:PTHR13140,PANTHER:PTHR13140:SF289,SMART:SM00242,Superfamily:SSF52540,CDD:cd14880 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 2 NA NA NA . CGG . 2627.6 1.61e-05 NA NA NA NA NA 8.893e-06 NA 9.807e-05 36506474 ACACA 0 . GRCh38 chr17 37113104 37113104 + Missense_Mutation SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.6436G>A p.Ala2146Thr p.A2146T ENST00000616317 51/56 NA NA NA NA NA NA ACACA,missense_variant,p.Ala2146Thr,ENST00000616317,NM_198834.3;ACACA,missense_variant,p.Ala2051Thr,ENST00000612895,NM_198837.1;ACACA,missense_variant,p.Ala2109Thr,ENST00000614428,NM_198839.2,NM_198836.2;ACACA,missense_variant,p.Ala2031Thr,ENST00000617649,NM_198838.1;ACACA,missense_variant,p.Ala761Thr,ENST00000619546,;ACACA,3_prime_UTR_variant,,ENST00000614482,;ACACA,non_coding_transcript_exon_variant,,ENST00000613776,; T ENSG00000278540 ENST00000616317 Transcript missense_variant 6973/10013 6436/7152 2146/2383 A/T Gct/Act 1 NA -1 ACACA HGNC HGNC:84 protein_coding YES CCDS42302.1 ENSP00000483300 Q13085.206 UPI00002263AC NM_198834.3 deleterious(0) probably_damaging(0.999) 51/56 Gene3D:3.90.226.10,Pfam:PF01039,PROSITE_profiles:PS50989,PANTHER:PTHR45728,PANTHER:PTHR45728:SF5,Superfamily:SSF52096 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . GCA . 415.6 NA NA NA NA NA NA NA NA NA 37113104 CWC25 0 . GRCh38 chr17 38809735 38809736 + Frame_Shift_Del DEL AG AG - rs773119197 NA HCI-EC-23 NORMAL AG AG NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.656_657del p.Pro219ArgfsTer16 p.P219Rfs*16 ENST00000614790 6/10 NA NA NA NA NA NA CWC25,frameshift_variant,p.Pro219ArgfsTer16,ENST00000614790,NM_017748.5;CWC25,non_coding_transcript_exon_variant,,ENST00000619818,;CWC25,3_prime_UTR_variant,,ENST00000619299,;CWC25,3_prime_UTR_variant,,ENST00000618122,;CWC25,3_prime_UTR_variant,,ENST00000619462,;CWC25,non_coding_transcript_exon_variant,,ENST00000611845,;CWC25,downstream_gene_variant,,ENST00000622665,; - ENSG00000273559 ENST00000614790 Transcript frameshift_variant 794-795/3067 656-657/1278 219/425 P/X cCT/c rs773119197 1 NA -1 CWC25 HGNC HGNC:25989 protein_coding YES CCDS45663.1 ENSP00000478070 Q9NXE8.128 UPI000007081D NM_017748.5 6/10 PDB-ENSP_mappings:5yzg.X,PANTHER:PTHR16196,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 NA NA NA . ACAGG . 957.6 2.408e-05 0.0001292 NA NA 0.0001113 NA 1.771e-05 NA NA 38809734 FBXO47 494188 . GRCh38 chr17 38957230 38957230 + Silent SNP A A G novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.376T>C p.Leu126= p.L126= ENST00000378079 4/11 NA NA NA NA NA NA FBXO47,synonymous_variant,p.Leu126=,ENST00000378079,NM_001008777.3; G ENSG00000204952 ENST00000378079 Transcript synonymous_variant 577/2303 376/1359 126/452 L Ttg/Ctg 1 NA -1 FBXO47 HGNC HGNC:31969 protein_coding YES CCDS32639.1 ENSP00000367319 Q5MNV8.101 UPI00004DDAF1 NM_001008777.3 4/11 PANTHER:PTHR34098,PANTHER:PTHR34098:SF1 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . AAT . 691.6 NA NA NA NA NA NA NA NA NA 38957230 STAC2 342667 . GRCh38 chr17 39216812 39216812 + Missense_Mutation SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.584C>T p.Thr195Ile p.T195I ENST00000333461 4/11 NA NA NA NA NA NA STAC2,missense_variant,p.Thr195Ile,ENST00000333461,NM_001351360.2,NM_198993.5;STAC2,splice_region_variant,p.Leu128=,ENST00000584501,; A ENSG00000141750 ENST00000333461 Transcript missense_variant,splice_region_variant 1027/3430 584/1236 195/411 T/I aCt/aTt 1 NA -1 STAC2 HGNC HGNC:23990 protein_coding YES CCDS11335.1 ENSP00000327509 Q6ZMT1.131 D0IN09.89 UPI0000223E4D NM_001351360.2,NM_198993.5 tolerated(0.66) benign(0.134) 4/11 Pfam:PF16664,PANTHER:PTHR15135,PANTHER:PTHR15135:SF5,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . AGT . 2081.6 NA NA NA NA NA NA NA NA NA 39216812 WIPF2 147179 . GRCh38 chr17 40260601 40260601 + Missense_Mutation SNP A A G novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.130A>G p.Ile44Val p.I44V ENST00000323571 3/8 NA NA NA NA NA NA WIPF2,missense_variant,p.Ile44Val,ENST00000323571,NM_133264.5;WIPF2,missense_variant,p.Ile44Val,ENST00000585043,;WIPF2,missense_variant,p.Ile44Val,ENST00000394103,;WIPF2,missense_variant,p.Ile44Val,ENST00000583130,;WIPF2,missense_variant,p.Ile44Val,ENST00000584296,;WIPF2,intron_variant,,ENST00000583268,;WIPF2,non_coding_transcript_exon_variant,,ENST00000494757,;WIPF2,missense_variant,p.Ile44Val,ENST00000582781,;WIPF2,non_coding_transcript_exon_variant,,ENST00000578304,; G ENSG00000171475 ENST00000323571 Transcript missense_variant 388/7492 130/1323 44/440 I/V Att/Gtt 1 NA 1 WIPF2 HGNC HGNC:30923 protein_coding YES CCDS11364.1 ENSP00000320924 Q8TF74.146 UPI000004D250 NM_133264.5 deleterious(0) probably_damaging(0.987) 3/8 Pfam:PF02205,PROSITE_profiles:PS51082,PANTHER:PTHR23202,PANTHER:PTHR23202:SF3,SMART:SM00246 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CAT . 2912.6 NA NA NA NA NA NA NA NA NA 40260601 KRT28 162605 . GRCh38 chr17 40799514 40799514 + Missense_Mutation SNP G G T NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.380C>A p.Pro127His p.P127H ENST00000306658 1/8 NA NA NA NA NA NA KRT28,missense_variant,p.Pro127His,ENST00000306658,NM_181535.3;AC090283.1,upstream_gene_variant,,ENST00000582101,; T ENSG00000173908 ENST00000306658 Transcript missense_variant 446/1692 380/1395 127/464 P/H cCt/cAt COSV60684625 1 NA -1 KRT28 HGNC HGNC:30842 protein_coding YES CCDS11376.1 ENSP00000305263 Q7Z3Y7.122 UPI0000246D70 NM_181535.3 deleterious(0.01) possibly_damaging(0.599) 1/8 Pfam:PF00038,PROSITE_profiles:PS51842,PANTHER:PTHR23239,PANTHER:PTHR23239:SF215,SMART:SM01391 NA NA NA NA NA NA NA NA NA 1 NA NA NA NA MODERATE 1 SNV 1 NA 1 NA NA . AGG . 3299.6 NA NA NA NA NA NA NA NA NA 40799514 KRTAP1-3 81850 . GRCh38 chr17 41034702 41034703 + In_Frame_Ins INS - - CAGCAGCTTGGCTGGCAGCAGCTGGTCTCA rs1046579147 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.90_119dup p.Glu31_Cys40dup p.E31_C40dup ENST00000344363 1/1 NA NA NA NA NA NA KRTAP1-3,inframe_insertion,p.Glu31_Cys40dup,ENST00000344363,NM_030966.2;KRTAP1-4,upstream_gene_variant,,ENST00000377747,NM_001257305.1; CAGCAGCTTGGCTGGCAGCAGCTGGTCTCA ENSG00000221880 ENST00000344363 Transcript inframe_insertion 172-173/991 119-120/504 40/167 C/CETSCCQPSCC tgc/tgTGAGACCAGCTGCTGCCAGCCAAGCTGCTGc rs1046579147 1 NA -1 KRTAP1-3 HGNC HGNC:16771 protein_coding YES CCDS42323.1 ENSP00000344420 Q8IUG1.107 UPI000006DC17 NM_030966.2 1/1 Pfam:PF01500,PANTHER:PTHR23262,PANTHER:PTHR23262,PANTHER:PTHR23262:SF193,PANTHER:PTHR23262:SF193,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 insertion NA NA NA NA . GGC . 4742.64 NA NA NA NA NA NA NA NA NA 41034702 KRTAP2-2 728279 . GRCh38 chr17 41054937 41054937 + Missense_Mutation SNP C C G rs1361385261 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.275G>C p.Cys92Ser p.C92S ENST00000542910 1/2 NA NA NA NA NA NA KRTAP2-2,missense_variant,p.Cys92Ser,ENST00000398477,NM_033032.2;KRTAP2-2,missense_variant,p.Cys92Ser,ENST00000542910,;KRTAP2-3,downstream_gene_variant,,ENST00000391418,NM_001165252.2;,regulatory_region_variant,,ENSR00000555526,;,regulatory_region_variant,,ENSR00001009519,; G ENSG00000214518 ENST00000542910 Transcript missense_variant 275/390 275/390 92/129 C/S tGc/tCc rs1361385261,COSV66952607 1 NA -1 KRTAP2-2 HGNC HGNC:18905 protein_coding YES ENSP00000437407 F5H6S0.47 UPI00015DFB30 tolerated_low_confidence(0.51) benign(0.143) 1/2 PANTHER:PTHR23262,PANTHER:PTHR23262:SF7 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 5 NA 0,1 NA NA . GCA . 725.6 4.321e-05 NA 5.047e-05 0.0002166 NA NA 6.357e-05 NA NA 41054937 KRTAP2-2 728279 . GRCh38 chr17 41054940 41054941 + Frame_Shift_Ins INS - - A rs1312840649 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.271_272insT p.Pro91LeufsTer? p.P91Lfs*? ENST00000542910 1/2 NA NA NA NA NA NA KRTAP2-2,frameshift_variant,p.Pro91LeufsTer111,ENST00000398477,NM_033032.2;KRTAP2-2,frameshift_variant,p.Pro91LeufsTer?,ENST00000542910,;KRTAP2-3,downstream_gene_variant,,ENST00000391418,NM_001165252.2;,regulatory_region_variant,,ENSR00000555526,;,regulatory_region_variant,,ENSR00001009519,; A ENSG00000214518 ENST00000542910 Transcript frameshift_variant 271-272/390 271-272/390 91/129 P/LX ccc/cTcc rs1312840649 1 NA -1 KRTAP2-2 HGNC HGNC:18905 protein_coding YES ENSP00000437407 F5H6S0.47 UPI00015DFB30 1/2 PANTHER:PTHR23262,PANTHER:PTHR23262:SF7 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 insertion 5 NA NA NA . GGG . 469.64 1.915e-05 NA 4.452e-05 NA NA NA 2.683e-05 NA NA 41054940 KRTAP2-2 728279 . GRCh38 chr17 41054941 41054942 + Frame_Shift_Ins INS - - GT rs1373958086 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.270_271insAC p.Pro91ThrfsTer? p.P91Tfs*? ENST00000542910 1/2 NA NA NA NA NA NA KRTAP2-2,frameshift_variant,p.Pro91ThrfsTer96,ENST00000398477,NM_033032.2;KRTAP2-2,frameshift_variant,p.Pro91ThrfsTer?,ENST00000542910,;KRTAP2-3,downstream_gene_variant,,ENST00000391418,NM_001165252.2;,regulatory_region_variant,,ENSR00000555526,;,regulatory_region_variant,,ENSR00001009519,; GT ENSG00000214518 ENST00000542910 Transcript frameshift_variant 270-271/390 270-271/390 90-91/129 -/X -/AC rs1373958086 1 NA -1 KRTAP2-2 HGNC HGNC:18905 protein_coding YES ENSP00000437407 F5H6S0.47 UPI00015DFB30 1/2 PANTHER:PTHR23262,PANTHER:PTHR23262:SF7 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 insertion 5 NA NA NA . GGC . 469.64 9.936e-06 NA 4.625e-05 NA NA NA NA NA NA 41054941 KRTAP4-7 81871 . GRCh38 chr17 41084543 41084543 + Missense_Mutation SNP A A T rs9894966 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.337A>T p.Ser113Cys p.S113C ENST00000391417 1/1 NA NA NA NA NA NA KRTAP4-7,missense_variant,p.Ser113Cys,ENST00000391417,NM_033061.3;KRTAP4-7,missense_variant,p.Ser113Cys,ENST00000621138,;,regulatory_region_variant,,ENSR00000555534,;,TF_binding_site_variant,,ENSM00198439860,; T ENSG00000240871 ENST00000391417 Transcript missense_variant 394/992 337/468 113/155 S/C Agc/Tgc rs9894966,COSV66951080 1 NA 1 KRTAP4-7 HGNC HGNC:18898 protein_coding YES CCDS45673.1 ENSP00000375236 Q9BYR0.120 UPI00001B0238 NM_033061.3 deleterious(0.04) benign(0.005) 1/1 Pfam:PF13885,PANTHER:PTHR23262,PANTHER:PTHR23262:SF172,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV NA NA 0,1 NA NA . CAG . 87.6 NA NA NA NA NA NA NA NA NA 41084543 KRTAP4-11 728224 . GRCh38 chr17 41118163 41118163 + Silent SNP C C T rs425487 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.153G>A p.Arg51= p.R51= ENST00000391413 1/1 NA NA NA NA NA NA KRTAP4-11,synonymous_variant,p.Arg51=,ENST00000391413,NM_033059.4;KRTAP4-12,downstream_gene_variant,,ENST00000394014,NM_031854.3;,regulatory_region_variant,,ENSR00001009524,; T ENSG00000212721 ENST00000391413 Transcript synonymous_variant 211/1193 153/588 51/195 R agG/agA rs425487,COSV66948104 1 NA -1 KRTAP4-11 HGNC HGNC:18911 protein_coding YES CCDS45675.1 ENSP00000375232 Q9BYQ6.127 UPI00001AFBF7 NM_033059.4 1/1 Pfam:PF13885,PANTHER:PTHR23262,PANTHER:PTHR23262:SF160,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA LOW 1 SNV NA NA 0,1 NA NA . GCC . 4054.6 0.0001569 0.0001467 0.0001261 NA 5.673e-05 0.0002663 0.000231 NA NA 41118163 KRTAP4-11 728224 . GRCh38 chr17 41118174 41118174 + Missense_Mutation SNP T T A rs760092771 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.142A>T p.Ser48Cys p.S48C ENST00000391413 1/1 NA NA NA NA NA NA KRTAP4-11,missense_variant,p.Ser48Cys,ENST00000391413,NM_033059.4;KRTAP4-12,downstream_gene_variant,,ENST00000394014,NM_031854.3;,regulatory_region_variant,,ENSR00001009524,; A ENSG00000212721 ENST00000391413 Transcript missense_variant 200/1193 142/588 48/195 S/C Agc/Tgc rs760092771 1 NA -1 KRTAP4-11 HGNC HGNC:18911 protein_coding YES CCDS45675.1 ENSP00000375232 Q9BYQ6.127 UPI00001AFBF7 NM_033059.4 deleterious(0.03) benign(0.087) 1/1 Pfam:PF13885,PANTHER:PTHR23262,PANTHER:PTHR23262:SF160,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA 31113963 NA NA NA NA MODERATE 1 SNV NA NA NA NA . CTG . 3266.6 NA NA NA NA NA NA NA NA NA 41118174 KRTAP4-11 728224 . GRCh38 chr17 41118183 41118183 + Missense_Mutation SNP A A T rs763737606 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.133T>A p.Cys45Ser p.C45S ENST00000391413 1/1 NA NA NA NA NA NA KRTAP4-11,missense_variant,p.Cys45Ser,ENST00000391413,NM_033059.4;KRTAP4-12,downstream_gene_variant,,ENST00000394014,NM_031854.3;,regulatory_region_variant,,ENSR00001009524,; T ENSG00000212721 ENST00000391413 Transcript missense_variant 191/1193 133/588 45/195 C/S Tgt/Agt rs763737606,COSV66948790 1 NA -1 KRTAP4-11 HGNC HGNC:18911 protein_coding YES CCDS45675.1 ENSP00000375232 Q9BYQ6.127 UPI00001AFBF7 NM_033059.4 tolerated(0.14) benign(0.201) 1/1 Pfam:PF13885,PANTHER:PTHR23262,PANTHER:PTHR23262:SF160,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA 0,1 31113963 NA NA NA NA MODERATE 1 SNV NA NA 0,1 NA NA . CAG . 2399.6 NA NA NA NA NA NA NA NA NA 41118183 KRTAP4-11 728224 . GRCh38 chr17 41118185 41118185 + Missense_Mutation SNP C C T rs774046661 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.131G>A p.Cys44Tyr p.C44Y ENST00000391413 1/1 NA NA NA NA NA NA KRTAP4-11,missense_variant,p.Cys44Tyr,ENST00000391413,NM_033059.4;KRTAP4-12,downstream_gene_variant,,ENST00000394014,NM_031854.3;,regulatory_region_variant,,ENSR00001009524,; T ENSG00000212721 ENST00000391413 Transcript missense_variant 189/1193 131/588 44/195 C/Y tGc/tAc rs774046661,COSV66948793 1 NA -1 KRTAP4-11 HGNC HGNC:18911 protein_coding YES CCDS45675.1 ENSP00000375232 Q9BYQ6.127 UPI00001AFBF7 NM_033059.4 deleterious(0.01) possibly_damaging(0.675) 1/1 Pfam:PF13885,PANTHER:PTHR23262,PANTHER:PTHR23262:SF160,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA 0,1 31113963 NA NA NA NA MODERATE 1 SNV NA NA 0,1 NA NA . GCA . 2180.6 4.003e-06 NA NA NA 5.44e-05 NA NA NA NA 41118185 KRTAP4-11 728224 . GRCh38 chr17 41118196 41118196 + Silent SNP A A G rs1430885187 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.120T>C p.Cys40= p.C40= ENST00000391413 1/1 NA NA NA NA NA NA KRTAP4-11,synonymous_variant,p.Cys40=,ENST00000391413,NM_033059.4;KRTAP4-12,downstream_gene_variant,,ENST00000394014,NM_031854.3;,regulatory_region_variant,,ENSR00001009524,; G ENSG00000212721 ENST00000391413 Transcript synonymous_variant 178/1193 120/588 40/195 C tgT/tgC rs1430885187 1 NA -1 KRTAP4-11 HGNC HGNC:18911 protein_coding YES CCDS45675.1 ENSP00000375232 Q9BYQ6.127 UPI00001AFBF7 NM_033059.4 1/1 Pfam:PF13885,PANTHER:PTHR23262,PANTHER:PTHR23262:SF160,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV NA NA NA NA . GAC . 1185.6 NA NA NA NA NA NA NA NA NA 41118196 KRTAP4-11 728224 . GRCh38 chr17 41118197 41118197 + Missense_Mutation SNP C C T rs1160698604 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.119G>A p.Cys40Tyr p.C40Y ENST00000391413 1/1 NA NA NA NA NA NA KRTAP4-11,missense_variant,p.Cys40Tyr,ENST00000391413,NM_033059.4;KRTAP4-12,downstream_gene_variant,,ENST00000394014,NM_031854.3;,regulatory_region_variant,,ENSR00001009524,; T ENSG00000212721 ENST00000391413 Transcript missense_variant 177/1193 119/588 40/195 C/Y tGt/tAt rs1160698604 1 NA -1 KRTAP4-11 HGNC HGNC:18911 protein_coding YES CCDS45675.1 ENSP00000375232 Q9BYQ6.127 UPI00001AFBF7 NM_033059.4 tolerated(0.09) benign(0.041) 1/1 Pfam:PF13885,PANTHER:PTHR23262,PANTHER:PTHR23262:SF160,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV NA NA NA NA . ACA . 972.6 NA NA NA NA NA NA NA NA NA 41118197 KRTAP4-5 85289 . GRCh38 chr17 41149523 41149524 + In_Frame_Ins INS - - GGCAGCAGCTGGGGC rs58117746 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.244_245insGCCCCAGCTGCTGCC p.Cys81_Gln82insArgProSerCysCys p.C81_Q82insRPSCC ENST00000343246 1/1 NA NA NA NA NA NA KRTAP4-5,inframe_insertion,p.Cys81_Gln82insArgProSerCysCys,ENST00000343246,NM_033188.4;,regulatory_region_variant,,ENSR00001009528,; GGCAGCAGCTGGGGC ENSG00000198271 ENST00000343246 Transcript inframe_insertion 302-303/902 244-245/546 82/181 Q/RPSCCQ cag/cGCCCCAGCTGCTGCCag rs58117746 1 NA -1 KRTAP4-5 HGNC HGNC:18899 protein_coding YES CCDS32650.1 ENSP00000340546 Q9BYR2.122 UPI0000456AA3 NM_033188.4 1/1 PANTHER:PTHR23262,PANTHER:PTHR23262:SF71,Low_complexity_(Seg):seg NA 0.5401 0.4236 NA 0.3065 0.3897 0.4192 NA NA NA NA NA NA MODERATE 1 insertion NA NA NA NA . CTG . 9269.06 NA NA NA NA NA NA NA NA NA 41149523 KRTAP9-1 728318 . GRCh38 chr17 41190343 41190344 + In_Frame_Ins INS - - GCTGTGGGTCCAGCTGCTGCCAGCCTA rs11283848 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.483_484insAGCTGTGGGTCCAGCTGCTGCCAGCCT p.Pro161_Cys162insSerCysGlySerSerCysCysGlnPro p.P161_C162insSCGSSCCQP ENST00000398470 1/1 NA NA NA NA NA NA KRTAP9-1,inframe_insertion,p.Pro161_Cys162insSerCysGlySerSerCysCysGlnPro,ENST00000398470,NM_001190460.1;KRTAP9-1,inframe_insertion,,ENST00000635603,;KRTAP9-1,inframe_insertion,p.Pro78_Pro79insSerCysGlySerSerCysCysGlnPro,ENST00000634235,;KRTAP9-1,intron_variant,,ENST00000634358,;KRTAP4-17P,upstream_gene_variant,,ENST00000508151,; GCTGTGGGTCCAGCTGCTGCCAGCCTA ENSG00000240542 ENST00000398470 Transcript inframe_insertion 457-458/753 457-458/753 153/250 C/CCGSSCCQPS tgc/tGCTGTGGGTCCAGCTGCTGCCAGCCTAgc rs11283848,COSV59165010 1 NA 1 KRTAP9-1 HGNC HGNC:18912 protein_coding YES CCDS56029.1 ENSP00000381488 A8MXZ3.83 UPI0000E59F6A NM_001190460.1 1/1 Pfam:PF13885,PANTHER:PTHR23262,PANTHER:PTHR23262:SF191,Low_complexity_(Seg):seg NA 0.9402 0.889 NA 0.8512 0.8698 0.9714 NA NA 0,1 NA NA NA NA MODERATE 1 insertion NA 26 0,1 NA NA . CTG . 17882.08 NA NA NA NA NA NA NA NA NA 41190343 KRTAP9-9 81870 . GRCh38 chr17 41255418 41255419 + In_Frame_Ins INS - - ACCTGCTGCAGGACC rs58108918 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.42_56dup p.Cys14_Cys18dup p.C14_C18dup ENST00000394008 1/1 NA NA NA NA NA NA KRTAP9-9,inframe_insertion,p.Cys14_Cys18dup,ENST00000394008,NM_030975.2;KRTAP9-4,downstream_gene_variant,,ENST00000334109,NM_033191.3; ACCTGCTGCAGGACC ENSG00000198083 ENST00000394008 Transcript inframe_insertion 35-36/981 33-34/510 11-12/169 -/TCCRT -/ACCTGCTGCAGGACC rs58108918 1 NA 1 KRTAP9-9 HGNC HGNC:16773 protein_coding YES CCDS54127.1 ENSP00000377576 Q9BYP9.122 UPI00002264BA NM_030975.2 1/1 Pfam:PF13885,PANTHER:PTHR23262,PANTHER:PTHR23262:SF133,Low_complexity_(Seg):seg NA 0.298 0.647 NA 0.4196 0.5805 0.6524 NA NA NA NA NA NA MODERATE 1 insertion NA 23 NA NA . CTA . 3878.06 NA NA NA NA NA NA NA NA NA 41255418 KRTAP17-1 83902 . GRCh38 chr17 41315517 41315517 + Frame_Shift_Del DEL C C - novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.134del p.Gly45AlafsTer69 p.G45Afs*69 ENST00000334202 1/1 NA NA NA NA NA NA KRTAP17-1,frameshift_variant,p.Gly45AlafsTer69,ENST00000334202,NM_031964.2; - ENSG00000186860 ENST00000334202 Transcript frameshift_variant 194/799 134/318 45/105 G/X gGc/gc 1 NA -1 KRTAP17-1 HGNC HGNC:18917 protein_coding YES CCDS11387.1 ENSP00000333993 Q9BYP8.112 UPI000006D50E NM_031964.2 1/1 Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion NA NA NA NA . AGCC . 2174.6 NA NA NA NA NA NA NA NA NA 41315516 STAT5A 6776 . GRCh38 chr17 42308315 42308315 + Missense_Mutation SNP T T C novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2044T>C p.Tyr682His p.Y682H ENST00000345506 17/20 NA NA NA NA NA NA STAT5A,missense_variant,p.Tyr682His,ENST00000345506,NM_003152.3;STAT5A,missense_variant,p.Tyr682His,ENST00000677301,;STAT5A,missense_variant,p.Tyr680His,ENST00000677893,;STAT5A,missense_variant,p.Tyr682His,ENST00000676585,;STAT5A,missense_variant,p.Tyr665His,ENST00000678903,;STAT5A,missense_variant,p.Tyr546His,ENST00000590726,;STAT5A,missense_variant,p.Tyr651His,ENST00000588868,NM_001288720.1;STAT5A,missense_variant,p.Tyr682His,ENST00000676631,;STAT5A,missense_variant,p.Tyr682His,ENST00000590949,NM_001288718.1;STAT5A,missense_variant,p.Tyr652His,ENST00000546010,NM_001288719.1;STAT5A,non_coding_transcript_exon_variant,,ENST00000587646,;STAT5A,non_coding_transcript_exon_variant,,ENST00000591556,;STAT5A,non_coding_transcript_exon_variant,,ENST00000468096,;STAT5A,downstream_gene_variant,,ENST00000479417,; C ENSG00000126561 ENST00000345506 Transcript missense_variant 2686/4301 2044/2385 682/794 Y/H Tac/Cac 1 NA 1 STAT5A HGNC HGNC:11366 protein_coding YES CCDS11424.1 ENSP00000341208 P42229.202 A0A384N5W4.11 UPI0000136075 NM_003152.3 deleterious(0.01) benign(0.066) 17/20 Gene3D:3.30.505.10,PROSITE_profiles:PS50001,PANTHER:PTHR11801,PANTHER:PTHR11801:SF47,SMART:SM00252,Superfamily:SSF55550,CDD:cd10421 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . GTA . 963.6 NA NA NA NA NA NA NA NA NA 42308315 STAT3 6774 . GRCh38 chr17 42333696 42333696 + Silent SNP G G A rs539947939 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1026C>T p.Gly342= p.G342= ENST00000677421 10/23 NA NA NA NA NA NA STAT3,synonymous_variant,p.Gly342=,ENST00000678906,;STAT3,synonymous_variant,p.Gly342=,ENST00000264657,NM_001369512.1,NM_001369513.1,NM_139276.3;STAT3,synonymous_variant,p.Gly342=,ENST00000678044,;STAT3,synonymous_variant,p.Gly342=,ENST00000678960,;STAT3,synonymous_variant,p.Gly342=,ENST00000677421,;STAT3,synonymous_variant,p.Gly342=,ENST00000679014,;STAT3,synonymous_variant,p.Gly342=,ENST00000678792,;STAT3,synonymous_variant,p.Gly342=,ENST00000678913,;STAT3,synonymous_variant,p.Gly342=,ENST00000678043,;STAT3,synonymous_variant,p.Gly342=,ENST00000677723,NM_003150.4,NM_001369514.1,NM_001369516.1;STAT3,synonymous_variant,p.Gly342=,ENST00000677442,;STAT3,synonymous_variant,p.Gly342=,ENST00000677030,NM_001369518.1,NM_213662.2;STAT3,synonymous_variant,p.Gly342=,ENST00000678827,NM_001369517.1;STAT3,synonymous_variant,p.Gly342=,ENST00000679185,NM_001369520.1;STAT3,synonymous_variant,p.Gly342=,ENST00000678905,;STAT3,synonymous_variant,p.Gly342=,ENST00000679166,;STAT3,synonymous_variant,p.Gly342=,ENST00000678048,;STAT3,synonymous_variant,p.Gly342=,ENST00000678572,;STAT3,synonymous_variant,p.Gly342=,ENST00000677479,NM_001369519.1;STAT3,synonymous_variant,p.Gly310=,ENST00000678674,;STAT3,synonymous_variant,p.Gly342=,ENST00000677152,;STAT3,synonymous_variant,p.Gly342=,ENST00000585517,;STAT3,synonymous_variant,p.Gly342=,ENST00000677603,;STAT3,synonymous_variant,p.Gly342=,ENST00000678535,;STAT3,synonymous_variant,p.Gly342=,ENST00000677002,;STAT3,synonymous_variant,p.Gly342=,ENST00000588969,;STAT3,synonymous_variant,p.Gly342=,ENST00000404395,;STAT3,synonymous_variant,p.Gly244=,ENST00000389272,;STAT3,synonymous_variant,p.Gly342=,ENST00000678445,;STAT3,synonymous_variant,p.Gly342=,ENST00000677820,;STAT3,synonymous_variant,p.Gly342=,ENST00000676636,;STAT3,synonymous_variant,p.Gly342=,ENST00000677271,;STAT3,synonymous_variant,p.Gly342=,ENST00000677308,;STAT3,non_coding_transcript_exon_variant,,ENST00000678764,;STAT3,non_coding_transcript_exon_variant,,ENST00000679231,;STAT3,non_coding_transcript_exon_variant,,ENST00000677763,;STAT3,non_coding_transcript_exon_variant,,ENST00000678659,;STAT3,non_coding_transcript_exon_variant,,ENST00000678529,;STAT3,non_coding_transcript_exon_variant,,ENST00000678108,;STAT3,upstream_gene_variant,,ENST00000478276,; A ENSG00000168610 ENST00000677421 Transcript synonymous_variant 1204/4911 1026/2409 342/802 G ggC/ggT rs539947939 1 NA -1 STAT3 HGNC HGNC:11364 protein_coding YES ENSP00000503599 UPI000D0C85AD 10/23 Gene3D:2.60.40.630,Pfam:PF02864,PANTHER:PTHR11801,PANTHER:PTHR11801:SF2,Superfamily:SSF49417,CDD:cd16847 2e-04 8e-04 NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV NA NA NA 1 . CGC . 115.6 1.193e-05 0.000123 NA NA NA NA 8.795e-06 NA NA 42333696 WNK4 65266 . GRCh38 chr17 42787851 42787852 + Frame_Shift_Ins INS - - G rs762079039 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1822dup p.Val608GlyfsTer7 p.V608Gfs*7 ENST00000246914 8/19 NA NA NA NA NA NA WNK4,frameshift_variant,p.Val608GlyfsTer7,ENST00000246914,NM_032387.5,NM_001321299.2;WNK4,intron_variant,,ENST00000587705,;WNK4,3_prime_UTR_variant,,ENST00000591448,;WNK4,intron_variant,,ENST00000592072,;WNK4,downstream_gene_variant,,ENST00000592669,; G ENSG00000126562 ENST00000246914 Transcript frameshift_variant 1904-1905/4199 1815-1816/3732 605-606/1243 -/X -/G rs762079039 1 NA 1 WNK4 HGNC HGNC:14544 protein_coding YES CCDS11439.1 ENSP00000246914 Q96J92.172 UPI000006FC0F NM_032387.5,NM_001321299.2 8/19 PANTHER:PTHR13902,PANTHER:PTHR13902:SF114,Superfamily:SSF56112 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 insertion 1 7 NA 1 . CTG . 2702.64 3.661e-05 6.549e-05 NA NA 5.453e-05 NA 6.305e-05 NA NA 42787851 UBTF 7343 . GRCh38 chr17 44209440 44209440 + Missense_Mutation SNP C C T rs765751452 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1817G>A p.Arg606His p.R606H ENST00000302904 17/21 NA NA NA NA NA NA UBTF,missense_variant,p.Arg606His,ENST00000302904,;UBTF,missense_variant,p.Arg606His,ENST00000436088,NM_014233.4;UBTF,missense_variant,p.Arg569His,ENST00000343638,NM_001076683.2;UBTF,missense_variant,p.Arg569His,ENST00000533177,;UBTF,missense_variant,p.Arg569His,ENST00000527034,;UBTF,missense_variant,p.Arg569His,ENST00000393606,NM_001076684.3;UBTF,missense_variant,p.Arg606His,ENST00000529383,;UBTF,missense_variant,p.Arg569His,ENST00000526094,;UBTF,missense_variant,p.Arg193His,ENST00000529373,;UBTF,downstream_gene_variant,,ENST00000530828,;AC004596.1,intron_variant,,ENST00000586560,;MIR6782,upstream_gene_variant,,ENST00000619539,;UBTF,non_coding_transcript_exon_variant,,ENST00000531368,;UBTF,downstream_gene_variant,,ENST00000529042,;UBTF,upstream_gene_variant,,ENST00000529947,;,regulatory_region_variant,,ENSR00000556512,; T ENSG00000108312 ENST00000302904 Transcript missense_variant 2310/4997 1817/2295 606/764 R/H cGc/cAc rs765751452 1 NA -1 UBTF HGNC HGNC:12511 protein_coding YES CCDS11480.1 ENSP00000302640 P17480.215 UPI000013797C deleterious(0.04) probably_damaging(0.993) 17/21 Gene3D:1.10.30.10,PROSITE_profiles:PS50118,PANTHER:PTHR46318,PANTHER:PTHR46318:SF4,SMART:SM00398,Superfamily:SSF47095,CDD:cd01390 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 2 NA NA 1 . GCG . 2769.6 7.956e-06 6.152e-05 NA NA NA NA NA NA 3.267e-05 44209440 UBTF 7343 . GRCh38 chr17 44211699 44211699 + Silent SNP G G A rs1184222757 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.954C>T p.Asp318= p.D318= ENST00000302904 10/21 NA NA NA NA NA NA UBTF,synonymous_variant,p.Asp318=,ENST00000302904,;UBTF,synonymous_variant,p.Asp318=,ENST00000436088,NM_014233.4;UBTF,synonymous_variant,p.Asp281=,ENST00000343638,NM_001076683.2;UBTF,synonymous_variant,p.Asp281=,ENST00000533177,;UBTF,synonymous_variant,p.Asp281=,ENST00000527034,;UBTF,synonymous_variant,p.Asp281=,ENST00000393606,NM_001076684.3;UBTF,synonymous_variant,p.Asp318=,ENST00000529383,;UBTF,synonymous_variant,p.Asp281=,ENST00000526094,;UBTF,upstream_gene_variant,,ENST00000529373,;UBTF,downstream_gene_variant,,ENST00000530828,;AC004596.1,intron_variant,,ENST00000586560,;MIR6782,upstream_gene_variant,,ENST00000619539,;UBTF,downstream_gene_variant,,ENST00000537550,;UBTF,downstream_gene_variant,,ENST00000529042,;UBTF,upstream_gene_variant,,ENST00000529947,;UBTF,upstream_gene_variant,,ENST00000531368,;,regulatory_region_variant,,ENSR00000556512,; A ENSG00000108312 ENST00000302904 Transcript synonymous_variant 1447/4997 954/2295 318/764 D gaC/gaT rs1184222757 1 NA -1 UBTF HGNC HGNC:12511 protein_coding YES CCDS11480.1 ENSP00000302640 P17480.215 UPI000013797C 10/21 Gene3D:1.10.30.10,Pfam:PF09011,PROSITE_profiles:PS50118,PANTHER:PTHR46318,PANTHER:PTHR46318:SF4,SMART:SM00398,Superfamily:SSF47095,CDD:cd01390 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 2 NA NA 1 . CGT . 3091.6 8.076e-06 NA 2.894e-05 NA NA NA 8.83e-06 NA NA 44211699 RUNDC3A 10900 . GRCh38 chr17 44314765 44314765 + Silent SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.489G>A p.Leu163= p.L163= ENST00000426726 5/11 NA NA NA NA NA NA RUNDC3A,synonymous_variant,p.Leu163=,ENST00000426726,NM_001144825.2;RUNDC3A,synonymous_variant,p.Leu163=,ENST00000225441,NM_006695.4;RUNDC3A,synonymous_variant,p.Leu158=,ENST00000590941,NM_001144826.1;SLC25A39,downstream_gene_variant,,ENST00000225308,NM_016016.3,NM_001321241.1;SLC25A39,downstream_gene_variant,,ENST00000377095,NM_001143780.3;SLC25A39,downstream_gene_variant,,ENST00000586016,NM_001366726.1;SLC25A39,downstream_gene_variant,,ENST00000590194,;RUNDC3A-AS1,intron_variant,,ENST00000588097,;RUNDC3A,non_coding_transcript_exon_variant,,ENST00000587483,;RUNDC3A,non_coding_transcript_exon_variant,,ENST00000590834,;RUNDC3A,non_coding_transcript_exon_variant,,ENST00000593079,;RUNDC3A,upstream_gene_variant,,ENST00000588564,;SLC25A39,downstream_gene_variant,,ENST00000591006,;SLC25A39,downstream_gene_variant,,ENST00000592372,; A ENSG00000108309 ENST00000426726 Transcript synonymous_variant 721/2005 489/1341 163/446 L ctG/ctA 1 NA 1 RUNDC3A HGNC HGNC:16984 protein_coding YES CCDS45698.1 ENSP00000410862 Q59EK9.115 UPI0000EE7B82 NM_001144825.2 5/11 Gene3D:1.20.58.900,Pfam:PF02759,PROSITE_profiles:PS50826,PANTHER:PTHR46251,PANTHER:PTHR46251:SF4,SMART:SM00593,Superfamily:SSF140741 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . TGC . 3589.6 NA NA NA NA NA NA NA NA NA 44314765 EFTUD2 9343 . GRCh38 chr17 44863729 44863729 + Missense_Mutation SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1339C>T p.Pro447Ser p.P447S ENST00000426333 15/28 NA NA NA NA NA NA EFTUD2,missense_variant,p.Pro447Ser,ENST00000426333,NM_004247.4;EFTUD2,missense_variant,p.Pro447Ser,ENST00000591382,NM_001258353.1;EFTUD2,missense_variant,p.Pro437Ser,ENST00000592576,NM_001258354.1;EFTUD2,missense_variant,p.Pro412Ser,ENST00000402521,NM_001142605.1;EFTUD2,non_coding_transcript_exon_variant,,ENST00000585616,;EFTUD2,non_coding_transcript_exon_variant,,ENST00000590367,;EFTUD2,non_coding_transcript_exon_variant,,ENST00000586654,;EFTUD2,non_coding_transcript_exon_variant,,ENST00000585794,;EFTUD2,non_coding_transcript_exon_variant,,ENST00000587914,;EFTUD2,upstream_gene_variant,,ENST00000586276,;EFTUD2,upstream_gene_variant,,ENST00000590977,;EFTUD2,downstream_gene_variant,,ENST00000591856,;,regulatory_region_variant,,ENSR00001010026,; A ENSG00000108883 ENST00000426333 Transcript missense_variant 1420/4326 1339/2919 447/972 P/S Ccc/Tcc 1 NA -1 EFTUD2 HGNC HGNC:30858 protein_coding YES CCDS11489.1 ENSP00000392094 Q15029.224 UPI0000137931 NM_004247.4 tolerated(0.76) benign(0) 15/28 Gene3D:2.40.30.10,PDB-ENSP_mappings:3jcr.B,PDB-ENSP_mappings:5mqf.B,PDB-ENSP_mappings:5o9z.B,PDB-ENSP_mappings:5xjc.C,PDB-ENSP_mappings:5yzg.C,PDB-ENSP_mappings:5z56.C,PDB-ENSP_mappings:5z57.C,PDB-ENSP_mappings:5z58.C,PDB-ENSP_mappings:6ah0.C,PDB-ENSP_mappings:6ahd.C,PDB-ENSP_mappings:6ff4.B,PDB-ENSP_mappings:6ff7.B,PDB-ENSP_mappings:6icz.C,PDB-ENSP_mappings:6id0.C,PDB-ENSP_mappings:6id1.C,PDB-ENSP_mappings:6qdv.C,PDB-ENSP_mappings:6qw6.5C,PDB-ENSP_mappings:6qx9.5C,PANTHER:PTHR42908,PANTHER:PTHR42908:SF6,Superfamily:SSF50447 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . GGC . 1845.6 NA NA NA NA NA NA NA NA NA 44863729 PLCD3 113026 . GRCh38 chr17 45115389 45115389 + Silent SNP G G A rs376940555 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1515C>T p.Asp505= p.D505= ENST00000619929 9/15 NA NA NA NA NA NA PLCD3,synonymous_variant,p.Asp505=,ENST00000619929,NM_133373.5;PLCD3,upstream_gene_variant,,ENST00000539433,;PLCD3,downstream_gene_variant,,ENST00000590644,;MIR6784,upstream_gene_variant,,ENST00000611997,;PLCD3,non_coding_transcript_exon_variant,,ENST00000611986,;PLCD3,downstream_gene_variant,,ENST00000538988,;PLCD3,upstream_gene_variant,,ENST00000543623,;PLCD3,upstream_gene_variant,,ENST00000615898,;PLCD3,downstream_gene_variant,,ENST00000542173,;PLCD3,downstream_gene_variant,,ENST00000546350,;PLCD3,upstream_gene_variant,,ENST00000618022,; A ENSG00000161714 ENST00000619929 Transcript synonymous_variant 1620/6132 1515/2370 505/789 D gaC/gaT rs376940555 1 NA -1 PLCD3 HGNC HGNC:9061 protein_coding YES CCDS74077.1 ENSP00000479636 Q8N3E9.171 UPI0000070705 NM_133373.5 9/15 Gene3D:3.20.20.190,Coiled-coils_(Ncoils):Coil,PANTHER:PTHR10336,PANTHER:PTHR10336:SF33,Superfamily:SSF51695,CDD:cd08630,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA 0.0001188 NA NA NA NA LOW 1 SNV 1 NA NA NA . CGT . 432.6 0.0001365 0.0001416 NA NA NA NA 0.0002739 0.0001723 NA 45115389 MAP3K14 0 . GRCh38 chr17 45290613 45290613 + Missense_Mutation SNP C C T rs373437304 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.133G>A p.Val45Met p.V45M ENST00000376926 1/15 NA NA NA NA NA NA MAP3K14,missense_variant,p.Val45Met,ENST00000376926,;MAP3K14,missense_variant,p.Val45Met,ENST00000344686,NM_003954.5;MAP3K14,missense_variant,p.Val45Met,ENST00000617331,; T ENSG00000006062 ENST00000376926 Transcript missense_variant 364/4583 133/2844 45/947 V/M Gtg/Atg rs373437304 1 NA -1 MAP3K14 HGNC HGNC:6853 protein_coding YES CCDS74079.1 ENSP00000482657 Q99558.198 UPI0000074220 tolerated_low_confidence(0.19) benign(0.362) 1/15 PIRSF:PIRSF038175,PANTHER:PTHR24361,PANTHER:PTHR24361:SF651 NA NA NA NA NA NA NA NA 0.0001196 uncertain_significance NA NA NA NA MODERATE 1 SNV 1 NA 1 NA 1 . ACG . 3157.6 8.022e-05 NA 0.0001448 0.0001987 0.0002225 NA 5.308e-05 NA 9.803e-05 45290613 CDC27 996 . GRCh38 chr17 47151887 47151888 + Frame_Shift_Del DEL TT TT - novel NA HCI-EC-23 NORMAL TT TT NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1006_1007del p.Lys336ValfsTer9 p.K336Vfs*9 ENST00000531206 9/19 NA NA NA NA NA NA CDC27,frameshift_variant,p.Lys330ValfsTer9,ENST00000066544,NM_001353049.2,NM_001293091.3,NM_001353035.2,NM_001256.6;CDC27,frameshift_variant,p.Lys336ValfsTer9,ENST00000531206,NM_001353050.2,NM_001114091.4;CDC27,frameshift_variant,p.Lys330ValfsTer9,ENST00000527547,NM_001353051.2,NM_001353047.2,NM_001293089.3;CDC27,non_coding_transcript_exon_variant,,ENST00000575830,;CDC27,3_prime_UTR_variant,,ENST00000533415,;CDC27,3_prime_UTR_variant,,ENST00000576484,;CDC27,3_prime_UTR_variant,,ENST00000574304,;CDC27,non_coding_transcript_exon_variant,,ENST00000525495,;CDC27,intron_variant,,ENST00000526866,;CDC27,downstream_gene_variant,,ENST00000570818,;CDC27,downstream_gene_variant,,ENST00000573550,; - ENSG00000004897 ENST00000531206 Transcript frameshift_variant 1010-1011/3177 1006-1007/2493 336/830 K/X AAg/g 1 NA -1 CDC27 HGNC HGNC:1728 protein_coding YES CCDS45720.1 ENSP00000434614 P30260.210 UPI0000E59FE6 NM_001353050.2,NM_001114091.4 9/19 PANTHER:PTHR12558,PANTHER:PTHR12558:SF13,Superfamily:SSF48452 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 NA NA NA . ACTTT . 2877.6 NA NA NA NA NA NA NA NA NA 47151886 HOXB1 3211 . GRCh38 chr17 48530822 48530823 + In_Frame_Ins INS - - GGGCGCTGT rs534792734 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.74_82dup p.His25_Ala27dup p.H25_A27dup ENST00000239174 1/2 NA NA NA NA NA NA HOXB1,inframe_insertion,p.His25_Ala27dup,ENST00000239174,NM_002144.4;HOXB1,inframe_insertion,p.His25_Ala27dup,ENST00000577092,; GGGCGCTGT ENSG00000120094 ENST00000239174 Transcript inframe_insertion 189-190/2034 82-83/906 28/301 P/HSAP cca/cACAGCGCCCca rs534792734,COSV53316513 1 NA -1 HOXB1 HGNC HGNC:5111 protein_coding YES CCDS32675.1 ENSP00000355140 P14653.198 UPI0000163BFF NM_002144.4 1/2 PANTHER:PTHR45946,PANTHER:PTHR45946:SF5,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite NA 0.1157 0.1225 NA 0.0982 0.2008 0.1309 0.1239 0.2042 0,1 NA NA NA NA MODERATE 1 insertion 1 NA 0,1 NA 1 . TGG . 5109.64 NA NA NA NA NA NA NA NA NA 48530822 NXPH3 11248 . GRCh38 chr17 49578743 49578743 + Silent SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.202C>T p.Leu68= p.L68= ENST00000513748 2/3 NA NA NA NA NA NA NXPH3,synonymous_variant,p.Leu68=,ENST00000328741,NM_007225.4;NXPH3,synonymous_variant,p.Leu68=,ENST00000513748,;AC006487.2,upstream_gene_variant,,ENST00000503624,;AC006487.1,upstream_gene_variant,,ENST00000514506,;NXPH3,non_coding_transcript_exon_variant,,ENST00000570453,; T ENSG00000182575 ENST00000513748 Transcript synonymous_variant 300/1530 202/1065 68/354 L Ctg/Ttg 1 NA 1 NXPH3 HGNC HGNC:8077 protein_coding YES ENSP00000421168 D6RGW2.56 UPI0001892066 2/3 Pfam:PF06312,PANTHER:PTHR17103,PANTHER:PTHR17103:SF14 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . GCT . 5364.6 NA NA NA NA NA NA NA NA NA 49578743 XYLT2 64132 . GRCh38 chr17 50356606 50356606 + Frame_Shift_Del DEL C C - rs779864368 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1584del p.Gly529AlafsTer78 p.G529Afs*78 ENST00000017003 8/11 NA NA NA NA NA NA XYLT2,frameshift_variant,p.Gly529AlafsTer78,ENST00000017003,NM_022167.4;XYLT2,frameshift_variant,p.Gly529AlafsTer78,ENST00000507602,;XYLT2,downstream_gene_variant,,ENST00000509778,;XYLT2,upstream_gene_variant,,ENST00000574840,;XYLT2,frameshift_variant,p.Gly529AlafsTer57,ENST00000376550,;XYLT2,frameshift_variant,p.Gly61AlafsTer73,ENST00000511654,;XYLT2,upstream_gene_variant,,ENST00000571021,; - ENSG00000015532 ENST00000017003 Transcript frameshift_variant 1593/3507 1578/2598 526/865 Y/X taC/ta rs779864368 1 NA 1 XYLT2 HGNC HGNC:15517 protein_coding YES CCDS11563.1 ENSP00000017003 Q9H1B5.148 UPI000013C536 NM_022167.4 8/11 Pfam:PF12529,PANTHER:PTHR46025,PANTHER:PTHR46025:SF1 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 6 NA 1 . TACC . 4801.6 7.974e-06 NA NA NA NA NA 1.766e-05 NA NA 50356605 WFIKKN2 124857 . GRCh38 chr17 50839663 50839663 + Silent SNP C C A NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.375C>A p.Ile125= p.I125= ENST00000311378 2/2 NA NA NA NA NA NA WFIKKN2,synonymous_variant,p.Ile125=,ENST00000311378,NM_175575.6;WFIKKN2,synonymous_variant,p.Ile32=,ENST00000426127,NM_001330341.2;AC091062.1,downstream_gene_variant,,ENST00000572491,; A ENSG00000173714 ENST00000311378 Transcript synonymous_variant 727/3417 375/1731 125/576 I atC/atA COSV60957776 1 NA 1 WFIKKN2 HGNC HGNC:30916 protein_coding YES CCDS11575.1 ENSP00000311184 Q8TEU8.139 UPI000004139B NM_175575.6 2/2 Gene3D:3.30.60.30,PANTHER:PTHR45938,PANTHER:PTHR45938:SF7,Superfamily:SSF100895 NA NA NA NA NA NA NA NA NA 1 NA NA NA NA LOW 1 SNV 1 NA 1 NA NA . TCT . 5234.6 NA NA NA NA NA NA NA NA NA 50839663 VEZF1 7716 . GRCh38 chr17 57979243 57979244 + In_Frame_Ins INS - - TGC rs57786397 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1044_1046dup p.Gln354dup p.Q354dup ENST00000581208 5/6 NA NA NA NA NA NA VEZF1,inframe_insertion,p.Gln354dup,ENST00000581208,NM_007146.3;VEZF1,inframe_insertion,p.Gln173dup,ENST00000258963,;VEZF1,inframe_insertion,p.Gln345dup,ENST00000584396,NM_001330393.2;VEZF1,downstream_gene_variant,,ENST00000583932,; TGC ENSG00000136451 ENST00000581208 Transcript inframe_insertion 1189-1190/4630 1046-1047/1566 349/521 Q/QQ caa/caGCAa rs57786397,COSV51968485 1 NA -1 VEZF1 HGNC HGNC:12949 protein_coding YES CCDS32687.1 ENSP00000462337 Q14119.179 UPI000013D01B NM_007146.3 5/6 Coiled-coils_(Ncoils):Coil,PANTHER:PTHR24409,PANTHER:PTHR24409:SF361,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 insertion 1 NA 0,1 NA NA . GTT . 759.64 NA NA NA NA NA NA NA NA NA 57979243 RNF43 54894 . GRCh38 chr17 58358667 58358667 + Frame_Shift_Del DEL G G - novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1109del p.Pro370HisfsTer49 p.P370Hfs*49 ENST00000584437 8/9 NA NA NA NA NA NA RNF43,frameshift_variant,p.Pro370HisfsTer49,ENST00000584437,;RNF43,frameshift_variant,p.Pro370HisfsTer49,ENST00000407977,NM_017763.6;RNF43,frameshift_variant,p.Pro370HisfsTer49,ENST00000577716,NM_001305544.2;RNF43,frameshift_variant,p.Pro329HisfsTer49,ENST00000583753,;RNF43,frameshift_variant,p.Pro243HisfsTer49,ENST00000581868,;RNF43,frameshift_variant,p.Pro243HisfsTer49,ENST00000577625,NM_001305545.1;TSPOAP1-AS1,intron_variant,,ENST00000583841,;TSPOAP1-AS1,downstream_gene_variant,,ENST00000578025,;TSPOAP1-AS1,downstream_gene_variant,,ENST00000580022,;TSPOAP1-AS1,downstream_gene_variant,,ENST00000667382,;AC004687.2,frameshift_variant,p.Pro370HisfsTer49,ENST00000648873,;RNF43,downstream_gene_variant,,ENST00000582293,;,regulatory_region_variant,,ENSR00001011421,; - ENSG00000108375 ENST00000584437 Transcript frameshift_variant 3065/5575 1109/2352 370/783 P/X cCa/ca 1 NA -1 RNF43 HGNC HGNC:18505 protein_coding YES CCDS11607.1 ENSP00000463069 Q68DV7.150 UPI000022A469 8/9 PANTHER:PTHR16200,PANTHER:PTHR16200:SF2,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 NA NA 1 . GTGG . 867.6 NA NA NA NA NA NA NA NA NA 58358666 TANC2 26115 . GRCh38 chr17 63411656 63411656 + Missense_Mutation SNP T T A novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3513T>A p.Asp1171Glu p.D1171E ENST00000389520 20/26 NA NA NA NA NA NA TANC2,missense_variant,p.Asp1171Glu,ENST00000424789,NM_025185.4;TANC2,missense_variant,p.Asp1100Glu,ENST00000583356,;TANC2,missense_variant,p.Asp1171Glu,ENST00000389520,;AC005828.1,intron_variant,,ENST00000431604,;AC005828.3,intron_variant,,ENST00000583552,;AC005828.1,downstream_gene_variant,,ENST00000656935,;TANC2,upstream_gene_variant,,ENST00000579541,; A ENSG00000170921 ENST00000389520 Transcript missense_variant 3513/6404 3513/6003 1171/2000 D/E gaT/gaA 1 NA 1 TANC2 HGNC HGNC:30212 protein_coding YES ENSP00000374171 Q9HCD6.152 UPI000173AA39 deleterious(0.01) probably_damaging(0.996) 20/26 Gene3D:1.25.40.20,Pfam:PF00023,PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,PANTHER:PTHR24166,PANTHER:PTHR24166:SF21,SMART:SM00248,Superfamily:SSF48403 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . ATC . 3552.6 NA NA NA NA NA NA NA NA NA 63411656 TANC2 26115 . GRCh38 chr17 63421372 63421372 + Missense_Mutation SNP C C T rs747393102 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.5420C>T p.Pro1807Leu p.P1807L ENST00000389520 26/26 NA NA NA NA NA NA TANC2,missense_variant,p.Pro1797Leu,ENST00000424789,NM_025185.4;TANC2,missense_variant,p.Pro1807Leu,ENST00000389520,;TANC2,3_prime_UTR_variant,,ENST00000583356,;AC005828.3,intron_variant,,ENST00000583552,;,regulatory_region_variant,,ENSR00000561246,; T ENSG00000170921 ENST00000389520 Transcript missense_variant 5420/6404 5420/6003 1807/2000 P/L cCg/cTg rs747393102,COSV67340777 1 NA 1 TANC2 HGNC HGNC:30212 protein_coding YES ENSP00000374171 Q9HCD6.152 UPI000173AA39 tolerated_low_confidence(0.07) possibly_damaging(0.668) 26/26 PANTHER:PTHR24166,PANTHER:PTHR24166:SF21,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 5 NA 0,1 NA NA . CCG . 4546.6 1.206e-05 NA NA NA NA 9.289e-05 8.871e-06 NA NA 63421372 PECAM1 5175 . GRCh38 chr17 64350416 64350416 + Missense_Mutation SNP T T C rs1131012 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2008A>G p.Arg670Gly p.R670G ENST00000563924 12/16 NA NA NA NA NA NA PECAM1,missense_variant,p.Arg670Gly,ENST00000563924,NM_000442.5; C ENSG00000261371 ENST00000563924 Transcript missense_variant 2203/6813 2008/2217 670/738 R/G Aga/Gga rs1131012,CM096372 1 NA -1 PECAM1 HGNC HGNC:8823 protein_coding YES CCDS74132.1 ENSP00000457421 P16284.222 UPI0001EC962A NM_000442.5 tolerated(0.73) benign(0) 12/16 PANTHER:PTHR11481,PANTHER:PTHR11481:SF5 NA NA NA NA NA NA NA NA NA benign 25147926,23316245,23906684,25951190,22646485,19055786,19406964,21155722,25201689,27335627,22282500,20850712 NA NA NA NA MODERATE 1 SNV 1 NA 1,1 NA NA . CTG . 419.03 NA NA NA NA NA NA NA NA NA 64350416 PECAM1 5175 . GRCh38 chr17 64356203 64356203 + Missense_Mutation SNP C C T rs12953 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1688G>A p.Ser563Asn p.S563N ENST00000563924 8/16 NA NA NA NA NA NA PECAM1,missense_variant,p.Ser563Asn,ENST00000563924,NM_000442.5;,regulatory_region_variant,,ENSR00000561534,; T ENSG00000261371 ENST00000563924 Transcript missense_variant 1883/6813 1688/2217 563/738 S/N aGc/aAc rs12953 1 NA -1 PECAM1 HGNC HGNC:8823 protein_coding YES CCDS74132.1 ENSP00000457421 P16284.222 UPI0001EC962A NM_000442.5 tolerated(0.2) benign(0.361) 8/16 Gene3D:2.60.40.10,PROSITE_profiles:PS50835,PANTHER:PTHR11481,PANTHER:PTHR11481:SF5,SMART:SM00408,SMART:SM00409,Superfamily:SSF48726 NA NA NA NA NA NA NA NA NA 16820586,23316245,21966275,23906684,19055786,30526437,21929748,21155722,25201689,27335627,29071050,22282500,20850712 NA NA NA NA MODERATE 1 SNV 1 NA NA NA . GCT . 6885.03 NA NA NA NA NA NA NA NA NA 64356203 PECAM1 5175 . GRCh38 chr17 64360180 64360180 + Silent SNP A A G rs1131010 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1452T>C p.His484= p.H484= ENST00000563924 7/16 NA NA NA NA NA NA PECAM1,synonymous_variant,p.His484=,ENST00000563924,NM_000442.5;PECAM1,downstream_gene_variant,,ENST00000566422,;PECAM1,downstream_gene_variant,,ENST00000568702,; G ENSG00000261371 ENST00000563924 Transcript synonymous_variant 1647/6813 1452/2217 484/738 H caT/caC rs1131010 1 NA -1 PECAM1 HGNC HGNC:8823 protein_coding YES CCDS74132.1 ENSP00000457421 P16284.222 UPI0001EC962A NM_000442.5 7/16 Pfam:PF17736,PANTHER:PTHR11481,PANTHER:PTHR11481:SF5,SMART:SM00409,Superfamily:SSF48726 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . CAT . 3418.03 NA NA NA NA NA NA NA NA NA 64360180 APOH 350 . GRCh38 chr17 66220709 66220709 + Missense_Mutation SNP A A G novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.449T>C p.Phe150Ser p.F150S ENST00000205948 5/8 NA NA NA NA NA NA APOH,missense_variant,p.Phe150Ser,ENST00000205948,NM_000042.3;APOH,missense_variant,p.Phe90Ser,ENST00000581797,;APOH,missense_variant,p.Phe150Ser,ENST00000577982,;APOH,upstream_gene_variant,,ENST00000585162,; G ENSG00000091583 ENST00000205948 Transcript missense_variant 485/1174 449/1038 150/345 F/S tTt/tCt 1 NA -1 APOH HGNC HGNC:616 protein_coding YES CCDS11663.1 ENSP00000205948 P02749.221 A0A384NKM6.12 UPI0000125CAA NM_000042.3 deleterious(0.02) possibly_damaging(0.668) 5/8 PDB-ENSP_mappings:1c1z.A,PDB-ENSP_mappings:1qub.A,Gene3D:2.10.70.10,Pfam:PF00084,PROSITE_profiles:PS50923,PANTHER:PTHR19325,PANTHER:PTHR19325:SF323,SMART:SM00032,Superfamily:SSF57535 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . AAA . 506.6 NA NA NA NA NA NA NA NA NA 66220709 BPTF 2186 . GRCh38 chr17 67854270 67854270 + Missense_Mutation SNP A A T novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.944A>T p.Asn315Ile p.N315I ENST00000321892 2/30 NA NA NA NA NA NA BPTF,missense_variant,p.Asn315Ile,ENST00000321892,NM_004459.7;BPTF,missense_variant,p.Asn315Ile,ENST00000306378,NM_182641.4;BPTF,missense_variant,p.Asn176Ile,ENST00000644067,;BPTF,missense_variant,p.Asn176Ile,ENST00000342579,;BPTF,missense_variant,p.Asn176Ile,ENST00000424123,;BPTF,missense_variant,p.Asn315Ile,ENST00000544778,;BPTF,missense_variant,p.Asn176Ile,ENST00000335221,;,regulatory_region_variant,,ENSR00000562505,; T ENSG00000171634 ENST00000321892 Transcript missense_variant 1005/11292 944/9141 315/3046 N/I aAt/aTt 1 NA 1 BPTF HGNC HGNC:3581 protein_coding YES ENSP00000315454 Q12830.198 UPI0001838807 NM_004459.7 deleterious(0) probably_damaging(0.998) 2/30 PANTHER:PTHR45975 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA 1 . AAT . 2943.6 NA NA NA NA NA NA NA NA NA 67854270 BPTF 2186 . GRCh38 chr17 67940651 67940651 + Missense_Mutation SNP G G T novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.6850G>T p.Gly2284Cys p.G2284C ENST00000321892 21/30 NA NA NA NA NA NA BPTF,missense_variant,p.Gly2284Cys,ENST00000321892,NM_004459.7;BPTF,missense_variant,p.Gly2158Cys,ENST00000306378,NM_182641.4;BPTF,missense_variant,p.Gly2145Cys,ENST00000644067,;BPTF,missense_variant,p.Gly2145Cys,ENST00000342579,;BPTF,missense_variant,p.Gly2145Cys,ENST00000424123,;BPTF,missense_variant,p.Gly2221Cys,ENST00000544778,;BPTF,missense_variant,p.Gly31Cys,ENST00000580465,;BPTF,downstream_gene_variant,,ENST00000582467,;BPTF,non_coding_transcript_exon_variant,,ENST00000577770,;BPTF,upstream_gene_variant,,ENST00000582406,;BPTF,non_coding_transcript_exon_variant,,ENST00000584931,; T ENSG00000171634 ENST00000321892 Transcript missense_variant 6911/11292 6850/9141 2284/3046 G/C Ggc/Tgc 1 NA 1 BPTF HGNC HGNC:3581 protein_coding YES ENSP00000315454 Q12830.198 UPI0001838807 NM_004459.7 deleterious(0) probably_damaging(0.988) 21/30 PANTHER:PTHR45975 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA 1 . GGG . 2111.6 NA NA NA NA NA NA NA NA NA 67940651 WIPI1 55062 . GRCh38 chr17 68430125 68430125 + Missense_Mutation SNP A A G novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.836T>C p.Met279Thr p.M279T ENST00000262139 9/13 NA NA NA NA NA NA WIPI1,missense_variant,p.Met279Thr,ENST00000262139,NM_017983.7;WIPI1,missense_variant,p.Met197Thr,ENST00000546360,NM_001320772.1;WIPI1,missense_variant,p.Met47Thr,ENST00000591744,;WIPI1,upstream_gene_variant,,ENST00000585393,;AC007780.1,intron_variant,,ENST00000586515,;AC007780.1,intron_variant,,ENST00000590353,;AC007780.1,intron_variant,,ENST00000591567,;AC007780.1,downstream_gene_variant,,ENST00000592030,;WIPI1,non_coding_transcript_exon_variant,,ENST00000589459,;WIPI1,non_coding_transcript_exon_variant,,ENST00000591494,;WIPI1,downstream_gene_variant,,ENST00000586815,;WIPI1,synonymous_variant,p.His280=,ENST00000589316,;WIPI1,non_coding_transcript_exon_variant,,ENST00000587731,;WIPI1,upstream_gene_variant,,ENST00000590402,;WIPI1,upstream_gene_variant,,ENST00000592645,; G ENSG00000070540 ENST00000262139 Transcript missense_variant 911/1908 836/1341 279/446 M/T aTg/aCg 1 NA -1 WIPI1 HGNC HGNC:25471 protein_coding YES CCDS11677.1 ENSP00000262139 Q5MNZ9.150 UPI00001AE822 NM_017983.7 deleterious(0.02) benign(0.017) 9/13 Gene3D:2.130.10.10,PANTHER:PTHR11227,PANTHER:PTHR11227:SF23,Superfamily:SSF50978 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CAT . 3412.6 NA NA NA NA NA NA NA NA NA 68430125 SDK2 54549 . GRCh38 chr17 73415889 73415889 + Missense_Mutation SNP C C T rs772340490 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2290G>A p.Glu764Lys p.E764K ENST00000392650 17/45 NA NA NA NA NA NA SDK2,missense_variant,p.Glu764Lys,ENST00000392650,NM_001144952.2;SDK2,upstream_gene_variant,,ENST00000424778,;SDK2,non_coding_transcript_exon_variant,,ENST00000479356,; T ENSG00000069188 ENST00000392650 Transcript missense_variant 2647/11079 2290/6519 764/2172 E/K Gag/Aag rs772340490 1 NA -1 SDK2 HGNC HGNC:19308 protein_coding YES CCDS45769.1 ENSP00000376421 Q58EX2.147 UPI0000E5A088 NM_001144952.2 deleterious(0.01) probably_damaging(0.981) 17/45 Gene3D:2.60.40.10,Pfam:PF00041,PROSITE_profiles:PS50853,PANTHER:PTHR13817,PANTHER:PTHR13817:SF59,SMART:SM00060,Superfamily:SSF49265,CDD:cd00063 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . TCG . 3122.6 1.331e-05 NA 3.189e-05 NA NA NA 9.914e-06 NA 3.679e-05 73415889 SDK2 54549 . GRCh38 chr17 73437803 73437803 + Missense_Mutation SNP C C A NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.936G>T p.Lys312Asn p.K312N ENST00000392650 8/45 NA NA NA NA NA NA SDK2,missense_variant,p.Lys312Asn,ENST00000392650,NM_001144952.2;SDK2,upstream_gene_variant,,ENST00000479356,; A ENSG00000069188 ENST00000392650 Transcript missense_variant 1293/11079 936/6519 312/2172 K/N aaG/aaT COSV101167355,COSV101167935 1 NA -1 SDK2 HGNC HGNC:19308 protein_coding YES CCDS45769.1 ENSP00000376421 Q58EX2.147 UPI0000E5A088 NM_001144952.2 tolerated(0.35) benign(0.014) 8/45 Gene3D:2.60.40.10,Pfam:PF07679,PROSITE_profiles:PS50835,PANTHER:PTHR13817,PANTHER:PTHR13817:SF59,Superfamily:SSF48726,Superfamily:SSF48726 NA NA NA NA NA NA NA NA NA 1,1 NA NA NA NA MODERATE 1 SNV 5 NA 1,1 NA NA . CCT . 2943.6 NA NA NA NA NA NA NA NA NA 73437803 FADS6 283985 . GRCh38 chr17 74893498 74893515 + In_Frame_Del DEL GGTTCCATGGGCTCCGTA GGTTCCATGGGCTCCGTA - rs1266381884 NA HCI-EC-23 NORMAL GGTTCCATGGGCTCCGTA GGTTCCATGGGCTCCGTA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.81_98del p.Thr28_Pro33del p.T28_P33del ENST00000612771 1/6 NA NA NA NA NA NA FADS6,inframe_deletion,p.Thr28_Pro33del,ENST00000612771,NM_178128.6;FADS6,inframe_deletion,p.Thr10_Pro15del,ENST00000614223,;FADS6,inframe_deletion,p.Thr28_Pro33del,ENST00000621859,;,regulatory_region_variant,,ENSR00000564222,; - ENSG00000172782 ENST00000612771 Transcript inframe_deletion 119-136/2174 81-98/1107 27-33/368 PTEPMEP/P ccTACGGAGCCCATGGAACCg/ccg rs1266381884 1 NA -1 FADS6 HGNC HGNC:30459 protein_coding YES CCDS54163.2 ENSP00000481684 A0A087WYB9.35 UPI0001639CD9 NM_178128.6 1/6 PANTHER:PTHR19353,PANTHER:PTHR19353:SF13,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 sequence_alteration 1 NA NA NA . CCGGTTCCATGGGCTCCGTAG . 3956.06 NA NA NA NA NA NA NA NA NA 74893497 CASKIN2 57513 . GRCh38 chr17 75502628 75502628 + Missense_Mutation SNP C C T rs547029082 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2446G>A p.Glu816Lys p.E816K ENST00000321617 18/20 NA NA NA NA NA NA CASKIN2,missense_variant,p.Glu816Lys,ENST00000321617,NM_020753.5;CASKIN2,missense_variant,p.Glu734Lys,ENST00000433559,NM_001142643.3;TMEM94,downstream_gene_variant,,ENST00000314256,NM_001321149.2,NM_014738.6,NM_001351202.2;TMEM94,downstream_gene_variant,,ENST00000375248,NM_001321148.2,NM_001351203.2;TMEM94,downstream_gene_variant,,ENST00000577245,;TMEM94,downstream_gene_variant,,ENST00000577247,;TMEM94,downstream_gene_variant,,ENST00000579208,;CASKIN2,downstream_gene_variant,,ENST00000581870,;TMEM94,downstream_gene_variant,,ENST00000584694,;MIR6785,downstream_gene_variant,,ENST00000618984,;TMEM94,downstream_gene_variant,,ENST00000577194,;TMEM94,downstream_gene_variant,,ENST00000579898,;CASKIN2,downstream_gene_variant,,ENST00000580021,;TMEM94,downstream_gene_variant,,ENST00000581085,;TMEM94,downstream_gene_variant,,ENST00000581453,;CASKIN2,downstream_gene_variant,,ENST00000583246,;CASKIN2,downstream_gene_variant,,ENST00000583258,;TMEM94,downstream_gene_variant,,ENST00000585105,; T ENSG00000177303 ENST00000321617 Transcript missense_variant 2987/4969 2446/3609 816/1202 E/K Gaa/Aaa rs547029082 1 NA -1 CASKIN2 HGNC HGNC:18200 protein_coding YES CCDS11723.1 ENSP00000325355 Q8WXE0.157 UPI0000140BCB NM_020753.5 deleterious(0.03) benign(0.001) 18/20 Pfam:PF16907,PANTHER:PTHR24174,PANTHER:PTHR24174:SF7,MobiDB_lite:mobidb-lite 2e-04 NA NA NA 0.001 NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . TCG . 4410.6 4.284e-05 NA 5.993e-05 NA 0.0003408 NA 9.654e-06 NA 3.435e-05 75502628 MYO15B 80022 . GRCh38 chr17 75588194 75588194 + Missense_Mutation SNP A A C rs707710 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.137A>C p.Asp46Ala p.D46A ENST00000645453 1/64 NA NA NA NA NA NA MYO15B,missense_variant,p.Asp46Ala,ENST00000645453,NM_001309242.1;MYO15B,missense_variant,p.Asp46Ala,ENST00000610510,;MYO15B,upstream_gene_variant,,ENST00000578564,;MYO15B,upstream_gene_variant,,ENST00000582561,;MYO15B,missense_variant,p.Asp46Ala,ENST00000621743,;MYO15B,missense_variant,p.Asp46Ala,ENST00000619501,;MYO15B,missense_variant,p.Asp46Ala,ENST00000584516,;MYO15B,upstream_gene_variant,,ENST00000581612,;MYO15B,upstream_gene_variant,,ENST00000581866,;,regulatory_region_variant,,ENSR00000098410,;,regulatory_region_variant,,ENSR00000564441,;,TF_binding_site_variant,,ENSM00083955581,;,TF_binding_site_variant,,ENSM00524575488,; C ENSG00000266714 ENST00000645453 Transcript missense_variant 137/9704 137/9339 46/3112 D/A gAc/gCc rs707710 1 NA 1 MYO15B HGNC HGNC:14083 protein_coding YES ENSP00000495242 A0A2R8YFM0.12 UPI001088B15C NM_001309242.1 tolerated_low_confidence(0.41) benign(0.292) 1/64 MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite NA 0.0802 0.7363 NA 0.8462 0.7376 0.7515 NA NA NA NA NA NA MODERATE 1 SNV NA NA NA NA . GAC . 1605.03 NA NA NA NA NA NA NA NA NA 75588194 MYO15B 80022 . GRCh38 chr17 75590103 75590103 + Silent SNP C C G rs820241 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2046C>G p.Pro682= p.P682= ENST00000645453 1/64 NA NA NA NA NA NA MYO15B,synonymous_variant,p.Pro682=,ENST00000645453,NM_001309242.1;MYO15B,synonymous_variant,p.Pro682=,ENST00000610510,;MYO15B,upstream_gene_variant,,ENST00000578564,;MYO15B,upstream_gene_variant,,ENST00000582561,;MYO15B,synonymous_variant,p.Pro682=,ENST00000621743,;MYO15B,synonymous_variant,p.Pro682=,ENST00000619501,;MYO15B,synonymous_variant,p.Pro682=,ENST00000584516,;MYO15B,upstream_gene_variant,,ENST00000580701,;MYO15B,upstream_gene_variant,,ENST00000581612,;MYO15B,upstream_gene_variant,,ENST00000581866,;,regulatory_region_variant,,ENSR00000098410,; G ENSG00000266714 ENST00000645453 Transcript synonymous_variant 2046/9704 2046/9339 682/3112 P ccC/ccG rs820241 1 NA 1 MYO15B HGNC HGNC:14083 protein_coding YES ENSP00000495242 A0A2R8YFM0.12 UPI001088B15C NM_001309242.1 1/64 NA 0.0817 0.7363 NA 0.8462 0.7376 0.7536 NA NA NA NA NA NA LOW 1 SNV NA NA NA NA . CCG . 3904.03 NA NA NA NA NA NA NA NA NA 75590103 MYO15B 80022 . GRCh38 chr17 75616381 75616383 + In_Frame_Del DEL AGG AGG - rs368250560 NA HCI-EC-23 NORMAL AGG AGG NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.6256_6258del p.Glu2086del p.E2086del ENST00000645453 39/64 NA NA NA NA NA NA MYO15B,inframe_deletion,p.Glu2086del,ENST00000645453,NM_001309242.1;MYO15B,inframe_deletion,p.Glu2038del,ENST00000610510,;MYO15B,inframe_deletion,p.Glu1012del,ENST00000633867,;MYO15B,inframe_deletion,p.Glu574del,ENST00000642007,;MYO15B,upstream_gene_variant,,ENST00000578220,;MYO15B,upstream_gene_variant,,ENST00000583140,;MYO15B,3_prime_UTR_variant,,ENST00000584516,;MYO15B,3_prime_UTR_variant,,ENST00000584723,;MYO15B,non_coding_transcript_exon_variant,,ENST00000610429,;MYO15B,intron_variant,,ENST00000612587,;MYO15B,intron_variant,,ENST00000619501,;MYO15B,intron_variant,,ENST00000621743,;MYO15B,upstream_gene_variant,,ENST00000577296,;MYO15B,upstream_gene_variant,,ENST00000577342,;MYO15B,upstream_gene_variant,,ENST00000577613,;MYO15B,upstream_gene_variant,,ENST00000577785,;MYO15B,upstream_gene_variant,,ENST00000578005,;MYO15B,upstream_gene_variant,,ENST00000578300,;MYO15B,upstream_gene_variant,,ENST00000578960,;MYO15B,upstream_gene_variant,,ENST00000579048,;MYO15B,upstream_gene_variant,,ENST00000579052,;MYO15B,upstream_gene_variant,,ENST00000580096,;MYO15B,upstream_gene_variant,,ENST00000582597,;,regulatory_region_variant,,ENSR00000284493,; - ENSG00000266714 ENST00000645453 Transcript inframe_deletion 6224-6226/9704 6224-6226/9339 2075-2076/3112 QE/Q cAGGag/cag rs368250560 1 NA 1 MYO15B HGNC HGNC:14083 protein_coding YES ENSP00000495242 A0A2R8YFM0.12 UPI001088B15C NM_001309242.1 39/64 Coiled-coils_(Ncoils):Coil,PANTHER:PTHR22692,PANTHER:PTHR22692:SF16,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA 0.0174 0.0836 NA 0.0367 0.0467 0.0491 NA NA NA NA NA NA MODERATE 1 deletion NA 32 NA NA . GCAGGA . 3628.64 NA NA NA NA NA NA NA NA NA 75616380 UNC13D 201294 . GRCh38 chr17 75836079 75836079 + Missense_Mutation SNP C C T rs759754878 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1477G>A p.Gly493Ser p.G493S ENST00000412096 17/33 NA NA NA NA NA NA UNC13D,missense_variant,p.Gly493Ser,ENST00000207549,NM_199242.3;UNC13D,missense_variant,p.Gly493Ser,ENST00000412096,;UNC13D,missense_variant,p.Gly69Ser,ENST00000586147,;UNC13D,downstream_gene_variant,,ENST00000590762,;UNC13D,downstream_gene_variant,,ENST00000592386,;UNC13D,downstream_gene_variant,,ENST00000585574,;UNC13D,upstream_gene_variant,,ENST00000586930,;UNC13D,downstream_gene_variant,,ENST00000587504,;UNC13D,3_prime_UTR_variant,,ENST00000587105,;UNC13D,non_coding_transcript_exon_variant,,ENST00000591563,;UNC13D,downstream_gene_variant,,ENST00000587495,;UNC13D,upstream_gene_variant,,ENST00000591616,; T ENSG00000092929 ENST00000412096 Transcript missense_variant 1490/3648 1477/3429 493/1142 G/S Ggc/Agc rs759754878 1 NA -1 UNC13D HGNC HGNC:23147 protein_coding YES ENSP00000388093 Q70J99.140 UPI0001AE6705 tolerated(0.83) benign(0.001) 17/33 PANTHER:PTHR45999,PANTHER:PTHR45999:SF3 NA NA NA NA NA NA NA NA NA uncertain_significance NA NA NA NA MODERATE 1 SNV 2 NA 1 NA 1 . CCC . 6124.6 2.389e-05 NA NA NA NA NA 5.286e-05 NA NA 75836079 MRPL38 64978 . GRCh38 chr17 75898947 75898947 + Frame_Shift_Del DEL G G - novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1046del p.Pro349LeufsTer45 p.P349Lfs*45 ENST00000309352 9/9 NA NA NA NA NA NA MRPL38,frameshift_variant,p.Pro349LeufsTer45,ENST00000309352,NM_032478.4;TRIM65,upstream_gene_variant,,ENST00000269383,NM_001256124.2,NM_173547.4;TRIM65,upstream_gene_variant,,ENST00000540128,;TRIM65,upstream_gene_variant,,ENST00000543309,;AC087289.2,intron_variant,,ENST00000587267,;MRPL38,non_coding_transcript_exon_variant,,ENST00000480203,;MRPL38,downstream_gene_variant,,ENST00000477023,;MRPL38,downstream_gene_variant,,ENST00000585475,;MRPL38,downstream_gene_variant,,ENST00000588620,;TRIM65,upstream_gene_variant,,ENST00000648382,;AC087289.3,3_prime_UTR_variant,,ENST00000590947,;MRPL38,non_coding_transcript_exon_variant,,ENST00000486101,;MRPL38,downstream_gene_variant,,ENST00000461602,;MRPL38,downstream_gene_variant,,ENST00000464758,;MRPL38,downstream_gene_variant,,ENST00000471434,;MRPL38,downstream_gene_variant,,ENST00000474548,;MRPL38,downstream_gene_variant,,ENST00000477371,;MRPL38,downstream_gene_variant,,ENST00000477736,;MRPL38,downstream_gene_variant,,ENST00000483393,;MRPL38,downstream_gene_variant,,ENST00000493104,;MRPL38,downstream_gene_variant,,ENST00000493383,;MRPL38,downstream_gene_variant,,ENST00000494179,;TRIM65,upstream_gene_variant,,ENST00000540812,;AC087289.3,downstream_gene_variant,,ENST00000593156,; - ENSG00000204316 ENST00000309352 Transcript frameshift_variant 1055/1358 1046/1143 349/380 P/X cCt/ct 1 NA -1 MRPL38 HGNC HGNC:14033 protein_coding YES CCDS11733.2 ENSP00000308275 Q96DV4.147 UPI0000038D66 NM_032478.4 9/9 PDB-ENSP_mappings:3j7y.6,PDB-ENSP_mappings:3j9m.6,PDB-ENSP_mappings:5ool.6,PDB-ENSP_mappings:5oom.6,PDB-ENSP_mappings:6nu2.6,PDB-ENSP_mappings:6nu3.6,PANTHER:PTHR11362,PANTHER:PTHR11362:SF82 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 NA NA NA . AAGG . 3891.6 NA NA NA NA NA NA NA NA NA 75898946 QRICH2 84074 . GRCh38 chr17 76291720 76291720 + Missense_Mutation SNP A A G novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3007T>C p.Ser1003Pro p.S1003P ENST00000636395 4/19 NA NA NA NA NA NA QRICH2,missense_variant,p.Ser1003Pro,ENST00000636395,;QRICH2,missense_variant,p.Ser837Pro,ENST00000262765,NM_032134.2;QRICH2,upstream_gene_variant,,ENST00000447564,;QRICH2,intron_variant,,ENST00000524722,; G ENSG00000129646 ENST00000636395 Transcript missense_variant 3007/5677 3007/5490 1003/1829 S/P Tca/Cca 1 NA -1 QRICH2 HGNC HGNC:25326 protein_coding YES ENSP00000490761 A0A1B0GW36.15 UPI0007E52C6E tolerated(0.13) benign(0.149) 4/19 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . GAT . 2986.6 NA NA NA NA NA NA NA NA NA 76291720 RHBDF2 79651 . GRCh38 chr17 76471673 76471673 + Missense_Mutation SNP C C T rs373424100 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2531G>A p.Arg844His p.R844H ENST00000313080 19/19 NA NA NA NA NA NA RHBDF2,missense_variant,p.Arg815His,ENST00000591885,;RHBDF2,missense_variant,p.Arg844His,ENST00000313080,NM_024599.5;RHBDF2,missense_variant,p.Arg815His,ENST00000675367,NM_001005498.4,NM_001376230.1,NM_001376228.1,NM_001376229.1;AANAT,downstream_gene_variant,,ENST00000250615,NM_001166579.1;AANAT,downstream_gene_variant,,ENST00000392492,NM_001088.3;AANAT,downstream_gene_variant,,ENST00000585649,;RHBDF2,downstream_gene_variant,,ENST00000591860,;RHBDF2,non_coding_transcript_exon_variant,,ENST00000590168,;RHBDF2,downstream_gene_variant,,ENST00000587640,;AANAT,downstream_gene_variant,,ENST00000587798,;RHBDF2,downstream_gene_variant,,ENST00000589582,;RHBDF2,downstream_gene_variant,,ENST00000674875,; T ENSG00000129667 ENST00000313080 Transcript missense_variant 2805/3582 2531/2571 844/856 R/H cGc/cAc rs373424100 1 NA -1 RHBDF2 HGNC HGNC:20788 protein_coding YES CCDS32743.1 ENSP00000322775 Q6PJF5.133 UPI0000DBEF0D NM_024599.5 tolerated(0.12) benign(0) 19/19 PANTHER:PTHR45965,PANTHER:PTHR45965:SF2 NA NA NA NA NA NA NA 0.0002272 0.0001164 NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . GCG . 3105.6 4.57e-05 0.0001331 5.891e-05 NA 5.529e-05 NA 5.54e-05 NA NA 76471673 MFSD11 79157 . GRCh38 chr17 76741972 76741972 + Missense_Mutation SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.264G>A p.Met88Ile p.M88I ENST00000588460 4/13 NA NA NA NA NA NA MFSD11,missense_variant,p.Met88Ile,ENST00000588460,NM_001353018.1;MFSD11,missense_variant,p.Met88Ile,ENST00000586622,;MFSD11,missense_variant,p.Met88Ile,ENST00000621483,NM_001242534.2,NM_001353017.1;MFSD11,missense_variant,p.Met88Ile,ENST00000355954,NM_001242536.2;MFSD11,missense_variant,p.Met88Ile,ENST00000336509,NM_001353019.1,NM_001242535.2,NM_024311.4,NM_001242532.4;MFSD11,missense_variant,p.Met88Ile,ENST00000593181,NM_001242537.2;MFSD11,missense_variant,p.Met88Ile,ENST00000590514,NM_001242533.2;MFSD11,missense_variant,p.Met88Ile,ENST00000587661,;SRSF2,upstream_gene_variant,,ENST00000358156,;SRSF2,upstream_gene_variant,,ENST00000359995,NM_001195427.2;SRSF2,upstream_gene_variant,,ENST00000392485,NM_003016.4;SRSF2,upstream_gene_variant,,ENST00000508921,;SRSF2,upstream_gene_variant,,ENST00000583836,;MFSD11,downstream_gene_variant,,ENST00000586689,;AC005837.2,downstream_gene_variant,,ENST00000587459,;MFSD11,downstream_gene_variant,,ENST00000590393,;MFSD11,downstream_gene_variant,,ENST00000591864,;MFSD11,missense_variant,p.Met69Ile,ENST00000588768,;MFSD11,intron_variant,,ENST00000588031,;MFSD11,intron_variant,,ENST00000588670,;SRSF2,upstream_gene_variant,,ENST00000452355,;SRSF2,upstream_gene_variant,,ENST00000585202,;MFSD11,upstream_gene_variant,,ENST00000585584,; A ENSG00000092931 ENST00000588460 Transcript missense_variant 2306/3612 264/1350 88/449 M/I atG/atA 1 NA 1 MFSD11 HGNC HGNC:25458 protein_coding YES CCDS11750.1 ENSP00000464932 O43934.126 A0A024R8U7.38 UPI0000073F31 NM_001353018.1 tolerated(0.44) benign(0) 4/13 Gene3D:1.20.1250.20,Pfam:PF05978,PANTHER:PTHR23294,PANTHER:PTHR23294:SF28,Superfamily:SSF103473,CDD:cd17407 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE NA SNV 2 NA NA NA . TGT . 2329.6 NA NA NA NA NA NA NA NA NA 76741972 MGAT5B 146664 . GRCh38 chr17 76940428 76940428 + Silent SNP C C T rs754790688 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1638C>T p.Tyr546= p.Y546= ENST00000428789 12/16 NA NA NA NA NA NA MGAT5B,synonymous_variant,p.Tyr537=,ENST00000569840,NM_001199172.2;MGAT5B,synonymous_variant,p.Tyr535=,ENST00000301618,NM_144677.3;MGAT5B,synonymous_variant,p.Tyr546=,ENST00000428789,NM_198955.1;MGAT5B,upstream_gene_variant,,ENST00000563153,;MGAT5B,3_prime_UTR_variant,,ENST00000565043,;,regulatory_region_variant,,ENSR00000284545,;,regulatory_region_variant,,ENSR00001013741,; T ENSG00000167889 ENST00000428789 Transcript synonymous_variant 1741/4053 1638/2406 546/801 Y taC/taT rs754790688 1 NA 1 MGAT5B HGNC HGNC:24140 protein_coding YES CCDS45788.1 ENSP00000391227 Q3V5L5.123 UPI0000231C88 NM_198955.1 12/16 Pfam:PF15024,PANTHER:PTHR15075,PANTHER:PTHR15075:SF6 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . ACG . 1644.6 8.036e-06 NA NA NA 5.452e-05 NA NA 0.000165 NA 76940428 TNRC6C 57690 . GRCh38 chr17 78050049 78050049 + Silent SNP C C G novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1617C>G p.Gly539= p.G539= ENST00000636222 5/23 NA NA NA NA NA NA TNRC6C,synonymous_variant,p.Gly329=,ENST00000335749,NM_001142640.1;TNRC6C,synonymous_variant,p.Gly329=,ENST00000301624,NM_018996.3;TNRC6C,synonymous_variant,p.Gly329=,ENST00000588847,;TNRC6C,synonymous_variant,p.Gly329=,ENST00000588061,;TNRC6C,synonymous_variant,p.Gly539=,ENST00000636222,;TNRC6C,intron_variant,,ENST00000585438,;TNRC6C,downstream_gene_variant,,ENST00000588549,;TNRC6C,upstream_gene_variant,,ENST00000591851,; G ENSG00000078687 ENST00000636222 Transcript synonymous_variant 1683/7093 1617/5835 539/1944 G ggC/ggG 1 NA 1 TNRC6C HGNC HGNC:29318 protein_coding YES ENSP00000489933 A0A1B0GU24.30 UPI0007E52D52 5/23 PANTHER:PTHR13020,PANTHER:PTHR13020:SF9 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . GCC . 6050.6 NA NA NA NA NA NA NA NA NA 78050049 TNRC6C 57690 . GRCh38 chr17 78050899 78050899 + Frame_Shift_Del DEL A A - rs867658870 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2474del p.Asn825MetfsTer45 p.N825Mfs*45 ENST00000636222 5/23 NA NA NA NA NA NA TNRC6C,frameshift_variant,p.Asn615MetfsTer45,ENST00000335749,NM_001142640.1;TNRC6C,frameshift_variant,p.Asn615MetfsTer45,ENST00000301624,NM_018996.3;TNRC6C,frameshift_variant,p.Asn615MetfsTer45,ENST00000588847,;TNRC6C,frameshift_variant,p.Asn615MetfsTer45,ENST00000588061,;TNRC6C,frameshift_variant,p.Asn825MetfsTer45,ENST00000636222,;TNRC6C,intron_variant,,ENST00000585438,;TNRC6C,downstream_gene_variant,,ENST00000588549,;TNRC6C,upstream_gene_variant,,ENST00000591851,; - ENSG00000078687 ENST00000636222 Transcript frameshift_variant 2533/7093 2467/5835 823/1944 K/X Aaa/aa rs867658870,COSV56951956 1 NA 1 TNRC6C HGNC HGNC:29318 protein_coding YES ENSP00000489933 A0A1B0GU24.30 UPI0007E52D52 5/23 PANTHER:PTHR13020,PANTHER:PTHR13020:SF9,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA 0.002121 0.005292 0,1 NA NA NA NA HIGH 1 deletion 5 7 0,1 NA NA . GGAA . 3546.6 8.044e-06 NA NA NA NA NA 1.777e-05 NA NA 78050898 USP36 57602 . GRCh38 chr17 78818679 78818679 + Silent SNP C C T rs749227575 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1011G>A p.Gly337= p.G337= ENST00000542802 10/21 NA NA NA NA NA NA USP36,synonymous_variant,p.Gly337=,ENST00000542802,NM_001321291.1;USP36,synonymous_variant,p.Gly337=,ENST00000312010,;USP36,synonymous_variant,p.Gly337=,ENST00000449938,;USP36,synonymous_variant,p.Gly127=,ENST00000586066,;USP36,downstream_gene_variant,,ENST00000589424,;USP36,non_coding_transcript_exon_variant,,ENST00000588467,;USP36,synonymous_variant,p.Gly337=,ENST00000589225,;USP36,synonymous_variant,p.Gly337=,ENST00000588086,;USP36,non_coding_transcript_exon_variant,,ENST00000589254,;USP36,non_coding_transcript_exon_variant,,ENST00000590312,;,regulatory_region_variant,,ENSR00001013997,; T ENSG00000055483 ENST00000542802 Transcript synonymous_variant 1455/6063 1011/3372 337/1123 G ggG/ggA rs749227575 1 NA -1 USP36 HGNC HGNC:20062 protein_coding YES CCDS32755.1 ENSP00000441214 Q9P275.171 A0A024R8V6.57 UPI00000398BB NM_001321291.1 10/21 Gene3D:3.90.70.10,Pfam:PF00443,PROSITE_profiles:PS50235,PANTHER:PTHR24006,PANTHER:PTHR24006:SF653,Superfamily:SSF54001,CDD:cd02661 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . TCC . 4433.6 1.991e-05 NA 2.891e-05 NA NA NA 3.525e-05 NA NA 78818679 ENPP7 339221 . GRCh38 chr17 79735323 79735323 + Missense_Mutation SNP G G A rs781968600 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.680G>A p.Arg227Gln p.R227Q ENST00000328313 3/6 NA NA NA NA NA NA ENPP7,missense_variant,p.Arg227Gln,ENST00000328313,NM_178543.5;ENPP7,upstream_gene_variant,,ENST00000576512,; A ENSG00000182156 ENST00000328313 Transcript missense_variant 877/2016 680/1377 227/458 R/Q cGg/cAg rs781968600,COSV100093782,COSV60385122 1 NA 1 ENPP7 HGNC HGNC:23764 protein_coding YES CCDS11763.1 ENSP00000332656 Q6UWV6.142 UPI000019219F NM_178543.5 tolerated(0.17) benign(0.144) 3/6 Gene3D:3.40.720.10,Pfam:PF01663,PANTHER:PTHR10151,PANTHER:PTHR10151:SF63,Superfamily:SSF53649,CDD:cd16018 NA NA NA NA NA NA NA NA NA 0,1,1 NA NA NA NA MODERATE 1 SNV 1 NA 0,1,1 NA NA . CGG . 5952.6 2.794e-05 NA NA NA 5.447e-05 NA 2.651e-05 NA 9.801e-05 79735323 GAA 2548 . GRCh38 chr17 80105119 80105119 + Missense_Mutation SNP G G A rs762267535 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.533G>A p.Arg178His p.R178H ENST00000302262 2/20 NA NA NA NA NA NA GAA,missense_variant,p.Arg178His,ENST00000302262,NM_000152.5,NM_001079804.3;GAA,missense_variant,p.Arg178His,ENST00000390015,NM_001079803.3;GAA,missense_variant,p.Arg178His,ENST00000570803,;GAA,missense_variant,p.Arg178His,ENST00000577106,;CCDC40,downstream_gene_variant,,ENST00000397545,NM_017950.4;GAA,downstream_gene_variant,,ENST00000574376,;CCDC40,downstream_gene_variant,,ENST00000574799,; A ENSG00000171298 ENST00000302262 Transcript missense_variant 875/3751 533/2859 178/952 R/H cGc/cAc rs762267535,CM110561,COSV100163068 1 NA 1 GAA HGNC HGNC:4065 protein_coding YES CCDS32760.1 ENSP00000305692 P10253.226 UPI00000744FF NM_000152.5,NM_001079804.3 deleterious(0.01) probably_damaging(0.98) 2/20 Gene3D:2.60.40.1760,PDB-ENSP_mappings:5kzw.A,PDB-ENSP_mappings:5kzx.A,PDB-ENSP_mappings:5nn3.A,PDB-ENSP_mappings:5nn4.A,PDB-ENSP_mappings:5nn5.A,PDB-ENSP_mappings:5nn6.A,PDB-ENSP_mappings:5nn8.A,Pfam:PF16863,PANTHER:PTHR22762,PANTHER:PTHR22762:SF92,Superfamily:SSF74650 NA NA NA NA NA NA NA NA NA uncertain_significance 0,0,1 NA NA NA NA MODERATE 1 SNV 1 NA 1,1,1 NA 1 . CGC . 2493.6 1.675e-05 NA NA NA NA NA 3.74e-05 NA NA 80105119 RNF213 57674 . GRCh38 chr17 80332199 80332199 + Nonsense_Mutation SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3858G>A p.Trp1286Ter p.W1286* ENST00000508628 22/69 NA NA NA NA NA NA RNF213,stop_gained,p.Trp1237Ter,ENST00000582970,NM_001256071.3;RNF213,stop_gained,p.Trp1286Ter,ENST00000508628,;AC124319.2,downstream_gene_variant,,ENST00000616832,;RNF213,non_coding_transcript_exon_variant,,ENST00000559070,; A ENSG00000173821 ENST00000508628 Transcript stop_gained 4003/17730 3858/15771 1286/5256 W/* tgG/tgA 1 NA 1 RNF213 HGNC HGNC:14539 protein_coding YES ENSP00000425956 A0A0A0MTC1.48 UPI0003EAEE91 22/69 PANTHER:PTHR22605,PANTHER:PTHR22605:SF18 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 SNV 5 NA NA 1 . GGC . 3762.6 NA NA NA NA NA NA NA NA NA 80332199 RNF213 57674 . GRCh38 chr17 80348014 80348014 + Missense_Mutation SNP G G A rs776295572 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.9826G>A p.Ala3276Thr p.A3276T ENST00000508628 30/69 NA NA NA NA NA NA RNF213,missense_variant,p.Ala3227Thr,ENST00000582970,NM_001256071.3;RNF213,missense_variant,p.Ala3276Thr,ENST00000508628,;RNF213-AS1,downstream_gene_variant,,ENST00000575034,;RNF213-AS1,downstream_gene_variant,,ENST00000613190,; A ENSG00000173821 ENST00000508628 Transcript missense_variant 9971/17730 9826/15771 3276/5256 A/T Gcg/Acg rs776295572,COSV60398247 1 NA 1 RNF213 HGNC HGNC:14539 protein_coding YES ENSP00000425956 A0A0A0MTC1.48 UPI0003EAEE91 deleterious(0) probably_damaging(0.994) 30/69 PANTHER:PTHR22605,PANTHER:PTHR22605:SF18 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE NA SNV 5 NA 0,1 NA 1 . CGC . 8309.6 7.962e-06 NA NA NA NA NA 1.761e-05 NA NA 80348014 RNF213 57674 . GRCh38 chr17 80368025 80368025 + Missense_Mutation SNP G G A rs397514563 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.12184G>A p.Asp4062Asn p.D4062N ENST00000508628 45/69 NA NA NA NA NA NA RNF213,missense_variant,p.Asp4013Asn,ENST00000582970,NM_001256071.3;RNF213,missense_variant,p.Asp4062Asn,ENST00000508628,;RNF213-AS1,intron_variant,,ENST00000572151,;RNF213-AS1,intron_variant,,ENST00000575034,;RNF213-AS1,intron_variant,,ENST00000667202,;RNF213,non_coding_transcript_exon_variant,,ENST00000558116,;RNF213,upstream_gene_variant,,ENST00000411702,;RNF213,downstream_gene_variant,,ENST00000558488,;RNF213,downstream_gene_variant,,ENST00000559603,; A ENSG00000173821 ENST00000508628 Transcript missense_variant 12329/17730 12184/15771 4062/5256 D/N Gac/Aac rs397514563,CM1111820,COSV100300800 1 NA 1 RNF213 HGNC HGNC:14539 protein_coding YES ENSP00000425956 A0A0A0MTC1.48 UPI0003EAEE91 tolerated(0.34) probably_damaging(0.985) 45/69 Gene3D:3.30.40.10,Pfam:PF00097,PROSITE_profiles:PS50089,PANTHER:PTHR22605,PANTHER:PTHR22605:SF18,SMART:SM00184,Superfamily:SSF57850,CDD:cd16561 NA NA NA NA NA NA NA NA NA likely_pathogenic,_risk_factor 0,0,1 21799892,25278557,29165161,27253870,26846756,31590595 NA NA NA NA MODERATE NA SNV 5 NA 1,1,1 NA 1 . CGA . 6486.6 7.954e-06 NA NA NA NA NA 8.793e-06 NA 3.266e-05 80368025 FSCN2 25794 . GRCh38 chr17 81536190 81536190 + Missense_Mutation SNP T T A novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1028T>A p.Val343Glu p.V343E ENST00000334850 3/5 NA NA NA NA NA NA FSCN2,missense_variant,p.Val343Glu,ENST00000417245,NM_012418.4;FSCN2,missense_variant,p.Val343Glu,ENST00000334850,NM_001077182.3;FAAP100,downstream_gene_variant,,ENST00000327787,NM_025161.6;FAAP100,downstream_gene_variant,,ENST00000425898,;FSCN2,non_coding_transcript_exon_variant,,ENST00000527221,;FAAP100,downstream_gene_variant,,ENST00000443656,;,regulatory_region_variant,,ENSR00000566602,; A ENSG00000186765 ENST00000334850 Transcript missense_variant 1028/1551 1028/1551 343/516 V/E gTa/gAa 1 NA 1 FSCN2 HGNC HGNC:3960 protein_coding YES CCDS45810.1 ENSP00000334665 O14926.157 UPI0000E5925D NM_001077182.3 deleterious(0) probably_damaging(0.958) 3/5 Gene3D:2.80.10.50,Pfam:PF06268,PIRSF:PIRSF005682,PANTHER:PTHR10551,PANTHER:PTHR10551:SF24,Superfamily:SSF50405,CDD:cd00257 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE NA SNV 5 NA NA 1 . GTA . 3461.6 NA NA NA NA NA NA NA NA NA 81536190 TSPAN10 83882 . GRCh38 chr17 81647906 81647907 + Frame_Shift_Ins INS - - TAAC rs10536197 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.796_799dup p.Cys267Ter p.C267* ENST00000574882 4/4 NA NA NA NA NA NA TSPAN10,frameshift_variant,p.Cys267Ter,ENST00000574882,NM_001290212.1;TSPAN10,frameshift_variant,p.Cys229Ter,ENST00000611590,NM_031945.4;PDE6G,downstream_gene_variant,,ENST00000331056,NM_002602.4;PDE6G,downstream_gene_variant,,ENST00000571004,NM_001365725.1;PDE6G,downstream_gene_variant,,ENST00000571224,NM_001365724.1;NPLOC4,intron_variant,,ENST00000570300,;PDE6G,downstream_gene_variant,,ENST00000574024,;PDE6G,downstream_gene_variant,,ENST00000574777,;TSPAN10,3_prime_UTR_variant,,ENST00000621293,;TSPAN10,downstream_gene_variant,,ENST00000571707,;,regulatory_region_variant,,ENSR00001014512,;,regulatory_region_variant,,ENSR00001014513,; TAAC ENSG00000182612 ENST00000574882 Transcript frameshift_variant 995-996/1837 794-795/1182 265/393 F/FNX ttt/ttTAACt rs10536197 1 NA 1 TSPAN10 HGNC HGNC:29942 protein_coding YES CCDS77130.1 ENSP00000480492 A0A087WWT4.36 UPI0003F48BD3 NM_001290212.1 4/4 Gene3D:1.10.1450.10,Pfam:PF00335,PANTHER:PTHR19282,PANTHER:PTHR19282:SF294,Superfamily:SSF48652,CDD:cd03167 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 insertion 1 5 NA NA . TTT . 5650.64 NA NA NA NA NA NA NA NA NA 81647906 SLC25A10 1468 . GRCh38 chr17 81717020 81717020 + Missense_Mutation SNP T T C novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.482T>C p.Phe161Ser p.F161S ENST00000545862 7/11 NA NA NA NA NA NA SLC25A10,missense_variant,p.Phe161Ser,ENST00000331531,NM_001270888.2;SLC25A10,missense_variant,p.Phe161Ser,ENST00000350690,NM_012140.5;AC139530.2,missense_variant,p.Phe316Ser,ENST00000571730,;SLC25A10,missense_variant,p.Phe161Ser,ENST00000545862,NM_001270953.1;SLC25A10,3_prime_UTR_variant,,ENST00000574129,;SLC25A10,3_prime_UTR_variant,,ENST00000574884,;SLC25A10,non_coding_transcript_exon_variant,,ENST00000573246,;SLC25A10,non_coding_transcript_exon_variant,,ENST00000570310,;SLC25A10,downstream_gene_variant,,ENST00000571876,; C ENSG00000183048 ENST00000545862 Transcript missense_variant 673/1911 482/1221 161/406 F/S tTc/tCc 1 NA 1 SLC25A10 HGNC HGNC:10980 protein_coding YES CCDS74176.1 ENSP00000446242 F6RGN5.44 UPI00027A7714 NM_001270953.1 deleterious_low_confidence(0) probably_damaging(0.982) 7/11 Gene3D:1.50.40.10,Pfam:PF00153,PROSITE_profiles:PS50920,PANTHER:PTHR45618,PANTHER:PTHR45618:SF13,Superfamily:SSF103506 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . TTC . 392.6 NA NA NA NA NA NA NA NA NA 81717020 NARF 26502 . GRCh38 chr17 82478816 82478816 + Silent SNP C C T rs763204239 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.537C>T p.Ala179= p.A179= ENST00000412079 6/13 NA NA NA NA NA NA NARF,synonymous_variant,p.Ala179=,ENST00000309794,NM_031968.2,NM_012336.4;NARF,synonymous_variant,p.Ala120=,ENST00000390006,NM_001038618.3;NARF,synonymous_variant,p.Ala179=,ENST00000412079,;NARF,synonymous_variant,p.Ala179=,ENST00000457415,;NARF,synonymous_variant,p.Ala131=,ENST00000345415,NM_001083608.2;NARF,synonymous_variant,p.Ala120=,ENST00000577410,;NARF,synonymous_variant,p.Ala134=,ENST00000577432,;NARF,upstream_gene_variant,,ENST00000584513,;NARF-AS1,upstream_gene_variant,,ENST00000582249,;NARF-IT1,upstream_gene_variant,,ENST00000584012,;NARF,non_coding_transcript_exon_variant,,ENST00000581743,;NARF,synonymous_variant,p.Ala179=,ENST00000374611,;NARF,synonymous_variant,p.Ala134=,ENST00000581202,;NARF,3_prime_UTR_variant,,ENST00000582907,;NARF,3_prime_UTR_variant,,ENST00000581795,;NARF,non_coding_transcript_exon_variant,,ENST00000577812,;NARF,non_coding_transcript_exon_variant,,ENST00000578082,;NARF,non_coding_transcript_exon_variant,,ENST00000579083,;NARF,upstream_gene_variant,,ENST00000584445,;NARF,upstream_gene_variant,,ENST00000584965,; T ENSG00000141562 ENST00000412079 Transcript synonymous_variant 677/1760 537/1512 179/503 A gcC/gcT rs763204239 1 NA 1 NARF HGNC HGNC:29916 protein_coding YES ENSP00000409710 A0A088AWN8.37 UPI00015DFBC9 6/13 PANTHER:PTHR11615,PANTHER:PTHR11615:SF124,Pfam:PF02906,Superfamily:SSF53920 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW NA SNV 5 NA NA NA . CCG . 3063.6 1.598e-05 6.168e-05 NA NA 0.0001088 NA NA NA 3.271e-05 82478816 ZNF750 79755 . GRCh38 chr17 82830341 82830341 + Missense_Mutation SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1973C>T p.Ala658Val p.A658V ENST00000269394 3/3 NA NA NA NA NA NA ZNF750,missense_variant,p.Ala658Val,ENST00000269394,NM_024702.3;ZNF750,missense_variant,p.Ala259Val,ENST00000572562,;TBCD,intron_variant,,ENST00000355528,NM_005993.5;TBCD,intron_variant,,ENST00000539345,; A ENSG00000141579 ENST00000269394 Transcript missense_variant 2251/3158 1973/2172 658/723 A/V gCc/gTc 1 NA -1 ZNF750 HGNC HGNC:25843 protein_coding YES CCDS11819.1 ENSP00000269394 Q32MQ0.112 UPI000013D82D NM_024702.3 tolerated(0.22) benign(0.085) 3/3 MobiDB_lite:mobidb-lite,PANTHER:PTHR14678,PANTHER:PTHR14678:SF1 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . GGC . 2489.6 NA NA NA NA NA NA NA NA NA 82830341 USP14 9097 . GRCh38 chr18 203176 203176 + Missense_Mutation SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1021G>A p.Ala341Thr p.A341T ENST00000261601 12/16 NA NA NA NA NA NA USP14,missense_variant,p.Ala341Thr,ENST00000261601,NM_005151.4;USP14,missense_variant,p.Ala295Thr,ENST00000383589,;USP14,missense_variant,p.Ala306Thr,ENST00000582707,NM_001037334.2;USP14,missense_variant,p.Ala330Thr,ENST00000400266,;USP14,non_coding_transcript_exon_variant,,ENST00000578942,;USP14,non_coding_transcript_exon_variant,,ENST00000578786,; A ENSG00000101557 ENST00000261601 Transcript missense_variant 1163/4972 1021/1485 341/494 A/T Gcc/Acc 1 NA 1 USP14 HGNC HGNC:12612 protein_coding YES CCDS32780.1 ENSP00000261601 P54578.196 UPI0000163941 NM_005151.4 deleterious(0) probably_damaging(0.968) 12/16 PDB-ENSP_mappings:2ayn.A,PDB-ENSP_mappings:2ayn.B,PDB-ENSP_mappings:2ayn.C,PDB-ENSP_mappings:2ayo.A,PDB-ENSP_mappings:5gjq.x,PDB-ENSP_mappings:6iik.A,PDB-ENSP_mappings:6iik.B,PDB-ENSP_mappings:6iil.A,PDB-ENSP_mappings:6iil.B,PDB-ENSP_mappings:6iim.A,PDB-ENSP_mappings:6iim.B,PDB-ENSP_mappings:6iin.A,PDB-ENSP_mappings:6iin.B,PDB-ENSP_mappings:6lvs.A,PDB-ENSP_mappings:6lvs.B,PDB-ENSP_mappings:6lvs.C,PDB-ENSP_mappings:6lvs.D,PDB-ENSP_mappings:6lvs.E,PDB-ENSP_mappings:6lvs.F,PROSITE_profiles:PS50235,CDD:cd02657,PANTHER:PTHR43982,Pfam:PF00443,Gene3D:3.90.70.10,Superfamily:SSF54001 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . TGC . 465.6 NA NA NA NA NA NA NA NA NA 203176 THOC1 9984 . GRCh38 chr18 225118 225119 + Frame_Shift_Ins INS - - G rs778021280 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1107dup p.Asp370ArgfsTer16 p.D370Rfs*16 ENST00000261600 14/21 NA NA NA NA NA NA THOC1,frameshift_variant,p.Asp370ArgfsTer16,ENST00000261600,NM_005131.3;THOC1,frameshift_variant,p.Asp370ArgfsTer16,ENST00000616322,;THOC1,frameshift_variant,p.Asp101ArgfsTer16,ENST00000579891,;THOC1,3_prime_UTR_variant,,ENST00000631280,;THOC1,downstream_gene_variant,,ENST00000621904,;THOC1,3_prime_UTR_variant,,ENST00000580038,;THOC1,non_coding_transcript_exon_variant,,ENST00000583228,;THOC1,non_coding_transcript_exon_variant,,ENST00000578529,;THOC1,non_coding_transcript_exon_variant,,ENST00000579232,;THOC1,non_coding_transcript_exon_variant,,ENST00000584470,;THOC1,non_coding_transcript_exon_variant,,ENST00000577552,; G ENSG00000079134 ENST00000261600 Transcript frameshift_variant 1135-1136/2108 1107-1108/1974 369-370/657 -/X -/C rs778021280 1 NA -1 THOC1 HGNC HGNC:19070 protein_coding YES CCDS45820.1 ENSP00000261600 Q96FV9.170 UPI0000071782 NM_005131.3 14/21 Pfam:PF11957,PANTHER:PTHR13265,PANTHER:PTHR13265:SF2 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 insertion 1 NA NA NA . TCG . 1215.64 2.592e-05 NA 7.08e-05 NA NA NA 3.674e-05 NA NA 225118 METTL4 64863 . GRCh38 chr18 2566966 2566966 + Missense_Mutation SNP C C T rs761026598 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.251G>A p.Arg84Gln p.R84Q ENST00000574538 2/9 NA NA NA NA NA NA METTL4,missense_variant,p.Arg84Gln,ENST00000574538,NM_022840.5;METTL4,missense_variant,p.Arg84Gln,ENST00000319888,NM_001308401.2;METTL4,missense_variant,p.Arg79Gln,ENST00000609769,;METTL4,intron_variant,,ENST00000577166,;NDC80,upstream_gene_variant,,ENST00000261597,NM_006101.3;METTL4,downstream_gene_variant,,ENST00000574676,;NDC80,upstream_gene_variant,,ENST00000575515,;AP005136.3,upstream_gene_variant,,ENST00000583253,;METTL4,non_coding_transcript_exon_variant,,ENST00000573134,;AP005136.2,upstream_gene_variant,,ENST00000579765,; T ENSG00000101574 ENST00000574538 Transcript missense_variant 1046/3684 251/1419 84/472 R/Q cGa/cAa rs761026598,COSV55247771 1 NA -1 METTL4 HGNC HGNC:24726 protein_coding YES CCDS11826.1 ENSP00000458290 Q8N3J2.128 UPI000020191B NM_022840.5 tolerated(1) benign(0) 2/9 PANTHER:PTHR12829:SF4,PANTHER:PTHR12829 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 1 NA 0,1 NA NA . TCG . 1865.6 1.989e-05 NA NA NA NA NA 4.397e-05 NA NA 2566966 LAMA1 284217 . GRCh38 chr18 6975939 6975939 + Missense_Mutation SNP C C A novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.6487G>T p.Ala2163Ser p.A2163S ENST00000389658 45/63 NA NA NA NA NA NA LAMA1,missense_variant,p.Ala2163Ser,ENST00000389658,NM_005559.4;LAMA1,splice_region_variant,,ENST00000579014,;LAMA1,upstream_gene_variant,,ENST00000484335,; A ENSG00000101680 ENST00000389658 Transcript missense_variant,splice_region_variant 6564/9642 6487/9228 2163/3075 A/S Gct/Tct 1 NA -1 LAMA1 HGNC HGNC:6481 protein_coding YES CCDS32787.1 ENSP00000374309 P25391.206 UPI00001C1FF9 NM_005559.4 tolerated(0.75) benign(0) 45/63 Gene3D:2.60.120.200,Pfam:PF00054,PROSITE_profiles:PS50025,PANTHER:PTHR10574,PANTHER:PTHR10574:SF291,SMART:SM00282,Superfamily:SSF49899,CDD:cd00110 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . GCG . 1136.6 NA NA NA NA NA NA NA NA NA 6975939 MTCL1 23255 . GRCh38 chr18 8796316 8796316 + Missense_Mutation SNP A A G novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3052A>G p.Thr1018Ala p.T1018A ENST00000306329 7/14 NA NA NA NA NA NA MTCL1,missense_variant,p.Thr699Ala,ENST00000359865,NM_015210.4;MTCL1,missense_variant,p.Thr699Ala,ENST00000400050,;MTCL1,missense_variant,p.Thr658Ala,ENST00000517570,;MTCL1,missense_variant,p.Thr1018Ala,ENST00000306329,NM_001378206.1,NM_001378205.1,NM_001378207.1;MTCL1,missense_variant,p.Thr14Ala,ENST00000518815,;MTCL1,upstream_gene_variant,,ENST00000522592,;MTCL1,3_prime_UTR_variant,,ENST00000520495,; G ENSG00000168502 ENST00000306329 Transcript missense_variant 3052/5718 3052/5718 1018/1905 T/A Acc/Gcc 1 NA 1 MTCL1 HGNC HGNC:29121 protein_coding YES ENSP00000305027 Q9Y4B5.139 UPI0001AE65C5 NM_001378206.1,NM_001378205.1,NM_001378207.1 tolerated(0.35) benign(0.018) 7/14 Coiled-coils_(Ncoils):Coil,PANTHER:PTHR15742,PANTHER:PTHR15742:SF3 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . AAC . 2587.6 NA NA NA NA NA NA NA NA NA 8796316 TXNDC2 84203 . GRCh38 chr18 9887392 9887436 + In_Frame_Del DEL GAAGCCATCCAGCCCAAGGAGGGTGACATCCCCAAGTCCCCAGAA GAAGCCATCCAGCCCAAGGAGGGTGACATCCCCAAGTCCCCAGAA - rs781380178 NA HCI-EC-23 NORMAL GAAGCCATCCAGCCCAAGGAGGGTGACATCCCCAAGTCCCCAGAA GAAGCCATCCAGCCCAAGGAGGGTGACATCCCCAAGTCCCCAGAA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.953_997del p.Pro318_Ser332del p.P318_S332del ENST00000306084 2/2 NA NA NA NA NA NA TXNDC2,splice_donor_variant,,ENST00000611534,;TXNDC2,splice_acceptor_variant,,ENST00000536353,;TXNDC2,inframe_deletion,p.Pro251_Ser265del,ENST00000357775,NM_032243.6;TXNDC2,inframe_deletion,p.Pro318_Ser332del,ENST00000306084,NM_001098529.2;TXNDC2,downstream_gene_variant,,ENST00000584255,;TXNDC2,downstream_gene_variant,,ENST00000426718,; - ENSG00000168454 ENST00000306084 Transcript inframe_deletion 1112-1156/1873 913-957/1662 305-319/553 EAIQPKEGDIPKSPE/- GAAGCCATCCAGCCCAAGGAGGGTGACATCCCCAAGTCCCCAGAA/- rs781380178 1 NA 1 TXNDC2 HGNC HGNC:16470 protein_coding YES CCDS42414.1 ENSP00000304908 Q86VQ3.160 A0A140VJY8.24 UPI000013EAE7 NM_001098529.2 2/2 PANTHER:PTHR10438,PANTHER:PTHR10438:SF107,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 deletion 1 40 NA NA . AGGAAGCCATCCAGCCCAAGGAGGGTGACATCCCCAAGTCCCCAGAAG . 24693.03 NA NA NA NA NA NA NA NA NA 9887391 PIEZO2 63895 . GRCh38 chr18 10671638 10671639 + Frame_Shift_Ins INS - - A rs1310838813 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.8486dup p.Leu2829PhefsTer33 p.L2829Ffs*33 ENST00000674853 56/56 NA NA NA NA NA NA PIEZO2,frameshift_variant,p.Leu2829PhefsTer33,ENST00000674853,NM_001378183.1;PIEZO2,frameshift_variant,p.Leu2667PhefsTer33,ENST00000383408,;PIEZO2,frameshift_variant,p.Leu2653PhefsTer33,ENST00000302079,;PIEZO2,frameshift_variant,p.Leu2741PhefsTer33,ENST00000580640,;PIEZO2,frameshift_variant,p.Leu2716PhefsTer33,ENST00000503781,NM_022068.4;PIEZO2,intron_variant,,ENST00000582937,;AP001180.1,downstream_gene_variant,,ENST00000562202,;PIEZO2,non_coding_transcript_exon_variant,,ENST00000538948,;PIEZO2,3_prime_UTR_variant,,ENST00000582913,;PIEZO2,downstream_gene_variant,,ENST00000581680,; A ENSG00000154864 ENST00000674853 Transcript frameshift_variant 9467-9468/10859 8486-8487/8598 2829/2865 L/FX tta/ttTa rs1310838813 1 NA -1 PIEZO2 HGNC HGNC:26270 protein_coding YES ENSP00000501957 A0A2H4UKA7.11 UPI000CA14149 NM_001378183.1 56/56 Pfam:PF12166,PANTHER:PTHR13167,PANTHER:PTHR13167:SF24 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH NA insertion NA NA NA 1 . CTA . 54.64 NA NA NA NA NA NA NA NA NA 10671638 IMPA2 3613 . GRCh38 chr18 12009980 12009980 + Missense_Mutation SNP G G A NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.328G>A p.Val110Met p.V110M ENST00000269159 3/8 NA NA NA NA NA NA IMPA2,missense_variant,p.Val110Met,ENST00000269159,NM_014214.3;IMPA2,5_prime_UTR_variant,,ENST00000589238,;IMPA2,5_prime_UTR_variant,,ENST00000588927,;IMPA2,downstream_gene_variant,,ENST00000625802,;IMPA2,non_coding_transcript_exon_variant,,ENST00000588752,;IMPA2,missense_variant,p.Val110Met,ENST00000590107,;IMPA2,missense_variant,p.Val110Met,ENST00000590138,;IMPA2,missense_variant,p.Val18Met,ENST00000586230,;IMPA2,3_prime_UTR_variant,,ENST00000383376,;IMPA2,non_coding_transcript_exon_variant,,ENST00000588167,;IMPA2,non_coding_transcript_exon_variant,,ENST00000588863,; A ENSG00000141401 ENST00000269159 Transcript missense_variant 491/1449 328/867 110/288 V/M Gtg/Atg COSV52321776 1 NA 1 IMPA2 HGNC HGNC:6051 protein_coding YES CCDS11855.1 ENSP00000269159 O14732.173 UPI000012FB90 NM_014214.3 deleterious(0) probably_damaging(0.951) 3/8 PDB-ENSP_mappings:2czh.A,PDB-ENSP_mappings:2czh.B,PDB-ENSP_mappings:2czi.A,PDB-ENSP_mappings:2czk.A,PDB-ENSP_mappings:2ddk.A,PDB-ENSP_mappings:2ddk.B,PDB-ENSP_mappings:2fvz.A,PDB-ENSP_mappings:2fvz.B,PDB-ENSP_mappings:2fvz.C,PDB-ENSP_mappings:2fvz.D,Gene3D:3.30.540.10,Pfam:PF00459,Prints:PR00377,PROSITE_patterns:PS00629,PANTHER:PTHR20854,PANTHER:PTHR20854:SF29,Superfamily:SSF56655,CDD:cd01639 NA NA NA NA NA NA NA NA NA 1 NA NA NA NA MODERATE 1 SNV 1 NA 1 NA NA . TGT . 3666.6 NA NA NA NA NA NA NA NA NA 12009980 CIDEA 1149 . GRCh38 chr18 12274134 12274134 + Silent SNP G G A rs753380538 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.372G>A p.Ser124= p.S124= ENST00000320477 4/5 NA NA NA NA NA NA CIDEA,synonymous_variant,p.Ser124=,ENST00000320477,NM_001318383.2,NM_001279.4;CIDEA,non_coding_transcript_exon_variant,,ENST00000521296,;CIDEA,intron_variant,,ENST00000520620,;CIDEA,3_prime_UTR_variant,,ENST00000522713,; A ENSG00000176194 ENST00000320477 Transcript synonymous_variant 395/1008 372/660 124/219 S tcG/tcA rs753380538,COSV100254966 1 NA 1 CIDEA HGNC HGNC:1976 protein_coding YES CCDS11856.1 ENSP00000320209 O60543.139 UPI0000049059 NM_001318383.2,NM_001279.4 4/5 PANTHER:PTHR12306:SF8,PANTHER:PTHR12306 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA LOW 1 SNV 1 NA 0,1 NA NA . CGG . 4297.6 2.784e-05 NA 2.891e-05 NA NA NA 4.396e-05 NA 3.266e-05 12274134 ANKRD30B 374860 . GRCh38 chr18 14748560 14748560 + Silent SNP C C A novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.141C>A p.Ser47= p.S47= ENST00000665241 1/37 NA NA NA NA NA NA ANKRD30B,synonymous_variant,p.Ser47=,ENST00000358984,;ANKRD30B,synonymous_variant,p.Ser47=,ENST00000665241,NM_001367607.1;ANKRD30B,intron_variant,,ENST00000579292,;ANKRD30B,synonymous_variant,p.Ser47=,ENST00000580206,;,regulatory_region_variant,,ENSR00000570248,; A ENSG00000180777 ENST00000665241 Transcript synonymous_variant 321/4529 141/4221 47/1406 S tcC/tcA 1 NA 1 ANKRD30B HGNC HGNC:24165 protein_coding YES ENSP00000499676 A0A590UK20.2 UPI0011492028 NM_001367607.1 1/37 Gene3D:1.25.40.20,Pfam:PF12796,PROSITE_profiles:PS50297,PANTHER:PTHR24147,PANTHER:PTHR24147:SF52,Superfamily:SSF48403 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV NA NA NA NA . CCC . 4170.6 NA NA NA NA NA NA NA NA NA 14748560 ROCK1 6093 . GRCh38 chr18 20979951 20979952 + Frame_Shift_Ins INS - - T rs1336897725 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2612dup p.Asn871LysfsTer14 p.N871Kfs*14 ENST00000399799 22/33 NA NA NA NA NA NA ROCK1,frameshift_variant,p.Asn871LysfsTer14,ENST00000399799,NM_005406.3;ROCK1,frameshift_variant,p.Asn871LysfsTer14,ENST00000635540,;ROCK1,non_coding_transcript_exon_variant,,ENST00000583556,; T ENSG00000067900 ENST00000399799 Transcript frameshift_variant 3515-3516/9446 2612-2613/4065 871/1354 N/KX aac/aaAc rs1336897725 1 NA -1 ROCK1 HGNC HGNC:10251 protein_coding YES CCDS11870.2 ENSP00000382697 Q13464.209 UPI000006F0A4 NM_005406.3 22/33 PDB-ENSP_mappings:4l2w.A,PDB-ENSP_mappings:4l2w.B,PDB-ENSP_mappings:4l2w.C,PDB-ENSP_mappings:4l2w.D,PDB-ENSP_mappings:5f5p.C,PDB-ENSP_mappings:5f5p.D,PDB-ENSP_mappings:5f5p.E,PDB-ENSP_mappings:5f5p.F,Coiled-coils_(Ncoils):Coil,PIRSF:PIRSF037568,PANTHER:PTHR22988,PANTHER:PTHR22988:SF28,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 insertion 1 NA NA NA . TGT . 49.32 5.712e-06 NA NA NA NA 5.447e-05 NA NA NA 20979951 RBBP8 5932 . GRCh38 chr18 22992780 22992782 + In_Frame_Del DEL AAG AAG - novel NA HCI-EC-23 NORMAL AAG AAG NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.958_960del p.Glu320del p.E320del ENST00000360790 11/19 NA NA NA NA NA NA RBBP8,inframe_deletion,p.Glu320del,ENST00000399722,NM_203291.1;RBBP8,inframe_deletion,p.Glu320del,ENST00000327155,NM_002894.3;RBBP8,inframe_deletion,p.Glu320del,ENST00000399725,NM_203292.1;RBBP8,inframe_deletion,p.Glu320del,ENST00000360790,;RBBP8,inframe_deletion,p.Glu320del,ENST00000399721,;RBBP8,downstream_gene_variant,,ENST00000577445,;RBBP8,upstream_gene_variant,,ENST00000583057,;RBBP8,downstream_gene_variant,,ENST00000585177,; - ENSG00000101773 ENST00000360790 Transcript inframe_deletion 1076-1078/2962 953-955/2709 318-319/902 QE/Q cAAGaa/caa 1 NA 1 RBBP8 HGNC HGNC:9891 protein_coding YES ENSP00000354024 I6L8A6.65 UPI0000141B1C 11/19 PANTHER:PTHR15107,PANTHER:PTHR15107:SF4,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 deletion 1 5 NA 1 . TCAAGA . 2428.6 NA NA NA NA NA NA NA NA NA 22992779 RIOK3 8780 . GRCh38 chr18 23464086 23464086 + Frame_Shift_Del DEL A A - novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.306del p.Lys102AsnfsTer68 p.K102Nfs*68 ENST00000339486 3/13 NA NA NA NA NA NA RIOK3,frameshift_variant,p.Lys102AsnfsTer68,ENST00000339486,NM_003831.5;RIOK3,frameshift_variant,p.Lys86AsnfsTer68,ENST00000581585,NM_001348193.2;RIOK3,frameshift_variant,p.Lys102AsnfsTer68,ENST00000577501,;RIOK3,non_coding_transcript_exon_variant,,ENST00000581302,;RIOK3,non_coding_transcript_exon_variant,,ENST00000584052,;RIOK3,upstream_gene_variant,,ENST00000581339,;RIOK3,upstream_gene_variant,,ENST00000584130,;RIOK3,downstream_gene_variant,,ENST00000584960,;RIOK3,upstream_gene_variant,,ENST00000584992,; - ENSG00000101782 ENST00000339486 Transcript frameshift_variant 452/3574 299/1560 100/519 E/X gAa/ga 1 NA 1 RIOK3 HGNC HGNC:11451 protein_coding YES CCDS11877.1 ENSP00000341874 O14730.170 B0YJ89.100 UPI000013C732 NM_003831.5 3/13 PANTHER:PTHR45723,PANTHER:PTHR45723:SF1,PIRSF:PIRSF038146 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 7 NA NA . AGAA . 4212.6 NA NA NA NA NA NA NA NA NA 23464085 ZNF521 25925 . GRCh38 chr18 25227407 25227407 + Frame_Shift_Del DEL C C - NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.511del p.Asp171ThrfsTer19 p.D171Tfs*19 ENST00000361524 4/8 NA NA NA NA NA NA ZNF521,frameshift_variant,p.Asp171ThrfsTer19,ENST00000361524,NM_015461.3;ZNF521,frameshift_variant,p.Asp171ThrfsTer19,ENST00000538137,;ZNF521,frameshift_variant,p.Asp171ThrfsTer19,ENST00000577801,;ZNF521,5_prime_UTR_variant,,ENST00000584787,NM_001308225.2;ZNF521,upstream_gene_variant,,ENST00000577775,;ZNF521,downstream_gene_variant,,ENST00000580488,;ZNF521,non_coding_transcript_exon_variant,,ENST00000577720,;ZNF521,non_coding_transcript_exon_variant,,ENST00000581869,;ZNF521,downstream_gene_variant,,ENST00000579111,;ZNF521,downstream_gene_variant,,ENST00000583005,;ZNF521,frameshift_variant,p.Asp171ThrfsTer19,ENST00000399425,;ZNF521,downstream_gene_variant,,ENST00000583398,; - ENSG00000198795 ENST00000361524 Transcript frameshift_variant 674/4887 511/3936 171/1311 D/X Gac/ac COSV64132345,COSV64132446 1 NA -1 ZNF521 HGNC HGNC:24605 protein_coding YES CCDS32806.1 ENSP00000354794 Q96K83.153 UPI000006F982 NM_015461.3 4/8 Gene3D:3.30.160.60,PROSITE_profiles:PS50157,PANTHER:PTHR24376,PANTHER:PTHR24376:SF84,Superfamily:SSF57667 NA NA NA NA NA NA NA NA NA 1,1 NA NA NA NA HIGH 1 deletion 1 NA 1,1 NA 1 . GTCC . 4724.6 NA NA NA NA NA NA NA NA NA 25227406 KCTD1 284252 . GRCh38 chr18 26547052 26547052 + Silent SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1485C>T p.Pro495= p.P495= ENST00000580059 1/5 NA NA NA NA NA NA KCTD1,synonymous_variant,p.Pro495=,ENST00000580059,NM_001142730.3;KCTD1,intron_variant,,ENST00000317932,;KCTD1,intron_variant,,ENST00000408011,NM_001351443.1,NM_001136205.2;KCTD1,intron_variant,,ENST00000417602,NM_001258221.1;KCTD1,intron_variant,,ENST00000579973,NM_198991.3;KCTD1,intron_variant,,ENST00000580191,NM_001258222.3;KCTD1,intron_variant,,ENST00000580638,;KCTD1,upstream_gene_variant,,ENST00000578973,;AC007996.1,upstream_gene_variant,,ENST00000620414,;,regulatory_region_variant,,ENSR00000101780,; A ENSG00000134504 ENST00000580059 Transcript synonymous_variant 1502/3448 1485/2598 495/865 P ccC/ccT 1 NA -1 KCTD1 HGNC HGNC:18249 protein_coding YES ENSP00000463041 A0A2U3U043.11 UPI00018848F1 NM_001142730.3 1/5 Low_complexity_(Seg):seg,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 3 NA NA 1 . GGG . 115.6 NA NA NA NA NA NA NA NA NA 26547052 KCTD1 284252 . GRCh38 chr18 26547054 26547054 + Missense_Mutation SNP G G C novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1483C>G p.Pro495Ala p.P495A ENST00000580059 1/5 NA NA NA NA NA NA KCTD1,missense_variant,p.Pro495Ala,ENST00000580059,NM_001142730.3;KCTD1,intron_variant,,ENST00000317932,;KCTD1,intron_variant,,ENST00000408011,NM_001351443.1,NM_001136205.2;KCTD1,intron_variant,,ENST00000417602,NM_001258221.1;KCTD1,intron_variant,,ENST00000579973,NM_198991.3;KCTD1,intron_variant,,ENST00000580191,NM_001258222.3;KCTD1,intron_variant,,ENST00000580638,;KCTD1,upstream_gene_variant,,ENST00000578973,;AC007996.1,upstream_gene_variant,,ENST00000620414,;,regulatory_region_variant,,ENSR00000101780,; C ENSG00000134504 ENST00000580059 Transcript missense_variant 1500/3448 1483/2598 495/865 P/A Ccc/Gcc 1 NA -1 KCTD1 HGNC HGNC:18249 protein_coding YES ENSP00000463041 A0A2U3U043.11 UPI00018848F1 NM_001142730.3 deleterious_low_confidence(0.01) benign(0.015) 1/5 Low_complexity_(Seg):seg,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 3 NA NA 1 . GGG . 121.6 NA NA NA NA NA NA NA NA NA 26547054 DSG1 1828 . GRCh38 chr18 31346115 31346115 + Missense_Mutation SNP T T C novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2017T>C p.Ser673Pro p.S673P ENST00000257192 14/15 NA NA NA NA NA NA DSG1,missense_variant,p.Ser673Pro,ENST00000257192,NM_001942.4;DSG1-AS1,intron_variant,,ENST00000578119,;DSG1-AS1,intron_variant,,ENST00000581856,;RNU6-167P,upstream_gene_variant,,ENST00000384292,;DSG1-AS1,downstream_gene_variant,,ENST00000578477,;DSG1,non_coding_transcript_exon_variant,,ENST00000462981,; C ENSG00000134760 ENST00000257192 Transcript missense_variant 2158/7191 2017/3150 673/1049 S/P Tct/Cct 1 NA 1 DSG1 HGNC HGNC:3048 protein_coding YES CCDS11896.1 ENSP00000257192 Q02413.201 UPI000013CF4C NM_001942.4 deleterious(0.05) benign(0.076) 14/15 Pfam:PF01049,PANTHER:PTHR24025,PANTHER:PTHR24025:SF9 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . CTC . 2299.6 NA NA NA NA NA NA NA NA NA 31346115 ASXL3 80816 . GRCh38 chr18 33745951 33745951 + Frame_Shift_Del DEL C C - rs747712363 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.6110del p.Pro2037HisfsTer43 p.P2037Hfs*43 ENST00000269197 12/12 NA NA NA NA NA NA ASXL3,frameshift_variant,p.Pro2037HisfsTer43,ENST00000269197,NM_030632.3;ASXL3,downstream_gene_variant,,ENST00000642541,;ASXL3,downstream_gene_variant,,ENST00000592288,;ASXL3,downstream_gene_variant,,ENST00000592541,;ASXL3,downstream_gene_variant,,ENST00000593195,; - ENSG00000141431 ENST00000269197 Transcript frameshift_variant 6516/11760 6103/6747 2035/2248 P/X Ccc/cc rs747712363 1 NA 1 ASXL3 HGNC HGNC:29357 protein_coding YES CCDS45847.1 ENSP00000269197 Q9C0F0.118 UPI000156D0F3 NM_030632.3 12/12 PANTHER:PTHR13578,PANTHER:PTHR13578:SF18,Low_complexity_(Seg):seg NA NA NA NA NA NA NA 0.01313 0.01439 NA NA NA NA HIGH 1 deletion 5 7 NA 1 . CTCC . 463.6 NA NA NA NA NA NA NA NA NA 33745950 DTNA 1837 . GRCh38 chr18 34838756 34838756 + Missense_Mutation SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1184G>A p.Ser395Asn p.S395N ENST00000444659 12/22 NA NA NA NA NA NA DTNA,missense_variant,p.Ser395Asn,ENST00000444659,NM_001390.4;DTNA,missense_variant,p.Ser392Asn,ENST00000348997,NM_032978.7,NM_001391.5;DTNA,missense_variant,p.Ser395Asn,ENST00000399113,;DTNA,missense_variant,p.Ser104Asn,ENST00000269192,NM_001198942.1;DTNA,intron_variant,,ENST00000283365,NM_032975.3;DTNA,intron_variant,,ENST00000399121,NM_001198939.2;DTNA,intron_variant,,ENST00000556414,NM_001198944.1;DTNA,intron_variant,,ENST00000587723,;DTNA,intron_variant,,ENST00000591182,NM_032980.4;DTNA,intron_variant,,ENST00000595022,NM_001198940.2;DTNA,intron_variant,,ENST00000596745,NM_001198945.2;DTNA,intron_variant,,ENST00000597599,NM_001198941.2;DTNA,intron_variant,,ENST00000597674,NM_032981.5;DTNA,intron_variant,,ENST00000598142,;DTNA,intron_variant,,ENST00000598334,NM_001198938.2;DTNA,intron_variant,,ENST00000598774,NM_032979.5;DTNA,intron_variant,,ENST00000599844,;DTNA,intron_variant,,ENST00000601125,NM_001198943.1;DTNA,non_coding_transcript_exon_variant,,ENST00000601632,;DTNA,intron_variant,,ENST00000601895,;,regulatory_region_variant,,ENSR00001017157,; A ENSG00000134769 ENST00000444659 Transcript missense_variant 1185/6343 1184/2232 395/743 S/N aGc/aAc 1 NA 1 DTNA HGNC HGNC:3057 protein_coding YES ENSP00000405819 Q9Y4J8.191 UPI000013DD3C NM_001390.4 tolerated(0.15) benign(0) 12/22 PANTHER:PTHR12268:SF19,PANTHER:PTHR12268,PIRSF:PIRSF038204 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA 1 . AGC . 2341.6 NA NA NA NA NA NA NA NA NA 34838756 ELP2 55250 . GRCh38 chr18 36141159 36141159 + Silent SNP T T C novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.741T>C p.Asn247= p.N247= ENST00000442325 7/23 NA NA NA NA NA NA ELP2,synonymous_variant,p.Asn182=,ENST00000358232,NM_018255.4,NM_001324467.2,NM_001324465.2,NM_001324468.2;ELP2,synonymous_variant,p.Asn247=,ENST00000442325,NM_001242875.3,NM_001324466.2;ELP2,synonymous_variant,p.Asn221=,ENST00000350494,NM_001242876.3;ELP2,synonymous_variant,p.Asn156=,ENST00000351393,NM_001242877.3;ELP2,synonymous_variant,p.Asn156=,ENST00000542824,NM_001242878.3;ELP2,synonymous_variant,p.Asn33=,ENST00000543127,;ELP2,intron_variant,,ENST00000423854,NM_001242879.3;ELP2,non_coding_transcript_exon_variant,,ENST00000540730,;ELP2,non_coding_transcript_exon_variant,,ENST00000543439,;ELP2,upstream_gene_variant,,ENST00000535093,;ELP2,downstream_gene_variant,,ENST00000540135,;ELP2,synonymous_variant,p.Asn182=,ENST00000539560,;ELP2,3_prime_UTR_variant,,ENST00000542430,;ELP2,3_prime_UTR_variant,,ENST00000545632,;ELP2,3_prime_UTR_variant,,ENST00000544267,;ELP2,non_coding_transcript_exon_variant,,ENST00000536373,;ELP2,non_coding_transcript_exon_variant,,ENST00000540323,;ELP2,intron_variant,,ENST00000540799,;ELP2,downstream_gene_variant,,ENST00000535488,;ELP2,downstream_gene_variant,,ENST00000541190,; C ENSG00000134759 ENST00000442325 Transcript synonymous_variant 777/2722 741/2676 247/891 N aaT/aaC 1 NA 1 ELP2 HGNC HGNC:18248 protein_coding YES CCDS56065.1 ENSP00000414851 Q6IA86.158 UPI0000E03DE9 NM_001242875.3,NM_001324466.2 7/23 Gene3D:2.130.10.10,PANTHER:PTHR44111,Superfamily:SSF50998 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 2 NA NA 1 . ATG . 1769.6 NA NA NA NA NA NA NA NA NA 36141159 FHOD3 80206 . GRCh38 chr18 36297901 36297901 + Frame_Shift_Del DEL C C - novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.69del p.Glu24SerfsTer77 p.E24Sfs*77 ENST00000590592 1/29 NA NA NA NA NA NA FHOD3,frameshift_variant,p.Glu24SerfsTer77,ENST00000257209,NM_025135.5;FHOD3,frameshift_variant,p.Glu24SerfsTer77,ENST00000590592,NM_001281740.3;FHOD3,frameshift_variant,p.Glu24SerfsTer77,ENST00000359247,NM_001281739.3;FHOD3,non_coding_transcript_exon_variant,,ENST00000589114,;,regulatory_region_variant,,ENSR00000102293,; - ENSG00000134775 ENST00000590592 Transcript frameshift_variant 66/4869 66/4869 22/1622 F/X ttC/tt 1 NA 1 FHOD3 HGNC HGNC:26178 protein_coding YES CCDS62418.1 ENSP00000466937 Q2V2M9.123 UPI0002840E0A NM_001281740.3 1/29 Gene3D:1.25.10.10,Pfam:PF18382,PROSITE_profiles:PS51232,PANTHER:PTHR45920,PANTHER:PTHR45920:SF3 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 3 NA NA . TTCC . 4235.6 NA NA NA NA NA NA NA NA NA 36297900 CELF4 56853 . GRCh38 chr18 37266584 37266584 + Missense_Mutation SNP C C T rs754319239 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1114G>A p.Ala372Thr p.A372T ENST00000420428 9/13 NA NA NA NA NA NA CELF4,missense_variant,p.Ala372Thr,ENST00000420428,NM_001353748.2,NM_001353703.2,NM_001353717.2,NM_001353751.2,NM_001353731.2,NM_020180.4,NM_001353734.2,NM_001353740.2,NM_001353760.2,NM_001353757.2;CELF4,missense_variant,p.Ala371Thr,ENST00000591287,NM_001353733.2,NM_001353711.2,NM_001353714.2,NM_001353695.2,NM_001353750.2,NM_001353710.2,NM_001353712.2,NM_001353718.2,NM_001330603.2,NM_001353724.2,NM_001353744.2;CELF4,missense_variant,p.Ala362Thr,ENST00000334919,NM_001353722.2,NM_001353706.2,NM_001353732.2,NM_001353727.2,NM_001353697.2,NM_001353699.2,NM_001353713.2,NM_001353720.2,NM_001353700.2,NM_001353719.2,NM_001025089.2,NM_001353715.2,NM_001353716.2,NM_001353754.2,NM_001353737.2,NM_001353729.2,NM_001353730.2,NM_001353696.2,NM_001353747.2,NM_001353723.2,NM_001353736.2,NM_001353743.2,NM_001353708.2,NM_001353758.2;CELF4,missense_variant,p.Ala65Thr,ENST00000588591,;CELF4,missense_variant,p.Ala57Thr,ENST00000586009,;CELF4,missense_variant,p.Ala371Thr,ENST00000603232,NM_001353721.2,NM_001353752.2,NM_001353741.2,NM_001353745.2,NM_001025087.2,NM_001353746.2;CELF4,missense_variant,p.Ala370Thr,ENST00000361795,NM_001353725.2,NM_001353739.2,NM_001353705.2,NM_001353755.2,NM_001353753.2,NM_001353728.2,NM_001353709.2,NM_001353726.2,NM_001353735.2,NM_001353707.2,NM_001353702.2,NM_001025088.2,NM_001353738.2,NM_001353742.2,NM_001353698.2,NM_001353749.2,NM_001353759.2,NM_001353761.2,NM_001353756.2;CELF4,missense_variant,p.Ala370Thr,ENST00000601019,;CELF4,missense_variant,p.Ala372Thr,ENST00000591282,;CELF4,missense_variant,p.Ala361Thr,ENST00000588597,;CELF4,missense_variant,p.Ala61Thr,ENST00000589386,;CELF4,missense_variant,p.Ala61Thr,ENST00000593271,;CELF4,missense_variant,p.Ala61Thr,ENST00000587657,;CELF4,upstream_gene_variant,,ENST00000587911,;CELF4,non_coding_transcript_exon_variant,,ENST00000587074,;CELF4,3_prime_UTR_variant,,ENST00000590112,;CELF4,non_coding_transcript_exon_variant,,ENST00000591421,;,regulatory_region_variant,,ENSR00000285741,;,regulatory_region_variant,,ENSR00000573356,; T ENSG00000101489 ENST00000420428 Transcript missense_variant 1271/3820 1114/1461 372/486 A/T Gcc/Acc rs754319239,COSV58448300 1 NA -1 CELF4 HGNC HGNC:14015 protein_coding YES CCDS32818.1 ENSP00000410584 Q9BZC1.159 UPI00000726FC NM_001353748.2,NM_001353703.2,NM_001353717.2,NM_001353751.2,NM_001353731.2,NM_020180.4,NM_001353734.2,NM_001353740.2,NM_001353760.2,NM_001353757.2 tolerated(0.14) benign(0.009) 9/13 PANTHER:PTHR24012:SF721,PANTHER:PTHR24012,Superfamily:SSF54928 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 5 NA 0,1 NA NA . GCG . 7557.6 1.413e-05 NA NA NA NA NA 1.051e-05 NA 7.637e-05 37266584 ATP5F1A 498 . GRCh38 chr18 46091683 46091683 + Frame_Shift_Del DEL T T - novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.308del p.Lys103ArgfsTer5 p.K103Rfs*5 ENST00000398752 3/12 NA NA NA NA NA NA ATP5F1A,frameshift_variant,p.Lys103ArgfsTer5,ENST00000398752,NM_004046.6;ATP5F1A,frameshift_variant,p.Lys53ArgfsTer5,ENST00000593152,NM_001001935.3,NM_001257335.1;ATP5F1A,frameshift_variant,p.Lys103ArgfsTer5,ENST00000282050,NM_001001937.1;ATP5F1A,frameshift_variant,p.Lys103ArgfsTer5,ENST00000590665,NM_001257334.2;ATP5F1A,frameshift_variant,p.Lys53ArgfsTer5,ENST00000589869,;ATP5F1A,frameshift_variant,p.Lys53ArgfsTer5,ENST00000590324,;ATP5F1A,frameshift_variant,p.Lys103ArgfsTer5,ENST00000590406,;ATP5F1A,frameshift_variant,p.Lys53ArgfsTer5,ENST00000592989,;ATP5F1A,intron_variant,,ENST00000589252,;ATP5F1A,downstream_gene_variant,,ENST00000591267,;ATP5F1A,splice_region_variant,,ENST00000586592,;ATP5F1A,splice_region_variant,,ENST00000590156,;ATP5F1A,splice_region_variant,,ENST00000589611,;ATP5F1A,splice_region_variant,,ENST00000590448,;ATP5F1A,splice_region_variant,,ENST00000591981,;ATP5F1A,splice_region_variant,,ENST00000585650,;ATP5F1A,intron_variant,,ENST00000592364,;ATP5F1A,upstream_gene_variant,,ENST00000586523,;ATP5F1A,downstream_gene_variant,,ENST00000588390,; - ENSG00000152234 ENST00000398752 Transcript frameshift_variant,splice_region_variant 373/5761 308/1662 103/553 K/X aAg/ag 1 NA -1 ATP5F1A HGNC HGNC:823 protein_coding YES CCDS11927.1 ENSP00000381736 P25705.235 V9HW26.60 UPI000006221A NM_004046.6 3/12 HAMAP:MF_01346,CDD:cd18116,PANTHER:PTHR43089,PANTHER:PTHR43089:SF6,PIRSF:PIRSF039088,Gene3D:2.40.30.20,TIGRFAM:TIGR00962,Pfam:PF02874,Superfamily:SSF50615 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 NA NA 1 . CCTT . 511.6 NA NA NA NA NA NA NA NA NA 46091682 C18orf25 147339 . GRCh38 chr18 46253736 46253738 + In_Frame_Del DEL CTG CTG - rs34068795 NA HCI-EC-23 NORMAL CTG CTG NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.941_943del p.Ala314del p.A314del ENST00000615052 4/5 NA NA NA NA NA NA C18orf25,inframe_deletion,p.Ala314del,ENST00000615052,NM_145055.5;C18orf25,inframe_deletion,p.Ala253del,ENST00000619301,NM_001008239.2; - ENSG00000152242 ENST00000615052 Transcript inframe_deletion 1305-1307/5456 938-940/1215 313-314/404 SA/S tCTGct/tct rs34068795 1 NA 1 C18orf25 HGNC HGNC:28172 protein_coding YES CCDS42430.1 ENSP00000481626 Q96B23.130 UPI0000071DC1 NM_145055.5 4/5 PANTHER:PTHR16200:SF5,PANTHER:PTHR16200 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 deletion 5 3 NA NA . ATCTGC . 2076.6 NA NA NA NA NA NA NA NA NA 46253735 PIAS2 9063 . GRCh38 chr18 46812546 46812546 + Missense_Mutation SNP T T C novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1753A>G p.Thr585Ala p.T585A ENST00000585916 14/14 NA NA NA NA NA NA PIAS2,missense_variant,p.Thr585Ala,ENST00000585916,NM_004671.5,NM_001354034.2,NM_001354036.2,NM_001324047.2,NM_001324046.2,NM_001324048.2,NM_001354039.2,NM_001354035.2,NM_001354038.2,NM_001324049.2;PIAS2,downstream_gene_variant,,ENST00000324794,NM_173206.4,NM_001324051.2,NM_001324054.2,NM_001354033.2,NM_001324052.2,NM_001324053.2,NM_001324058.2;PIAS2,3_prime_UTR_variant,,ENST00000398654,; C ENSG00000078043 ENST00000585916 Transcript missense_variant 1915/11243 1753/1866 585/621 T/A Acc/Gcc 1 NA -1 PIAS2 HGNC HGNC:17311 protein_coding YES CCDS32824.1 ENSP00000465676 O75928.192 UPI0000201CB9 NM_004671.5,NM_001354034.2,NM_001354036.2,NM_001324047.2,NM_001324046.2,NM_001324048.2,NM_001354039.2,NM_001354035.2,NM_001354038.2,NM_001324049.2 tolerated_low_confidence(0.75) benign(0.005) 14/14 Low_complexity_(Seg):seg,MobiDB_lite:mobidb-lite,PANTHER:PTHR10782,PANTHER:PTHR10782:SF12 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . GTG . 1295.6 NA NA NA NA NA NA NA NA NA 46812546 ELOA3B 0 . GRCh38 chr18 47023235 47023235 + Silent SNP G G A rs1328168870 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.693C>T p.Arg231= p.R231= ENST00000675219 1/1 NA NA NA NA NA NA ELOA3B,synonymous_variant,p.Arg231=,ENST00000675219,NM_001100817.2;KATNAL2,intron_variant,,ENST00000245121,NM_001353903.1,NM_031303.3;KATNAL2,intron_variant,,ENST00000356157,NM_001353899.1,NM_001353900.1,NM_001353901.1,NM_001353902.1,NM_001367621.1;KATNAL2,intron_variant,,ENST00000585469,;KATNAL2,intron_variant,,ENST00000592005,;ELOA3,downstream_gene_variant,,ENST00000674825,NM_145653.3; A ENSG00000288607 ENST00000675219 Transcript synonymous_variant 693/1641 693/1641 231/546 R cgC/cgT rs1328168870 1 NA -1 ELOA3B HGNC HGNC:31007 protein_coding YES CCDS42433.2 ENSP00000501706 Q3SY89.129 UPI00000717BD NM_001100817.2 1/1 PANTHER:PTHR15141,PANTHER:PTHR15141:SF74,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA LOW NA SNV NA NA NA NA . CGC . 192.6 NA NA NA NA NA NA NA NA NA 47023235 KATNAL2 83473 . GRCh38 chr18 47046496 47046496 + Missense_Mutation SNP A A G novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.91A>G p.Ile31Val p.I31V ENST00000356157 2/16 NA NA NA NA NA NA KATNAL2,missense_variant,p.Ile31Val,ENST00000356157,NM_001353899.1,NM_001353900.1,NM_001353901.1,NM_001353902.1,NM_001367621.1;KATNAL2,missense_variant,p.Ile12Val,ENST00000585469,;KATNAL2,intron_variant,,ENST00000245121,NM_001353903.1,NM_031303.3;KATNAL2,intron_variant,,ENST00000592005,; G ENSG00000167216 ENST00000356157 Transcript missense_variant 129/2893 91/1617 31/538 I/V Att/Gtt 1 NA 1 KATNAL2 HGNC HGNC:25387 protein_coding YES ENSP00000348478 Q8IYT4.159 UPI000173AA04 NM_001353899.1,NM_001353900.1,NM_001353901.1,NM_001353902.1,NM_001367621.1 tolerated(1) benign(0.011) 2/16 PROSITE_profiles:PS50896,HAMAP:MF_03025,PANTHER:PTHR23074,PANTHER:PTHR23074:SF78,Pfam:PF08513,SMART:SM00667 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . CAT . 2019.6 NA NA NA NA NA NA NA NA NA 47046496 ZBTB7C 201501 . GRCh38 chr18 48029727 48029727 + Missense_Mutation SNP G G T novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1393C>A p.Arg465Ser p.R465S ENST00000588982 4/4 NA NA NA NA NA NA ZBTB7C,missense_variant,p.Arg465Ser,ENST00000588982,NM_001371285.1;ZBTB7C,missense_variant,p.Arg465Ser,ENST00000590800,NM_001371287.1,NM_001318841.2,NM_001371284.1,NM_001371286.1,NM_001371291.1,NM_001371290.1;ZBTB7C,missense_variant,p.Arg465Ser,ENST00000586438,NM_001371288.1;ZBTB7C,missense_variant,p.Arg465Ser,ENST00000535628,NM_001039360.3; T ENSG00000184828 ENST00000588982 Transcript missense_variant 1895/4949 1393/1860 465/619 R/S Cgc/Agc 1 NA -1 ZBTB7C HGNC HGNC:31700 protein_coding YES CCDS32830.1 ENSP00000468782 A1YPR0.114 B2RG49.99 UPI0000073FE3 NM_001371285.1 deleterious(0.03) probably_damaging(0.991) 4/4 Gene3D:3.30.160.60,Pfam:PF00096,PROSITE_profiles:PS50157,PANTHER:PTHR46105,PANTHER:PTHR46105:SF7,SMART:SM00355,Superfamily:SSF57667 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CGG . 5155.6 NA NA NA NA NA NA NA NA NA 48029727 SMAD7 4092 . GRCh38 chr18 48921487 48921487 + Missense_Mutation SNP G G A rs762653395 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1166C>T p.Pro389Leu p.P389L ENST00000262158 4/4 NA NA NA NA NA NA SMAD7,missense_variant,p.Pro389Leu,ENST00000262158,NM_005904.3;SMAD7,missense_variant,p.Pro388Leu,ENST00000589634,NM_001190821.1;SMAD7,missense_variant,p.Pro174Leu,ENST00000591805,NM_001190822.2;SMAD7,downstream_gene_variant,,ENST00000586093,;SMAD7,non_coding_transcript_exon_variant,,ENST00000587336,;SMAD7,downstream_gene_variant,,ENST00000585986,;SMAD7,downstream_gene_variant,,ENST00000588190,;SMAD7,non_coding_transcript_exon_variant,,ENST00000545051,NM_001190823.1; A ENSG00000101665 ENST00000262158 Transcript missense_variant 2794/4428 1166/1281 389/426 P/L cCg/cTg rs762653395,COSV100053049 1 NA -1 SMAD7 HGNC HGNC:6773 protein_coding YES CCDS11936.1 ENSP00000262158 O15105.201 UPI0000135A83 NM_005904.3 deleterious(0) probably_damaging(0.999) 4/4 Superfamily:SSF49879,SMART:SM00524,Pfam:PF03166,Gene3D:2.60.200.10,PANTHER:PTHR13703:SF44,PANTHER:PTHR13703,CDD:cd10500,PROSITE_profiles:PS51076 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 1 NA 0,1 NA 1 . CGG . 6316.6 1.193e-05 NA NA NA 5.437e-05 NA 1.759e-05 NA NA 48921487 DYM 54808 . GRCh38 chr18 49331999 49331999 + Missense_Mutation SNP A A G novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.628T>C p.Tyr210His p.Y210H ENST00000675505 8/18 NA NA NA NA NA NA DYM,missense_variant,p.Tyr210His,ENST00000675505,NM_001374429.1,NM_001353212.3,NM_001374432.1,NM_001353213.3,NM_001353215.3,NM_001374431.1,NM_001353214.3,NM_001374430.1,NM_001374428.1;DYM,missense_variant,p.Tyr210His,ENST00000269445,NM_001374439.1,NM_001353211.3,NM_001374440.1,NM_001374436.1,NM_001374437.1,NM_001374438.1,NM_001374435.1,NM_001353210.3,NM_001353216.3,NM_001374434.1,NM_017653.6,NM_001374433.1;DYM,missense_variant,p.Tyr55His,ENST00000578396,;DYM,missense_variant,p.Tyr55His,ENST00000583280,;DYM,missense_variant,p.Tyr55His,ENST00000584983,;DYM,missense_variant,p.Tyr55His,ENST00000581738,;DYM,missense_variant,p.Tyr55His,ENST00000583225,;DYM,intron_variant,,ENST00000442713,NM_001374443.1,NM_001374444.1,NM_001374442.1,NM_001374441.1;DYM,non_coding_transcript_exon_variant,,ENST00000580615,;DYM,3_prime_UTR_variant,,ENST00000418472,; G ENSG00000141627 ENST00000675505 Transcript missense_variant 929/10144 628/2175 210/724 Y/H Tac/Cac 1 NA -1 DYM HGNC HGNC:21317 protein_coding YES ENSP00000501694 UPI000387B33F NM_001374429.1,NM_001353212.3,NM_001374432.1,NM_001353213.3,NM_001353215.3,NM_001374431.1,NM_001353214.3,NM_001374430.1,NM_001374428.1 tolerated(0.99) benign(0.003) 8/18 PANTHER:PTHR12895,Pfam:PF09742 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV NA NA NA 1 . TAT . 864.6 NA NA NA NA NA NA NA NA NA 49331999 MEX3C 51320 . GRCh38 chr18 51197238 51197240 + In_Frame_Del DEL GGC GGC - rs553955500 NA HCI-EC-23 NORMAL GGC GGC NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.81_83del p.Pro31del p.P31del ENST00000406189 1/2 NA NA NA NA NA NA MEX3C,inframe_deletion,p.Pro31del,ENST00000406189,NM_016626.5;MEX3C,intron_variant,,ENST00000591040,;MEX3C,upstream_gene_variant,,ENST00000592416,;,regulatory_region_variant,,ENSR00000103367,; - ENSG00000176624 ENST00000406189 Transcript inframe_deletion 442-444/4142 81-83/1980 27-28/659 PP/P ccGCCa/cca rs553955500 1 NA -1 MEX3C HGNC HGNC:28040 protein_coding YES CCDS11951.2 ENSP00000385610 Q5U5Q3.135 UPI00005956CD NM_016626.5 1/2 Low_complexity_(Seg):seg,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite,PANTHER:PTHR23285,PANTHER:PTHR23285:SF8 NA 8e-04 NA NA 0.001 0.001 NA NA NA NA NA NA NA MODERATE 1 deletion 1 NA NA NA . GTGGCG . 40.6 NA NA NA NA NA NA NA NA NA 51197237 MBD2 8932 . GRCh38 chr18 54224357 54224357 + Missense_Mutation SNP C C G rs1173350751 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.203G>C p.Gly68Ala p.G68A ENST00000256429 1/7 NA NA NA NA NA NA MBD2,missense_variant,p.Gly68Ala,ENST00000256429,NM_003927.5;MBD2,missense_variant,p.Gly68Ala,ENST00000398398,;MBD2,missense_variant,p.Gly68Ala,ENST00000583046,NM_015832.5;SNORA37,upstream_gene_variant,,ENST00000384504,;,regulatory_region_variant,,ENSR00000103437,;,TF_binding_site_variant,,ENSM00522750812,; G ENSG00000134046 ENST00000256429 Transcript missense_variant 313/5064 203/1236 68/411 G/A gGc/gCc rs1173350751 1 NA -1 MBD2 HGNC HGNC:6917 protein_coding YES CCDS11953.1 ENSP00000256429 Q9UBB5.180 UPI000003166A NM_003927.5 tolerated_low_confidence(0.2) benign(0) 1/7 Low_complexity_(Seg):seg,MobiDB_lite:mobidb-lite,PANTHER:PTHR12396:SF5,PANTHER:PTHR12396 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . GCC . 57.6 NA NA NA NA NA NA NA NA NA 54224357 TNFRSF11A 8792 . GRCh38 chr18 62384849 62384849 + Nonsense_Mutation SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1666C>T p.Gln556Ter p.Q556* ENST00000586569 10/10 NA NA NA NA NA NA TNFRSF11A,stop_gained,p.Gln556Ter,ENST00000586569,NM_003839.4,NM_001278268.2;TNFRSF11A,stop_gained,p.Gln277Ter,ENST00000617039,NM_001270950.1;TNFRSF11A,stop_gained,p.Gln239Ter,ENST00000269485,NM_001270951.2;TNFRSF11A,3_prime_UTR_variant,,ENST00000616710,NM_001270949.1; T ENSG00000141655 ENST00000586569 Transcript stop_gained 1709/8148 1666/1851 556/616 Q/* Cag/Tag 1 NA 1 TNFRSF11A HGNC HGNC:11908 protein_coding YES CCDS11980.1 ENSP00000465500 Q9Y6Q6.174 UPI000003BC8A NM_003839.4,NM_001278268.2 10/10 MobiDB_lite:mobidb-lite,PANTHER:PTHR47134 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 SNV 1 NA NA 1 . GCA . 2759.6 NA NA NA NA NA NA NA NA NA 62384849 ZCCHC2 54877 . GRCh38 chr18 62523553 62523554 + In_Frame_Ins INS - - CCG rs563687016 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.147_149dup p.Pro50dup p.P50dup ENST00000269499 1/14 NA NA NA NA NA NA ZCCHC2,inframe_insertion,p.Pro50dup,ENST00000269499,NM_017742.6;ZCCHC2,upstream_gene_variant,,ENST00000588676,;ZCCHC2,upstream_gene_variant,,ENST00000621048,;AC064801.1,downstream_gene_variant,,ENST00000612025,;ZCCHC2,upstream_gene_variant,,ENST00000591632,;ZCCHC2,upstream_gene_variant,,ENST00000585873,;,regulatory_region_variant,,ENSR00000104377,;,TF_binding_site_variant,,ENSM00000550618,; CCG ENSG00000141664 ENST00000269499 Transcript inframe_insertion 529-530/5937 129-130/3537 43-44/1178 -/P -/CCG rs563687016 1 NA 1 ZCCHC2 HGNC HGNC:22916 protein_coding YES CCDS45880.1 ENSP00000269499 Q9C0B9.146 UPI00016D385A NM_017742.6 1/14 PANTHER:PTHR46939,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA 0.615 0.5202 NA 0.3948 0.6392 0.4479 NA NA NA NA NA NA MODERATE 1 insertion 5 20 NA NA . CCC . 70.64 NA NA NA NA NA NA NA NA NA 62523553 PHLPP1 23239 . GRCh38 chr18 62972653 62972654 + Frame_Shift_Ins INS - - A novel NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3706dup p.Thr1236AsnfsTer38 p.T1236Nfs*38 ENST00000262719 15/17 NA NA NA NA NA NA PHLPP1,frameshift_variant,p.Thr1236AsnfsTer38,ENST00000262719,NM_194449.4; A ENSG00000081913 ENST00000262719 Transcript frameshift_variant 3843-3844/6299 3700-3701/5154 1234/1717 Q/QX caa/cAaa 1 NA 1 PHLPP1 HGNC HGNC:20610 protein_coding YES CCDS45881.2 ENSP00000262719 O60346.183 UPI000051AE2E NM_194449.4 15/17 Gene3D:3.60.40.10,Pfam:PF00481,PROSITE_profiles:PS51746,PANTHER:PTHR45752,PANTHER:PTHR45752:SF58,SMART:SM00332,Superfamily:SSF81606,CDD:cd00143 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 insertion 1 6 NA NA . GCA . 3010.64 NA NA NA NA NA NA NA NA NA 62972653 SERPINB2 5055 . GRCh38 chr18 63895297 63895297 + Missense_Mutation SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.202G>A p.Val68Ile p.V68I ENST00000457692 4/9 NA NA NA NA NA NA SERPINB2,missense_variant,p.Val68Ile,ENST00000457692,NM_001143818.1;SERPINB2,missense_variant,p.Val68Ile,ENST00000299502,NM_002575.3;SERPINB2,missense_variant,p.Val68Ile,ENST00000413956,;SERPINB2,missense_variant,p.Val68Ile,ENST00000443281,;SERPINB2,missense_variant,p.Val68Ile,ENST00000404622,;SERPINB10,upstream_gene_variant,,ENST00000397996,;SERPINB10,upstream_gene_variant,,ENST00000418725,;SERPINB2,non_coding_transcript_exon_variant,,ENST00000482254,; A ENSG00000197632 ENST00000457692 Transcript missense_variant 535/2155 202/1248 68/415 V/I Gtt/Att 1 NA 1 SERPINB2 HGNC HGNC:8584 protein_coding YES CCDS11989.1 ENSP00000401645 P05120.207 UPI000002BB06 NM_001143818.1 tolerated(0.49) benign(0.005) 4/9 PDB-ENSP_mappings:1by7.A,PDB-ENSP_mappings:1jrr.A,PDB-ENSP_mappings:2arq.A,PDB-ENSP_mappings:2arr.A,CDD:cd02058,PANTHER:PTHR11461:SF61,PANTHER:PTHR11461,Pfam:PF00079,Gene3D:3.30.497.10,SMART:SM00093,Superfamily:SSF56574 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . AGT . 2605.6 NA NA NA NA NA NA NA NA NA 63895297 DSEL 92126 . GRCh38 chr18 67511734 67511734 + Frame_Shift_Del DEL T T - novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2905del p.Arg969GlufsTer16 p.R969Efs*16 ENST00000310045 2/2 NA NA NA NA NA NA DSEL,frameshift_variant,p.Arg969GlufsTer16,ENST00000310045,NM_032160.3;AC110597.3,non_coding_transcript_exon_variant,,ENST00000583493,;AC110597.3,downstream_gene_variant,,ENST00000581951,;AC114689.3,upstream_gene_variant,,ENST00000583687,;,regulatory_region_variant,,ENSR00001019742,; - ENSG00000171451 ENST00000310045 Transcript frameshift_variant 4119/9266 2905/3669 969/1222 R/X Aga/ga 1 NA -1 DSEL HGNC HGNC:18144 protein_coding YES CCDS11995.1 ENSP00000310565 Q8IZU8.116 UPI00000740A1 NM_032160.3 2/2 Pfam:PF00685,PANTHER:PTHR15532,PANTHER:PTHR15532:SF2,Superfamily:SSF52540 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH NA deletion 2 NA NA NA . TCTT . 2093.6 NA NA NA NA NA NA NA NA NA 67511733 RTTN 25914 . GRCh38 chr18 70020642 70020642 + Silent SNP C C T rs773034780 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.6126G>A p.Ser2042= p.S2042= ENST00000640769 45/49 NA NA NA NA NA NA RTTN,synonymous_variant,p.Ser2042=,ENST00000640769,NM_173630.4;RTTN,synonymous_variant,p.Ser2042=,ENST00000255674,;RTTN,synonymous_variant,p.Ser1175=,ENST00000677824,NM_001318520.2;RTTN,synonymous_variant,p.Ser211=,ENST00000578780,;RTTN,non_coding_transcript_exon_variant,,ENST00000583765,;RTTN,upstream_gene_variant,,ENST00000579021,;RTTN,3_prime_UTR_variant,,ENST00000581161,;RTTN,3_prime_UTR_variant,,ENST00000583043,;RTTN,3_prime_UTR_variant,,ENST00000679113,;RTTN,3_prime_UTR_variant,,ENST00000639487,;RTTN,3_prime_UTR_variant,,ENST00000579986,;RTTN,non_coding_transcript_exon_variant,,ENST00000639128,;RTTN,non_coding_transcript_exon_variant,,ENST00000640525,;RTTN,non_coding_transcript_exon_variant,,ENST00000580034,;,regulatory_region_variant,,ENSR00001019891,; T ENSG00000176225 ENST00000640769 Transcript synonymous_variant 6155/7830 6126/6681 2042/2226 S tcG/tcA rs773034780,COSV55347700 1 NA -1 RTTN HGNC HGNC:18654 protein_coding YES CCDS42443.1 ENSP00000491507 Q86VV8.124 UPI0000201E92 NM_173630.4 45/49 Gene3D:1.25.10.10,PANTHER:PTHR31691,Superfamily:SSF48371 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA LOW 1 SNV 2 NA 0,1 NA 1 . GCG . 578.6 2.81e-05 NA NA NA 0.0001669 NA 8.851e-06 NA 9.81e-05 70020642 RTTN 25914 . GRCh38 chr18 70030092 70030092 + Missense_Mutation SNP A A G novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.5665T>C p.Cys1889Arg p.C1889R ENST00000640769 42/49 NA NA NA NA NA NA RTTN,missense_variant,p.Cys1889Arg,ENST00000640769,NM_173630.4;RTTN,missense_variant,p.Cys1889Arg,ENST00000255674,;RTTN,missense_variant,p.Cys1022Arg,ENST00000677824,NM_001318520.2;RTTN,missense_variant,p.Cys58Arg,ENST00000578780,;RTTN,upstream_gene_variant,,ENST00000583765,;RTTN,3_prime_UTR_variant,,ENST00000581161,;RTTN,3_prime_UTR_variant,,ENST00000583043,;RTTN,3_prime_UTR_variant,,ENST00000679113,;RTTN,3_prime_UTR_variant,,ENST00000639487,;RTTN,3_prime_UTR_variant,,ENST00000579986,;RTTN,non_coding_transcript_exon_variant,,ENST00000639128,; G ENSG00000176225 ENST00000640769 Transcript missense_variant 5694/7830 5665/6681 1889/2226 C/R Tgc/Cgc 1 NA -1 RTTN HGNC HGNC:18654 protein_coding YES CCDS42443.1 ENSP00000491507 Q86VV8.124 UPI0000201E92 NM_173630.4 deleterious(0) probably_damaging(1) 42/49 Gene3D:1.25.10.10,PANTHER:PTHR31691,Superfamily:SSF48371 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 2 NA NA 1 . CAA . 2960.6 NA NA NA NA NA NA NA NA NA 70030092 NETO1 81832 . GRCh38 chr18 72783743 72783743 + Missense_Mutation SNP C C T rs370635787 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.803G>A p.Arg268His p.R268H ENST00000327305 7/11 NA NA NA NA NA NA NETO1,missense_variant,p.Arg268His,ENST00000327305,NM_001354017.2,NM_138966.5,NM_001354020.1;NETO1,missense_variant,p.Arg268His,ENST00000583169,NM_001201465.3,NM_001354018.2;NETO1,downstream_gene_variant,,ENST00000579730,; T ENSG00000166342 ENST00000327305 Transcript missense_variant 1499/6721 803/1602 268/533 R/H cGc/cAc rs370635787 1 NA -1 NETO1 HGNC HGNC:13823 protein_coding YES CCDS12000.1 ENSP00000313088 Q8TDF5.156 A0A024R375.55 UPI000013E59E NM_001354017.2,NM_138966.5,NM_001354020.1 deleterious(0) possibly_damaging(0.642) 7/11 PROSITE_profiles:PS01180,CDD:cd00041,PANTHER:PTHR45645,PANTHER:PTHR45645:SF3,Gene3D:2.60.120.290,Pfam:PF00431,SMART:SM00042,Superfamily:SSF49854 NA NA NA NA NA NA NA NA 0.0001163 NA NA NA NA MODERATE 1 SNV 1 NA NA NA . GCG . 1912.6 7.954e-06 NA NA NA NA NA 1.758e-05 NA NA 72783743 C18orf63 644041 . GRCh38 chr18 74353279 74353279 + Frame_Shift_Del DEL A A - novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1018del p.Met340CysfsTer6 p.M340Cfs*6 ENST00000579455 12/14 NA NA NA NA NA NA C18orf63,frameshift_variant,p.Met340CysfsTer6,ENST00000579455,NM_001174123.2;,regulatory_region_variant,,ENSR00000286675,;,regulatory_region_variant,,ENSR00000580009,; - ENSG00000206043 ENST00000579455 Transcript frameshift_variant 1315/5103 1012/2058 338/685 K/X Aaa/aa 1 NA 1 C18orf63 HGNC HGNC:40037 protein_coding YES CCDS54189.1 ENSP00000464330 Q68DL7.88 UPI00006C192C NM_001174123.2 12/14 PANTHER:PTHR28495 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 6 NA NA . CTAA . 1585.6 NA NA NA NA NA NA NA NA NA 74353278 ZNF407 55628 . GRCh38 chr18 74633792 74633792 + Frame_Shift_Del DEL G G - rs144140002 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2777del p.Gly926ValfsTer14 p.G926Vfs*14 ENST00000299687 1/8 NA NA NA NA NA NA ZNF407,frameshift_variant,p.Gly926ValfsTer14,ENST00000299687,NM_017757.2;ZNF407,frameshift_variant,p.Gly926ValfsTer14,ENST00000577538,NM_001146189.1;ZNF407,frameshift_variant,p.Gly926ValfsTer14,ENST00000582337,;ZNF407,frameshift_variant,p.Gly926ValfsTer14,ENST00000309902,NM_001146190.1; - ENSG00000215421 ENST00000299687 Transcript frameshift_variant 2773/7948 2773/6747 925/2248 G/X Ggg/gg rs144140002 1 NA 1 ZNF407 HGNC HGNC:19904 protein_coding YES CCDS45885.1 ENSP00000299687 Q9C0G0.147 UPI0000F58ED1 NM_017757.2 1/8 MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 4 NA NA . AAGG . 16658.6 NA NA NA NA NA NA NA NA NA 74633791 ZNF407 55628 . GRCh38 chr18 75063835 75063835 + Silent SNP C C T rs756928159 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.6114C>T p.Pro2038= p.P2038= ENST00000299687 8/8 NA NA NA NA NA NA ZNF407,synonymous_variant,p.Pro2038=,ENST00000299687,NM_017757.2;ZNF407,downstream_gene_variant,,ENST00000582214,;ZNF407,non_coding_transcript_exon_variant,,ENST00000579200,; T ENSG00000215421 ENST00000299687 Transcript synonymous_variant 6114/7948 6114/6747 2038/2248 P ccC/ccT rs756928159,COSV100224555 1 NA 1 ZNF407 HGNC HGNC:19904 protein_coding YES CCDS45885.1 ENSP00000299687 Q9C0G0.147 UPI0000F58ED1 NM_017757.2 8/8 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA LOW 1 SNV 1 NA 0,1 NA NA . CCG . 2717.6 4.934e-05 6.654e-05 8.719e-05 NA 0.0003361 NA 1.81e-05 NA NA 75063835 SALL3 27164 . GRCh38 chr18 78992889 78992889 + Missense_Mutation SNP A A G rs1030467060 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.898A>G p.Ser300Gly p.S300G ENST00000537592 2/3 NA NA NA NA NA NA SALL3,missense_variant,p.Ser300Gly,ENST00000537592,NM_171999.3;SALL3,missense_variant,p.Ser167Gly,ENST00000536229,;SALL3,missense_variant,p.Ser300Gly,ENST00000575389,;SALL3,intron_variant,,ENST00000616649,;SALL3,upstream_gene_variant,,ENST00000573324,;SALL3,downstream_gene_variant,,ENST00000572928,; G ENSG00000256463 ENST00000537592 Transcript missense_variant 898/6555 898/3903 300/1300 S/G Agc/Ggc rs1030467060 1 NA 1 SALL3 HGNC HGNC:10527 protein_coding YES CCDS12013.1 ENSP00000441823 Q9BXA9.169 A0A384MEH2.9 UPI000013E5A7 NM_171999.3 tolerated(0.39) benign(0.003) 2/3 PANTHER:PTHR23233,PANTHER:PTHR23233:SF46,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . CAG . 46.6 NA NA NA NA NA NA NA NA NA 78992889 ATP9B 374868 . GRCh38 chr18 79113285 79113285 + Silent SNP A A G rs1297279750 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.489A>G p.Leu163= p.L163= ENST00000426216 4/30 NA NA NA NA NA NA ATP9B,synonymous_variant,p.Leu163=,ENST00000426216,NM_198531.5;ATP9B,synonymous_variant,p.Leu163=,ENST00000307671,NM_001306085.2;ATP9B,synonymous_variant,p.Leu163=,ENST00000586722,;ATP9B,synonymous_variant,p.Leu111=,ENST00000458297,;ATP9B,synonymous_variant,p.Leu105=,ENST00000586672,;AC125437.1,upstream_gene_variant,,ENST00000586389,;ATP9B,intron_variant,,ENST00000591464,;ATP9B,synonymous_variant,p.Leu163=,ENST00000586366,;ATP9B,non_coding_transcript_exon_variant,,ENST00000590271,;ATP9B,upstream_gene_variant,,ENST00000490210,; G ENSG00000166377 ENST00000426216 Transcript synonymous_variant 506/4361 489/3444 163/1147 L ctA/ctG rs1297279750 1 NA 1 ATP9B HGNC HGNC:13541 protein_coding YES CCDS12014.1 ENSP00000398076 O43861.176 UPI00002371AF NM_198531.5 4/30 CDD:cd07541,PANTHER:PTHR24092:SF50,PANTHER:PTHR24092,TIGRFAM:TIGR01652,Pfam:PF16209,Superfamily:SSF81665 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . TAG . 52.6 NA NA NA NA NA NA NA NA NA 79113285 ATP9B 374868 . GRCh38 chr18 79113289 79113289 + Missense_Mutation SNP A A G NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.493A>G p.Ile165Val p.I165V ENST00000426216 4/30 NA NA NA NA NA NA ATP9B,missense_variant,p.Ile165Val,ENST00000426216,NM_198531.5;ATP9B,missense_variant,p.Ile165Val,ENST00000307671,NM_001306085.2;ATP9B,missense_variant,p.Ile165Val,ENST00000586722,;ATP9B,missense_variant,p.Ile113Val,ENST00000458297,;ATP9B,missense_variant,p.Ile107Val,ENST00000586672,;AC125437.1,upstream_gene_variant,,ENST00000586389,;ATP9B,intron_variant,,ENST00000591464,;ATP9B,missense_variant,p.Ile165Val,ENST00000586366,;ATP9B,non_coding_transcript_exon_variant,,ENST00000590271,;ATP9B,upstream_gene_variant,,ENST00000490210,; G ENSG00000166377 ENST00000426216 Transcript missense_variant 510/4361 493/3444 165/1147 I/V Ata/Gta COSV100302818 1 NA 1 ATP9B HGNC HGNC:13541 protein_coding YES CCDS12014.1 ENSP00000398076 O43861.176 UPI00002371AF NM_198531.5 tolerated(1) benign(0) 4/30 CDD:cd07541,PANTHER:PTHR24092:SF50,PANTHER:PTHR24092,TIGRFAM:TIGR01652,Pfam:PF16209,Superfamily:SSF81665 NA NA NA NA NA NA NA NA NA 1 NA NA NA NA MODERATE 1 SNV 5 NA 1 NA NA . AAT . 52.6 NA NA NA NA NA NA NA NA NA 79113289 ATP9B 374868 . GRCh38 chr18 79113291 79113291 + Missense_Mutation SNP A A G novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.495A>G p.Ile165Met p.I165M ENST00000426216 4/30 NA NA NA NA NA NA ATP9B,missense_variant,p.Ile165Met,ENST00000426216,NM_198531.5;ATP9B,missense_variant,p.Ile165Met,ENST00000307671,NM_001306085.2;ATP9B,missense_variant,p.Ile165Met,ENST00000586722,;ATP9B,missense_variant,p.Ile113Met,ENST00000458297,;ATP9B,missense_variant,p.Ile107Met,ENST00000586672,;AC125437.1,upstream_gene_variant,,ENST00000586389,;ATP9B,intron_variant,,ENST00000591464,;ATP9B,missense_variant,p.Ile165Met,ENST00000586366,;ATP9B,non_coding_transcript_exon_variant,,ENST00000590271,;ATP9B,upstream_gene_variant,,ENST00000490210,; G ENSG00000166377 ENST00000426216 Transcript missense_variant 512/4361 495/3444 165/1147 I/M atA/atG 1 NA 1 ATP9B HGNC HGNC:13541 protein_coding YES CCDS12014.1 ENSP00000398076 O43861.176 UPI00002371AF NM_198531.5 tolerated(0.31) benign(0.001) 4/30 CDD:cd07541,PANTHER:PTHR24092:SF50,PANTHER:PTHR24092,TIGRFAM:TIGR01652,Pfam:PF16209,Superfamily:SSF81665 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . TAT . 52.6 NA NA NA NA NA NA NA NA NA 79113291 ATP9B 374868 . GRCh38 chr18 79113324 79113324 + Silent SNP A A T novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.528A>T p.Ile176= p.I176= ENST00000426216 4/30 NA NA NA NA NA NA ATP9B,synonymous_variant,p.Ile176=,ENST00000426216,NM_198531.5;ATP9B,synonymous_variant,p.Ile176=,ENST00000307671,NM_001306085.2;ATP9B,synonymous_variant,p.Ile176=,ENST00000586722,;ATP9B,synonymous_variant,p.Ile124=,ENST00000458297,;ATP9B,synonymous_variant,p.Ile118=,ENST00000586672,;AC125437.1,upstream_gene_variant,,ENST00000586389,;ATP9B,intron_variant,,ENST00000591464,;ATP9B,synonymous_variant,p.Ile176=,ENST00000586366,;ATP9B,non_coding_transcript_exon_variant,,ENST00000490210,;ATP9B,non_coding_transcript_exon_variant,,ENST00000590271,; T ENSG00000166377 ENST00000426216 Transcript synonymous_variant 545/4361 528/3444 176/1147 I atA/atT 1 NA 1 ATP9B HGNC HGNC:13541 protein_coding YES CCDS12014.1 ENSP00000398076 O43861.176 UPI00002371AF NM_198531.5 4/30 CDD:cd07541,PANTHER:PTHR24092:SF50,PANTHER:PTHR24092,TIGRFAM:TIGR01652,Pfam:PF16209,Superfamily:SSF81665 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . TAG . 44.6 NA NA NA NA NA NA NA NA NA 79113324 ATP9B 374868 . GRCh38 chr18 79113330 79113330 + Silent SNP T T C novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.534T>C p.Tyr178= p.Y178= ENST00000426216 4/30 NA NA NA NA NA NA ATP9B,synonymous_variant,p.Tyr178=,ENST00000426216,NM_198531.5;ATP9B,synonymous_variant,p.Tyr178=,ENST00000307671,NM_001306085.2;ATP9B,synonymous_variant,p.Tyr178=,ENST00000586722,;ATP9B,synonymous_variant,p.Tyr126=,ENST00000458297,;ATP9B,synonymous_variant,p.Tyr120=,ENST00000586672,;AC125437.1,upstream_gene_variant,,ENST00000586389,;ATP9B,intron_variant,,ENST00000591464,;ATP9B,synonymous_variant,p.Tyr178=,ENST00000586366,;ATP9B,non_coding_transcript_exon_variant,,ENST00000490210,;ATP9B,non_coding_transcript_exon_variant,,ENST00000590271,; C ENSG00000166377 ENST00000426216 Transcript synonymous_variant 551/4361 534/3444 178/1147 Y taT/taC 1 NA 1 ATP9B HGNC HGNC:13541 protein_coding YES CCDS12014.1 ENSP00000398076 O43861.176 UPI00002371AF NM_198531.5 4/30 CDD:cd07541,PANTHER:PTHR24092:SF50,PANTHER:PTHR24092,TIGRFAM:TIGR01652,Pfam:PF16209,Superfamily:SSF81665 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . ATC . 47.6 NA NA NA NA NA NA NA NA NA 79113330 ATP9B 374868 . GRCh38 chr18 79277074 79277074 + Missense_Mutation SNP T T C rs1193584368 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1289T>C p.Met430Thr p.M430T ENST00000426216 13/30 NA NA NA NA NA NA ATP9B,missense_variant,p.Met430Thr,ENST00000426216,NM_198531.5;ATP9B,missense_variant,p.Met430Thr,ENST00000307671,NM_001306085.2;ATP9B,missense_variant,p.Met378Thr,ENST00000458297,;ATP9B,3_prime_UTR_variant,,ENST00000587878,;ATP9B,non_coding_transcript_exon_variant,,ENST00000490210,;ATP9B,non_coding_transcript_exon_variant,,ENST00000590271,;ATP9B,non_coding_transcript_exon_variant,,ENST00000585674,; C ENSG00000166377 ENST00000426216 Transcript missense_variant 1306/4361 1289/3444 430/1147 M/T aTg/aCg rs1193584368,COSV56946590 1 NA 1 ATP9B HGNC HGNC:13541 protein_coding YES CCDS12014.1 ENSP00000398076 O43861.176 UPI00002371AF NM_198531.5 deleterious(0) probably_damaging(0.959) 13/30 CDD:cd07541,PANTHER:PTHR24092:SF50,PANTHER:PTHR24092,TIGRFAM:TIGR01652,TIGRFAM:TIGR01494,Superfamily:SSF81665 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 5 NA 0,1 NA NA . ATG . 2554.6 3.976e-06 NA NA NA NA NA 8.79e-06 NA NA 79277074 MADCAM1 8174 . GRCh38 chr19 501743 501744 + In_Frame_Ins INS - - CTCCCGACACCACCTCCCAGGAGCCTCCCGACACCACCTCCCAGGAGC rs1555716199 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.856_857insAGGAGCCTCCCGACACCACCTCCCAGGAGCCTCCCGACACCACCTCCC p.Ser285_Pro286insGlnGluProProAspThrThrSerGlnGluProProAspThrThrSer p.S285_P286insQEPPDTTSQEPPDTTS ENST00000613880 6/7 NA NA NA NA NA NA MADCAM1,inframe_insertion,p.Ser42_Pro43insGlnGluProProAspThrThrSerGlnGluProProAspThrThrSer,ENST00000587541,;MADCAM1,inframe_insertion,p.Ser261_Pro262insGlnGluProProAspThrThrSerGlnGluProProAspThrThrSer,ENST00000215637,NM_130760.3;MADCAM1,inframe_insertion,p.Ser285_Pro286insGlnGluProProAspThrThrSerGlnGluProProAspThrThrSer,ENST00000613880,;MADCAM1,inframe_insertion,p.Ser277_Pro278insGlnGluProProAspThrThrSerGlnGluProProAspThrThrSer,ENST00000619333,;MADCAM1,inframe_insertion,p.Ser269_Pro270insGlnGluProProAspThrThrSerGlnGluProProAspThrThrSer,ENST00000622462,;MADCAM1,inframe_insertion,p.Ser279_Pro280insGlnGluProProAspThrThrSerGlnGluProProAspThrThrSer,ENST00000621286,;MADCAM1,intron_variant,,ENST00000346144,NM_130762.3;MADCAM1,intron_variant,,ENST00000382683,;AC005775.1,intron_variant,,ENST00000592413,;MADCAM1,downstream_gene_variant,,ENST00000622449,; CTCCCGACACCACCTCCCAGGAGCCTCCCGACACCACCTCCCAGGAGC ENSG00000099866 ENST00000613880 Transcript inframe_insertion 860-861/1509 814-815/1221 272/406 S/SPDTTSQEPPDTTSQEP tct/tCTCCCGACACCACCTCCCAGGAGCCTCCCGACACCACCTCCCAGGAGCct rs1555716199 1 NA 1 MADCAM1 HGNC HGNC:6765 protein_coding YES ENSP00000480908 A0A087WXC9.32 UPI00015DF8C8 6/7 PANTHER:PTHR14162,PANTHER:PTHR14162,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 insertion 5 42 NA NA . GTC . 642.64 NA NA NA NA NA NA NA NA NA 501743 BSG 682 . GRCh38 chr19 581327 581327 + Missense_Mutation SNP G G A rs1333894446 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.805G>A p.Gly269Ser p.G269S ENST00000333511 6/9 NA NA NA NA NA NA BSG,missense_variant,p.Gly269Ser,ENST00000333511,NM_001728.4;BSG,missense_variant,p.Gly60Ser,ENST00000545507,NM_198590.3;BSG,missense_variant,p.Gly89Ser,ENST00000346916,NM_198591.3;BSG,missense_variant,p.Gly153Ser,ENST00000353555,NM_198589.3,NM_001322243.2;BSG,missense_variant,p.Gly73Ser,ENST00000618006,;BSG,missense_variant,p.Gly150Ser,ENST00000613627,;BSG,missense_variant,p.Gly60Ser,ENST00000573784,;BSG,missense_variant,p.Gly145Ser,ENST00000573216,;BSG,intron_variant,,ENST00000614867,;BSG,downstream_gene_variant,,ENST00000576984,;BSG,downstream_gene_variant,,ENST00000574970,;BSG,non_coding_transcript_exon_variant,,ENST00000571735,;BSG,intron_variant,,ENST00000618112,;BSG,downstream_gene_variant,,ENST00000572899,;BSG,downstream_gene_variant,,ENST00000576925,;BSG,downstream_gene_variant,,ENST00000590218,; A ENSG00000172270 ENST00000333511 Transcript missense_variant 844/1946 805/1158 269/385 G/S Ggc/Agc rs1333894446 1 NA 1 BSG HGNC HGNC:1116 protein_coding YES CCDS12033.1 ENSP00000333769 P35613.215 UPI0000051E38 NM_001728.4 tolerated(0.24) benign(0.153) 6/9 PDB-ENSP_mappings:3b5h.A,PDB-ENSP_mappings:3b5h.B,PDB-ENSP_mappings:3b5h.C,PDB-ENSP_mappings:3b5h.D,PDB-ENSP_mappings:4u0q.B,PDB-ENSP_mappings:4u0q.D,PDB-ENSP_mappings:5xf0.A,PROSITE_profiles:PS50835,PANTHER:PTHR10075:SF5,PANTHER:PTHR10075,Pfam:PF13927,Gene3D:2.60.40.10,SMART:SM00409,SMART:SM00408,Superfamily:SSF48726 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . CGG . 3624.6 NA NA NA NA NA NA NA NA NA 581327 MISP 126353 . GRCh38 chr19 763569 763569 + Silent SNP C C T rs150909199 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2019C>T p.Tyr673= p.Y673= ENST00000215582 5/5 NA NA NA NA NA NA MISP,synonymous_variant,p.Tyr673=,ENST00000215582,NM_173481.4;MISP,downstream_gene_variant,,ENST00000614180,; T ENSG00000099812 ENST00000215582 Transcript synonymous_variant 2136/2885 2019/2040 673/679 Y taC/taT rs150909199 1 NA 1 MISP HGNC HGNC:27000 protein_coding YES CCDS12042.1 ENSP00000215582 Q8IVT2.138 UPI00000745CD NM_173481.4 5/5 Pfam:PF15304,PANTHER:PTHR18839,PANTHER:PTHR18839:SF3 NA NA NA NA NA NA NA NA 0.0001163 NA NA NA NA LOW 1 SNV 1 NA NA NA . ACG . 4341.6 1.598e-05 NA NA NA 5.446e-05 NA 1.771e-05 NA 3.268e-05 763569 ARID3A 1820 . GRCh38 chr19 929631 929631 + Frame_Shift_Del DEL C C - rs1176709997 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.108del p.Gly37AlafsTer87 p.G37Afs*87 ENST00000263620 2/9 NA NA NA NA NA NA ARID3A,frameshift_variant,p.Gly37AlafsTer87,ENST00000263620,NM_005224.3;ARID3A,upstream_gene_variant,,ENST00000587532,;AC005379.1,upstream_gene_variant,,ENST00000585647,;ARID3A,downstream_gene_variant,,ENST00000585895,;ARID3A,downstream_gene_variant,,ENST00000592216,;ARID3A,upstream_gene_variant,,ENST00000457152,; - ENSG00000116017 ENST00000263620 Transcript frameshift_variant 395/5948 103/1782 35/593 P/X Ccc/cc rs1176709997 1 NA 1 ARID3A HGNC HGNC:3031 protein_coding YES CCDS12050.1 ENSP00000263620 Q99856.177 UPI0000129881 NM_005224.3 2/9 PANTHER:PTHR15348,PANTHER:PTHR15348:SF1,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 5 NA NA . CACC . 2055.6 4.081e-05 0.0002041 NA NA 0.0001041 NA 4.414e-05 NA 4.555e-05 929630 ARID3A 1820 . GRCh38 chr19 971946 971946 + Missense_Mutation SNP G G A rs572708769 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1663G>A p.Gly555Ser p.G555S ENST00000263620 9/9 NA NA NA NA NA NA ARID3A,missense_variant,p.Gly555Ser,ENST00000263620,NM_005224.3;ARID3A,missense_variant,p.Gly303Ser,ENST00000587532,;ARID3A,downstream_gene_variant,,ENST00000590749,; A ENSG00000116017 ENST00000263620 Transcript missense_variant 1955/5948 1663/1782 555/593 G/S Ggc/Agc rs572708769,COSV55043308 1 NA 1 ARID3A HGNC HGNC:3031 protein_coding YES CCDS12050.1 ENSP00000263620 Q99856.177 UPI0000129881 NM_005224.3 tolerated_low_confidence(0.54) benign(0) 9/9 PANTHER:PTHR15348,PANTHER:PTHR15348:SF1,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg 2e-04 NA NA NA NA 0.001 NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 1 NA 0,1 NA NA . CGG . 1447.6 3.931e-05 7.363e-05 9.746e-05 NA 6.416e-05 NA 3.854e-05 NA NA 971946 ABCA7 10347 . GRCh38 chr19 1052270 1052270 + Silent SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3204C>T p.Ser1068= p.S1068= ENST00000263094 23/47 NA NA NA NA NA NA ABCA7,synonymous_variant,p.Ser1068=,ENST00000263094,NM_019112.4;ABCA7,upstream_gene_variant,,ENST00000525073,;ABCA7,downstream_gene_variant,,ENST00000533574,;ABCA7,synonymous_variant,p.Ser225=,ENST00000435683,;ABCA7,non_coding_transcript_exon_variant,,ENST00000433129,;ABCA7,upstream_gene_variant,,ENST00000529442,;ABCA7,upstream_gene_variant,,ENST00000530092,;ABCA7,upstream_gene_variant,,ENST00000673773,; T ENSG00000064687 ENST00000263094 Transcript synonymous_variant 3431/6815 3204/6441 1068/2146 S agC/agT 1 NA 1 ABCA7 HGNC HGNC:37 protein_coding YES CCDS12055.1 ENSP00000263094 Q8IZY2.145 UPI000013D3A4 NM_019112.4 23/47 PANTHER:PTHR19229,PANTHER:PTHR19229:SF49,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA 1 . GCC . 6672.6 NA NA NA NA NA NA NA NA NA 1052270 ARHGAP45 23526 . GRCh38 chr19 1079759 1079759 + Silent SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1512G>A p.Lys504= p.K504= ENST00000590214 12/23 NA NA NA NA NA NA ARHGAP45,synonymous_variant,p.Lys477=,ENST00000313093,NM_012292.4;ARHGAP45,synonymous_variant,p.Lys504=,ENST00000590214,;ARHGAP45,synonymous_variant,p.Lys493=,ENST00000539243,NM_001258328.3;ARHGAP45,synonymous_variant,p.Lys481=,ENST00000586866,NM_001321232.1;ARHGAP45,synonymous_variant,p.Lys360=,ENST00000543365,NM_001282335.2;ARHGAP45,synonymous_variant,p.Lys112=,ENST00000590577,NM_001282334.1;ARHGAP45,upstream_gene_variant,,ENST00000590512,;ARHGAP45,3_prime_UTR_variant,,ENST00000587602,;ARHGAP45,intron_variant,,ENST00000591293,;ARHGAP45,upstream_gene_variant,,ENST00000586378,;ARHGAP45,upstream_gene_variant,,ENST00000586937,;ARHGAP45,upstream_gene_variant,,ENST00000591169,;ARHGAP45,upstream_gene_variant,,ENST00000592297,; A ENSG00000180448 ENST00000590214 Transcript synonymous_variant 1591/4191 1512/3492 504/1163 K aaG/aaA 1 NA 1 ARHGAP45 HGNC HGNC:17102 protein_coding YES ENSP00000466401 K7EM85.67 UPI0002840A04 12/23 Gene3D:1.20.1270.60,Coiled-coils_(Ncoils):Coil,PROSITE_profiles:PS51741,PANTHER:PTHR15228,PANTHER:PTHR15228:SF18,Superfamily:SSF103657 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . AGC . 3645.6 NA NA NA NA NA NA NA NA NA 1079759 PCSK4 54760 . GRCh38 chr19 1483861 1483861 + Missense_Mutation SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1250G>A p.Arg417Lys p.R417K ENST00000300954 10/15 NA NA NA NA NA NA PCSK4,missense_variant,p.Arg417Lys,ENST00000300954,NM_017573.4;C19orf25,upstream_gene_variant,,ENST00000427685,;C19orf25,upstream_gene_variant,,ENST00000436106,;C19orf25,upstream_gene_variant,,ENST00000585675,NM_152482.3;C19orf25,upstream_gene_variant,,ENST00000586564,;C19orf25,upstream_gene_variant,,ENST00000588427,;PCSK4,downstream_gene_variant,,ENST00000588671,;C19orf25,upstream_gene_variant,,ENST00000588849,;C19orf25,upstream_gene_variant,,ENST00000588871,;C19orf25,upstream_gene_variant,,ENST00000590621,;C19orf25,upstream_gene_variant,,ENST00000591027,;C19orf25,upstream_gene_variant,,ENST00000592872,;C19orf25,upstream_gene_variant,,ENST00000651077,;PCSK4,downstream_gene_variant,,ENST00000587784,;PCSK4,downstream_gene_variant,,ENST00000590057,;PCSK4,downstream_gene_variant,,ENST00000591687,;C19orf25,upstream_gene_variant,,ENST00000592605,;PCSK4,3_prime_UTR_variant,,ENST00000591201,;PCSK4,non_coding_transcript_exon_variant,,ENST00000586616,;PCSK4,non_coding_transcript_exon_variant,,ENST00000441747,;PCSK4,non_coding_transcript_exon_variant,,ENST00000588195,;PCSK4,non_coding_transcript_exon_variant,,ENST00000586002,;PCSK4,upstream_gene_variant,,ENST00000586074,;C19orf25,upstream_gene_variant,,ENST00000589421,;PCSK4,upstream_gene_variant,,ENST00000591303,;PCSK4,downstream_gene_variant,,ENST00000614078,; T ENSG00000115257 ENST00000300954 Transcript missense_variant 1312/2661 1250/2268 417/755 R/K aGg/aAg 1 NA -1 PCSK4 HGNC HGNC:8746 protein_coding YES CCDS12069.2 ENSP00000300954 Q6UW60.140 A0A140VJQ9.26 UPI000014E136 NM_017573.4 tolerated(1) benign(0.011) 10/15 Pfam:PF00082,Gene3D:3.40.50.200,Superfamily:SSF52743,PROSITE_profiles:PS51892,PANTHER:PTHR42884:SF16,PANTHER:PTHR42884 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CCT . 2389.6 NA NA NA NA NA NA NA NA NA 1483861 BTBD2 55643 . GRCh38 chr19 1997382 1997382 + Silent SNP C C T rs1240563256 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.489G>A p.Leu163= p.L163= ENST00000255608 2/9 NA NA NA NA NA NA BTBD2,synonymous_variant,p.Leu163=,ENST00000255608,NM_017797.4;BTBD2,synonymous_variant,p.Leu15=,ENST00000587825,;BTBD2,synonymous_variant,p.Leu15=,ENST00000590646,;BTBD2,synonymous_variant,p.Leu15=,ENST00000587742,;BTBD2,synonymous_variant,p.Leu15=,ENST00000588395,;BTBD2,3_prime_UTR_variant,,ENST00000589200,; T ENSG00000133243 ENST00000255608 Transcript synonymous_variant 500/2629 489/1578 163/525 L ctG/ctA rs1240563256 1 NA -1 BTBD2 HGNC HGNC:15504 protein_coding YES CCDS12078.1 ENSP00000255608 Q9BX70.157 UPI0000126B02 NM_017797.4 2/9 Gene3D:3.30.710.10,Pfam:PF00651,PROSITE_profiles:PS50097,PANTHER:PTHR45774,PANTHER:PTHR45774:SF6,SMART:SM00225,Superfamily:SSF54695,CDD:cd18281 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . GCA . 123.6 NA NA NA NA NA NA NA NA NA 1997382 DOT1L 84444 . GRCh38 chr19 2191049 2191049 + Missense_Mutation SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.302G>A p.Arg101Gln p.R101Q ENST00000398665 5/28 NA NA NA NA NA NA DOT1L,missense_variant,p.Arg101Gln,ENST00000398665,NM_032482.3;DOT1L,intron_variant,,ENST00000452696,;DOT1L,3_prime_UTR_variant,,ENST00000478937,; A ENSG00000104885 ENST00000398665 Transcript missense_variant 554/7652 302/4614 101/1537 R/Q cGg/cAg 1 NA 1 DOT1L HGNC HGNC:24948 protein_coding YES CCDS42460.1 ENSP00000381657 Q8TEK3.180 UPI000002A839 NM_032482.3 deleterious(0.01) possibly_damaging(0.621) 5/28 PDB-ENSP_mappings:1nw3.A,PDB-ENSP_mappings:3qow.A,PDB-ENSP_mappings:3qox.A,PDB-ENSP_mappings:3sr4.A,PDB-ENSP_mappings:3sx0.A,PDB-ENSP_mappings:3uwp.A,PDB-ENSP_mappings:4ek9.A,PDB-ENSP_mappings:4ekg.A,PDB-ENSP_mappings:4eki.A,PDB-ENSP_mappings:4eqz.A,PDB-ENSP_mappings:4er0.A,PDB-ENSP_mappings:4er3.A,PDB-ENSP_mappings:4er5.A,PDB-ENSP_mappings:4er6.A,PDB-ENSP_mappings:4er7.A,PDB-ENSP_mappings:4hra.A,PDB-ENSP_mappings:4wvl.A,PDB-ENSP_mappings:5drt.A,PDB-ENSP_mappings:5drt.B,PDB-ENSP_mappings:5dry.A,PDB-ENSP_mappings:5dry.B,PDB-ENSP_mappings:5dsx.A,PDB-ENSP_mappings:5dsx.B,PDB-ENSP_mappings:5dt2.A,PDB-ENSP_mappings:5dt2.B,PDB-ENSP_mappings:5dtm.A,PDB-ENSP_mappings:5dtm.B,PDB-ENSP_mappings:5dtq.A,PDB-ENSP_mappings:5dtq.B,PDB-ENSP_mappings:5dtr.A,PDB-ENSP_mappings:5dtr.B,PDB-ENSP_mappings:5juw.A,PDB-ENSP_mappings:5mvs.A,PDB-ENSP_mappings:5mvs.B,PDB-ENSP_mappings:5mw3.A,PDB-ENSP_mappings:5mw3.B,PDB-ENSP_mappings:5mw4.A,PDB-ENSP_mappings:5mw4.B,PDB-ENSP_mappings:6in3.A,PDB-ENSP_mappings:6j99.K,PDB-ENSP_mappings:6jm9.X,PDB-ENSP_mappings:6jma.X,PDB-ENSP_mappings:6nj9.K,PDB-ENSP_mappings:6nn6.K,PDB-ENSP_mappings:6nog.K,PDB-ENSP_mappings:6nqa.K,PDB-ENSP_mappings:6o96.K,PDB-ENSP_mappings:6te6.A,PDB-ENSP_mappings:6te6.B,PDB-ENSP_mappings:6tel.A,PDB-ENSP_mappings:6tel.B,PDB-ENSP_mappings:6ten.A,PDB-ENSP_mappings:6ten.B,PROSITE_profiles:PS51569,PANTHER:PTHR21451,Gene3D:1.10.260.60,PIRSF:PIRSF037123,Superfamily:SSF53335 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CGG . 4768.6 NA NA NA NA NA NA NA NA NA 2191049 PLEKHJ1 55111 . GRCh38 chr19 2230459 2230459 + Missense_Mutation SNP C C T rs762621944 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.538G>A p.Ala180Thr p.A180T ENST00000587394 6/6 NA NA NA NA NA NA PLEKHJ1,missense_variant,p.Ala180Thr,ENST00000587394,NM_001300836.2;DOT1L,3_prime_UTR_variant,,ENST00000398665,NM_032482.3;DOT1L,3_prime_UTR_variant,,ENST00000457590,;PLEKHJ1,downstream_gene_variant,,ENST00000326631,NM_018049.3;DOT1L,downstream_gene_variant,,ENST00000446286,;PLEKHJ1,downstream_gene_variant,,ENST00000586608,;PLEKHJ1,downstream_gene_variant,,ENST00000587962,;PLEKHJ1,downstream_gene_variant,,ENST00000589097,;PLEKHJ1,downstream_gene_variant,,ENST00000591099,;MIR1227,downstream_gene_variant,,ENST00000408484,;PLEKHJ1,downstream_gene_variant,,ENST00000588633,;PLEKHJ1,downstream_gene_variant,,ENST00000589791,;PLEKHJ1,downstream_gene_variant,,ENST00000585423,;PLEKHJ1,downstream_gene_variant,,ENST00000586497,;PLEKHJ1,downstream_gene_variant,,ENST00000588450,;PLEKHJ1,downstream_gene_variant,,ENST00000588545,; T ENSG00000104886 ENST00000587394 Transcript missense_variant 562/937 538/834 180/277 A/T Gcg/Acg rs762621944 1 NA -1 PLEKHJ1 HGNC HGNC:18211 protein_coding YES CCDS74251.1 ENSP00000464955 K7EIZ3.52 UPI0000202FBE NM_001300836.2 deleterious_low_confidence(0) unknown(0) 6/6 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE NA SNV 2 NA NA NA . GCG . 8014.6 NA NA NA NA NA NA NA NA NA 2230459 ZNF556 80032 . GRCh38 chr19 2876256 2876256 + Silent SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.294C>T p.Asn98= p.N98= ENST00000307635 3/4 NA NA NA NA NA NA ZNF556,synonymous_variant,p.Asn98=,ENST00000307635,NM_024967.3;ZNF556,synonymous_variant,p.Asn98=,ENST00000586426,NM_001300843.2;ZNF556,3_prime_UTR_variant,,ENST00000586470,;AC006130.2,upstream_gene_variant,,ENST00000586202,; T ENSG00000172000 ENST00000307635 Transcript synonymous_variant 381/6574 294/1371 98/456 N aaC/aaT 1 NA 1 ZNF556 HGNC HGNC:25669 protein_coding YES CCDS12097.1 ENSP00000302603 Q9HAH1.153 UPI000006DA0F NM_024967.3 3/4 PANTHER:PTHR24379,PANTHER:PTHR24379:SF26,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 2 NA NA NA . ACA . 1575.6 NA NA NA NA NA NA NA NA NA 2876256 HMG20B 10362 . GRCh38 chr19 3574434 3574434 + Missense_Mutation SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.199C>T p.Pro67Ser p.P67S ENST00000333651 4/10 NA NA NA NA NA NA HMG20B,missense_variant,p.Pro67Ser,ENST00000333651,NM_006339.3;HMG20B,missense_variant,p.Ala71Val,ENST00000262949,;HMG20B,missense_variant,p.Pro67Ser,ENST00000453933,;HMG20B,missense_variant,p.Pro67Ser,ENST00000416526,;HMG20B,missense_variant,p.Pro81Ser,ENST00000417382,;HMG20B,upstream_gene_variant,,ENST00000585900,;MFSD12,upstream_gene_variant,,ENST00000592652,;HMG20B,downstream_gene_variant,,ENST00000585741,;MFSD12,upstream_gene_variant,,ENST00000586402,;MFSD12,upstream_gene_variant,,ENST00000591878,;HMG20B,missense_variant,p.Ala71Val,ENST00000435022,;HMG20B,non_coding_transcript_exon_variant,,ENST00000488973,;HMG20B,non_coding_transcript_exon_variant,,ENST00000486028,;HMG20B,upstream_gene_variant,,ENST00000461099,;HMG20B,upstream_gene_variant,,ENST00000464304,;HMG20B,downstream_gene_variant,,ENST00000470356,;HMG20B,upstream_gene_variant,,ENST00000483417,;HMG20B,upstream_gene_variant,,ENST00000487894,;HMG20B,upstream_gene_variant,,ENST00000493191,;MFSD12,upstream_gene_variant,,ENST00000585814,;MFSD12,upstream_gene_variant,,ENST00000588626,;,regulatory_region_variant,,ENSR00000106076,; T ENSG00000064961 ENST00000333651 Transcript missense_variant 268/1585 199/954 67/317 P/S Ccg/Tcg 1 NA 1 HMG20B HGNC HGNC:5002 protein_coding YES CCDS45919.1 ENSP00000328269 Q9P0W2.163 UPI000006D8AE NM_006339.3 tolerated(0.28) probably_damaging(0.994) 4/10 Gene3D:1.10.30.10,PANTHER:PTHR46040,PANTHER:PTHR46040:SF2,Superfamily:SSF47095 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . GCC . 7183.6 NA NA NA NA NA NA NA NA NA 3574434 EBI3 10148 . GRCh38 chr19 4234806 4234808 + In_Frame_Del DEL AGC AGC - rs760821860 NA HCI-EC-23 NORMAL AGC AGC NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.519_521del p.Ala175del p.A175del ENST00000221847 4/5 NA NA NA NA NA NA EBI3,inframe_deletion,p.Ala175del,ENST00000221847,NM_005755.3;EBI3,downstream_gene_variant,,ENST00000599339,; - ENSG00000105246 ENST00000221847 Transcript inframe_deletion 547-549/1158 519-521/690 173-174/229 GA/G ggAGCt/ggt rs760821860 1 NA 1 EBI3 HGNC HGNC:3129 protein_coding YES CCDS12123.1 ENSP00000221847 Q14213.167 UPI000000DB32 NM_005755.3 4/5 Gene3D:2.60.40.10,Pfam:PF00041,PROSITE_profiles:PS50853,PANTHER:PTHR23036,PANTHER:PTHR23036:SF167,SMART:SM00060,Superfamily:SSF49265,CDD:cd00063 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 deletion 1 NA NA NA . GGAGCT . 1790.6 1.592e-05 NA NA NA NA NA 3.522e-05 NA NA 4234805 EBI3 10148 . GRCh38 chr19 4234810 4234823 + Frame_Shift_Del DEL GCGCGCTTCCACCG GCGCGCTTCCACCG - rs771278441 NA HCI-EC-23 NORMAL GCGCGCTTCCACCG GCGCGCTTCCACCG NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.524_537del p.Ala175GlyfsTer5 p.A175Gfs*5 ENST00000221847 4/5 NA NA NA NA NA NA EBI3,frameshift_variant,p.Ala175GlyfsTer5,ENST00000221847,NM_005755.3;EBI3,downstream_gene_variant,,ENST00000599339,; - ENSG00000105246 ENST00000221847 Transcript frameshift_variant,splice_region_variant 551-564/1158 523-536/690 175-179/229 ARFHR/X GCGCGCTTCCACCGg/g rs771278441 1 NA 1 EBI3 HGNC HGNC:3129 protein_coding YES CCDS12123.1 ENSP00000221847 Q14213.167 UPI000000DB32 NM_005755.3 4/5 Gene3D:2.60.40.10,Pfam:PF00041,PROSITE_profiles:PS50853,PANTHER:PTHR23036,PANTHER:PTHR23036:SF167,SMART:SM00060,Superfamily:SSF49265,CDD:cd00063 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 1 NA NA . CTGCGCGCTTCCACCGG . 1781.6 1.593e-05 NA NA NA NA NA 3.524e-05 NA NA 4234809 PLIN4 729359 . GRCh38 chr19 4511338 4511338 + Missense_Mutation SNP T T A rs7259721 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2625A>T p.Lys875Asn p.K875N ENST00000633942 5/8 NA NA NA NA NA NA PLIN4,missense_variant,p.Lys875Asn,ENST00000633942,NM_001367868.2;PLIN4,missense_variant,p.Lys860Asn,ENST00000301286,; A ENSG00000167676 ENST00000633942 Transcript missense_variant 2723/6484 2625/4119 875/1372 K/N aaA/aaT rs7259721 1 NA -1 PLIN4 HGNC HGNC:29393 protein_coding YES ENSP00000488481 A0A0J9YXN7.32 UPI000387DB1F NM_001367868.2 tolerated(1) benign(0) 5/8 PANTHER:PTHR47538,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . CTT . 40295.05 NA NA NA NA NA NA NA NA NA 4511338 PLIN4 729359 . GRCh38 chr19 4511513 4511513 + Missense_Mutation SNP A A G rs7256712 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2450T>C p.Met817Thr p.M817T ENST00000633942 5/8 NA NA NA NA NA NA PLIN4,missense_variant,p.Met817Thr,ENST00000633942,NM_001367868.2;PLIN4,missense_variant,p.Met802Thr,ENST00000301286,; G ENSG00000167676 ENST00000633942 Transcript missense_variant 2548/6484 2450/4119 817/1372 M/T aTg/aCg rs7256712 1 NA -1 PLIN4 HGNC HGNC:29393 protein_coding YES ENSP00000488481 A0A0J9YXN7.32 UPI000387DB1F NM_001367868.2 tolerated(0.94) benign(0) 5/8 PANTHER:PTHR47538 NA 0.9743 0.9121 NA 0.9762 0.8817 0.8957 NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . CAT . 27720.03 NA NA NA NA NA NA NA NA NA 4511513 PLIN4 729359 . GRCh38 chr19 4511725 4511725 + Silent SNP T T C rs57610751 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2238A>G p.Lys746= p.K746= ENST00000633942 5/8 NA NA NA NA NA NA PLIN4,synonymous_variant,p.Lys746=,ENST00000633942,NM_001367868.2;PLIN4,synonymous_variant,p.Lys731=,ENST00000301286,; C ENSG00000167676 ENST00000633942 Transcript synonymous_variant 2336/6484 2238/4119 746/1372 K aaA/aaG rs57610751 1 NA -1 PLIN4 HGNC HGNC:29393 protein_coding YES ENSP00000488481 A0A0J9YXN7.32 UPI000387DB1F NM_001367868.2 5/8 PANTHER:PTHR47538 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . CTT . 27125.6 NA NA NA NA NA NA NA NA NA 4511725 PLIN5 440503 . GRCh38 chr19 4529181 4529181 + Missense_Mutation SNP G G A rs1466692340 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.412C>T p.Arg138Cys p.R138C ENST00000381848 5/8 NA NA NA NA NA NA PLIN5,missense_variant,p.Arg138Cys,ENST00000381848,NM_001013706.3;PLIN5,downstream_gene_variant,,ENST00000586133,;PLIN5,downstream_gene_variant,,ENST00000592610,;PLIN5,downstream_gene_variant,,ENST00000588887,;AC011498.4,3_prime_UTR_variant,,ENST00000586020,;PLIN5,upstream_gene_variant,,ENST00000589728,;PLIN5,downstream_gene_variant,,ENST00000590350,; A ENSG00000214456 ENST00000381848 Transcript missense_variant 493/2470 412/1392 138/463 R/C Cgc/Tgc rs1466692340,COSV67851085 1 NA -1 PLIN5 HGNC HGNC:33196 protein_coding YES CCDS42473.1 ENSP00000371272 Q00G26.103 UPI00001D821D NM_001013706.3 deleterious(0) possibly_damaging(0.543) 5/8 PANTHER:PTHR14024:SF9,PANTHER:PTHR14024,Pfam:PF03036,PIRSF:PIRSF036881 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 1 NA 0,1 NA NA . CGC . 2029.6 4.033e-06 NA NA NA NA NA 8.911e-06 NA NA 4529181 FEM1A 55527 . GRCh38 chr19 4792804 4792804 + Missense_Mutation SNP G G T novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.950G>T p.Gly317Val p.G317V ENST00000269856 1/1 NA NA NA NA NA NA FEM1A,missense_variant,p.Gly317Val,ENST00000269856,NM_018708.3;AC005523.2,non_coding_transcript_exon_variant,,ENST00000601192,;AC005523.2,downstream_gene_variant,,ENST00000596170,;AC005523.1,upstream_gene_variant,,ENST00000598782,;,regulatory_region_variant,,ENSR00000106273,; T ENSG00000141965 ENST00000269856 Transcript missense_variant 1071/9540 950/2010 317/669 G/V gGg/gTg 1 NA 1 FEM1A HGNC HGNC:16934 protein_coding YES CCDS12135.1 ENSP00000269856 Q9BSK4.166 UPI0000073096 NM_018708.3 deleterious(0.03) possibly_damaging(0.742) 1/1 Gene3D:1.25.40.10,PANTHER:PTHR24173,PANTHER:PTHR24173:SF12,Superfamily:SSF48452 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE NA SNV NA NA NA NA . GGG . 3088.6 NA NA NA NA NA NA NA NA NA 4792804 ARRDC5 645432 . GRCh38 chr19 4902833 4902834 + Frame_Shift_Ins INS - - G novel NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.34dup p.Gln12ProfsTer18 p.Q12Pfs*18 ENST00000381781 1/3 NA NA NA NA NA NA ARRDC5,frameshift_variant,p.Gln12ProfsTer18,ENST00000381781,;ARRDC5,5_prime_UTR_variant,,ENST00000650722,NM_001080523.3,NM_001367189.2;UHRF1,upstream_gene_variant,,ENST00000612630,NM_001290050.1;,regulatory_region_variant,,ENSR00000106292,; G ENSG00000205784 ENST00000381781 Transcript frameshift_variant 34-35/1638 34-35/1029 12/342 Q/PX caa/cCaa 1 NA -1 ARRDC5 HGNC HGNC:31407 protein_coding YES CCDS45929.1 ENSP00000371200 A6NEK1.94 UPI0000DD84C9 1/3 Superfamily:SSF81296 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 insertion 3 NA NA NA . TTG . 592.64 NA NA NA NA NA NA NA NA NA 4902833 PRR22 163154 . GRCh38 chr19 5783830 5783830 + Frame_Shift_Del DEL C C - rs1568383522 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.417del p.Gln141SerfsTer36 p.Q141Sfs*36 ENST00000419421 3/3 NA NA NA NA NA NA PRR22,frameshift_variant,p.Gln141SerfsTer36,ENST00000419421,NM_001134316.2;PRR22,3_prime_UTR_variant,,ENST00000390672,;DUS3L,downstream_gene_variant,,ENST00000309061,NM_020175.3;DUS3L,downstream_gene_variant,,ENST00000320699,NM_001161619.2;AC011499.1,downstream_gene_variant,,ENST00000586012,;DUS3L,downstream_gene_variant,,ENST00000590343,;DUS3L,downstream_gene_variant,,ENST00000589085,;DUS3L,downstream_gene_variant,,ENST00000589841,;DUS3L,downstream_gene_variant,,ENST00000590087,;DUS3L,downstream_gene_variant,,ENST00000590110,;DUS3L,downstream_gene_variant,,ENST00000591560,;DUS3L,downstream_gene_variant,,ENST00000592468,;DUS3L,downstream_gene_variant,,ENST00000592673,;DUS3L,downstream_gene_variant,,ENST00000593229,; - ENSG00000212123 ENST00000419421 Transcript frameshift_variant 503/1373 417/1269 139/422 G/X ggG/gg rs1568383522 1 NA -1 PRR22 HGNC HGNC:28354 protein_coding YES CCDS45933.1 ENSP00000407653 Q8IZ63.102 UPI00017E10D9 NM_001134316.2 3/3 Pfam:PF15776,PANTHER:PTHR37871 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH NA deletion 2 NA NA NA . GGCC . 2685.6 4.192e-05 NA NA 0.0001744 NA NA 8.575e-05 NA NA 5783829 MLLT1 4298 . GRCh38 chr19 6222397 6222397 + Silent SNP G G T novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.834C>A p.Pro278= p.P278= ENST00000252674 6/12 NA NA NA NA NA NA MLLT1,synonymous_variant,p.Pro278=,ENST00000252674,NM_005934.4;,regulatory_region_variant,,ENSR00001021648,; T ENSG00000130382 ENST00000252674 Transcript synonymous_variant 1025/4532 834/1680 278/559 P ccC/ccA 1 NA -1 MLLT1 HGNC HGNC:7134 protein_coding YES CCDS12160.1 ENSP00000252674 Q03111.175 UPI000006F7B3 NM_005934.4 6/12 PANTHER:PTHR23195,PANTHER:PTHR23195:SF14,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . GGG . 274.6 NA NA NA NA NA NA NA NA NA 6222397 SLC25A41 284427 . GRCh38 chr19 6427440 6427440 + Missense_Mutation SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.686C>T p.Ala229Val p.A229V ENST00000321510 5/7 NA NA NA NA NA NA SLC25A41,missense_variant,p.Ala229Val,ENST00000321510,NM_173637.4,NM_001321298.2;KHSRP,upstream_gene_variant,,ENST00000398148,NM_001366300.1,NM_003685.3,NM_001366299.1;KHSRP,upstream_gene_variant,,ENST00000595258,;KHSRP,upstream_gene_variant,,ENST00000595548,;KHSRP,upstream_gene_variant,,ENST00000599395,;KHSRP,upstream_gene_variant,,ENST00000619396,;SLC25A41,missense_variant,p.Ala229Val,ENST00000597558,;SLC25A41,3_prime_UTR_variant,,ENST00000458275,; A ENSG00000181240 ENST00000321510 Transcript missense_variant 756/1535 686/1113 229/370 A/V gCc/gTc 1 NA -1 SLC25A41 HGNC HGNC:28533 protein_coding YES CCDS45937.1 ENSP00000322649 Q8N5S1.133 UPI00003751E5 NM_173637.4,NM_001321298.2 deleterious(0.02) possibly_damaging(0.612) 5/7 PROSITE_profiles:PS50920,PANTHER:PTHR24089:SF181,PANTHER:PTHR24089,Pfam:PF00153,Gene3D:1.50.40.10,Superfamily:SSF103506 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE NA SNV 5 NA NA NA . GGC . 5451.6 NA NA NA NA NA NA NA NA NA 6427440 TRIP10 9322 . GRCh38 chr19 6751057 6751057 + Splice_Region SNP T T A novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1658-6T>A ENST00000313244 NA NA NA NA NA NA TRIP10,missense_variant,p.Ser505Thr,ENST00000596758,NM_001288963.2;TRIP10,splice_region_variant,,ENST00000313244,NM_001288962.2;TRIP10,splice_region_variant,,ENST00000313285,NM_004240.4;TRIP10,splice_region_variant,,ENST00000600428,;SH2D3A,downstream_gene_variant,,ENST00000245908,NM_005490.3;SH2D3A,downstream_gene_variant,,ENST00000437152,;SH2D3A,downstream_gene_variant,,ENST00000597687,;AC008760.1,intron_variant,,ENST00000594056,;SH2D3A,downstream_gene_variant,,ENST00000597168,;SH2D3A,downstream_gene_variant,,ENST00000597254,;SH2D3A,downstream_gene_variant,,ENST00000599563,;TRIP10,splice_region_variant,,ENST00000595305,;TRIP10,splice_region_variant,,ENST00000600677,;SH2D3A,downstream_gene_variant,,ENST00000595681,;TRIP10,downstream_gene_variant,,ENST00000598843,; A ENSG00000125733 ENST00000313244 Transcript splice_region_variant,intron_variant 1 NA 1 TRIP10 HGNC HGNC:12304 protein_coding YES CCDS74271.1 ENSP00000320117 Q15642.194 UPI000006DB86 NM_001288962.2 14/14 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . ATC . 340.6 NA NA NA NA NA NA NA NA NA 6751057 INSR 3643 . GRCh38 chr19 7125384 7125384 + Missense_Mutation SNP G G A rs185736681 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3157C>T p.Arg1053Cys p.R1053C ENST00000302850 17/22 NA NA NA NA NA NA INSR,missense_variant,p.Arg1053Cys,ENST00000302850,NM_000208.4;INSR,missense_variant,p.Arg1041Cys,ENST00000341500,NM_001079817.3;INSR,non_coding_transcript_exon_variant,,ENST00000593970,;INSR,upstream_gene_variant,,ENST00000601099,; A ENSG00000171105 ENST00000302850 Transcript missense_variant 3680/9463 3157/4149 1053/1382 R/C Cgc/Tgc rs185736681 1 NA -1 INSR HGNC HGNC:6091 protein_coding YES CCDS12176.1 ENSP00000303830 P06213.266 UPI000020324D NM_000208.4 deleterious(0.02) benign(0.125) 17/22 PDB-ENSP_mappings:1gag.A,PDB-ENSP_mappings:1i44.A,PDB-ENSP_mappings:1ir3.A,PDB-ENSP_mappings:1irk.A,PDB-ENSP_mappings:1p14.A,PDB-ENSP_mappings:1rqq.A,PDB-ENSP_mappings:1rqq.B,PDB-ENSP_mappings:2auh.A,PDB-ENSP_mappings:2b4s.B,PDB-ENSP_mappings:2b4s.D,PDB-ENSP_mappings:2z8c.A,Gene3D:3.30.200.20,PDB-ENSP_mappings:3bu3.A,PDB-ENSP_mappings:3bu5.A,PDB-ENSP_mappings:3bu6.A,PDB-ENSP_mappings:3ekk.A,PDB-ENSP_mappings:3ekn.A,PDB-ENSP_mappings:3eta.A,PDB-ENSP_mappings:3eta.B,PDB-ENSP_mappings:4ibm.A,PDB-ENSP_mappings:4ibm.B,PDB-ENSP_mappings:4xlv.A,PDB-ENSP_mappings:5e1s.A,PDB-ENSP_mappings:5hhw.A,PDB-ENSP_mappings:6pxv.A,PDB-ENSP_mappings:6pxv.C,PDB-ENSP_mappings:6pxw.A,PDB-ENSP_mappings:6pxw.B,Pfam:PF07714,PIRSF:PIRSF000620,PROSITE_patterns:PS00107,PROSITE_profiles:PS50011,PANTHER:PTHR24416,PANTHER:PTHR24416:SF535,SMART:SM00219,Superfamily:SSF56112,CDD:cd05061 2e-04 8e-04 NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . CGG . 6064.6 3.978e-06 6.153e-05 NA NA NA NA NA NA NA 7125384 AC119396.1 0 . GRCh38 chr19 7372901 7372901 + Silent SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.291C>T p.Asp97= p.D97= ENST00000671891 3/10 NA NA NA NA NA NA AC119396.1,synonymous_variant,p.Asp35=,ENST00000576789,;AC119396.1,synonymous_variant,p.Asp97=,ENST00000671891,; T ENSG00000263264 ENST00000671891 Transcript synonymous_variant 303/1347 291/1335 97/444 D gaC/gaT 1 NA 1 AC119396.1 Clone_based_ensembl_gene protein_coding YES ENSP00000500339 A0A5F9ZHI8.2 UPI0012351E75 3/10 PANTHER:PTHR47440 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV NA NA NA NA . ACC . 3767.6 NA NA NA NA NA NA NA NA NA 7372901 CAMSAP3 57662 . GRCh38 chr19 7605319 7605319 + Missense_Mutation SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.242C>T p.Ala81Val p.A81V ENST00000446248 2/19 NA NA NA NA NA NA CAMSAP3,missense_variant,p.Ala81Val,ENST00000446248,NM_001080429.3;CAMSAP3,missense_variant,p.Ala81Val,ENST00000160298,NM_020902.2;,regulatory_region_variant,,ENSR00001021808,; T ENSG00000076826 ENST00000446248 Transcript missense_variant 343/4179 242/3831 81/1276 A/V gCc/gTc 1 NA 1 CAMSAP3 HGNC HGNC:29307 protein_coding YES CCDS45947.1 ENSP00000416797 Q9P1Y5.156 UPI0000161861 NM_001080429.3 deleterious(0.01) possibly_damaging(0.737) 2/19 PANTHER:PTHR21595,PANTHER:PTHR21595:SF2 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . GCC . 2882.6 NA NA NA NA NA NA NA NA NA 7605319 TGFBR3L 100507588 . GRCh38 chr19 7918061 7918061 + Silent SNP C C A novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.888C>A p.Pro296= p.P296= ENST00000565886 5/6 NA NA NA NA NA NA TGFBR3L,synonymous_variant,p.Pro296=,ENST00000565886,NM_001195259.1;SNAPC2,upstream_gene_variant,,ENST00000221573,NM_003083.4;MAP2K7,downstream_gene_variant,,ENST00000397979,NM_145185.4;MAP2K7,downstream_gene_variant,,ENST00000397981,NM_001297556.2;MAP2K7,downstream_gene_variant,,ENST00000397983,NM_001297555.2;SNAPC2,upstream_gene_variant,,ENST00000595637,;SNAPC2,upstream_gene_variant,,ENST00000597584,;AC010336.2,downstream_gene_variant,,ENST00000564226,;AC010336.4,upstream_gene_variant,,ENST00000595655,;TGFBR3L,non_coding_transcript_exon_variant,,ENST00000564348,;SNAPC2,upstream_gene_variant,,ENST00000593598,;SNAPC2,upstream_gene_variant,,ENST00000595035,;SNAPC2,upstream_gene_variant,,ENST00000596520,;TGFBR3L,non_coding_transcript_exon_variant,,ENST00000566166,;,regulatory_region_variant,,ENSR00000583734,;,regulatory_region_variant,,ENSR00001021866,;,TF_binding_site_variant,,ENSM00525490969,;,TF_binding_site_variant,,ENSM00526301545,;,TF_binding_site_variant,,ENSM00522754606,;,TF_binding_site_variant,,ENSM00493707860,;,TF_binding_site_variant,,ENSM00479014043,;,TF_binding_site_variant,,ENSM00524944049,; A ENSG00000260001 ENST00000565886 Transcript synonymous_variant 1011/1260 888/951 296/316 P ccC/ccA 1 NA 1 TGFBR3L HGNC HGNC:44152 protein_coding YES CCDS58648.1 ENSP00000457962 H3BV60.48 UPI000059D654 NM_001195259.1 5/6 Low_complexity_(Seg):seg,PANTHER:PTHR14002:SF9,PANTHER:PTHR14002 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW NA SNV 5 NA NA NA . CCC . 3585.6 NA NA NA NA NA NA NA NA NA 7918061 FBN3 84467 . GRCh38 chr19 8087169 8087169 + Missense_Mutation SNP C C A NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.6788G>T p.Arg2263Leu p.R2263L ENST00000651877 54/64 NA NA NA NA NA NA FBN3,missense_variant,p.Arg2221Leu,ENST00000270509,;FBN3,missense_variant,p.Arg2221Leu,ENST00000600128,NM_032447.5;FBN3,missense_variant,p.Arg2263Leu,ENST00000651877,;FBN3,missense_variant,p.Arg2221Leu,ENST00000601739,NM_001321431.1;FBN3,downstream_gene_variant,,ENST00000601281,;FBN3,downstream_gene_variant,,ENST00000598269,;,regulatory_region_variant,,ENSR00000583802,; A ENSG00000142449 ENST00000651877 Transcript missense_variant 6805/9090 6788/8556 2263/2851 R/L cGg/cTg COSV54464978 1 NA -1 FBN3 HGNC HGNC:18794 protein_coding YES ENSP00000498507 A0A494C0D8.9 UPI0007DC6891 tolerated(0.13) benign(0.022) 54/64 Gene3D:2.10.25.10,Pfam:PF07645,PIRSF:PIRSF036312,PROSITE_patterns:PS01187,PROSITE_profiles:PS50026,PANTHER:PTHR24039,PANTHER:PTHR24039:SF0,SMART:SM00179,SMART:SM00181,Superfamily:SSF57196 NA NA NA NA NA NA NA NA NA 1 NA NA NA NA MODERATE 1 SNV NA NA 1 NA NA . CCG . 3182.6 NA NA NA NA NA NA NA NA NA 8087169 FBN3 84467 . GRCh38 chr19 8131740 8131741 + Frame_Shift_Ins INS - - C rs772353703 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1929dup p.Leu644AlafsTer64 p.L644Afs*64 ENST00000651877 15/64 NA NA NA NA NA NA FBN3,frameshift_variant,p.Leu602AlafsTer64,ENST00000270509,;FBN3,frameshift_variant,p.Leu602AlafsTer64,ENST00000600128,NM_032447.5;FBN3,frameshift_variant,p.Leu644AlafsTer64,ENST00000651877,;FBN3,frameshift_variant,p.Leu602AlafsTer64,ENST00000601739,NM_001321431.1; C ENSG00000142449 ENST00000651877 Transcript frameshift_variant 1946-1947/9090 1929-1930/8556 643-644/2851 -/X -/G rs772353703 1 NA -1 FBN3 HGNC HGNC:18794 protein_coding YES ENSP00000498507 A0A494C0D8.9 UPI0007DC6891 15/64 Gene3D:2.10.25.10,Pfam:PF07645,PIRSF:PIRSF036312,PROSITE_profiles:PS50026,PANTHER:PTHR24039,PANTHER:PTHR24039:SF0,SMART:SM00179,SMART:SM00181,Superfamily:SSF57184 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 insertion NA NA NA NA . AGC . 5012.64 8.116e-05 NA NA 0.0003029 NA 4.773e-05 0.0001352 NA 3.286e-05 8131740 MUC16 94025 . GRCh38 chr19 8888765 8888765 + Silent SNP G G A rs80293661 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.40734C>T p.Ile13578= p.I13578= ENST00000397910 56/84 NA NA NA NA NA NA MUC16,synonymous_variant,p.Ile13578=,ENST00000397910,NM_024690.2;MUC16,synonymous_variant,p.Ile418=,ENST00000599436,;MUC16,synonymous_variant,p.Ile418=,ENST00000601404,;MUC16,synonymous_variant,p.Ile198=,ENST00000596768,; A ENSG00000181143 ENST00000397910 Transcript synonymous_variant 40938/43816 40734/43524 13578/14507 I atC/atT rs80293661 1 NA -1 MUC16 HGNC HGNC:15582 protein_coding YES CCDS54212.1 ENSP00000381008 Q8WXI7.134 UPI000065CA24 NM_024690.2 56/84 Gene3D:3.30.70.960,Pfam:PF01390,PROSITE_profiles:PS50024,PANTHER:PTHR14672,SMART:SM00200,Superfamily:SSF82671 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA 1 . TGA . 2548.6 4.058e-06 NA 2.953e-05 NA NA NA NA NA NA 8888765 MUC16 94025 . GRCh38 chr19 8888767 8888767 + Missense_Mutation SNP T T C rs774801267 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.40732A>G p.Ile13578Val p.I13578V ENST00000397910 56/84 NA NA NA NA NA NA MUC16,missense_variant,p.Ile13578Val,ENST00000397910,NM_024690.2;MUC16,missense_variant,p.Ile418Val,ENST00000599436,;MUC16,missense_variant,p.Ile418Val,ENST00000601404,;MUC16,missense_variant,p.Ile198Val,ENST00000596768,; C ENSG00000181143 ENST00000397910 Transcript missense_variant 40936/43816 40732/43524 13578/14507 I/V Atc/Gtc rs774801267 1 NA -1 MUC16 HGNC HGNC:15582 protein_coding YES CCDS54212.1 ENSP00000381008 Q8WXI7.134 UPI000065CA24 NM_024690.2 tolerated_low_confidence(0.57) possibly_damaging(0.453) 56/84 Gene3D:3.30.70.960,Pfam:PF01390,PROSITE_profiles:PS50024,PANTHER:PTHR14672,SMART:SM00200,Superfamily:SSF82671 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA 1 . ATG . 2493.6 NA NA NA NA NA NA NA NA NA 8888767 MUC16 94025 . GRCh38 chr19 8888821 8888822 + Frame_Shift_Ins INS - - ACCA rs770233746 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.40677_40678insTGGT p.Pro13560TrpfsTer22 p.P13560Wfs*22 ENST00000397910 56/84 NA NA NA NA NA NA MUC16,frameshift_variant,p.Pro13560TrpfsTer22,ENST00000397910,NM_024690.2;MUC16,frameshift_variant,p.Pro400TrpfsTer22,ENST00000599436,;MUC16,frameshift_variant,p.Pro400TrpfsTer22,ENST00000601404,;MUC16,frameshift_variant,p.Pro180TrpfsTer22,ENST00000596768,; ACCA ENSG00000181143 ENST00000397910 Transcript frameshift_variant 40881-40882/43816 40677-40678/43524 13559-13560/14507 -/WX -/TGGT rs770233746,COSV66692625 1 NA -1 MUC16 HGNC HGNC:15582 protein_coding YES CCDS54212.1 ENSP00000381008 Q8WXI7.134 UPI000065CA24 NM_024690.2 56/84 Gene3D:3.30.70.960,Pfam:PF01390,PROSITE_profiles:PS50024,PANTHER:PTHR14672,SMART:SM00200,Superfamily:SSF82671 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA HIGH 1 insertion 5 NA 0,1 NA 1 . GGG . 2020.64 NA NA NA NA NA NA NA NA NA 8888821 MUC16 94025 . GRCh38 chr19 8888823 8888826 + Frame_Shift_Del DEL CTTT CTTT - rs749870095 NA HCI-EC-23 NORMAL CTTT CTTT NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.40673_40676del p.Lys13558ThrfsTer13 p.K13558Tfs*13 ENST00000397910 56/84 NA NA NA NA NA NA MUC16,frameshift_variant,p.Lys13558ThrfsTer13,ENST00000397910,NM_024690.2;MUC16,frameshift_variant,p.Lys398ThrfsTer13,ENST00000599436,;MUC16,frameshift_variant,p.Lys398ThrfsTer13,ENST00000601404,;MUC16,frameshift_variant,p.Lys178ThrfsTer13,ENST00000596768,; - ENSG00000181143 ENST00000397910 Transcript frameshift_variant 40877-40880/43816 40673-40676/43524 13558-13559/14507 KS/X aAAAGc/ac rs749870095 1 NA -1 MUC16 HGNC HGNC:15582 protein_coding YES CCDS54212.1 ENSP00000381008 Q8WXI7.134 UPI000065CA24 NM_024690.2 56/84 Gene3D:3.30.70.960,Pfam:PF01390,PROSITE_profiles:PS50024,PANTHER:PTHR14672,SMART:SM00200,Superfamily:SSF82671 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 5 NA NA 1 . GGCTTTT . 1983.6 NA NA NA NA NA NA NA NA NA 8888822 MUC16 94025 . GRCh38 chr19 8888835 8888835 + Missense_Mutation SNP G G A rs79907258 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.40664C>T p.Pro13555Leu p.P13555L ENST00000397910 56/84 NA NA NA NA NA NA MUC16,missense_variant,p.Pro13555Leu,ENST00000397910,NM_024690.2;MUC16,missense_variant,p.Pro395Leu,ENST00000599436,;MUC16,missense_variant,p.Pro395Leu,ENST00000601404,;MUC16,missense_variant,p.Pro175Leu,ENST00000596768,; A ENSG00000181143 ENST00000397910 Transcript missense_variant 40868/43816 40664/43524 13555/14507 P/L cCt/cTt rs79907258,COSV66691349 1 NA -1 MUC16 HGNC HGNC:15582 protein_coding YES CCDS54212.1 ENSP00000381008 Q8WXI7.134 UPI000065CA24 NM_024690.2 tolerated_low_confidence(0.29) probably_damaging(0.995) 56/84 Gene3D:3.30.70.960,Pfam:PF01390,PROSITE_profiles:PS50024,PANTHER:PTHR14672,SMART:SM00200,Superfamily:SSF82671 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 5 NA 0,1 NA 1 . AGG . 2095.6 4.172e-06 6.498e-05 NA NA NA NA NA NA NA 8888835 MUC16 94025 . GRCh38 chr19 8888841 8888841 + Missense_Mutation SNP T T A rs780415518 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.40658A>T p.Tyr13553Phe p.Y13553F ENST00000397910 56/84 NA NA NA NA NA NA MUC16,missense_variant,p.Tyr13553Phe,ENST00000397910,NM_024690.2;MUC16,missense_variant,p.Tyr393Phe,ENST00000599436,;MUC16,missense_variant,p.Tyr393Phe,ENST00000601404,;MUC16,missense_variant,p.Tyr173Phe,ENST00000596768,; A ENSG00000181143 ENST00000397910 Transcript missense_variant 40862/43816 40658/43524 13553/14507 Y/F tAc/tTc rs780415518 1 NA -1 MUC16 HGNC HGNC:15582 protein_coding YES CCDS54212.1 ENSP00000381008 Q8WXI7.134 UPI000065CA24 NM_024690.2 tolerated_low_confidence(0.22) probably_damaging(0.97) 56/84 Gene3D:3.30.70.960,Pfam:PF01390,PROSITE_profiles:PS50024,PANTHER:PTHR14672,SMART:SM00200,Superfamily:SSF82671 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA 1 . GTA . 1405.6 NA NA NA NA NA NA NA NA NA 8888841 MUC16 94025 . GRCh38 chr19 8888842 8888842 + Missense_Mutation SNP A A G rs77650227 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.40657T>C p.Tyr13553His p.Y13553H ENST00000397910 56/84 NA NA NA NA NA NA MUC16,missense_variant,p.Tyr13553His,ENST00000397910,NM_024690.2;MUC16,missense_variant,p.Tyr393His,ENST00000599436,;MUC16,missense_variant,p.Tyr393His,ENST00000601404,;MUC16,missense_variant,p.Tyr173His,ENST00000596768,; G ENSG00000181143 ENST00000397910 Transcript missense_variant 40861/43816 40657/43524 13553/14507 Y/H Tac/Cac rs77650227,COSV66691354 1 NA -1 MUC16 HGNC HGNC:15582 protein_coding YES CCDS54212.1 ENSP00000381008 Q8WXI7.134 UPI000065CA24 NM_024690.2 tolerated_low_confidence(0.36) possibly_damaging(0.523) 56/84 Gene3D:3.30.70.960,Pfam:PF01390,PROSITE_profiles:PS50024,PANTHER:PTHR14672,SMART:SM00200,Superfamily:SSF82671 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 5 NA 0,1 NA 1 . TAG . 2029.6 2.113e-05 NA 3.068e-05 NA 5.638e-05 NA 2.799e-05 NA NA 8888842 MUC16 94025 . GRCh38 chr19 8888855 8888855 + Silent SNP A A G rs766227927 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.40644T>C p.Asp13548= p.D13548= ENST00000397910 56/84 NA NA NA NA NA NA MUC16,synonymous_variant,p.Asp13548=,ENST00000397910,NM_024690.2;MUC16,synonymous_variant,p.Asp388=,ENST00000599436,;MUC16,synonymous_variant,p.Asp388=,ENST00000601404,;MUC16,synonymous_variant,p.Asp168=,ENST00000596768,; G ENSG00000181143 ENST00000397910 Transcript synonymous_variant 40848/43816 40644/43524 13548/14507 D gaT/gaC rs766227927 1 NA -1 MUC16 HGNC HGNC:15582 protein_coding YES CCDS54212.1 ENSP00000381008 Q8WXI7.134 UPI000065CA24 NM_024690.2 56/84 Gene3D:3.30.70.960,Pfam:PF01390,PROSITE_profiles:PS50024,PANTHER:PTHR14672,SMART:SM00200,Superfamily:SSF82671 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA 1 . CAT . 1450.6 4.532e-06 NA NA NA 5.833e-05 NA NA NA NA 8888855 MUC16 94025 . GRCh38 chr19 8888862 8888862 + Missense_Mutation SNP T T C rs78334969 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.40637A>G p.Lys13546Arg p.K13546R ENST00000397910 56/84 NA NA NA NA NA NA MUC16,missense_variant,p.Lys13546Arg,ENST00000397910,NM_024690.2;MUC16,missense_variant,p.Lys386Arg,ENST00000599436,;MUC16,missense_variant,p.Lys386Arg,ENST00000601404,;MUC16,missense_variant,p.Lys166Arg,ENST00000596768,; C ENSG00000181143 ENST00000397910 Transcript missense_variant 40841/43816 40637/43524 13546/14507 K/R aAa/aGa rs78334969,COSV66691361 1 NA -1 MUC16 HGNC HGNC:15582 protein_coding YES CCDS54212.1 ENSP00000381008 Q8WXI7.134 UPI000065CA24 NM_024690.2 tolerated_low_confidence(0.72) possibly_damaging(0.618) 56/84 Gene3D:3.30.70.960,Pfam:PF01390,PROSITE_profiles:PS50024,PANTHER:PTHR14672,SMART:SM00200,Superfamily:SSF82671 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 5 NA 0,1 NA 1 . TTT . 1412.6 9.299e-06 NA 3.564e-05 NA NA NA 1.01e-05 NA NA 8888862 MUC16 94025 . GRCh38 chr19 8888863 8888863 + Missense_Mutation SNP T T C rs76810971 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.40636A>G p.Lys13546Glu p.K13546E ENST00000397910 56/84 NA NA NA NA NA NA MUC16,missense_variant,p.Lys13546Glu,ENST00000397910,NM_024690.2;MUC16,missense_variant,p.Lys386Glu,ENST00000599436,;MUC16,missense_variant,p.Lys386Glu,ENST00000601404,;MUC16,missense_variant,p.Lys166Glu,ENST00000596768,; C ENSG00000181143 ENST00000397910 Transcript missense_variant 40840/43816 40636/43524 13546/14507 K/E Aaa/Gaa rs76810971 1 NA -1 MUC16 HGNC HGNC:15582 protein_coding YES CCDS54212.1 ENSP00000381008 Q8WXI7.134 UPI000065CA24 NM_024690.2 tolerated_low_confidence(0.57) probably_damaging(0.97) 56/84 Gene3D:3.30.70.960,Pfam:PF01390,PROSITE_profiles:PS50024,PANTHER:PTHR14672,SMART:SM00200,Superfamily:SSF82671 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA 1 . TTG . 1298.6 NA NA NA NA NA NA NA NA NA 8888863 MUC16 94025 . GRCh38 chr19 8888864 8888864 + Silent SNP G G A rs75422108 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.40635C>T p.Thr13545= p.T13545= ENST00000397910 56/84 NA NA NA NA NA NA MUC16,synonymous_variant,p.Thr13545=,ENST00000397910,NM_024690.2;MUC16,synonymous_variant,p.Thr385=,ENST00000599436,;MUC16,synonymous_variant,p.Thr385=,ENST00000601404,;MUC16,synonymous_variant,p.Thr165=,ENST00000596768,; A ENSG00000181143 ENST00000397910 Transcript synonymous_variant 40839/43816 40635/43524 13545/14507 T acC/acT rs75422108 1 NA -1 MUC16 HGNC HGNC:15582 protein_coding YES CCDS54212.1 ENSP00000381008 Q8WXI7.134 UPI000065CA24 NM_024690.2 56/84 Gene3D:3.30.70.960,Pfam:PF01390,PROSITE_profiles:PS50024,PANTHER:PTHR14672,SMART:SM00200,Superfamily:SSF82671 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA 1 . TGG . 1316.6 4.179e-05 NA 3.552e-05 0.0001402 NA NA 4.037e-05 NA 0.0001241 8888864 MUC16 94025 . GRCh38 chr19 8888878 8888878 + Missense_Mutation SNP C C G rs769311065 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.40621G>C p.Asp13541His p.D13541H ENST00000397910 56/84 NA NA NA NA NA NA MUC16,missense_variant,p.Asp13541His,ENST00000397910,NM_024690.2;MUC16,missense_variant,p.Asp381His,ENST00000599436,;MUC16,missense_variant,p.Asp381His,ENST00000601404,;MUC16,missense_variant,p.Asp161His,ENST00000596768,; G ENSG00000181143 ENST00000397910 Transcript missense_variant 40825/43816 40621/43524 13541/14507 D/H Gat/Cat rs769311065,COSV66692618 1 NA -1 MUC16 HGNC HGNC:15582 protein_coding YES CCDS54212.1 ENSP00000381008 Q8WXI7.134 UPI000065CA24 NM_024690.2 tolerated_low_confidence(0.06) probably_damaging(0.998) 56/84 Gene3D:3.30.70.960,Pfam:PF01390,PROSITE_profiles:PS50024,PANTHER:PTHR14672,SMART:SM00200,Superfamily:SSF82671 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 5 NA 0,1 NA 1 . TCC . 641.6 NA NA NA NA NA NA NA NA NA 8888878 MUC16 94025 . GRCh38 chr19 8888879 8888879 + Silent SNP C C T rs527778271 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.40620G>A p.Lys13540= p.K13540= ENST00000397910 56/84 NA NA NA NA NA NA MUC16,synonymous_variant,p.Lys13540=,ENST00000397910,NM_024690.2;MUC16,synonymous_variant,p.Lys380=,ENST00000599436,;MUC16,synonymous_variant,p.Lys380=,ENST00000601404,;MUC16,synonymous_variant,p.Lys160=,ENST00000596768,; T ENSG00000181143 ENST00000397910 Transcript synonymous_variant 40824/43816 40620/43524 13540/14507 K aaG/aaA rs527778271 1 NA -1 MUC16 HGNC HGNC:15582 protein_coding YES CCDS54212.1 ENSP00000381008 Q8WXI7.134 UPI000065CA24 NM_024690.2 56/84 Gene3D:3.30.70.960,Pfam:PF01390,PROSITE_profiles:PS50024,PANTHER:PTHR14672,SMART:SM00200,Superfamily:SSF82671 2e-04 NA NA NA NA 0.001 NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA 1 . CCT . 326.6 1.944e-05 NA NA NA NA NA 4.167e-05 NA NA 8888879 MUC16 94025 . GRCh38 chr19 8888884 8888884 + Missense_Mutation SNP T T C rs77501519 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.40615A>G p.Lys13539Glu p.K13539E ENST00000397910 56/84 NA NA NA NA NA NA MUC16,missense_variant,p.Lys13539Glu,ENST00000397910,NM_024690.2;MUC16,missense_variant,p.Lys379Glu,ENST00000599436,;MUC16,missense_variant,p.Lys379Glu,ENST00000601404,;MUC16,missense_variant,p.Lys159Glu,ENST00000596768,; C ENSG00000181143 ENST00000397910 Transcript missense_variant 40819/43816 40615/43524 13539/14507 K/E Aag/Gag rs77501519 1 NA -1 MUC16 HGNC HGNC:15582 protein_coding YES CCDS54212.1 ENSP00000381008 Q8WXI7.134 UPI000065CA24 NM_024690.2 tolerated_low_confidence(1) possibly_damaging(0.618) 56/84 Gene3D:3.30.70.960,Pfam:PF01390,PROSITE_profiles:PS50024,PANTHER:PTHR14672,SMART:SM00200,Superfamily:SSF82671 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA 1 . TTG . 312.6 2.97e-05 6.811e-05 3.804e-05 NA NA NA 1.066e-05 NA 0.000142 8888884 MUC16 94025 . GRCh38 chr19 8888885 8888885 + Silent SNP G G A rs770997019 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.40614C>T p.Pro13538= p.P13538= ENST00000397910 56/84 NA NA NA NA NA NA MUC16,synonymous_variant,p.Pro13538=,ENST00000397910,NM_024690.2;MUC16,synonymous_variant,p.Pro378=,ENST00000599436,;MUC16,synonymous_variant,p.Pro378=,ENST00000601404,;MUC16,synonymous_variant,p.Pro158=,ENST00000596768,; A ENSG00000181143 ENST00000397910 Transcript synonymous_variant 40818/43816 40614/43524 13538/14507 P ccC/ccT rs770997019 1 NA -1 MUC16 HGNC HGNC:15582 protein_coding YES CCDS54212.1 ENSP00000381008 Q8WXI7.134 UPI000065CA24 NM_024690.2 56/84 Gene3D:3.30.70.960,Pfam:PF01390,PROSITE_profiles:PS50024,PANTHER:PTHR14672,SMART:SM00200,Superfamily:SSF82671 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA 1 . TGG . 312.6 5.009e-06 NA NA NA NA NA NA NA 4.801e-05 8888885 MUC16 94025 . GRCh38 chr19 8888888 8888888 + Splice_Region SNP C C T rs767254545 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.40611G>A p.Arg13537= p.R13537= ENST00000397910 56/84 NA NA NA NA NA NA MUC16,splice_region_variant,p.Arg13537=,ENST00000397910,NM_024690.2;MUC16,splice_region_variant,p.Arg377=,ENST00000599436,;MUC16,splice_region_variant,p.Arg377=,ENST00000601404,;MUC16,splice_region_variant,p.Arg157=,ENST00000596768,; T ENSG00000181143 ENST00000397910 Transcript splice_region_variant,synonymous_variant 40815/43816 40611/43524 13537/14507 R agG/agA rs767254545 1 NA -1 MUC16 HGNC HGNC:15582 protein_coding YES CCDS54212.1 ENSP00000381008 Q8WXI7.134 UPI000065CA24 NM_024690.2 56/84 Gene3D:3.30.70.960,Pfam:PF01390,PROSITE_profiles:PS50024,PANTHER:PTHR14672,SMART:SM00200,Superfamily:SSF82671 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA 1 . GCC . 423.6 NA NA NA NA NA NA NA NA NA 8888888 MUC16 94025 . GRCh38 chr19 8889493 8889493 + Missense_Mutation SNP C C T rs1419006271 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.40588G>A p.Gly13530Ser p.G13530S ENST00000397910 55/84 NA NA NA NA NA NA MUC16,missense_variant,p.Gly13530Ser,ENST00000397910,NM_024690.2;MUC16,missense_variant,p.Gly370Ser,ENST00000599436,;MUC16,missense_variant,p.Gly370Ser,ENST00000601404,;MUC16,missense_variant,p.Gly150Ser,ENST00000596768,; T ENSG00000181143 ENST00000397910 Transcript missense_variant 40792/43816 40588/43524 13530/14507 G/S Ggc/Agc rs1419006271,COSV66694629 1 NA -1 MUC16 HGNC HGNC:15582 protein_coding YES CCDS54212.1 ENSP00000381008 Q8WXI7.134 UPI000065CA24 NM_024690.2 tolerated_low_confidence(0.31) probably_damaging(0.991) 55/84 Gene3D:3.30.70.960,Pfam:PF01390,PROSITE_profiles:PS50024,PANTHER:PTHR14672,SMART:SM00200,Superfamily:SSF82671 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 5 NA 0,1 NA 1 . CCA . 995.6 NA NA NA NA NA NA NA NA NA 8889493 MUC16 94025 . GRCh38 chr19 8889494 8889494 + Silent SNP A A G rs1160287047 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.40587T>C p.Ser13529= p.S13529= ENST00000397910 55/84 NA NA NA NA NA NA MUC16,synonymous_variant,p.Ser13529=,ENST00000397910,NM_024690.2;MUC16,synonymous_variant,p.Ser369=,ENST00000599436,;MUC16,synonymous_variant,p.Ser369=,ENST00000601404,;MUC16,synonymous_variant,p.Ser149=,ENST00000596768,; G ENSG00000181143 ENST00000397910 Transcript synonymous_variant 40791/43816 40587/43524 13529/14507 S tcT/tcC rs1160287047 1 NA -1 MUC16 HGNC HGNC:15582 protein_coding YES CCDS54212.1 ENSP00000381008 Q8WXI7.134 UPI000065CA24 NM_024690.2 55/84 Gene3D:3.30.70.960,Pfam:PF01390,PROSITE_profiles:PS50024,PANTHER:PTHR14672,SMART:SM00200,Superfamily:SSF82671 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA 1 . CAG . 983.6 NA NA NA NA NA NA NA NA NA 8889494 MUC16 94025 . GRCh38 chr19 8889509 8889509 + Silent SNP A A G rs1467863711 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.40572T>C p.Val13524= p.V13524= ENST00000397910 55/84 NA NA NA NA NA NA MUC16,synonymous_variant,p.Val13524=,ENST00000397910,NM_024690.2;MUC16,synonymous_variant,p.Val364=,ENST00000599436,;MUC16,synonymous_variant,p.Val364=,ENST00000601404,;MUC16,synonymous_variant,p.Val144=,ENST00000596768,; G ENSG00000181143 ENST00000397910 Transcript synonymous_variant 40776/43816 40572/43524 13524/14507 V gtT/gtC rs1467863711 1 NA -1 MUC16 HGNC HGNC:15582 protein_coding YES CCDS54212.1 ENSP00000381008 Q8WXI7.134 UPI000065CA24 NM_024690.2 55/84 Gene3D:3.30.70.960,Pfam:PF01390,PROSITE_profiles:PS50024,PANTHER:PTHR14672,SMART:SM00200,Superfamily:SSF82671 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA 1 . CAA . 1406.6 NA NA NA NA NA NA NA NA NA 8889509 MUC16 94025 . GRCh38 chr19 8889511 8889511 + Missense_Mutation SNP C C T rs994308141 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.40570G>A p.Val13524Ile p.V13524I ENST00000397910 55/84 NA NA NA NA NA NA MUC16,missense_variant,p.Val13524Ile,ENST00000397910,NM_024690.2;MUC16,missense_variant,p.Val364Ile,ENST00000599436,;MUC16,missense_variant,p.Val364Ile,ENST00000601404,;MUC16,missense_variant,p.Val144Ile,ENST00000596768,; T ENSG00000181143 ENST00000397910 Transcript missense_variant 40774/43816 40570/43524 13524/14507 V/I Gtt/Att rs994308141,COSV66694636 1 NA -1 MUC16 HGNC HGNC:15582 protein_coding YES CCDS54212.1 ENSP00000381008 Q8WXI7.134 UPI000065CA24 NM_024690.2 tolerated_low_confidence(0.59) possibly_damaging(0.889) 55/84 Gene3D:3.30.70.960,Pfam:PF01390,PROSITE_profiles:PS50024,PANTHER:PTHR14672,SMART:SM00200,Superfamily:SSF82671 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 5 NA 0,1 NA 1 . ACA . 1364.6 NA NA NA NA NA NA NA NA NA 8889511 MUC16 94025 . GRCh38 chr19 8889518 8889518 + Silent SNP G G A rs1295951744 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.40563C>T p.Asn13521= p.N13521= ENST00000397910 55/84 NA NA NA NA NA NA MUC16,synonymous_variant,p.Asn13521=,ENST00000397910,NM_024690.2;MUC16,synonymous_variant,p.Asn361=,ENST00000599436,;MUC16,synonymous_variant,p.Asn361=,ENST00000601404,;MUC16,synonymous_variant,p.Asn141=,ENST00000596768,; A ENSG00000181143 ENST00000397910 Transcript synonymous_variant 40767/43816 40563/43524 13521/14507 N aaC/aaT rs1295951744 1 NA -1 MUC16 HGNC HGNC:15582 protein_coding YES CCDS54212.1 ENSP00000381008 Q8WXI7.134 UPI000065CA24 NM_024690.2 55/84 Gene3D:3.30.70.960,Pfam:PF01390,PROSITE_profiles:PS50024,PANTHER:PTHR14672,SMART:SM00200,Superfamily:SSF82671 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA 1 . TGT . 1304.6 NA NA NA NA NA NA NA NA NA 8889518 MUC16 94025 . GRCh38 chr19 8889529 8889529 + Missense_Mutation SNP C C A rs763196876 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.40552G>T p.Val13518Leu p.V13518L ENST00000397910 55/84 NA NA NA NA NA NA MUC16,missense_variant,p.Val13518Leu,ENST00000397910,NM_024690.2;MUC16,missense_variant,p.Val358Leu,ENST00000599436,;MUC16,missense_variant,p.Val358Leu,ENST00000601404,;MUC16,missense_variant,p.Val138Leu,ENST00000596768,; A ENSG00000181143 ENST00000397910 Transcript missense_variant 40756/43816 40552/43524 13518/14507 V/L Gtg/Ttg rs763196876,COSV66695749 1 NA -1 MUC16 HGNC HGNC:15582 protein_coding YES CCDS54212.1 ENSP00000381008 Q8WXI7.134 UPI000065CA24 NM_024690.2 tolerated_low_confidence(1) possibly_damaging(0.523) 55/84 Gene3D:3.30.70.960,Pfam:PF01390,PROSITE_profiles:PS50024,PANTHER:PTHR14672,SMART:SM00200,Superfamily:SSF82671 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 5 NA 0,1 NA 1 . ACA . 1559.6 NA NA NA NA NA NA NA NA NA 8889529 MUC16 94025 . GRCh38 chr19 8889530 8889530 + Silent SNP A A G rs1321112843 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.40551T>C p.Pro13517= p.P13517= ENST00000397910 55/84 NA NA NA NA NA NA MUC16,synonymous_variant,p.Pro13517=,ENST00000397910,NM_024690.2;MUC16,synonymous_variant,p.Pro357=,ENST00000599436,;MUC16,synonymous_variant,p.Pro357=,ENST00000601404,;MUC16,synonymous_variant,p.Pro137=,ENST00000596768,; G ENSG00000181143 ENST00000397910 Transcript synonymous_variant 40755/43816 40551/43524 13517/14507 P ccT/ccC rs1321112843 1 NA -1 MUC16 HGNC HGNC:15582 protein_coding YES CCDS54212.1 ENSP00000381008 Q8WXI7.134 UPI000065CA24 NM_024690.2 55/84 Gene3D:3.30.70.960,Pfam:PF01390,PROSITE_profiles:PS50024,PANTHER:PTHR14672,SMART:SM00200,Superfamily:SSF82671 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA 1 . CAG . 1517.6 NA NA NA NA NA NA NA NA NA 8889530 MUC16 94025 . GRCh38 chr19 8898951 8898951 + Silent SNP G G A rs796508010 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.39099C>T p.Ser13033= p.S13033= ENST00000397910 39/84 NA NA NA NA NA NA MUC16,synonymous_variant,p.Ser13033=,ENST00000397910,NM_024690.2;MUC16,upstream_gene_variant,,ENST00000599436,;MUC16,upstream_gene_variant,,ENST00000601404,; A ENSG00000181143 ENST00000397910 Transcript synonymous_variant 39303/43816 39099/43524 13033/14507 S tcC/tcT rs796508010,COSV67487035 1 NA -1 MUC16 HGNC HGNC:15582 protein_coding YES CCDS54212.1 ENSP00000381008 Q8WXI7.134 UPI000065CA24 NM_024690.2 39/84 Gene3D:3.30.70.960,Pfam:PF01390,PROSITE_profiles:PS50024,PANTHER:PTHR14672,SMART:SM00200,Superfamily:SSF82671 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA LOW 1 SNV 5 NA 0,1 NA 1 . TGG . 1665.6 NA NA NA NA NA NA NA NA NA 8898951 MUC16 94025 . GRCh38 chr19 8898954 8898954 + Silent SNP G G T rs796641172 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.39096C>A p.Gly13032= p.G13032= ENST00000397910 39/84 NA NA NA NA NA NA MUC16,synonymous_variant,p.Gly13032=,ENST00000397910,NM_024690.2;MUC16,upstream_gene_variant,,ENST00000599436,;MUC16,upstream_gene_variant,,ENST00000601404,; T ENSG00000181143 ENST00000397910 Transcript synonymous_variant 39300/43816 39096/43524 13032/14507 G ggC/ggA rs796641172 1 NA -1 MUC16 HGNC HGNC:15582 protein_coding YES CCDS54212.1 ENSP00000381008 Q8WXI7.134 UPI000065CA24 NM_024690.2 39/84 Gene3D:3.30.70.960,Pfam:PF01390,PROSITE_profiles:PS50024,PANTHER:PTHR14672,SMART:SM00200,Superfamily:SSF82671 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA 1 . AGC . 1667.6 NA NA NA NA NA NA NA NA NA 8898954 MUC16 94025 . GRCh38 chr19 8898961 8898961 + Missense_Mutation SNP T T C rs766753564 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.39089A>G p.His13030Arg p.H13030R ENST00000397910 39/84 NA NA NA NA NA NA MUC16,missense_variant,p.His13030Arg,ENST00000397910,NM_024690.2;MUC16,upstream_gene_variant,,ENST00000599436,;MUC16,upstream_gene_variant,,ENST00000601404,; C ENSG00000181143 ENST00000397910 Transcript missense_variant 39293/43816 39089/43524 13030/14507 H/R cAc/cGc rs766753564 1 NA -1 MUC16 HGNC HGNC:15582 protein_coding YES CCDS54212.1 ENSP00000381008 Q8WXI7.134 UPI000065CA24 NM_024690.2 tolerated_low_confidence(0.26) benign(0) 39/84 Gene3D:3.30.70.960,Pfam:PF01390,PROSITE_profiles:PS50024,PANTHER:PTHR14672,SMART:SM00200,Superfamily:SSF82671 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA 1 . GTG . 1518.6 8.033e-06 NA NA NA NA NA NA NA 6.538e-05 8898961 MUC16 94025 . GRCh38 chr19 8898976 8898976 + Missense_Mutation SNP C C T rs796671806 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.39074G>A p.Gly13025Glu p.G13025E ENST00000397910 39/84 NA NA NA NA NA NA MUC16,missense_variant,p.Gly13025Glu,ENST00000397910,NM_024690.2;MUC16,upstream_gene_variant,,ENST00000599436,;MUC16,upstream_gene_variant,,ENST00000601404,; T ENSG00000181143 ENST00000397910 Transcript missense_variant 39278/43816 39074/43524 13025/14507 G/E gGg/gAg rs796671806,COSV67488387 1 NA -1 MUC16 HGNC HGNC:15582 protein_coding YES CCDS54212.1 ENSP00000381008 Q8WXI7.134 UPI000065CA24 NM_024690.2 tolerated_low_confidence(1) benign(0) 39/84 Gene3D:3.30.70.960,Pfam:PF01390,PROSITE_profiles:PS50024,PANTHER:PTHR14672,SMART:SM00200,Superfamily:SSF82671 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 5 NA 0,1 NA 1 . CCC . 914.6 NA NA NA NA NA NA NA NA NA 8898976 MUC16 94025 . GRCh38 chr19 8898987 8898987 + Silent SNP A A G rs1457635352 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.39063T>C p.Asn13021= p.N13021= ENST00000397910 39/84 NA NA NA NA NA NA MUC16,synonymous_variant,p.Asn13021=,ENST00000397910,NM_024690.2;MUC16,upstream_gene_variant,,ENST00000599436,;MUC16,upstream_gene_variant,,ENST00000601404,; G ENSG00000181143 ENST00000397910 Transcript synonymous_variant 39267/43816 39063/43524 13021/14507 N aaT/aaC rs1457635352 1 NA -1 MUC16 HGNC HGNC:15582 protein_coding YES CCDS54212.1 ENSP00000381008 Q8WXI7.134 UPI000065CA24 NM_024690.2 39/84 Gene3D:3.30.70.960,Pfam:PF01390,PROSITE_profiles:PS50024,PANTHER:PTHR14672,SMART:SM00200,Superfamily:SSF82671 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA 1 . GAT . 852.6 NA NA NA NA NA NA NA NA NA 8898987 MUC16 94025 . GRCh38 chr19 8898999 8898999 + Silent SNP A A G rs1401764727 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.39051T>C p.Phe13017= p.F13017= ENST00000397910 39/84 NA NA NA NA NA NA MUC16,synonymous_variant,p.Phe13017=,ENST00000397910,NM_024690.2;MUC16,upstream_gene_variant,,ENST00000599436,;MUC16,upstream_gene_variant,,ENST00000601404,; G ENSG00000181143 ENST00000397910 Transcript synonymous_variant 39255/43816 39051/43524 13017/14507 F ttT/ttC rs1401764727,COSV67497160 1 NA -1 MUC16 HGNC HGNC:15582 protein_coding YES CCDS54212.1 ENSP00000381008 Q8WXI7.134 UPI000065CA24 NM_024690.2 39/84 Gene3D:3.30.70.960,Pfam:PF01390,PROSITE_profiles:PS50024,PANTHER:PTHR14672,SMART:SM00200,Superfamily:SSF82671 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA LOW 1 SNV 5 NA 0,1 NA 1 . TAA . 813.6 NA NA NA NA NA NA NA NA NA 8898999 MUC16 94025 . GRCh38 chr19 8899029 8899029 + Silent SNP A A G rs199713185 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.39021T>C p.Val13007= p.V13007= ENST00000397910 39/84 NA NA NA NA NA NA MUC16,synonymous_variant,p.Val13007=,ENST00000397910,NM_024690.2;MUC16,upstream_gene_variant,,ENST00000599436,;MUC16,upstream_gene_variant,,ENST00000601404,; G ENSG00000181143 ENST00000397910 Transcript synonymous_variant 39225/43816 39021/43524 13007/14507 V gtT/gtC rs199713185 1 NA -1 MUC16 HGNC HGNC:15582 protein_coding YES CCDS54212.1 ENSP00000381008 Q8WXI7.134 UPI000065CA24 NM_024690.2 39/84 Gene3D:3.30.70.960,PANTHER:PTHR14672,SMART:SM00200,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA 1 . GAA . 1508.6 NA NA NA NA NA NA NA NA NA 8899029 MUC16 94025 . GRCh38 chr19 8899030 8899030 + Missense_Mutation SNP A A C rs200995334 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.39020T>G p.Val13007Gly p.V13007G ENST00000397910 39/84 NA NA NA NA NA NA MUC16,missense_variant,p.Val13007Gly,ENST00000397910,NM_024690.2;MUC16,upstream_gene_variant,,ENST00000599436,;MUC16,upstream_gene_variant,,ENST00000601404,; C ENSG00000181143 ENST00000397910 Transcript missense_variant 39224/43816 39020/43524 13007/14507 V/G gTt/gGt rs200995334,COSV67476755 1 NA -1 MUC16 HGNC HGNC:15582 protein_coding YES CCDS54212.1 ENSP00000381008 Q8WXI7.134 UPI000065CA24 NM_024690.2 tolerated_low_confidence(0.4) benign(0) 39/84 Gene3D:3.30.70.960,PANTHER:PTHR14672,SMART:SM00200,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 5 NA 0,1 NA 1 . AAC . 1546.6 NA NA NA NA NA NA NA NA NA 8899030 MUC16 94025 . GRCh38 chr19 8899035 8899035 + Splice_Region SNP T T A rs201630664 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.39015A>T p.Thr13005= p.T13005= ENST00000397910 39/84 NA NA NA NA NA NA MUC16,splice_region_variant,p.Thr13005=,ENST00000397910,NM_024690.2;MUC16,upstream_gene_variant,,ENST00000599436,;MUC16,upstream_gene_variant,,ENST00000601404,; A ENSG00000181143 ENST00000397910 Transcript splice_region_variant,synonymous_variant 39219/43816 39015/43524 13005/14507 T acA/acT rs201630664 1 NA -1 MUC16 HGNC HGNC:15582 protein_coding YES CCDS54212.1 ENSP00000381008 Q8WXI7.134 UPI000065CA24 NM_024690.2 39/84 Gene3D:3.30.70.960,PANTHER:PTHR14672,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA 1 . CTG . 1514.6 NA NA NA NA NA NA NA NA NA 8899035 MUC16 94025 . GRCh38 chr19 8935581 8935581 + Missense_Mutation SNP A A G rs868353301 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.35374T>C p.Phe11792Leu p.F11792L ENST00000397910 5/84 NA NA NA NA NA NA MUC16,missense_variant,p.Phe11792Leu,ENST00000397910,NM_024690.2;,regulatory_region_variant,,ENSR00000584013,; G ENSG00000181143 ENST00000397910 Transcript missense_variant 35578/43816 35374/43524 11792/14507 F/L Ttt/Ctt rs868353301 1 NA -1 MUC16 HGNC HGNC:15582 protein_coding YES CCDS54212.1 ENSP00000381008 Q8WXI7.134 UPI000065CA24 NM_024690.2 deleterious_low_confidence(0.05) benign(0.028) 5/84 PANTHER:PTHR14672 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA 1 . AAC . 2286.6 NA NA NA NA NA NA NA NA NA 8935581 ZNF846 162993 . GRCh38 chr19 9762147 9762147 + Missense_Mutation SNP C C T rs547131432 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.164G>A p.Arg55His p.R55H ENST00000397902 4/6 NA NA NA NA NA NA ZNF846,missense_variant,p.Arg55His,ENST00000397902,NM_001353800.1,NM_001353799.1,NM_001077624.2;ZNF846,missense_variant,p.Arg55His,ENST00000586293,;ZNF846,missense_variant,p.Arg54His,ENST00000589412,;ZNF846,missense_variant,p.Arg55His,ENST00000592587,;ZNF846,missense_variant,p.Arg55His,ENST00000586814,;ZNF846,5_prime_UTR_variant,,ENST00000588267,NM_001353798.1;ZNF846,intron_variant,,ENST00000592859,;ZNF846,non_coding_transcript_exon_variant,,ENST00000587650,;ZNF846,downstream_gene_variant,,ENST00000590471,;ZNF846,missense_variant,p.Arg55His,ENST00000589453,;ZNF846,non_coding_transcript_exon_variant,,ENST00000591377,; T ENSG00000196605 ENST00000397902 Transcript missense_variant 578/2016 164/1602 55/533 R/H cGt/cAt rs547131432,COSV101194396 1 NA -1 ZNF846 HGNC HGNC:27260 protein_coding YES CCDS42496.1 ENSP00000380999 Q147U1.117 UPI000041AAC3 NM_001353800.1,NM_001353799.1,NM_001077624.2 tolerated(0.06) benign(0) 4/6 PROSITE_profiles:PS50805,PANTHER:PTHR24377,PANTHER:PTHR24377:SF395,SMART:SM00349,Superfamily:SSF109640 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 1 NA 0,1 NA NA . ACG . 1772.6 4.417e-05 6.491e-05 NA NA 5.567e-05 NA 6.198e-05 NA 6.539e-05 9762147 DNMT1 1786 . GRCh38 chr19 10143956 10143956 + Missense_Mutation SNP G G C novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2878C>G p.Arg960Gly p.R960G ENST00000678804 28/39 NA NA NA NA NA NA DNMT1,missense_variant,p.Arg960Gly,ENST00000676610,;DNMT1,missense_variant,p.Arg960Gly,ENST00000678804,;DNMT1,missense_variant,p.Arg960Gly,ENST00000677946,;DNMT1,missense_variant,p.Arg960Gly,ENST00000340748,NM_001379.4,NM_001318730.2;DNMT1,missense_variant,p.Arg976Gly,ENST00000359526,NM_001318731.2,NM_001130823.3;DNMT1,missense_variant,p.Arg960Gly,ENST00000679103,;DNMT1,missense_variant,p.Arg960Gly,ENST00000679313,;DNMT1,non_coding_transcript_exon_variant,,ENST00000676604,;DNMT1,upstream_gene_variant,,ENST00000589538,;DNMT1,upstream_gene_variant,,ENST00000593049,;DNMT1,upstream_gene_variant,,ENST00000677038,;DNMT1,missense_variant,p.Arg960Gly,ENST00000677634,;DNMT1,missense_variant,p.Arg857Gly,ENST00000677616,;DNMT1,3_prime_UTR_variant,,ENST00000592705,;DNMT1,3_prime_UTR_variant,,ENST00000677013,;DNMT1,3_prime_UTR_variant,,ENST00000677250,;DNMT1,3_prime_UTR_variant,,ENST00000677685,;DNMT1,non_coding_transcript_exon_variant,,ENST00000677783,;DNMT1,non_coding_transcript_exon_variant,,ENST00000678024,;DNMT1,non_coding_transcript_exon_variant,,ENST00000676820,;DNMT1,non_coding_transcript_exon_variant,,ENST00000676868,;DNMT1,non_coding_transcript_exon_variant,,ENST00000678694,;DNMT1,non_coding_transcript_exon_variant,,ENST00000679100,;DNMT1,non_coding_transcript_exon_variant,,ENST00000678647,;DNMT1,non_coding_transcript_exon_variant,,ENST00000586667,;DNMT1,non_coding_transcript_exon_variant,,ENST00000586588,;DNMT1,upstream_gene_variant,,ENST00000587197,;DNMT1,upstream_gene_variant,,ENST00000587604,;DNMT1,upstream_gene_variant,,ENST00000588913,;DNMT1,upstream_gene_variant,,ENST00000589091,;DNMT1,upstream_gene_variant,,ENST00000589351,;DNMT1,upstream_gene_variant,,ENST00000591239,;DNMT1,upstream_gene_variant,,ENST00000678107,;DNMT1,upstream_gene_variant,,ENST00000678239,;DNMT1,upstream_gene_variant,,ENST00000678957,; C ENSG00000130816 ENST00000678804 Transcript missense_variant 2934/5728 2878/4977 960/1658 R/G Cgg/Ggg 1 NA -1 DNMT1 HGNC HGNC:2976 protein_coding YES ENSP00000503853 deleterious(0.02) benign(0.043) 28/39 PIRSF:PIRSF037404,Pfam:PF01426,SMART:SM00439,PANTHER:PTHR10629,PANTHER:PTHR10629:SF11 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV NA NA NA 1 . CGT . 4501.6 NA NA NA NA NA NA NA NA NA 10143956 SLC44A2 57153 . GRCh38 chr19 10627996 10627996 + Frame_Shift_Del DEL A A - rs1430499797 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.242del p.Asn81ThrfsTer13 p.N81Tfs*13 ENST00000586078 4/22 NA NA NA NA NA NA SLC44A2,frameshift_variant,p.Asn81ThrfsTer13,ENST00000586078,NM_001363611.2;SLC44A2,frameshift_variant,p.Asn81ThrfsTer13,ENST00000335757,NM_020428.4;SLC44A2,frameshift_variant,p.Asn79ThrfsTer13,ENST00000407327,NM_001145056.2;SLC44A2,5_prime_UTR_variant,,ENST00000590857,;SLC44A2,intron_variant,,ENST00000588688,;SLC44A2,intron_variant,,ENST00000590382,;SLC44A2,frameshift_variant,p.Asn81ThrfsTer?,ENST00000588409,;SLC44A2,3_prime_UTR_variant,,ENST00000592293,;SLC44A2,intron_variant,,ENST00000588465,;SLC44A2,upstream_gene_variant,,ENST00000588393,; - ENSG00000129353 ENST00000586078 Transcript frameshift_variant 346/3784 237/2136 79/711 T/X acA/ac rs1430499797 1 NA 1 SLC44A2 HGNC HGNC:17292 protein_coding YES CCDS86700.1 ENSP00000466664 Q8IWA5.146 UPI00004DE0D6 NM_001363611.2 4/22 PANTHER:PTHR12385,PANTHER:PTHR12385:SF34 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 5 5 NA NA . ACAA . 1221.6 4.019e-06 6.252e-05 NA NA NA NA NA NA NA 10627995 KANK2 25959 . GRCh38 chr19 11178654 11178654 + Missense_Mutation SNP T T C novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1316A>G p.Gln439Arg p.Q439R ENST00000589359 5/13 NA NA NA NA NA NA KANK2,missense_variant,p.Gln439Arg,ENST00000586659,NM_001379562.1,NM_001379563.1,NM_001136191.3,NM_001329451.2,NM_001379556.1,NM_001379555.1,NM_001379561.1,NM_001379557.1,NM_001379558.1,NM_001379560.1,NM_001379559.1;KANK2,missense_variant,p.Gln439Arg,ENST00000589359,NM_001379552.1,NM_001379553.1,NM_001379554.1,NM_001379550.1,NM_015493.7,NM_001379548.1,NM_001379549.1,NM_001379551.1;KANK2,missense_variant,p.Gln439Arg,ENST00000589894,;KANK2,upstream_gene_variant,,ENST00000588787,;,regulatory_region_variant,,ENSR00000584523,; C ENSG00000197256 ENST00000589359 Transcript missense_variant 1784/3048 1316/2580 439/859 Q/R cAg/cGg 1 NA -1 KANK2 HGNC HGNC:29300 protein_coding YES CCDS54219.1 ENSP00000468002 Q63ZY3.151 UPI00003B5C5D NM_001379552.1,NM_001379553.1,NM_001379554.1,NM_001379550.1,NM_015493.7,NM_001379548.1,NM_001379549.1,NM_001379551.1 tolerated(0.23) benign(0.009) 5/13 MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite,PANTHER:PTHR24168,PANTHER:PTHR24168:SF0 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA 1 . CTG . 3463.6 NA NA NA NA NA NA NA NA NA 11178654 PRKCSH 5589 . GRCh38 chr19 11447508 11447508 + Missense_Mutation SNP G G T rs1470802309 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.919G>T p.Val307Leu p.V307L ENST00000592741 11/18 NA NA NA NA NA NA PRKCSH,missense_variant,p.Val307Leu,ENST00000587327,NM_001289102.1;PRKCSH,missense_variant,p.Val307Leu,ENST00000592741,NM_001289103.1;PRKCSH,missense_variant,p.Val307Leu,ENST00000677123,NM_001289104.2;PRKCSH,missense_variant,p.Val307Leu,ENST00000591462,NM_001001329.2,NM_001379609.1;PRKCSH,missense_variant,p.Val307Leu,ENST00000589838,NM_001379608.1,NM_002743.3;ELAVL3,downstream_gene_variant,,ENST00000359227,NM_001420.4;PRKCSH,upstream_gene_variant,,ENST00000591510,;PRKCSH,non_coding_transcript_exon_variant,,ENST00000585325,;PRKCSH,non_coding_transcript_exon_variant,,ENST00000592445,;PRKCSH,non_coding_transcript_exon_variant,,ENST00000585540,;PRKCSH,upstream_gene_variant,,ENST00000586486,;PRKCSH,upstream_gene_variant,,ENST00000587290,;PRKCSH,downstream_gene_variant,,ENST00000589990,;PRKCSH,upstream_gene_variant,,ENST00000590098,;PRKCSH,upstream_gene_variant,,ENST00000592435,;,regulatory_region_variant,,ENSR00000584618,; T ENSG00000130175 ENST00000592741 Transcript missense_variant 1072/2100 919/1608 307/535 V/L Gtg/Ttg rs1470802309 1 NA 1 PRKCSH HGNC HGNC:9411 protein_coding YES CCDS74286.1 ENSP00000466134 K7ELL7.63 UPI00002033E5 NM_001289103.1 tolerated(0.31) benign(0.001) 11/18 PANTHER:PTHR12630,PANTHER:PTHR12630:SF1,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . AGT . 3790.6 4.04e-06 NA NA NA 5.461e-05 NA NA NA NA 11447508 ZNF653 115950 . GRCh38 chr19 11505746 11505751 + In_Frame_Del DEL GCCTCC GCCTCC - rs759303273 NA HCI-EC-23 NORMAL GCCTCC GCCTCC NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.36_41del p.Glu15_Ala16del p.E15_A16del ENST00000293771 1/9 NA NA NA NA NA NA ZNF653,inframe_deletion,p.Glu15_Ala16del,ENST00000293771,NM_138783.4;ECSIT,downstream_gene_variant,,ENST00000252440,NM_001142464.3;ECSIT,downstream_gene_variant,,ENST00000270517,NM_016581.5;ECSIT,downstream_gene_variant,,ENST00000417981,NM_001142465.3;ECSIT,downstream_gene_variant,,ENST00000585318,;ECSIT,downstream_gene_variant,,ENST00000588998,;ECSIT,downstream_gene_variant,,ENST00000591104,NM_001243204.1;ECSIT,downstream_gene_variant,,ENST00000592312,;ECSIT,downstream_gene_variant,,ENST00000591352,;ZNF653,upstream_gene_variant,,ENST00000593191,;ZNF653,non_coding_transcript_exon_variant,,ENST00000590548,;AC008481.3,upstream_gene_variant,,ENST00000585656,;ECSIT,downstream_gene_variant,,ENST00000585898,;ZNF653,upstream_gene_variant,,ENST00000588541,;ECSIT,downstream_gene_variant,,ENST00000592571,;ECSIT,downstream_gene_variant,,ENST00000593231,;,regulatory_region_variant,,ENSR00000107193,; - ENSG00000161914 ENST00000293771 Transcript inframe_deletion 89-94/2154 36-41/1848 12-14/615 AEA/A gcGGAGGCt/gct rs759303273 1 NA -1 ZNF653 HGNC HGNC:25196 protein_coding YES CCDS12261.1 ENSP00000293771 Q96CK0.152 UPI000006FAFC NM_138783.4 1/9 PANTHER:PTHR46179,PANTHER:PTHR46179:SF9,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 deletion 1 NA NA NA . CAGCCTCCG . 115.6 7.057e-05 NA NA NA NA NA 0.0001242 NA 0.0001068 11505745 CNN1 1264 . GRCh38 chr19 11546893 11546893 + Frame_Shift_Del DEL T T - novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.318del p.Phe106LeufsTer33 p.F106Lfs*33 ENST00000252456 4/7 NA NA NA NA NA NA CNN1,frameshift_variant,p.Phe56LeufsTer33,ENST00000592923,NM_001308341.2,NM_001308342.2;CNN1,frameshift_variant,p.Phe56LeufsTer33,ENST00000535659,;CNN1,frameshift_variant,p.Phe106LeufsTer33,ENST00000252456,NM_001299.6;CNN1,frameshift_variant,p.Phe34LeufsTer33,ENST00000586577,;CNN1,frameshift_variant,p.Phe56LeufsTer33,ENST00000586059,;CNN1,frameshift_variant,p.Phe45LeufsTer33,ENST00000592338,;CNN1,frameshift_variant,p.Phe47LeufsTer30,ENST00000587087,;ELOF1,downstream_gene_variant,,ENST00000586683,;CNN1,upstream_gene_variant,,ENST00000588935,;CNN1,downstream_gene_variant,,ENST00000588468,; - ENSG00000130176 ENST00000252456 Transcript frameshift_variant 391/1499 314/894 105/297 I/X aTt/at 1 NA 1 CNN1 HGNC HGNC:2155 protein_coding YES CCDS12263.1 ENSP00000252456 P51911.171 V9HWA5.39 UPI0000127AE3 NM_001299.6 4/7 PDB-ENSP_mappings:1wyp.A,CDD:cd00014,Gene3D:1.10.418.10,Pfam:PF00307,SMART:SM00033,Superfamily:SSF47576,PROSITE_profiles:PS50021,PANTHER:PTHR18959,PANTHER:PTHR18959:SF43,Prints:PR00888 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 4 NA NA . CATT . 4435.6 NA NA NA NA NA NA NA NA NA 11546892 ZNF441 126068 . GRCh38 chr19 11777658 11777658 + Silent SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.51G>A p.Glu17= p.E17= ENST00000357901 2/4 NA NA NA NA NA NA ZNF441,synonymous_variant,p.Glu17=,ENST00000357901,NM_152355.3;ZNF441,synonymous_variant,p.Glu17=,ENST00000409902,;ZNF441,non_coding_transcript_exon_variant,,ENST00000462251,; A ENSG00000197044 ENST00000357901 Transcript synonymous_variant 245/4448 51/2082 17/693 E gaG/gaA 1 NA 1 ZNF441 HGNC HGNC:20875 protein_coding YES CCDS12266.2 ENSP00000350576 Q8N8Z8.147 UPI000059D677 NM_152355.3 2/4 Pfam:PF01352,PROSITE_profiles:PS50805,PANTHER:PTHR24379,PANTHER:PTHR24379:SF22,SMART:SM00349,Superfamily:SSF109640,CDD:cd07765 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 3 NA NA NA . AGT . 5040.6 NA NA NA NA NA NA NA NA NA 11777658 ZNF878 729747 . GRCh38 chr19 12044689 12044689 + Frame_Shift_Del DEL A A - novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.712del p.Ser238LeufsTer5 p.S238Lfs*5 ENST00000547628 4/4 NA NA NA NA NA NA ZNF878,frameshift_variant,p.Ser238LeufsTer5,ENST00000547628,NM_001080404.3;AC008770.4,intron_variant,,ENST00000652448,;ZNF433-AS1,intron_variant,,ENST00000476474,;ZNF433-AS1,intron_variant,,ENST00000591838,;ZNF433-AS1,intron_variant,,ENST00000591898,;AC008770.1,intron_variant,,ENST00000547473,; - ENSG00000257446 ENST00000547628 Transcript frameshift_variant 872/1756 712/1596 238/531 S/X Tct/ct 1 NA -1 ZNF878 HGNC HGNC:37246 protein_coding YES CCDS45984.2 ENSP00000447931 C9JN71.92 UPI00001D8268 NM_001080404.3 4/4 Gene3D:3.30.160.60,Pfam:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,PANTHER:PTHR24379,PANTHER:PTHR24379:SF45,SMART:SM00355,Superfamily:SSF57667 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 3 NA NA NA . AGAA . 4462.6 NA NA NA NA NA NA NA NA NA 12044688 RTBDN 83546 . GRCh38 chr19 12825830 12825830 + Missense_Mutation SNP A A C novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.662T>G p.Val221Gly p.V221G ENST00000322912 7/7 NA NA NA NA NA NA RTBDN,missense_variant,p.Val221Gly,ENST00000322912,NM_031429.2;RTBDN,missense_variant,p.Val189Gly,ENST00000458671,NM_001080997.2;RTBDN,missense_variant,p.Val199Gly,ENST00000592204,NM_001270442.1,NM_001270441.2;RTBDN,missense_variant,p.Val189Gly,ENST00000674343,;RTBDN,missense_variant,p.Val189Gly,ENST00000393233,NM_001270444.1,NM_001270445.1,NM_001270443.1;RTBDN,missense_variant,p.Val189Gly,ENST00000586969,;RTBDN,missense_variant,p.Val183Gly,ENST00000589681,;RTBDN,3_prime_UTR_variant,,ENST00000589272,NM_001270440.1;RTBDN,downstream_gene_variant,,ENST00000585384,;RTBDN,downstream_gene_variant,,ENST00000587549,;RTBDN,downstream_gene_variant,,ENST00000589567,;RTBDN,downstream_gene_variant,,ENST00000589808,;RTBDN,downstream_gene_variant,,ENST00000590404,;RTBDN,downstream_gene_variant,,ENST00000591512,;AC020934.1,non_coding_transcript_exon_variant,,ENST00000588469,;HOOK2,intron_variant,,ENST00000589765,;,regulatory_region_variant,,ENSR00000584879,;,regulatory_region_variant,,ENSR00000584882,;,TF_binding_site_variant,,ENSM00523358899,;,TF_binding_site_variant,,ENSM00525243428,; C ENSG00000132026 ENST00000322912 Transcript missense_variant 980/1328 662/786 221/261 V/G gTa/gGa 1 NA -1 RTBDN HGNC HGNC:30310 protein_coding YES CCDS12283.1 ENSP00000326253 Q9BSG5.129 UPI000006D823 NM_031429.2 tolerated(0.28) benign(0.015) 7/7 Low_complexity_(Seg):seg,PANTHER:PTHR10517:SF19,PANTHER:PTHR10517 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . TAC . 173.6 NA NA NA NA NA NA NA NA NA 12825830 SYCE2 256126 . GRCh38 chr19 12918329 12918329 + Silent SNP C C T rs372147562 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.24G>A p.Val8= p.V8= ENST00000293695 2/6 NA NA NA NA NA NA SYCE2,synonymous_variant,p.Val8=,ENST00000293695,NM_001105578.2;FARSA,downstream_gene_variant,,ENST00000314606,NM_004461.3;FARSA,downstream_gene_variant,,ENST00000423140,;FARSA,downstream_gene_variant,,ENST00000587488,;FARSA,downstream_gene_variant,,ENST00000588025,;GCDH,downstream_gene_variant,,ENST00000591050,;MIR5695,upstream_gene_variant,,ENST00000579717,;FARSA,downstream_gene_variant,,ENST00000586146,;FARSA,downstream_gene_variant,,ENST00000588965,; T ENSG00000161860 ENST00000293695 Transcript synonymous_variant 60/1248 24/657 8/218 V gtG/gtA rs372147562 1 NA -1 SYCE2 HGNC HGNC:27411 protein_coding YES CCDS42509.1 ENSP00000293695 Q6PIF2.113 UPI00000389A2 NM_001105578.2 2/6 PANTHER:PTHR28398,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA 0.0003546 NA NA NA NA LOW 1 SNV 1 NA NA NA . GCA . 1627.6 0.0001844 6.454e-05 8.689e-05 NA NA NA 0.000371 NA NA 12918329 CACNA1A 773 . GRCh38 chr19 13599774 13599775 + Frame_Shift_Ins INS - - G novel NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.172dup p.Gln58ProfsTer83 p.Q58Pfs*83 ENST00000664864 1/49 NA NA NA NA NA NA CACNA1A,frameshift_variant,p.Gln58ProfsTer83,ENST00000664864,;CACNA1A,frameshift_variant,p.Gln58ProfsTer78,ENST00000592864,;CACNA1A,frameshift_variant,p.Gln58ProfsTer12,ENST00000574974,; G ENSG00000141837 ENST00000664864 Transcript frameshift_variant 172-173/6987 172-173/6987 58/2328 Q/PX cag/cCag 1 NA -1 CACNA1A HGNC HGNC:1388 protein_coding ENSP00000499449 A0A590UJK2.3 UPI00114A3991 1/49 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH NA insertion NA NA NA 1 . CTG . 2272.64 NA NA NA NA NA NA NA NA NA 13599774 DCAF15 90379 . GRCh38 chr19 13959894 13959895 + Frame_Shift_Ins INS - - GGTGGGCCCAGGGCGGGCAG rs3217681 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1440+14_1440+33dup ENST00000254337 9/13 NA NA NA NA NA NA DCAF15,frameshift_variant,,ENST00000254337,NM_138353.3;DCAF15,frameshift_variant,,ENST00000587307,;RFX1,downstream_gene_variant,,ENST00000254325,NM_002918.5;DCAF15,downstream_gene_variant,,ENST00000585468,;DCAF15,splice_region_variant,,ENST00000588523,;RFX1,downstream_gene_variant,,ENST00000588520,;DCAF15,upstream_gene_variant,,ENST00000591385,;,regulatory_region_variant,,ENSR00000585228,; GGTGGGCCCAGGGCGGGCAG ENSG00000132017 ENST00000254337 Transcript frameshift_variant,splice_region_variant 1460-1461/2278 1439-1440/1803 480/600 E/EVGPGRAX gag/gaGGTGGGCCCAGGGCGGGCAGg rs3217681 1 NA 1 DCAF15 HGNC HGNC:25095 protein_coding YES CCDS32926.1 ENSP00000254337 Q66K64.114 UPI0000203531 NM_138353.3 9/13 PDB-ENSP_mappings:6pai.C,PDB-ENSP_mappings:6q0r.C,PDB-ENSP_mappings:6q0v.C,PDB-ENSP_mappings:6q0w.C,PDB-ENSP_mappings:6sj7.A,PDB-ENSP_mappings:6ud7.A,PDB-ENSP_mappings:6ue5.A,PANTHER:PTHR28541 NA 0.2731 0.2277 NA 0.3294 0.2843 0.3957 NA NA NA NA NA NA HIGH 1 insertion 1 NA NA NA . GAG . 1496.06 NA NA NA NA NA NA NA NA NA 13959894 SAMD1 0 . GRCh38 chr19 14090051 14090056 + In_Frame_Del DEL GCGGCG GCGGCG - rs888503195 NA HCI-EC-23 NORMAL GCGGCG GCGGCG NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.365_370del p.Pro122_Pro123del p.P122_P123del ENST00000533683 1/5 NA NA NA NA NA NA SAMD1,inframe_deletion,p.Pro122_Pro123del,ENST00000533683,NM_138352.3;SAMD1,intron_variant,,ENST00000269724,;PRKACA,downstream_gene_variant,,ENST00000308677,NM_002730.4;C19orf67,upstream_gene_variant,,ENST00000343945,;C19orf67,upstream_gene_variant,,ENST00000548523,NM_001277378.2;PRKACA,downstream_gene_variant,,ENST00000587372,;PRKACA,downstream_gene_variant,,ENST00000589994,NM_207518.3;PRKACA,downstream_gene_variant,,ENST00000590853,;PRKACA,downstream_gene_variant,,ENST00000677951,NM_001304349.1;PRKACA,downstream_gene_variant,,ENST00000350356,;SAMD1,downstream_gene_variant,,ENST00000541938,;C19orf67,upstream_gene_variant,,ENST00000547589,;PRKACA,downstream_gene_variant,,ENST00000588209,;PRKACA,downstream_gene_variant,,ENST00000677971,;,regulatory_region_variant,,ENSR00000107489,; - ENSG00000141858 ENST00000533683 Transcript inframe_deletion 696-701/2196 365-370/1299 122-124/432 PPQ/Q cCGCCGCag/cag rs888503195 1 NA -1 SAMD1 HGNC HGNC:17958 protein_coding YES ENSP00000431971 E9PIW9.58 UPI0000366D4A NM_138352.3 1/5 Low_complexity_(Seg):seg,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite,PANTHER:PTHR12247:SF99,PANTHER:PTHR12247 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 deletion 1 NA NA NA . CTGCGGCGG . 103.6 NA NA NA NA NA NA NA NA NA 14090050 SAMD1 0 . GRCh38 chr19 14090276 14090276 + Missense_Mutation SNP G G A rs1223005001 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.145C>T p.Pro49Ser p.P49S ENST00000533683 1/5 NA NA NA NA NA NA SAMD1,missense_variant,p.Pro49Ser,ENST00000533683,NM_138352.3;SAMD1,intron_variant,,ENST00000269724,;PRKACA,downstream_gene_variant,,ENST00000308677,NM_002730.4;C19orf67,upstream_gene_variant,,ENST00000343945,;C19orf67,upstream_gene_variant,,ENST00000548523,NM_001277378.2;PRKACA,downstream_gene_variant,,ENST00000587372,;PRKACA,downstream_gene_variant,,ENST00000589994,NM_207518.3;PRKACA,downstream_gene_variant,,ENST00000590853,;PRKACA,downstream_gene_variant,,ENST00000677951,NM_001304349.1;PRKACA,downstream_gene_variant,,ENST00000350356,;SAMD1,downstream_gene_variant,,ENST00000541938,;C19orf67,upstream_gene_variant,,ENST00000547589,;PRKACA,downstream_gene_variant,,ENST00000588209,;PRKACA,downstream_gene_variant,,ENST00000677971,;,regulatory_region_variant,,ENSR00000107489,; A ENSG00000141858 ENST00000533683 Transcript missense_variant 476/2196 145/1299 49/432 P/S Ccg/Tcg rs1223005001 1 NA -1 SAMD1 HGNC HGNC:17958 protein_coding YES ENSP00000431971 E9PIW9.58 UPI0000366D4A NM_138352.3 deleterious(0) benign(0.234) 1/5 PANTHER:PTHR12247:SF99,PANTHER:PTHR12247 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . GGC . 3090.6 1.078e-05 NA NA NA NA NA 3.217e-05 NA NA 14090276 AKAP8 10270 . GRCh38 chr19 15372320 15372320 + Missense_Mutation SNP C C T rs981491959 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.889G>A p.Gly297Arg p.G297R ENST00000269701 6/14 NA NA NA NA NA NA AKAP8,missense_variant,p.Gly297Arg,ENST00000269701,NM_005858.4;AKAP8,missense_variant,p.Gly111Arg,ENST00000598597,;AKAP8,3_prime_UTR_variant,,ENST00000599883,;AKAP8,non_coding_transcript_exon_variant,,ENST00000537303,;AKAP8,downstream_gene_variant,,ENST00000595416,; T ENSG00000105127 ENST00000269701 Transcript missense_variant 945/3665 889/2079 297/692 G/R Gga/Aga rs981491959 1 NA -1 AKAP8 HGNC HGNC:378 protein_coding YES CCDS12329.1 ENSP00000269701 O43823.176 UPI000012575C NM_005858.4 tolerated(0.18) probably_damaging(0.999) 6/14 PANTHER:PTHR12190,PANTHER:PTHR12190:SF6,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CCG . 2254.6 1.591e-05 6.155e-05 NA NA NA NA 2.638e-05 NA NA 15372320 CYP4F3 4051 . GRCh38 chr19 15649226 15649226 + Missense_Mutation SNP A A G NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.592A>G p.Met198Val p.M198V ENST00000221307 6/13 NA NA NA NA NA NA CYP4F3,missense_variant,p.Met198Val,ENST00000221307,NM_000896.3;CYP4F3,missense_variant,p.Met198Val,ENST00000591058,NM_001199208.2;CYP4F3,missense_variant,p.Met198Val,ENST00000586182,NM_001199209.2;CYP4F3,missense_variant,p.Met198Val,ENST00000585846,NM_001369696.1;CYP4F3,non_coding_transcript_exon_variant,,ENST00000592279,;CYP4F3,downstream_gene_variant,,ENST00000587360,;CYP4F3,upstream_gene_variant,,ENST00000592424,;CYP4F3,downstream_gene_variant,,ENST00000609670,; G ENSG00000186529 ENST00000221307 Transcript missense_variant 642/5053 592/1563 198/520 M/V Atg/Gtg COSV55407212 1 NA 1 CYP4F3 HGNC HGNC:2646 protein_coding YES CCDS12332.1 ENSP00000221307 Q08477.189 A0A024R7J8.46 UPI0000052BE3 NM_000896.3 deleterious(0.02) possibly_damaging(0.58) 6/13 PANTHER:PTHR24291,PANTHER:PTHR24291:SF133,Pfam:PF00067,Gene3D:1.10.630.10,Superfamily:SSF48264 NA NA NA NA NA NA NA NA NA 1 NA NA NA NA MODERATE 1 SNV 1 NA 1 NA NA . CAT . 4983.6 NA NA NA NA NA NA NA NA NA 15649226 CYP4F2 8529 . GRCh38 chr19 15892311 15892311 + Missense_Mutation SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.523C>T p.His175Tyr p.H175Y ENST00000221700 5/13 NA NA NA NA NA NA CYP4F2,missense_variant,p.His175Tyr,ENST00000221700,NM_001082.5;CYP4F2,missense_variant,p.His175Tyr,ENST00000011989,;CYP4F2,downstream_gene_variant,,ENST00000586927,;CYP4F2,splice_region_variant,,ENST00000392846,;CYP4F2,splice_region_variant,,ENST00000587671,;CYP4F2,downstream_gene_variant,,ENST00000608168,; A ENSG00000186115 ENST00000221700 Transcript missense_variant,splice_region_variant 573/2361 523/1563 175/520 H/Y Cac/Tac 1 NA -1 CYP4F2 HGNC HGNC:2645 protein_coding YES CCDS12336.1 ENSP00000221700 P78329.184 UPI0000052BE6 NM_001082.5 deleterious(0.03) probably_damaging(0.99) 5/13 Gene3D:1.10.630.10,Pfam:PF00067,PANTHER:PTHR24291,PANTHER:PTHR24291:SF133,Superfamily:SSF48264 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . TGC . 3418.6 NA NA NA NA NA NA NA NA NA 15892311 CALR3 125972 . GRCh38 chr19 16485252 16485252 + Missense_Mutation SNP C C T rs143932873 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.403G>A p.Asp135Asn p.D135N ENST00000269881 4/9 NA NA NA NA NA NA CALR3,missense_variant,p.Asp135Asn,ENST00000269881,NM_145046.5;CALR3,missense_variant,p.Asp64Asn,ENST00000600762,;CALR3,upstream_gene_variant,,ENST00000602234,;AC008764.1,intron_variant,,ENST00000409035,; T ENSG00000269058 ENST00000269881 Transcript missense_variant 441/1263 403/1155 135/384 D/N Gat/Aat rs143932873 1 NA -1 CALR3 HGNC HGNC:20407 protein_coding YES CCDS12344.1 ENSP00000269881 Q96L12.170 A0A140VJF7.23 UPI000013D85C NM_145046.5 deleterious(0) probably_damaging(0.999) 4/9 PANTHER:PTHR11073,PANTHER:PTHR11073:SF3,PROSITE_patterns:PS00804,Pfam:PF00262,Gene3D:2.60.120.200,PIRSF:PIRSF002356,Superfamily:SSF49899,Prints:PR00626 NA NA NA NA NA NA NA 0.0002272 0.0001163 uncertain_significance NA NA NA NA MODERATE 1 SNV 1 NA 1 NA 1 . TCG . 404.6 7.62e-05 0.0001244 NA NA 5.453e-05 NA 0.0001422 NA NA 16485252 NWD1 284434 . GRCh38 chr19 16744521 16744521 + Missense_Mutation SNP A A C novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.299A>C p.Asp100Ala p.D100A ENST00000552788 3/18 NA NA NA NA NA NA NWD1,missense_variant,p.Asp100Ala,ENST00000673803,;NWD1,missense_variant,p.Asp100Ala,ENST00000524140,NM_001007525.5;NWD1,missense_variant,p.Asp100Ala,ENST00000379808,;NWD1,missense_variant,p.Asp100Ala,ENST00000552788,NM_001290355.3,NM_001347994.1;NWD1,missense_variant,p.Asp100Ala,ENST00000549814,;NWD1,non_coding_transcript_exon_variant,,ENST00000673671,;NWD1,missense_variant,p.Asp100Ala,ENST00000518676,;NWD1,3_prime_UTR_variant,,ENST00000646016,;NWD1,3_prime_UTR_variant,,ENST00000438489,;NWD1,non_coding_transcript_exon_variant,,ENST00000674033,; C ENSG00000188039 ENST00000552788 Transcript missense_variant 299/6964 299/4695 100/1564 D/A gAc/gCc 1 NA 1 NWD1 HGNC HGNC:27619 protein_coding YES ENSP00000447224 Q149M9.112 UPI0001AE63B7 NM_001290355.3,NM_001347994.1 tolerated(0.3) benign(0.098) 3/18 PANTHER:PTHR45013 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . GAC . 6857.6 NA NA NA NA NA NA NA NA NA 16744521 SIN3B 23309 . GRCh38 chr19 16865588 16865588 + Missense_Mutation SNP C C T rs201411175 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1658C>T p.Pro553Leu p.P553L ENST00000379803 12/20 NA NA NA NA NA NA SIN3B,missense_variant,p.Pro553Leu,ENST00000379803,NM_015260.4;SIN3B,missense_variant,p.Pro521Leu,ENST00000248054,NM_001297595.2;SIN3B,missense_variant,p.Pro111Leu,ENST00000595541,NM_001297597.1;SIN3B,downstream_gene_variant,,ENST00000596638,;SIN3B,non_coding_transcript_exon_variant,,ENST00000599880,;SIN3B,upstream_gene_variant,,ENST00000595900,;SIN3B,non_coding_transcript_exon_variant,,ENST00000594372,;SIN3B,upstream_gene_variant,,ENST00000602204,; T ENSG00000127511 ENST00000379803 Transcript missense_variant 1672/5129 1658/3489 553/1162 P/L cCg/cTg rs201411175 1 NA 1 SIN3B HGNC HGNC:19354 protein_coding YES CCDS32946.1 ENSP00000369131 O75182.173 UPI0000425EFA NM_015260.4 deleterious(0.05) benign(0.047) 12/20 PANTHER:PTHR12346,PANTHER:PTHR12346:SF1 NA NA NA NA NA NA NA 0.000227 0.0001163 NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CCG . 4683.6 5.2e-05 0.0001244 2.902e-05 NA 5.447e-05 NA 5.307e-05 NA 9.849e-05 16865588 F2RL3 9002 . GRCh38 chr19 16890620 16890620 + Silent SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1157G>A p.Ter386= p.*386= ENST00000248076 2/2 NA NA NA NA NA NA F2RL3,stop_retained_variant,p.Ter386=,ENST00000248076,NM_003950.4;CPAMD8,downstream_gene_variant,,ENST00000388925,;CPAMD8,downstream_gene_variant,,ENST00000443236,NM_015692.5;CPAMD8,downstream_gene_variant,,ENST00000594249,;CPAMD8,downstream_gene_variant,,ENST00000598792,;F2RL3,downstream_gene_variant,,ENST00000599210,;CPAMD8,downstream_gene_variant,,ENST00000651564,;CPAMD8,downstream_gene_variant,,ENST00000597335,;CPAMD8,downstream_gene_variant,,ENST00000598547,;CPAMD8,downstream_gene_variant,,ENST00000602132,;CPAMD8,downstream_gene_variant,,ENST00000596224,;CPAMD8,downstream_gene_variant,,ENST00000597709,;CPAMD8,downstream_gene_variant,,ENST00000600235,;CPAMD8,downstream_gene_variant,,ENST00000601782,;,regulatory_region_variant,,ENSR00000586042,; A ENSG00000127533 ENST00000248076 Transcript stop_retained_variant 1348/3334 1157/1158 386/385 * tGa/tAa 1 NA 1 F2RL3 HGNC HGNC:3540 protein_coding YES CCDS12350.1 ENSP00000248076 Q96RI0.169 UPI000013CC36 NM_003950.4 2/2 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . TGA . 5119.6 NA NA NA NA NA NA NA NA NA 16890620 USHBP1 83878 . GRCh38 chr19 17262861 17262862 + Frame_Shift_Ins INS - - G novel NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.332dup p.Gly112TrpfsTer78 p.G112Wfs*78 ENST00000252597 4/13 NA NA NA NA NA NA USHBP1,frameshift_variant,p.Gly112TrpfsTer78,ENST00000252597,NM_031941.4,NM_001321417.2;USHBP1,frameshift_variant,p.Gly48TrpfsTer78,ENST00000431146,NM_001297703.2;USHBP1,frameshift_variant,p.Gly112TrpfsTer?,ENST00000594190,;BABAM1,upstream_gene_variant,,ENST00000359435,NM_001033549.2,NM_001288756.1;BABAM1,upstream_gene_variant,,ENST00000447614,NM_001288757.1;BABAM1,upstream_gene_variant,,ENST00000595632,;BABAM1,upstream_gene_variant,,ENST00000596335,;BABAM1,upstream_gene_variant,,ENST00000598188,NM_014173.4;USHBP1,downstream_gene_variant,,ENST00000598309,;BABAM1,upstream_gene_variant,,ENST00000599057,;BABAM1,upstream_gene_variant,,ENST00000599474,;BABAM1,upstream_gene_variant,,ENST00000601043,;BABAM1,upstream_gene_variant,,ENST00000601436,;USHBP1,non_coding_transcript_exon_variant,,ENST00000598570,;USHBP1,non_coding_transcript_exon_variant,,ENST00000595993,;BABAM1,upstream_gene_variant,,ENST00000448635,;USHBP1,frameshift_variant,p.Gly112TrpfsTer78,ENST00000324554,;USHBP1,3_prime_UTR_variant,,ENST00000597928,;BABAM1,upstream_gene_variant,,ENST00000594247,;BABAM1,upstream_gene_variant,,ENST00000595393,;USHBP1,downstream_gene_variant,,ENST00000596436,;AC010463.1,upstream_gene_variant,,ENST00000596542,;USHBP1,downstream_gene_variant,,ENST00000600286,;BABAM1,upstream_gene_variant,,ENST00000601171,;,regulatory_region_variant,,ENSR00000107866,; G ENSG00000130307 ENST00000252597 Transcript frameshift_variant 455-456/3289 332-333/2112 111/703 P/PX cct/ccCt 1 NA -1 USHBP1 HGNC HGNC:24058 protein_coding YES CCDS12353.1 ENSP00000252597 Q8N6Y0.132 A0A024R7H3.48 UPI000006F7A8 NM_031941.4,NM_001321417.2 4/13 PANTHER:PTHR23347:SF5,PANTHER:PTHR23347 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 insertion 1 NA NA NA . CAG . 4016.64 NA NA NA NA NA NA NA NA NA 17262861 MAP1S 55201 . GRCh38 chr19 17727058 17727058 + Silent SNP G G A rs780978936 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1674G>A p.Ala558= p.A558= ENST00000324096 5/7 NA NA NA NA NA NA MAP1S,synonymous_variant,p.Ala532=,ENST00000544059,NM_001308363.1;MAP1S,synonymous_variant,p.Ala558=,ENST00000324096,NM_018174.6;MAP1S,intron_variant,,ENST00000597735,;MAP1S,downstream_gene_variant,,ENST00000594625,;MAP1S,upstream_gene_variant,,ENST00000597000,;MAP1S,downstream_gene_variant,,ENST00000600186,;AC008761.1,downstream_gene_variant,,ENST00000595363,;MAP1S,intron_variant,,ENST00000597681,;MAP1S,downstream_gene_variant,,ENST00000594340,;MAP1S,downstream_gene_variant,,ENST00000595338,;MAP1S,downstream_gene_variant,,ENST00000597067,;MAP1S,upstream_gene_variant,,ENST00000598756,;MAP1S,downstream_gene_variant,,ENST00000598916,;MAP1S,downstream_gene_variant,,ENST00000599494,;MAP1S,downstream_gene_variant,,ENST00000601544,;MAP1S,downstream_gene_variant,,ENST00000593593,;MAP1S,downstream_gene_variant,,ENST00000594212,;MAP1S,downstream_gene_variant,,ENST00000594365,;MAP1S,downstream_gene_variant,,ENST00000596637,;MAP1S,downstream_gene_variant,,ENST00000598769,;MAP1S,downstream_gene_variant,,ENST00000600608,; A ENSG00000130479 ENST00000324096 Transcript synonymous_variant 1697/3288 1674/3180 558/1059 A gcG/gcA rs780978936 1 NA 1 MAP1S HGNC HGNC:15715 protein_coding YES CCDS32954.1 ENSP00000325313 Q66K74.138 UPI00002036F9 NM_018174.6 5/7 PANTHER:PTHR13843,PANTHER:PTHR13843:SF11,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . CGG . 6128.6 4.484e-06 NA NA NA NA NA NA 0.0001806 NA 17727058 FCHO1 23149 . GRCh38 chr19 17772727 17772727 + Missense_Mutation SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.797G>A p.Gly266Asp p.G266D ENST00000597512 7/25 NA NA NA NA NA NA FCHO1,missense_variant,p.Gly259Asp,ENST00000594202,NM_001161357.2;FCHO1,missense_variant,p.Gly259Asp,ENST00000596536,NM_015122.3;FCHO1,missense_variant,p.Gly259Asp,ENST00000252771,;FCHO1,missense_variant,p.Gly259Asp,ENST00000600676,NM_001161358.2;FCHO1,missense_variant,p.Gly259Asp,ENST00000596951,;FCHO1,missense_variant,p.Gly266Asp,ENST00000597512,;FCHO1,missense_variant,p.Gly209Asp,ENST00000595033,NM_001161359.2;FCHO1,missense_variant,p.Gly259Asp,ENST00000595023,;FCHO1,downstream_gene_variant,,ENST00000593833,;FCHO1,downstream_gene_variant,,ENST00000594068,;FCHO1,downstream_gene_variant,,ENST00000595549,;FCHO1,downstream_gene_variant,,ENST00000596507,;FCHO1,downstream_gene_variant,,ENST00000597474,;FCHO1,downstream_gene_variant,,ENST00000597718,;FCHO1,downstream_gene_variant,,ENST00000600209,;FCHO1,non_coding_transcript_exon_variant,,ENST00000600393,;FCHO1,intron_variant,,ENST00000597076,;FCHO1,upstream_gene_variant,,ENST00000596522,;FCHO1,upstream_gene_variant,,ENST00000599766,;FCHO1,upstream_gene_variant,,ENST00000602111,;,regulatory_region_variant,,ENSR00000586293,; A ENSG00000130475 ENST00000597512 Transcript missense_variant 808/2934 797/2691 266/896 G/D gGc/gAc 1 NA 1 FCHO1 HGNC HGNC:29002 protein_coding YES ENSP00000470568 M0QZI3.65 UPI00018923F5 deleterious(0) probably_damaging(0.95) 7/25 Gene3D:1.20.1270.60,PANTHER:PTHR23065,PANTHER:PTHR23065:SF6,Superfamily:SSF103657,CDD:cd07674 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . GGC . 2050.6 NA NA NA NA NA NA NA NA NA 17772727 ISYNA1 51477 . GRCh38 chr19 18436108 18436108 + Missense_Mutation SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.899G>A p.Gly300Asp p.G300D ENST00000338128 7/11 NA NA NA NA NA NA ISYNA1,missense_variant,p.Gly300Asp,ENST00000338128,NM_016368.5;ISYNA1,missense_variant,p.Gly246Asp,ENST00000457269,NM_001170938.2;ISYNA1,missense_variant,p.Gly172Asp,ENST00000578963,NM_001253389.1;SSBP4,downstream_gene_variant,,ENST00000270061,NM_032627.5;SSBP4,downstream_gene_variant,,ENST00000348495,NM_001009998.4;ISYNA1,downstream_gene_variant,,ENST00000578352,;ISYNA1,upstream_gene_variant,,ENST00000581672,;ISYNA1,downstream_gene_variant,,ENST00000581800,;ISYNA1,downstream_gene_variant,,ENST00000583534,;SSBP4,downstream_gene_variant,,ENST00000593641,;SSBP4,downstream_gene_variant,,ENST00000597724,;SSBP4,downstream_gene_variant,,ENST00000599699,;SSBP4,downstream_gene_variant,,ENST00000601357,;SSBP4,downstream_gene_variant,,ENST00000602088,;SSBP4,downstream_gene_variant,,ENST00000598159,;SSBP4,downstream_gene_variant,,ENST00000600628,;ISYNA1,3_prime_UTR_variant,,ENST00000582811,;ISYNA1,3_prime_UTR_variant,,ENST00000582770,;ISYNA1,3_prime_UTR_variant,,ENST00000577820,;ISYNA1,non_coding_transcript_exon_variant,,ENST00000577916,;ISYNA1,non_coding_transcript_exon_variant,,ENST00000583816,;ISYNA1,upstream_gene_variant,,ENST00000582287,;ISYNA1,upstream_gene_variant,,ENST00000583309,;SSBP4,downstream_gene_variant,,ENST00000600244,;SSBP4,downstream_gene_variant,,ENST00000601444,;SSBP4,downstream_gene_variant,,ENST00000601614,;SSBP4,downstream_gene_variant,,ENST00000601919,;SSBP4,downstream_gene_variant,,ENST00000607020,; T ENSG00000105655 ENST00000338128 Transcript missense_variant 949/2252 899/1677 300/558 G/D gGc/gAc 1 NA -1 ISYNA1 HGNC HGNC:29821 protein_coding YES CCDS12379.1 ENSP00000337746 Q9NPH2.160 A0A140VK73.18 UPI00000424BB NM_016368.5 deleterious(0) probably_damaging(0.997) 7/11 PANTHER:PTHR11510:SF5,PANTHER:PTHR11510,PIRSF:PIRSF015578,Pfam:PF07994,Gene3D:3.40.50.720,Superfamily:SSF51735 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . GCC . 8932.6 NA NA NA NA NA NA NA NA NA 18436108 COPE 11316 . GRCh38 chr19 18907015 18907015 + Missense_Mutation SNP C C T rs377582503 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.388G>A p.Asp130Asn p.D130N ENST00000600932 4/11 NA NA NA NA NA NA COPE,missense_variant,p.Asp130Asn,ENST00000600932,NM_001330469.2;COPE,missense_variant,p.Asp130Asn,ENST00000262812,NM_007263.4;COPE,missense_variant,p.Asp130Asn,ENST00000349893,NM_199444.2;COPE,intron_variant,,ENST00000351079,NM_199442.2;COPE,intron_variant,,ENST00000598969,;COPE,upstream_gene_variant,,ENST00000595984,;COPE,downstream_gene_variant,,ENST00000597646,;COPE,downstream_gene_variant,,ENST00000599964,;AC002985.1,3_prime_UTR_variant,,ENST00000596918,;AC002985.1,3_prime_UTR_variant,,ENST00000593484,;COPE,non_coding_transcript_exon_variant,,ENST00000597026,;COPE,intron_variant,,ENST00000593827,; T ENSG00000105669 ENST00000600932 Transcript missense_variant 420/1144 388/996 130/331 D/N Gac/Aac rs377582503 1 NA -1 COPE HGNC HGNC:2234 protein_coding YES CCDS82321.1 ENSP00000469035 M0QXB4.63 UPI0000D4C920 NM_001330469.2 deleterious(0.04) benign(0.013) 4/11 Gene3D:1.25.40.10,Pfam:PF04733,PIRSF:PIRSF016478,PANTHER:PTHR10805 NA NA NA NA NA NA NA 0.0002274 NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . TCG . 7321.6 4.612e-06 NA NA NA NA NA 1.039e-05 NA NA 18907015 HOMER3 9454 . GRCh38 chr19 18932961 18932961 + Missense_Mutation SNP T T C rs562250340 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.496A>G p.Thr166Ala p.T166A ENST00000539827 5/9 NA NA NA NA NA NA HOMER3,missense_variant,p.Thr166Ala,ENST00000539827,;HOMER3,missense_variant,p.Thr166Ala,ENST00000542541,NM_001145722.2;HOMER3,missense_variant,p.Thr166Ala,ENST00000392351,NM_004838.4;HOMER3,missense_variant,p.Thr166Ala,ENST00000433218,NM_001145721.1;HOMER3,missense_variant,p.Thr166Ala,ENST00000221222,;HOMER3,missense_variant,p.Thr130Ala,ENST00000594439,NM_001145724.1;HOMER3,missense_variant,p.Thr166Ala,ENST00000596482,;HOMER3,intron_variant,,ENST00000594794,;DDX49,downstream_gene_variant,,ENST00000247003,NM_019070.5;HOMER3,downstream_gene_variant,,ENST00000600077,;AC002985.1,missense_variant,p.Thr61Ala,ENST00000596918,;AC002985.1,missense_variant,p.Thr61Ala,ENST00000593484,;HOMER3,non_coding_transcript_exon_variant,,ENST00000595756,;DDX49,downstream_gene_variant,,ENST00000595858,;DDX49,downstream_gene_variant,,ENST00000596502,;DDX49,downstream_gene_variant,,ENST00000598277,;DDX49,downstream_gene_variant,,ENST00000602113,;DDX49,downstream_gene_variant,,ENST00000629999,;,regulatory_region_variant,,ENSR00000586725,; C ENSG00000051128 ENST00000539827 Transcript missense_variant 1149/1979 496/1086 166/361 T/A Aca/Gca rs562250340 1 NA -1 HOMER3 HGNC HGNC:17514 protein_coding YES CCDS12391.1 ENSP00000439937 Q9NSC5.176 UPI0000140C32 tolerated(0.6) benign(0) 5/9 MobiDB_lite:mobidb-lite,PANTHER:PTHR10918,PANTHER:PTHR10918:SF4 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . GTG . 2288.6 NA NA NA NA NA NA NA NA NA 18932961 NCAN 1463 . GRCh38 chr19 19226698 19226698 + Missense_Mutation SNP C C A novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1285C>A p.Leu429Ile p.L429I ENST00000252575 7/15 NA NA NA NA NA NA NCAN,missense_variant,p.Leu429Ile,ENST00000252575,NM_004386.3;NCAN,upstream_gene_variant,,ENST00000590187,; A ENSG00000130287 ENST00000252575 Transcript missense_variant 1399/6402 1285/3966 429/1321 L/I Ctc/Atc 1 NA 1 NCAN HGNC HGNC:2465 protein_coding YES CCDS12397.1 ENSP00000252575 O14594.178 A0A024R7M3.55 UPI000013CD70 NM_004386.3 tolerated(0.57) benign(0.099) 7/15 PANTHER:PTHR22804,PANTHER:PTHR22804:SF24 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CCT . 7806.6 NA NA NA NA NA NA NA NA NA 19226698 LPAR2 9170 . GRCh38 chr19 19624566 19624566 + Missense_Mutation SNP G G A rs773028909 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.746C>T p.Ala249Val p.A249V ENST00000542587 6/6 NA NA NA NA NA NA LPAR2,missense_variant,p.Ala249Val,ENST00000542587,;LPAR2,missense_variant,p.Ala249Val,ENST00000586703,;LPAR2,missense_variant,p.Ala249Val,ENST00000407877,NM_004720.7;GMIP,downstream_gene_variant,,ENST00000203556,NM_016573.4;LPAR2,downstream_gene_variant,,ENST00000588233,;LPAR2,downstream_gene_variant,,ENST00000588461,;LPAR2,downstream_gene_variant,,ENST00000591042,;LPAR2,downstream_gene_variant,,ENST00000592061,;LPAR2,downstream_gene_variant,,ENST00000589311,;LPAR2,downstream_gene_variant,,ENST00000590629,;,regulatory_region_variant,,ENSR00001023175,; A ENSG00000064547 ENST00000542587 Transcript missense_variant 1649/2546 746/1056 249/351 A/V gCg/gTg rs773028909 1 NA -1 LPAR2 HGNC HGNC:3168 protein_coding YES CCDS12407.1 ENSP00000443256 Q9HBW0.161 A0A024R7M9.43 UPI0000048FD7 tolerated(0.21) benign(0.177) 6/6 Transmembrane_helices:TMhelix,CDD:cd15342,Pfam:PF00001,Gene3D:1.20.1070.10,SMART:SM01381,Superfamily:SSF81321,PROSITE_profiles:PS50262,PANTHER:PTHR22750:SF38,PANTHER:PTHR22750,Prints:PR00237 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE NA SNV 2 NA NA NA . CGC . 874.6 4.3e-06 6.365e-05 NA NA NA NA NA NA NA 19624566 ZNF714 148206 . GRCh38 chr19 21116969 21116971 + In_Frame_Del DEL ATA ATA - rs36125838 NA HCI-EC-23 NORMAL ATA ATA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.307_309del p.Asn103del p.N103del ENST00000456283 5/5 NA NA NA NA NA NA ZNF714,inframe_deletion,p.Asn103del,ENST00000456283,NM_182515.4;ZNF714,inframe_deletion,p.Asn73del,ENST00000618422,;ZNF714,inframe_deletion,p.Asn102del,ENST00000618008,;ZNF714,3_prime_UTR_variant,,ENST00000425625,;ZNF714,3_prime_UTR_variant,,ENST00000620627,;ZNF714,5_prime_UTR_variant,,ENST00000616183,;ZNF714,intron_variant,,ENST00000596053,;ZNF714,inframe_deletion,p.Asn103del,ENST00000610902,;ZNF714,3_prime_UTR_variant,,ENST00000613286,;RNA5SP469,upstream_gene_variant,,ENST00000364165,; - ENSG00000160352 ENST00000456283 Transcript inframe_deletion 627-629/8752 305-307/1668 102-103/555 YN/Y tATAat/tat rs36125838 1 NA 1 ZNF714 HGNC HGNC:27124 protein_coding YES CCDS54239.1 ENSP00000478345 A0A087WU35.44 UPI0001278283 NM_182515.4 5/5 PANTHER:PTHR24381,PANTHER:PTHR24381:SF295 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 deletion 2 2 NA NA . TTATAA . 2307.6 NA NA NA NA NA NA NA NA NA 21116968 ZNF99 7652 . GRCh38 chr19 22757463 22757463 + Missense_Mutation SNP A A G rs878954375 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2173T>C p.Ser725Pro p.S725P ENST00000397104 5/8 NA NA NA NA NA NA ZNF99,missense_variant,p.Ser816Pro,ENST00000596209,NM_001080409.3;ZNF99,missense_variant,p.Ser725Pro,ENST00000397104,; G ENSG00000213973 ENST00000397104 Transcript missense_variant 2173/3114 2173/3114 725/1037 S/P Tcc/Ccc rs878954375,COSV68055348 1 NA -1 ZNF99 HGNC HGNC:13175 protein_coding YES ENSP00000380293 A0A0A0MS76.44 UPI0001AE6427 tolerated(1) benign(0) 5/8 Gene3D:3.30.160.60,PROSITE_profiles:PS50157,PANTHER:PTHR24399,PANTHER:PTHR24399,PANTHER:PTHR24399:SF11,PANTHER:PTHR24399:SF11,Superfamily:SSF57667 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 5 NA 0,1 NA NA . GAT . 2179.6 8.213e-06 6.807e-05 NA NA NA NA NA 0.0001681 NA 22757463 URI1 8725 . GRCh38 chr19 30009234 30009239 + In_Frame_Del DEL GATGAC GATGAC - rs775535103 NA HCI-EC-23 NORMAL GATGAC GATGAC NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.918_923del p.Asp310_Asp311del p.D310_D311del ENST00000392271 8/11 NA NA NA NA NA NA URI1,inframe_deletion,p.Asp310_Asp311del,ENST00000392271,NM_003796.3;URI1,inframe_deletion,p.Asp292_Asp293del,ENST00000360605,NM_001252641.2;URI1,inframe_deletion,p.Asp57_Asp58del,ENST00000575242,;URI1,upstream_gene_variant,,ENST00000573052,;URI1,downstream_gene_variant,,ENST00000574233,;URI1,downstream_gene_variant,,ENST00000576442,;URI1,downstream_gene_variant,,ENST00000570704,;URI1,downstream_gene_variant,,ENST00000574176,;URI1,3_prime_UTR_variant,,ENST00000574110,;URI1,downstream_gene_variant,,ENST00000574666,; - ENSG00000105176 ENST00000392271 Transcript inframe_deletion 1225-1230/3460 916-921/1608 306-307/535 DD/- GATGAC/- rs775535103 1 NA 1 URI1 HGNC HGNC:13236 protein_coding YES CCDS12420.1 ENSP00000376097 O94763.166 UPI00001604C8 NM_003796.3 8/11 Low_complexity_(Seg):seg,PANTHER:PTHR15111 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 deletion 1 2 NA NA . ATGATGACG . 2123.6 0.0001124 NA 0.0001162 NA NA 9.396e-05 0.00016 NA 0.0001313 30009233 TSHZ3 57616 . GRCh38 chr19 31276582 31276582 + Missense_Mutation SNP G G A NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3211C>T p.His1071Tyr p.H1071Y ENST00000240587 2/2 NA NA NA NA NA NA TSHZ3,missense_variant,p.His1071Tyr,ENST00000240587,NM_020856.4;TSHZ3,intron_variant,,ENST00000651361,;TSHZ3,downstream_gene_variant,,ENST00000560707,; A ENSG00000121297 ENST00000240587 Transcript missense_variant 3428/5065 3211/3246 1071/1081 H/Y Cac/Tac COSV53663099,COSV99552192 1 NA -1 TSHZ3 HGNC HGNC:30700 protein_coding YES CCDS12421.2 ENSP00000240587 Q63HK5.158 UPI0000202000 NM_020856.4 deleterious(0) probably_damaging(0.979) 2/2 PANTHER:PTHR12487,PANTHER:PTHR12487:SF5 NA NA NA NA NA NA NA NA NA 1,1 NA NA NA NA MODERATE 1 SNV 1 NA 1,1 NA NA . TGG . 2838.6 NA NA NA NA NA NA NA NA NA 31276582 TSHZ3 57616 . GRCh38 chr19 31278155 31278156 + Frame_Shift_Ins INS - - C rs750388867 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1637dup p.Tyr547LeufsTer35 p.Y547Lfs*35 ENST00000240587 2/2 NA NA NA NA NA NA TSHZ3,frameshift_variant,p.Tyr547LeufsTer35,ENST00000240587,NM_020856.4;TSHZ3,intron_variant,,ENST00000651361,;TSHZ3,downstream_gene_variant,,ENST00000560707,; C ENSG00000121297 ENST00000240587 Transcript frameshift_variant 1854-1855/5065 1637-1638/3246 546/1081 G/GX ggc/ggGc rs750388867 1 NA -1 TSHZ3 HGNC HGNC:30700 protein_coding YES CCDS12421.2 ENSP00000240587 Q63HK5.158 UPI0000202000 NM_020856.4 2/2 PANTHER:PTHR12487,PANTHER:PTHR12487:SF5 NA NA NA NA NA NA NA 0.0009381 0.0008481 NA NA NA NA HIGH 1 insertion 1 NA NA NA . AGC . 5596.64 7.957e-06 NA 2.891e-05 NA NA NA 8.798e-06 NA NA 31278155 GPI 2821 . GRCh38 chr19 34399292 34399292 + Missense_Mutation SNP C C G rs199570323 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1472C>G p.Ala491Gly p.A491G ENST00000415930 16/19 NA NA NA NA NA NA GPI,missense_variant,p.Ala491Gly,ENST00000415930,NM_001289789.1;GPI,missense_variant,p.Ala452Gly,ENST00000356487,NM_001329909.1,NM_001329910.1,NM_000175.5,NM_001329911.2,NM_001289790.3;GPI,missense_variant,p.Ala463Gly,ENST00000588991,NM_001184722.1;GPI,intron_variant,,ENST00000586425,;AC092073.1,intron_variant,,ENST00000592740,;AC092073.1,upstream_gene_variant,,ENST00000606020,;GPI,non_coding_transcript_exon_variant,,ENST00000643067,;GPI,3_prime_UTR_variant,,ENST00000647446,;GPI,non_coding_transcript_exon_variant,,ENST00000586077,;GPI,non_coding_transcript_exon_variant,,ENST00000586392,;GPI,downstream_gene_variant,,ENST00000589985,; G ENSG00000105220 ENST00000415930 Transcript missense_variant 1642/4341 1472/1794 491/597 A/G gCg/gGg rs199570323 1 NA 1 GPI HGNC HGNC:4458 protein_coding YES CCDS86742.1 ENSP00000405573 A0A2U3TZU2.12 UPI0001C10DD7 NM_001289789.1 tolerated_low_confidence(0.05) benign(0.003) 16/19 HAMAP:MF_00473,PROSITE_profiles:PS51463,CDD:cd05016,PANTHER:PTHR11469:SF3,PANTHER:PTHR11469,Pfam:PF00342,Gene3D:3.40.50.10490,Superfamily:SSF53697 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 2 NA NA 1 . GCG . 5210.6 3.982e-05 NA 5.783e-05 NA NA NA 6.164e-05 0.0001631 NA 34399292 LSR 51599 . GRCh38 chr19 35249131 35249131 + Missense_Mutation SNP G G T novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.253G>T p.Ala85Ser p.A85S ENST00000621372 1/10 NA NA NA NA NA NA LSR,missense_variant,p.Ala85Ser,ENST00000602122,NM_001260489.1;LSR,missense_variant,p.Ala85Ser,ENST00000621372,NM_205834.3;LSR,missense_variant,p.Ala85Ser,ENST00000361790,;LSR,missense_variant,p.Ala85Ser,ENST00000354900,NM_015925.6;LSR,missense_variant,p.Ala85Ser,ENST00000360798,NM_205835.3;LSR,missense_variant,p.Ala37Ser,ENST00000605618,;LSR,missense_variant,p.Ala37Ser,ENST00000427250,NM_001260490.1;LSR,intron_variant,,ENST00000347609,;LSR,intron_variant,,ENST00000602003,;LSR,upstream_gene_variant,,ENST00000599658,;LSR,upstream_gene_variant,,ENST00000601623,;AC002128.2,downstream_gene_variant,,ENST00000604161,;LSR,splice_region_variant,,ENST00000602044,;LSR,intron_variant,,ENST00000597933,;,regulatory_region_variant,,ENSR00000108980,;,TF_binding_site_variant,,ENSM00189072733,;,TF_binding_site_variant,,ENSM00522734071,; T ENSG00000105699 ENST00000621372 Transcript missense_variant,splice_region_variant 476/2274 253/1950 85/649 A/S Gct/Tct 1 NA 1 LSR HGNC HGNC:29572 protein_coding YES CCDS12450.1 ENSP00000480821 Q86X29.167 UPI000003117A NM_205834.3 tolerated(0.06) benign(0.103) 1/10 PANTHER:PTHR15923,PANTHER:PTHR15923:SF1 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . AGG . 603.6 NA NA NA NA NA NA NA NA NA 35249131 LSR 51599 . GRCh38 chr19 35266364 35266364 + Missense_Mutation SNP G G A rs1300730806 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.928G>A p.Ala310Thr p.A310T ENST00000621372 6/10 NA NA NA NA NA NA LSR,missense_variant,p.Ala291Thr,ENST00000602122,NM_001260489.1;LSR,missense_variant,p.Ala310Thr,ENST00000621372,NM_205834.3;LSR,missense_variant,p.Ala310Thr,ENST00000361790,;LSR,missense_variant,p.Ala291Thr,ENST00000354900,NM_015925.6;LSR,missense_variant,p.Ala242Thr,ENST00000360798,NM_205835.3;LSR,missense_variant,p.Ala262Thr,ENST00000605618,;LSR,missense_variant,p.Ala273Thr,ENST00000347609,;LSR,missense_variant,p.Ala154Thr,ENST00000427250,NM_001260490.1;LSR,missense_variant,p.Ala94Thr,ENST00000599658,;USF2,upstream_gene_variant,,ENST00000222305,NM_003367.4;USF2,upstream_gene_variant,,ENST00000343550,NM_207291.3;USF2,upstream_gene_variant,,ENST00000379134,NM_001321150.2;USF2,upstream_gene_variant,,ENST00000594064,;USF2,upstream_gene_variant,,ENST00000595068,;USF2,upstream_gene_variant,,ENST00000596380,;USF2,upstream_gene_variant,,ENST00000598058,;USF2,upstream_gene_variant,,ENST00000599471,;USF2,upstream_gene_variant,,ENST00000599625,;LSR,downstream_gene_variant,,ENST00000601623,;AC002128.1,downstream_gene_variant,,ENST00000602262,;LSR,downstream_gene_variant,,ENST00000597933,;USF2,upstream_gene_variant,,ENST00000600341,;USF2,upstream_gene_variant,,ENST00000593708,;LSR,upstream_gene_variant,,ENST00000597446,;USF2,upstream_gene_variant,,ENST00000597671,;USF2,upstream_gene_variant,,ENST00000602164,;USF2,upstream_gene_variant,,ENST00000607959,; A ENSG00000105699 ENST00000621372 Transcript missense_variant 1151/2274 928/1950 310/649 A/T Gcc/Acc rs1300730806 1 NA 1 LSR HGNC HGNC:29572 protein_coding YES CCDS12450.1 ENSP00000480821 Q86X29.167 UPI000003117A NM_205834.3 tolerated(0.2) benign(0.218) 6/10 PANTHER:PTHR15923,PANTHER:PTHR15923:SF1 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . TGC . 1592.6 NA NA NA NA NA NA NA NA NA 35266364 MAG 4099 . GRCh38 chr19 35300232 35300232 + Frame_Shift_Del DEL C C - novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.803del p.Pro268ArgfsTer4 p.P268Rfs*4 ENST00000392213 6/11 NA NA NA NA NA NA MAG,frameshift_variant,p.Pro268ArgfsTer4,ENST00000361922,NM_080600.2;MAG,frameshift_variant,p.Pro268ArgfsTer4,ENST00000392213,NM_002361.4;MAG,frameshift_variant,p.Pro243ArgfsTer4,ENST00000537831,NM_001199216.1;MAG,downstream_gene_variant,,ENST00000595791,;MAG,downstream_gene_variant,,ENST00000597035,;MAG,downstream_gene_variant,,ENST00000600291,; - ENSG00000105695 ENST00000392213 Transcript frameshift_variant 921/2357 798/1881 266/626 N/X aaC/aa 1 NA 1 MAG HGNC HGNC:6783 protein_coding YES CCDS12455.1 ENSP00000376048 P20916.196 UPI000012EB2F NM_002361.4 6/11 PROSITE_profiles:PS50835,CDD:cd00096,PANTHER:PTHR12035,PANTHER:PTHR12035:SF54,Gene3D:2.60.40.10,Pfam:PF13927,SMART:SM00409,SMART:SM00408,Superfamily:SSF48726 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 5 NA 1 . AACC . 4005.6 NA NA NA NA NA NA NA NA NA 35300231 RBM42 79171 . GRCh38 chr19 35634279 35634279 + Silent SNP C C T rs757357963 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1041C>T p.Asp347= p.D347= ENST00000262633 8/10 NA NA NA NA NA NA RBM42,synonymous_variant,p.Asp347=,ENST00000262633,NM_024321.5;RBM42,synonymous_variant,p.Asp317=,ENST00000588161,NM_001319113.1;RBM42,synonymous_variant,p.Asp325=,ENST00000589871,;RBM42,synonymous_variant,p.Asp293=,ENST00000592202,;RBM42,synonymous_variant,p.Asp318=,ENST00000589559,;RBM42,intron_variant,,ENST00000586618,;RBM42,downstream_gene_variant,,ENST00000592526,; T ENSG00000126254 ENST00000262633 Transcript synonymous_variant 1159/1692 1041/1443 347/480 D gaC/gaT rs757357963 1 NA 1 RBM42 HGNC HGNC:28117 protein_coding YES CCDS12468.1 ENSP00000262633 Q9BTD8.149 UPI000006D046 NM_024321.5 8/10 Gene3D:3.30.70.330,PDB-ENSP_mappings:6qw6.R,PDB-ENSP_mappings:6qx9.R,PANTHER:PTHR24012,PANTHER:PTHR24012:SF685,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . ACA . 3123.6 1.193e-05 NA NA NA NA NA 2.638e-05 NA NA 35634279 KMT2B 9757 . GRCh38 chr19 35730459 35730460 + Frame_Shift_Ins INS - - T novel NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.5196dup p.Gly1733TrpfsTer6 p.G1733Wfs*6 ENST00000420124 24/37 NA NA NA NA NA NA KMT2B,frameshift_variant,p.Gly1733TrpfsTer6,ENST00000420124,NM_014727.3;KMT2B,frameshift_variant,p.Gly1711TrpfsTer6,ENST00000673918,;KMT2B,3_prime_UTR_variant,,ENST00000674114,;KMT2B,upstream_gene_variant,,ENST00000585476,;KMT2B,upstream_gene_variant,,ENST00000592092,;KMT2B,downstream_gene_variant,,ENST00000673946,; T ENSG00000272333 ENST00000420124 Transcript frameshift_variant 5210-5211/8485 5194-5195/8148 1732/2715 I/IX att/aTtt 1 NA 1 KMT2B HGNC HGNC:15840 protein_coding YES CCDS46055.1 ENSP00000398837 Q9UMN6.209 UPI00001376B5 NM_014727.3 24/37 Gene3D:3.30.160.360,PIRSF:PIRSF010354,PROSITE_profiles:PS51542,PANTHER:PTHR45838,PANTHER:PTHR45838:SF3 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 insertion 1 2 NA 1 . CAT . 5386.64 NA NA NA NA NA NA NA NA NA 35730459 PSENEN 55851 . GRCh38 chr19 35746419 35746419 + Missense_Mutation SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.62G>A p.Gly21Glu p.G21E ENST00000587708 3/4 NA NA NA NA NA NA PSENEN,missense_variant,p.Gly21Glu,ENST00000587708,NM_172341.4,NM_001281532.3;PSENEN,missense_variant,p.Gly21Glu,ENST00000591949,;PSENEN,missense_variant,p.Gly21Glu,ENST00000222266,;IGFLR1,upstream_gene_variant,,ENST00000246532,NM_024660.4;U2AF1L4,upstream_gene_variant,,ENST00000292879,NM_001369824.2,NM_144987.4;LIN37,upstream_gene_variant,,ENST00000301159,NM_019104.3,NM_001369780.1;U2AF1L4,upstream_gene_variant,,ENST00000378975,NM_001040425.3;U2AF1L4,upstream_gene_variant,,ENST00000412391,;IGFLR1,upstream_gene_variant,,ENST00000586140,;LIN37,upstream_gene_variant,,ENST00000587751,;U2AF1L4,upstream_gene_variant,,ENST00000587886,;IGFLR1,upstream_gene_variant,,ENST00000588992,NM_001346003.2;IGFLR1,upstream_gene_variant,,ENST00000592537,;AD000671.3,downstream_gene_variant,,ENST00000585365,;AD000671.3,downstream_gene_variant,,ENST00000591091,;U2AF1L4,upstream_gene_variant,,ENST00000588100,;LIN37,upstream_gene_variant,,ENST00000591076,;AD000671.1,missense_variant,p.Gly21Glu,ENST00000591613,;U2AF1L4,upstream_gene_variant,,ENST00000585554,;U2AF1L4,upstream_gene_variant,,ENST00000585771,;U2AF1L4,upstream_gene_variant,,ENST00000586476,;LIN37,upstream_gene_variant,,ENST00000587108,;U2AF1L4,upstream_gene_variant,,ENST00000587987,;IGFLR1,upstream_gene_variant,,ENST00000588018,;U2AF1L4,upstream_gene_variant,,ENST00000588892,;U2AF1L4,upstream_gene_variant,,ENST00000588980,;IGFLR1,upstream_gene_variant,,ENST00000589175,;U2AF1L4,upstream_gene_variant,,ENST00000589429,;AD000671.2,upstream_gene_variant,,ENST00000589807,;U2AF1L4,upstream_gene_variant,,ENST00000590135,;U2AF1L4,upstream_gene_variant,,ENST00000590650,;LIN37,upstream_gene_variant,,ENST00000590706,;U2AF1L4,upstream_gene_variant,,ENST00000591057,;U2AF1L4,upstream_gene_variant,,ENST00000591084,;U2AF1L4,upstream_gene_variant,,ENST00000591855,;LIN37,upstream_gene_variant,,ENST00000592871,;U2AF1L4,upstream_gene_variant,,ENST00000592913,;U2AF1L4,upstream_gene_variant,,ENST00000594792,;LIN37,upstream_gene_variant,,ENST00000595455,;U2AF1L4,upstream_gene_variant,,ENST00000600296,;U2AF1L4,upstream_gene_variant,,ENST00000601236,;,regulatory_region_variant,,ENSR00000109059,; A ENSG00000205155 ENST00000587708 Transcript missense_variant,splice_region_variant 208/1124 62/306 21/101 G/E gGg/gAg 1 NA 1 PSENEN HGNC HGNC:30100 protein_coding YES CCDS12474.1 ENSP00000468411 Q9NZ42.163 UPI000006FFC1 NM_172341.4,NM_001281532.3 deleterious(0.02) probably_damaging(1) 3/4 PDB-ENSP_mappings:5a63.D,PDB-ENSP_mappings:5fn2.D,PDB-ENSP_mappings:5fn3.D,PDB-ENSP_mappings:5fn4.D,PDB-ENSP_mappings:5fn5.D,PDB-ENSP_mappings:6idf.D,PDB-ENSP_mappings:6iyc.D,Transmembrane_helices:TMhelix,PANTHER:PTHR16318,Pfam:PF10251 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . GGG . 1963.6 NA NA NA NA NA NA NA NA NA 35746419 KIRREL2 84063 . GRCh38 chr19 35860664 35860664 + Silent SNP C C T rs754059297 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.925C>T p.Leu309= p.L309= ENST00000360202 7/15 NA NA NA NA NA NA KIRREL2,synonymous_variant,p.Leu309=,ENST00000360202,NM_199180.4,NM_001329530.2;KIRREL2,synonymous_variant,p.Leu309=,ENST00000592409,NM_001363667.2;KIRREL2,synonymous_variant,p.Leu259=,ENST00000347900,NM_199179.4;KIRREL2,synonymous_variant,p.Leu309=,ENST00000262625,NM_032123.7;KIRREL2,downstream_gene_variant,,ENST00000586102,;NPHS1,intron_variant,,ENST00000591817,; T ENSG00000126259 ENST00000360202 Transcript synonymous_variant 1134/2980 925/2127 309/708 L Ctg/Ttg rs754059297 1 NA 1 KIRREL2 HGNC HGNC:18816 protein_coding YES CCDS12481.1 ENSP00000353331 Q6UWL6.148 UPI0000048F5B NM_199180.4,NM_001329530.2 7/15 PANTHER:PTHR11640:SF51,PANTHER:PTHR11640,Gene3D:2.60.40.10,SMART:SM00409 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . GCT . 5015.6 4.111e-06 NA NA NA 5.449e-05 NA NA NA NA 35860664 ZNF567 163081 . GRCh38 chr19 36718970 36718970 + Silent SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.246C>T p.Asp82= p.D82= ENST00000536254 6/6 NA NA NA NA NA NA ZNF567,synonymous_variant,p.Asp51=,ENST00000585696,;ZNF567,synonymous_variant,p.Asp82=,ENST00000536254,NM_001322913.1,NM_001322920.1,NM_001300979.2,NM_001322914.1,NM_001322918.1,NM_001322917.1,NM_001322919.1,NM_001322915.1,NM_001322916.1;ZNF567,synonymous_variant,p.Asp51=,ENST00000360729,NM_001322912.1,NM_152603.5,NM_001322911.2;ZNF567,synonymous_variant,p.Asp51=,ENST00000588311,NM_001363651.1;ZNF567,intron_variant,,ENST00000589264,;ZNF850,intron_variant,,ENST00000589390,;ZNF567,intron_variant,,ENST00000591308,; T ENSG00000189042 ENST00000536254 Transcript synonymous_variant 468/2825 246/1944 82/647 D gaC/gaT 1 NA 1 ZNF567 HGNC HGNC:28696 protein_coding YES CCDS74349.1 ENSP00000441838 Q8N184.160 UPI000022A7F5 NM_001322913.1,NM_001322920.1,NM_001300979.2,NM_001322914.1,NM_001322918.1,NM_001322917.1,NM_001322919.1,NM_001322915.1,NM_001322916.1 6/6 PANTHER:PTHR24381,PANTHER:PTHR24381:SF307 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 2 NA NA NA . ACT . 476.6 NA NA NA NA NA NA NA NA NA 36718970 WDR87 83889 . GRCh38 chr19 37885395 37885395 + Frame_Shift_Del DEL T T - rs1555756562 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.8276del p.Lys2759ArgfsTer57 p.K2759Rfs*57 ENST00000447313 6/6 NA NA NA NA NA NA WDR87,frameshift_variant,p.Lys2759ArgfsTer57,ENST00000447313,NM_001291088.2;WDR87,frameshift_variant,p.Lys2720ArgfsTer57,ENST00000303868,NM_031951.5;,regulatory_region_variant,,ENSR00000288278,; - ENSG00000171804 ENST00000447313 Transcript frameshift_variant 8418/8990 8276/8739 2759/2912 K/X aAg/ag rs1555756562 1 NA -1 WDR87 HGNC HGNC:29934 protein_coding YES CCDS74356.1 ENSP00000405012 E7ESW6.75 UPI0003EAEFEF NM_001291088.2 6/6 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 2 NA NA NA . CCTT . 4911.6 6.401e-06 NA NA NA NA NA NA 0.0002262 NA 37885394 YIF1B 90522 . GRCh38 chr19 38305394 38305394 + Silent SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.903G>A p.Gln301= p.Q301= ENST00000339413 8/8 NA NA NA NA NA NA YIF1B,synonymous_variant,p.Gln301=,ENST00000339413,NM_001039673.3,NM_001039672.3;YIF1B,synonymous_variant,p.Gln270=,ENST00000392124,;YIF1B,synonymous_variant,p.Gln270=,ENST00000592694,;YIF1B,synonymous_variant,p.Gln286=,ENST00000329420,NM_001145461.2,NM_001039671.3;YIF1B,synonymous_variant,p.Gln270=,ENST00000591784,NM_001145462.2;YIF1B,synonymous_variant,p.Gln235=,ENST00000592246,;YIF1B,3_prime_UTR_variant,,ENST00000337679,NM_001145463.2;C19orf33,downstream_gene_variant,,ENST00000301246,NM_033520.3;YIF1B,downstream_gene_variant,,ENST00000587039,;AC011479.1,downstream_gene_variant,,ENST00000587519,;YIF1B,downstream_gene_variant,,ENST00000588002,;C19orf33,downstream_gene_variant,,ENST00000588605,NM_001317801.2;YIF1B,downstream_gene_variant,,ENST00000589247,;YIF1B,downstream_gene_variant,,ENST00000591755,;AC011479.1,downstream_gene_variant,,ENST00000591889,;YIF1B,downstream_gene_variant,,ENST00000587361,;YIF1B,non_coding_transcript_exon_variant,,ENST00000586319,;YIF1B,non_coding_transcript_exon_variant,,ENST00000589151,;YIF1B,downstream_gene_variant,,ENST00000585563,;YIF1B,downstream_gene_variant,,ENST00000589644,;C19orf33,downstream_gene_variant,,ENST00000589986,;C19orf33,downstream_gene_variant,,ENST00000591852,;,regulatory_region_variant,,ENSR00001024290,; T ENSG00000167645 ENST00000339413 Transcript synonymous_variant 933/2769 903/945 301/314 Q caG/caA 1 NA -1 YIF1B HGNC HGNC:30511 protein_coding YES CCDS33010.1 ENSP00000343435 Q5BJH7.112 UPI00005AB2F2 NM_001039673.3,NM_001039672.3 8/8 Transmembrane_helices:TMhelix,PANTHER:PTHR14083:SF1,PANTHER:PTHR14083,Pfam:PF03878 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . GCT . 6331.6 NA NA NA NA NA NA NA NA NA 38305394 SPRED3 399473 . GRCh38 chr19 38388558 38388558 + Frame_Shift_Del DEL G G - rs1175680870 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.65del p.Gly22ValfsTer6 p.G22Vfs*6 ENST00000587013 1/5 NA NA NA NA NA NA SPRED3,frameshift_variant,p.Gly22ValfsTer6,ENST00000587013,;PSMD8,downstream_gene_variant,,ENST00000215071,;GGN,upstream_gene_variant,,ENST00000334928,NM_152657.4;SPRED3,upstream_gene_variant,,ENST00000338502,NM_001042522.2;SPRED3,upstream_gene_variant,,ENST00000586301,;GGN,upstream_gene_variant,,ENST00000586599,;GGN,upstream_gene_variant,,ENST00000587676,;SPRED3,upstream_gene_variant,,ENST00000587947,;PSMD8,downstream_gene_variant,,ENST00000602911,;PSMD8,downstream_gene_variant,,ENST00000620216,NM_002812.4;AC005789.1,downstream_gene_variant,,ENST00000585411,;SPRED3,upstream_gene_variant,,ENST00000587564,;GGN,upstream_gene_variant,,ENST00000591809,;GGN,upstream_gene_variant,,ENST00000585737,;SPRED3,upstream_gene_variant,,ENST00000586958,;SPRED3,upstream_gene_variant,,ENST00000590962,;,regulatory_region_variant,,ENSR00000109275,; - ENSG00000188766 ENST00000587013 Transcript frameshift_variant 138/1539 60/1365 20/454 L/X ctG/ct rs1175680870 1 NA 1 SPRED3 HGNC HGNC:31041 protein_coding YES ENSP00000467540 K7EPU5.46 UPI0002840CE1 1/5 PROSITE_profiles:PS50229,PANTHER:PTHR11202,PANTHER:PTHR11202:SF19 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH NA deletion 5 5 NA NA . CTGG . 702.6 NA NA NA NA NA NA NA NA NA 38388557 RYR1 6261 . GRCh38 chr19 38565203 38565203 + Missense_Mutation SNP C C T rs755065800 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.12869C>T p.Ala4290Val p.A4290V ENST00000359596 91/106 NA NA NA NA NA NA RYR1,missense_variant,p.Ala4290Val,ENST00000359596,NM_000540.3;RYR1,missense_variant,p.Ala4285Val,ENST00000355481,NM_001042723.2;RYR1,upstream_gene_variant,,ENST00000593677,;RYR1,3_prime_UTR_variant,,ENST00000594335,;,regulatory_region_variant,,ENSR00000589604,; T ENSG00000196218 ENST00000359596 Transcript missense_variant 13008/15400 12869/15117 4290/5038 A/V gCg/gTg rs755065800 1 NA 1 RYR1 HGNC HGNC:10483 protein_coding YES CCDS33011.1 ENSP00000352608 P21817.226 UPI0000D7E62F NM_000540.3 tolerated(0.53) benign(0.009) 91/106 PANTHER:PTHR13715,PANTHER:PTHR13715:SF15,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA likely_benign,uncertain_significance NA NA NA NA MODERATE 1 SNV 5 NA 1 NA 1 . GCG . 4378.6 NA NA NA NA NA NA NA NA NA 38565203 TIMM50 92609 . GRCh38 chr19 39480755 39480755 + Missense_Mutation SNP G G T novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.211G>T p.Val71Phe p.V71F ENST00000544017 1/11 NA NA NA NA NA NA TIMM50,missense_variant,p.Val71Phe,ENST00000544017,;SUPT5H,downstream_gene_variant,,ENST00000359191,;SUPT5H,downstream_gene_variant,,ENST00000402194,NM_001130825.1,NM_001319991.2;SUPT5H,downstream_gene_variant,,ENST00000432763,NM_001111020.3,NM_001130824.2,NM_001319990.2;TIMM50,upstream_gene_variant,,ENST00000594583,;TIMM50,upstream_gene_variant,,ENST00000597666,;SUPT5H,downstream_gene_variant,,ENST00000598725,NM_003169.3;SUPT5H,downstream_gene_variant,,ENST00000599117,;TIMM50,upstream_gene_variant,,ENST00000599794,;TIMM50,upstream_gene_variant,,ENST00000601403,;TIMM50,upstream_gene_variant,,ENST00000602028,;TIMM50,upstream_gene_variant,,ENST00000607714,NM_001001563.5,NM_001329559.2;TIMM50,5_prime_UTR_variant,,ENST00000601358,;TIMM50,upstream_gene_variant,,ENST00000595286,;TIMM50,upstream_gene_variant,,ENST00000595961,;TIMM50,upstream_gene_variant,,ENST00000596239,;TIMM50,upstream_gene_variant,,ENST00000597782,;TIMM50,upstream_gene_variant,,ENST00000598125,;TIMM50,upstream_gene_variant,,ENST00000599733,;SUPT5H,downstream_gene_variant,,ENST00000600818,;TIMM50,upstream_gene_variant,,ENST00000602265,;,regulatory_region_variant,,ENSR00000109433,;,TF_binding_site_variant,,ENSM00049700751,;,TF_binding_site_variant,,ENSM00202498415,;,TF_binding_site_variant,,ENSM00049208182,;,TF_binding_site_variant,,ENSM00206051883,;,TF_binding_site_variant,,ENSM00000369814,;,TF_binding_site_variant,,ENSM00000123050,;,TF_binding_site_variant,,ENSM00046888374,;,TF_binding_site_variant,,ENSM00049437988,;,TF_binding_site_variant,,ENSM00206100421,;,TF_binding_site_variant,,ENSM00195022320,;,TF_binding_site_variant,,ENSM00048102143,;,TF_binding_site_variant,,ENSM00193974436,;,TF_binding_site_variant,,ENSM00195471616,;,TF_binding_site_variant,,ENSM00051254587,; T ENSG00000105197 ENST00000544017 Transcript missense_variant 344/2572 211/1371 71/456 V/F Gtc/Ttc 1 NA 1 TIMM50 HGNC HGNC:23656 protein_coding YES CCDS33023.1 ENSP00000445806 Q3ZCQ8.150 A0A024R0M6.53 UPI0000161278 deleterious_low_confidence(0) probably_damaging(0.91) 1/11 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . CGT . 2950.6 NA NA NA NA NA NA NA NA NA 39480755 FCGBP 0 . GRCh38 chr19 39885703 39885703 + Silent SNP A A G rs759488240 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.8358T>C p.Cys2786= p.C2786= ENST00000616721 17/28 NA NA NA NA NA NA FCGBP,synonymous_variant,p.Cys2786=,ENST00000616721,NM_003890.2;FCGBP,downstream_gene_variant,,ENST00000620799,;FCGBP,downstream_gene_variant,,ENST00000595713,; G ENSG00000275395 ENST00000616721 Transcript synonymous_variant 8366/12787 8358/12615 2786/4204 C tgT/tgC rs759488240 1 NA -1 FCGBP HGNC HGNC:13572 protein_coding YES ENSP00000481056 A0A087WXI2.36 UPI0004620B9E NM_003890.2 17/28 Gene3D:2.10.25.10,Pfam:PF01826,PANTHER:PTHR11339,PANTHER:PTHR11339:SF244,Superfamily:SSF57567 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . CAC . 3725.6 3.587e-05 NA 2.892e-05 NA 0.0001635 NA 8.822e-06 NA 0.0001307 39885703 FCGBP 0 . GRCh38 chr19 39885781 39885781 + Silent SNP T T C rs1402396186 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.8280A>G p.Pro2760= p.P2760= ENST00000616721 17/28 NA NA NA NA NA NA FCGBP,synonymous_variant,p.Pro2760=,ENST00000616721,NM_003890.2;FCGBP,synonymous_variant,p.Pro1625=,ENST00000620799,;FCGBP,downstream_gene_variant,,ENST00000595713,; C ENSG00000275395 ENST00000616721 Transcript synonymous_variant 8288/12787 8280/12615 2760/4204 P ccA/ccG rs1402396186 1 NA -1 FCGBP HGNC HGNC:13572 protein_coding YES ENSP00000481056 A0A087WXI2.36 UPI0004620B9E NM_003890.2 17/28 Gene3D:2.10.25.10,Pfam:PF01826,PANTHER:PTHR11339,PANTHER:PTHR11339:SF244,Superfamily:SSF57567 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . CTG . 6497.6 NA NA NA NA NA NA NA NA NA 39885781 FCGBP 0 . GRCh38 chr19 39885782 39885782 + Missense_Mutation SNP G G T rs1459376516 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.8279C>A p.Pro2760Gln p.P2760Q ENST00000616721 17/28 NA NA NA NA NA NA FCGBP,missense_variant,p.Pro2760Gln,ENST00000616721,NM_003890.2;FCGBP,missense_variant,p.Pro1625Gln,ENST00000620799,;FCGBP,downstream_gene_variant,,ENST00000595713,; T ENSG00000275395 ENST00000616721 Transcript missense_variant 8287/12787 8279/12615 2760/4204 P/Q cCa/cAa rs1459376516 1 NA -1 FCGBP HGNC HGNC:13572 protein_coding YES ENSP00000481056 A0A087WXI2.36 UPI0004620B9E NM_003890.2 tolerated(0.06) benign(0.063) 17/28 Gene3D:2.10.25.10,Pfam:PF01826,PANTHER:PTHR11339,PANTHER:PTHR11339:SF244,Superfamily:SSF57567 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . TGG . 6494.6 NA NA NA NA NA NA NA NA NA 39885782 FCGBP 0 . GRCh38 chr19 39885790 39885790 + Silent SNP C C T rs1292472919 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.8271G>A p.Leu2757= p.L2757= ENST00000616721 17/28 NA NA NA NA NA NA FCGBP,synonymous_variant,p.Leu2757=,ENST00000616721,NM_003890.2;FCGBP,synonymous_variant,p.Leu1622=,ENST00000620799,;FCGBP,downstream_gene_variant,,ENST00000595713,; T ENSG00000275395 ENST00000616721 Transcript synonymous_variant 8279/12787 8271/12615 2757/4204 L ctG/ctA rs1292472919 1 NA -1 FCGBP HGNC HGNC:13572 protein_coding YES ENSP00000481056 A0A087WXI2.36 UPI0004620B9E NM_003890.2 17/28 Gene3D:2.10.25.10,Pfam:PF01826,PANTHER:PTHR11339,PANTHER:PTHR11339:SF244,Superfamily:SSF57567 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . GCA . 5919.6 NA NA NA NA NA NA NA NA NA 39885790 FCGBP 0 . GRCh38 chr19 39885791 39885791 + Missense_Mutation SNP A A G rs199842247 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.8270T>C p.Leu2757Pro p.L2757P ENST00000616721 17/28 NA NA NA NA NA NA FCGBP,missense_variant,p.Leu2757Pro,ENST00000616721,NM_003890.2;FCGBP,missense_variant,p.Leu1622Pro,ENST00000620799,;FCGBP,downstream_gene_variant,,ENST00000595713,; G ENSG00000275395 ENST00000616721 Transcript missense_variant 8278/12787 8270/12615 2757/4204 L/P cTg/cCg rs199842247 1 NA -1 FCGBP HGNC HGNC:13572 protein_coding YES ENSP00000481056 A0A087WXI2.36 UPI0004620B9E NM_003890.2 tolerated(0.37) benign(0.021) 17/28 Gene3D:2.10.25.10,Pfam:PF01826,PANTHER:PTHR11339,PANTHER:PTHR11339:SF244,Superfamily:SSF57567 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CAG . 5676.6 NA NA NA NA NA NA NA NA NA 39885791 FCGBP 0 . GRCh38 chr19 39885857 39885857 + Missense_Mutation SNP T T G rs200588294 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.8204A>C p.Gln2735Pro p.Q2735P ENST00000616721 17/28 NA NA NA NA NA NA FCGBP,missense_variant,p.Gln2735Pro,ENST00000616721,NM_003890.2;FCGBP,missense_variant,p.Gln1600Pro,ENST00000620799,;FCGBP,downstream_gene_variant,,ENST00000595713,; G ENSG00000275395 ENST00000616721 Transcript missense_variant 8212/12787 8204/12615 2735/4204 Q/P cAg/cCg rs200588294,COSV55433586 1 NA -1 FCGBP HGNC HGNC:13572 protein_coding YES ENSP00000481056 A0A087WXI2.36 UPI0004620B9E NM_003890.2 tolerated(0.31) benign(0) 17/28 Gene3D:2.10.25.10,Pfam:PF01826,PANTHER:PTHR11339,PANTHER:PTHR11339:SF244,Superfamily:SSF57567 2e-04 NA NA NA NA NA 0.001 NA NA 0,1 NA NA NA NA MODERATE 1 SNV 1 NA 0,1 NA NA . CTG . 343.6 4.554e-05 0.0002385 NA NA 6.824e-05 NA 2.048e-05 NA 0.0001422 39885857 FCGBP 0 . GRCh38 chr19 39885865 39885865 + Silent SNP T T C rs777522803 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.8196A>G p.Glu2732= p.E2732= ENST00000616721 17/28 NA NA NA NA NA NA FCGBP,synonymous_variant,p.Glu2732=,ENST00000616721,NM_003890.2;FCGBP,synonymous_variant,p.Glu1597=,ENST00000620799,;FCGBP,downstream_gene_variant,,ENST00000595713,; C ENSG00000275395 ENST00000616721 Transcript synonymous_variant 8204/12787 8196/12615 2732/4204 E gaA/gaG rs777522803 1 NA -1 FCGBP HGNC HGNC:13572 protein_coding YES ENSP00000481056 A0A087WXI2.36 UPI0004620B9E NM_003890.2 17/28 Gene3D:2.10.25.10,PANTHER:PTHR11339,PANTHER:PTHR11339:SF244,Superfamily:SSF57567 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . ATT . 250.6 3.586e-05 NA 0.000184 NA 6.834e-05 NA 1.002e-05 NA NA 39885865 FCGBP 0 . GRCh38 chr19 39886257 39886257 + Missense_Mutation SNP C C T rs2916065 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.7922G>A p.Gly2641Asp p.G2641D ENST00000616721 16/28 NA NA NA NA NA NA FCGBP,missense_variant,p.Gly2641Asp,ENST00000616721,NM_003890.2;FCGBP,missense_variant,p.Gly1506Asp,ENST00000620799,;FCGBP,downstream_gene_variant,,ENST00000595713,;,regulatory_region_variant,,ENSR00000589985,; T ENSG00000275395 ENST00000616721 Transcript missense_variant 7930/12787 7922/12615 2641/4204 G/D gGc/gAc rs2916065 1 NA -1 FCGBP HGNC HGNC:13572 protein_coding YES ENSP00000481056 A0A087WXI2.36 UPI0004620B9E NM_003890.2 tolerated(0.15) possibly_damaging(0.873) 16/28 PROSITE_profiles:PS51233,PANTHER:PTHR11339,PANTHER:PTHR11339:SF244 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . GCC . 9254.6 4.146e-06 6.504e-05 NA NA NA NA NA NA NA 39886257 FCGBP 0 . GRCh38 chr19 39886276 39886277 + In_Frame_Ins INS - - AGG rs1378703310 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.7902_7903insCCT p.Thr2634_Cys2635insPro p.T2634_C2635insP ENST00000616721 16/28 NA NA NA NA NA NA FCGBP,inframe_insertion,p.Thr2634_Cys2635insPro,ENST00000616721,NM_003890.2;FCGBP,inframe_insertion,p.Thr1499_Cys1500insPro,ENST00000620799,;FCGBP,non_coding_transcript_exon_variant,,ENST00000595713,;,regulatory_region_variant,,ENSR00000589985,; AGG ENSG00000275395 ENST00000616721 Transcript inframe_insertion 7910-7911/12787 7902-7903/12615 2634-2635/4204 -/P -/CCT rs1378703310 1 NA -1 FCGBP HGNC HGNC:13572 protein_coding YES ENSP00000481056 A0A087WXI2.36 UPI0004620B9E NM_003890.2 16/28 PROSITE_profiles:PS51233,PANTHER:PTHR11339,PANTHER:PTHR11339:SF244,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 insertion 1 NA NA NA . CAG . 8570.64 NA NA NA NA NA NA NA NA NA 39886276 FCGBP 0 . GRCh38 chr19 39886281 39886283 + In_Frame_Del DEL GGC GGC - rs1346321490 NA HCI-EC-23 NORMAL GGC GGC NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.7896_7898del p.Pro2633del p.P2633del ENST00000616721 16/28 NA NA NA NA NA NA FCGBP,inframe_deletion,p.Pro2633del,ENST00000616721,NM_003890.2;FCGBP,inframe_deletion,p.Pro1498del,ENST00000620799,;FCGBP,non_coding_transcript_exon_variant,,ENST00000595713,;,regulatory_region_variant,,ENSR00000589985,; - ENSG00000275395 ENST00000616721 Transcript inframe_deletion 7904-7906/12787 7896-7898/12615 2632-2633/4204 PP/P ccGCCc/ccc rs1346321490 1 NA -1 FCGBP HGNC HGNC:13572 protein_coding YES ENSP00000481056 A0A087WXI2.36 UPI0004620B9E NM_003890.2 16/28 PROSITE_profiles:PS51233,PANTHER:PTHR11339,PANTHER:PTHR11339:SF244,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 deletion 1 NA NA NA . TGGGCG . 7838.6 4.125e-06 NA 2.941e-05 NA NA NA NA NA NA 39886280 FCGBP 0 . GRCh38 chr19 39886355 39886355 + Silent SNP C C T rs2916064 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.7824G>A p.Ser2608= p.S2608= ENST00000616721 16/28 NA NA NA NA NA NA FCGBP,synonymous_variant,p.Ser2608=,ENST00000616721,NM_003890.2;FCGBP,synonymous_variant,p.Ser1473=,ENST00000620799,;FCGBP,non_coding_transcript_exon_variant,,ENST00000595713,;,regulatory_region_variant,,ENSR00000589985,; T ENSG00000275395 ENST00000616721 Transcript synonymous_variant 7832/12787 7824/12615 2608/4204 S tcG/tcA rs2916064,COSV55426395 1 NA -1 FCGBP HGNC HGNC:13572 protein_coding YES ENSP00000481056 A0A087WXI2.36 UPI0004620B9E NM_003890.2 16/28 PROSITE_profiles:PS51233,PANTHER:PTHR11339,PANTHER:PTHR11339:SF244 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA LOW 1 SNV 1 NA 0,1 NA NA . GCG . 4970.6 6.793e-05 0.0003081 0.0001111 0.0002475 NA NA 2.54e-05 NA 8.678e-05 39886355 FCGBP 0 . GRCh38 chr19 39889605 39889605 + Silent SNP C C T rs2542329 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.7467G>A p.Leu2489= p.L2489= ENST00000616721 15/28 NA NA NA NA NA NA FCGBP,synonymous_variant,p.Leu2489=,ENST00000616721,NM_003890.2;FCGBP,synonymous_variant,p.Leu1354=,ENST00000620799,;FCGBP,upstream_gene_variant,,ENST00000595713,; T ENSG00000275395 ENST00000616721 Transcript synonymous_variant 7475/12787 7467/12615 2489/4204 L ctG/ctA rs2542329,COSV55443739 1 NA -1 FCGBP HGNC HGNC:13572 protein_coding YES ENSP00000481056 A0A087WXI2.36 UPI0004620B9E NM_003890.2 15/28 Pfam:PF00094,PROSITE_profiles:PS51233,PANTHER:PTHR11339,PANTHER:PTHR11339:SF244,SMART:SM00216 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA LOW 1 SNV 1 NA 0,1 NA NA . GCA . 507.6 1.459e-05 NA 8.49e-05 NA NA NA NA NA NA 39889605 FCGBP 0 . GRCh38 chr19 39893995 39893995 + Silent SNP A A C rs11669855 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.5766T>G p.Ala1922= p.A1922= ENST00000616721 12/28 NA NA NA NA NA NA FCGBP,synonymous_variant,p.Ala1922=,ENST00000616721,NM_003890.2;FCGBP,synonymous_variant,p.Ala787=,ENST00000620799,; C ENSG00000275395 ENST00000616721 Transcript synonymous_variant 5774/12787 5766/12615 1922/4204 A gcT/gcG rs11669855 1 NA -1 FCGBP HGNC HGNC:13572 protein_coding YES ENSP00000481056 A0A087WXI2.36 UPI0004620B9E NM_003890.2 12/28 Pfam:PF08742,PANTHER:PTHR11339,PANTHER:PTHR11339:SF244,SMART:SM00832 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . GAG . 1701.6 NA NA NA NA NA NA NA NA NA 39893995 FCGBP 0 . GRCh38 chr19 39894316 39894316 + Silent SNP G G A rs61744491 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.5445C>T p.Cys1815= p.C1815= ENST00000616721 12/28 NA NA NA NA NA NA FCGBP,synonymous_variant,p.Cys1815=,ENST00000616721,NM_003890.2;FCGBP,synonymous_variant,p.Cys680=,ENST00000620799,; A ENSG00000275395 ENST00000616721 Transcript synonymous_variant 5453/12787 5445/12615 1815/4204 C tgC/tgT rs61744491 1 NA -1 FCGBP HGNC HGNC:13572 protein_coding YES ENSP00000481056 A0A087WXI2.36 UPI0004620B9E NM_003890.2 12/28 Pfam:PF00094,PROSITE_profiles:PS51233,PANTHER:PTHR11339,PANTHER:PTHR11339:SF244,SMART:SM00216 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . CGC . 3068.6 NA NA NA NA NA NA NA NA NA 39894316 FCGBP 0 . GRCh38 chr19 39899656 39899656 + Silent SNP G G A rs1435247730 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4827C>T p.Cys1609= p.C1609= ENST00000616721 10/28 NA NA NA NA NA NA FCGBP,synonymous_variant,p.Cys1609=,ENST00000616721,NM_003890.2;FCGBP,synonymous_variant,p.Cys474=,ENST00000620799,;,regulatory_region_variant,,ENSR00001024509,; A ENSG00000275395 ENST00000616721 Transcript synonymous_variant 4835/12787 4827/12615 1609/4204 C tgC/tgT rs1435247730,COSV55426508 1 NA -1 FCGBP HGNC HGNC:13572 protein_coding YES ENSP00000481056 A0A087WXI2.36 UPI0004620B9E NM_003890.2 10/28 Gene3D:2.10.25.10,Pfam:PF12714,PANTHER:PTHR11339,PANTHER:PTHR11339:SF244,SMART:SM00214,SMART:SM00215 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA LOW 1 SNV 1 NA 0,1 NA NA . TGC . 11589.6 NA NA NA NA NA NA NA NA NA 39899656 FCGBP 0 . GRCh38 chr19 39902033 39902033 + Silent SNP T T C rs782440195 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4677A>G p.Pro1559= p.P1559= ENST00000616721 9/28 NA NA NA NA NA NA FCGBP,synonymous_variant,p.Pro1559=,ENST00000616721,NM_003890.2;FCGBP,synonymous_variant,p.Pro424=,ENST00000620799,; C ENSG00000275395 ENST00000616721 Transcript synonymous_variant 4685/12787 4677/12615 1559/4204 P ccA/ccG rs782440195 1 NA -1 FCGBP HGNC HGNC:13572 protein_coding YES ENSP00000481056 A0A087WXI2.36 UPI0004620B9E NM_003890.2 9/28 Gene3D:2.10.25.10,Pfam:PF01826,PANTHER:PTHR11339,PANTHER:PTHR11339:SF244,Superfamily:SSF57567 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . CTG . 2998.6 1.253e-05 NA NA NA NA NA 2.797e-05 NA NA 39902033 FCGBP 0 . GRCh38 chr19 39902034 39902034 + Missense_Mutation SNP G G T rs782572236 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4676C>A p.Pro1559Gln p.P1559Q ENST00000616721 9/28 NA NA NA NA NA NA FCGBP,missense_variant,p.Pro1559Gln,ENST00000616721,NM_003890.2;FCGBP,missense_variant,p.Pro424Gln,ENST00000620799,; T ENSG00000275395 ENST00000616721 Transcript missense_variant 4684/12787 4676/12615 1559/4204 P/Q cCa/cAa rs782572236 1 NA -1 FCGBP HGNC HGNC:13572 protein_coding YES ENSP00000481056 A0A087WXI2.36 UPI0004620B9E NM_003890.2 tolerated(0.09) benign(0.169) 9/28 Gene3D:2.10.25.10,Pfam:PF01826,PANTHER:PTHR11339,PANTHER:PTHR11339:SF244,Superfamily:SSF57567 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . TGG . 2995.6 1.259e-05 NA NA NA NA NA 2.816e-05 NA NA 39902034 FCGBP 0 . GRCh38 chr19 39902042 39902042 + Silent SNP C C T rs1483404420 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4668G>A p.Leu1556= p.L1556= ENST00000616721 9/28 NA NA NA NA NA NA FCGBP,synonymous_variant,p.Leu1556=,ENST00000616721,NM_003890.2;FCGBP,synonymous_variant,p.Leu421=,ENST00000620799,; T ENSG00000275395 ENST00000616721 Transcript synonymous_variant 4676/12787 4668/12615 1556/4204 L ctG/ctA rs1483404420 1 NA -1 FCGBP HGNC HGNC:13572 protein_coding YES ENSP00000481056 A0A087WXI2.36 UPI0004620B9E NM_003890.2 9/28 Gene3D:2.10.25.10,Pfam:PF01826,PANTHER:PTHR11339,PANTHER:PTHR11339:SF244,Superfamily:SSF57567 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . GCA . 3538.6 NA NA NA NA NA NA NA NA NA 39902042 FCGBP 0 . GRCh38 chr19 39902043 39902043 + Missense_Mutation SNP A A G rs201445853 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4667T>C p.Leu1556Pro p.L1556P ENST00000616721 9/28 NA NA NA NA NA NA FCGBP,missense_variant,p.Leu1556Pro,ENST00000616721,NM_003890.2;FCGBP,missense_variant,p.Leu421Pro,ENST00000620799,; G ENSG00000275395 ENST00000616721 Transcript missense_variant 4675/12787 4667/12615 1556/4204 L/P cTg/cCg rs201445853 1 NA -1 FCGBP HGNC HGNC:13572 protein_coding YES ENSP00000481056 A0A087WXI2.36 UPI0004620B9E NM_003890.2 tolerated(0.46) benign(0.001) 9/28 Gene3D:2.10.25.10,Pfam:PF01826,PANTHER:PTHR11339,PANTHER:PTHR11339:SF244,Superfamily:SSF57567 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CAG . 3474.6 2.124e-05 NA NA NA NA NA 9.538e-06 NA 0.0001345 39902043 FCGBP 0 . GRCh38 chr19 39902060 39902060 + Silent SNP C C T rs782430357 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4650G>A p.Ser1550= p.S1550= ENST00000616721 9/28 NA NA NA NA NA NA FCGBP,synonymous_variant,p.Ser1550=,ENST00000616721,NM_003890.2;FCGBP,synonymous_variant,p.Ser415=,ENST00000620799,; T ENSG00000275395 ENST00000616721 Transcript synonymous_variant 4658/12787 4650/12615 1550/4204 S tcG/tcA rs782430357,COSV55438833 1 NA -1 FCGBP HGNC HGNC:13572 protein_coding YES ENSP00000481056 A0A087WXI2.36 UPI0004620B9E NM_003890.2 9/28 Gene3D:2.10.25.10,Pfam:PF01826,PANTHER:PTHR11339,PANTHER:PTHR11339:SF244,Superfamily:SSF57567 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA LOW 1 SNV 1 NA 0,1 NA NA . CCG . 4417.6 2.691e-05 7.77e-05 6.284e-05 NA NA NA NA NA 0.0001031 39902060 FCGBP 0 . GRCh38 chr19 39902109 39902109 + Missense_Mutation SNP T T G rs202122337 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4601A>C p.Gln1534Pro p.Q1534P ENST00000616721 9/28 NA NA NA NA NA NA FCGBP,missense_variant,p.Gln1534Pro,ENST00000616721,NM_003890.2;FCGBP,missense_variant,p.Gln399Pro,ENST00000620799,; G ENSG00000275395 ENST00000616721 Transcript missense_variant 4609/12787 4601/12615 1534/4204 Q/P cAg/cCg rs202122337,COSV55428663 1 NA -1 FCGBP HGNC HGNC:13572 protein_coding YES ENSP00000481056 A0A087WXI2.36 UPI0004620B9E NM_003890.2 tolerated(0.59) benign(0) 9/28 Gene3D:2.10.25.10,Pfam:PF01826,PANTHER:PTHR11339,PANTHER:PTHR11339:SF244,Superfamily:SSF57567 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 1 NA 0,1 NA NA . CTG . 9615.6 0.0001087 7.754e-05 3.213e-05 NA NA NA 0.0001556 0.0003667 0.000172 39902109 FCGBP 0 . GRCh38 chr19 39902117 39902117 + Silent SNP T T C rs782716414 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4593A>G p.Glu1531= p.E1531= ENST00000616721 9/28 NA NA NA NA NA NA FCGBP,synonymous_variant,p.Glu1531=,ENST00000616721,NM_003890.2;FCGBP,synonymous_variant,p.Glu396=,ENST00000620799,; C ENSG00000275395 ENST00000616721 Transcript synonymous_variant 4601/12787 4593/12615 1531/4204 E gaA/gaG rs782716414,COSV55438844 1 NA -1 FCGBP HGNC HGNC:13572 protein_coding YES ENSP00000481056 A0A087WXI2.36 UPI0004620B9E NM_003890.2 9/28 Gene3D:2.10.25.10,PANTHER:PTHR11339,PANTHER:PTHR11339:SF244,Superfamily:SSF57567 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA LOW 1 SNV 1 NA 0,1 NA NA . ATT . 9950.6 3.041e-05 NA 3.106e-05 NA NA NA 2.954e-05 NA 0.000101 39902117 FCGBP 0 . GRCh38 chr19 39902274 39902274 + Missense_Mutation SNP G G C rs139175656 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4554C>G p.His1518Gln p.H1518Q ENST00000616721 8/28 NA NA NA NA NA NA FCGBP,missense_variant,p.His1518Gln,ENST00000616721,NM_003890.2;FCGBP,missense_variant,p.His383Gln,ENST00000620799,; C ENSG00000275395 ENST00000616721 Transcript missense_variant 4562/12787 4554/12615 1518/4204 H/Q caC/caG rs139175656 1 NA -1 FCGBP HGNC HGNC:13572 protein_coding YES ENSP00000481056 A0A087WXI2.36 UPI0004620B9E NM_003890.2 tolerated(0.43) benign(0.059) 8/28 Pfam:PF08742,PANTHER:PTHR11339,PANTHER:PTHR11339:SF244,SMART:SM00832 NA 0.7292 0.5836 NA 0.7897 0.6312 0.7106 NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CGT . 729.6 NA NA NA NA NA NA NA NA NA 39902274 FCGBP 0 . GRCh38 chr19 39902287 39902287 + Missense_Mutation SNP A A G rs200977347 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4541T>C p.Val1514Ala p.V1514A ENST00000616721 8/28 NA NA NA NA NA NA FCGBP,missense_variant,p.Val1514Ala,ENST00000616721,NM_003890.2;FCGBP,missense_variant,p.Val379Ala,ENST00000620799,; G ENSG00000275395 ENST00000616721 Transcript missense_variant 4549/12787 4541/12615 1514/4204 V/A gTg/gCg rs200977347 1 NA -1 FCGBP HGNC HGNC:13572 protein_coding YES ENSP00000481056 A0A087WXI2.36 UPI0004620B9E NM_003890.2 tolerated(1) benign(0) 8/28 Pfam:PF08742,PANTHER:PTHR11339,PANTHER:PTHR11339:SF244,SMART:SM00832 NA 0.8381 0.6124 NA 0.8065 0.67 0.7566 NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CAC . 1339.6 NA NA NA NA NA NA NA NA NA 39902287 FCGBP 0 . GRCh38 chr19 39905924 39905924 + Missense_Mutation SNP T T C rs1250914489 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3797A>G p.His1266Arg p.H1266R ENST00000616721 7/28 NA NA NA NA NA NA FCGBP,missense_variant,p.His1266Arg,ENST00000616721,NM_003890.2;FCGBP,missense_variant,p.His131Arg,ENST00000620799,; C ENSG00000275395 ENST00000616721 Transcript missense_variant 3805/12787 3797/12615 1266/4204 H/R cAc/cGc rs1250914489 1 NA -1 FCGBP HGNC HGNC:13572 protein_coding YES ENSP00000481056 A0A087WXI2.36 UPI0004620B9E NM_003890.2 tolerated(1) benign(0) 7/28 Pfam:PF00094,PROSITE_profiles:PS51233,PANTHER:PTHR11339,PANTHER:PTHR11339:SF244,SMART:SM00215,SMART:SM00216 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . GTG . 107.8 NA NA NA NA NA NA NA NA NA 39905924 FCGBP 0 . GRCh38 chr19 39905950 39905950 + Silent SNP A A G rs781855049 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3771T>C p.Asp1257= p.D1257= ENST00000616721 7/28 NA NA NA NA NA NA FCGBP,synonymous_variant,p.Asp1257=,ENST00000616721,NM_003890.2;FCGBP,synonymous_variant,p.Asp122=,ENST00000620799,; G ENSG00000275395 ENST00000616721 Transcript synonymous_variant 3779/12787 3771/12615 1257/4204 D gaT/gaC rs781855049 1 NA -1 FCGBP HGNC HGNC:13572 protein_coding YES ENSP00000481056 A0A087WXI2.36 UPI0004620B9E NM_003890.2 7/28 Pfam:PF00094,PROSITE_profiles:PS51233,PANTHER:PTHR11339,PANTHER:PTHR11339:SF244,SMART:SM00215,SMART:SM00216 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . GAT . 300.98 9.017e-06 NA NA NA NA NA 2.007e-05 NA NA 39905950 FCGBP 0 . GRCh38 chr19 39905956 39905956 + Silent SNP C C T rs587716286 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3765G>A p.Ser1255= p.S1255= ENST00000616721 7/28 NA NA NA NA NA NA FCGBP,synonymous_variant,p.Ser1255=,ENST00000616721,NM_003890.2;FCGBP,synonymous_variant,p.Ser120=,ENST00000620799,; T ENSG00000275395 ENST00000616721 Transcript synonymous_variant 3773/12787 3765/12615 1255/4204 S tcG/tcA rs587716286,COSV55433828 1 NA -1 FCGBP HGNC HGNC:13572 protein_coding YES ENSP00000481056 A0A087WXI2.36 UPI0004620B9E NM_003890.2 7/28 Pfam:PF00094,PROSITE_profiles:PS51233,PANTHER:PTHR11339,PANTHER:PTHR11339:SF244,SMART:SM00215,SMART:SM00216 2e-04 8e-04 NA NA NA NA NA NA NA 0,1 NA NA NA NA LOW 1 SNV 1 NA 0,1 NA NA . CCG . 391.01 2.711e-05 6.259e-05 0.0001074 NA NA NA 2.013e-05 NA NA 39905956 FCGBP 0 . GRCh38 chr19 39906014 39906014 + Missense_Mutation SNP C C T rs782342257 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3707G>A p.Arg1236Gln p.R1236Q ENST00000616721 7/28 NA NA NA NA NA NA FCGBP,missense_variant,p.Arg1236Gln,ENST00000616721,NM_003890.2;FCGBP,missense_variant,p.Arg101Gln,ENST00000620799,; T ENSG00000275395 ENST00000616721 Transcript missense_variant 3715/12787 3707/12615 1236/4204 R/Q cGg/cAg rs782342257 1 NA -1 FCGBP HGNC HGNC:13572 protein_coding YES ENSP00000481056 A0A087WXI2.36 UPI0004620B9E NM_003890.2 tolerated(1) benign(0.005) 7/28 Pfam:PF12714,PANTHER:PTHR11339,PANTHER:PTHR11339:SF244,SMART:SM00214,SMART:SM00215 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CCG . 976.03 2.547e-05 NA NA NA 7.736e-05 NA 1.571e-05 NA 8.473e-05 39906014 FCGBP 0 . GRCh38 chr19 39906025 39906025 + Silent SNP A A G rs782066507 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3696T>C p.His1232= p.H1232= ENST00000616721 7/28 NA NA NA NA NA NA FCGBP,synonymous_variant,p.His1232=,ENST00000616721,NM_003890.2;FCGBP,synonymous_variant,p.His97=,ENST00000620799,; G ENSG00000275395 ENST00000616721 Transcript synonymous_variant 3704/12787 3696/12615 1232/4204 H caT/caC rs782066507 1 NA -1 FCGBP HGNC HGNC:13572 protein_coding YES ENSP00000481056 A0A087WXI2.36 UPI0004620B9E NM_003890.2 7/28 Pfam:PF12714,PANTHER:PTHR11339,PANTHER:PTHR11339:SF244,SMART:SM00214,SMART:SM00215 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . CAT . 1156.03 6.611e-06 NA NA NA NA NA NA NA 4.302e-05 39906025 FCGBP 0 . GRCh38 chr19 39906031 39906031 + Silent SNP G G T rs1219543780 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3690C>A p.Gly1230= p.G1230= ENST00000616721 7/28 NA NA NA NA NA NA FCGBP,synonymous_variant,p.Gly1230=,ENST00000616721,NM_003890.2;FCGBP,synonymous_variant,p.Gly95=,ENST00000620799,; T ENSG00000275395 ENST00000616721 Transcript synonymous_variant 3698/12787 3690/12615 1230/4204 G ggC/ggA rs1219543780 1 NA -1 FCGBP HGNC HGNC:13572 protein_coding YES ENSP00000481056 A0A087WXI2.36 UPI0004620B9E NM_003890.2 7/28 Gene3D:2.10.25.10,Pfam:PF12714,PANTHER:PTHR11339,PANTHER:PTHR11339:SF244,SMART:SM00214,SMART:SM00215 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . GGC . 1381.03 NA NA NA NA NA NA NA NA NA 39906031 FCGBP 0 . GRCh38 chr19 39906045 39906045 + Missense_Mutation SNP G G A rs1291598268 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3676C>T p.Pro1226Ser p.P1226S ENST00000616721 7/28 NA NA NA NA NA NA FCGBP,missense_variant,p.Pro1226Ser,ENST00000616721,NM_003890.2;FCGBP,missense_variant,p.Pro91Ser,ENST00000620799,; A ENSG00000275395 ENST00000616721 Transcript missense_variant 3684/12787 3676/12615 1226/4204 P/S Ccc/Tcc rs1291598268,COSV99661703 1 NA -1 FCGBP HGNC HGNC:13572 protein_coding YES ENSP00000481056 A0A087WXI2.36 UPI0004620B9E NM_003890.2 tolerated(0.19) benign(0.307) 7/28 Gene3D:2.10.25.10,Pfam:PF12714,PANTHER:PTHR11339,PANTHER:PTHR11339:SF244,SMART:SM00214,SMART:SM00215 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 1 NA 0,1 NA NA . GGC . 1471.03 NA NA NA NA NA NA NA NA NA 39906045 FCGBP 0 . GRCh38 chr19 39906058 39906059 + Frame_Shift_Del DEL CT CT - rs1326680184 NA HCI-EC-23 NORMAL CT CT NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3662_3663del p.Glu1221GlyfsTer4 p.E1221Gfs*4 ENST00000616721 7/28 NA NA NA NA NA NA FCGBP,frameshift_variant,p.Glu1221GlyfsTer4,ENST00000616721,NM_003890.2;FCGBP,frameshift_variant,p.Glu86GlyfsTer4,ENST00000620799,; - ENSG00000275395 ENST00000616721 Transcript frameshift_variant 3670-3671/12787 3662-3663/12615 1221/4204 E/X gAG/g rs1326680184 1 NA -1 FCGBP HGNC HGNC:13572 protein_coding YES ENSP00000481056 A0A087WXI2.36 UPI0004620B9E NM_003890.2 7/28 Gene3D:2.10.25.10,Pfam:PF12714,PANTHER:PTHR11339,PANTHER:PTHR11339:SF244,SMART:SM00214,SMART:SM00215 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 NA NA NA . ACCTC . 1561.03 NA NA NA NA NA NA NA NA NA 39906057 FCGBP 0 . GRCh38 chr19 39906061 39906062 + Frame_Shift_Ins INS - - GG rs1330583248 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3659_3660insCC p.Glu1221LeufsTer88 p.E1221Lfs*88 ENST00000616721 7/28 NA NA NA NA NA NA FCGBP,frameshift_variant,p.Glu1221LeufsTer88,ENST00000616721,NM_003890.2;FCGBP,frameshift_variant,p.Glu86LeufsTer88,ENST00000620799,; GG ENSG00000275395 ENST00000616721 Transcript frameshift_variant 3667-3668/12787 3659-3660/12615 1220/4204 G/GX ggt/ggCCt rs1330583248 1 NA -1 FCGBP HGNC HGNC:13572 protein_coding YES ENSP00000481056 A0A087WXI2.36 UPI0004620B9E NM_003890.2 7/28 Gene3D:2.10.25.10,Pfam:PF12714,PANTHER:PTHR11339,PANTHER:PTHR11339:SF244,SMART:SM00214,SMART:SM00215 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 insertion 1 NA NA NA . CAC . 1651.06 NA NA NA NA NA NA NA NA NA 39906061 FCGBP 0 . GRCh38 chr19 39906071 39906071 + Missense_Mutation SNP C C T rs782538403 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3650G>A p.Arg1217Gln p.R1217Q ENST00000616721 7/28 NA NA NA NA NA NA FCGBP,missense_variant,p.Arg1217Gln,ENST00000616721,NM_003890.2;FCGBP,missense_variant,p.Arg82Gln,ENST00000620799,; T ENSG00000275395 ENST00000616721 Transcript missense_variant 3658/12787 3650/12615 1217/4204 R/Q cGg/cAg rs782538403 1 NA -1 FCGBP HGNC HGNC:13572 protein_coding YES ENSP00000481056 A0A087WXI2.36 UPI0004620B9E NM_003890.2 tolerated(1) benign(0.001) 7/28 Gene3D:2.10.25.10,Pfam:PF12714,PANTHER:PTHR11339,PANTHER:PTHR11339:SF244,SMART:SM00214,SMART:SM00215 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CCG . 1876.03 6.238e-05 NA NA NA 9.425e-05 NA 0.0001043 NA 9.33e-05 39906071 FCGBP 0 . GRCh38 chr19 39906094 39906094 + Silent SNP C C T rs1415225680 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3627G>A p.Gly1209= p.G1209= ENST00000616721 7/28 NA NA NA NA NA NA FCGBP,synonymous_variant,p.Gly1209=,ENST00000616721,NM_003890.2;FCGBP,synonymous_variant,p.Gly74=,ENST00000620799,; T ENSG00000275395 ENST00000616721 Transcript synonymous_variant 3635/12787 3627/12615 1209/4204 G ggG/ggA rs1415225680 1 NA -1 FCGBP HGNC HGNC:13572 protein_coding YES ENSP00000481056 A0A087WXI2.36 UPI0004620B9E NM_003890.2 7/28 Gene3D:2.10.25.10,Pfam:PF12714,PANTHER:PTHR11339,PANTHER:PTHR11339:SF244,SMART:SM00214,SMART:SM00215 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . ACC . 2101.03 NA NA NA NA NA NA NA NA NA 39906094 FCGBP 0 . GRCh38 chr19 39906097 39906097 + Silent SNP A A G rs1473020021 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3624T>C p.Pro1208= p.P1208= ENST00000616721 7/28 NA NA NA NA NA NA FCGBP,synonymous_variant,p.Pro1208=,ENST00000616721,NM_003890.2;FCGBP,synonymous_variant,p.Pro73=,ENST00000620799,; G ENSG00000275395 ENST00000616721 Transcript synonymous_variant 3632/12787 3624/12615 1208/4204 P ccT/ccC rs1473020021 1 NA -1 FCGBP HGNC HGNC:13572 protein_coding YES ENSP00000481056 A0A087WXI2.36 UPI0004620B9E NM_003890.2 7/28 Gene3D:2.10.25.10,Pfam:PF12714,PANTHER:PTHR11339,PANTHER:PTHR11339:SF244,SMART:SM00214,SMART:SM00215 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . CAG . 2191.03 NA NA NA NA NA NA NA NA NA 39906097 FCGBP 0 . GRCh38 chr19 39906121 39906121 + Silent SNP C C T rs782599701 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3600G>A p.Leu1200= p.L1200= ENST00000616721 7/28 NA NA NA NA NA NA FCGBP,synonymous_variant,p.Leu1200=,ENST00000616721,NM_003890.2;FCGBP,synonymous_variant,p.Leu65=,ENST00000620799,; T ENSG00000275395 ENST00000616721 Transcript synonymous_variant 3608/12787 3600/12615 1200/4204 L ctG/ctA rs782599701 1 NA -1 FCGBP HGNC HGNC:13572 protein_coding YES ENSP00000481056 A0A087WXI2.36 UPI0004620B9E NM_003890.2 7/28 Gene3D:2.10.25.10,Pfam:PF12714,PANTHER:PTHR11339,PANTHER:PTHR11339:SF244,SMART:SM00214,SMART:SM00215 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . CCA . 2281.03 2.526e-05 NA NA NA NA NA NA NA 0.0001471 39906121 FCGBP 0 . GRCh38 chr19 39906122 39906122 + Missense_Mutation SNP A A G rs1249992359 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3599T>C p.Leu1200Pro p.L1200P ENST00000616721 7/28 NA NA NA NA NA NA FCGBP,missense_variant,p.Leu1200Pro,ENST00000616721,NM_003890.2;FCGBP,missense_variant,p.Leu65Pro,ENST00000620799,; G ENSG00000275395 ENST00000616721 Transcript missense_variant 3607/12787 3599/12615 1200/4204 L/P cTg/cCg rs1249992359 1 NA -1 FCGBP HGNC HGNC:13572 protein_coding YES ENSP00000481056 A0A087WXI2.36 UPI0004620B9E NM_003890.2 tolerated(1) benign(0.005) 7/28 Gene3D:2.10.25.10,Pfam:PF12714,PANTHER:PTHR11339,PANTHER:PTHR11339:SF244,SMART:SM00214,SMART:SM00215 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CAG . 2281.03 NA NA NA NA NA NA NA NA NA 39906122 FCGBP 0 . GRCh38 chr19 39906129 39906129 + Missense_Mutation SNP A A G rs1199355334 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3592T>C p.Tyr1198His p.Y1198H ENST00000616721 7/28 NA NA NA NA NA NA FCGBP,missense_variant,p.Tyr1198His,ENST00000616721,NM_003890.2;FCGBP,missense_variant,p.Tyr63His,ENST00000620799,; G ENSG00000275395 ENST00000616721 Transcript missense_variant 3600/12787 3592/12615 1198/4204 Y/H Tac/Cac rs1199355334 1 NA -1 FCGBP HGNC HGNC:13572 protein_coding YES ENSP00000481056 A0A087WXI2.36 UPI0004620B9E NM_003890.2 tolerated(0.55) benign(0.035) 7/28 Gene3D:2.10.25.10,Pfam:PF12714,PANTHER:PTHR11339,PANTHER:PTHR11339:SF244,SMART:SM00214,SMART:SM00215 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . TAG . 2281.03 NA NA NA NA NA NA NA NA NA 39906129 FCGBP 0 . GRCh38 chr19 39906133 39906134 + Frame_Shift_Del DEL GC GC - rs1435035962 NA HCI-EC-23 NORMAL GC GC NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3587_3588del p.Arg1196LeufsTer15 p.R1196Lfs*15 ENST00000616721 7/28 NA NA NA NA NA NA FCGBP,frameshift_variant,p.Arg1196LeufsTer15,ENST00000616721,NM_003890.2;FCGBP,frameshift_variant,p.Arg61LeufsTer15,ENST00000620799,; - ENSG00000275395 ENST00000616721 Transcript frameshift_variant 3595-3596/12787 3587-3588/12615 1196/4204 R/X cGC/c rs1435035962 1 NA -1 FCGBP HGNC HGNC:13572 protein_coding YES ENSP00000481056 A0A087WXI2.36 UPI0004620B9E NM_003890.2 7/28 Gene3D:2.10.25.10,Pfam:PF12714,PANTHER:PTHR11339,PANTHER:PTHR11339:SF244,SMART:SM00214,SMART:SM00215 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 NA NA NA . TAGCG . 2371.03 NA NA NA NA NA NA NA NA NA 39906132 FCGBP 0 . GRCh38 chr19 39906137 39906138 + Frame_Shift_Ins INS - - GC rs1281750544 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3583_3584insGC p.Asp1195GlyfsTer114 p.D1195Gfs*114 ENST00000616721 7/28 NA NA NA NA NA NA FCGBP,frameshift_variant,p.Asp1195GlyfsTer114,ENST00000616721,NM_003890.2;FCGBP,frameshift_variant,p.Asp60GlyfsTer114,ENST00000620799,; GC ENSG00000275395 ENST00000616721 Transcript frameshift_variant 3591-3592/12787 3583-3584/12615 1195/4204 D/GX gac/gGCac rs1281750544 1 NA -1 FCGBP HGNC HGNC:13572 protein_coding YES ENSP00000481056 A0A087WXI2.36 UPI0004620B9E NM_003890.2 7/28 Gene3D:2.10.25.10,Pfam:PF12714,PANTHER:PTHR11339,PANTHER:PTHR11339:SF244,SMART:SM00214,SMART:SM00215 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 insertion 1 NA NA NA . GTC . 2326.06 NA NA NA NA NA NA NA NA NA 39906137 FCGBP 0 . GRCh38 chr19 39906139 39906139 + Missense_Mutation SNP A A C novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3582T>G p.Asp1194Glu p.D1194E ENST00000616721 7/28 NA NA NA NA NA NA FCGBP,missense_variant,p.Asp1194Glu,ENST00000616721,NM_003890.2;FCGBP,missense_variant,p.Asp59Glu,ENST00000620799,; C ENSG00000275395 ENST00000616721 Transcript missense_variant 3590/12787 3582/12615 1194/4204 D/E gaT/gaG 1 NA -1 FCGBP HGNC HGNC:13572 protein_coding YES ENSP00000481056 A0A087WXI2.36 UPI0004620B9E NM_003890.2 tolerated(0.29) benign(0.012) 7/28 Gene3D:2.10.25.10,Pfam:PF12714,PANTHER:PTHR11339,PANTHER:PTHR11339:SF244,SMART:SM00214,SMART:SM00215 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CAT . 2326.03 NA NA NA NA NA NA NA NA NA 39906139 FCGBP 0 . GRCh38 chr19 39906141 39906141 + Missense_Mutation SNP C C G novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3580G>C p.Asp1194His p.D1194H ENST00000616721 7/28 NA NA NA NA NA NA FCGBP,missense_variant,p.Asp1194His,ENST00000616721,NM_003890.2;FCGBP,missense_variant,p.Asp59His,ENST00000620799,; G ENSG00000275395 ENST00000616721 Transcript missense_variant 3588/12787 3580/12615 1194/4204 D/H Gat/Cat 1 NA -1 FCGBP HGNC HGNC:13572 protein_coding YES ENSP00000481056 A0A087WXI2.36 UPI0004620B9E NM_003890.2 deleterious(0.01) possibly_damaging(0.815) 7/28 Gene3D:2.10.25.10,Pfam:PF12714,PANTHER:PTHR11339,PANTHER:PTHR11339:SF244,SMART:SM00214,SMART:SM00215 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . TCG . 2191.03 NA NA NA NA NA NA NA NA NA 39906141 FCGBP 0 . GRCh38 chr19 39906145 39906145 + Silent SNP G G T novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3576C>A p.Leu1192= p.L1192= ENST00000616721 7/28 NA NA NA NA NA NA FCGBP,synonymous_variant,p.Leu1192=,ENST00000616721,NM_003890.2;FCGBP,synonymous_variant,p.Leu57=,ENST00000620799,; T ENSG00000275395 ENST00000616721 Transcript synonymous_variant 3584/12787 3576/12615 1192/4204 L ctC/ctA 1 NA -1 FCGBP HGNC HGNC:13572 protein_coding YES ENSP00000481056 A0A087WXI2.36 UPI0004620B9E NM_003890.2 7/28 Gene3D:2.10.25.10,Pfam:PF12714,PANTHER:PTHR11339,PANTHER:PTHR11339:SF244,SMART:SM00214,SMART:SM00215 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . GGA . 2281.03 NA NA NA NA NA NA NA NA NA 39906145 FCGBP 0 . GRCh38 chr19 39906147 39906147 + Missense_Mutation SNP G G C novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3574C>G p.Leu1192Val p.L1192V ENST00000616721 7/28 NA NA NA NA NA NA FCGBP,missense_variant,p.Leu1192Val,ENST00000616721,NM_003890.2;FCGBP,missense_variant,p.Leu57Val,ENST00000620799,; C ENSG00000275395 ENST00000616721 Transcript missense_variant 3582/12787 3574/12615 1192/4204 L/V Ctc/Gtc 1 NA -1 FCGBP HGNC HGNC:13572 protein_coding YES ENSP00000481056 A0A087WXI2.36 UPI0004620B9E NM_003890.2 tolerated(1) benign(0.011) 7/28 Gene3D:2.10.25.10,Pfam:PF12714,PANTHER:PTHR11339,PANTHER:PTHR11339:SF244,SMART:SM00214,SMART:SM00215 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . AGG . 2281.03 NA NA NA NA NA NA NA NA NA 39906147 FCGBP 0 . GRCh38 chr19 39906157 39906158 + Frame_Shift_Del DEL CT CT - rs1374568639 NA HCI-EC-23 NORMAL CT CT NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3563_3564del p.Gln1188LeufsTer7 p.Q1188Lfs*7 ENST00000616721 7/28 NA NA NA NA NA NA FCGBP,frameshift_variant,p.Gln1188LeufsTer7,ENST00000616721,NM_003890.2;FCGBP,frameshift_variant,p.Gln53LeufsTer7,ENST00000620799,; - ENSG00000275395 ENST00000616721 Transcript frameshift_variant 3571-3572/12787 3563-3564/12615 1188/4204 Q/X cAG/c rs1374568639 1 NA -1 FCGBP HGNC HGNC:13572 protein_coding YES ENSP00000481056 A0A087WXI2.36 UPI0004620B9E NM_003890.2 7/28 Gene3D:2.10.25.10,Pfam:PF01826,PANTHER:PTHR11339,PANTHER:PTHR11339:SF244,Superfamily:SSF57567 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 NA NA NA . CACTG . 2416.03 NA NA NA NA NA NA NA NA NA 39906156 FCGBP 0 . GRCh38 chr19 39906162 39906163 + Frame_Shift_Ins INS - - AGGGG rs1266581324 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3558_3559insCCCCT p.Gly1187ProfsTer123 p.G1187Pfs*123 ENST00000616721 7/28 NA NA NA NA NA NA FCGBP,frameshift_variant,p.Gly1187ProfsTer123,ENST00000616721,NM_003890.2;FCGBP,frameshift_variant,p.Gly52ProfsTer123,ENST00000620799,; AGGGG ENSG00000275395 ENST00000616721 Transcript frameshift_variant 3566-3567/12787 3558-3559/12615 1186-1187/4204 -/PX -/CCCCT rs1266581324 1 NA -1 FCGBP HGNC HGNC:13572 protein_coding YES ENSP00000481056 A0A087WXI2.36 UPI0004620B9E NM_003890.2 7/28 Gene3D:2.10.25.10,Pfam:PF01826,PANTHER:PTHR11339,PANTHER:PTHR11339:SF244,Superfamily:SSF57567 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 insertion 1 NA NA NA . CCC . 2416.06 NA NA NA NA NA NA NA NA NA 39906162 FCGBP 0 . GRCh38 chr19 39906164 39906165 + Frame_Shift_Ins INS - - GG rs1336496653 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3556_3557insCC p.Val1186AlafsTer123 p.V1186Afs*123 ENST00000616721 7/28 NA NA NA NA NA NA FCGBP,frameshift_variant,p.Val1186AlafsTer123,ENST00000616721,NM_003890.2;FCGBP,frameshift_variant,p.Val51AlafsTer123,ENST00000620799,; GG ENSG00000275395 ENST00000616721 Transcript frameshift_variant 3564-3565/12787 3556-3557/12615 1186/4204 V/AX gtg/gCCtg rs1336496653 1 NA -1 FCGBP HGNC HGNC:13572 protein_coding YES ENSP00000481056 A0A087WXI2.36 UPI0004620B9E NM_003890.2 7/28 Gene3D:2.10.25.10,Pfam:PF01826,PANTHER:PTHR11339,PANTHER:PTHR11339:SF244,Superfamily:SSF57567 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 insertion 1 NA NA NA . CAC . 2416.06 NA NA NA NA NA NA NA NA NA 39906164 FCGBP 0 . GRCh38 chr19 39906169 39906169 + Frame_Shift_Del DEL T T - rs1213861174 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3552del p.Pro1185LeufsTer123 p.P1185Lfs*123 ENST00000616721 7/28 NA NA NA NA NA NA FCGBP,frameshift_variant,p.Pro1185LeufsTer123,ENST00000616721,NM_003890.2;FCGBP,frameshift_variant,p.Pro50LeufsTer123,ENST00000620799,; - ENSG00000275395 ENST00000616721 Transcript frameshift_variant 3560/12787 3552/12615 1184/4204 V/X gtA/gt rs1213861174 1 NA -1 FCGBP HGNC HGNC:13572 protein_coding YES ENSP00000481056 A0A087WXI2.36 UPI0004620B9E NM_003890.2 7/28 Gene3D:2.10.25.10,Pfam:PF01826,PANTHER:PTHR11339,PANTHER:PTHR11339:SF244,SMART:SM00181,Superfamily:SSF57567 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 NA NA NA . GGTA . 2416.03 NA NA NA NA NA NA NA NA NA 39906168 FCGBP 0 . GRCh38 chr19 39906191 39906191 + Missense_Mutation SNP A A G novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3530T>C p.Val1177Ala p.V1177A ENST00000616721 7/28 NA NA NA NA NA NA FCGBP,missense_variant,p.Val1177Ala,ENST00000616721,NM_003890.2;FCGBP,missense_variant,p.Val42Ala,ENST00000620799,; G ENSG00000275395 ENST00000616721 Transcript missense_variant 3538/12787 3530/12615 1177/4204 V/A gTg/gCg 1 NA -1 FCGBP HGNC HGNC:13572 protein_coding YES ENSP00000481056 A0A087WXI2.36 UPI0004620B9E NM_003890.2 tolerated(0.58) benign(0.035) 7/28 Gene3D:2.10.25.10,Pfam:PF01826,PANTHER:PTHR11339,PANTHER:PTHR11339:SF244,SMART:SM00181,Superfamily:SSF57567 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CAC . 255.93 NA NA NA NA NA NA NA NA NA 39906191 FCGBP 0 . GRCh38 chr19 39906193 39906193 + Silent SNP G G A rs1308253922 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3528C>T p.Phe1176= p.F1176= ENST00000616721 7/28 NA NA NA NA NA NA FCGBP,synonymous_variant,p.Phe1176=,ENST00000616721,NM_003890.2;FCGBP,synonymous_variant,p.Phe41=,ENST00000620799,; A ENSG00000275395 ENST00000616721 Transcript synonymous_variant 3536/12787 3528/12615 1176/4204 F ttC/ttT rs1308253922 1 NA -1 FCGBP HGNC HGNC:13572 protein_coding YES ENSP00000481056 A0A087WXI2.36 UPI0004620B9E NM_003890.2 7/28 Gene3D:2.10.25.10,Pfam:PF01826,PANTHER:PTHR11339,PANTHER:PTHR11339:SF244,SMART:SM00181,Superfamily:SSF57567 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . CGA . 255.93 8.732e-06 NA NA NA 9.367e-05 NA NA NA NA 39906193 FCGBP 0 . GRCh38 chr19 39906199 39906199 + Silent SNP A A C novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3522T>G p.Ala1174= p.A1174= ENST00000616721 7/28 NA NA NA NA NA NA FCGBP,synonymous_variant,p.Ala1174=,ENST00000616721,NM_003890.2;FCGBP,synonymous_variant,p.Ala39=,ENST00000620799,; C ENSG00000275395 ENST00000616721 Transcript synonymous_variant 3530/12787 3522/12615 1174/4204 A gcT/gcG 1 NA -1 FCGBP HGNC HGNC:13572 protein_coding YES ENSP00000481056 A0A087WXI2.36 UPI0004620B9E NM_003890.2 7/28 Gene3D:2.10.25.10,Pfam:PF01826,PANTHER:PTHR11339,PANTHER:PTHR11339:SF244,SMART:SM00181,Superfamily:SSF57567 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . CAG . 255.93 NA NA NA NA NA NA NA NA NA 39906199 FCGBP 0 . GRCh38 chr19 39906200 39906200 + Missense_Mutation SNP G G T novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3521C>A p.Ala1174Asp p.A1174D ENST00000616721 7/28 NA NA NA NA NA NA FCGBP,missense_variant,p.Ala1174Asp,ENST00000616721,NM_003890.2;FCGBP,missense_variant,p.Ala39Asp,ENST00000620799,; T ENSG00000275395 ENST00000616721 Transcript missense_variant 3529/12787 3521/12615 1174/4204 A/D gCt/gAt 1 NA -1 FCGBP HGNC HGNC:13572 protein_coding YES ENSP00000481056 A0A087WXI2.36 UPI0004620B9E NM_003890.2 tolerated(0.46) benign(0.011) 7/28 Gene3D:2.10.25.10,Pfam:PF01826,PANTHER:PTHR11339,PANTHER:PTHR11339:SF244,SMART:SM00181,Superfamily:SSF57567 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . AGC . 300.98 NA NA NA NA NA NA NA NA NA 39906200 FCGBP 0 . GRCh38 chr19 39906208 39906208 + Silent SNP G G C novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3513C>G p.Val1171= p.V1171= ENST00000616721 7/28 NA NA NA NA NA NA FCGBP,synonymous_variant,p.Val1171=,ENST00000616721,NM_003890.2;FCGBP,synonymous_variant,p.Val36=,ENST00000620799,; C ENSG00000275395 ENST00000616721 Transcript synonymous_variant 3521/12787 3513/12615 1171/4204 V gtC/gtG 1 NA -1 FCGBP HGNC HGNC:13572 protein_coding YES ENSP00000481056 A0A087WXI2.36 UPI0004620B9E NM_003890.2 7/28 Gene3D:2.10.25.10,Pfam:PF01826,PANTHER:PTHR11339,PANTHER:PTHR11339:SF244,SMART:SM00181,Superfamily:SSF57567 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . AGA . 391.01 NA NA NA NA NA NA NA NA NA 39906208 FCGBP 0 . GRCh38 chr19 39906211 39906211 + Silent SNP A A G novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3510T>C p.Cys1170= p.C1170= ENST00000616721 7/28 NA NA NA NA NA NA FCGBP,synonymous_variant,p.Cys1170=,ENST00000616721,NM_003890.2;FCGBP,synonymous_variant,p.Cys35=,ENST00000620799,; G ENSG00000275395 ENST00000616721 Transcript synonymous_variant 3518/12787 3510/12615 1170/4204 C tgT/tgC 1 NA -1 FCGBP HGNC HGNC:13572 protein_coding YES ENSP00000481056 A0A087WXI2.36 UPI0004620B9E NM_003890.2 7/28 Gene3D:2.10.25.10,Pfam:PF01826,PANTHER:PTHR11339,PANTHER:PTHR11339:SF244,SMART:SM00181,Superfamily:SSF57567 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . CAC . 436.02 NA NA NA NA NA NA NA NA NA 39906211 FCGBP 0 . GRCh38 chr19 39906217 39906217 + Silent SNP T T C rs1435709837 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3504A>G p.Glu1168= p.E1168= ENST00000616721 7/28 NA NA NA NA NA NA FCGBP,synonymous_variant,p.Glu1168=,ENST00000616721,NM_003890.2;FCGBP,synonymous_variant,p.Glu33=,ENST00000620799,; C ENSG00000275395 ENST00000616721 Transcript synonymous_variant 3512/12787 3504/12615 1168/4204 E gaA/gaG rs1435709837 1 NA -1 FCGBP HGNC HGNC:13572 protein_coding YES ENSP00000481056 A0A087WXI2.36 UPI0004620B9E NM_003890.2 7/28 Gene3D:2.10.25.10,Pfam:PF01826,PANTHER:PTHR11339,PANTHER:PTHR11339:SF244,SMART:SM00181,Superfamily:SSF57567 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . CTT . 526.02 8.755e-06 0.0001485 NA NA NA NA NA NA NA 39906217 FCGBP 0 . GRCh38 chr19 39906226 39906226 + Silent SNP G G T novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3495C>A p.Ala1165= p.A1165= ENST00000616721 7/28 NA NA NA NA NA NA FCGBP,synonymous_variant,p.Ala1165=,ENST00000616721,NM_003890.2;FCGBP,synonymous_variant,p.Ala30=,ENST00000620799,; T ENSG00000275395 ENST00000616721 Transcript synonymous_variant 3503/12787 3495/12615 1165/4204 A gcC/gcA 1 NA -1 FCGBP HGNC HGNC:13572 protein_coding YES ENSP00000481056 A0A087WXI2.36 UPI0004620B9E NM_003890.2 7/28 Gene3D:2.10.25.10,Pfam:PF01826,PANTHER:PTHR11339,PANTHER:PTHR11339:SF244,SMART:SM00181,Superfamily:SSF57567 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . AGG . 571.02 NA NA NA NA NA NA NA NA NA 39906226 FCGBP 0 . GRCh38 chr19 39906227 39906227 + Missense_Mutation SNP G G T novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3494C>A p.Ala1165Asp p.A1165D ENST00000616721 7/28 NA NA NA NA NA NA FCGBP,missense_variant,p.Ala1165Asp,ENST00000616721,NM_003890.2;FCGBP,missense_variant,p.Ala30Asp,ENST00000620799,; T ENSG00000275395 ENST00000616721 Transcript missense_variant 3502/12787 3494/12615 1165/4204 A/D gCc/gAc 1 NA -1 FCGBP HGNC HGNC:13572 protein_coding YES ENSP00000481056 A0A087WXI2.36 UPI0004620B9E NM_003890.2 tolerated(0.45) benign(0.007) 7/28 Gene3D:2.10.25.10,Pfam:PF01826,PANTHER:PTHR11339,PANTHER:PTHR11339:SF244,SMART:SM00181,Superfamily:SSF57567 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . GGC . 571.02 NA NA NA NA NA NA NA NA NA 39906227 FCGBP 0 . GRCh38 chr19 39906232 39906232 + Missense_Mutation SNP C C G novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3489G>C p.Glu1163Asp p.E1163D ENST00000616721 7/28 NA NA NA NA NA NA FCGBP,missense_variant,p.Glu1163Asp,ENST00000616721,NM_003890.2;FCGBP,missense_variant,p.Glu28Asp,ENST00000620799,; G ENSG00000275395 ENST00000616721 Transcript missense_variant 3497/12787 3489/12615 1163/4204 E/D gaG/gaC 1 NA -1 FCGBP HGNC HGNC:13572 protein_coding YES ENSP00000481056 A0A087WXI2.36 UPI0004620B9E NM_003890.2 tolerated(0.27) benign(0.001) 7/28 Gene3D:2.10.25.10,Pfam:PF01826,PANTHER:PTHR11339,PANTHER:PTHR11339:SF244,SMART:SM00181,Superfamily:SSF57567 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . ACT . 1263.03 NA NA NA NA NA NA NA NA NA 39906232 FCGBP 0 . GRCh38 chr19 39906233 39906233 + Missense_Mutation SNP T T C rs1320022007 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3488A>G p.Glu1163Gly p.E1163G ENST00000616721 7/28 NA NA NA NA NA NA FCGBP,missense_variant,p.Glu1163Gly,ENST00000616721,NM_003890.2;FCGBP,missense_variant,p.Glu28Gly,ENST00000620799,; C ENSG00000275395 ENST00000616721 Transcript missense_variant 3496/12787 3488/12615 1163/4204 E/G gAg/gGg rs1320022007 1 NA -1 FCGBP HGNC HGNC:13572 protein_coding YES ENSP00000481056 A0A087WXI2.36 UPI0004620B9E NM_003890.2 tolerated(1) benign(0) 7/28 Gene3D:2.10.25.10,Pfam:PF01826,PANTHER:PTHR11339,PANTHER:PTHR11339:SF244,SMART:SM00181,Superfamily:SSF57567 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CTC . 1305.03 NA NA NA NA NA NA NA NA NA 39906233 FCGBP 0 . GRCh38 chr19 39906242 39906242 + Missense_Mutation SNP T T C rs782103783 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3479A>G p.Glu1160Gly p.E1160G ENST00000616721 7/28 NA NA NA NA NA NA FCGBP,missense_variant,p.Glu1160Gly,ENST00000616721,NM_003890.2;FCGBP,missense_variant,p.Glu25Gly,ENST00000620799,; C ENSG00000275395 ENST00000616721 Transcript missense_variant 3487/12787 3479/12615 1160/4204 E/G gAg/gGg rs782103783 1 NA -1 FCGBP HGNC HGNC:13572 protein_coding YES ENSP00000481056 A0A087WXI2.36 UPI0004620B9E NM_003890.2 tolerated(0.79) benign(0) 7/28 Gene3D:2.10.25.10,Pfam:PF01826,PANTHER:PTHR11339,PANTHER:PTHR11339:SF244,Superfamily:SSF57567 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CTC . 1875.03 8.976e-06 NA NA NA 9.316e-05 NA NA NA NA 39906242 FCGBP 0 . GRCh38 chr19 39927172 39927172 + Missense_Mutation SNP T T A rs1348067694 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1190A>T p.Glu397Val p.E397V ENST00000616721 2/28 NA NA NA NA NA NA FCGBP,missense_variant,p.Glu397Val,ENST00000616721,NM_003890.2; A ENSG00000275395 ENST00000616721 Transcript missense_variant 1198/12787 1190/12615 397/4204 E/V gAg/gTg rs1348067694 1 NA -1 FCGBP HGNC HGNC:13572 protein_coding YES ENSP00000481056 A0A087WXI2.36 UPI0004620B9E NM_003890.2 deleterious(0.03) possibly_damaging(0.653) 2/28 Pfam:PF17517 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CTC . 4956.6 NA NA NA NA NA NA NA NA NA 39927172 FCGBP 0 . GRCh38 chr19 39927915 39927915 + Frame_Shift_Del DEL G G - rs765680504 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.447del p.Gly150AlafsTer25 p.G150Afs*25 ENST00000616721 2/28 NA NA NA NA NA NA FCGBP,frameshift_variant,p.Gly150AlafsTer25,ENST00000616721,NM_003890.2; - ENSG00000275395 ENST00000616721 Transcript frameshift_variant 455/12787 447/12615 149/4204 P/X ccC/cc rs765680504 1 NA -1 FCGBP HGNC HGNC:13572 protein_coding YES ENSP00000481056 A0A087WXI2.36 UPI0004620B9E NM_003890.2 2/28 Pfam:PF17517 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 NA NA NA . CCGG . 5801.6 NA NA NA NA NA NA NA NA NA 39927914 ARHGEF1 9138 . GRCh38 chr19 41903338 41903338 + Silent SNP G G A rs782166356 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1938G>A p.Leu646= p.L646= ENST00000599846 20/30 NA NA NA NA NA NA ARHGEF1,synonymous_variant,p.Leu646=,ENST00000599846,;ARHGEF1,synonymous_variant,p.Leu590=,ENST00000354532,NM_004706.4;ARHGEF1,synonymous_variant,p.Leu605=,ENST00000337665,NM_199002.2;ARHGEF1,synonymous_variant,p.Leu557=,ENST00000347545,NM_198977.2;ARHGEF1,synonymous_variant,p.Leu572=,ENST00000378152,;ARHGEF1,synonymous_variant,p.Leu348=,ENST00000599589,;ARHGEF1,synonymous_variant,p.Leu45=,ENST00000595723,;ARHGEF1,downstream_gene_variant,,ENST00000594258,;ARHGEF1,downstream_gene_variant,,ENST00000594521,;ERFL,downstream_gene_variant,,ENST00000597630,NM_001365103.2;ARHGEF1,non_coding_transcript_exon_variant,,ENST00000600274,;ARHGEF1,non_coding_transcript_exon_variant,,ENST00000595897,;ARHGEF1,non_coding_transcript_exon_variant,,ENST00000594044,;ARHGEF1,upstream_gene_variant,,ENST00000593609,;ARHGEF1,upstream_gene_variant,,ENST00000598444,;ARHGEF1,upstream_gene_variant,,ENST00000598587,;ARHGEF1,upstream_gene_variant,,ENST00000600517,;,regulatory_region_variant,,ENSR00000590502,; A ENSG00000076928 ENST00000599846 Transcript synonymous_variant 2063/3393 1938/2907 646/968 L ctG/ctA rs782166356 1 NA 1 ARHGEF1 HGNC HGNC:681 protein_coding YES ENSP00000470715 M0QZR4.62 UPI0002A47720 20/30 PROSITE_profiles:PS50010,CDD:cd00160,PANTHER:PTHR45872,PANTHER:PTHR45872:SF4,Pfam:PF00621,Gene3D:1.20.900.10,SMART:SM00325,Superfamily:SSF48065 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA 1 . TGG . 3146.6 3.189e-05 NA NA NA NA NA 7.061e-05 NA NA 41903338 ATP1A3 478 . GRCh38 chr19 41975725 41975725 + Missense_Mutation SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2206G>A p.Ala736Thr p.A736T ENST00000545399 16/23 NA NA NA NA NA NA ATP1A3,missense_variant,p.Ala736Thr,ENST00000545399,NM_001256214.2;ATP1A3,missense_variant,p.Ala723Thr,ENST00000648268,NM_152296.5;ATP1A3,missense_variant,p.Ala693Thr,ENST00000602133,;ATP1A3,missense_variant,p.Ala734Thr,ENST00000543770,NM_001256213.1;ATP1A3,missense_variant,p.Ala723Thr,ENST00000441343,;AC010616.1,missense_variant,p.Ala723Thr,ENST00000644613,; T ENSG00000105409 ENST00000545399 Transcript missense_variant 2400/3628 2206/3081 736/1026 A/T Gcc/Acc 1 NA -1 ATP1A3 HGNC HGNC:801 protein_coding YES CCDS58664.1 ENSP00000444688 P13637.220 UPI0001914BDE NM_001256214.2 deleterious(0.02) probably_damaging(0.991) 16/23 SFLD:SFLDG00002,SFLD:SFLDF00027,CDD:cd02608,Gene3D:1.20.1110.10,TIGRFAM:TIGR01106,TIGRFAM:TIGR01494,Gene3D:3.40.50.1000,Superfamily:SSF81665,Superfamily:SSF56784,PANTHER:PTHR43294:SF15,PANTHER:PTHR43294,Prints:PR00119 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 2 NA NA 1 . GCC . 5843.6 NA NA NA NA NA NA NA NA NA 41975725 DEDD2 162989 . GRCh38 chr19 42209831 42209831 + Frame_Shift_Del DEL G G - rs758890887 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.458del p.Pro153GlnfsTer42 p.P153Qfs*42 ENST00000596251 4/5 NA NA NA NA NA NA DEDD2,frameshift_variant,p.Pro153GlnfsTer42,ENST00000596251,NM_133328.4;DEDD2,frameshift_variant,p.Pro153GlnfsTer42,ENST00000595337,NM_001270614.2;DEDD2,frameshift_variant,p.Pro148GlnfsTer42,ENST00000336034,NM_001270615.2;DEDD2,frameshift_variant,p.Pro153GlnfsTer42,ENST00000598727,;DEDD2,non_coding_transcript_exon_variant,,ENST00000593804,;DEDD2,non_coding_transcript_exon_variant,,ENST00000602075,;DEDD2,non_coding_transcript_exon_variant,,ENST00000601135,;DEDD2,non_coding_transcript_exon_variant,,ENST00000598415,;DEDD2,non_coding_transcript_exon_variant,,ENST00000602201,;DEDD2,non_coding_transcript_exon_variant,,ENST00000600559,;DEDD2,non_coding_transcript_exon_variant,,ENST00000593561,;DEDD2,non_coding_transcript_exon_variant,,ENST00000598090,; - ENSG00000160570 ENST00000596251 Transcript frameshift_variant 542/1905 458/981 153/326 P/X cCa/ca rs758890887,COSV60141885 1 NA -1 DEDD2 HGNC HGNC:24450 protein_coding YES CCDS12597.1 ENSP00000471512 Q8WXF8.150 UPI0000046657 NM_133328.4 4/5 MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite,PANTHER:PTHR15205,PANTHER:PTHR15205:SF1 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA HIGH 1 deletion 1 NA 0,1 NA NA . TTGG . 2209.6 0.0001013 NA 0.0001281 0.0001793 8.08e-05 5.232e-05 9.921e-05 0.0005028 9.238e-05 42209830 TEX101 83639 . GRCh38 chr19 43406519 43406519 + Missense_Mutation SNP G G T NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.15G>T p.Gln5His p.Q5H ENST00000602198 3/8 NA NA NA NA NA NA TEX101,missense_variant,p.Gln5His,ENST00000602198,NM_031451.4; T ENSG00000131126 ENST00000602198 Transcript missense_variant,splice_region_variant 457/1446 15/804 5/267 Q/H caG/caT COSV53663486 1 NA 1 TEX101 HGNC HGNC:30722 protein_coding YES CCDS12619.1 ENSP00000472308 Q9BY14.128 A0A024R0T7.42 UPI000013CDD3 NM_031451.4 tolerated_low_confidence(0.16) benign(0.387) 3/8 NA NA NA NA NA NA NA NA NA 1 NA NA NA NA MODERATE 1 SNV 5 NA 1 NA NA . AGG . 2041.6 NA NA NA NA NA NA NA NA NA 43406519 ZNF575 284346 . GRCh38 chr19 43535562 43535562 + Missense_Mutation SNP C C T rs748641238 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.910C>T p.Pro304Ser p.P304S ENST00000458714 5/5 NA NA NA NA NA NA ZNF575,missense_variant,p.Pro304Ser,ENST00000458714,;ZNF575,missense_variant,p.Pro205Ser,ENST00000314228,NM_174945.3;ZNF575,missense_variant,p.Pro205Ser,ENST00000601282,;ZNF575,downstream_gene_variant,,ENST00000598080,;ZNF575,downstream_gene_variant,,ENST00000600154,;,regulatory_region_variant,,ENSR00000590912,;,TF_binding_site_variant,,ENSM00526008560,;,TF_binding_site_variant,,ENSM00522751287,;,TF_binding_site_variant,,ENSM00522992123,;,TF_binding_site_variant,,ENSM00401619805,; T ENSG00000176472 ENST00000458714 Transcript missense_variant 1717/2285 910/1035 304/344 P/S Ccc/Tcc rs748641238 1 NA 1 ZNF575 HGNC HGNC:27606 protein_coding YES ENSP00000413956 B3KQ07.99 UPI00001609BD deleterious(0.02) benign(0.014) 5/5 PANTHER:PTHR23226,PANTHER:PTHR23226:SF206,Gene3D:3.30.160.60 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 2 NA NA NA . GCC . 5860.6 4.013e-06 NA NA NA NA NA NA NA 3.269e-05 43535562 KCNN4 3783 . GRCh38 chr19 43767621 43767621 + Missense_Mutation SNP C C A novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1206G>T p.Lys402Asn p.K402N ENST00000648319 8/9 NA NA NA NA NA NA KCNN4,missense_variant,p.Lys270Asn,ENST00000615047,;KCNN4,missense_variant,p.Lys402Asn,ENST00000648319,NM_002250.3;KCNN4,missense_variant,p.Lys34Asn,ENST00000600909,;KCNN4,missense_variant,p.Lys140Asn,ENST00000598836,;KCNN4,non_coding_transcript_exon_variant,,ENST00000648053,;KCNN4,3_prime_UTR_variant,,ENST00000599720,;KCNN4,3_prime_UTR_variant,,ENST00000600408,;KCNN4,non_coding_transcript_exon_variant,,ENST00000601549,;KCNN4,non_coding_transcript_exon_variant,,ENST00000597184,; A ENSG00000104783 ENST00000648319 Transcript missense_variant 1318/1956 1206/1284 402/427 K/N aaG/aaT 1 NA -1 KCNN4 HGNC HGNC:6293 protein_coding YES CCDS12630.1 ENSP00000496939 O15554.177 UPI0000000DF3 NM_002250.3 deleterious(0.01) possibly_damaging(0.638) 8/9 Coiled-coils_(Ncoils):Coil,PANTHER:PTHR10153:SF41,PANTHER:PTHR10153 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV NA NA NA 1 . GCT . 3236.6 NA NA NA NA NA NA NA NA NA 43767621 ZNF227 7770 . GRCh38 chr19 44236206 44236206 + Silent SNP T T C rs968867846 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1776T>C p.His592= p.H592= ENST00000621083 6/6 NA NA NA NA NA NA ZNF227,synonymous_variant,p.His592=,ENST00000621083,NM_001289166.1;ZNF227,synonymous_variant,p.His592=,ENST00000313040,NM_182490.3;ZNF227,synonymous_variant,p.His541=,ENST00000391961,NM_001289169.1,NM_001289171.1,NM_001289167.1,NM_001289172.1,NM_001289168.1,NM_001289170.1;ZNF227,synonymous_variant,p.His541=,ENST00000589005,;ZNF235,3_prime_UTR_variant,,ENST00000589799,;ZNF227,downstream_gene_variant,,ENST00000586228,;ZNF227,downstream_gene_variant,,ENST00000588219,;ZNF227,downstream_gene_variant,,ENST00000588394,NM_001289173.1;ZNF227,downstream_gene_variant,,ENST00000589707,;ZNF235,intron_variant,,ENST00000592844,; C ENSG00000131115 ENST00000621083 Transcript synonymous_variant 1994/3055 1776/2400 592/799 H caT/caC rs968867846 1 NA 1 ZNF227 HGNC HGNC:13020 protein_coding YES CCDS12636.1 ENSP00000482749 Q86WZ6.152 UPI000000DC17 NM_001289166.1 6/6 Gene3D:3.30.160.60,Pfam:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,PANTHER:PTHR24376,PANTHER:PTHR24376:SF76,SMART:SM00355,Superfamily:SSF57667 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 2 NA NA NA . ATG . 2219.6 NA NA NA NA NA NA NA NA NA 44236206 ZNF112 7771 . GRCh38 chr19 44329041 44329041 + Frame_Shift_Del DEL A A - novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1134del p.Phe378LeufsTer41 p.F378Lfs*41 ENST00000337401 5/5 NA NA NA NA NA NA ZNF112,frameshift_variant,p.Phe372LeufsTer41,ENST00000354340,NM_001348282.1,NM_001348283.1,NM_013380.4;ZNF112,frameshift_variant,p.Phe378LeufsTer41,ENST00000337401,NM_001083335.2;ZNF112,downstream_gene_variant,,ENST00000587909,NM_001348284.2,NM_001348285.2;ZNF112,downstream_gene_variant,,ENST00000588057,NM_001348281.1;AC245748.1,downstream_gene_variant,,ENST00000588212,;ZNF112,downstream_gene_variant,,ENST00000590687,;ZNF112,downstream_gene_variant,,ENST00000592151,; - ENSG00000062370 ENST00000337401 Transcript frameshift_variant 1223/3321 1134/2742 378/913 F/X ttT/tt 1 NA -1 ZNF112 HGNC HGNC:12892 protein_coding YES CCDS54276.1 ENSP00000337081 Q9UJU3.174 UPI000006EC70 NM_001083335.2 5/5 Gene3D:3.30.160.60,PANTHER:PTHR24376,PANTHER:PTHR24376,PANTHER:PTHR24376:SF76,PANTHER:PTHR24376:SF76 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 NA NA NA . CTAA . 4855.6 NA NA NA NA NA NA NA NA NA 44329040 ZNF285 646915 . GRCh38 chr19 44386535 44386535 + Silent SNP G G A rs1836280 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1731C>T p.His577= p.H577= ENST00000591679 5/5 NA NA NA NA NA NA ZNF285,synonymous_variant,p.His570=,ENST00000614994,NM_152354.6,NM_001291490.2,NM_001291489.2;ZNF285,synonymous_variant,p.His570=,ENST00000544719,;ZNF285,synonymous_variant,p.His577=,ENST00000591679,NM_001291488.2;AC245748.1,intron_variant,,ENST00000588212,;ZNF285,downstream_gene_variant,,ENST00000585868,NM_001291491.2;ZNF285,downstream_gene_variant,,ENST00000589738,; A ENSG00000267508 ENST00000591679 Transcript synonymous_variant 1782/2388 1731/1794 577/597 H caC/caT rs1836280 1 NA -1 ZNF285 HGNC HGNC:13079 protein_coding YES CCDS74389.1 ENSP00000464788 K7EIK6.56 UPI0003EAEAB1 NM_001291488.2 5/5 PANTHER:PTHR24377,PANTHER:PTHR24377:SF604 NA 0.7224 0.562 NA 0.4931 0.3429 0.4254 NA NA NA NA NA NA LOW NA SNV 4 NA NA NA . AGT . 2297.6 NA NA NA NA NA NA NA NA NA 44386535 ZNF180 7733 . GRCh38 chr19 44477329 44477329 + Silent SNP A A G NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1152T>C p.Ser384= p.S384= ENST00000221327 5/5 NA NA NA NA NA NA ZNF180,synonymous_variant,p.Ser384=,ENST00000221327,NM_013256.6,NM_001288759.3;ZNF180,synonymous_variant,p.Ser359=,ENST00000391956,NM_001278508.3;ZNF180,synonymous_variant,p.Ser357=,ENST00000592529,NM_001291633.2,NM_001288761.3,NM_001278509.3,NM_001288760.3,NM_001288762.3;ZNF180,downstream_gene_variant,,ENST00000587047,;ZNF180,downstream_gene_variant,,ENST00000591064,;ZNF180,downstream_gene_variant,,ENST00000585514,;ZNF180,downstream_gene_variant,,ENST00000586637,;ZNF180,3_prime_UTR_variant,,ENST00000592095,;ZNF180,3_prime_UTR_variant,,ENST00000590088,;ZNF285B,downstream_gene_variant,,ENST00000561698,; G ENSG00000167384 ENST00000221327 Transcript synonymous_variant 1434/4335 1152/2079 384/692 S agT/agC COSV55425037 1 NA -1 ZNF180 HGNC HGNC:12970 protein_coding YES CCDS12639.1 ENSP00000221327 Q9UJW8.167 UPI000013C30E NM_013256.6,NM_001288759.3 5/5 Gene3D:3.30.160.60,Pfam:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,PANTHER:PTHR24381,PANTHER:PTHR24381:SF27,SMART:SM00355,Superfamily:SSF57667 NA NA NA NA NA NA NA NA NA 1 NA NA NA NA LOW 1 SNV 1 NA 1 NA NA . CAC . 2729.6 NA NA NA NA NA NA NA NA NA 44477329 APOE 348 . GRCh38 chr19 44908851 44908851 + Silent SNP C C T rs781722239 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.555C>T p.Arg185= p.R185= ENST00000252486 4/4 NA NA NA NA NA NA APOE,synonymous_variant,p.Arg185=,ENST00000252486,NM_001302691.2,NM_000041.4,NM_001302689.2,NM_001302690.1;APOE,synonymous_variant,p.Arg185=,ENST00000425718,;APOE,synonymous_variant,p.Arg211=,ENST00000434152,NM_001302688.2;APOE,synonymous_variant,p.Arg185=,ENST00000446996,;AC011481.3,upstream_gene_variant,,ENST00000623895,;APOE,downstream_gene_variant,,ENST00000485628,; T ENSG00000130203 ENST00000252486 Transcript synonymous_variant 624/1166 555/954 185/317 R cgC/cgT rs781722239 1 NA 1 APOE HGNC HGNC:613 protein_coding YES CCDS12647.1 ENSP00000252486 P02649.250 A0A0S2Z3D5.27 UPI0000044948 NM_001302691.2,NM_000041.4,NM_001302689.2,NM_001302690.1 4/4 PDB-ENSP_mappings:1b68.A,PDB-ENSP_mappings:1ea8.A,PDB-ENSP_mappings:1h7i.A,PDB-ENSP_mappings:1nfn.A,PDB-ENSP_mappings:1nfo.A,PDB-ENSP_mappings:2kc3.A,PDB-ENSP_mappings:2l7b.A,PDB-ENSP_mappings:6iwb.A,PDB-ENSP_mappings:6iwb.C,PANTHER:PTHR18976,PANTHER:PTHR18976:SF2,Pfam:PF01442,Gene3D:1.20.120.20,Superfamily:SSF58113 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . GCG . 1809.6 6.36e-05 NA NA NA NA NA 0.000171 NA NA 44908851 ZNF296 162979 . GRCh38 chr19 45071881 45071881 + Missense_Mutation SNP C C A novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1148G>T p.Gly383Val p.G383V ENST00000303809 3/3 NA NA NA NA NA NA ZNF296,missense_variant,p.Gly383Val,ENST00000303809,NM_145288.3;ZNF296,missense_variant,p.Gly359Val,ENST00000622376,;CLASRP,downstream_gene_variant,,ENST00000221455,NM_007056.3;CLASRP,downstream_gene_variant,,ENST00000391953,NM_001278439.2;CLASRP,downstream_gene_variant,,ENST00000544944,;CLASRP,downstream_gene_variant,,ENST00000591904,;GEMIN7-AS1,downstream_gene_variant,,ENST00000586744,;CLASRP,downstream_gene_variant,,ENST00000391952,;CLASRP,downstream_gene_variant,,ENST00000585432,;CLASRP,downstream_gene_variant,,ENST00000585615,;CLASRP,downstream_gene_variant,,ENST00000587472,;CLASRP,downstream_gene_variant,,ENST00000588070,;CLASRP,downstream_gene_variant,,ENST00000592876,; A ENSG00000170684 ENST00000303809 Transcript missense_variant 1253/1634 1148/1428 383/475 G/V gGg/gTg 1 NA -1 ZNF296 HGNC HGNC:15981 protein_coding YES CCDS12653.1 ENSP00000302770 Q8WUU4.152 UPI000013C363 NM_145288.3 deleterious(0.04) possibly_damaging(0.855) 3/3 PANTHER:PTHR45993,PANTHER:PTHR45993:SF2,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CCC . 7136.6 NA NA NA NA NA NA NA NA NA 45071881 POLR1G 10849 . GRCh38 chr19 45408830 45408830 + Frame_Shift_Del DEL A A - novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.872del p.Lys291ArgfsTer17 p.K291Rfs*17 ENST00000589804 3/3 NA NA NA NA NA NA POLR1G,frameshift_variant,p.Lys289ArgfsTer17,ENST00000309424,NM_012099.3;POLR1G,frameshift_variant,p.Lys291ArgfsTer17,ENST00000589804,NM_001297590.2;ERCC1,3_prime_UTR_variant,,ENST00000300853,NM_001369412.1,NM_001369413.1,NM_001369414.1,NM_001369415.1,NM_001983.4,NM_001369416.1;ERCC1,3_prime_UTR_variant,,ENST00000423698,;ERCC1,downstream_gene_variant,,ENST00000013807,NM_001369408.1,NM_001369410.1,NM_001369409.1,NM_001369411.1,NM_202001.3;ERCC1,downstream_gene_variant,,ENST00000340192,NM_001369417.1,NM_001369418.1,NM_001166049.2,NM_001369419.1;PPP1R13L,upstream_gene_variant,,ENST00000360957,NM_006663.4;PPP1R13L,upstream_gene_variant,,ENST00000418234,NM_001142502.2;ERCC1,downstream_gene_variant,,ENST00000589165,;ERCC1,downstream_gene_variant,,ENST00000589381,;ERCC1,downstream_gene_variant,,ENST00000590701,;POLR1G,downstream_gene_variant,,ENST00000590794,;ERCC1,downstream_gene_variant,,ENST00000591636,;PPP1R13L,upstream_gene_variant,,ENST00000592134,;ERCC1,downstream_gene_variant,,ENST00000592444,;POLR1G,downstream_gene_variant,,ENST00000592852,;PPP1R13L,upstream_gene_variant,,ENST00000593226,;ERCC1,downstream_gene_variant,,ENST00000588738,;ERCC1,downstream_gene_variant,,ENST00000592410,;PPP1R13L,upstream_gene_variant,,ENST00000585905,;ERCC1,downstream_gene_variant,,ENST00000587888,; - ENSG00000117877 ENST00000589804 Transcript frameshift_variant 874/1830 868/1539 290/512 K/X Aaa/aa 1 NA 1 POLR1G HGNC HGNC:24219 protein_coding YES CCDS74397.1 ENSP00000465099 O15446.158 UPI000006DE66 NM_001297590.2 3/3 PANTHER:PTHR15484,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 4 NA NA . CCAA . 2579.6 NA NA NA NA NA NA NA NA NA 45408829 RSPH6A 81492 . GRCh38 chr19 45795880 45795881 + In_Frame_Ins INS - - CTCCTCGCCCTCCTCCTC rs3217398 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2125_2142dup p.Glu709_Glu714dup p.E709_E714dup ENST00000221538 6/6 NA NA NA NA NA NA RSPH6A,inframe_insertion,p.Glu709_Glu714dup,ENST00000221538,NM_030785.4;RSPH6A,inframe_insertion,p.Glu445_Glu450dup,ENST00000600188,;RSPH6A,3_prime_UTR_variant,,ENST00000597055,;DMWD,upstream_gene_variant,,ENST00000270223,NM_004943.2;DMWD,upstream_gene_variant,,ENST00000377735,;DMWD,upstream_gene_variant,,ENST00000597053,;DMWD,upstream_gene_variant,,ENST00000598237,;DMWD,upstream_gene_variant,,ENST00000601370,; CTCCTCGCCCTCCTCCTC ENSG00000104941 ENST00000221538 Transcript inframe_insertion 2274-2275/2442 2142-2143/2154 714-715/717 -/EEEGEE -/GAGGAGGAGGGCGAGGAG rs3217398 1 NA -1 RSPH6A HGNC HGNC:14241 protein_coding YES CCDS12675.1 ENSP00000221538 Q9H0K4.125 UPI0000037C58 NM_030785.4 6/6 PANTHER:PTHR13159:SF1,PANTHER:PTHR13159,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 insertion 1 NA NA NA . GTC . 878.64 NA NA NA NA NA NA NA NA NA 45795880 CCDC61 729440 . GRCh38 chr19 46018084 46018084 + Frame_Shift_Del DEL C C - NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1380del p.Val461TrpfsTer34 p.V461Wfs*34 ENST00000595358 13/14 NA NA NA NA NA NA CCDC61,frameshift_variant,p.Val461TrpfsTer34,ENST00000595358,NM_001267723.2;CCDC61,frameshift_variant,p.Val281TrpfsTer34,ENST00000536603,;CCDC61,frameshift_variant,p.Val281TrpfsTer34,ENST00000594087,;PGLYRP1,downstream_gene_variant,,ENST00000008938,NM_005091.3;MIR769,upstream_gene_variant,,ENST00000390225,;CCDC61,upstream_gene_variant,,ENST00000601763,;CCDC61,downstream_gene_variant,,ENST00000596687,;CCDC61,downstream_gene_variant,,ENST00000599044,;,regulatory_region_variant,,ENSR00000288685,; - ENSG00000104983 ENST00000595358 Transcript frameshift_variant 1424/1817 1375/1539 459/512 P/X Ccc/cc COSV99151542 1 NA 1 CCDC61 HGNC HGNC:33629 protein_coding YES CCDS46120.2 ENSP00000471454 Q9Y6R9.112 UPI000040C0FF NM_001267723.2 13/14 MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite,PANTHER:PTHR22691:SF1,PANTHER:PTHR22691 NA NA NA NA NA NA NA NA NA 1 NA NA NA NA HIGH NA deletion 5 5 1 NA NA . CTCC . 744.6 NA NA NA NA NA NA NA NA NA 46018083 IGFL4 444882 . GRCh38 chr19 46040279 46040279 + Missense_Mutation SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.208C>T p.Pro70Ser p.P70S ENST00000377697 3/4 NA NA NA NA NA NA IGFL4,missense_variant,p.Pro70Ser,ENST00000377697,NM_001002923.2;IGFL4,5_prime_UTR_variant,,ENST00000601672,;IGFL4,downstream_gene_variant,,ENST00000595006,; A ENSG00000204869 ENST00000377697 Transcript missense_variant 262/573 208/375 70/124 P/S Ccc/Tcc 1 NA -1 IGFL4 HGNC HGNC:32931 protein_coding YES CCDS33057.1 ENSP00000366926 Q6B9Z1.94 UPI00003FF1E1 NM_001002923.2 deleterious(0.03) benign(0.301) 3/4 PANTHER:PTHR34827,PANTHER:PTHR34827:SF1,Pfam:PF14653 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . GGC . 4196.6 NA NA NA NA NA NA NA NA NA 46040279 CCDC8 83987 . GRCh38 chr19 46412569 46412571 + In_Frame_Del DEL CTC CTC - rs746497877 NA HCI-EC-23 NORMAL CTC CTC NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.240_242del p.Arg81del p.R81del ENST00000307522 1/1 NA NA NA NA NA NA CCDC8,inframe_deletion,p.Arg81del,ENST00000307522,NM_032040.5;,regulatory_region_variant,,ENSR00000110363,; - ENSG00000169515 ENST00000307522 Transcript inframe_deletion 994-996/3236 240-242/1617 80-81/538 RR/R agGAGa/aga rs746497877 1 NA -1 CCDC8 HGNC HGNC:25367 protein_coding YES CCDS12685.1 ENSP00000303158 Q9H0W5.141 UPI00000730F2 NM_032040.5 1/1 Pfam:PF14893,PANTHER:PTHR47741,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 deletion NA NA NA 1 . CTCTCC . 5072.6 8.132e-06 NA NA NA NA NA 8.917e-06 NA 3.284e-05 46412568 CCDC8 83987 . GRCh38 chr19 46412768 46412768 + Frame_Shift_Del DEL G G - novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.43del p.Arg15GlyfsTer27 p.R15Gfs*27 ENST00000307522 1/1 NA NA NA NA NA NA CCDC8,frameshift_variant,p.Arg15GlyfsTer27,ENST00000307522,NM_032040.5;,regulatory_region_variant,,ENSR00000110363,; - ENSG00000169515 ENST00000307522 Transcript frameshift_variant 797/3236 43/1617 15/538 R/X Cgg/gg 1 NA -1 CCDC8 HGNC HGNC:25367 protein_coding YES CCDS12685.1 ENSP00000303158 Q9H0W5.141 UPI00000730F2 NM_032040.5 1/1 Pfam:PF14893,PANTHER:PTHR47741 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion NA NA NA 1 . CCGG . 3695.6 NA NA NA NA NA NA NA NA NA 46412767 DHX34 9704 . GRCh38 chr19 47353402 47353402 + Silent SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.372C>T p.His124= p.H124= ENST00000328771 2/17 NA NA NA NA NA NA DHX34,synonymous_variant,p.His124=,ENST00000328771,NM_014681.6;DHX34,upstream_gene_variant,,ENST00000471451,;,regulatory_region_variant,,ENSR00000110545,;,TF_binding_site_variant,,ENSM00205105440,;,TF_binding_site_variant,,ENSM00205054104,; T ENSG00000134815 ENST00000328771 Transcript synonymous_variant 687/4338 372/3432 124/1143 H caC/caT 1 NA 1 DHX34 HGNC HGNC:16719 protein_coding YES CCDS12700.1 ENSP00000331907 Q14147.169 UPI0000202759 NM_014681.6 2/17 PANTHER:PTHR18934,PANTHER:PTHR18934:SF148 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA 1 . ACT . 8231.6 NA NA NA NA NA NA NA NA NA 47353402 DHX34 9704 . GRCh38 chr19 47376508 47376508 + Silent SNP C C T rs1057000349 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2547C>T p.Pro849= p.P849= ENST00000328771 12/17 NA NA NA NA NA NA DHX34,synonymous_variant,p.Pro849=,ENST00000328771,NM_014681.6;DHX34,downstream_gene_variant,,ENST00000471451,;DHX34,synonymous_variant,p.Pro238=,ENST00000460681,;DHX34,non_coding_transcript_exon_variant,,ENST00000486327,; T ENSG00000134815 ENST00000328771 Transcript synonymous_variant 2862/4338 2547/3432 849/1143 P ccC/ccT rs1057000349 1 NA 1 DHX34 HGNC HGNC:16719 protein_coding YES CCDS12700.1 ENSP00000331907 Q14147.169 UPI0000202759 NM_014681.6 12/17 Pfam:PF07717,PANTHER:PTHR18934,PANTHER:PTHR18934:SF148 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA 1 . CCG . 5450.6 4.606e-06 NA 3.179e-05 NA NA NA NA NA NA 47376508 KPTN 11133 . GRCh38 chr19 47479869 47479869 + Missense_Mutation SNP C C A novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.781G>T p.Ala261Ser p.A261S ENST00000338134 8/12 NA NA NA NA NA NA KPTN,missense_variant,p.Ala261Ser,ENST00000338134,NM_001291296.2,NM_007059.4;KPTN,missense_variant,p.Ala205Ser,ENST00000595554,;KPTN,missense_variant,p.Ala21Ser,ENST00000600271,;NAPA-AS1,upstream_gene_variant,,ENST00000593284,;NAPA-AS1,upstream_gene_variant,,ENST00000594367,;AC073548.2,downstream_gene_variant,,ENST00000669287,;KPTN,downstream_gene_variant,,ENST00000595484,;KPTN,downstream_gene_variant,,ENST00000598699,;KPTN,upstream_gene_variant,,ENST00000600551,;KPTN,downstream_gene_variant,,ENST00000602193,;KPTN,3_prime_UTR_variant,,ENST00000594208,;KPTN,downstream_gene_variant,,ENST00000594139,; A ENSG00000118162 ENST00000338134 Transcript missense_variant 840/1636 781/1311 261/436 A/S Gcc/Tcc 1 NA -1 KPTN HGNC HGNC:6404 protein_coding YES CCDS42583.1 ENSP00000337850 Q9Y664.137 A0A384NLB4.10 UPI000007002E NM_001291296.2,NM_007059.4 tolerated(0.92) benign(0.001) 8/12 PANTHER:PTHR15435 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . GCG . 2742.6 NA NA NA NA NA NA NA NA NA 47479869 EHD2 30846 . GRCh38 chr19 47741030 47741030 + Frame_Shift_Del DEL G G - novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1235del p.Gly412AlafsTer35 p.G412Afs*35 ENST00000263277 6/6 NA NA NA NA NA NA EHD2,frameshift_variant,p.Gly412AlafsTer35,ENST00000263277,NM_014601.4;EHD2,frameshift_variant,p.Gly276AlafsTer35,ENST00000538399,;NOP53,upstream_gene_variant,,ENST00000246802,NM_015710.5;EHD2,non_coding_transcript_exon_variant,,ENST00000540884,;NOP53,upstream_gene_variant,,ENST00000598681,;NOP53,upstream_gene_variant,,ENST00000599253,;NOP53,upstream_gene_variant,,ENST00000599582,;EHD2,3_prime_UTR_variant,,ENST00000596225,;NOP53,upstream_gene_variant,,ENST00000594525,;NOP53,upstream_gene_variant,,ENST00000600410,;,regulatory_region_variant,,ENSR00001025421,; - ENSG00000024422 ENST00000263277 Transcript frameshift_variant 1402/3506 1230/1632 410/543 Q/X caG/ca 1 NA 1 EHD2 HGNC HGNC:3243 protein_coding YES CCDS12704.1 ENSP00000263277 Q9NZN4.174 A0A024R0S6.42 UPI0000071B66 NM_014601.4 6/6 PANTHER:PTHR11216,PANTHER:PTHR11216:SF62 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 5 NA NA . CAGG . 4793.6 NA NA NA NA NA NA NA NA NA 47741029 FTL 2512 . GRCh38 chr19 48966719 48966720 + Frame_Shift_Del DEL CT CT - rs766011614 NA HCI-EC-23 NORMAL CT CT NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.515_516del p.Leu172GlnfsTer8 p.L172Qfs*8 ENST00000331825 4/4 NA NA NA NA NA NA FTL,frameshift_variant,p.Leu172GlnfsTer8,ENST00000331825,NM_000146.4;GYS1,downstream_gene_variant,,ENST00000263276,NM_001161587.2;BAX,downstream_gene_variant,,ENST00000293288,NM_004324.4;GYS1,downstream_gene_variant,,ENST00000323798,NM_002103.5;BAX,downstream_gene_variant,,ENST00000345358,NM_001291428.2,NM_138761.4;BAX,downstream_gene_variant,,ENST00000391871,;GYS1,downstream_gene_variant,,ENST00000594220,;AC026803.2,downstream_gene_variant,,ENST00000594305,;AC026803.2,downstream_gene_variant,,ENST00000599784,;GYS1,downstream_gene_variant,,ENST00000472004,;GYS1,downstream_gene_variant,,ENST00000496048,;,regulatory_region_variant,,ENSR00000110810,; - ENSG00000087086 ENST00000331825 Transcript frameshift_variant 711-712/871 512-513/528 171/175 T/X aCT/a rs766011614 1 NA 1 FTL HGNC HGNC:3999 protein_coding YES CCDS33070.1 ENSP00000366525 P02792.213 A0A384MDR3.9 UPI0000161F61 NM_000146.4 4/4 PDB-ENSP_mappings:2ffx.J,PDB-ENSP_mappings:2fg4.A,PDB-ENSP_mappings:2fg8.A,PDB-ENSP_mappings:2fg8.B,PDB-ENSP_mappings:2fg8.C,PDB-ENSP_mappings:2fg8.D,PDB-ENSP_mappings:2fg8.E,PDB-ENSP_mappings:2fg8.F,PDB-ENSP_mappings:2fg8.G,PDB-ENSP_mappings:2fg8.H,PDB-ENSP_mappings:3kxu.A,PDB-ENSP_mappings:5lg8.A,PDB-ENSP_mappings:6tr9.AAA,PDB-ENSP_mappings:6ts0.AAA,PDB-ENSP_mappings:6ts1.AAA,PDB-ENSP_mappings:6tsa.AAA,PDB-ENSP_mappings:6tsf.AAA,PDB-ENSP_mappings:6tsj.AAA,PDB-ENSP_mappings:6wx6.A,PDB-ENSP_mappings:6wx6.B,PDB-ENSP_mappings:6wx6.C,PDB-ENSP_mappings:6wx6.D,PDB-ENSP_mappings:6wx6.E,PDB-ENSP_mappings:6wx6.F,PDB-ENSP_mappings:6wx6.G,PDB-ENSP_mappings:6wx6.H,PDB-ENSP_mappings:6wx6.I,PDB-ENSP_mappings:6wx6.J,PDB-ENSP_mappings:6wx6.K,PDB-ENSP_mappings:6wx6.L,PDB-ENSP_mappings:6wx6.M,PDB-ENSP_mappings:6wx6.N,PDB-ENSP_mappings:6wx6.O,PDB-ENSP_mappings:6wx6.P,PDB-ENSP_mappings:6wx6.Q,PDB-ENSP_mappings:6wx6.R,PDB-ENSP_mappings:6wx6.S,PDB-ENSP_mappings:6wx6.T,PDB-ENSP_mappings:6wx6.U,PDB-ENSP_mappings:6wx6.V,PDB-ENSP_mappings:6wx6.W,PDB-ENSP_mappings:6wx6.X,PANTHER:PTHR11431:SF47,PANTHER:PTHR11431,Gene3D:1.20.1260.10,Superfamily:SSF47240 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 3 NA 1 . CACTC . 1946.6 1.194e-05 NA NA NA NA NA 1.761e-05 NA 3.266e-05 48966718 CGB5 94115 . GRCh38 chr19 49045229 49045229 + Frame_Shift_Del DEL C C - novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.438del p.Ser147AlafsTer? p.S147Afs*? ENST00000301408 3/3 NA NA NA NA NA NA CGB5,frameshift_variant,p.Ser147AlafsTer?,ENST00000301408,NM_033043.2;CGB8,downstream_gene_variant,,ENST00000448456,NM_033183.3;AC008687.5,downstream_gene_variant,,ENST00000593746,;AC008687.6,downstream_gene_variant,,ENST00000596318,; - ENSG00000189052 ENST00000301408 Transcript frameshift_variant 795/877 433/498 145/165 P/X Ccc/cc 1 NA 1 CGB5 HGNC HGNC:16452 protein_coding YES CCDS12752.1 ENSP00000301408 P0DN86.32 A0A0F7RQP8.45 UPI0000035497 NM_033043.2 3/3 PDB-ENSP_mappings:1hcn.B,PDB-ENSP_mappings:1hrp.B,PDB-ENSP_mappings:1qfw.B,Low_complexity_(Seg):seg,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite,PANTHER:PTHR11515:SF27,PANTHER:PTHR11515 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 5 NA NA . CTCC . 1250.6 NA NA NA NA NA NA NA NA NA 49045228 SNRNP70 6625 . GRCh38 chr19 49107895 49107900 + In_Frame_Del DEL CGCTCC CGCTCC - rs1244505864 NA HCI-EC-23 NORMAL CGCTCC CGCTCC NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.774_779del p.Ser259_Arg260del p.S259_R260del ENST00000598441 10/10 NA NA NA NA NA NA SNRNP70,inframe_deletion,p.Ser259_Arg260del,ENST00000598441,NM_003089.6;SNRNP70,inframe_deletion,p.Ser250_Arg251del,ENST00000221448,NM_001301069.2;SNRNP70,3_prime_UTR_variant,,ENST00000401730,;SNRNP70,3_prime_UTR_variant,,ENST00000601065,;SNRNP70,3_prime_UTR_variant,,ENST00000595231,;SNRNP70,non_coding_transcript_exon_variant,,ENST00000544278,; - ENSG00000104852 ENST00000598441 Transcript inframe_deletion 962-967/1671 766-771/1314 256-257/437 RS/- CGCTCC/- rs1244505864 1 NA 1 SNRNP70 HGNC HGNC:11150 protein_coding YES CCDS12756.1 ENSP00000472998 P08621.226 A0A024QZD5.53 UPI00001352E4 NM_003089.6 10/10 PDB-ENSP_mappings:3pgw.L,PDB-ENSP_mappings:3pgw.S,PDB-ENSP_mappings:6qx9.1K,Low_complexity_(Seg):seg,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite,PANTHER:PTHR13952,PANTHER:PTHR13952:SF14 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 deletion 1 8 NA NA . GACGCTCCC . 4475.6 NA NA NA NA NA NA NA NA NA 49107894 KASH5 147872 . GRCh38 chr19 49395261 49395261 + Missense_Mutation SNP C C T rs1161198901 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.304C>T p.Arg102Cys p.R102C ENST00000447857 4/20 NA NA NA NA NA NA KASH5,missense_variant,p.Arg102Cys,ENST00000447857,NM_144688.5;KASH5,missense_variant,p.Arg66Cys,ENST00000600570,;KASH5,missense_variant,p.Arg102Cys,ENST00000594043,;KASH5,missense_variant,p.Arg88Cys,ENST00000595828,;KASH5,missense_variant,p.Arg75Cys,ENST00000598730,;KASH5,missense_variant,p.Arg75Cys,ENST00000594905,;KASH5,downstream_gene_variant,,ENST00000593725,;KASH5,non_coding_transcript_exon_variant,,ENST00000596771,;KASH5,upstream_gene_variant,,ENST00000593631,;KASH5,upstream_gene_variant,,ENST00000596130,;KASH5,downstream_gene_variant,,ENST00000596862,;KASH5,downstream_gene_variant,,ENST00000597993,;KASH5,downstream_gene_variant,,ENST00000600895,; T ENSG00000161609 ENST00000447857 Transcript missense_variant 478/2343 304/1689 102/562 R/C Cgt/Tgt rs1161198901,COSV71358040 1 NA 1 KASH5 HGNC HGNC:26520 protein_coding YES CCDS46140.1 ENSP00000404220 Q8N6L0.135 UPI000006F690 NM_144688.5 deleterious(0) possibly_damaging(0.855) 4/20 PANTHER:PTHR47300,Pfam:PF14658,Superfamily:SSF47473 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 1 NA 0,1 NA NA . GCG . 4364.6 4.027e-06 NA NA NA NA NA NA NA 3.274e-05 49395261 FLT3LG 2323 . GRCh38 chr19 49480389 49480389 + Silent SNP G G A rs1218030099 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.573G>A p.Leu191= p.L191= ENST00000594009 6/8 NA NA NA NA NA NA FLT3LG,synonymous_variant,p.Leu109=,ENST00000595510,;FLT3LG,synonymous_variant,p.Leu191=,ENST00000594009,NM_001204503.2;FLT3LG,synonymous_variant,p.Leu191=,ENST00000597551,NM_001204502.2,NM_001459.4;FLT3LG,synonymous_variant,p.Leu109=,ENST00000204637,NM_001278638.2,NM_001278637.2;FLT3LG,synonymous_variant,p.Leu173=,ENST00000596435,;FLT3LG,synonymous_variant,p.Leu191=,ENST00000600429,;FLT3LG,intron_variant,,ENST00000597914,;FLT3LG,intron_variant,,ENST00000598555,;AC010619.2,non_coding_transcript_exon_variant,,ENST00000595815,;FLT3LG,3_prime_UTR_variant,,ENST00000600084,;FLT3LG,3_prime_UTR_variant,,ENST00000601800,;FLT3LG,non_coding_transcript_exon_variant,,ENST00000598472,;AC010619.1,intron_variant,,ENST00000599536,;FLT3LG,downstream_gene_variant,,ENST00000593422,; A ENSG00000090554 ENST00000594009 Transcript synonymous_variant 652/1076 573/708 191/235 L ctG/ctA rs1218030099 1 NA 1 FLT3LG HGNC HGNC:3766 protein_coding YES CCDS12767.1 ENSP00000469613 P49771.168 UPI0000037544 NM_001204503.2 6/8 Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PANTHER:PTHR11032 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . TGC . 1591.6 NA NA NA NA NA NA NA NA NA 49480389 RPS11 84546 . GRCh38 chr19 49499574 49499574 + Missense_Mutation SNP G G A rs777616693 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.416G>A p.Arg139His p.R139H ENST00000270625 5/5 NA NA NA NA NA NA RPS11,missense_variant,p.Arg60His,ENST00000594493,;RPS11,missense_variant,p.Arg139His,ENST00000270625,NM_001015.5;RPS11,3_prime_UTR_variant,,ENST00000599561,;RPS11,downstream_gene_variant,,ENST00000596873,;SNORD35B,downstream_gene_variant,,ENST00000363660,;MIR150,downstream_gene_variant,,ENST00000385048,;RPS11,3_prime_UTR_variant,,ENST00000601306,;RPS11,non_coding_transcript_exon_variant,,ENST00000599167,;RPS11,non_coding_transcript_exon_variant,,ENST00000600027,;RPS11,non_coding_transcript_exon_variant,,ENST00000602252,;RPS11,downstream_gene_variant,,ENST00000601216,;,regulatory_region_variant,,ENSR00000110907,;COX6CP7,downstream_gene_variant,,ENST00000597056,; A ENSG00000142534 ENST00000270625 Transcript missense_variant 439/573 416/477 139/158 R/H cGc/cAc rs777616693 1 NA 1 RPS11 HGNC HGNC:10384 protein_coding YES CCDS12769.1 ENSP00000270625 P62280.176 UPI0000001686 NM_001015.5 tolerated(0.1) benign(0.013) 5/5 PDB-ENSP_mappings:4ug0.SL,PDB-ENSP_mappings:4v6x.AL,PDB-ENSP_mappings:5a2q.L,PDB-ENSP_mappings:5aj0.BL,PDB-ENSP_mappings:5flx.L,PDB-ENSP_mappings:5lks.SL,PDB-ENSP_mappings:5oa3.L,PDB-ENSP_mappings:5t2c.Aw,PDB-ENSP_mappings:5vyc.L1,PDB-ENSP_mappings:5vyc.L2,PDB-ENSP_mappings:5vyc.L3,PDB-ENSP_mappings:5vyc.L4,PDB-ENSP_mappings:5vyc.L5,PDB-ENSP_mappings:5vyc.L6,PDB-ENSP_mappings:6ek0.SL,PDB-ENSP_mappings:6fec.G,PDB-ENSP_mappings:6g18.L,PDB-ENSP_mappings:6g4s.L,PDB-ENSP_mappings:6g4w.L,PDB-ENSP_mappings:6g51.L,PDB-ENSP_mappings:6g53.L,PDB-ENSP_mappings:6g5h.L,PDB-ENSP_mappings:6g5i.L,PDB-ENSP_mappings:6ip5.2v,PDB-ENSP_mappings:6ip6.2v,PDB-ENSP_mappings:6ip8.2v,PDB-ENSP_mappings:6ole.SL,PDB-ENSP_mappings:6olf.SL,PDB-ENSP_mappings:6olg.BL,PDB-ENSP_mappings:6oli.SL,PDB-ENSP_mappings:6olz.BL,PDB-ENSP_mappings:6om0.SL,PDB-ENSP_mappings:6om7.SL,PDB-ENSP_mappings:6qzp.SL,PDB-ENSP_mappings:6y0g.SL,PDB-ENSP_mappings:6y2l.SL,PDB-ENSP_mappings:6y57.SL,PANTHER:PTHR10744:SF9,PANTHER:PTHR10744,TIGRFAM:TIGR03630,Pfam:PF00366,Gene3D:2.40.50.1000,Superfamily:SSF50249,Prints:PR00973 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CGC . 5388.6 NA NA NA NA NA NA NA NA NA 49499574 PTOV1 53635 . GRCh38 chr19 49860270 49860270 + Frame_Shift_Del DEL G G - novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1248del p.Ter417SerfsTer14 p.*417Sfs*14 ENST00000391842 12/12 NA NA NA NA NA NA PTOV1,frameshift_variant,p.Ter417SerfsTer14,ENST00000391842,;PTOV1,frameshift_variant,p.Ter417SerfsTer14,ENST00000601675,NM_001364748.1,NM_017432.5;PTOV1,frameshift_variant,p.Ter417SerfsTer14,ENST00000599732,NM_001364750.1,NM_001305105.2;PTOV1,frameshift_variant,p.Gly361ValfsTer77,ENST00000600603,NM_001305108.1;PTOV1,frameshift_variant,p.Ter385SerfsTer14,ENST00000601638,NM_001364749.1,NM_001364747.1,NM_001364745.2;PTOV1,frameshift_variant,p.Ter112SerfsTer14,ENST00000601093,;PTOV1,3_prime_UTR_variant,,ENST00000597730,;PNKP,intron_variant,,ENST00000636840,;PNKP,downstream_gene_variant,,ENST00000322344,NM_007254.4;PTOV1,downstream_gene_variant,,ENST00000594151,;PNKP,downstream_gene_variant,,ENST00000596014,;PNKP,downstream_gene_variant,,ENST00000596726,;PNKP,downstream_gene_variant,,ENST00000597965,;PNKP,downstream_gene_variant,,ENST00000599543,;PNKP,downstream_gene_variant,,ENST00000600573,;PTOV1,downstream_gene_variant,,ENST00000600793,;PNKP,downstream_gene_variant,,ENST00000600910,;PNKP,downstream_gene_variant,,ENST00000627317,;PNKP,downstream_gene_variant,,ENST00000631020,;PTOV1-AS2,upstream_gene_variant,,ENST00000593654,;PTOV1-AS2,upstream_gene_variant,,ENST00000599259,;PTOV1-AS2,upstream_gene_variant,,ENST00000601893,;PTOV1,splice_region_variant,,ENST00000598325,;PNKP,non_coding_transcript_exon_variant,,ENST00000596624,;PTOV1,downstream_gene_variant,,ENST00000594165,;PTOV1,downstream_gene_variant,,ENST00000600105,;PNKP,downstream_gene_variant,,ENST00000637325,;PTOV1,splice_region_variant,,ENST00000597793,;PTOV1,splice_region_variant,,ENST00000601612,;PNKP,downstream_gene_variant,,ENST00000593706,;PNKP,downstream_gene_variant,,ENST00000593946,;PNKP,downstream_gene_variant,,ENST00000594661,;PNKP,downstream_gene_variant,,ENST00000595081,;PTOV1,downstream_gene_variant,,ENST00000595934,;PTOV1,downstream_gene_variant,,ENST00000596424,;PNKP,downstream_gene_variant,,ENST00000598020,;PTOV1,downstream_gene_variant,,ENST00000598632,;PNKP,downstream_gene_variant,,ENST00000599454,;PNKP,downstream_gene_variant,,ENST00000601816,;PNKP,downstream_gene_variant,,ENST00000625216,;PNKP,downstream_gene_variant,,ENST00000625299,;PNKP,downstream_gene_variant,,ENST00000627232,;PNKP,downstream_gene_variant,,ENST00000629179,;PNKP,downstream_gene_variant,,ENST00000636214,;PNKP,downstream_gene_variant,,ENST00000640501,;,regulatory_region_variant,,ENSR00000592719,; - ENSG00000104960 ENST00000391842 Transcript frameshift_variant,splice_region_variant 1412/1875 1242/1251 414/416 M/X atG/at 1 NA 1 PTOV1 HGNC HGNC:9632 protein_coding YES CCDS12782.1 ENSP00000375717 Q86YD1.134 UPI000000DA02 12/12 PANTHER:PTHR12433,PANTHER:PTHR12433:SF3 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH NA deletion 5 6 NA NA . ATGG . 1736.6 NA NA NA NA NA NA NA NA NA 49860269 POLD1 5424 . GRCh38 chr19 50402057 50402057 + Silent SNP G G C rs774283364 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.522G>C p.Arg174= p.R174= ENST00000595904 5/27 NA NA NA NA NA NA POLD1,synonymous_variant,p.Arg174=,ENST00000601098,;POLD1,synonymous_variant,p.Arg174=,ENST00000595904,NM_001308632.1;POLD1,synonymous_variant,p.Arg174=,ENST00000599857,NM_001256849.1;POLD1,synonymous_variant,p.Arg174=,ENST00000440232,NM_002691.4;POLD1,synonymous_variant,p.Arg174=,ENST00000613923,;POLD1,downstream_gene_variant,,ENST00000593887,;POLD1,upstream_gene_variant,,ENST00000644560,;POLD1,synonymous_variant,p.Arg174=,ENST00000600859,;POLD1,synonymous_variant,p.Arg174=,ENST00000643407,;POLD1,non_coding_transcript_exon_variant,,ENST00000600746,;,regulatory_region_variant,,ENSR00000592868,; C ENSG00000062822 ENST00000595904 Transcript synonymous_variant 567/3514 522/3402 174/1133 R cgG/cgC rs774283364 1 NA 1 POLD1 HGNC HGNC:9175 protein_coding YES CCDS82381.1 ENSP00000472445 M0R2B7.68 UPI00015DF997 NM_001308632.1 5/27 PANTHER:PTHR10322,PANTHER:PTHR10322:SF23,Gene3D:3.30.342.10,Pfam:PF03104,Superfamily:SSF53098 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA 1 NA 1 . GGG . 9307.6 3.985e-06 NA NA NA NA NA NA NA 3.267e-05 50402057 FAM71E1 112703 . GRCh38 chr19 50476348 50476348 + Frame_Shift_Del DEL G G - novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.41del p.Pro14LeufsTer17 p.P14Lfs*17 ENST00000600100 1/5 NA NA NA NA NA NA FAM71E1,frameshift_variant,p.Pro14LeufsTer17,ENST00000600100,NM_001308429.2;FAM71E1,frameshift_variant,p.Pro14LeufsTer17,ENST00000595790,NM_138411.3;EMC10,upstream_gene_variant,,ENST00000334976,NM_206538.4;EMC10,upstream_gene_variant,,ENST00000376918,NM_175063.6;EMC10,upstream_gene_variant,,ENST00000597426,;EMC10,upstream_gene_variant,,ENST00000597799,;EMC10,upstream_gene_variant,,ENST00000598585,;AC020909.3,downstream_gene_variant,,ENST00000598194,;FAM71E1,upstream_gene_variant,,ENST00000593796,;EMC10,upstream_gene_variant,,ENST00000594508,;FAM71E1,upstream_gene_variant,,ENST00000599206,;EMC10,upstream_gene_variant,,ENST00000599293,;FAM71E1,upstream_gene_variant,,ENST00000600330,;EMC10,upstream_gene_variant,,ENST00000601780,;FAM71E1,upstream_gene_variant,,ENST00000602178,;,regulatory_region_variant,,ENSR00000111068,;,TF_binding_site_variant,,ENSM00163612949,;,TF_binding_site_variant,,ENSM00054560971,; - ENSG00000142530 ENST00000600100 Transcript frameshift_variant 501/1375 41/744 14/247 P/X cCt/ct 1 NA -1 FAM71E1 HGNC HGNC:25107 protein_coding YES CCDS77337.1 ENSP00000472421 Q6IPT2.108 UPI00001609CB NM_001308429.2 1/5 Low_complexity_(Seg):seg,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 NA NA NA . GAGG . 5689.6 NA NA NA NA NA NA NA NA NA 50476347 LRRC4B 94030 . GRCh38 chr19 50518124 50518124 + Missense_Mutation SNP G G A NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1589C>T p.Ala530Val p.A530V ENST00000652263 3/3 NA NA NA NA NA NA LRRC4B,missense_variant,p.Ala530Val,ENST00000652263,NM_001080457.2;LRRC4B,missense_variant,p.Ala530Val,ENST00000599957,NM_001348568.1;LRRC4B,missense_variant,p.Ala530Val,ENST00000389201,;ASPDH,upstream_gene_variant,,ENST00000376916,NM_001024656.3;ASPDH,upstream_gene_variant,,ENST00000389208,NM_001114598.2;ASPDH,upstream_gene_variant,,ENST00000598657,;LRRC4B,downstream_gene_variant,,ENST00000600381,;ASPDH,upstream_gene_variant,,ENST00000601207,;ASPDH,upstream_gene_variant,,ENST00000597030,;ASPDH,upstream_gene_variant,,ENST00000593569,;ASPDH,upstream_gene_variant,,ENST00000601287,; A ENSG00000131409 ENST00000652263 Transcript missense_variant 2116/3348 1589/2142 530/713 A/V gCg/gTg COSV65350543 1 NA -1 LRRC4B HGNC HGNC:25042 protein_coding YES CCDS42595.1 ENSP00000498662 Q9NT99.150 A0A024R4I8.56 UPI00000497E7 NM_001080457.2 tolerated_low_confidence(0.61) benign(0.003) 3/3 PANTHER:PTHR24369,PANTHER:PTHR24369:SF8,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA 1 NA NA NA NA MODERATE NA SNV NA NA 1 NA NA . CGC . 6030.6 NA NA NA NA NA NA NA NA NA 50518124 SHANK1 50944 . GRCh38 chr19 50667732 50667732 + Frame_Shift_Del DEL C C - rs1409577759 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4252del p.Ala1418ProfsTer64 p.A1418Pfs*64 ENST00000391814 24/25 NA NA NA NA NA NA SHANK1,frameshift_variant,p.Ala1410ProfsTer64,ENST00000293441,NM_016148.5;SHANK1,frameshift_variant,p.Ala1418ProfsTer64,ENST00000391814,;SHANK1,frameshift_variant,p.Ala1401ProfsTer64,ENST00000359082,;SHANK1,upstream_gene_variant,,ENST00000483981,;SHANK1,non_coding_transcript_exon_variant,,ENST00000391813,;SHANK1,upstream_gene_variant,,ENST00000468654,;,regulatory_region_variant,,ENSR00001025882,; - ENSG00000161681 ENST00000391814 Transcript frameshift_variant 4340/6622 4252/6510 1418/2169 A/X Gcc/cc rs1409577759 1 NA -1 SHANK1 HGNC HGNC:15474 protein_coding YES ENSP00000375690 H9KV90.66 UPI0000E5A22E 24/25 PANTHER:PTHR24135,PANTHER:PTHR24135:SF3,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 5 NA NA 1 . GGCC . 1028.6 NA NA NA NA NA NA NA NA NA 50667731 VSIG10L 147645 . GRCh38 chr19 51341944 51341946 + In_Frame_Del DEL GAG GAG - rs949827065 NA HCI-EC-23 NORMAL GAG GAG NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.102_104del p.Ser35del p.S35del ENST00000335624 2/10 NA NA NA NA NA NA VSIG10L,inframe_deletion,p.Ser35del,ENST00000335624,NM_001163922.2;ETFB,downstream_gene_variant,,ENST00000309244,NM_001985.3;ETFB,downstream_gene_variant,,ENST00000354232,NM_001014763.1;ETFB,downstream_gene_variant,,ENST00000596253,;AC008750.2,non_coding_transcript_exon_variant,,ENST00000601148,;AC008750.2,non_coding_transcript_exon_variant,,ENST00000594311,;AC008750.3,upstream_gene_variant,,ENST00000600974,;VSIG10L,upstream_gene_variant,,ENST00000600663,;ETFB,downstream_gene_variant,,ENST00000594361,; - ENSG00000186806 ENST00000335624 Transcript inframe_deletion 102-104/3397 102-104/2604 34-35/867 SS/S tcCTCt/tct rs949827065 1 NA -1 VSIG10L HGNC HGNC:27111 protein_coding YES CCDS54300.1 ENSP00000335623 Q86VR7.111 UPI00001D8188 NM_001163922.2 2/10 Low_complexity_(Seg):seg,PANTHER:PTHR42757:SF29,PANTHER:PTHR42757 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE NA deletion 5 NA NA NA . CAGAGG . 3694.6 2.596e-05 NA 0.0001621 NA NA NA NA NA NA 51341943 PPP2R1A 5518 . GRCh38 chr19 52201957 52201957 + Missense_Mutation SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.92G>A p.Ser31Asn p.S31N ENST00000322088 2/15 NA NA NA NA NA NA PPP2R1A,missense_variant,p.Ser31Asn,ENST00000322088,NM_014225.6;PPP2R1A,missense_variant,p.Ser71Asn,ENST00000454220,;PPP2R1A,5_prime_UTR_variant,,ENST00000462990,NM_001363656.2;PPP2R1A,downstream_gene_variant,,ENST00000628959,;PPP2R1A,non_coding_transcript_exon_variant,,ENST00000473455,;PPP2R1A,non_coding_transcript_exon_variant,,ENST00000495876,;PPP2R1A,3_prime_UTR_variant,,ENST00000490868,;PPP2R1A,non_coding_transcript_exon_variant,,ENST00000468280,; A ENSG00000105568 ENST00000322088 Transcript missense_variant 137/5352 92/1770 31/589 S/N aGc/aAc 1 NA 1 PPP2R1A HGNC HGNC:9302 protein_coding YES CCDS12849.1 ENSP00000324804 P30153.210 A8K7B7.111 UPI000006EB9C NM_014225.6 deleterious(0) benign(0.342) 2/15 PDB-ENSP_mappings:1b3u.A,PDB-ENSP_mappings:1b3u.B,PDB-ENSP_mappings:2ie3.A,PDB-ENSP_mappings:2ie4.A,PDB-ENSP_mappings:2npp.A,PDB-ENSP_mappings:2npp.D,PDB-ENSP_mappings:2nyl.A,PDB-ENSP_mappings:2nyl.D,PDB-ENSP_mappings:2nym.A,PDB-ENSP_mappings:2nym.D,PDB-ENSP_mappings:2pkg.A,PDB-ENSP_mappings:2pkg.B,PDB-ENSP_mappings:3dw8.A,PDB-ENSP_mappings:3dw8.D,PDB-ENSP_mappings:3k7v.A,PDB-ENSP_mappings:3k7w.A,PDB-ENSP_mappings:4i5l.A,PDB-ENSP_mappings:4i5l.D,PDB-ENSP_mappings:4i5n.A,PDB-ENSP_mappings:4i5n.D,PDB-ENSP_mappings:5w0w.A,PDB-ENSP_mappings:5w0w.D,PDB-ENSP_mappings:5w0w.G,PDB-ENSP_mappings:5w0w.J,PDB-ENSP_mappings:6iur.A,PDB-ENSP_mappings:6iur.B,PDB-ENSP_mappings:6iur.E,PDB-ENSP_mappings:6iur.F,PDB-ENSP_mappings:6nts.A,PROSITE_profiles:PS50077,PANTHER:PTHR10648,PANTHER:PTHR10648:SF2,Gene3D:1.25.10.10,Superfamily:SSF48371 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . AGC . 1956.6 NA NA NA NA NA NA NA NA NA 52201957 PRKCG 5582 . GRCh38 chr19 53882543 53882543 + Missense_Mutation SNP C C T rs1286597703 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.49C>T p.Pro17Ser p.P17S ENST00000263431 1/18 NA NA NA NA NA NA PRKCG,missense_variant,p.Pro17Ser,ENST00000263431,NM_002739.5,NM_001316329.2;PRKCG,intron_variant,,ENST00000419486,;PRKCG,intron_variant,,ENST00000474397,;PRKCG,intron_variant,,ENST00000479081,;,regulatory_region_variant,,ENSR00000111416,;,regulatory_region_variant,,ENSR00000593554,; T ENSG00000126583 ENST00000263431 Transcript missense_variant 347/3149 49/2094 17/697 P/S Ccc/Tcc rs1286597703 1 NA 1 PRKCG HGNC HGNC:9402 protein_coding YES CCDS12867.1 ENSP00000263431 P05129.221 UPI000000DC69 NM_002739.5,NM_001316329.2 tolerated(0.27) benign(0.05) 1/18 PIRSF:PIRSF000550,PANTHER:PTHR24356,PANTHER:PTHR24356:SF162 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . GCC . 5523.6 3.984e-06 NA NA NA NA NA 8.818e-06 NA NA 53882543 PRPF31 26121 . GRCh38 chr19 54124581 54124581 + Silent SNP G G T novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.780G>T p.Ser260= p.S260= ENST00000321030 8/14 NA NA NA NA NA NA PRPF31,synonymous_variant,p.Ser260=,ENST00000419967,;PRPF31,synonymous_variant,p.Ser260=,ENST00000321030,NM_015629.4;PRPF31,synonymous_variant,p.Ser260=,ENST00000391755,;PRPF31,synonymous_variant,p.Ser260=,ENST00000445811,;PRPF31,synonymous_variant,p.Ser260=,ENST00000445124,;PRPF31,synonymous_variant,p.Ser260=,ENST00000447810,;AC245052.4,non_coding_transcript_exon_variant,,ENST00000452097,;PRPF31,non_coding_transcript_exon_variant,,ENST00000498612,;PRPF31,non_coding_transcript_exon_variant,,ENST00000466404,; T ENSG00000105618 ENST00000321030 Transcript synonymous_variant 832/1833 780/1500 260/499 S tcG/tcT 1 NA 1 PRPF31 HGNC HGNC:15446 protein_coding YES CCDS12879.1 ENSP00000324122 Q8WWY3.166 UPI000013D407 NM_015629.4 8/14 PDB-ENSP_mappings:2ozb.B,PDB-ENSP_mappings:2ozb.E,PDB-ENSP_mappings:3jcr.J,PDB-ENSP_mappings:3siu.B,PDB-ENSP_mappings:3siu.E,PDB-ENSP_mappings:3siv.B,PDB-ENSP_mappings:3siv.E,PDB-ENSP_mappings:3siv.H,PDB-ENSP_mappings:3siv.K,PDB-ENSP_mappings:5o9z.H,PDB-ENSP_mappings:6ah0.L,PDB-ENSP_mappings:6ahd.L,PDB-ENSP_mappings:6qw6.4C,PDB-ENSP_mappings:6qx9.4C,PROSITE_profiles:PS51358,PANTHER:PTHR13904,PANTHER:PTHR13904:SF0,Pfam:PF01798,Gene3D:1.10.246.90,Superfamily:SSF89124 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . CGG . 2529.6 NA NA NA NA NA NA NA NA NA 54124581 LILRB3 11025 . GRCh38 chr19 54220587 54220587 + Missense_Mutation SNP C C T rs1052995 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1199G>A p.Arg400His p.R400H ENST00000346401 6/14 NA NA NA NA NA NA LILRB3,missense_variant,p.Arg400His,ENST00000391750,NM_006864.4,NM_001320960.2;LILRB3,missense_variant,p.Arg400His,ENST00000346401,;LILRB3,missense_variant,p.Arg400His,ENST00000245620,NM_001081450.3;LILRB3,downstream_gene_variant,,ENST00000445347,;AC245052.7,upstream_gene_variant,,ENST00000601161,;LILRB3,non_coding_transcript_exon_variant,,ENST00000469273,;LILRB3,3_prime_UTR_variant,,ENST00000414379,;RPS9,intron_variant,,ENST00000448962,;LILRB3,upstream_gene_variant,,ENST00000436504,;LILRB3,upstream_gene_variant,,ENST00000460208,;LILRB3,downstream_gene_variant,,ENST00000468668,; T ENSG00000204577 ENST00000346401 Transcript missense_variant 1262/2204 1199/1932 400/643 R/H cGc/cAc rs1052995 1 NA -1 LILRB3 HGNC HGNC:6607 protein_coding YES ENSP00000345184 F8W6G6.56 UPI00034F2399 tolerated(0.59) benign(0.006) 6/14 Superfamily:SSF48726,SMART:SM00409,SMART:SM00408,Gene3D:2.60.40.10,Pfam:PF00047,PANTHER:PTHR11738:SF160,PANTHER:PTHR11738 NA 0.5907 0.742 NA 0.9524 0.7117 0.5644 NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . GCG . 8323.6 NA NA NA NA NA NA NA NA NA 54220587 LILRB3 11025 . GRCh38 chr19 54220588 54220588 + Missense_Mutation SNP G G A rs1052993 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1198C>T p.Arg400Cys p.R400C ENST00000346401 6/14 NA NA NA NA NA NA LILRB3,missense_variant,p.Arg400Cys,ENST00000391750,NM_006864.4,NM_001320960.2;LILRB3,missense_variant,p.Arg400Cys,ENST00000346401,;LILRB3,missense_variant,p.Arg400Cys,ENST00000245620,NM_001081450.3;LILRB3,downstream_gene_variant,,ENST00000445347,;AC245052.7,upstream_gene_variant,,ENST00000601161,;LILRB3,non_coding_transcript_exon_variant,,ENST00000469273,;LILRB3,3_prime_UTR_variant,,ENST00000414379,;RPS9,intron_variant,,ENST00000448962,;LILRB3,upstream_gene_variant,,ENST00000436504,;LILRB3,upstream_gene_variant,,ENST00000460208,;LILRB3,downstream_gene_variant,,ENST00000468668,; A ENSG00000204577 ENST00000346401 Transcript missense_variant 1261/2204 1198/1932 400/643 R/C Cgc/Tgc rs1052993 1 NA -1 LILRB3 HGNC HGNC:6607 protein_coding YES ENSP00000345184 F8W6G6.56 UPI00034F2399 tolerated(0.17) possibly_damaging(0.794) 6/14 Superfamily:SSF48726,SMART:SM00409,SMART:SM00408,Gene3D:2.60.40.10,Pfam:PF00047,PANTHER:PTHR11738:SF160,PANTHER:PTHR11738 NA 0.5666 0.7349 NA 0.9544 0.7147 0.6196 NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . CGT . 8323.6 NA NA NA NA NA NA NA NA NA 54220588 LILRB3 11025 . GRCh38 chr19 54220739 54220739 + Silent SNP C C A rs1361275427 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1047G>T p.Gly349= p.G349= ENST00000346401 6/14 NA NA NA NA NA NA LILRB3,synonymous_variant,p.Gly349=,ENST00000391750,NM_006864.4,NM_001320960.2;LILRB3,synonymous_variant,p.Gly349=,ENST00000346401,;LILRB3,synonymous_variant,p.Gly349=,ENST00000245620,NM_001081450.3;LILRB3,downstream_gene_variant,,ENST00000445347,;AC245052.7,upstream_gene_variant,,ENST00000601161,;LILRB3,non_coding_transcript_exon_variant,,ENST00000469273,;LILRB3,3_prime_UTR_variant,,ENST00000414379,;RPS9,intron_variant,,ENST00000448962,;LILRB3,upstream_gene_variant,,ENST00000436504,;LILRB3,upstream_gene_variant,,ENST00000460208,;LILRB3,downstream_gene_variant,,ENST00000468668,; A ENSG00000204577 ENST00000346401 Transcript synonymous_variant 1110/2204 1047/1932 349/643 G ggG/ggT rs1361275427 1 NA -1 LILRB3 HGNC HGNC:6607 protein_coding YES ENSP00000345184 F8W6G6.56 UPI00034F2399 6/14 Superfamily:SSF48726,SMART:SM00409,SMART:SM00408,Gene3D:2.60.40.10,Pfam:PF00047,PANTHER:PTHR11738:SF160,PANTHER:PTHR11738 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . ACC . 23241.6 NA NA NA NA NA NA NA NA NA 54220739 LILRB3 11025 . GRCh38 chr19 54221229 54221229 + Missense_Mutation SNP T T C rs1344882806 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.809A>G p.Gln270Arg p.Q270R ENST00000346401 5/14 NA NA NA NA NA NA LILRB3,missense_variant,p.Gln270Arg,ENST00000391750,NM_006864.4,NM_001320960.2;LILRB3,missense_variant,p.Gln270Arg,ENST00000346401,;LILRB3,missense_variant,p.Gln270Arg,ENST00000245620,NM_001081450.3;LILRB3,downstream_gene_variant,,ENST00000445347,;AC245052.7,upstream_gene_variant,,ENST00000601161,;LILRB3,upstream_gene_variant,,ENST00000469273,;LILRB3,3_prime_UTR_variant,,ENST00000414379,;RPS9,intron_variant,,ENST00000448962,;LILRB3,upstream_gene_variant,,ENST00000436504,;LILRB3,upstream_gene_variant,,ENST00000460208,;LILRB3,downstream_gene_variant,,ENST00000468668,; C ENSG00000204577 ENST00000346401 Transcript missense_variant 872/2204 809/1932 270/643 Q/R cAg/cGg rs1344882806 1 NA -1 LILRB3 HGNC HGNC:6607 protein_coding YES ENSP00000345184 F8W6G6.56 UPI00034F2399 tolerated(1) benign(0.006) 5/14 Superfamily:SSF48726,SMART:SM00409,SMART:SM00408,Gene3D:2.60.40.10,PANTHER:PTHR11738:SF160,PANTHER:PTHR11738 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . CTG . 518.6 NA NA NA NA NA NA NA NA NA 54221229 LILRB3 11025 . GRCh38 chr19 54221256 54221256 + Missense_Mutation SNP T T C rs1292929626 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.782A>G p.Glu261Gly p.E261G ENST00000346401 5/14 NA NA NA NA NA NA LILRB3,missense_variant,p.Glu261Gly,ENST00000391750,NM_006864.4,NM_001320960.2;LILRB3,missense_variant,p.Glu261Gly,ENST00000346401,;LILRB3,missense_variant,p.Glu261Gly,ENST00000245620,NM_001081450.3;LILRB3,downstream_gene_variant,,ENST00000445347,;AC245052.7,upstream_gene_variant,,ENST00000601161,;LILRB3,upstream_gene_variant,,ENST00000469273,;LILRB3,3_prime_UTR_variant,,ENST00000414379,;RPS9,intron_variant,,ENST00000448962,;LILRB3,upstream_gene_variant,,ENST00000436504,;LILRB3,upstream_gene_variant,,ENST00000460208,;LILRB3,downstream_gene_variant,,ENST00000468668,; C ENSG00000204577 ENST00000346401 Transcript missense_variant 845/2204 782/1932 261/643 E/G gAa/gGa rs1292929626 1 NA -1 LILRB3 HGNC HGNC:6607 protein_coding YES ENSP00000345184 F8W6G6.56 UPI00034F2399 tolerated(1) benign(0.015) 5/14 Superfamily:SSF48726,SMART:SM00409,SMART:SM00408,Gene3D:2.60.40.10,PANTHER:PTHR11738:SF160,PANTHER:PTHR11738 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . TTC . 1063.6 NA NA NA NA NA NA NA NA NA 54221256 LILRB3 11025 . GRCh38 chr19 54221260 54221260 + Missense_Mutation SNP C C A rs1362035211 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.778G>T p.Gly260Trp p.G260W ENST00000346401 5/14 NA NA NA NA NA NA LILRB3,missense_variant,p.Gly260Trp,ENST00000391750,NM_006864.4,NM_001320960.2;LILRB3,missense_variant,p.Gly260Trp,ENST00000346401,;LILRB3,missense_variant,p.Gly260Trp,ENST00000245620,NM_001081450.3;LILRB3,downstream_gene_variant,,ENST00000445347,;AC245052.7,upstream_gene_variant,,ENST00000601161,;LILRB3,upstream_gene_variant,,ENST00000469273,;LILRB3,3_prime_UTR_variant,,ENST00000414379,;RPS9,intron_variant,,ENST00000448962,;LILRB3,upstream_gene_variant,,ENST00000436504,;LILRB3,upstream_gene_variant,,ENST00000460208,;LILRB3,downstream_gene_variant,,ENST00000468668,; A ENSG00000204577 ENST00000346401 Transcript missense_variant 841/2204 778/1932 260/643 G/W Ggg/Tgg rs1362035211 1 NA -1 LILRB3 HGNC HGNC:6607 protein_coding YES ENSP00000345184 F8W6G6.56 UPI00034F2399 tolerated(0.07) benign(0.189) 5/14 Superfamily:SSF48726,SMART:SM00409,SMART:SM00408,Gene3D:2.60.40.10,PANTHER:PTHR11738:SF160,PANTHER:PTHR11738 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . CCC . 1063.6 NA NA NA NA NA NA NA NA NA 54221260 LILRB3 11025 . GRCh38 chr19 54221292 54221292 + Missense_Mutation SNP A A G rs763981538 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.746T>C p.Val249Ala p.V249A ENST00000346401 5/14 NA NA NA NA NA NA LILRB3,missense_variant,p.Val249Ala,ENST00000391750,NM_006864.4,NM_001320960.2;LILRB3,missense_variant,p.Val249Ala,ENST00000346401,;LILRB3,missense_variant,p.Val249Ala,ENST00000245620,NM_001081450.3;LILRB3,downstream_gene_variant,,ENST00000445347,;AC245052.7,upstream_gene_variant,,ENST00000601161,;LILRB3,upstream_gene_variant,,ENST00000469273,;LILRB3,3_prime_UTR_variant,,ENST00000414379,;RPS9,intron_variant,,ENST00000448962,;LILRB3,upstream_gene_variant,,ENST00000436504,;LILRB3,upstream_gene_variant,,ENST00000460208,;LILRB3,downstream_gene_variant,,ENST00000468668,; G ENSG00000204577 ENST00000346401 Transcript missense_variant 809/2204 746/1932 249/643 V/A gTc/gCc rs763981538 1 NA -1 LILRB3 HGNC HGNC:6607 protein_coding YES ENSP00000345184 F8W6G6.56 UPI00034F2399 tolerated(0.13) benign(0.031) 5/14 Superfamily:SSF48726,SMART:SM00409,SMART:SM00408,Gene3D:2.60.40.10,PANTHER:PTHR11738:SF160,PANTHER:PTHR11738 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . GAC . 442.6 NA NA NA NA NA NA NA NA NA 54221292 LILRB3 11025 . GRCh38 chr19 54222283 54222283 + Missense_Mutation SNP A A G rs749291228 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.350T>C p.Met117Thr p.M117T ENST00000346401 3/14 NA NA NA NA NA NA LILRB3,missense_variant,p.Met117Thr,ENST00000391750,NM_006864.4,NM_001320960.2;LILRB3,missense_variant,p.Met117Thr,ENST00000346401,;LILRB3,missense_variant,p.Met117Thr,ENST00000245620,NM_001081450.3;LILRB3,missense_variant,p.Met117Thr,ENST00000445347,;AC245052.7,upstream_gene_variant,,ENST00000601161,;LILRB3,upstream_gene_variant,,ENST00000469273,;LILRB3,missense_variant,p.Met117Thr,ENST00000414379,;LILRB3,non_coding_transcript_exon_variant,,ENST00000468668,;RPS9,intron_variant,,ENST00000448962,;LILRB3,upstream_gene_variant,,ENST00000436504,;LILRB3,upstream_gene_variant,,ENST00000460208,;,regulatory_region_variant,,ENSR00000593644,; G ENSG00000204577 ENST00000346401 Transcript missense_variant 413/2204 350/1932 117/643 M/T aTg/aCg rs749291228,COSV54431815 1 NA -1 LILRB3 HGNC HGNC:6607 protein_coding YES ENSP00000345184 F8W6G6.56 UPI00034F2399 deleterious(0) benign(0.036) 3/14 Superfamily:SSF48726,SMART:SM00409,Gene3D:2.60.40.10,PANTHER:PTHR11738:SF160,PANTHER:PTHR11738,CDD:cd05751 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 5 NA 0,1 NA NA . CAT . 14845.6 2.477e-05 NA 4.617e-05 NA 6.708e-05 NA 2.089e-05 NA NA 54222283 LILRB3 11025 . GRCh38 chr19 54222427 54222427 + Missense_Mutation SNP C C A rs80077296 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.206G>T p.Trp69Leu p.W69L ENST00000346401 3/14 NA NA NA NA NA NA LILRB3,missense_variant,p.Trp69Leu,ENST00000391750,NM_006864.4,NM_001320960.2;LILRB3,missense_variant,p.Trp69Leu,ENST00000346401,;LILRB3,missense_variant,p.Trp69Leu,ENST00000245620,NM_001081450.3;LILRB3,missense_variant,p.Trp69Leu,ENST00000445347,;AC245052.7,upstream_gene_variant,,ENST00000601161,;LILRB3,upstream_gene_variant,,ENST00000469273,;LILRB3,missense_variant,p.Trp69Leu,ENST00000414379,;LILRB3,non_coding_transcript_exon_variant,,ENST00000468668,;RPS9,intron_variant,,ENST00000448962,;LILRB3,upstream_gene_variant,,ENST00000436504,;LILRB3,upstream_gene_variant,,ENST00000460208,;,regulatory_region_variant,,ENSR00000593644,; A ENSG00000204577 ENST00000346401 Transcript missense_variant 269/2204 206/1932 69/643 W/L tGg/tTg rs80077296 1 NA -1 LILRB3 HGNC HGNC:6607 protein_coding YES ENSP00000345184 F8W6G6.56 UPI00034F2399 tolerated(0.08) benign(0.044) 3/14 Superfamily:SSF48726,SMART:SM00409,SMART:SM00408,Gene3D:2.60.40.10,Pfam:PF13895,PANTHER:PTHR11738:SF160,PANTHER:PTHR11738,CDD:cd05751,PROSITE_profiles:PS50835 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . CCA . 28806.6 NA NA NA NA NA NA NA NA NA 54222427 LILRA6 0 . GRCh38 chr19 54240482 54240482 + Missense_Mutation SNP C C A rs1052992 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1050G>T p.Gln350His p.Q350H ENST00000396365 6/8 NA NA NA NA NA NA LILRA6,missense_variant,p.Gln350His,ENST00000396365,NM_024318.4;LILRA6,missense_variant,p.Gln350His,ENST00000245621,;LILRA6,3_prime_UTR_variant,,ENST00000430421,;RPS9,intron_variant,,ENST00000448962,;LILRA6,downstream_gene_variant,,ENST00000270464,; A ENSG00000244482 ENST00000396365 Transcript missense_variant 1090/1890 1050/1446 350/481 Q/H caG/caT rs1052992 1 NA -1 LILRA6 HGNC HGNC:15495 protein_coding YES CCDS42610.1 ENSP00000379651 Q6PI73.124 U5XH19.43 UPI000292EF7A NM_024318.4 tolerated(0.48) possibly_damaging(0.753) 6/8 PANTHER:PTHR11738:SF160,PANTHER:PTHR11738,Pfam:PF00047,Gene3D:2.60.40.10,PIRSF:PIRSF001979,SMART:SM00408,SMART:SM00409,Superfamily:SSF48726 NA 0.9251 0.9697 NA 0.7837 0.9761 0.9806 NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . ACT . 2064.6 4.156e-06 NA NA NA NA NA 9.111e-06 NA NA 54240482 LILRA6 0 . GRCh38 chr19 54240484 54240484 + Nonsense_Mutation SNP G G A rs2361802 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1048C>T p.Gln350Ter p.Q350* ENST00000396365 6/8 NA NA NA NA NA NA LILRA6,stop_gained,p.Gln350Ter,ENST00000396365,NM_024318.4;LILRA6,stop_gained,p.Gln350Ter,ENST00000245621,;LILRA6,3_prime_UTR_variant,,ENST00000430421,;RPS9,intron_variant,,ENST00000448962,;LILRA6,downstream_gene_variant,,ENST00000270464,; A ENSG00000244482 ENST00000396365 Transcript stop_gained 1088/1890 1048/1446 350/481 Q/* Cag/Tag rs2361802 1 NA -1 LILRA6 HGNC HGNC:15495 protein_coding YES CCDS42610.1 ENSP00000379651 Q6PI73.124 U5XH19.43 UPI000292EF7A NM_024318.4 6/8 PANTHER:PTHR11738:SF160,PANTHER:PTHR11738,Pfam:PF00047,Gene3D:2.60.40.10,PIRSF:PIRSF001979,SMART:SM00408,SMART:SM00409,Superfamily:SSF48726 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 SNV 1 NA NA NA . TGC . 2208.6 NA NA NA NA NA NA NA NA NA 54240484 LILRA6 0 . GRCh38 chr19 54240485 54240485 + Missense_Mutation SNP C C A rs2361801 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1047G>T p.Trp349Cys p.W349C ENST00000396365 6/8 NA NA NA NA NA NA LILRA6,missense_variant,p.Trp349Cys,ENST00000396365,NM_024318.4;LILRA6,missense_variant,p.Trp349Cys,ENST00000245621,;LILRA6,3_prime_UTR_variant,,ENST00000430421,;RPS9,intron_variant,,ENST00000448962,;LILRA6,downstream_gene_variant,,ENST00000270464,; A ENSG00000244482 ENST00000396365 Transcript missense_variant 1087/1890 1047/1446 349/481 W/C tgG/tgT rs2361801 1 NA -1 LILRA6 HGNC HGNC:15495 protein_coding YES CCDS42610.1 ENSP00000379651 Q6PI73.124 U5XH19.43 UPI000292EF7A NM_024318.4 tolerated(0.16) possibly_damaging(0.493) 6/8 PANTHER:PTHR11738:SF160,PANTHER:PTHR11738,Pfam:PF00047,Gene3D:2.60.40.10,PIRSF:PIRSF001979,SMART:SM00408,SMART:SM00409,Superfamily:SSF48726 NA 0.6566 0.6182 NA 0.5486 0.6143 0.5736 NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . GCC . 2236.6 NA NA NA NA NA NA NA NA NA 54240485 LILRA6 0 . GRCh38 chr19 54240487 54240487 + Missense_Mutation SNP A A C rs2361800 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1045T>G p.Trp349Gly p.W349G ENST00000396365 6/8 NA NA NA NA NA NA LILRA6,missense_variant,p.Trp349Gly,ENST00000396365,NM_024318.4;LILRA6,missense_variant,p.Trp349Gly,ENST00000245621,;LILRA6,3_prime_UTR_variant,,ENST00000430421,;RPS9,intron_variant,,ENST00000448962,;LILRA6,downstream_gene_variant,,ENST00000270464,; C ENSG00000244482 ENST00000396365 Transcript missense_variant 1085/1890 1045/1446 349/481 W/G Tgg/Ggg rs2361800 1 NA -1 LILRA6 HGNC HGNC:15495 protein_coding YES CCDS42610.1 ENSP00000379651 Q6PI73.124 U5XH19.43 UPI000292EF7A NM_024318.4 tolerated(0.44) benign(0) 6/8 PANTHER:PTHR11738:SF160,PANTHER:PTHR11738,Pfam:PF00047,Gene3D:2.60.40.10,PIRSF:PIRSF001979,SMART:SM00408,SMART:SM00409,Superfamily:SSF48726 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CAC . 2111.6 NA NA NA NA NA NA NA NA NA 54240487 LILRA6 0 . GRCh38 chr19 54241806 54241806 + Missense_Mutation SNP T T C rs111666280 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.428A>G p.Gln143Arg p.Q143R ENST00000396365 4/8 NA NA NA NA NA NA LILRA6,missense_variant,p.Gln143Arg,ENST00000396365,NM_024318.4;LILRA6,missense_variant,p.Gln143Arg,ENST00000245621,;LILRA6,missense_variant,p.Gln143Arg,ENST00000430421,;LILRA6,non_coding_transcript_exon_variant,,ENST00000270464,;RPS9,intron_variant,,ENST00000448962,;,regulatory_region_variant,,ENSR00000593649,;AC245052.6,downstream_gene_variant,,ENST00000506567,; C ENSG00000244482 ENST00000396365 Transcript missense_variant 468/1890 428/1446 143/481 Q/R cAa/cGa rs111666280 1 NA -1 LILRA6 HGNC HGNC:15495 protein_coding YES CCDS42610.1 ENSP00000379651 Q6PI73.124 U5XH19.43 UPI000292EF7A NM_024318.4 tolerated(0.13) benign(0.001) 4/8 PANTHER:PTHR11738:SF160,PANTHER:PTHR11738,PIRSF:PIRSF001979,Gene3D:2.60.40.10,Superfamily:SSF48726 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . TTG . 1936.03 NA NA NA NA NA NA NA NA NA 54241806 LILRA6 0 . GRCh38 chr19 54241871 54241871 + Silent SNP A A G rs879067767 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.363T>C p.Tyr121= p.Y121= ENST00000396365 4/8 NA NA NA NA NA NA LILRA6,synonymous_variant,p.Tyr121=,ENST00000396365,NM_024318.4;LILRA6,synonymous_variant,p.Tyr121=,ENST00000245621,;LILRA6,synonymous_variant,p.Tyr121=,ENST00000430421,;LILRA6,non_coding_transcript_exon_variant,,ENST00000270464,;RPS9,intron_variant,,ENST00000448962,;,regulatory_region_variant,,ENSR00000593649,;AC245052.6,downstream_gene_variant,,ENST00000506567,; G ENSG00000244482 ENST00000396365 Transcript synonymous_variant 403/1890 363/1446 121/481 Y taT/taC rs879067767 1 NA -1 LILRA6 HGNC HGNC:15495 protein_coding YES CCDS42610.1 ENSP00000379651 Q6PI73.124 U5XH19.43 UPI000292EF7A NM_024318.4 4/8 PANTHER:PTHR11738:SF160,PANTHER:PTHR11738,PIRSF:PIRSF001979,Gene3D:2.60.40.10,Superfamily:SSF48726 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . TAT . 267.98 NA NA NA NA NA NA NA NA NA 54241871 LILRA6 0 . GRCh38 chr19 54242175 54242175 + Missense_Mutation SNP C C A rs620207 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.206G>T p.Trp69Leu p.W69L ENST00000396365 3/8 NA NA NA NA NA NA LILRA6,missense_variant,p.Trp69Leu,ENST00000396365,NM_024318.4;LILRA6,missense_variant,p.Trp69Leu,ENST00000245621,;LILRA6,missense_variant,p.Trp69Leu,ENST00000430421,;LILRA6,non_coding_transcript_exon_variant,,ENST00000270464,;RPS9,intron_variant,,ENST00000448962,;,regulatory_region_variant,,ENSR00000593649,;AC245052.6,downstream_gene_variant,,ENST00000506567,; A ENSG00000244482 ENST00000396365 Transcript missense_variant 246/1890 206/1446 69/481 W/L tGg/tTg rs620207 1 NA -1 LILRA6 HGNC HGNC:15495 protein_coding YES CCDS42610.1 ENSP00000379651 Q6PI73.124 U5XH19.43 UPI000292EF7A NM_024318.4 tolerated(0.11) benign(0.007) 3/8 CDD:cd05751,PANTHER:PTHR11738:SF160,PANTHER:PTHR11738,Pfam:PF13895,PIRSF:PIRSF001979,Gene3D:2.60.40.10,SMART:SM00408,SMART:SM00409,Superfamily:SSF48726 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CCA . 8721.03 NA NA NA NA NA NA NA NA NA 54242175 LILRB2 10288 . GRCh38 chr19 54278529 54278529 + Missense_Mutation SNP T T C rs575361861 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.989A>G p.Gln330Arg p.Q330R ENST00000391749 7/14 NA NA NA NA NA NA LILRB2,missense_variant,p.Gln330Arg,ENST00000314446,NM_001080978.4;LILRB2,missense_variant,p.Gln330Arg,ENST00000391748,NM_001278403.2;LILRB2,missense_variant,p.Gln214Arg,ENST00000434421,NM_001278404.2;LILRB2,missense_variant,p.Gln330Arg,ENST00000391749,NM_005874.5;LILRB2,missense_variant,p.Gln330Arg,ENST00000391746,NM_001278405.2,NM_001278406.2;MIR4752,upstream_gene_variant,,ENST00000579672,;LILRB2,downstream_gene_variant,,ENST00000471216,;LILRB2,missense_variant,p.Gln6Arg,ENST00000455108,;LILRB2,non_coding_transcript_exon_variant,,ENST00000493242,; C ENSG00000131042 ENST00000391749 Transcript missense_variant 1261/2286 989/1797 330/598 Q/R cAg/cGg rs575361861 1 NA -1 LILRB2 HGNC HGNC:6606 protein_coding YES CCDS12886.1 ENSP00000375629 Q8N423.169 UPI00034F23A2 NM_005874.5 tolerated(0.19) benign(0.023) 7/14 PANTHER:PTHR11738:SF170,PANTHER:PTHR11738,Gene3D:2.60.40.10,SMART:SM00409,Superfamily:SSF48726 2e-04 NA NA NA 0.001 NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CTG . 2698.6 4e-06 NA NA NA 5.437e-05 NA NA NA NA 54278529 LILRB2 10288 . GRCh38 chr19 54278534 54278534 + Silent SNP T T G rs28405793 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.984A>C p.Ser328= p.S328= ENST00000391749 7/14 NA NA NA NA NA NA LILRB2,synonymous_variant,p.Ser328=,ENST00000314446,NM_001080978.4;LILRB2,synonymous_variant,p.Ser328=,ENST00000391748,NM_001278403.2;LILRB2,synonymous_variant,p.Ser212=,ENST00000434421,NM_001278404.2;LILRB2,synonymous_variant,p.Ser328=,ENST00000391749,NM_005874.5;LILRB2,synonymous_variant,p.Ser328=,ENST00000391746,NM_001278405.2,NM_001278406.2;MIR4752,upstream_gene_variant,,ENST00000579672,;LILRB2,downstream_gene_variant,,ENST00000471216,;LILRB2,synonymous_variant,p.Ser4=,ENST00000455108,;LILRB2,non_coding_transcript_exon_variant,,ENST00000493242,; G ENSG00000131042 ENST00000391749 Transcript synonymous_variant 1256/2286 984/1797 328/598 S tcA/tcC rs28405793 1 NA -1 LILRB2 HGNC HGNC:6606 protein_coding YES CCDS12886.1 ENSP00000375629 Q8N423.169 UPI00034F23A2 NM_005874.5 7/14 PANTHER:PTHR11738:SF170,PANTHER:PTHR11738,Gene3D:2.60.40.10,Superfamily:SSF48726 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . CTG . 2764.6 NA NA NA NA NA NA NA NA NA 54278534 LILRB2 10288 . GRCh38 chr19 54278550 54278550 + Missense_Mutation SNP C C G rs971610407 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.968G>C p.Gly323Ala p.G323A ENST00000391749 7/14 NA NA NA NA NA NA LILRB2,missense_variant,p.Gly323Ala,ENST00000314446,NM_001080978.4;LILRB2,missense_variant,p.Gly323Ala,ENST00000391748,NM_001278403.2;LILRB2,missense_variant,p.Gly207Ala,ENST00000434421,NM_001278404.2;LILRB2,missense_variant,p.Gly323Ala,ENST00000391749,NM_005874.5;LILRB2,missense_variant,p.Gly323Ala,ENST00000391746,NM_001278405.2,NM_001278406.2;MIR4752,upstream_gene_variant,,ENST00000579672,;LILRB2,downstream_gene_variant,,ENST00000471216,;LILRB2,non_coding_transcript_exon_variant,,ENST00000493242,;LILRB2,upstream_gene_variant,,ENST00000455108,; G ENSG00000131042 ENST00000391749 Transcript missense_variant 1240/2286 968/1797 323/598 G/A gGc/gCc rs971610407 1 NA -1 LILRB2 HGNC HGNC:6606 protein_coding YES CCDS12886.1 ENSP00000375629 Q8N423.169 UPI00034F23A2 NM_005874.5 tolerated(0.51) benign(0.003) 7/14 PANTHER:PTHR11738:SF170,PANTHER:PTHR11738,Gene3D:2.60.40.10,Superfamily:SSF48726 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . GCC . 2888.6 NA NA NA NA NA NA NA NA NA 54278550 LILRB2 10288 . GRCh38 chr19 54278883 54278883 + Missense_Mutation SNP C C G rs370505111 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.884G>C p.Arg295Thr p.R295T ENST00000391749 6/14 NA NA NA NA NA NA LILRB2,missense_variant,p.Arg295Thr,ENST00000314446,NM_001080978.4;LILRB2,missense_variant,p.Arg295Thr,ENST00000391748,NM_001278403.2;LILRB2,missense_variant,p.Arg179Thr,ENST00000434421,NM_001278404.2;LILRB2,missense_variant,p.Arg295Thr,ENST00000391749,NM_005874.5;LILRB2,missense_variant,p.Arg295Thr,ENST00000391746,NM_001278405.2,NM_001278406.2;MIR4752,upstream_gene_variant,,ENST00000579672,;LILRB2,downstream_gene_variant,,ENST00000471216,;LILRB2,non_coding_transcript_exon_variant,,ENST00000493242,;LILRB2,upstream_gene_variant,,ENST00000455108,; G ENSG00000131042 ENST00000391749 Transcript missense_variant 1156/2286 884/1797 295/598 R/T aGa/aCa rs370505111 1 NA -1 LILRB2 HGNC HGNC:6606 protein_coding YES CCDS12886.1 ENSP00000375629 Q8N423.169 UPI00034F23A2 NM_005874.5 tolerated(0.09) possibly_damaging(0.875) 6/14 PROSITE_profiles:PS50835,PANTHER:PTHR11738:SF170,PANTHER:PTHR11738,Gene3D:2.60.40.10,SMART:SM00409,SMART:SM00408,Superfamily:SSF48726 NA NA NA NA NA NA NA 0.000227 NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . TCT . 729.6 7.57e-05 0.0002468 0.0001736 NA 0.0001087 4.621e-05 2.646e-05 NA 9.801e-05 54278883 LILRB2 10288 . GRCh38 chr19 54278967 54278967 + Missense_Mutation SNP A A C rs752848913 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.800T>G p.Leu267Arg p.L267R ENST00000391749 6/14 NA NA NA NA NA NA LILRB2,missense_variant,p.Leu267Arg,ENST00000314446,NM_001080978.4;LILRB2,missense_variant,p.Leu267Arg,ENST00000391748,NM_001278403.2;LILRB2,missense_variant,p.Leu151Arg,ENST00000434421,NM_001278404.2;LILRB2,missense_variant,p.Leu267Arg,ENST00000391749,NM_005874.5;LILRB2,missense_variant,p.Leu267Arg,ENST00000391746,NM_001278405.2,NM_001278406.2;MIR4752,upstream_gene_variant,,ENST00000579672,;LILRB2,downstream_gene_variant,,ENST00000471216,;LILRB2,non_coding_transcript_exon_variant,,ENST00000493242,;LILRB2,upstream_gene_variant,,ENST00000455108,; C ENSG00000131042 ENST00000391749 Transcript missense_variant 1072/2286 800/1797 267/598 L/R cTc/cGc rs752848913 1 NA -1 LILRB2 HGNC HGNC:6606 protein_coding YES CCDS12886.1 ENSP00000375629 Q8N423.169 UPI00034F23A2 NM_005874.5 tolerated(1) benign(0.001) 6/14 PROSITE_profiles:PS50835,PANTHER:PTHR11738:SF170,PANTHER:PTHR11738,Gene3D:2.60.40.10,SMART:SM00409,SMART:SM00408,Superfamily:SSF48726 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . GAG . 3034.6 3.58e-05 NA NA NA NA 4.619e-05 1.759e-05 NA 0.000196 54278967 LILRB2 10288 . GRCh38 chr19 54278973 54278973 + Missense_Mutation SNP C C A rs532414442 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.794G>T p.Arg265Leu p.R265L ENST00000391749 6/14 NA NA NA NA NA NA LILRB2,missense_variant,p.Arg265Leu,ENST00000314446,NM_001080978.4;LILRB2,missense_variant,p.Arg265Leu,ENST00000391748,NM_001278403.2;LILRB2,missense_variant,p.Arg149Leu,ENST00000434421,NM_001278404.2;LILRB2,missense_variant,p.Arg265Leu,ENST00000391749,NM_005874.5;LILRB2,missense_variant,p.Arg265Leu,ENST00000391746,NM_001278405.2,NM_001278406.2;MIR4752,upstream_gene_variant,,ENST00000579672,;LILRB2,downstream_gene_variant,,ENST00000471216,;LILRB2,non_coding_transcript_exon_variant,,ENST00000493242,;LILRB2,upstream_gene_variant,,ENST00000455108,; A ENSG00000131042 ENST00000391749 Transcript missense_variant 1066/2286 794/1797 265/598 R/L cGc/cTc rs532414442,COSV58747521 1 NA -1 LILRB2 HGNC HGNC:6606 protein_coding YES CCDS12886.1 ENSP00000375629 Q8N423.169 UPI00034F23A2 NM_005874.5 tolerated(0.65) benign(0) 6/14 PROSITE_profiles:PS50835,PANTHER:PTHR11738:SF170,PANTHER:PTHR11738,Gene3D:2.60.40.10,SMART:SM00409,SMART:SM00408,Superfamily:SSF48726 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 1 NA 0,1 NA NA . GCG . 3285.6 3.977e-06 NA NA NA 5.437e-05 NA NA NA NA 54278973 LILRB2 10288 . GRCh38 chr19 54278975 54278975 + Silent SNP A A G rs200416271 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.792T>C p.Leu264= p.L264= ENST00000391749 6/14 NA NA NA NA NA NA LILRB2,synonymous_variant,p.Leu264=,ENST00000314446,NM_001080978.4;LILRB2,synonymous_variant,p.Leu264=,ENST00000391748,NM_001278403.2;LILRB2,synonymous_variant,p.Leu148=,ENST00000434421,NM_001278404.2;LILRB2,synonymous_variant,p.Leu264=,ENST00000391749,NM_005874.5;LILRB2,synonymous_variant,p.Leu264=,ENST00000391746,NM_001278405.2,NM_001278406.2;MIR4752,upstream_gene_variant,,ENST00000579672,;LILRB2,downstream_gene_variant,,ENST00000471216,;LILRB2,non_coding_transcript_exon_variant,,ENST00000493242,;LILRB2,upstream_gene_variant,,ENST00000455108,; G ENSG00000131042 ENST00000391749 Transcript synonymous_variant 1064/2286 792/1797 264/598 L ctT/ctC rs200416271 1 NA -1 LILRB2 HGNC HGNC:6606 protein_coding YES CCDS12886.1 ENSP00000375629 Q8N423.169 UPI00034F23A2 NM_005874.5 6/14 PROSITE_profiles:PS50835,PANTHER:PTHR11738:SF170,PANTHER:PTHR11738,Gene3D:2.60.40.10,SMART:SM00409,SMART:SM00408,Superfamily:SSF48726 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . GAA . 3576.6 3.977e-06 NA NA NA 5.437e-05 NA NA NA NA 54278975 LILRB2 10288 . GRCh38 chr19 54278977 54278977 + Missense_Mutation SNP G G A rs770318618 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.790C>T p.Leu264Phe p.L264F ENST00000391749 6/14 NA NA NA NA NA NA LILRB2,missense_variant,p.Leu264Phe,ENST00000314446,NM_001080978.4;LILRB2,missense_variant,p.Leu264Phe,ENST00000391748,NM_001278403.2;LILRB2,missense_variant,p.Leu148Phe,ENST00000434421,NM_001278404.2;LILRB2,missense_variant,p.Leu264Phe,ENST00000391749,NM_005874.5;LILRB2,missense_variant,p.Leu264Phe,ENST00000391746,NM_001278405.2,NM_001278406.2;MIR4752,upstream_gene_variant,,ENST00000579672,;LILRB2,downstream_gene_variant,,ENST00000471216,;LILRB2,non_coding_transcript_exon_variant,,ENST00000493242,;LILRB2,upstream_gene_variant,,ENST00000455108,; A ENSG00000131042 ENST00000391749 Transcript missense_variant 1062/2286 790/1797 264/598 L/F Ctt/Ttt rs770318618 1 NA -1 LILRB2 HGNC HGNC:6606 protein_coding YES CCDS12886.1 ENSP00000375629 Q8N423.169 UPI00034F23A2 NM_005874.5 tolerated(0.36) benign(0.022) 6/14 PROSITE_profiles:PS50835,PANTHER:PTHR11738:SF170,PANTHER:PTHR11738,Gene3D:2.60.40.10,SMART:SM00409,SMART:SM00408,Superfamily:SSF48726 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . AGG . 3903.6 3.977e-06 NA NA NA 5.437e-05 NA NA NA NA 54278977 LILRB2 10288 . GRCh38 chr19 54278985 54278985 + Missense_Mutation SNP T T C rs199764261 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.782A>G p.Glu261Gly p.E261G ENST00000391749 6/14 NA NA NA NA NA NA LILRB2,missense_variant,p.Glu261Gly,ENST00000314446,NM_001080978.4;LILRB2,missense_variant,p.Glu261Gly,ENST00000391748,NM_001278403.2;LILRB2,missense_variant,p.Glu145Gly,ENST00000434421,NM_001278404.2;LILRB2,missense_variant,p.Glu261Gly,ENST00000391749,NM_005874.5;LILRB2,missense_variant,p.Glu261Gly,ENST00000391746,NM_001278405.2,NM_001278406.2;MIR4752,upstream_gene_variant,,ENST00000579672,;LILRB2,downstream_gene_variant,,ENST00000471216,;LILRB2,non_coding_transcript_exon_variant,,ENST00000493242,;LILRB2,upstream_gene_variant,,ENST00000455108,; C ENSG00000131042 ENST00000391749 Transcript missense_variant 1054/2286 782/1797 261/598 E/G gAa/gGa rs199764261 1 NA -1 LILRB2 HGNC HGNC:6606 protein_coding YES CCDS12886.1 ENSP00000375629 Q8N423.169 UPI00034F23A2 NM_005874.5 tolerated(1) benign(0.01) 6/14 PROSITE_profiles:PS50835,PANTHER:PTHR11738:SF170,PANTHER:PTHR11738,Gene3D:2.60.40.10,SMART:SM00409,SMART:SM00408,Superfamily:SSF48726 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . TTC . 4558.6 NA NA NA NA NA NA NA NA NA 54278985 LILRB2 10288 . GRCh38 chr19 54278989 54278989 + Missense_Mutation SNP C C A rs949672239 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.778G>T p.Gly260Trp p.G260W ENST00000391749 6/14 NA NA NA NA NA NA LILRB2,missense_variant,p.Gly260Trp,ENST00000314446,NM_001080978.4;LILRB2,missense_variant,p.Gly260Trp,ENST00000391748,NM_001278403.2;LILRB2,missense_variant,p.Gly144Trp,ENST00000434421,NM_001278404.2;LILRB2,missense_variant,p.Gly260Trp,ENST00000391749,NM_005874.5;LILRB2,missense_variant,p.Gly260Trp,ENST00000391746,NM_001278405.2,NM_001278406.2;MIR4752,upstream_gene_variant,,ENST00000579672,;LILRB2,downstream_gene_variant,,ENST00000471216,;LILRB2,non_coding_transcript_exon_variant,,ENST00000493242,;LILRB2,upstream_gene_variant,,ENST00000455108,; A ENSG00000131042 ENST00000391749 Transcript missense_variant 1050/2286 778/1797 260/598 G/W Ggg/Tgg rs949672239,COSV58745691 1 NA -1 LILRB2 HGNC HGNC:6606 protein_coding YES CCDS12886.1 ENSP00000375629 Q8N423.169 UPI00034F23A2 NM_005874.5 tolerated(0.06) benign(0.273) 6/14 PROSITE_profiles:PS50835,PANTHER:PTHR11738:SF170,PANTHER:PTHR11738,Gene3D:2.60.40.10,SMART:SM00409,SMART:SM00408,Superfamily:SSF48726 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 1 NA 0,1 NA NA . CCC . 4595.6 NA NA NA NA NA NA NA NA NA 54278989 LILRB2 10288 . GRCh38 chr19 54279014 54279014 + Silent SNP A A G rs369776179 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.753T>C p.Tyr251= p.Y251= ENST00000391749 6/14 NA NA NA NA NA NA LILRB2,synonymous_variant,p.Tyr251=,ENST00000314446,NM_001080978.4;LILRB2,synonymous_variant,p.Tyr251=,ENST00000391748,NM_001278403.2;LILRB2,synonymous_variant,p.Tyr135=,ENST00000434421,NM_001278404.2;LILRB2,synonymous_variant,p.Tyr251=,ENST00000391749,NM_005874.5;LILRB2,synonymous_variant,p.Tyr251=,ENST00000391746,NM_001278405.2,NM_001278406.2;MIR4752,upstream_gene_variant,,ENST00000579672,;LILRB2,downstream_gene_variant,,ENST00000471216,;LILRB2,non_coding_transcript_exon_variant,,ENST00000493242,;LILRB2,upstream_gene_variant,,ENST00000455108,; G ENSG00000131042 ENST00000391749 Transcript synonymous_variant 1025/2286 753/1797 251/598 Y taT/taC rs369776179,COSV58744470 1 NA -1 LILRB2 HGNC HGNC:6606 protein_coding YES CCDS12886.1 ENSP00000375629 Q8N423.169 UPI00034F23A2 NM_005874.5 6/14 PROSITE_profiles:PS50835,PANTHER:PTHR11738:SF170,PANTHER:PTHR11738,Gene3D:2.60.40.10,SMART:SM00409,SMART:SM00408,Superfamily:SSF48726 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA LOW 1 SNV 1 NA 0,1 NA NA . CAT . 4890.6 1.193e-05 NA 2.893e-05 NA NA NA NA 0.000163 3.266e-05 54279014 LILRB2 10288 . GRCh38 chr19 54279021 54279021 + Missense_Mutation SNP A A G rs1185119635 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.746T>C p.Val249Ala p.V249A ENST00000391749 6/14 NA NA NA NA NA NA LILRB2,missense_variant,p.Val249Ala,ENST00000314446,NM_001080978.4;LILRB2,missense_variant,p.Val249Ala,ENST00000391748,NM_001278403.2;LILRB2,missense_variant,p.Val133Ala,ENST00000434421,NM_001278404.2;LILRB2,missense_variant,p.Val249Ala,ENST00000391749,NM_005874.5;LILRB2,missense_variant,p.Val249Ala,ENST00000391746,NM_001278405.2,NM_001278406.2;MIR4752,upstream_gene_variant,,ENST00000579672,;LILRB2,downstream_gene_variant,,ENST00000471216,;LILRB2,non_coding_transcript_exon_variant,,ENST00000493242,;LILRB2,upstream_gene_variant,,ENST00000455108,; G ENSG00000131042 ENST00000391749 Transcript missense_variant 1018/2286 746/1797 249/598 V/A gTc/gCc rs1185119635 1 NA -1 LILRB2 HGNC HGNC:6606 protein_coding YES CCDS12886.1 ENSP00000375629 Q8N423.169 UPI00034F23A2 NM_005874.5 tolerated(0.11) benign(0.048) 6/14 PROSITE_profiles:PS50835,PANTHER:PTHR11738:SF170,PANTHER:PTHR11738,Gene3D:2.60.40.10,SMART:SM00409,SMART:SM00408,Superfamily:SSF48726 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . GAC . 5207.6 NA NA NA NA NA NA NA NA NA 54279021 LILRB2 10288 . GRCh38 chr19 54279030 54279030 + Missense_Mutation SNP A A C rs780392944 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.737T>G p.Val246Gly p.V246G ENST00000391749 6/14 NA NA NA NA NA NA LILRB2,missense_variant,p.Val246Gly,ENST00000314446,NM_001080978.4;LILRB2,missense_variant,p.Val246Gly,ENST00000391748,NM_001278403.2;LILRB2,missense_variant,p.Val130Gly,ENST00000434421,NM_001278404.2;LILRB2,missense_variant,p.Val246Gly,ENST00000391749,NM_005874.5;LILRB2,missense_variant,p.Val246Gly,ENST00000391746,NM_001278405.2,NM_001278406.2;MIR4752,upstream_gene_variant,,ENST00000579672,;LILRB2,downstream_gene_variant,,ENST00000471216,;LILRB2,non_coding_transcript_exon_variant,,ENST00000493242,;LILRB2,upstream_gene_variant,,ENST00000455108,; C ENSG00000131042 ENST00000391749 Transcript missense_variant 1009/2286 737/1797 246/598 V/G gTc/gGc rs780392944 1 NA -1 LILRB2 HGNC HGNC:6606 protein_coding YES CCDS12886.1 ENSP00000375629 Q8N423.169 UPI00034F23A2 NM_005874.5 tolerated(0.52) benign(0.001) 6/14 PROSITE_profiles:PS50835,PANTHER:PTHR11738:SF170,PANTHER:PTHR11738,Gene3D:2.60.40.10,SMART:SM00409,SMART:SM00408,Superfamily:SSF48726 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . GAC . 4944.6 3.182e-05 0.000123 8.68e-05 NA NA NA 2.638e-05 NA NA 54279030 LILRB2 10288 . GRCh38 chr19 54279040 54279040 + Missense_Mutation SNP G G A rs1473278082 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.727C>T p.Leu243Phe p.L243F ENST00000391749 6/14 NA NA NA NA NA NA LILRB2,missense_variant,p.Leu243Phe,ENST00000314446,NM_001080978.4;LILRB2,missense_variant,p.Leu243Phe,ENST00000391748,NM_001278403.2;LILRB2,missense_variant,p.Leu127Phe,ENST00000434421,NM_001278404.2;LILRB2,missense_variant,p.Leu243Phe,ENST00000391749,NM_005874.5;LILRB2,missense_variant,p.Leu243Phe,ENST00000391746,NM_001278405.2,NM_001278406.2;MIR4752,upstream_gene_variant,,ENST00000579672,;LILRB2,downstream_gene_variant,,ENST00000471216,;LILRB2,non_coding_transcript_exon_variant,,ENST00000493242,;LILRB2,upstream_gene_variant,,ENST00000455108,; A ENSG00000131042 ENST00000391749 Transcript missense_variant 999/2286 727/1797 243/598 L/F Ctc/Ttc rs1473278082,COSV58744548 1 NA -1 LILRB2 HGNC HGNC:6606 protein_coding YES CCDS12886.1 ENSP00000375629 Q8N423.169 UPI00034F23A2 NM_005874.5 deleterious(0.01) possibly_damaging(0.851) 6/14 PROSITE_profiles:PS50835,PANTHER:PTHR11738:SF170,PANTHER:PTHR11738,Gene3D:2.60.40.10,SMART:SM00409,SMART:SM00408,Superfamily:SSF48726 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 1 NA 0,1 NA NA . AGG . 5082.6 NA NA NA NA NA NA NA NA NA 54279040 LILRB2 10288 . GRCh38 chr19 54279046 54279046 + Frame_Shift_Del DEL G G - novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.721del p.Leu241Ter p.L241* ENST00000391749 6/14 NA NA NA NA NA NA LILRB2,frameshift_variant,p.Leu241Ter,ENST00000314446,NM_001080978.4;LILRB2,frameshift_variant,p.Leu241Ter,ENST00000391748,NM_001278403.2;LILRB2,frameshift_variant,p.Leu125Ter,ENST00000434421,NM_001278404.2;LILRB2,frameshift_variant,p.Leu241Ter,ENST00000391749,NM_005874.5;LILRB2,frameshift_variant,p.Leu241Ter,ENST00000391746,NM_001278405.2,NM_001278406.2;MIR4752,upstream_gene_variant,,ENST00000579672,;LILRB2,downstream_gene_variant,,ENST00000471216,;LILRB2,non_coding_transcript_exon_variant,,ENST00000493242,;LILRB2,upstream_gene_variant,,ENST00000455108,; - ENSG00000131042 ENST00000391749 Transcript frameshift_variant 993/2286 721/1797 241/598 L/X Ctg/tg 1 NA -1 LILRB2 HGNC HGNC:6606 protein_coding YES CCDS12886.1 ENSP00000375629 Q8N423.169 UPI00034F23A2 NM_005874.5 6/14 PROSITE_profiles:PS50835,PANTHER:PTHR11738:SF170,PANTHER:PTHR11738,Gene3D:2.60.40.10,SMART:SM00409,SMART:SM00408,Superfamily:SSF48726 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 NA NA NA . CAGG . 5271.6 NA NA NA NA NA NA NA NA NA 54279045 LILRB2 10288 . GRCh38 chr19 54279050 54279051 + Frame_Shift_Ins INS - - C novel NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.716_717insG p.Ser240LysfsTer9 p.S240Kfs*9 ENST00000391749 6/14 NA NA NA NA NA NA LILRB2,frameshift_variant,p.Ser240LysfsTer9,ENST00000314446,NM_001080978.4;LILRB2,frameshift_variant,p.Ser240LysfsTer9,ENST00000391748,NM_001278403.2;LILRB2,frameshift_variant,p.Ser124LysfsTer9,ENST00000434421,NM_001278404.2;LILRB2,frameshift_variant,p.Ser240LysfsTer9,ENST00000391749,NM_005874.5;LILRB2,frameshift_variant,p.Ser240LysfsTer9,ENST00000391746,NM_001278405.2,NM_001278406.2;MIR4752,upstream_gene_variant,,ENST00000579672,;LILRB2,downstream_gene_variant,,ENST00000471216,;LILRB2,non_coding_transcript_exon_variant,,ENST00000493242,;LILRB2,upstream_gene_variant,,ENST00000455108,; C ENSG00000131042 ENST00000391749 Transcript frameshift_variant 988-989/2286 716-717/1797 239/598 E/EX gaa/gaGa 1 NA -1 LILRB2 HGNC HGNC:6606 protein_coding YES CCDS12886.1 ENSP00000375629 Q8N423.169 UPI00034F23A2 NM_005874.5 6/14 PROSITE_profiles:PS50835,PANTHER:PTHR11738:SF170,PANTHER:PTHR11738,Gene3D:2.60.40.10,SMART:SM00409,SMART:SM00408,Superfamily:SSF48726 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 insertion 1 NA NA NA . TTT . 5402.64 NA NA NA NA NA NA NA NA NA 54279050 LILRB2 10288 . GRCh38 chr19 54280275 54280275 + Missense_Mutation SNP C C T rs383369 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.59G>A p.Arg20His p.R20H ENST00000391749 3/14 NA NA NA NA NA NA LILRB2,missense_variant,p.Arg20His,ENST00000314446,NM_001080978.4;LILRB2,missense_variant,p.Arg20His,ENST00000391748,NM_001278403.2;LILRB2,missense_variant,p.Arg20His,ENST00000391749,NM_005874.5;LILRB2,missense_variant,p.Arg20His,ENST00000391746,NM_001278405.2,NM_001278406.2;LILRB2,intron_variant,,ENST00000434421,NM_001278404.2;MIR4752,upstream_gene_variant,,ENST00000579672,;LILRB2,non_coding_transcript_exon_variant,,ENST00000471216,;LILRB2,non_coding_transcript_exon_variant,,ENST00000493242,;LILRB2,upstream_gene_variant,,ENST00000455108,;,regulatory_region_variant,,ENSR00000593658,; T ENSG00000131042 ENST00000391749 Transcript missense_variant 331/2286 59/1797 20/598 R/H cGc/cAc rs383369 1 NA -1 LILRB2 HGNC HGNC:6606 protein_coding YES CCDS12886.1 ENSP00000375629 Q8N423.169 UPI00034F23A2 NM_005874.5 tolerated(0.77) benign(0.001) 3/14 Cleavage_site_(Signalp):SignalP-noTM,PANTHER:PTHR11738:SF170,PANTHER:PTHR11738 NA 0.9357 0.768 NA 0.3988 0.828 0.8497 NA NA 24497837,26887787,18439545,29234882,30988702,31540116 NA NA NA NA MODERATE 1 SNV 1 NA 1 NA NA . GCG . 16726.03 NA NA NA NA NA NA NA NA NA 54280275 LILRB2 10288 . GRCh38 chr19 54280287 54280287 + Missense_Mutation SNP C C T rs1333109386 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.47G>A p.Gly16Asp p.G16D ENST00000391749 3/14 NA NA NA NA NA NA LILRB2,missense_variant,p.Gly16Asp,ENST00000314446,NM_001080978.4;LILRB2,missense_variant,p.Gly16Asp,ENST00000391748,NM_001278403.2;LILRB2,missense_variant,p.Gly16Asp,ENST00000391749,NM_005874.5;LILRB2,missense_variant,p.Gly16Asp,ENST00000391746,NM_001278405.2,NM_001278406.2;LILRB2,intron_variant,,ENST00000434421,NM_001278404.2;MIR4752,upstream_gene_variant,,ENST00000579672,;LILRB2,non_coding_transcript_exon_variant,,ENST00000471216,;LILRB2,non_coding_transcript_exon_variant,,ENST00000493242,;LILRB2,upstream_gene_variant,,ENST00000455108,;,regulatory_region_variant,,ENSR00000593658,; T ENSG00000131042 ENST00000391749 Transcript missense_variant 319/2286 47/1797 16/598 G/D gGc/gAc rs1333109386 1 NA -1 LILRB2 HGNC HGNC:6606 protein_coding YES CCDS12886.1 ENSP00000375629 Q8N423.169 UPI00034F23A2 NM_005874.5 tolerated(0.18) benign(0.16) 3/14 Cleavage_site_(Signalp):SignalP-noTM,PANTHER:PTHR11738:SF170,PANTHER:PTHR11738 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . GCC . 1083.6 NA NA NA NA NA NA NA NA NA 54280287 LILRB2 10288 . GRCh38 chr19 54280292 54280292 + Silent SNP A A G rs1302786461 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.42T>C p.Ser14= p.S14= ENST00000391749 3/14 NA NA NA NA NA NA LILRB2,synonymous_variant,p.Ser14=,ENST00000314446,NM_001080978.4;LILRB2,synonymous_variant,p.Ser14=,ENST00000391748,NM_001278403.2;LILRB2,synonymous_variant,p.Ser14=,ENST00000391749,NM_005874.5;LILRB2,synonymous_variant,p.Ser14=,ENST00000391746,NM_001278405.2,NM_001278406.2;LILRB2,intron_variant,,ENST00000434421,NM_001278404.2;MIR4752,upstream_gene_variant,,ENST00000579672,;LILRB2,non_coding_transcript_exon_variant,,ENST00000471216,;LILRB2,non_coding_transcript_exon_variant,,ENST00000493242,;LILRB2,upstream_gene_variant,,ENST00000455108,;,regulatory_region_variant,,ENSR00000593658,; G ENSG00000131042 ENST00000391749 Transcript synonymous_variant 314/2286 42/1797 14/598 S agT/agC rs1302786461 1 NA -1 LILRB2 HGNC HGNC:6606 protein_coding YES CCDS12886.1 ENSP00000375629 Q8N423.169 UPI00034F23A2 NM_005874.5 3/14 Cleavage_site_(Signalp):SignalP-noTM,PANTHER:PTHR11738:SF170,PANTHER:PTHR11738 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . GAC . 1142.6 NA NA NA NA NA NA NA NA NA 54280292 LILRA4 23547 . GRCh38 chr19 54336935 54336935 + Silent SNP T T C rs775310124 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1161A>G p.Ser387= p.S387= ENST00000291759 6/8 NA NA NA NA NA NA LILRA4,synonymous_variant,p.Ser387=,ENST00000291759,NM_012276.5;AC245884.11,non_coding_transcript_exon_variant,,ENST00000616950,;LILRA4,synonymous_variant,p.Ser86=,ENST00000595581,;LILRA4,downstream_gene_variant,,ENST00000421056,;,regulatory_region_variant,,ENSR00000593669,; C ENSG00000239961 ENST00000291759 Transcript synonymous_variant 1230/1956 1161/1500 387/499 S tcA/tcG rs775310124 1 NA -1 LILRA4 HGNC HGNC:15503 protein_coding YES CCDS12890.1 ENSP00000291759 P59901.142 UPI00034F238A NM_012276.5 6/8 PROSITE_profiles:PS50835,PANTHER:PTHR11738,PANTHER:PTHR11738:SF98,Gene3D:2.60.40.10,Pfam:PF13895,PIRSF:PIRSF001979,SMART:SM00408,SMART:SM00409,Superfamily:SSF48726 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 2 NA NA NA . CTG . 207.6 5.169e-05 NA NA NA NA 0.0003234 5.274e-05 NA NA 54336935 LILRA4 23547 . GRCh38 chr19 54336979 54336979 + Missense_Mutation SNP C C A novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1117G>T p.Ala373Ser p.A373S ENST00000291759 6/8 NA NA NA NA NA NA LILRA4,missense_variant,p.Ala373Ser,ENST00000291759,NM_012276.5;AC245884.11,non_coding_transcript_exon_variant,,ENST00000616950,;LILRA4,missense_variant,p.Ala72Ser,ENST00000595581,;LILRA4,downstream_gene_variant,,ENST00000421056,;,regulatory_region_variant,,ENSR00000593669,; A ENSG00000239961 ENST00000291759 Transcript missense_variant 1186/1956 1117/1500 373/499 A/S Gct/Tct 1 NA -1 LILRA4 HGNC HGNC:15503 protein_coding YES CCDS12890.1 ENSP00000291759 P59901.142 UPI00034F238A NM_012276.5 tolerated(0.24) benign(0.028) 6/8 PROSITE_profiles:PS50835,PANTHER:PTHR11738,PANTHER:PTHR11738:SF98,Gene3D:2.60.40.10,Pfam:PF13895,PIRSF:PIRSF001979,SMART:SM00408,SMART:SM00409,Superfamily:SSF48726 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 2 NA NA NA . GCT . 278.6 NA NA NA NA NA NA NA NA NA 54336979 LILRA4 23547 . GRCh38 chr19 54336980 54336981 + Frame_Shift_Ins INS - - TG novel NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1115_1116insCA p.Ala373LysfsTer11 p.A373Kfs*11 ENST00000291759 6/8 NA NA NA NA NA NA LILRA4,frameshift_variant,p.Ala373LysfsTer11,ENST00000291759,NM_012276.5;AC245884.11,non_coding_transcript_exon_variant,,ENST00000616950,;LILRA4,frameshift_variant,p.Ala72LysfsTer11,ENST00000595581,;LILRA4,downstream_gene_variant,,ENST00000421056,;,regulatory_region_variant,,ENSR00000593669,; TG ENSG00000239961 ENST00000291759 Transcript frameshift_variant 1184-1185/1956 1115-1116/1500 372/499 G/GX gga/ggCAa 1 NA -1 LILRA4 HGNC HGNC:15503 protein_coding YES CCDS12890.1 ENSP00000291759 P59901.142 UPI00034F238A NM_012276.5 6/8 PROSITE_profiles:PS50835,PANTHER:PTHR11738,PANTHER:PTHR11738:SF98,Gene3D:2.60.40.10,Pfam:PF13895,PIRSF:PIRSF001979,SMART:SM00408,SMART:SM00409,Superfamily:SSF48726 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 insertion 2 NA NA NA . CTC . 176.64 NA NA NA NA NA NA NA NA NA 54336980 LILRA4 23547 . GRCh38 chr19 54336981 54336981 + Missense_Mutation SNP C C G NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1115G>C p.Gly372Ala p.G372A ENST00000291759 6/8 NA NA NA NA NA NA LILRA4,missense_variant,p.Gly372Ala,ENST00000291759,NM_012276.5;AC245884.11,non_coding_transcript_exon_variant,,ENST00000616950,;LILRA4,missense_variant,p.Gly71Ala,ENST00000595581,;LILRA4,downstream_gene_variant,,ENST00000421056,;,regulatory_region_variant,,ENSR00000593669,; G ENSG00000239961 ENST00000291759 Transcript missense_variant 1184/1956 1115/1500 372/499 G/A gGa/gCa COSV99393352 1 NA -1 LILRA4 HGNC HGNC:15503 protein_coding YES CCDS12890.1 ENSP00000291759 P59901.142 UPI00034F238A NM_012276.5 deleterious(0.02) benign(0.053) 6/8 PROSITE_profiles:PS50835,PANTHER:PTHR11738,PANTHER:PTHR11738:SF98,Gene3D:2.60.40.10,Pfam:PF13895,PIRSF:PIRSF001979,SMART:SM00408,SMART:SM00409,Superfamily:SSF48726 NA NA NA NA NA NA NA NA NA 1 NA NA NA NA MODERATE 1 SNV 2 NA 1 NA NA . TCC . 162.6 NA NA NA NA NA NA NA NA NA 54336981 LILRA4 23547 . GRCh38 chr19 54336984 54336985 + Frame_Shift_Del DEL TA TA - novel NA HCI-EC-23 NORMAL TA TA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1111_1112del p.Tyr371ArgfsTer4 p.Y371Rfs*4 ENST00000291759 6/8 NA NA NA NA NA NA LILRA4,frameshift_variant,p.Tyr371ArgfsTer4,ENST00000291759,NM_012276.5;AC245884.11,non_coding_transcript_exon_variant,,ENST00000616950,;LILRA4,frameshift_variant,p.Tyr70ArgfsTer4,ENST00000595581,;LILRA4,downstream_gene_variant,,ENST00000421056,;,regulatory_region_variant,,ENSR00000593669,; - ENSG00000239961 ENST00000291759 Transcript frameshift_variant 1180-1181/1956 1111-1112/1500 371/499 Y/X TAc/c 1 NA -1 LILRA4 HGNC HGNC:15503 protein_coding YES CCDS12890.1 ENSP00000291759 P59901.142 UPI00034F238A NM_012276.5 6/8 PROSITE_profiles:PS50835,PANTHER:PTHR11738,PANTHER:PTHR11738:SF98,Gene3D:2.60.40.10,Pfam:PF13895,PIRSF:PIRSF001979,SMART:SM00408,SMART:SM00409,Superfamily:SSF48726 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 2 NA NA NA . CGTAC . 93.6 NA NA NA NA NA NA NA NA NA 54336983 LILRA4 23547 . GRCh38 chr19 54336987 54336987 + Missense_Mutation SNP A A T rs1018525884 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1109T>A p.Met370Lys p.M370K ENST00000291759 6/8 NA NA NA NA NA NA LILRA4,missense_variant,p.Met370Lys,ENST00000291759,NM_012276.5;AC245884.11,non_coding_transcript_exon_variant,,ENST00000616950,;LILRA4,missense_variant,p.Met69Lys,ENST00000595581,;LILRA4,downstream_gene_variant,,ENST00000421056,;,regulatory_region_variant,,ENSR00000593669,; T ENSG00000239961 ENST00000291759 Transcript missense_variant 1178/1956 1109/1500 370/499 M/K aTg/aAg rs1018525884 1 NA -1 LILRA4 HGNC HGNC:15503 protein_coding YES CCDS12890.1 ENSP00000291759 P59901.142 UPI00034F238A NM_012276.5 tolerated(1) benign(0) 6/8 PROSITE_profiles:PS50835,PANTHER:PTHR11738,PANTHER:PTHR11738:SF98,Gene3D:2.60.40.10,Pfam:PF13895,PIRSF:PIRSF001979,SMART:SM00408,SMART:SM00409,Superfamily:SSF48726 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 2 NA NA NA . CAT . 63.6 3.977e-06 NA NA NA 5.437e-05 NA NA NA NA 54336987 LENG8 114823 . GRCh38 chr19 54454602 54454602 + Missense_Mutation SNP C C T rs770407646 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.599C>T p.Thr200Met p.T200M ENST00000610347 5/14 NA NA NA NA NA NA LENG8,missense_variant,p.Thr200Met,ENST00000610347,NM_001375638.1,NM_001375639.1,NM_001375641.1,NM_001375640.1;LENG8,missense_variant,p.Thr163Met,ENST00000376514,;LENG8,missense_variant,p.Thr200Met,ENST00000326764,NM_052925.4;LENG8,missense_variant,p.Thr163Met,ENST00000616932,;LENG8,missense_variant,p.Thr200Met,ENST00000439657,;LENG8,upstream_gene_variant,,ENST00000421200,;LENG8,downstream_gene_variant,,ENST00000436479,;LENG8,downstream_gene_variant,,ENST00000443957,;LENG8,downstream_gene_variant,,ENST00000462541,; T ENSG00000167615 ENST00000610347 Transcript missense_variant 654/5789 599/2625 200/874 T/M aCg/aTg rs770407646,COSV100458166 1 NA 1 LENG8 HGNC HGNC:15500 protein_coding YES ENSP00000478590 A0A087WUE4.37 UPI000198C7D4 NM_001375638.1,NM_001375639.1,NM_001375641.1,NM_001375640.1 deleterious(0.03) benign(0.165) 5/14 PANTHER:PTHR12436,PANTHER:PTHR12436:SF4,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 5 NA 0,1 NA NA . ACG . 3314.6 1.666e-05 NA NA NA NA NA 9.285e-06 NA 9.944e-05 54454602 LENG9 0 . GRCh38 chr19 54462808 54462809 + In_Frame_Ins INS - - CCT rs36031488 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.716_718dup p.Glu239dup p.E239dup ENST00000611161 1/1 NA NA NA NA NA NA LENG9,inframe_insertion,p.Glu239dup,ENST00000611161,NM_001301782.2;CDC42EP5,downstream_gene_variant,,ENST00000301200,NM_145057.4;LENG8,downstream_gene_variant,,ENST00000326764,NM_052925.4;LENG8,downstream_gene_variant,,ENST00000376514,;LENG8,downstream_gene_variant,,ENST00000421200,;LENG8,downstream_gene_variant,,ENST00000610347,NM_001375638.1,NM_001375639.1,NM_001375641.1,NM_001375640.1;LENG8,downstream_gene_variant,,ENST00000616932,;,regulatory_region_variant,,ENSR00000111515,;,regulatory_region_variant,,ENSR00000593704,;,TF_binding_site_variant,,ENSM00000240176,; CCT ENSG00000275183 ENST00000611161 Transcript inframe_insertion 970-971/2047 718-719/1437 240/478 A/EA gca/gAGGca rs36031488 1 NA -1 LENG9 HGNC HGNC:16306 protein_coding YES CCDS77358.1 ENSP00000479355 A0A087WVD1.47 UPI000165DD07 NM_001301782.2 1/1 PANTHER:PTHR46729 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE NA insertion NA NA NA NA . TGC . 4212.64 NA NA NA NA NA NA NA NA NA 54462808 LILRA2 11027 . GRCh38 chr19 54574304 54574304 + Missense_Mutation SNP A A C rs1834697 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.74A>C p.His25Pro p.H25P ENST00000391738 3/8 NA NA NA NA NA NA LILRA2,missense_variant,p.His25Pro,ENST00000391738,NM_001130917.3;LILRA2,missense_variant,p.His25Pro,ENST00000251376,NM_006866.4,NM_001290271.2;LILRA2,missense_variant,p.His25Pro,ENST00000251377,;LILRA2,missense_variant,p.His25Pro,ENST00000439534,;LILRA2,missense_variant,p.His13Pro,ENST00000391737,NM_001290270.1;LILRA2,missense_variant,p.His25Pro,ENST00000629481,;LILRA2,upstream_gene_variant,,ENST00000472992,;LILRA2,non_coding_transcript_exon_variant,,ENST00000495786,;,regulatory_region_variant,,ENSR00000593728,; C ENSG00000239998 ENST00000391738 Transcript missense_variant 163/4482 74/1452 25/483 H/P cAc/cCc rs1834697 1 NA 1 LILRA2 HGNC HGNC:6603 protein_coding YES CCDS46179.1 ENSP00000375618 Q8N149.152 UPI00034F238E NM_001130917.3 tolerated(0.33) benign(0) 3/8 PANTHER:PTHR11738,PANTHER:PTHR11738:SF165,Gene3D:2.60.40.10,PIRSF:PIRSF001979 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CAC . 4506.6 6.373e-05 NA 8.686e-05 NA NA NA 9.69e-05 NA 6.533e-05 54574304 LILRA2 11027 . GRCh38 chr19 54574349 54574349 + Missense_Mutation SNP T T C rs777406331 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.119T>C p.Ile40Thr p.I40T ENST00000391738 3/8 NA NA NA NA NA NA LILRA2,missense_variant,p.Ile40Thr,ENST00000391738,NM_001130917.3;LILRA2,missense_variant,p.Ile40Thr,ENST00000251376,NM_006866.4,NM_001290271.2;LILRA2,missense_variant,p.Ile40Thr,ENST00000251377,;LILRA2,missense_variant,p.Ile40Thr,ENST00000439534,;LILRA2,missense_variant,p.Ile28Thr,ENST00000391737,NM_001290270.1;LILRA2,missense_variant,p.Ile40Thr,ENST00000629481,;LILRA2,upstream_gene_variant,,ENST00000472992,;LILRA2,non_coding_transcript_exon_variant,,ENST00000495786,;,regulatory_region_variant,,ENSR00000593728,; C ENSG00000239998 ENST00000391738 Transcript missense_variant 208/4482 119/1452 40/483 I/T aTc/aCc rs777406331,COSV99253185 1 NA 1 LILRA2 HGNC HGNC:6603 protein_coding YES CCDS46179.1 ENSP00000375618 Q8N149.152 UPI00034F238E NM_001130917.3 tolerated(0.74) benign(0) 3/8 PROSITE_profiles:PS50835,CDD:cd05751,PANTHER:PTHR11738,PANTHER:PTHR11738:SF165,Gene3D:2.60.40.10,Pfam:PF13895,PIRSF:PIRSF001979,SMART:SM00409,SMART:SM00408,Superfamily:SSF48726 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 1 NA 0,1 NA NA . ATC . 2502.6 7.954e-06 NA NA NA NA NA 1.758e-05 NA NA 54574349 LILRA2 11027 . GRCh38 chr19 54574353 54574353 + Silent SNP G G A rs747007367 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.123G>A p.Gln41= p.Q41= ENST00000391738 3/8 NA NA NA NA NA NA LILRA2,synonymous_variant,p.Gln41=,ENST00000391738,NM_001130917.3;LILRA2,synonymous_variant,p.Gln41=,ENST00000251376,NM_006866.4,NM_001290271.2;LILRA2,synonymous_variant,p.Gln41=,ENST00000251377,;LILRA2,synonymous_variant,p.Gln41=,ENST00000439534,;LILRA2,synonymous_variant,p.Gln29=,ENST00000391737,NM_001290270.1;LILRA2,synonymous_variant,p.Gln41=,ENST00000629481,;LILRA2,upstream_gene_variant,,ENST00000472992,;LILRA2,non_coding_transcript_exon_variant,,ENST00000495786,;,regulatory_region_variant,,ENSR00000593728,; A ENSG00000239998 ENST00000391738 Transcript synonymous_variant 212/4482 123/1452 41/483 Q caG/caA rs747007367 1 NA 1 LILRA2 HGNC HGNC:6603 protein_coding YES CCDS46179.1 ENSP00000375618 Q8N149.152 UPI00034F238E NM_001130917.3 3/8 PROSITE_profiles:PS50835,CDD:cd05751,PANTHER:PTHR11738,PANTHER:PTHR11738:SF165,Gene3D:2.60.40.10,Pfam:PF13895,PIRSF:PIRSF001979,SMART:SM00409,SMART:SM00408,Superfamily:SSF48726 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . AGG . 2401.6 3.977e-06 NA NA NA NA NA 8.791e-06 NA NA 54574353 LILRA2 11027 . GRCh38 chr19 54574356 54574356 + Silent SNP A A G rs757136169 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.126A>G p.Gly42= p.G42= ENST00000391738 3/8 NA NA NA NA NA NA LILRA2,synonymous_variant,p.Gly42=,ENST00000391738,NM_001130917.3;LILRA2,synonymous_variant,p.Gly42=,ENST00000251376,NM_006866.4,NM_001290271.2;LILRA2,synonymous_variant,p.Gly42=,ENST00000251377,;LILRA2,synonymous_variant,p.Gly42=,ENST00000439534,;LILRA2,synonymous_variant,p.Gly30=,ENST00000391737,NM_001290270.1;LILRA2,synonymous_variant,p.Gly42=,ENST00000629481,;LILRA2,upstream_gene_variant,,ENST00000472992,;LILRA2,non_coding_transcript_exon_variant,,ENST00000495786,;,regulatory_region_variant,,ENSR00000593728,; G ENSG00000239998 ENST00000391738 Transcript synonymous_variant 215/4482 126/1452 42/483 G ggA/ggG rs757136169 1 NA 1 LILRA2 HGNC HGNC:6603 protein_coding YES CCDS46179.1 ENSP00000375618 Q8N149.152 UPI00034F238E NM_001130917.3 3/8 PROSITE_profiles:PS50835,CDD:cd05751,PANTHER:PTHR11738,PANTHER:PTHR11738:SF165,Gene3D:2.60.40.10,Pfam:PF13895,PIRSF:PIRSF001979,SMART:SM00409,SMART:SM00408,Superfamily:SSF48726 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . GAA . 2413.6 3.977e-06 NA NA NA NA NA 8.79e-06 NA NA 54574356 LILRA2 11027 . GRCh38 chr19 54574799 54574799 + Missense_Mutation SNP C C A rs1304061217 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.421C>A p.Leu141Ile p.L141I ENST00000391738 4/8 NA NA NA NA NA NA LILRA2,missense_variant,p.Leu141Ile,ENST00000391738,NM_001130917.3;LILRA2,missense_variant,p.Leu141Ile,ENST00000251376,NM_006866.4,NM_001290271.2;LILRA2,missense_variant,p.Leu141Ile,ENST00000251377,;LILRA2,missense_variant,p.Leu141Ile,ENST00000439534,;LILRA2,missense_variant,p.Leu129Ile,ENST00000391737,NM_001290270.1;LILRA2,intron_variant,,ENST00000629481,;LILRA2,upstream_gene_variant,,ENST00000472992,;LILRA2,non_coding_transcript_exon_variant,,ENST00000495786,;,regulatory_region_variant,,ENSR00000593728,; A ENSG00000239998 ENST00000391738 Transcript missense_variant 510/4482 421/1452 141/483 L/I Ctc/Atc rs1304061217 1 NA 1 LILRA2 HGNC HGNC:6603 protein_coding YES CCDS46179.1 ENSP00000375618 Q8N149.152 UPI00034F238E NM_001130917.3 deleterious(0.02) possibly_damaging(0.695) 4/8 PANTHER:PTHR11738,PANTHER:PTHR11738:SF165,Gene3D:2.60.40.10,PIRSF:PIRSF001979,SMART:SM00409,Superfamily:SSF48726 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CCT . 14762.6 3.976e-06 NA 2.892e-05 NA NA NA NA NA NA 54574799 LILRA2 11027 . GRCh38 chr19 54574809 54574809 + Missense_Mutation SNP T T A rs571423648 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.431T>A p.Val144Asp p.V144D ENST00000391738 4/8 NA NA NA NA NA NA LILRA2,missense_variant,p.Val144Asp,ENST00000391738,NM_001130917.3;LILRA2,missense_variant,p.Val144Asp,ENST00000251376,NM_006866.4,NM_001290271.2;LILRA2,missense_variant,p.Val144Asp,ENST00000251377,;LILRA2,missense_variant,p.Val144Asp,ENST00000439534,;LILRA2,missense_variant,p.Val132Asp,ENST00000391737,NM_001290270.1;LILRA2,intron_variant,,ENST00000629481,;LILRA2,upstream_gene_variant,,ENST00000472992,;LILRA2,non_coding_transcript_exon_variant,,ENST00000495786,;,regulatory_region_variant,,ENSR00000593728,; A ENSG00000239998 ENST00000391738 Transcript missense_variant 520/4482 431/1452 144/483 V/D gTc/gAc rs571423648 1 NA 1 LILRA2 HGNC HGNC:6603 protein_coding YES CCDS46179.1 ENSP00000375618 Q8N149.152 UPI00034F238E NM_001130917.3 tolerated(0.15) benign(0) 4/8 PANTHER:PTHR11738,PANTHER:PTHR11738:SF165,Gene3D:2.60.40.10,PIRSF:PIRSF001979,SMART:SM00409,Superfamily:SSF48726 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . GTC . 14253.6 7.955e-06 NA 5.785e-05 NA NA NA NA NA NA 54574809 LILRA2 11027 . GRCh38 chr19 54574828 54574828 + Silent SNP C C T rs139612472 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.450C>T p.Asp150= p.D150= ENST00000391738 4/8 NA NA NA NA NA NA LILRA2,synonymous_variant,p.Asp150=,ENST00000391738,NM_001130917.3;LILRA2,synonymous_variant,p.Asp150=,ENST00000251376,NM_006866.4,NM_001290271.2;LILRA2,synonymous_variant,p.Asp150=,ENST00000251377,;LILRA2,synonymous_variant,p.Asp150=,ENST00000439534,;LILRA2,synonymous_variant,p.Asp138=,ENST00000391737,NM_001290270.1;LILRA2,intron_variant,,ENST00000629481,;LILRA2,upstream_gene_variant,,ENST00000472992,;LILRA2,non_coding_transcript_exon_variant,,ENST00000495786,;,regulatory_region_variant,,ENSR00000593728,; T ENSG00000239998 ENST00000391738 Transcript synonymous_variant 539/4482 450/1452 150/483 D gaC/gaT rs139612472 1 NA 1 LILRA2 HGNC HGNC:6603 protein_coding YES CCDS46179.1 ENSP00000375618 Q8N149.152 UPI00034F238E NM_001130917.3 4/8 PANTHER:PTHR11738,PANTHER:PTHR11738:SF165,Gene3D:2.60.40.10,PIRSF:PIRSF001979,SMART:SM00409,Superfamily:SSF48726 2e-04 8e-04 NA NA NA NA NA 0.001135 0.0001163 NA NA NA NA LOW 1 SNV 1 NA NA NA . ACG . 12374.6 8.555e-06 NA NA NA NA NA NA NA 6.717e-05 54574828 LILRA2 11027 . GRCh38 chr19 54574902 54574902 + Missense_Mutation SNP G G C rs749102289 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.524G>C p.Trp175Ser p.W175S ENST00000391738 4/8 NA NA NA NA NA NA LILRA2,missense_variant,p.Trp175Ser,ENST00000391738,NM_001130917.3;LILRA2,missense_variant,p.Trp175Ser,ENST00000251376,NM_006866.4,NM_001290271.2;LILRA2,missense_variant,p.Trp175Ser,ENST00000251377,;LILRA2,missense_variant,p.Trp175Ser,ENST00000439534,;LILRA2,missense_variant,p.Trp163Ser,ENST00000391737,NM_001290270.1;LILRA2,intron_variant,,ENST00000629481,;LILRA2,upstream_gene_variant,,ENST00000472992,;LILRA2,non_coding_transcript_exon_variant,,ENST00000495786,;,regulatory_region_variant,,ENSR00000593728,; C ENSG00000239998 ENST00000391738 Transcript missense_variant 613/4482 524/1452 175/483 W/S tGg/tCg rs749102289,COSV52199651 1 NA 1 LILRA2 HGNC HGNC:6603 protein_coding YES CCDS46179.1 ENSP00000375618 Q8N149.152 UPI00034F238E NM_001130917.3 tolerated(0.28) benign(0.007) 4/8 PANTHER:PTHR11738,PANTHER:PTHR11738:SF165,Gene3D:2.60.40.10,PIRSF:PIRSF001979,SMART:SM00409,Superfamily:SSF48726 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 1 NA 0,1 NA NA . TGG . 17398.6 7.953e-06 NA NA NA NA NA 1.758e-05 NA NA 54574902 LILRA2 11027 . GRCh38 chr19 54574903 54574903 + Nonsense_Mutation SNP G G A rs1455280111 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.525G>A p.Trp175Ter p.W175* ENST00000391738 4/8 NA NA NA NA NA NA LILRA2,stop_gained,p.Trp175Ter,ENST00000391738,NM_001130917.3;LILRA2,stop_gained,p.Trp175Ter,ENST00000251376,NM_006866.4,NM_001290271.2;LILRA2,stop_gained,p.Trp175Ter,ENST00000251377,;LILRA2,stop_gained,p.Trp175Ter,ENST00000439534,;LILRA2,stop_gained,p.Trp163Ter,ENST00000391737,NM_001290270.1;LILRA2,intron_variant,,ENST00000629481,;LILRA2,upstream_gene_variant,,ENST00000472992,;LILRA2,non_coding_transcript_exon_variant,,ENST00000495786,;,regulatory_region_variant,,ENSR00000593728,; A ENSG00000239998 ENST00000391738 Transcript stop_gained 614/4482 525/1452 175/483 W/* tgG/tgA rs1455280111,COSV52189631 1 NA 1 LILRA2 HGNC HGNC:6603 protein_coding YES CCDS46179.1 ENSP00000375618 Q8N149.152 UPI00034F238E NM_001130917.3 4/8 PANTHER:PTHR11738,PANTHER:PTHR11738:SF165,Gene3D:2.60.40.10,PIRSF:PIRSF001979,SMART:SM00409,Superfamily:SSF48726 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA HIGH 1 SNV 1 NA 0,1 NA NA . GGT . 17548.6 8.562e-06 NA NA NA NA NA NA NA 6.716e-05 54574903 LILRA2 11027 . GRCh38 chr19 54574907 54574907 + Missense_Mutation SNP T T C rs748077295 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.529T>C p.Trp177Arg p.W177R ENST00000391738 4/8 NA NA NA NA NA NA LILRA2,missense_variant,p.Trp177Arg,ENST00000391738,NM_001130917.3;LILRA2,missense_variant,p.Trp177Arg,ENST00000251376,NM_006866.4,NM_001290271.2;LILRA2,missense_variant,p.Trp177Arg,ENST00000251377,;LILRA2,missense_variant,p.Trp177Arg,ENST00000439534,;LILRA2,missense_variant,p.Trp165Arg,ENST00000391737,NM_001290270.1;LILRA2,intron_variant,,ENST00000629481,;LILRA2,upstream_gene_variant,,ENST00000472992,;LILRA2,non_coding_transcript_exon_variant,,ENST00000495786,;,regulatory_region_variant,,ENSR00000593728,; C ENSG00000239998 ENST00000391738 Transcript missense_variant 618/4482 529/1452 177/483 W/R Tgg/Cgg rs748077295 1 NA 1 LILRA2 HGNC HGNC:6603 protein_coding YES CCDS46179.1 ENSP00000375618 Q8N149.152 UPI00034F238E NM_001130917.3 tolerated(0.18) benign(0.005) 4/8 PANTHER:PTHR11738,PANTHER:PTHR11738:SF165,Gene3D:2.60.40.10,PIRSF:PIRSF001979,SMART:SM00409,Superfamily:SSF48726 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CTG . 17720.6 2.784e-05 NA NA NA NA NA 4.395e-05 NA 6.533e-05 54574907 LILRA2 11027 . GRCh38 chr19 54574939 54574939 + Silent SNP G G A rs200445040 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.561G>A p.Pro187= p.P187= ENST00000391738 4/8 NA NA NA NA NA NA LILRA2,synonymous_variant,p.Pro187=,ENST00000391738,NM_001130917.3;LILRA2,synonymous_variant,p.Pro187=,ENST00000251376,NM_006866.4,NM_001290271.2;LILRA2,synonymous_variant,p.Pro187=,ENST00000251377,;LILRA2,synonymous_variant,p.Pro187=,ENST00000439534,;LILRA2,synonymous_variant,p.Pro175=,ENST00000391737,NM_001290270.1;LILRA2,intron_variant,,ENST00000629481,;LILRA2,upstream_gene_variant,,ENST00000472992,;LILRA2,downstream_gene_variant,,ENST00000495786,;,regulatory_region_variant,,ENSR00000593728,; A ENSG00000239998 ENST00000391738 Transcript synonymous_variant 650/4482 561/1452 187/483 P ccG/ccA rs200445040 1 NA 1 LILRA2 HGNC HGNC:6603 protein_coding YES CCDS46179.1 ENSP00000375618 Q8N149.152 UPI00034F238E NM_001130917.3 4/8 PANTHER:PTHR11738,PANTHER:PTHR11738:SF165,Gene3D:2.60.40.10,PIRSF:PIRSF001979,SMART:SM00409,Superfamily:SSF48726 2e-04 NA NA NA NA 0.001 NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . CGA . 9010.6 3.181e-05 6.152e-05 NA NA NA 4.619e-05 4.395e-05 NA 3.266e-05 54574939 LILRA2 11027 . GRCh38 chr19 54574968 54574968 + Missense_Mutation SNP C C G rs138740762 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.590C>G p.Ala197Gly p.A197G ENST00000391738 4/8 NA NA NA NA NA NA LILRA2,missense_variant,p.Ala197Gly,ENST00000391738,NM_001130917.3;LILRA2,missense_variant,p.Ala197Gly,ENST00000251376,NM_006866.4,NM_001290271.2;LILRA2,missense_variant,p.Ala197Gly,ENST00000251377,;LILRA2,missense_variant,p.Ala197Gly,ENST00000439534,;LILRA2,missense_variant,p.Ala185Gly,ENST00000391737,NM_001290270.1;LILRA2,intron_variant,,ENST00000629481,;LILRA2,upstream_gene_variant,,ENST00000472992,;LILRA2,downstream_gene_variant,,ENST00000495786,;,regulatory_region_variant,,ENSR00000593728,; G ENSG00000239998 ENST00000391738 Transcript missense_variant 679/4482 590/1452 197/483 A/G gCt/gGt rs138740762,COSV52189262 1 NA 1 LILRA2 HGNC HGNC:6603 protein_coding YES CCDS46179.1 ENSP00000375618 Q8N149.152 UPI00034F238E NM_001130917.3 tolerated(1) benign(0) 4/8 PANTHER:PTHR11738,PANTHER:PTHR11738:SF165,Gene3D:2.60.40.10,PIRSF:PIRSF001979,SMART:SM00409,Superfamily:SSF48726 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 1 NA 0,1 NA NA . GCT . 18619.6 4.714e-05 0.0001239 NA NA NA NA 8.271e-05 NA NA 54574968 LILRA2 11027 . GRCh38 chr19 54574979 54574979 + Missense_Mutation SNP A A C rs751461750 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.601A>C p.Asn201His p.N201H ENST00000391738 4/8 NA NA NA NA NA NA LILRA2,missense_variant,p.Asn201His,ENST00000391738,NM_001130917.3;LILRA2,missense_variant,p.Asn201His,ENST00000251376,NM_006866.4,NM_001290271.2;LILRA2,missense_variant,p.Asn201His,ENST00000251377,;LILRA2,missense_variant,p.Asn201His,ENST00000439534,;LILRA2,missense_variant,p.Asn189His,ENST00000391737,NM_001290270.1;LILRA2,intron_variant,,ENST00000629481,;LILRA2,upstream_gene_variant,,ENST00000472992,;LILRA2,downstream_gene_variant,,ENST00000495786,;,regulatory_region_variant,,ENSR00000593728,; C ENSG00000239998 ENST00000391738 Transcript missense_variant 690/4482 601/1452 201/483 N/H Aac/Cac rs751461750 1 NA 1 LILRA2 HGNC HGNC:6603 protein_coding YES CCDS46179.1 ENSP00000375618 Q8N149.152 UPI00034F238E NM_001130917.3 tolerated(0.21) benign(0.006) 4/8 PANTHER:PTHR11738,PANTHER:PTHR11738:SF165,Gene3D:2.60.40.10,PIRSF:PIRSF001979,SMART:SM00409,Superfamily:SSF48726 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . GAA . 18337.6 7.955e-06 NA NA NA NA NA 1.758e-05 NA NA 54574979 LILRA2 11027 . GRCh38 chr19 54574982 54574982 + Missense_Mutation SNP T T G rs781217385 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.604T>G p.Ser202Ala p.S202A ENST00000391738 4/8 NA NA NA NA NA NA LILRA2,missense_variant,p.Ser202Ala,ENST00000391738,NM_001130917.3;LILRA2,missense_variant,p.Ser202Ala,ENST00000251376,NM_006866.4,NM_001290271.2;LILRA2,missense_variant,p.Ser202Ala,ENST00000251377,;LILRA2,missense_variant,p.Ser202Ala,ENST00000439534,;LILRA2,missense_variant,p.Ser190Ala,ENST00000391737,NM_001290270.1;LILRA2,intron_variant,,ENST00000629481,;LILRA2,upstream_gene_variant,,ENST00000472992,;LILRA2,downstream_gene_variant,,ENST00000495786,;,regulatory_region_variant,,ENSR00000593728,; G ENSG00000239998 ENST00000391738 Transcript missense_variant 693/4482 604/1452 202/483 S/A Tct/Gct rs781217385 1 NA 1 LILRA2 HGNC HGNC:6603 protein_coding YES CCDS46179.1 ENSP00000375618 Q8N149.152 UPI00034F238E NM_001130917.3 tolerated(0.21) benign(0.006) 4/8 PANTHER:PTHR11738,PANTHER:PTHR11738:SF165,Gene3D:2.60.40.10,PIRSF:PIRSF001979,SMART:SM00409,Superfamily:SSF48726 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CTC . 17354.6 7.956e-06 NA NA NA NA NA 1.759e-05 NA NA 54574982 LILRA2 11027 . GRCh38 chr19 54576036 54576036 + Silent SNP A A G rs371530255 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1182A>G p.Arg394= p.R394= ENST00000391738 6/8 NA NA NA NA NA NA LILRA2,synonymous_variant,p.Arg394=,ENST00000391738,NM_001130917.3;LILRA2,synonymous_variant,p.Arg394=,ENST00000251376,NM_006866.4,NM_001290271.2;LILRA2,synonymous_variant,p.Arg394=,ENST00000251377,;LILRA2,synonymous_variant,p.Arg382=,ENST00000391737,NM_001290270.1;LILRA2,synonymous_variant,p.Arg131=,ENST00000629481,;LILRA2,downstream_gene_variant,,ENST00000439534,;LILRA2,upstream_gene_variant,,ENST00000472992,;LILRA2,downstream_gene_variant,,ENST00000495786,; G ENSG00000239998 ENST00000391738 Transcript synonymous_variant 1271/4482 1182/1452 394/483 R agA/agG rs371530255 1 NA 1 LILRA2 HGNC HGNC:6603 protein_coding YES CCDS46179.1 ENSP00000375618 Q8N149.152 UPI00034F238E NM_001130917.3 6/8 PANTHER:PTHR11738,PANTHER:PTHR11738:SF165,Pfam:PF00047,Gene3D:2.60.40.10,PIRSF:PIRSF001979,SMART:SM00409,SMART:SM00408,Superfamily:SSF48726 2e-04 NA 0.0014 NA NA NA NA NA 0.0001163 NA NA NA NA LOW 1 SNV 1 NA NA NA . GAT . 562.6 2.784e-05 NA 5.786e-05 NA 5.437e-05 NA 3.517e-05 NA NA 54576036 LILRA2 11027 . GRCh38 chr19 54576043 54576043 + Missense_Mutation SNP A A G rs548197286 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1189A>G p.Ser397Gly p.S397G ENST00000391738 6/8 NA NA NA NA NA NA LILRA2,missense_variant,p.Ser397Gly,ENST00000391738,NM_001130917.3;LILRA2,missense_variant,p.Ser397Gly,ENST00000251376,NM_006866.4,NM_001290271.2;LILRA2,missense_variant,p.Ser397Gly,ENST00000251377,;LILRA2,missense_variant,p.Ser385Gly,ENST00000391737,NM_001290270.1;LILRA2,missense_variant,p.Ser134Gly,ENST00000629481,;LILRA2,downstream_gene_variant,,ENST00000439534,;LILRA2,upstream_gene_variant,,ENST00000472992,;LILRA2,downstream_gene_variant,,ENST00000495786,; G ENSG00000239998 ENST00000391738 Transcript missense_variant 1278/4482 1189/1452 397/483 S/G Agc/Ggc rs548197286 1 NA 1 LILRA2 HGNC HGNC:6603 protein_coding YES CCDS46179.1 ENSP00000375618 Q8N149.152 UPI00034F238E NM_001130917.3 tolerated(1) benign(0) 6/8 Low_complexity_(Seg):seg,PANTHER:PTHR11738,PANTHER:PTHR11738:SF165,Pfam:PF00047,Gene3D:2.60.40.10,PIRSF:PIRSF001979,SMART:SM00409,SMART:SM00408,Superfamily:SSF48726 2e-04 NA 0.0014 NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CAG . 1085.6 6.762e-05 NA 0.0001447 9.934e-05 0.0002718 NA 5.276e-05 NA NA 54576043 LILRA2 11027 . GRCh38 chr19 54576073 54576073 + Missense_Mutation SNP T T A rs867113539 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1219T>A p.Ser407Thr p.S407T ENST00000391738 6/8 NA NA NA NA NA NA LILRA2,missense_variant,p.Ser407Thr,ENST00000391738,NM_001130917.3;LILRA2,missense_variant,p.Ser407Thr,ENST00000251376,NM_006866.4,NM_001290271.2;LILRA2,missense_variant,p.Ser407Thr,ENST00000251377,;LILRA2,missense_variant,p.Ser395Thr,ENST00000391737,NM_001290270.1;LILRA2,missense_variant,p.Ser144Thr,ENST00000629481,;LILRA2,missense_variant,p.Ser2Thr,ENST00000472992,;LILRA2,downstream_gene_variant,,ENST00000439534,;LILRA2,downstream_gene_variant,,ENST00000495786,; A ENSG00000239998 ENST00000391738 Transcript missense_variant 1308/4482 1219/1452 407/483 S/T Tct/Act rs867113539 1 NA 1 LILRA2 HGNC HGNC:6603 protein_coding YES CCDS46179.1 ENSP00000375618 Q8N149.152 UPI00034F238E NM_001130917.3 tolerated(0.08) benign(0.028) 6/8 Low_complexity_(Seg):seg,PANTHER:PTHR11738,PANTHER:PTHR11738:SF165,Gene3D:2.60.40.10,PIRSF:PIRSF001979,SMART:SM00409,Superfamily:SSF48726 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . GTC . 4364.6 1.989e-05 NA NA NA NA NA 1.759e-05 0.0004888 NA 54576073 LILRA2 11027 . GRCh38 chr19 54576077 54576077 + Missense_Mutation SNP T T A rs750908758 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1223T>A p.Leu408His p.L408H ENST00000391738 6/8 NA NA NA NA NA NA LILRA2,missense_variant,p.Leu408His,ENST00000391738,NM_001130917.3;LILRA2,missense_variant,p.Leu408His,ENST00000251376,NM_006866.4,NM_001290271.2;LILRA2,missense_variant,p.Leu408His,ENST00000251377,;LILRA2,missense_variant,p.Leu396His,ENST00000391737,NM_001290270.1;LILRA2,missense_variant,p.Leu145His,ENST00000629481,;LILRA2,missense_variant,p.Leu3His,ENST00000472992,;LILRA2,downstream_gene_variant,,ENST00000439534,;LILRA2,downstream_gene_variant,,ENST00000495786,; A ENSG00000239998 ENST00000391738 Transcript missense_variant 1312/4482 1223/1452 408/483 L/H cTc/cAc rs750908758,COSV99253239 1 NA 1 LILRA2 HGNC HGNC:6603 protein_coding YES CCDS46179.1 ENSP00000375618 Q8N149.152 UPI00034F238E NM_001130917.3 tolerated(1) benign(0) 6/8 Low_complexity_(Seg):seg,PANTHER:PTHR11738,PANTHER:PTHR11738:SF165,Gene3D:2.60.40.10,PIRSF:PIRSF001979,SMART:SM00409,Superfamily:SSF48726 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 1 NA 0,1 NA NA . CTC . 4657.6 2.788e-05 NA NA NA NA NA 2.639e-05 0.0004908 3.28e-05 54576077 LILRA1 11024 . GRCh38 chr19 54594448 54594448 + Silent SNP T T C rs1244322068 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.42T>C p.Ser14= p.S14= ENST00000251372 3/10 NA NA NA NA NA NA LILRA1,synonymous_variant,p.Ser14=,ENST00000251372,NM_006863.4,NM_001278319.1;LILRA1,synonymous_variant,p.Ser14=,ENST00000453777,NM_001278318.2;LILRA2,downstream_gene_variant,,ENST00000251376,NM_006866.4,NM_001290271.2;LILRA2,downstream_gene_variant,,ENST00000391738,NM_001130917.3;AC245036.5,downstream_gene_variant,,ENST00000596330,;LILRA1,non_coding_transcript_exon_variant,,ENST00000473156,;LILRA1,non_coding_transcript_exon_variant,,ENST00000495417,;LILRA1,non_coding_transcript_exon_variant,,ENST00000477255,;,regulatory_region_variant,,ENSR00000593731,; C ENSG00000104974 ENST00000251372 Transcript synonymous_variant 240/3232 42/1470 14/489 S agT/agC rs1244322068 1 NA 1 LILRA1 HGNC HGNC:6602 protein_coding YES CCDS12901.1 ENSP00000251372 O75019.155 UPI0000034C00 NM_006863.4,NM_001278319.1 3/10 Cleavage_site_(Signalp):SignalP-noTM,PANTHER:PTHR11738:SF165,PANTHER:PTHR11738,PIRSF:PIRSF001979 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . GTC . 4118.6 NA NA NA NA NA NA NA NA NA 54594448 LILRA1 11024 . GRCh38 chr19 54594667 54594667 + Missense_Mutation SNP A A C rs1178200495 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.73A>C p.Thr25Pro p.T25P ENST00000251372 4/10 NA NA NA NA NA NA LILRA1,missense_variant,p.Thr25Pro,ENST00000251372,NM_006863.4,NM_001278319.1;LILRA1,missense_variant,p.Thr25Pro,ENST00000453777,NM_001278318.2;LILRA2,downstream_gene_variant,,ENST00000251376,NM_006866.4,NM_001290271.2;LILRA2,downstream_gene_variant,,ENST00000391738,NM_001130917.3;AC245036.5,downstream_gene_variant,,ENST00000596330,;LILRA1,splice_region_variant,,ENST00000473156,;LILRA1,splice_region_variant,,ENST00000495417,;LILRA1,splice_region_variant,,ENST00000477255,;,regulatory_region_variant,,ENSR00000593731,; C ENSG00000104974 ENST00000251372 Transcript missense_variant,splice_region_variant 271/3232 73/1470 25/489 T/P Acc/Ccc rs1178200495 1 NA 1 LILRA1 HGNC HGNC:6602 protein_coding YES CCDS12901.1 ENSP00000251372 O75019.155 UPI0000034C00 NM_006863.4,NM_001278319.1 tolerated(0.28) benign(0.018) 4/10 PANTHER:PTHR11738:SF165,PANTHER:PTHR11738,PIRSF:PIRSF001979,Gene3D:2.60.40.10 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . GAC . 124.6 NA NA NA NA NA NA NA NA NA 54594667 LILRA1 11024 . GRCh38 chr19 54595780 54595780 + Missense_Mutation SNP T T G rs200318086 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.803T>G p.Leu268Arg p.L268R ENST00000251372 6/10 NA NA NA NA NA NA LILRA1,missense_variant,p.Leu268Arg,ENST00000251372,NM_006863.4,NM_001278319.1;LILRA1,intron_variant,,ENST00000453777,NM_001278318.2;LILRA1,non_coding_transcript_exon_variant,,ENST00000473156,;LILRA1,non_coding_transcript_exon_variant,,ENST00000495417,;LILRA1,non_coding_transcript_exon_variant,,ENST00000477255,; G ENSG00000104974 ENST00000251372 Transcript missense_variant 1001/3232 803/1470 268/489 L/R cTc/cGc rs200318086 1 NA 1 LILRA1 HGNC HGNC:6602 protein_coding YES CCDS12901.1 ENSP00000251372 O75019.155 UPI0000034C00 NM_006863.4,NM_001278319.1 tolerated(1) benign(0.003) 6/10 PANTHER:PTHR11738:SF165,PANTHER:PTHR11738,PIRSF:PIRSF001979,Gene3D:2.60.40.10,SMART:SM00409,SMART:SM00408,Superfamily:SSF48726 2e-04 NA NA NA NA 0.001 NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CTC . 3001.6 1.591e-05 NA NA NA NA NA 1.758e-05 NA 6.533e-05 54595780 LILRA1 11024 . GRCh38 chr19 54595789 54595789 + Missense_Mutation SNP C C G rs1006660661 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.812C>G p.Pro271Arg p.P271R ENST00000251372 6/10 NA NA NA NA NA NA LILRA1,missense_variant,p.Pro271Arg,ENST00000251372,NM_006863.4,NM_001278319.1;LILRA1,intron_variant,,ENST00000453777,NM_001278318.2;LILRA1,non_coding_transcript_exon_variant,,ENST00000473156,;LILRA1,non_coding_transcript_exon_variant,,ENST00000495417,;LILRA1,non_coding_transcript_exon_variant,,ENST00000477255,; G ENSG00000104974 ENST00000251372 Transcript missense_variant 1010/3232 812/1470 271/489 P/R cCa/cGa rs1006660661 1 NA 1 LILRA1 HGNC HGNC:6602 protein_coding YES CCDS12901.1 ENSP00000251372 O75019.155 UPI0000034C00 NM_006863.4,NM_001278319.1 tolerated(1) benign(0.001) 6/10 PANTHER:PTHR11738:SF165,PANTHER:PTHR11738,PIRSF:PIRSF001979,Gene3D:2.60.40.10,SMART:SM00409,SMART:SM00408,Superfamily:SSF48726 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CCA . 3330.6 3.977e-06 NA NA NA NA NA 8.791e-06 NA NA 54595789 LILRA1 11024 . GRCh38 chr19 54595790 54595790 + Silent SNP A A G rs1018464967 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.813A>G p.Pro271= p.P271= ENST00000251372 6/10 NA NA NA NA NA NA LILRA1,synonymous_variant,p.Pro271=,ENST00000251372,NM_006863.4,NM_001278319.1;LILRA1,intron_variant,,ENST00000453777,NM_001278318.2;LILRA1,non_coding_transcript_exon_variant,,ENST00000473156,;LILRA1,non_coding_transcript_exon_variant,,ENST00000495417,;LILRA1,non_coding_transcript_exon_variant,,ENST00000477255,; G ENSG00000104974 ENST00000251372 Transcript synonymous_variant 1011/3232 813/1470 271/489 P ccA/ccG rs1018464967 1 NA 1 LILRA1 HGNC HGNC:6602 protein_coding YES CCDS12901.1 ENSP00000251372 O75019.155 UPI0000034C00 NM_006863.4,NM_001278319.1 6/10 PANTHER:PTHR11738:SF165,PANTHER:PTHR11738,PIRSF:PIRSF001979,Gene3D:2.60.40.10,SMART:SM00409,SMART:SM00408,Superfamily:SSF48726 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . CAC . 3342.6 3.977e-06 NA NA NA NA NA 8.791e-06 NA NA 54595790 LILRA1 11024 . GRCh38 chr19 54595864 54595864 + Missense_Mutation SNP G G C rs757520653 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.887G>C p.Arg296Thr p.R296T ENST00000251372 6/10 NA NA NA NA NA NA LILRA1,missense_variant,p.Arg296Thr,ENST00000251372,NM_006863.4,NM_001278319.1;LILRA1,intron_variant,,ENST00000453777,NM_001278318.2;LILRA1,non_coding_transcript_exon_variant,,ENST00000473156,;LILRA1,non_coding_transcript_exon_variant,,ENST00000495417,;LILRA1,non_coding_transcript_exon_variant,,ENST00000477255,; C ENSG00000104974 ENST00000251372 Transcript missense_variant 1085/3232 887/1470 296/489 R/T aGa/aCa rs757520653 1 NA 1 LILRA1 HGNC HGNC:6602 protein_coding YES CCDS12901.1 ENSP00000251372 O75019.155 UPI0000034C00 NM_006863.4,NM_001278319.1 tolerated(0.09) benign(0.181) 6/10 PANTHER:PTHR11738:SF165,PANTHER:PTHR11738,PIRSF:PIRSF001979,Gene3D:2.60.40.10,SMART:SM00409,SMART:SM00408,Superfamily:SSF48726 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . AGA . 3872.6 5.584e-05 NA 5.8e-05 NA NA 9.247e-05 6.167e-05 0.0001633 6.545e-05 54595864 LILRB1 10859 . GRCh38 chr19 54630981 54630981 + Missense_Mutation SNP C C G rs1294801109 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.16C>G p.Gln6Glu p.Q6E ENST00000427581 1/15 NA NA NA NA NA NA LILRB1,missense_variant,p.Gln6Glu,ENST00000427581,;LILRB1,intron_variant,,ENST00000324602,NM_001081637.2;LILRB1,intron_variant,,ENST00000396327,NM_001081638.3;LILRB1,intron_variant,,ENST00000396331,NM_006669.6;LILRB1,intron_variant,,ENST00000396332,NM_001081639.3;LILRB1,upstream_gene_variant,,ENST00000396315,;LILRB1,upstream_gene_variant,,ENST00000396317,NM_001278398.2;LILRB1-AS1,downstream_gene_variant,,ENST00000456337,;LILRB1,upstream_gene_variant,,ENST00000462628,;LILRB1,upstream_gene_variant,,ENST00000473412,;LILRB1,upstream_gene_variant,,ENST00000480257,;LILRB1,upstream_gene_variant,,ENST00000421584,;LILRB1,upstream_gene_variant,,ENST00000480375,;LILRB1,upstream_gene_variant,,ENST00000487425,;,regulatory_region_variant,,ENSR00001026241,; G ENSG00000104972 ENST00000427581 Transcript missense_variant 349/2751 16/2106 6/701 Q/E Cag/Gag rs1294801109 1 NA 1 LILRB1 HGNC HGNC:6605 protein_coding YES ENSP00000395004 F6TER3.64 UPI00034F2397 tolerated_low_confidence(0.64) benign(0) 1/15 PROSITE_profiles:PS51257 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE NA SNV 5 NA NA NA . CCA . 9807.6 NA NA NA NA NA NA NA NA NA 54630981 LILRB1 10859 . GRCh38 chr19 54630989 54630989 + Silent SNP G G A rs778144921 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.24G>A p.Pro8= p.P8= ENST00000427581 1/15 NA NA NA NA NA NA LILRB1,synonymous_variant,p.Pro8=,ENST00000427581,;LILRB1,intron_variant,,ENST00000324602,NM_001081637.2;LILRB1,intron_variant,,ENST00000396327,NM_001081638.3;LILRB1,intron_variant,,ENST00000396331,NM_006669.6;LILRB1,intron_variant,,ENST00000396332,NM_001081639.3;LILRB1,upstream_gene_variant,,ENST00000396315,;LILRB1,upstream_gene_variant,,ENST00000396317,NM_001278398.2;LILRB1-AS1,downstream_gene_variant,,ENST00000456337,;LILRB1,upstream_gene_variant,,ENST00000462628,;LILRB1,upstream_gene_variant,,ENST00000473412,;LILRB1,upstream_gene_variant,,ENST00000480257,;LILRB1,upstream_gene_variant,,ENST00000421584,;LILRB1,upstream_gene_variant,,ENST00000480375,;LILRB1,upstream_gene_variant,,ENST00000487425,;,regulatory_region_variant,,ENSR00001026241,; A ENSG00000104972 ENST00000427581 Transcript synonymous_variant 357/2751 24/2106 8/701 P ccG/ccA rs778144921 1 NA 1 LILRB1 HGNC HGNC:6605 protein_coding YES ENSP00000395004 F6TER3.64 UPI00034F2397 1/15 PROSITE_profiles:PS51257 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW NA SNV 5 NA NA NA . CGA . 10224.6 2.795e-05 NA NA NA NA 4.626e-05 4.42e-05 NA 3.271e-05 54630989 LILRB1 10859 . GRCh38 chr19 54630991 54630991 + Missense_Mutation SNP T T G rs546848609 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.26T>G p.Ile9Ser p.I9S ENST00000427581 1/15 NA NA NA NA NA NA LILRB1,missense_variant,p.Ile9Ser,ENST00000427581,;LILRB1,intron_variant,,ENST00000324602,NM_001081637.2;LILRB1,intron_variant,,ENST00000396327,NM_001081638.3;LILRB1,intron_variant,,ENST00000396331,NM_006669.6;LILRB1,intron_variant,,ENST00000396332,NM_001081639.3;LILRB1,upstream_gene_variant,,ENST00000396315,;LILRB1,upstream_gene_variant,,ENST00000396317,NM_001278398.2;LILRB1-AS1,downstream_gene_variant,,ENST00000456337,;LILRB1,upstream_gene_variant,,ENST00000462628,;LILRB1,upstream_gene_variant,,ENST00000473412,;LILRB1,upstream_gene_variant,,ENST00000480257,;LILRB1,upstream_gene_variant,,ENST00000421584,;LILRB1,upstream_gene_variant,,ENST00000480375,;LILRB1,upstream_gene_variant,,ENST00000487425,;,regulatory_region_variant,,ENSR00001026241,; G ENSG00000104972 ENST00000427581 Transcript missense_variant 359/2751 26/2106 9/701 I/S aTt/aGt rs546848609 1 NA 1 LILRB1 HGNC HGNC:6605 protein_coding YES ENSP00000395004 F6TER3.64 UPI00034F2397 tolerated_low_confidence(0.93) benign(0) 1/15 PROSITE_profiles:PS51257 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE NA SNV 5 NA NA NA . ATT . 10168.6 NA NA NA NA NA NA NA NA NA 54630991 LILRB1 10859 . GRCh38 chr19 54630994 54630994 + Missense_Mutation SNP G G T rs1471008908 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.29G>T p.Gly10Val p.G10V ENST00000427581 1/15 NA NA NA NA NA NA LILRB1,missense_variant,p.Gly10Val,ENST00000427581,;LILRB1,intron_variant,,ENST00000324602,NM_001081637.2;LILRB1,intron_variant,,ENST00000396327,NM_001081638.3;LILRB1,intron_variant,,ENST00000396331,NM_006669.6;LILRB1,intron_variant,,ENST00000396332,NM_001081639.3;LILRB1,upstream_gene_variant,,ENST00000396315,;LILRB1,upstream_gene_variant,,ENST00000396317,NM_001278398.2;LILRB1-AS1,downstream_gene_variant,,ENST00000456337,;LILRB1,upstream_gene_variant,,ENST00000462628,;LILRB1,upstream_gene_variant,,ENST00000473412,;LILRB1,upstream_gene_variant,,ENST00000480257,;LILRB1,upstream_gene_variant,,ENST00000421584,;LILRB1,upstream_gene_variant,,ENST00000480375,;LILRB1,upstream_gene_variant,,ENST00000487425,;,regulatory_region_variant,,ENSR00001026241,; T ENSG00000104972 ENST00000427581 Transcript missense_variant 362/2751 29/2106 10/701 G/V gGc/gTc rs1471008908 1 NA 1 LILRB1 HGNC HGNC:6605 protein_coding YES ENSP00000395004 F6TER3.64 UPI00034F2397 tolerated_low_confidence(0.22) benign(0) 1/15 PROSITE_profiles:PS51257 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE NA SNV 5 NA NA NA . GGC . 10276.6 NA NA NA NA NA NA NA NA NA 54630994 LILRB1 10859 . GRCh38 chr19 54631001 54631001 + Silent SNP T T C rs1264367297 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.36T>C p.Thr12= p.T12= ENST00000427581 1/15 NA NA NA NA NA NA LILRB1,synonymous_variant,p.Thr12=,ENST00000427581,;LILRB1,intron_variant,,ENST00000324602,NM_001081637.2;LILRB1,intron_variant,,ENST00000396327,NM_001081638.3;LILRB1,intron_variant,,ENST00000396331,NM_006669.6;LILRB1,intron_variant,,ENST00000396332,NM_001081639.3;LILRB1,upstream_gene_variant,,ENST00000396315,;LILRB1,upstream_gene_variant,,ENST00000396317,NM_001278398.2;LILRB1-AS1,downstream_gene_variant,,ENST00000456337,;LILRB1,upstream_gene_variant,,ENST00000462628,;LILRB1,upstream_gene_variant,,ENST00000473412,;LILRB1,upstream_gene_variant,,ENST00000480257,;LILRB1,upstream_gene_variant,,ENST00000421584,;LILRB1,upstream_gene_variant,,ENST00000480375,;LILRB1,upstream_gene_variant,,ENST00000487425,;,regulatory_region_variant,,ENSR00001026241,; C ENSG00000104972 ENST00000427581 Transcript synonymous_variant 369/2751 36/2106 12/701 T acT/acC rs1264367297,COSV61119688 1 NA 1 LILRB1 HGNC HGNC:6605 protein_coding YES ENSP00000395004 F6TER3.64 UPI00034F2397 1/15 PROSITE_profiles:PS51257 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA LOW NA SNV 5 NA 0,1 NA NA . CTC . 10501.6 NA NA NA NA NA NA NA NA NA 54631001 LILRB1 10859 . GRCh38 chr19 54631011 54631011 + Frame_Shift_Del DEL T T - rs1263408000 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.46del p.Ser16LeufsTer22 p.S16Lfs*22 ENST00000427581 1/15 NA NA NA NA NA NA LILRB1,frameshift_variant,p.Ser16LeufsTer22,ENST00000427581,;LILRB1,intron_variant,,ENST00000324602,NM_001081637.2;LILRB1,intron_variant,,ENST00000396327,NM_001081638.3;LILRB1,intron_variant,,ENST00000396331,NM_006669.6;LILRB1,intron_variant,,ENST00000396332,NM_001081639.3;LILRB1,upstream_gene_variant,,ENST00000396315,;LILRB1,upstream_gene_variant,,ENST00000396317,NM_001278398.2;LILRB1-AS1,downstream_gene_variant,,ENST00000456337,;LILRB1,upstream_gene_variant,,ENST00000462628,;LILRB1,upstream_gene_variant,,ENST00000473412,;LILRB1,upstream_gene_variant,,ENST00000480257,;LILRB1,upstream_gene_variant,,ENST00000421584,;LILRB1,upstream_gene_variant,,ENST00000480375,;LILRB1,upstream_gene_variant,,ENST00000487425,;,regulatory_region_variant,,ENSR00001026241,; - ENSG00000104972 ENST00000427581 Transcript frameshift_variant 379/2751 46/2106 16/701 S/X Tct/ct rs1263408000 1 NA 1 LILRB1 HGNC HGNC:6605 protein_coding YES ENSP00000395004 F6TER3.64 UPI00034F2397 1/15 PROSITE_profiles:PS51257 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH NA deletion 5 NA NA NA . TCTC . 5861.6 NA NA NA NA NA NA NA NA NA 54631010 LILRB1 10859 . GRCh38 chr19 54631016 54631016 + Silent SNP A A G rs748775582 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.51A>G p.Leu17= p.L17= ENST00000427581 1/15 NA NA NA NA NA NA LILRB1,synonymous_variant,p.Leu17=,ENST00000427581,;LILRB1,intron_variant,,ENST00000324602,NM_001081637.2;LILRB1,intron_variant,,ENST00000396327,NM_001081638.3;LILRB1,intron_variant,,ENST00000396331,NM_006669.6;LILRB1,intron_variant,,ENST00000396332,NM_001081639.3;LILRB1,upstream_gene_variant,,ENST00000396315,;LILRB1,upstream_gene_variant,,ENST00000396317,NM_001278398.2;LILRB1-AS1,downstream_gene_variant,,ENST00000456337,;LILRB1,upstream_gene_variant,,ENST00000462628,;LILRB1,upstream_gene_variant,,ENST00000473412,;LILRB1,upstream_gene_variant,,ENST00000480257,;LILRB1,upstream_gene_variant,,ENST00000421584,;LILRB1,upstream_gene_variant,,ENST00000480375,;LILRB1,upstream_gene_variant,,ENST00000487425,;,regulatory_region_variant,,ENSR00001026241,; G ENSG00000104972 ENST00000427581 Transcript synonymous_variant 384/2751 51/2106 17/701 L ctA/ctG rs748775582 1 NA 1 LILRB1 HGNC HGNC:6605 protein_coding YES ENSP00000395004 F6TER3.64 UPI00034F2397 1/15 PROSITE_profiles:PS51257 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW NA SNV 5 NA NA NA . TAT . 10338.6 1.194e-05 NA 2.894e-05 NA NA NA 1.759e-05 NA NA 54631016 LILRB1 10859 . GRCh38 chr19 54631055 54631055 + Missense_Mutation SNP G G T rs538336177 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.90G>T p.Arg30Ser p.R30S ENST00000427581 1/15 NA NA NA NA NA NA LILRB1,missense_variant,p.Arg30Ser,ENST00000427581,;LILRB1,5_prime_UTR_variant,,ENST00000396331,NM_006669.6;LILRB1,5_prime_UTR_variant,,ENST00000396327,NM_001081638.3;LILRB1,5_prime_UTR_variant,,ENST00000396332,NM_001081639.3;LILRB1,5_prime_UTR_variant,,ENST00000324602,NM_001081637.2;LILRB1,upstream_gene_variant,,ENST00000396315,;LILRB1,upstream_gene_variant,,ENST00000396317,NM_001278398.2;LILRB1-AS1,downstream_gene_variant,,ENST00000456337,;LILRB1,upstream_gene_variant,,ENST00000462628,;LILRB1,upstream_gene_variant,,ENST00000473412,;LILRB1,upstream_gene_variant,,ENST00000480257,;LILRB1,upstream_gene_variant,,ENST00000421584,;LILRB1,upstream_gene_variant,,ENST00000480375,;LILRB1,upstream_gene_variant,,ENST00000487425,;,regulatory_region_variant,,ENSR00001026241,; T ENSG00000104972 ENST00000427581 Transcript missense_variant 423/2751 90/2106 30/701 R/S agG/agT rs538336177 1 NA 1 LILRB1 HGNC HGNC:6605 protein_coding YES ENSP00000395004 F6TER3.64 UPI00034F2397 tolerated_low_confidence(0.72) benign(0.009) 1/15 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE NA SNV 5 NA NA NA . GGG . 6168.6 3.977e-06 NA 2.892e-05 NA NA NA NA NA NA 54631055 LILRB1 10859 . GRCh38 chr19 54631288 54631288 + Silent SNP C C A rs1985501 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.160C>A p.Arg54= p.R54= ENST00000427581 2/15 NA NA NA NA NA NA LILRB1,synonymous_variant,p.Arg18=,ENST00000396331,NM_006669.6;LILRB1,synonymous_variant,p.Arg18=,ENST00000396327,NM_001081638.3;LILRB1,synonymous_variant,p.Arg18=,ENST00000396332,NM_001081639.3;LILRB1,synonymous_variant,p.Arg18=,ENST00000324602,NM_001081637.2;LILRB1,synonymous_variant,p.Arg54=,ENST00000427581,;LILRB1,synonymous_variant,p.Arg18=,ENST00000396315,;LILRB1,synonymous_variant,p.Arg18=,ENST00000396317,NM_001278398.2;LILRB1-AS1,downstream_gene_variant,,ENST00000456337,;LILRB1,non_coding_transcript_exon_variant,,ENST00000480257,;LILRB1,upstream_gene_variant,,ENST00000462628,;LILRB1,upstream_gene_variant,,ENST00000473412,;LILRB1,synonymous_variant,p.Arg18=,ENST00000421584,;LILRB1,upstream_gene_variant,,ENST00000480375,;LILRB1,upstream_gene_variant,,ENST00000487425,;,regulatory_region_variant,,ENSR00001026241,; A ENSG00000104972 ENST00000427581 Transcript synonymous_variant 493/2751 160/2106 54/701 R Cgg/Agg rs1985501 1 NA 1 LILRB1 HGNC HGNC:6605 protein_coding YES ENSP00000395004 F6TER3.64 UPI00034F2397 2/15 PANTHER:PTHR11738,PANTHER:PTHR11738:SF165 NA 0.4463 0.5159 NA 0.4018 0.6968 0.7127 NA NA NA NA NA NA LOW NA SNV 5 NA NA NA . CCG . 12770.03 NA NA NA NA NA NA NA NA NA 54631288 LILRB1 10859 . GRCh38 chr19 54631531 54631531 + Silent SNP A A G rs375114134 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.210A>G p.Glu70= p.E70= ENST00000427581 3/15 NA NA NA NA NA NA LILRB1,synonymous_variant,p.Glu34=,ENST00000396331,NM_006669.6;LILRB1,synonymous_variant,p.Glu34=,ENST00000396327,NM_001081638.3;LILRB1,synonymous_variant,p.Glu34=,ENST00000396332,NM_001081639.3;LILRB1,synonymous_variant,p.Glu34=,ENST00000324602,NM_001081637.2;LILRB1,synonymous_variant,p.Glu70=,ENST00000427581,;LILRB1,synonymous_variant,p.Glu34=,ENST00000396315,;LILRB1,synonymous_variant,p.Glu34=,ENST00000396317,NM_001278398.2;LILRB1-AS1,downstream_gene_variant,,ENST00000456337,;LILRB1,non_coding_transcript_exon_variant,,ENST00000480257,;LILRB1,upstream_gene_variant,,ENST00000462628,;LILRB1,upstream_gene_variant,,ENST00000473412,;LILRB1,synonymous_variant,p.Glu34=,ENST00000421584,;LILRB1,upstream_gene_variant,,ENST00000480375,;LILRB1,upstream_gene_variant,,ENST00000487425,;,regulatory_region_variant,,ENSR00001026241,; G ENSG00000104972 ENST00000427581 Transcript synonymous_variant 543/2751 210/2106 70/701 E gaA/gaG rs375114134 1 NA 1 LILRB1 HGNC HGNC:6605 protein_coding YES ENSP00000395004 F6TER3.64 UPI00034F2397 3/15 Gene3D:2.60.40.10,Pfam:PF13895,PROSITE_profiles:PS50835,PANTHER:PTHR11738,PANTHER:PTHR11738:SF165,SMART:SM00409,Superfamily:SSF48726,CDD:cd05751 2e-04 8e-04 NA NA NA NA NA NA 0.0001163 NA NA NA NA LOW NA SNV 5 NA NA NA . AAC . 3264.6 2.001e-05 6.214e-05 NA NA NA 9.286e-05 8.857e-06 0.0001645 NA 54631531 LILRB1 10859 . GRCh38 chr19 54631552 54631552 + Silent SNP G G A rs1366459464 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.231G>A p.Gln77= p.Q77= ENST00000427581 3/15 NA NA NA NA NA NA LILRB1,synonymous_variant,p.Gln41=,ENST00000396331,NM_006669.6;LILRB1,synonymous_variant,p.Gln41=,ENST00000396327,NM_001081638.3;LILRB1,synonymous_variant,p.Gln41=,ENST00000396332,NM_001081639.3;LILRB1,synonymous_variant,p.Gln41=,ENST00000324602,NM_001081637.2;LILRB1,synonymous_variant,p.Gln77=,ENST00000427581,;LILRB1,synonymous_variant,p.Gln41=,ENST00000396315,;LILRB1,synonymous_variant,p.Gln41=,ENST00000396317,NM_001278398.2;LILRB1-AS1,downstream_gene_variant,,ENST00000456337,;LILRB1,non_coding_transcript_exon_variant,,ENST00000480257,;LILRB1,upstream_gene_variant,,ENST00000462628,;LILRB1,upstream_gene_variant,,ENST00000473412,;LILRB1,synonymous_variant,p.Gln41=,ENST00000421584,;LILRB1,upstream_gene_variant,,ENST00000480375,;LILRB1,upstream_gene_variant,,ENST00000487425,;,regulatory_region_variant,,ENSR00001026241,; A ENSG00000104972 ENST00000427581 Transcript synonymous_variant 564/2751 231/2106 77/701 Q caG/caA rs1366459464 1 NA 1 LILRB1 HGNC HGNC:6605 protein_coding YES ENSP00000395004 F6TER3.64 UPI00034F2397 3/15 Gene3D:2.60.40.10,Pfam:PF13895,PROSITE_profiles:PS50835,PANTHER:PTHR11738,PANTHER:PTHR11738:SF165,SMART:SM00408,SMART:SM00409,Superfamily:SSF48726,CDD:cd05751 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW NA SNV 5 NA NA NA . AGG . 4224.6 NA NA NA NA NA NA NA NA NA 54631552 LILRB1 10859 . GRCh38 chr19 54631594 54631594 + Silent SNP C C G rs201930488 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.273C>G p.Thr91= p.T91= ENST00000427581 3/15 NA NA NA NA NA NA LILRB1,synonymous_variant,p.Thr55=,ENST00000396331,NM_006669.6;LILRB1,synonymous_variant,p.Thr55=,ENST00000396327,NM_001081638.3;LILRB1,synonymous_variant,p.Thr55=,ENST00000396332,NM_001081639.3;LILRB1,synonymous_variant,p.Thr55=,ENST00000324602,NM_001081637.2;LILRB1,synonymous_variant,p.Thr91=,ENST00000427581,;LILRB1,synonymous_variant,p.Thr55=,ENST00000396315,;LILRB1,synonymous_variant,p.Thr55=,ENST00000396317,NM_001278398.2;LILRB1-AS1,downstream_gene_variant,,ENST00000456337,;LILRB1,non_coding_transcript_exon_variant,,ENST00000480257,;LILRB1,upstream_gene_variant,,ENST00000462628,;LILRB1,upstream_gene_variant,,ENST00000473412,;LILRB1,synonymous_variant,p.Thr55=,ENST00000421584,;LILRB1,upstream_gene_variant,,ENST00000480375,;LILRB1,upstream_gene_variant,,ENST00000487425,;,regulatory_region_variant,,ENSR00001026241,; G ENSG00000104972 ENST00000427581 Transcript synonymous_variant 606/2751 273/2106 91/701 T acC/acG rs201930488,COSV100207087 1 NA 1 LILRB1 HGNC HGNC:6605 protein_coding YES ENSP00000395004 F6TER3.64 UPI00034F2397 3/15 Gene3D:2.60.40.10,Pfam:PF13895,PROSITE_profiles:PS50835,PANTHER:PTHR11738,PANTHER:PTHR11738:SF165,SMART:SM00408,SMART:SM00409,Superfamily:SSF48726,CDD:cd05751 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA LOW NA SNV 5 NA 0,1 NA NA . CCC . 7716.6 9.548e-05 0.000123 0.0002025 9.964e-05 NA NA 8.792e-05 0.0004892 3.266e-05 54631594 LILRB1 10859 . GRCh38 chr19 54631605 54631605 + Missense_Mutation SNP G G A rs774715846 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.284G>A p.Arg95His p.R95H ENST00000427581 3/15 NA NA NA NA NA NA LILRB1,missense_variant,p.Arg59His,ENST00000396331,NM_006669.6;LILRB1,missense_variant,p.Arg59His,ENST00000396327,NM_001081638.3;LILRB1,missense_variant,p.Arg59His,ENST00000396332,NM_001081639.3;LILRB1,missense_variant,p.Arg59His,ENST00000324602,NM_001081637.2;LILRB1,missense_variant,p.Arg95His,ENST00000427581,;LILRB1,missense_variant,p.Arg59His,ENST00000396315,;LILRB1,missense_variant,p.Arg59His,ENST00000396317,NM_001278398.2;LILRB1-AS1,downstream_gene_variant,,ENST00000456337,;LILRB1,non_coding_transcript_exon_variant,,ENST00000480257,;LILRB1,upstream_gene_variant,,ENST00000462628,;LILRB1,upstream_gene_variant,,ENST00000473412,;LILRB1,missense_variant,p.Arg59His,ENST00000421584,;LILRB1,upstream_gene_variant,,ENST00000480375,;LILRB1,upstream_gene_variant,,ENST00000487425,; A ENSG00000104972 ENST00000427581 Transcript missense_variant 617/2751 284/2106 95/701 R/H cGt/cAt rs774715846,COSV61116523 1 NA 1 LILRB1 HGNC HGNC:6605 protein_coding YES ENSP00000395004 F6TER3.64 UPI00034F2397 tolerated(1) benign(0.003) 3/15 Gene3D:2.60.40.10,Pfam:PF13895,PROSITE_profiles:PS50835,PANTHER:PTHR11738,PANTHER:PTHR11738:SF165,SMART:SM00408,SMART:SM00409,Superfamily:SSF48726,CDD:cd05751 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE NA SNV 5 NA 0,1 NA NA . CGT . 8122.6 0.0001154 6.153e-05 0.0002314 9.934e-05 NA NA 0.0001143 0.0006521 6.533e-05 54631605 LILRB1 10859 . GRCh38 chr19 54631718 54631718 + Missense_Mutation SNP C C T rs766498638 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.397C>T p.Arg133Cys p.R133C ENST00000427581 3/15 NA NA NA NA NA NA LILRB1,missense_variant,p.Arg97Cys,ENST00000396331,NM_006669.6;LILRB1,missense_variant,p.Arg97Cys,ENST00000396327,NM_001081638.3;LILRB1,missense_variant,p.Arg97Cys,ENST00000396332,NM_001081639.3;LILRB1,missense_variant,p.Arg97Cys,ENST00000324602,NM_001081637.2;LILRB1,missense_variant,p.Arg133Cys,ENST00000427581,;LILRB1,missense_variant,p.Arg97Cys,ENST00000396315,;LILRB1,missense_variant,p.Arg97Cys,ENST00000396317,NM_001278398.2;LILRB1-AS1,downstream_gene_variant,,ENST00000456337,;LILRB1,non_coding_transcript_exon_variant,,ENST00000480257,;LILRB1,upstream_gene_variant,,ENST00000462628,;LILRB1,upstream_gene_variant,,ENST00000473412,;LILRB1,missense_variant,p.Arg97Cys,ENST00000421584,;LILRB1,upstream_gene_variant,,ENST00000480375,;LILRB1,upstream_gene_variant,,ENST00000487425,; T ENSG00000104972 ENST00000427581 Transcript missense_variant 730/2751 397/2106 133/701 R/C Cgc/Tgc rs766498638 1 NA 1 LILRB1 HGNC HGNC:6605 protein_coding YES ENSP00000395004 F6TER3.64 UPI00034F2397 deleterious(0.04) benign(0.17) 3/15 Gene3D:2.60.40.10,Pfam:PF13895,PROSITE_profiles:PS50835,PANTHER:PTHR11738,PANTHER:PTHR11738:SF165,SMART:SM00408,SMART:SM00409,Superfamily:SSF48726,CDD:cd05751 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE NA SNV 5 NA NA NA . TCG . 8591.6 NA NA NA NA NA NA NA NA NA 54631718 LILRB1 10859 . GRCh38 chr19 54631724 54631724 + Missense_Mutation SNP T T A rs570016342 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.403T>A p.Tyr135Asn p.Y135N ENST00000427581 3/15 NA NA NA NA NA NA LILRB1,missense_variant,p.Tyr99Asn,ENST00000396331,NM_006669.6;LILRB1,missense_variant,p.Tyr99Asn,ENST00000396327,NM_001081638.3;LILRB1,missense_variant,p.Tyr99Asn,ENST00000396332,NM_001081639.3;LILRB1,missense_variant,p.Tyr99Asn,ENST00000324602,NM_001081637.2;LILRB1,missense_variant,p.Tyr135Asn,ENST00000427581,;LILRB1,missense_variant,p.Tyr99Asn,ENST00000396315,;LILRB1,missense_variant,p.Tyr99Asn,ENST00000396317,NM_001278398.2;LILRB1-AS1,downstream_gene_variant,,ENST00000456337,;LILRB1,non_coding_transcript_exon_variant,,ENST00000480257,;LILRB1,upstream_gene_variant,,ENST00000462628,;LILRB1,upstream_gene_variant,,ENST00000473412,;LILRB1,missense_variant,p.Tyr99Asn,ENST00000421584,;LILRB1,upstream_gene_variant,,ENST00000480375,;LILRB1,upstream_gene_variant,,ENST00000487425,; A ENSG00000104972 ENST00000427581 Transcript missense_variant 736/2751 403/2106 135/701 Y/N Tac/Aac rs570016342 1 NA 1 LILRB1 HGNC HGNC:6605 protein_coding YES ENSP00000395004 F6TER3.64 UPI00034F2397 deleterious(0.04) benign(0.012) 3/15 Gene3D:2.60.40.10,Pfam:PF13895,PROSITE_profiles:PS50835,PANTHER:PTHR11738,PANTHER:PTHR11738:SF165,SMART:SM00408,SMART:SM00409,Superfamily:SSF48726,CDD:cd05751 2e-04 8e-04 NA NA NA NA NA NA NA NA NA NA NA MODERATE NA SNV 5 NA NA NA . TTA . 8823.6 7.954e-06 0.000123 NA NA NA NA NA NA NA 54631724 LILRB1 10859 . GRCh38 chr19 54631725 54631725 + Missense_Mutation SNP A A T rs535742370 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.404A>T p.Tyr135Phe p.Y135F ENST00000427581 3/15 NA NA NA NA NA NA LILRB1,missense_variant,p.Tyr99Phe,ENST00000396331,NM_006669.6;LILRB1,missense_variant,p.Tyr99Phe,ENST00000396327,NM_001081638.3;LILRB1,missense_variant,p.Tyr99Phe,ENST00000396332,NM_001081639.3;LILRB1,missense_variant,p.Tyr99Phe,ENST00000324602,NM_001081637.2;LILRB1,missense_variant,p.Tyr135Phe,ENST00000427581,;LILRB1,missense_variant,p.Tyr99Phe,ENST00000396315,;LILRB1,missense_variant,p.Tyr99Phe,ENST00000396317,NM_001278398.2;LILRB1-AS1,downstream_gene_variant,,ENST00000456337,;LILRB1,non_coding_transcript_exon_variant,,ENST00000480257,;LILRB1,upstream_gene_variant,,ENST00000462628,;LILRB1,upstream_gene_variant,,ENST00000473412,;LILRB1,missense_variant,p.Tyr99Phe,ENST00000421584,;LILRB1,upstream_gene_variant,,ENST00000480375,;LILRB1,upstream_gene_variant,,ENST00000487425,; T ENSG00000104972 ENST00000427581 Transcript missense_variant 737/2751 404/2106 135/701 Y/F tAc/tTc rs535742370 1 NA 1 LILRB1 HGNC HGNC:6605 protein_coding YES ENSP00000395004 F6TER3.64 UPI00034F2397 deleterious(0.04) benign(0.005) 3/15 Gene3D:2.60.40.10,Pfam:PF13895,PROSITE_profiles:PS50835,PANTHER:PTHR11738,PANTHER:PTHR11738:SF165,SMART:SM00408,SMART:SM00409,Superfamily:SSF48726,CDD:cd05751 2e-04 8e-04 NA NA NA NA NA NA NA NA NA NA NA MODERATE NA SNV 5 NA NA NA . TAC . 8790.6 7.955e-06 0.000123 NA NA NA NA NA NA NA 54631725 LILRB1 10859 . GRCh38 chr19 54631732 54631732 + Silent SNP T T C rs368715947 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.411T>C p.Gly137= p.G137= ENST00000427581 3/15 NA NA NA NA NA NA LILRB1,synonymous_variant,p.Gly101=,ENST00000396331,NM_006669.6;LILRB1,synonymous_variant,p.Gly101=,ENST00000396327,NM_001081638.3;LILRB1,synonymous_variant,p.Gly101=,ENST00000396332,NM_001081639.3;LILRB1,synonymous_variant,p.Gly101=,ENST00000324602,NM_001081637.2;LILRB1,synonymous_variant,p.Gly137=,ENST00000427581,;LILRB1,synonymous_variant,p.Gly101=,ENST00000396315,;LILRB1,synonymous_variant,p.Gly101=,ENST00000396317,NM_001278398.2;LILRB1-AS1,downstream_gene_variant,,ENST00000456337,;LILRB1,non_coding_transcript_exon_variant,,ENST00000480257,;LILRB1,upstream_gene_variant,,ENST00000462628,;LILRB1,upstream_gene_variant,,ENST00000473412,;LILRB1,synonymous_variant,p.Gly101=,ENST00000421584,;LILRB1,upstream_gene_variant,,ENST00000480375,;LILRB1,upstream_gene_variant,,ENST00000487425,; C ENSG00000104972 ENST00000427581 Transcript synonymous_variant 744/2751 411/2106 137/701 G ggT/ggC rs368715947 1 NA 1 LILRB1 HGNC HGNC:6605 protein_coding YES ENSP00000395004 F6TER3.64 UPI00034F2397 3/15 Gene3D:2.60.40.10,Pfam:PF13895,PROSITE_profiles:PS50835,PANTHER:PTHR11738,PANTHER:PTHR11738:SF165,SMART:SM00408,SMART:SM00409,Superfamily:SSF48726,CDD:cd05751 2e-04 8e-04 NA NA NA NA NA 0.000227 0.0001163 NA NA NA NA LOW NA SNV 5 NA NA NA . GTA . 8623.6 3.978e-05 0.000123 2.892e-05 9.936e-05 5.437e-05 NA 3.517e-05 NA 3.266e-05 54631732 LILRB1 10859 . GRCh38 chr19 54631963 54631963 + Silent SNP C C T rs762235922 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.495C>T p.Ala165= p.A165= ENST00000427581 4/15 NA NA NA NA NA NA LILRB1,synonymous_variant,p.Ala129=,ENST00000396331,NM_006669.6;LILRB1,synonymous_variant,p.Ala129=,ENST00000396327,NM_001081638.3;LILRB1,synonymous_variant,p.Ala129=,ENST00000396332,NM_001081639.3;LILRB1,synonymous_variant,p.Ala129=,ENST00000324602,NM_001081637.2;LILRB1,synonymous_variant,p.Ala165=,ENST00000427581,;LILRB1,synonymous_variant,p.Ala129=,ENST00000396315,;LILRB1,synonymous_variant,p.Ala129=,ENST00000396317,NM_001278398.2;LILRB1-AS1,downstream_gene_variant,,ENST00000456337,;LILRB1,non_coding_transcript_exon_variant,,ENST00000480257,;LILRB1,upstream_gene_variant,,ENST00000462628,;LILRB1,upstream_gene_variant,,ENST00000473412,;LILRB1,synonymous_variant,p.Ala129=,ENST00000421584,;LILRB1,upstream_gene_variant,,ENST00000480375,;LILRB1,upstream_gene_variant,,ENST00000487425,; T ENSG00000104972 ENST00000427581 Transcript synonymous_variant 828/2751 495/2106 165/701 A gcC/gcT rs762235922 1 NA 1 LILRB1 HGNC HGNC:6605 protein_coding YES ENSP00000395004 F6TER3.64 UPI00034F2397 4/15 Gene3D:2.60.40.10,PANTHER:PTHR11738,PANTHER:PTHR11738:SF165,Superfamily:SSF48726 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW NA SNV 5 NA NA NA . CCC . 6014.6 3.979e-06 NA NA NA NA NA 8.799e-06 NA NA 54631963 LILRB1 10859 . GRCh38 chr19 54631965 54631965 + Missense_Mutation SNP A A T rs767704704 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.497A>T p.Gln166Leu p.Q166L ENST00000427581 4/15 NA NA NA NA NA NA LILRB1,missense_variant,p.Gln130Leu,ENST00000396331,NM_006669.6;LILRB1,missense_variant,p.Gln130Leu,ENST00000396327,NM_001081638.3;LILRB1,missense_variant,p.Gln130Leu,ENST00000396332,NM_001081639.3;LILRB1,missense_variant,p.Gln130Leu,ENST00000324602,NM_001081637.2;LILRB1,missense_variant,p.Gln166Leu,ENST00000427581,;LILRB1,missense_variant,p.Gln130Leu,ENST00000396315,;LILRB1,missense_variant,p.Gln130Leu,ENST00000396317,NM_001278398.2;LILRB1-AS1,downstream_gene_variant,,ENST00000456337,;LILRB1,non_coding_transcript_exon_variant,,ENST00000480257,;LILRB1,upstream_gene_variant,,ENST00000462628,;LILRB1,upstream_gene_variant,,ENST00000473412,;LILRB1,missense_variant,p.Gln130Leu,ENST00000421584,;LILRB1,upstream_gene_variant,,ENST00000480375,;LILRB1,upstream_gene_variant,,ENST00000487425,; T ENSG00000104972 ENST00000427581 Transcript missense_variant 830/2751 497/2106 166/701 Q/L cAg/cTg rs767704704 1 NA 1 LILRB1 HGNC HGNC:6605 protein_coding YES ENSP00000395004 F6TER3.64 UPI00034F2397 tolerated(1) benign(0) 4/15 Gene3D:2.60.40.10,PANTHER:PTHR11738,PANTHER:PTHR11738:SF165,SMART:SM00409,Superfamily:SSF48726 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE NA SNV 5 NA NA NA . CAG . 6268.6 3.979e-06 NA NA NA NA NA 8.798e-06 NA NA 54631965 LILRB1 10859 . GRCh38 chr19 54631975 54631975 + Silent SNP C C T rs758193328 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.507C>T p.Pro169= p.P169= ENST00000427581 4/15 NA NA NA NA NA NA LILRB1,synonymous_variant,p.Pro133=,ENST00000396331,NM_006669.6;LILRB1,synonymous_variant,p.Pro133=,ENST00000396327,NM_001081638.3;LILRB1,synonymous_variant,p.Pro133=,ENST00000396332,NM_001081639.3;LILRB1,synonymous_variant,p.Pro133=,ENST00000324602,NM_001081637.2;LILRB1,synonymous_variant,p.Pro169=,ENST00000427581,;LILRB1,synonymous_variant,p.Pro133=,ENST00000396315,;LILRB1,synonymous_variant,p.Pro133=,ENST00000396317,NM_001278398.2;LILRB1-AS1,downstream_gene_variant,,ENST00000456337,;LILRB1,non_coding_transcript_exon_variant,,ENST00000480257,;LILRB1,upstream_gene_variant,,ENST00000462628,;LILRB1,upstream_gene_variant,,ENST00000473412,;LILRB1,synonymous_variant,p.Pro133=,ENST00000421584,;LILRB1,upstream_gene_variant,,ENST00000480375,;LILRB1,upstream_gene_variant,,ENST00000487425,; T ENSG00000104972 ENST00000427581 Transcript synonymous_variant 840/2751 507/2106 169/701 P ccC/ccT rs758193328 1 NA 1 LILRB1 HGNC HGNC:6605 protein_coding YES ENSP00000395004 F6TER3.64 UPI00034F2397 4/15 Gene3D:2.60.40.10,PANTHER:PTHR11738,PANTHER:PTHR11738:SF165,SMART:SM00409,Superfamily:SSF48726 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW NA SNV 5 NA NA NA . CCG . 6945.6 3.978e-06 NA NA NA NA NA 8.795e-06 NA NA 54631975 LILRB1 10859 . GRCh38 chr19 54631983 54631983 + Missense_Mutation SNP A A C rs758173207 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.515A>C p.Asn172Thr p.N172T ENST00000427581 4/15 NA NA NA NA NA NA LILRB1,missense_variant,p.Asn136Thr,ENST00000396331,NM_006669.6;LILRB1,missense_variant,p.Asn136Thr,ENST00000396327,NM_001081638.3;LILRB1,missense_variant,p.Asn136Thr,ENST00000396332,NM_001081639.3;LILRB1,missense_variant,p.Asn136Thr,ENST00000324602,NM_001081637.2;LILRB1,missense_variant,p.Asn172Thr,ENST00000427581,;LILRB1,missense_variant,p.Asn136Thr,ENST00000396315,;LILRB1,missense_variant,p.Asn136Thr,ENST00000396317,NM_001278398.2;LILRB1-AS1,downstream_gene_variant,,ENST00000456337,;LILRB1,non_coding_transcript_exon_variant,,ENST00000480257,;LILRB1,upstream_gene_variant,,ENST00000462628,;LILRB1,upstream_gene_variant,,ENST00000473412,;LILRB1,missense_variant,p.Asn136Thr,ENST00000421584,;LILRB1,upstream_gene_variant,,ENST00000480375,;LILRB1,upstream_gene_variant,,ENST00000487425,; C ENSG00000104972 ENST00000427581 Transcript missense_variant 848/2751 515/2106 172/701 N/T aAc/aCc rs758173207 1 NA 1 LILRB1 HGNC HGNC:6605 protein_coding YES ENSP00000395004 F6TER3.64 UPI00034F2397 tolerated(1) benign(0) 4/15 Gene3D:2.60.40.10,PANTHER:PTHR11738,PANTHER:PTHR11738:SF165,SMART:SM00409,Superfamily:SSF48726 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE NA SNV 5 NA NA NA . AAC . 7191.6 2.572e-05 NA NA NA NA NA NA NA 0.0002017 54631983 LILRB1 10859 . GRCh38 chr19 54631999 54631999 + Silent SNP A A G rs200621657 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.531A>G p.Val177= p.V177= ENST00000427581 4/15 NA NA NA NA NA NA LILRB1,synonymous_variant,p.Val141=,ENST00000396331,NM_006669.6;LILRB1,synonymous_variant,p.Val141=,ENST00000396327,NM_001081638.3;LILRB1,synonymous_variant,p.Val141=,ENST00000396332,NM_001081639.3;LILRB1,synonymous_variant,p.Val141=,ENST00000324602,NM_001081637.2;LILRB1,synonymous_variant,p.Val177=,ENST00000427581,;LILRB1,synonymous_variant,p.Val141=,ENST00000396315,;LILRB1,synonymous_variant,p.Val141=,ENST00000396317,NM_001278398.2;LILRB1-AS1,downstream_gene_variant,,ENST00000456337,;LILRB1,non_coding_transcript_exon_variant,,ENST00000480257,;LILRB1,upstream_gene_variant,,ENST00000462628,;LILRB1,upstream_gene_variant,,ENST00000473412,;LILRB1,synonymous_variant,p.Val141=,ENST00000421584,;LILRB1,upstream_gene_variant,,ENST00000480375,;LILRB1,upstream_gene_variant,,ENST00000487425,; G ENSG00000104972 ENST00000427581 Transcript synonymous_variant 864/2751 531/2106 177/701 V gtA/gtG rs200621657 1 NA 1 LILRB1 HGNC HGNC:6605 protein_coding YES ENSP00000395004 F6TER3.64 UPI00034F2397 4/15 Gene3D:2.60.40.10,PANTHER:PTHR11738,PANTHER:PTHR11738:SF165,SMART:SM00409,Superfamily:SSF48726 2e-04 8e-04 NA NA NA NA NA 0.0004539 0.0002326 NA NA NA NA LOW NA SNV 5 NA NA NA . TAA . 8340.6 1.285e-05 NA 3.347e-05 NA NA 5.038e-05 NA 0.0001702 NA 54631999 LILRB1 10859 . GRCh38 chr19 54632003 54632003 + Missense_Mutation SNP C C A rs539532545 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.535C>A p.Leu179Ile p.L179I ENST00000427581 4/15 NA NA NA NA NA NA LILRB1,missense_variant,p.Leu143Ile,ENST00000396331,NM_006669.6;LILRB1,missense_variant,p.Leu143Ile,ENST00000396327,NM_001081638.3;LILRB1,missense_variant,p.Leu143Ile,ENST00000396332,NM_001081639.3;LILRB1,missense_variant,p.Leu143Ile,ENST00000324602,NM_001081637.2;LILRB1,missense_variant,p.Leu179Ile,ENST00000427581,;LILRB1,missense_variant,p.Leu143Ile,ENST00000396315,;LILRB1,missense_variant,p.Leu143Ile,ENST00000396317,NM_001278398.2;LILRB1-AS1,downstream_gene_variant,,ENST00000456337,;LILRB1,non_coding_transcript_exon_variant,,ENST00000480257,;LILRB1,upstream_gene_variant,,ENST00000462628,;LILRB1,upstream_gene_variant,,ENST00000473412,;LILRB1,missense_variant,p.Leu143Ile,ENST00000421584,;LILRB1,upstream_gene_variant,,ENST00000480375,;LILRB1,upstream_gene_variant,,ENST00000487425,; A ENSG00000104972 ENST00000427581 Transcript missense_variant 868/2751 535/2106 179/701 L/I Ctc/Atc rs539532545 1 NA 1 LILRB1 HGNC HGNC:6605 protein_coding YES ENSP00000395004 F6TER3.64 UPI00034F2397 deleterious(0.02) benign(0.418) 4/15 Gene3D:2.60.40.10,PANTHER:PTHR11738,PANTHER:PTHR11738:SF165,SMART:SM00409,Superfamily:SSF48726 2e-04 8e-04 NA NA NA NA NA NA NA NA NA NA NA MODERATE NA SNV 5 NA NA NA . CCT . 7985.6 3e-05 6.197e-05 3.349e-05 NA 7.666e-05 5.037e-05 9.185e-06 0.0003405 NA 54632003 LILRB1 10859 . GRCh38 chr19 54632089 54632089 + Missense_Mutation SNP G G T rs749158954 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.621G>T p.Gln207His p.Q207H ENST00000427581 4/15 NA NA NA NA NA NA LILRB1,missense_variant,p.Gln171His,ENST00000396331,NM_006669.6;LILRB1,missense_variant,p.Gln171His,ENST00000396327,NM_001081638.3;LILRB1,missense_variant,p.Gln171His,ENST00000396332,NM_001081639.3;LILRB1,missense_variant,p.Gln171His,ENST00000324602,NM_001081637.2;LILRB1,missense_variant,p.Gln207His,ENST00000427581,;LILRB1,missense_variant,p.Gln171His,ENST00000396315,;LILRB1,missense_variant,p.Gln171His,ENST00000396317,NM_001278398.2;LILRB1-AS1,downstream_gene_variant,,ENST00000456337,;LILRB1,upstream_gene_variant,,ENST00000462628,;LILRB1,upstream_gene_variant,,ENST00000473412,;LILRB1,downstream_gene_variant,,ENST00000480257,;LILRB1,missense_variant,p.Gln171His,ENST00000421584,;LILRB1,upstream_gene_variant,,ENST00000480375,;LILRB1,upstream_gene_variant,,ENST00000487425,; T ENSG00000104972 ENST00000427581 Transcript missense_variant 954/2751 621/2106 207/701 Q/H caG/caT rs749158954,COSV61115953 1 NA 1 LILRB1 HGNC HGNC:6605 protein_coding YES ENSP00000395004 F6TER3.64 UPI00034F2397 tolerated(0.1) benign(0.055) 4/15 Gene3D:2.60.40.10,PANTHER:PTHR11738,PANTHER:PTHR11738:SF165,SMART:SM00409,Superfamily:SSF48726 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE NA SNV 5 NA 0,1 NA NA . AGC . 7329.6 1.193e-05 6.152e-05 NA NA NA 4.619e-05 8.79e-06 NA NA 54632089 LILRB1 10859 . GRCh38 chr19 54632090 54632090 + Missense_Mutation SNP C C T rs768734027 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.622C>T p.Pro208Ser p.P208S ENST00000427581 4/15 NA NA NA NA NA NA LILRB1,missense_variant,p.Pro172Ser,ENST00000396331,NM_006669.6;LILRB1,missense_variant,p.Pro172Ser,ENST00000396327,NM_001081638.3;LILRB1,missense_variant,p.Pro172Ser,ENST00000396332,NM_001081639.3;LILRB1,missense_variant,p.Pro172Ser,ENST00000324602,NM_001081637.2;LILRB1,missense_variant,p.Pro208Ser,ENST00000427581,;LILRB1,missense_variant,p.Pro172Ser,ENST00000396315,;LILRB1,missense_variant,p.Pro172Ser,ENST00000396317,NM_001278398.2;LILRB1-AS1,downstream_gene_variant,,ENST00000456337,;LILRB1,upstream_gene_variant,,ENST00000462628,;LILRB1,upstream_gene_variant,,ENST00000473412,;LILRB1,downstream_gene_variant,,ENST00000480257,;LILRB1,missense_variant,p.Pro172Ser,ENST00000421584,;LILRB1,upstream_gene_variant,,ENST00000480375,;LILRB1,upstream_gene_variant,,ENST00000487425,; T ENSG00000104972 ENST00000427581 Transcript missense_variant 955/2751 622/2106 208/701 P/S Ccc/Tcc rs768734027 1 NA 1 LILRB1 HGNC HGNC:6605 protein_coding YES ENSP00000395004 F6TER3.64 UPI00034F2397 tolerated(0.48) benign(0.007) 4/15 Gene3D:2.60.40.10,PANTHER:PTHR11738,PANTHER:PTHR11738:SF165,SMART:SM00409,Superfamily:SSF48726 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE NA SNV 5 NA NA NA . GCC . 7319.6 1.193e-05 6.152e-05 NA NA NA 4.619e-05 8.79e-06 NA NA 54632090 LILRB1 10859 . GRCh38 chr19 54632113 54632113 + Silent SNP C C G rs532278161 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.645C>G p.Arg215= p.R215= ENST00000427581 4/15 NA NA NA NA NA NA LILRB1,synonymous_variant,p.Arg179=,ENST00000396331,NM_006669.6;LILRB1,synonymous_variant,p.Arg179=,ENST00000396327,NM_001081638.3;LILRB1,synonymous_variant,p.Arg179=,ENST00000396332,NM_001081639.3;LILRB1,synonymous_variant,p.Arg179=,ENST00000324602,NM_001081637.2;LILRB1,synonymous_variant,p.Arg215=,ENST00000427581,;LILRB1,synonymous_variant,p.Arg179=,ENST00000396315,;LILRB1,synonymous_variant,p.Arg179=,ENST00000396317,NM_001278398.2;LILRB1-AS1,downstream_gene_variant,,ENST00000456337,;LILRB1,upstream_gene_variant,,ENST00000462628,;LILRB1,upstream_gene_variant,,ENST00000473412,;LILRB1,downstream_gene_variant,,ENST00000480257,;LILRB1,synonymous_variant,p.Arg179=,ENST00000421584,;LILRB1,upstream_gene_variant,,ENST00000480375,;LILRB1,upstream_gene_variant,,ENST00000487425,; G ENSG00000104972 ENST00000427581 Transcript synonymous_variant 978/2751 645/2106 215/701 R cgC/cgG rs532278161,COSV61116438 1 NA 1 LILRB1 HGNC HGNC:6605 protein_coding YES ENSP00000395004 F6TER3.64 UPI00034F2397 4/15 Gene3D:2.60.40.10,PANTHER:PTHR11738,PANTHER:PTHR11738:SF165,SMART:SM00409,Superfamily:SSF48726 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA LOW NA SNV 5 NA 0,1 NA NA . GCG . 6459.6 7.953e-06 6.152e-05 NA NA NA NA 8.79e-06 NA NA 54632113 LILRB1 10859 . GRCh38 chr19 54632143 54632143 + Silent SNP G G A rs773969571 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.675G>A p.Pro225= p.P225= ENST00000427581 4/15 NA NA NA NA NA NA LILRB1,synonymous_variant,p.Pro189=,ENST00000396331,NM_006669.6;LILRB1,synonymous_variant,p.Pro189=,ENST00000396327,NM_001081638.3;LILRB1,synonymous_variant,p.Pro189=,ENST00000396332,NM_001081639.3;LILRB1,synonymous_variant,p.Pro189=,ENST00000324602,NM_001081637.2;LILRB1,synonymous_variant,p.Pro225=,ENST00000427581,;LILRB1,synonymous_variant,p.Pro189=,ENST00000396315,;LILRB1,synonymous_variant,p.Pro189=,ENST00000396317,NM_001278398.2;LILRB1-AS1,downstream_gene_variant,,ENST00000456337,;LILRB1,upstream_gene_variant,,ENST00000462628,;LILRB1,upstream_gene_variant,,ENST00000473412,;LILRB1,downstream_gene_variant,,ENST00000480257,;LILRB1,synonymous_variant,p.Pro189=,ENST00000421584,;LILRB1,upstream_gene_variant,,ENST00000480375,;LILRB1,upstream_gene_variant,,ENST00000487425,; A ENSG00000104972 ENST00000427581 Transcript synonymous_variant 1008/2751 675/2106 225/701 P ccG/ccA rs773969571,COSV61120505 1 NA 1 LILRB1 HGNC HGNC:6605 protein_coding YES ENSP00000395004 F6TER3.64 UPI00034F2397 4/15 Gene3D:2.60.40.10,PANTHER:PTHR11738,PANTHER:PTHR11738:SF165,SMART:SM00409,Superfamily:SSF48726 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA LOW NA SNV 5 NA 0,1 NA NA . CGA . 1877.6 5.169e-05 NA NA NA 0.0001631 NA 6.153e-05 0.0001629 6.533e-05 54632143 LILRB1 10859 . GRCh38 chr19 54632157 54632157 + Missense_Mutation SNP G G C rs559801888 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.689G>C p.Trp230Ser p.W230S ENST00000427581 4/15 NA NA NA NA NA NA LILRB1,missense_variant,p.Trp194Ser,ENST00000396331,NM_006669.6;LILRB1,missense_variant,p.Trp194Ser,ENST00000396327,NM_001081638.3;LILRB1,missense_variant,p.Trp194Ser,ENST00000396332,NM_001081639.3;LILRB1,missense_variant,p.Trp194Ser,ENST00000324602,NM_001081637.2;LILRB1,missense_variant,p.Trp230Ser,ENST00000427581,;LILRB1,missense_variant,p.Trp194Ser,ENST00000396315,;LILRB1,missense_variant,p.Trp194Ser,ENST00000396317,NM_001278398.2;LILRB1-AS1,downstream_gene_variant,,ENST00000456337,;LILRB1,upstream_gene_variant,,ENST00000462628,;LILRB1,upstream_gene_variant,,ENST00000473412,;LILRB1,downstream_gene_variant,,ENST00000480257,;LILRB1,missense_variant,p.Trp194Ser,ENST00000421584,;LILRB1,upstream_gene_variant,,ENST00000480375,;LILRB1,upstream_gene_variant,,ENST00000487425,; C ENSG00000104972 ENST00000427581 Transcript missense_variant 1022/2751 689/2106 230/701 W/S tGg/tCg rs559801888 1 NA 1 LILRB1 HGNC HGNC:6605 protein_coding YES ENSP00000395004 F6TER3.64 UPI00034F2397 tolerated(0.21) benign(0) 4/15 Gene3D:2.60.40.10,PANTHER:PTHR11738,PANTHER:PTHR11738:SF165,SMART:SM00409,Superfamily:SSF48726 2e-04 8e-04 NA NA NA NA NA NA NA NA NA NA NA MODERATE NA SNV 5 NA NA NA . TGG . 866.6 3.579e-05 0.000123 NA 9.923e-05 5.437e-05 NA 2.637e-05 0.0001629 3.266e-05 54632157 LILRB1 10859 . GRCh38 chr19 54633021 54633021 + Missense_Mutation SNP T T A rs747364263 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1072T>A p.Phe358Ile p.F358I ENST00000427581 6/15 NA NA NA NA NA NA LILRB1,missense_variant,p.Phe322Ile,ENST00000396331,NM_006669.6;LILRB1,missense_variant,p.Phe322Ile,ENST00000396327,NM_001081638.3;LILRB1,missense_variant,p.Phe322Ile,ENST00000396332,NM_001081639.3;LILRB1,missense_variant,p.Phe322Ile,ENST00000324602,NM_001081637.2;LILRB1,missense_variant,p.Phe358Ile,ENST00000427581,;LILRB1,missense_variant,p.Phe322Ile,ENST00000396315,;LILRB1,missense_variant,p.Phe322Ile,ENST00000396317,NM_001278398.2;LILRB1-AS1,downstream_gene_variant,,ENST00000456337,;LILRB1,upstream_gene_variant,,ENST00000462628,;LILRB1,upstream_gene_variant,,ENST00000473412,;LILRB1,downstream_gene_variant,,ENST00000480257,;LILRB1,missense_variant,p.Phe322Ile,ENST00000421584,;LILRB1,upstream_gene_variant,,ENST00000480375,;LILRB1,upstream_gene_variant,,ENST00000487425,; A ENSG00000104972 ENST00000427581 Transcript missense_variant 1405/2751 1072/2106 358/701 F/I Ttc/Atc rs747364263 1 NA 1 LILRB1 HGNC HGNC:6605 protein_coding YES ENSP00000395004 F6TER3.64 UPI00034F2397 tolerated(0.33) benign(0.003) 6/15 Gene3D:2.60.40.10,PROSITE_profiles:PS50835,PANTHER:PTHR11738,PANTHER:PTHR11738:SF165 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE NA SNV 5 NA NA NA . GTT . 728.6 1.198e-05 NA NA NA NA NA NA NA 9.808e-05 54633021 LILRB1 10859 . GRCh38 chr19 54633024 54633024 + Missense_Mutation SNP T T C rs1343744228 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1075T>C p.Tyr359His p.Y359H ENST00000427581 6/15 NA NA NA NA NA NA LILRB1,missense_variant,p.Tyr323His,ENST00000396331,NM_006669.6;LILRB1,missense_variant,p.Tyr323His,ENST00000396327,NM_001081638.3;LILRB1,missense_variant,p.Tyr323His,ENST00000396332,NM_001081639.3;LILRB1,missense_variant,p.Tyr323His,ENST00000324602,NM_001081637.2;LILRB1,missense_variant,p.Tyr359His,ENST00000427581,;LILRB1,missense_variant,p.Tyr323His,ENST00000396315,;LILRB1,missense_variant,p.Tyr323His,ENST00000396317,NM_001278398.2;LILRB1-AS1,downstream_gene_variant,,ENST00000456337,;LILRB1,upstream_gene_variant,,ENST00000462628,;LILRB1,upstream_gene_variant,,ENST00000473412,;LILRB1,downstream_gene_variant,,ENST00000480257,;LILRB1,missense_variant,p.Tyr323His,ENST00000421584,;LILRB1,upstream_gene_variant,,ENST00000480375,;LILRB1,upstream_gene_variant,,ENST00000487425,; C ENSG00000104972 ENST00000427581 Transcript missense_variant 1408/2751 1075/2106 359/701 Y/H Tat/Cat rs1343744228 1 NA 1 LILRB1 HGNC HGNC:6605 protein_coding YES ENSP00000395004 F6TER3.64 UPI00034F2397 tolerated(0.2) benign(0.003) 6/15 Gene3D:2.60.40.10,PROSITE_profiles:PS50835,PANTHER:PTHR11738,PANTHER:PTHR11738:SF165,Superfamily:SSF48726 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE NA SNV 5 NA NA NA . CTA . 905.6 NA NA NA NA NA NA NA NA NA 54633024 LILRB1 10859 . GRCh38 chr19 54633025 54633025 + Missense_Mutation SNP A A G rs1346206297 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1076A>G p.Tyr359Cys p.Y359C ENST00000427581 6/15 NA NA NA NA NA NA LILRB1,missense_variant,p.Tyr323Cys,ENST00000396331,NM_006669.6;LILRB1,missense_variant,p.Tyr323Cys,ENST00000396327,NM_001081638.3;LILRB1,missense_variant,p.Tyr323Cys,ENST00000396332,NM_001081639.3;LILRB1,missense_variant,p.Tyr323Cys,ENST00000324602,NM_001081637.2;LILRB1,missense_variant,p.Tyr359Cys,ENST00000427581,;LILRB1,missense_variant,p.Tyr323Cys,ENST00000396315,;LILRB1,missense_variant,p.Tyr323Cys,ENST00000396317,NM_001278398.2;LILRB1-AS1,downstream_gene_variant,,ENST00000456337,;LILRB1,upstream_gene_variant,,ENST00000462628,;LILRB1,upstream_gene_variant,,ENST00000473412,;LILRB1,downstream_gene_variant,,ENST00000480257,;LILRB1,missense_variant,p.Tyr323Cys,ENST00000421584,;LILRB1,upstream_gene_variant,,ENST00000480375,;LILRB1,upstream_gene_variant,,ENST00000487425,; G ENSG00000104972 ENST00000427581 Transcript missense_variant 1409/2751 1076/2106 359/701 Y/C tAt/tGt rs1346206297 1 NA 1 LILRB1 HGNC HGNC:6605 protein_coding YES ENSP00000395004 F6TER3.64 UPI00034F2397 deleterious(0.05) possibly_damaging(0.732) 6/15 Gene3D:2.60.40.10,PROSITE_profiles:PS50835,PANTHER:PTHR11738,PANTHER:PTHR11738:SF165,Superfamily:SSF48726 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE NA SNV 5 NA NA NA . TAT . 920.6 NA NA NA NA NA NA NA NA NA 54633025 LILRB1 10859 . GRCh38 chr19 54633028 54633028 + Missense_Mutation SNP A A C rs372382780 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1079A>C p.Asp360Ala p.D360A ENST00000427581 6/15 NA NA NA NA NA NA LILRB1,missense_variant,p.Asp324Ala,ENST00000396331,NM_006669.6;LILRB1,missense_variant,p.Asp324Ala,ENST00000396327,NM_001081638.3;LILRB1,missense_variant,p.Asp324Ala,ENST00000396332,NM_001081639.3;LILRB1,missense_variant,p.Asp324Ala,ENST00000324602,NM_001081637.2;LILRB1,missense_variant,p.Asp360Ala,ENST00000427581,;LILRB1,missense_variant,p.Asp324Ala,ENST00000396315,;LILRB1,missense_variant,p.Asp324Ala,ENST00000396317,NM_001278398.2;LILRB1-AS1,downstream_gene_variant,,ENST00000456337,;LILRB1,upstream_gene_variant,,ENST00000462628,;LILRB1,upstream_gene_variant,,ENST00000473412,;LILRB1,downstream_gene_variant,,ENST00000480257,;LILRB1,missense_variant,p.Asp324Ala,ENST00000421584,;LILRB1,upstream_gene_variant,,ENST00000480375,;LILRB1,upstream_gene_variant,,ENST00000487425,; C ENSG00000104972 ENST00000427581 Transcript missense_variant 1412/2751 1079/2106 360/701 D/A gAc/gCc rs372382780 1 NA 1 LILRB1 HGNC HGNC:6605 protein_coding YES ENSP00000395004 F6TER3.64 UPI00034F2397 tolerated(0.46) benign(0.009) 6/15 Gene3D:2.60.40.10,PROSITE_profiles:PS50835,PANTHER:PTHR11738,PANTHER:PTHR11738:SF165,Superfamily:SSF48726 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE NA SNV 5 NA NA NA . GAC . 1064.6 NA NA NA NA NA NA NA NA NA 54633028 LILRB1 10859 . GRCh38 chr19 54633033 54633033 + Missense_Mutation SNP G G C rs1185911260 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1084G>C p.Val362Leu p.V362L ENST00000427581 6/15 NA NA NA NA NA NA LILRB1,missense_variant,p.Val326Leu,ENST00000396331,NM_006669.6;LILRB1,missense_variant,p.Val326Leu,ENST00000396327,NM_001081638.3;LILRB1,missense_variant,p.Val326Leu,ENST00000396332,NM_001081639.3;LILRB1,missense_variant,p.Val326Leu,ENST00000324602,NM_001081637.2;LILRB1,missense_variant,p.Val362Leu,ENST00000427581,;LILRB1,missense_variant,p.Val326Leu,ENST00000396315,;LILRB1,missense_variant,p.Val326Leu,ENST00000396317,NM_001278398.2;LILRB1-AS1,downstream_gene_variant,,ENST00000456337,;LILRB1,upstream_gene_variant,,ENST00000462628,;LILRB1,upstream_gene_variant,,ENST00000473412,;LILRB1,downstream_gene_variant,,ENST00000480257,;LILRB1,missense_variant,p.Val326Leu,ENST00000421584,;LILRB1,upstream_gene_variant,,ENST00000480375,;LILRB1,upstream_gene_variant,,ENST00000487425,; C ENSG00000104972 ENST00000427581 Transcript missense_variant 1417/2751 1084/2106 362/701 V/L Gtc/Ctc rs1185911260 1 NA 1 LILRB1 HGNC HGNC:6605 protein_coding YES ENSP00000395004 F6TER3.64 UPI00034F2397 deleterious(0.02) benign(0.018) 6/15 Gene3D:2.60.40.10,PROSITE_profiles:PS50835,PANTHER:PTHR11738,PANTHER:PTHR11738:SF165,Superfamily:SSF48726 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE NA SNV 5 NA NA NA . AGT . 1250.6 NA NA NA NA NA NA NA NA NA 54633033 LILRB1 10859 . GRCh38 chr19 54633034 54633034 + Missense_Mutation SNP T T C rs1486166961 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1085T>C p.Val362Ala p.V362A ENST00000427581 6/15 NA NA NA NA NA NA LILRB1,missense_variant,p.Val326Ala,ENST00000396331,NM_006669.6;LILRB1,missense_variant,p.Val326Ala,ENST00000396327,NM_001081638.3;LILRB1,missense_variant,p.Val326Ala,ENST00000396332,NM_001081639.3;LILRB1,missense_variant,p.Val326Ala,ENST00000324602,NM_001081637.2;LILRB1,missense_variant,p.Val362Ala,ENST00000427581,;LILRB1,missense_variant,p.Val326Ala,ENST00000396315,;LILRB1,missense_variant,p.Val326Ala,ENST00000396317,NM_001278398.2;LILRB1-AS1,downstream_gene_variant,,ENST00000456337,;LILRB1,upstream_gene_variant,,ENST00000462628,;LILRB1,upstream_gene_variant,,ENST00000473412,;LILRB1,downstream_gene_variant,,ENST00000480257,;LILRB1,missense_variant,p.Val326Ala,ENST00000421584,;LILRB1,upstream_gene_variant,,ENST00000480375,;LILRB1,upstream_gene_variant,,ENST00000487425,; C ENSG00000104972 ENST00000427581 Transcript missense_variant 1418/2751 1085/2106 362/701 V/A gTc/gCc rs1486166961 1 NA 1 LILRB1 HGNC HGNC:6605 protein_coding YES ENSP00000395004 F6TER3.64 UPI00034F2397 deleterious(0.03) benign(0.051) 6/15 Gene3D:2.60.40.10,PROSITE_profiles:PS50835,PANTHER:PTHR11738,PANTHER:PTHR11738:SF165,Superfamily:SSF48726 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE NA SNV 5 NA NA NA . GTC . 1355.6 NA NA NA NA NA NA NA NA NA 54633034 LILRB1 10859 . GRCh38 chr19 54633037 54633037 + Missense_Mutation SNP C C T rs974205214 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1088C>T p.Ser363Phe p.S363F ENST00000427581 6/15 NA NA NA NA NA NA LILRB1,missense_variant,p.Ser327Phe,ENST00000396331,NM_006669.6;LILRB1,missense_variant,p.Ser327Phe,ENST00000396327,NM_001081638.3;LILRB1,missense_variant,p.Ser327Phe,ENST00000396332,NM_001081639.3;LILRB1,missense_variant,p.Ser327Phe,ENST00000324602,NM_001081637.2;LILRB1,missense_variant,p.Ser363Phe,ENST00000427581,;LILRB1,missense_variant,p.Ser327Phe,ENST00000396315,;LILRB1,missense_variant,p.Ser327Phe,ENST00000396317,NM_001278398.2;LILRB1-AS1,downstream_gene_variant,,ENST00000456337,;LILRB1,upstream_gene_variant,,ENST00000462628,;LILRB1,upstream_gene_variant,,ENST00000473412,;LILRB1,downstream_gene_variant,,ENST00000480257,;LILRB1,missense_variant,p.Ser327Phe,ENST00000421584,;LILRB1,upstream_gene_variant,,ENST00000480375,;LILRB1,upstream_gene_variant,,ENST00000487425,; T ENSG00000104972 ENST00000427581 Transcript missense_variant 1421/2751 1088/2106 363/701 S/F tCc/tTc rs974205214 1 NA 1 LILRB1 HGNC HGNC:6605 protein_coding YES ENSP00000395004 F6TER3.64 UPI00034F2397 tolerated(0.13) benign(0.078) 6/15 Gene3D:2.60.40.10,PROSITE_profiles:PS50835,PANTHER:PTHR11738,PANTHER:PTHR11738:SF165,Superfamily:SSF48726 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE NA SNV 5 NA NA NA . TCC . 2560.6 3.986e-06 NA NA NA NA NA NA NA 3.267e-05 54633037 LILRB1 10859 . GRCh38 chr19 54633044 54633044 + Silent SNP G G C rs12986297 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1095G>C p.Ser365= p.S365= ENST00000427581 6/15 NA NA NA NA NA NA LILRB1,synonymous_variant,p.Ser329=,ENST00000396331,NM_006669.6;LILRB1,synonymous_variant,p.Ser329=,ENST00000396327,NM_001081638.3;LILRB1,synonymous_variant,p.Ser329=,ENST00000396332,NM_001081639.3;LILRB1,synonymous_variant,p.Ser329=,ENST00000324602,NM_001081637.2;LILRB1,synonymous_variant,p.Ser365=,ENST00000427581,;LILRB1,synonymous_variant,p.Ser329=,ENST00000396315,;LILRB1,synonymous_variant,p.Ser329=,ENST00000396317,NM_001278398.2;LILRB1-AS1,downstream_gene_variant,,ENST00000456337,;LILRB1,upstream_gene_variant,,ENST00000462628,;LILRB1,upstream_gene_variant,,ENST00000473412,;LILRB1,downstream_gene_variant,,ENST00000480257,;LILRB1,synonymous_variant,p.Ser329=,ENST00000421584,;LILRB1,upstream_gene_variant,,ENST00000480375,;LILRB1,upstream_gene_variant,,ENST00000487425,; C ENSG00000104972 ENST00000427581 Transcript synonymous_variant 1428/2751 1095/2106 365/701 S tcG/tcC rs12986297 1 NA 1 LILRB1 HGNC HGNC:6605 protein_coding YES ENSP00000395004 F6TER3.64 UPI00034F2397 6/15 Gene3D:2.60.40.10,PROSITE_profiles:PS50835,PANTHER:PTHR11738,PANTHER:PTHR11738:SF165,Superfamily:SSF48726 4e-04 0.0015 NA NA NA NA NA NA NA NA NA NA NA LOW NA SNV 5 NA NA NA . CGG . 2710.6 7.968e-06 0.0001238 NA NA NA NA NA NA NA 54633044 LILRB1 10859 . GRCh38 chr19 54633049 54633049 + Missense_Mutation SNP A A G rs1334566399 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1100A>G p.Gln367Arg p.Q367R ENST00000427581 6/15 NA NA NA NA NA NA LILRB1,missense_variant,p.Gln331Arg,ENST00000396331,NM_006669.6;LILRB1,missense_variant,p.Gln331Arg,ENST00000396327,NM_001081638.3;LILRB1,missense_variant,p.Gln331Arg,ENST00000396332,NM_001081639.3;LILRB1,missense_variant,p.Gln331Arg,ENST00000324602,NM_001081637.2;LILRB1,missense_variant,p.Gln367Arg,ENST00000427581,;LILRB1,missense_variant,p.Gln331Arg,ENST00000396315,;LILRB1,missense_variant,p.Gln331Arg,ENST00000396317,NM_001278398.2;LILRB1-AS1,downstream_gene_variant,,ENST00000456337,;LILRB1,upstream_gene_variant,,ENST00000462628,;LILRB1,upstream_gene_variant,,ENST00000473412,;LILRB1,downstream_gene_variant,,ENST00000480257,;LILRB1,missense_variant,p.Gln331Arg,ENST00000421584,;LILRB1,upstream_gene_variant,,ENST00000480375,;LILRB1,upstream_gene_variant,,ENST00000487425,; G ENSG00000104972 ENST00000427581 Transcript missense_variant 1433/2751 1100/2106 367/701 Q/R cAg/cGg rs1334566399,COSV61118065 1 NA 1 LILRB1 HGNC HGNC:6605 protein_coding YES ENSP00000395004 F6TER3.64 UPI00034F2397 tolerated(0.16) benign(0.309) 6/15 Gene3D:2.60.40.10,Pfam:PF00047,PROSITE_profiles:PS50835,PANTHER:PTHR11738,PANTHER:PTHR11738:SF165,SMART:SM00409,Superfamily:SSF48726 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE NA SNV 5 NA 0,1 NA NA . CAG . 2865.6 NA NA NA NA NA NA NA NA NA 54633049 LILRB1 10859 . GRCh38 chr19 54633108 54633108 + Missense_Mutation SNP T T G rs765206177 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1159T>G p.Trp387Gly p.W387G ENST00000427581 6/15 NA NA NA NA NA NA LILRB1,missense_variant,p.Trp351Gly,ENST00000396331,NM_006669.6;LILRB1,missense_variant,p.Trp351Gly,ENST00000396327,NM_001081638.3;LILRB1,missense_variant,p.Trp351Gly,ENST00000396332,NM_001081639.3;LILRB1,missense_variant,p.Trp351Gly,ENST00000324602,NM_001081637.2;LILRB1,missense_variant,p.Trp387Gly,ENST00000427581,;LILRB1,missense_variant,p.Trp351Gly,ENST00000396315,;LILRB1,missense_variant,p.Trp351Gly,ENST00000396317,NM_001278398.2;LILRB1-AS1,downstream_gene_variant,,ENST00000456337,;LILRB1,upstream_gene_variant,,ENST00000462628,;LILRB1,upstream_gene_variant,,ENST00000473412,;LILRB1,downstream_gene_variant,,ENST00000480257,;LILRB1,missense_variant,p.Trp351Gly,ENST00000421584,;LILRB1,upstream_gene_variant,,ENST00000480375,;LILRB1,upstream_gene_variant,,ENST00000487425,; G ENSG00000104972 ENST00000427581 Transcript missense_variant 1492/2751 1159/2106 387/701 W/G Tgg/Ggg rs765206177 1 NA 1 LILRB1 HGNC HGNC:6605 protein_coding YES ENSP00000395004 F6TER3.64 UPI00034F2397 tolerated(0.55) benign(0.006) 6/15 Gene3D:2.60.40.10,Pfam:PF00047,PROSITE_profiles:PS50835,PANTHER:PTHR11738,PANTHER:PTHR11738:SF165,SMART:SM00408,SMART:SM00409,Superfamily:SSF48726 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE NA SNV 5 NA NA NA . ATG . 6373.6 3.977e-06 NA NA NA NA NA 8.791e-06 NA NA 54633108 LILRB1 10859 . GRCh38 chr19 54633116 54633116 + Missense_Mutation SNP A A C rs764221410 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1167A>C p.Gln389His p.Q389H ENST00000427581 6/15 NA NA NA NA NA NA LILRB1,missense_variant,p.Gln353His,ENST00000396331,NM_006669.6;LILRB1,missense_variant,p.Gln353His,ENST00000396327,NM_001081638.3;LILRB1,missense_variant,p.Gln353His,ENST00000396332,NM_001081639.3;LILRB1,missense_variant,p.Gln353His,ENST00000324602,NM_001081637.2;LILRB1,missense_variant,p.Gln389His,ENST00000427581,;LILRB1,missense_variant,p.Gln353His,ENST00000396315,;LILRB1,missense_variant,p.Gln353His,ENST00000396317,NM_001278398.2;LILRB1-AS1,downstream_gene_variant,,ENST00000456337,;LILRB1,upstream_gene_variant,,ENST00000462628,;LILRB1,upstream_gene_variant,,ENST00000473412,;LILRB1,downstream_gene_variant,,ENST00000480257,;LILRB1,missense_variant,p.Gln353His,ENST00000421584,;LILRB1,upstream_gene_variant,,ENST00000480375,;LILRB1,upstream_gene_variant,,ENST00000487425,; C ENSG00000104972 ENST00000427581 Transcript missense_variant 1500/2751 1167/2106 389/701 Q/H caA/caC rs764221410 1 NA 1 LILRB1 HGNC HGNC:6605 protein_coding YES ENSP00000395004 F6TER3.64 UPI00034F2397 tolerated(0.18) benign(0) 6/15 Gene3D:2.60.40.10,Pfam:PF00047,PROSITE_profiles:PS50835,PANTHER:PTHR11738,PANTHER:PTHR11738:SF165,SMART:SM00408,SMART:SM00409,Superfamily:SSF48726 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE NA SNV 5 NA NA NA . AAA . 6324.6 7.954e-06 NA NA NA NA NA 1.758e-05 NA NA 54633116 LILRB1 10859 . GRCh38 chr19 54633126 54633126 + Silent SNP C C T rs1418419965 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1177C>T p.Leu393= p.L393= ENST00000427581 6/15 NA NA NA NA NA NA LILRB1,synonymous_variant,p.Leu357=,ENST00000396331,NM_006669.6;LILRB1,synonymous_variant,p.Leu357=,ENST00000396327,NM_001081638.3;LILRB1,synonymous_variant,p.Leu357=,ENST00000396332,NM_001081639.3;LILRB1,synonymous_variant,p.Leu357=,ENST00000324602,NM_001081637.2;LILRB1,synonymous_variant,p.Leu393=,ENST00000427581,;LILRB1,synonymous_variant,p.Leu357=,ENST00000396315,;LILRB1,synonymous_variant,p.Leu357=,ENST00000396317,NM_001278398.2;LILRB1-AS1,downstream_gene_variant,,ENST00000456337,;LILRB1,non_coding_transcript_exon_variant,,ENST00000473412,;LILRB1,upstream_gene_variant,,ENST00000462628,;LILRB1,downstream_gene_variant,,ENST00000480257,;LILRB1,synonymous_variant,p.Leu357=,ENST00000421584,;LILRB1,upstream_gene_variant,,ENST00000480375,;LILRB1,upstream_gene_variant,,ENST00000487425,; T ENSG00000104972 ENST00000427581 Transcript synonymous_variant 1510/2751 1177/2106 393/701 L Ctg/Ttg rs1418419965 1 NA 1 LILRB1 HGNC HGNC:6605 protein_coding YES ENSP00000395004 F6TER3.64 UPI00034F2397 6/15 Gene3D:2.60.40.10,Pfam:PF00047,PROSITE_profiles:PS50835,PANTHER:PTHR11738,PANTHER:PTHR11738:SF165,SMART:SM00408,SMART:SM00409,Superfamily:SSF48726 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW NA SNV 5 NA NA NA . TCT . 6249.6 NA NA NA NA NA NA NA NA NA 54633126 LILRB1 10859 . GRCh38 chr19 54633150 54633150 + Missense_Mutation SNP G G T rs1260040283 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1201G>T p.Asp401Tyr p.D401Y ENST00000427581 6/15 NA NA NA NA NA NA LILRB1,missense_variant,p.Asp365Tyr,ENST00000396331,NM_006669.6;LILRB1,missense_variant,p.Asp365Tyr,ENST00000396327,NM_001081638.3;LILRB1,missense_variant,p.Asp365Tyr,ENST00000396332,NM_001081639.3;LILRB1,missense_variant,p.Asp365Tyr,ENST00000324602,NM_001081637.2;LILRB1,missense_variant,p.Asp401Tyr,ENST00000427581,;LILRB1,missense_variant,p.Asp365Tyr,ENST00000396315,;LILRB1,missense_variant,p.Asp365Tyr,ENST00000396317,NM_001278398.2;LILRB1-AS1,downstream_gene_variant,,ENST00000456337,;LILRB1,non_coding_transcript_exon_variant,,ENST00000462628,;LILRB1,non_coding_transcript_exon_variant,,ENST00000473412,;LILRB1,downstream_gene_variant,,ENST00000480257,;LILRB1,missense_variant,p.Asp365Tyr,ENST00000421584,;LILRB1,upstream_gene_variant,,ENST00000480375,;LILRB1,upstream_gene_variant,,ENST00000487425,; T ENSG00000104972 ENST00000427581 Transcript missense_variant 1534/2751 1201/2106 401/701 D/Y Gac/Tac rs1260040283,COSV61116872 1 NA 1 LILRB1 HGNC HGNC:6605 protein_coding YES ENSP00000395004 F6TER3.64 UPI00034F2397 deleterious(0.01) benign(0.116) 6/15 Gene3D:2.60.40.10,Pfam:PF00047,PROSITE_profiles:PS50835,PANTHER:PTHR11738,PANTHER:PTHR11738:SF165,SMART:SM00408,SMART:SM00409,Superfamily:SSF48726 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE NA SNV 5 NA 0,1 NA NA . TGA . 5231.6 NA NA NA NA NA NA NA NA NA 54633150 LILRB1 10859 . GRCh38 chr19 54633151 54633151 + Missense_Mutation SNP A A C rs12985933 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1202A>C p.Asp401Ala p.D401A ENST00000427581 6/15 NA NA NA NA NA NA LILRB1,missense_variant,p.Asp365Ala,ENST00000396331,NM_006669.6;LILRB1,missense_variant,p.Asp365Ala,ENST00000396327,NM_001081638.3;LILRB1,missense_variant,p.Asp365Ala,ENST00000396332,NM_001081639.3;LILRB1,missense_variant,p.Asp365Ala,ENST00000324602,NM_001081637.2;LILRB1,missense_variant,p.Asp401Ala,ENST00000427581,;LILRB1,missense_variant,p.Asp365Ala,ENST00000396315,;LILRB1,missense_variant,p.Asp365Ala,ENST00000396317,NM_001278398.2;LILRB1-AS1,downstream_gene_variant,,ENST00000456337,;LILRB1,non_coding_transcript_exon_variant,,ENST00000462628,;LILRB1,non_coding_transcript_exon_variant,,ENST00000473412,;LILRB1,downstream_gene_variant,,ENST00000480257,;LILRB1,missense_variant,p.Asp365Ala,ENST00000421584,;LILRB1,upstream_gene_variant,,ENST00000480375,;LILRB1,upstream_gene_variant,,ENST00000487425,; C ENSG00000104972 ENST00000427581 Transcript missense_variant 1535/2751 1202/2106 401/701 D/A gAc/gCc rs12985933,COSV61118903 1 NA 1 LILRB1 HGNC HGNC:6605 protein_coding YES ENSP00000395004 F6TER3.64 UPI00034F2397 tolerated(0.23) benign(0) 6/15 Gene3D:2.60.40.10,Pfam:PF00047,PROSITE_profiles:PS50835,PANTHER:PTHR11738,PANTHER:PTHR11738:SF165,SMART:SM00408,SMART:SM00409,Superfamily:SSF48726 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE NA SNV 5 NA 0,1 NA NA . GAC . 5108.6 NA NA NA NA NA NA NA NA NA 54633151 LILRB1 10859 . GRCh38 chr19 54633155 54633156 + Frame_Shift_Del DEL AT AT - novel NA HCI-EC-23 NORMAL AT AT NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1206_1207del p.Trp403AlafsTer14 p.W403Afs*14 ENST00000427581 6/15 NA NA NA NA NA NA LILRB1,frameshift_variant,p.Trp367AlafsTer14,ENST00000396331,NM_006669.6;LILRB1,frameshift_variant,p.Trp367AlafsTer14,ENST00000396327,NM_001081638.3;LILRB1,frameshift_variant,p.Trp367AlafsTer14,ENST00000396332,NM_001081639.3;LILRB1,frameshift_variant,p.Trp367AlafsTer14,ENST00000324602,NM_001081637.2;LILRB1,frameshift_variant,p.Trp403AlafsTer14,ENST00000427581,;LILRB1,frameshift_variant,p.Trp367AlafsTer14,ENST00000396315,;LILRB1,frameshift_variant,p.Trp367AlafsTer14,ENST00000396317,NM_001278398.2;LILRB1-AS1,downstream_gene_variant,,ENST00000456337,;LILRB1,non_coding_transcript_exon_variant,,ENST00000462628,;LILRB1,non_coding_transcript_exon_variant,,ENST00000473412,;LILRB1,downstream_gene_variant,,ENST00000480257,;LILRB1,frameshift_variant,p.Trp367AlafsTer14,ENST00000421584,;LILRB1,upstream_gene_variant,,ENST00000480375,;LILRB1,upstream_gene_variant,,ENST00000487425,; - ENSG00000104972 ENST00000427581 Transcript frameshift_variant 1539-1540/2751 1206-1207/2106 402-403/701 PW/PX ccATgg/ccgg 1 NA 1 LILRB1 HGNC HGNC:6605 protein_coding YES ENSP00000395004 F6TER3.64 UPI00034F2397 6/15 Gene3D:2.60.40.10,Pfam:PF00047,PROSITE_profiles:PS50835,PANTHER:PTHR11738,PANTHER:PTHR11738:SF165,SMART:SM00408,SMART:SM00409,Superfamily:SSF48726 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH NA deletion 5 NA NA NA . CCATG . 3192.6 NA NA NA NA NA NA NA NA NA 54633154 LILRB1 10859 . GRCh38 chr19 54633157 54633158 + Frame_Shift_Ins INS - - CT novel NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1208_1209insCT p.Trp403CysfsTer4 p.W403Cfs*4 ENST00000427581 6/15 NA NA NA NA NA NA LILRB1,frameshift_variant,p.Trp367CysfsTer4,ENST00000396331,NM_006669.6;LILRB1,frameshift_variant,p.Trp367CysfsTer4,ENST00000396327,NM_001081638.3;LILRB1,frameshift_variant,p.Trp367CysfsTer4,ENST00000396332,NM_001081639.3;LILRB1,frameshift_variant,p.Trp367CysfsTer4,ENST00000324602,NM_001081637.2;LILRB1,frameshift_variant,p.Trp403CysfsTer4,ENST00000427581,;LILRB1,frameshift_variant,p.Trp367CysfsTer4,ENST00000396315,;LILRB1,frameshift_variant,p.Trp367CysfsTer4,ENST00000396317,NM_001278398.2;LILRB1-AS1,downstream_gene_variant,,ENST00000456337,;LILRB1,non_coding_transcript_exon_variant,,ENST00000462628,;LILRB1,non_coding_transcript_exon_variant,,ENST00000473412,;LILRB1,downstream_gene_variant,,ENST00000480257,;LILRB1,frameshift_variant,p.Trp367CysfsTer4,ENST00000421584,;LILRB1,upstream_gene_variant,,ENST00000480375,;LILRB1,upstream_gene_variant,,ENST00000487425,; CT ENSG00000104972 ENST00000427581 Transcript frameshift_variant 1541-1542/2751 1208-1209/2106 403/701 W/CX tgg/tgCTg 1 NA 1 LILRB1 HGNC HGNC:6605 protein_coding YES ENSP00000395004 F6TER3.64 UPI00034F2397 6/15 Gene3D:2.60.40.10,Pfam:PF00047,PROSITE_profiles:PS50835,PANTHER:PTHR11738,PANTHER:PTHR11738:SF165,SMART:SM00408,SMART:SM00409,Superfamily:SSF48726 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH NA insertion 5 NA NA NA . TGG . 3168.64 NA NA NA NA NA NA NA NA NA 54633157 LILRB1 10859 . GRCh38 chr19 54633166 54633166 + Missense_Mutation SNP G G A rs1401913528 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1217G>A p.Arg406Lys p.R406K ENST00000427581 6/15 NA NA NA NA NA NA LILRB1,missense_variant,p.Arg370Lys,ENST00000396331,NM_006669.6;LILRB1,missense_variant,p.Arg370Lys,ENST00000396327,NM_001081638.3;LILRB1,missense_variant,p.Arg370Lys,ENST00000396332,NM_001081639.3;LILRB1,missense_variant,p.Arg370Lys,ENST00000324602,NM_001081637.2;LILRB1,missense_variant,p.Arg406Lys,ENST00000427581,;LILRB1,missense_variant,p.Arg370Lys,ENST00000396315,;LILRB1,missense_variant,p.Arg370Lys,ENST00000396317,NM_001278398.2;LILRB1-AS1,downstream_gene_variant,,ENST00000456337,;LILRB1,non_coding_transcript_exon_variant,,ENST00000462628,;LILRB1,non_coding_transcript_exon_variant,,ENST00000473412,;LILRB1,downstream_gene_variant,,ENST00000480257,;LILRB1,missense_variant,p.Arg370Lys,ENST00000421584,;LILRB1,upstream_gene_variant,,ENST00000480375,;LILRB1,upstream_gene_variant,,ENST00000487425,; A ENSG00000104972 ENST00000427581 Transcript missense_variant 1550/2751 1217/2106 406/701 R/K aGa/aAa rs1401913528 1 NA 1 LILRB1 HGNC HGNC:6605 protein_coding YES ENSP00000395004 F6TER3.64 UPI00034F2397 tolerated(0.25) benign(0.086) 6/15 Gene3D:2.60.40.10,Pfam:PF00047,PROSITE_profiles:PS50835,PANTHER:PTHR11738,PANTHER:PTHR11738:SF165,SMART:SM00408,SMART:SM00409,Superfamily:SSF48726 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE NA SNV 5 NA NA NA . AGA . 2859.6 NA NA NA NA NA NA NA NA NA 54633166 LILRB1 10859 . GRCh38 chr19 54633171 54633172 + Frame_Shift_Ins INS - - AG novel NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1222_1223insAG p.Thr408LysfsTer17 p.T408Kfs*17 ENST00000427581 6/15 NA NA NA NA NA NA LILRB1,frameshift_variant,p.Thr372LysfsTer17,ENST00000396331,NM_006669.6;LILRB1,frameshift_variant,p.Thr372LysfsTer17,ENST00000396327,NM_001081638.3;LILRB1,frameshift_variant,p.Thr372LysfsTer17,ENST00000396332,NM_001081639.3;LILRB1,frameshift_variant,p.Thr372LysfsTer17,ENST00000324602,NM_001081637.2;LILRB1,frameshift_variant,p.Thr408LysfsTer17,ENST00000427581,;LILRB1,frameshift_variant,p.Thr372LysfsTer17,ENST00000396315,;LILRB1,frameshift_variant,p.Thr372LysfsTer17,ENST00000396317,NM_001278398.2;LILRB1-AS1,downstream_gene_variant,,ENST00000456337,;LILRB1,non_coding_transcript_exon_variant,,ENST00000462628,;LILRB1,non_coding_transcript_exon_variant,,ENST00000473412,;LILRB1,downstream_gene_variant,,ENST00000480257,;LILRB1,frameshift_variant,p.Thr372LysfsTer17,ENST00000421584,;LILRB1,upstream_gene_variant,,ENST00000480375,;LILRB1,upstream_gene_variant,,ENST00000487425,; AG ENSG00000104972 ENST00000427581 Transcript frameshift_variant 1555-1556/2751 1222-1223/2106 408/701 T/KX acg/aAGcg 1 NA 1 LILRB1 HGNC HGNC:6605 protein_coding YES ENSP00000395004 F6TER3.64 UPI00034F2397 6/15 Gene3D:2.60.40.10,Pfam:PF00047,PROSITE_profiles:PS50835,PANTHER:PTHR11738,PANTHER:PTHR11738:SF165,SMART:SM00408,SMART:SM00409,Superfamily:SSF48726 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH NA insertion 5 NA NA NA . AAC . 2688.64 NA NA NA NA NA NA NA NA NA 54633171 LILRB1 10859 . GRCh38 chr19 54633174 54633175 + Frame_Shift_Del DEL TA TA - novel NA HCI-EC-23 NORMAL TA TA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1225_1226del p.Tyr409ProfsTer8 p.Y409Pfs*8 ENST00000427581 6/15 NA NA NA NA NA NA LILRB1,frameshift_variant,p.Tyr373ProfsTer8,ENST00000396331,NM_006669.6;LILRB1,frameshift_variant,p.Tyr373ProfsTer8,ENST00000396327,NM_001081638.3;LILRB1,frameshift_variant,p.Tyr373ProfsTer8,ENST00000396332,NM_001081639.3;LILRB1,frameshift_variant,p.Tyr373ProfsTer8,ENST00000324602,NM_001081637.2;LILRB1,frameshift_variant,p.Tyr409ProfsTer8,ENST00000427581,;LILRB1,frameshift_variant,p.Tyr373ProfsTer8,ENST00000396315,;LILRB1,frameshift_variant,p.Tyr373ProfsTer8,ENST00000396317,NM_001278398.2;LILRB1-AS1,downstream_gene_variant,,ENST00000456337,;LILRB1,non_coding_transcript_exon_variant,,ENST00000462628,;LILRB1,non_coding_transcript_exon_variant,,ENST00000473412,;LILRB1,downstream_gene_variant,,ENST00000480257,;LILRB1,frameshift_variant,p.Tyr373ProfsTer8,ENST00000421584,;LILRB1,upstream_gene_variant,,ENST00000480375,;LILRB1,upstream_gene_variant,,ENST00000487425,; - ENSG00000104972 ENST00000427581 Transcript frameshift_variant 1558-1559/2751 1225-1226/2106 409/701 Y/X TAc/c 1 NA 1 LILRB1 HGNC HGNC:6605 protein_coding YES ENSP00000395004 F6TER3.64 UPI00034F2397 6/15 Gene3D:2.60.40.10,Pfam:PF00047,PROSITE_profiles:PS50835,PANTHER:PTHR11738,PANTHER:PTHR11738:SF165,SMART:SM00408,SMART:SM00409,Superfamily:SSF48726 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH NA deletion 5 NA NA NA . CGTAC . 2649.6 NA NA NA NA NA NA NA NA NA 54633173 LILRB1 10859 . GRCh38 chr19 54633185 54633185 + Missense_Mutation SNP A A T rs1240220003 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1236A>T p.Gln412His p.Q412H ENST00000427581 6/15 NA NA NA NA NA NA LILRB1,missense_variant,p.Gln376His,ENST00000396331,NM_006669.6;LILRB1,missense_variant,p.Gln376His,ENST00000396327,NM_001081638.3;LILRB1,missense_variant,p.Gln376His,ENST00000396332,NM_001081639.3;LILRB1,missense_variant,p.Gln376His,ENST00000324602,NM_001081637.2;LILRB1,missense_variant,p.Gln412His,ENST00000427581,;LILRB1,missense_variant,p.Gln376His,ENST00000396315,;LILRB1,missense_variant,p.Gln376His,ENST00000396317,NM_001278398.2;LILRB1-AS1,downstream_gene_variant,,ENST00000456337,;LILRB1,non_coding_transcript_exon_variant,,ENST00000462628,;LILRB1,non_coding_transcript_exon_variant,,ENST00000473412,;LILRB1,downstream_gene_variant,,ENST00000480257,;LILRB1,missense_variant,p.Gln376His,ENST00000421584,;LILRB1,upstream_gene_variant,,ENST00000480375,;LILRB1,upstream_gene_variant,,ENST00000487425,; T ENSG00000104972 ENST00000427581 Transcript missense_variant 1569/2751 1236/2106 412/701 Q/H caA/caT rs1240220003 1 NA 1 LILRB1 HGNC HGNC:6605 protein_coding YES ENSP00000395004 F6TER3.64 UPI00034F2397 tolerated(0.62) benign(0.003) 6/15 Gene3D:2.60.40.10,Pfam:PF00047,PROSITE_profiles:PS50835,PANTHER:PTHR11738,PANTHER:PTHR11738:SF165,SMART:SM00408,SMART:SM00409,Superfamily:SSF48726 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE NA SNV 5 NA NA NA . AAA . 2175.6 NA NA NA NA NA NA NA NA NA 54633185 LILRB1 10859 . GRCh38 chr19 54633188 54633188 + Silent SNP A A G rs1191834124 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1239A>G p.Lys413= p.K413= ENST00000427581 6/15 NA NA NA NA NA NA LILRB1,synonymous_variant,p.Lys377=,ENST00000396331,NM_006669.6;LILRB1,synonymous_variant,p.Lys377=,ENST00000396327,NM_001081638.3;LILRB1,synonymous_variant,p.Lys377=,ENST00000396332,NM_001081639.3;LILRB1,synonymous_variant,p.Lys377=,ENST00000324602,NM_001081637.2;LILRB1,synonymous_variant,p.Lys413=,ENST00000427581,;LILRB1,synonymous_variant,p.Lys377=,ENST00000396315,;LILRB1,synonymous_variant,p.Lys377=,ENST00000396317,NM_001278398.2;LILRB1-AS1,downstream_gene_variant,,ENST00000456337,;LILRB1,non_coding_transcript_exon_variant,,ENST00000462628,;LILRB1,non_coding_transcript_exon_variant,,ENST00000473412,;LILRB1,downstream_gene_variant,,ENST00000480257,;LILRB1,synonymous_variant,p.Lys377=,ENST00000421584,;LILRB1,upstream_gene_variant,,ENST00000480375,;LILRB1,upstream_gene_variant,,ENST00000487425,; G ENSG00000104972 ENST00000427581 Transcript synonymous_variant 1572/2751 1239/2106 413/701 K aaA/aaG rs1191834124 1 NA 1 LILRB1 HGNC HGNC:6605 protein_coding YES ENSP00000395004 F6TER3.64 UPI00034F2397 6/15 Gene3D:2.60.40.10,Pfam:PF00047,PROSITE_profiles:PS50835,PANTHER:PTHR11738,PANTHER:PTHR11738:SF165,SMART:SM00408,SMART:SM00409,Superfamily:SSF48726 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW NA SNV 5 NA NA NA . AAT . 2067.6 NA NA NA NA NA NA NA NA NA 54633188 LILRB1 10859 . GRCh38 chr19 54633210 54633210 + Missense_Mutation SNP G G A rs372567136 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1261G>A p.Gly421Ser p.G421S ENST00000427581 6/15 NA NA NA NA NA NA LILRB1,missense_variant,p.Gly385Ser,ENST00000396331,NM_006669.6;LILRB1,missense_variant,p.Gly385Ser,ENST00000396327,NM_001081638.3;LILRB1,missense_variant,p.Gly385Ser,ENST00000396332,NM_001081639.3;LILRB1,missense_variant,p.Gly385Ser,ENST00000324602,NM_001081637.2;LILRB1,missense_variant,p.Gly421Ser,ENST00000427581,;LILRB1,missense_variant,p.Gly385Ser,ENST00000396315,;LILRB1,missense_variant,p.Gly385Ser,ENST00000396317,NM_001278398.2;LILRB1-AS1,downstream_gene_variant,,ENST00000456337,;LILRB1,non_coding_transcript_exon_variant,,ENST00000462628,;LILRB1,non_coding_transcript_exon_variant,,ENST00000473412,;LILRB1,downstream_gene_variant,,ENST00000480257,;LILRB1,missense_variant,p.Gly385Ser,ENST00000421584,;LILRB1,upstream_gene_variant,,ENST00000480375,;LILRB1,upstream_gene_variant,,ENST00000487425,; A ENSG00000104972 ENST00000427581 Transcript missense_variant 1594/2751 1261/2106 421/701 G/S Ggt/Agt rs372567136,COSV61122951 1 NA 1 LILRB1 HGNC HGNC:6605 protein_coding YES ENSP00000395004 F6TER3.64 UPI00034F2397 tolerated(1) benign(0.007) 6/15 Gene3D:2.60.40.10,Pfam:PF00047,PROSITE_profiles:PS50835,PANTHER:PTHR11738,PANTHER:PTHR11738:SF165,SMART:SM00408,SMART:SM00409,Superfamily:SSF48726 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE NA SNV 5 NA 0,1 NA NA . GGG . 1734.6 7.953e-06 6.152e-05 NA NA NA NA 8.79e-06 NA NA 54633210 LILRB1 10859 . GRCh38 chr19 54633224 54633224 + Silent SNP A A G rs750548982 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1275A>G p.Ser425= p.S425= ENST00000427581 6/15 NA NA NA NA NA NA LILRB1,synonymous_variant,p.Ser389=,ENST00000396331,NM_006669.6;LILRB1,synonymous_variant,p.Ser389=,ENST00000396327,NM_001081638.3;LILRB1,synonymous_variant,p.Ser389=,ENST00000396332,NM_001081639.3;LILRB1,synonymous_variant,p.Ser389=,ENST00000324602,NM_001081637.2;LILRB1,synonymous_variant,p.Ser425=,ENST00000427581,;LILRB1,synonymous_variant,p.Ser389=,ENST00000396315,;LILRB1,synonymous_variant,p.Ser389=,ENST00000396317,NM_001278398.2;LILRB1-AS1,downstream_gene_variant,,ENST00000456337,;LILRB1,non_coding_transcript_exon_variant,,ENST00000462628,;LILRB1,non_coding_transcript_exon_variant,,ENST00000473412,;LILRB1,downstream_gene_variant,,ENST00000480257,;LILRB1,synonymous_variant,p.Ser389=,ENST00000421584,;LILRB1,upstream_gene_variant,,ENST00000480375,;LILRB1,upstream_gene_variant,,ENST00000487425,;,TF_binding_site_variant,,ENSM00524080027,; G ENSG00000104972 ENST00000427581 Transcript synonymous_variant 1608/2751 1275/2106 425/701 S tcA/tcG rs750548982 1 NA 1 LILRB1 HGNC HGNC:6605 protein_coding YES ENSP00000395004 F6TER3.64 UPI00034F2397 6/15 Gene3D:2.60.40.10,Pfam:PF00047,PROSITE_profiles:PS50835,PANTHER:PTHR11738,PANTHER:PTHR11738:SF165,SMART:SM00408,SMART:SM00409,Superfamily:SSF48726 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW NA SNV 5 NA NA NA . CAG . 1017.6 7.953e-06 6.152e-05 NA NA NA NA 8.79e-06 NA NA 54633224 LILRB1 10859 . GRCh38 chr19 54633230 54633230 + Silent SNP T T C rs766599731 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1281T>C p.His427= p.H427= ENST00000427581 6/15 NA NA NA NA NA NA LILRB1,synonymous_variant,p.His391=,ENST00000396331,NM_006669.6;LILRB1,synonymous_variant,p.His391=,ENST00000396327,NM_001081638.3;LILRB1,synonymous_variant,p.His391=,ENST00000396332,NM_001081639.3;LILRB1,synonymous_variant,p.His391=,ENST00000324602,NM_001081637.2;LILRB1,synonymous_variant,p.His427=,ENST00000427581,;LILRB1,synonymous_variant,p.His391=,ENST00000396315,;LILRB1,synonymous_variant,p.His391=,ENST00000396317,NM_001278398.2;LILRB1-AS1,downstream_gene_variant,,ENST00000456337,;LILRB1,non_coding_transcript_exon_variant,,ENST00000462628,;LILRB1,non_coding_transcript_exon_variant,,ENST00000473412,;LILRB1,downstream_gene_variant,,ENST00000480257,;LILRB1,synonymous_variant,p.His391=,ENST00000421584,;LILRB1,upstream_gene_variant,,ENST00000480375,;LILRB1,upstream_gene_variant,,ENST00000487425,; C ENSG00000104972 ENST00000427581 Transcript synonymous_variant 1614/2751 1281/2106 427/701 H caT/caC rs766599731,COSV61122239 1 NA 1 LILRB1 HGNC HGNC:6605 protein_coding YES ENSP00000395004 F6TER3.64 UPI00034F2397 6/15 Gene3D:2.60.40.10,Pfam:PF00047,PROSITE_profiles:PS50835,PANTHER:PTHR11738,PANTHER:PTHR11738:SF165,SMART:SM00408,SMART:SM00409,Superfamily:SSF48726 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA LOW NA SNV 5 NA 0,1 NA NA . ATG . 588.6 3.579e-05 0.0002461 2.892e-05 NA 0.0001087 NA 8.79e-06 0.000163 NA 54633230 KIR3DL3 115653 . GRCh38 chr19 54727757 54727757 + Missense_Mutation SNP G G A rs270790 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.502G>A p.Val168Ile p.V168I ENST00000291860 4/8 NA NA NA NA NA NA KIR3DL3,missense_variant,p.Val168Ile,ENST00000291860,NM_153443.4;AC245128.1,intron_variant,,ENST00000400864,; A ENSG00000242019 ENST00000291860 Transcript missense_variant 520/1691 502/1233 168/410 V/I Gtt/Att rs270790 1 NA 1 KIR3DL3 HGNC HGNC:16312 protein_coding YES CCDS12903.1 ENSP00000291860 A0A0B4J1R5.34 UPI00005056C3 NM_153443.4 tolerated(0.21) benign(0) 4/8 CDD:cd05711,PANTHER:PTHR11738:SF166,PANTHER:PTHR11738,Gene3D:2.60.40.10,SMART:SM00409,Superfamily:SSF48726 NA NA NA NA NA NA NA NA NA 30745901 NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CGT . 2003.6 NA NA NA NA NA NA NA NA NA 54727757 KIR3DL3 115653 . GRCh38 chr19 54729614 54729614 + Silent SNP G G A rs11575928 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.777G>A p.Ala259= p.A259= ENST00000291860 5/8 NA NA NA NA NA NA KIR3DL3,synonymous_variant,p.Ala259=,ENST00000291860,NM_153443.4;AC245128.1,intron_variant,,ENST00000400864,; A ENSG00000242019 ENST00000291860 Transcript synonymous_variant 795/1691 777/1233 259/410 A gcG/gcA rs11575928 1 NA 1 KIR3DL3 HGNC HGNC:16312 protein_coding YES CCDS12903.1 ENSP00000291860 A0A0B4J1R5.34 UPI00005056C3 NM_153443.4 5/8 PANTHER:PTHR11738:SF166,PANTHER:PTHR11738,Pfam:PF00047,Gene3D:2.60.40.10,SMART:SM00409,Superfamily:SSF48726 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . CGG . 2570.03 NA NA NA NA NA NA NA NA NA 54729614 KIR3DL3 115653 . GRCh38 chr19 54729641 54729641 + Silent SNP A A G rs62132678 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.804A>G p.Ala268= p.A268= ENST00000291860 5/8 NA NA NA NA NA NA KIR3DL3,synonymous_variant,p.Ala268=,ENST00000291860,NM_153443.4;AC245128.1,intron_variant,,ENST00000400864,; G ENSG00000242019 ENST00000291860 Transcript synonymous_variant 822/1691 804/1233 268/410 A gcA/gcG rs62132678 1 NA 1 KIR3DL3 HGNC HGNC:16312 protein_coding YES CCDS12903.1 ENSP00000291860 A0A0B4J1R5.34 UPI00005056C3 NM_153443.4 5/8 PANTHER:PTHR11738:SF166,PANTHER:PTHR11738,Pfam:PF00047,Gene3D:2.60.40.10,SMART:SM00409,Superfamily:SSF48726 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . CAG . 2202.02 NA NA NA NA NA NA NA NA NA 54729641 KIR3DL3 115653 . GRCh38 chr19 54729671 54729671 + Silent SNP C C T rs1217334272 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.834C>T p.Ala278= p.A278= ENST00000291860 5/8 NA NA NA NA NA NA KIR3DL3,synonymous_variant,p.Ala278=,ENST00000291860,NM_153443.4;AC245128.1,intron_variant,,ENST00000400864,; T ENSG00000242019 ENST00000291860 Transcript synonymous_variant 852/1691 834/1233 278/410 A gcC/gcT rs1217334272 1 NA 1 KIR3DL3 HGNC HGNC:16312 protein_coding YES CCDS12903.1 ENSP00000291860 A0A0B4J1R5.34 UPI00005056C3 NM_153443.4 5/8 PANTHER:PTHR11738:SF166,PANTHER:PTHR11738,Pfam:PF00047,Gene3D:2.60.40.10,SMART:SM00409,Superfamily:SSF48726 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . CCA . 79.6 NA NA NA NA NA NA NA NA NA 54729671 KIR3DL3 115653 . GRCh38 chr19 54729743 54729743 + Silent SNP T T C rs34847288 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.906T>C p.His302= p.H302= ENST00000291860 5/8 NA NA NA NA NA NA KIR3DL3,synonymous_variant,p.His302=,ENST00000291860,NM_153443.4;AC245128.1,intron_variant,,ENST00000400864,; C ENSG00000242019 ENST00000291860 Transcript synonymous_variant 924/1691 906/1233 302/410 H caT/caC rs34847288 1 NA 1 KIR3DL3 HGNC HGNC:16312 protein_coding YES CCDS12903.1 ENSP00000291860 A0A0B4J1R5.34 UPI00005056C3 NM_153443.4 5/8 PANTHER:PTHR11738:SF166,PANTHER:PTHR11738,Pfam:PF00047,Gene3D:2.60.40.10,SMART:SM00409,Superfamily:SSF48726 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . ATG . 2695.03 NA NA NA NA NA NA NA NA NA 54729743 KIR3DL3 115653 . GRCh38 chr19 54735264 54735264 + Missense_Mutation SNP A A T rs602444 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.961A>T p.Asn321Tyr p.N321Y ENST00000291860 6/8 NA NA NA NA NA NA KIR3DL3,missense_variant,p.Asn321Tyr,ENST00000291860,NM_153443.4;KIR2DL3,upstream_gene_variant,,ENST00000342376,NM_015868.3;AC245128.1,intron_variant,,ENST00000400864,; T ENSG00000242019 ENST00000291860 Transcript missense_variant 979/1691 961/1233 321/410 N/Y Aac/Tac rs602444 1 NA 1 KIR3DL3 HGNC HGNC:16312 protein_coding YES CCDS12903.1 ENSP00000291860 A0A0B4J1R5.34 UPI00005056C3 NM_153443.4 deleterious(0.03) benign(0) 6/8 Transmembrane_helices:TMhelix,PANTHER:PTHR11738:SF166,PANTHER:PTHR11738,SMART:SM00409 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . AAA . 1885.03 NA NA NA NA NA NA NA NA NA 54735264 KIR3DL3 115653 . GRCh38 chr19 54735274 54735274 + Missense_Mutation SNP T T C rs662386 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.971T>C p.Val324Ala p.V324A ENST00000291860 6/8 NA NA NA NA NA NA KIR3DL3,missense_variant,p.Val324Ala,ENST00000291860,NM_153443.4;KIR2DL3,upstream_gene_variant,,ENST00000342376,NM_015868.3;AC245128.1,intron_variant,,ENST00000400864,; C ENSG00000242019 ENST00000291860 Transcript missense_variant 989/1691 971/1233 324/410 V/A gTt/gCt rs662386 1 NA 1 KIR3DL3 HGNC HGNC:16312 protein_coding YES CCDS12903.1 ENSP00000291860 A0A0B4J1R5.34 UPI00005056C3 NM_153443.4 deleterious(0.05) benign(0.114) 6/8 Transmembrane_helices:TMhelix,PANTHER:PTHR11738:SF166,PANTHER:PTHR11738,SMART:SM00409 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . GTT . 1983.03 NA NA NA NA NA NA NA NA NA 54735274 KIR2DL3 3804 . GRCh38 chr19 54741980 54741980 + Missense_Mutation SNP G G A rs1375705580 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.71G>A p.Gly24Glu p.G24E ENST00000342376 3/8 NA NA NA NA NA NA KIR2DL3,missense_variant,p.Gly24Glu,ENST00000342376,NM_015868.3;AC245128.1,intron_variant,,ENST00000400864,;,regulatory_region_variant,,ENSR00000593767,; A ENSG00000243772 ENST00000342376 Transcript missense_variant,splice_region_variant 104/1592 71/1026 24/341 G/E gGa/gAa rs1375705580 1 NA 1 KIR2DL3 HGNC HGNC:6331 protein_coding YES CCDS33107.1 ENSP00000342215 P43628.190 E3NZD8.82 UPI000012DB1C NM_015868.3 deleterious(0) probably_damaging(0.983) 3/8 PDB-ENSP_mappings:1b6u.A,PANTHER:PTHR11738,PANTHER:PTHR11738:SF167,Gene3D:2.60.40.10 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . GGA . 3563.6 6.292e-06 NA NA NA NA NA 1.339e-05 NA NA 54741980 KIR2DL3 3804 . GRCh38 chr19 54742098 54742098 + Silent SNP A A G rs34790392 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.189A>G p.Glu63= p.E63= ENST00000342376 3/8 NA NA NA NA NA NA KIR2DL3,synonymous_variant,p.Glu63=,ENST00000342376,NM_015868.3;AC245128.1,intron_variant,,ENST00000400864,;,regulatory_region_variant,,ENSR00000593767,; G ENSG00000243772 ENST00000342376 Transcript synonymous_variant 222/1592 189/1026 63/341 E gaA/gaG rs34790392 1 NA 1 KIR2DL3 HGNC HGNC:6331 protein_coding YES CCDS33107.1 ENSP00000342215 P43628.190 E3NZD8.82 UPI000012DB1C NM_015868.3 3/8 PDB-ENSP_mappings:1b6u.A,CDD:cd05711,PANTHER:PTHR11738,PANTHER:PTHR11738:SF167,Gene3D:2.60.40.10,Pfam:PF00047,SMART:SM00409,Superfamily:SSF48726 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . AAG . 9566.6 8.805e-06 NA NA NA 0.000111 NA NA NA NA 54742098 KIR2DL3 3804 . GRCh38 chr19 54742106 54742106 + Missense_Mutation SNP T T A rs78713511 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.197T>A p.Phe66Tyr p.F66Y ENST00000342376 3/8 NA NA NA NA NA NA KIR2DL3,missense_variant,p.Phe66Tyr,ENST00000342376,NM_015868.3;AC245128.1,intron_variant,,ENST00000400864,;,regulatory_region_variant,,ENSR00000593767,; A ENSG00000243772 ENST00000342376 Transcript missense_variant 230/1592 197/1026 66/341 F/Y tTt/tAt rs78713511 1 NA 1 KIR2DL3 HGNC HGNC:6331 protein_coding YES CCDS33107.1 ENSP00000342215 P43628.190 E3NZD8.82 UPI000012DB1C NM_015868.3 tolerated(0.94) benign(0.007) 3/8 PDB-ENSP_mappings:1b6u.A,CDD:cd05711,PANTHER:PTHR11738,PANTHER:PTHR11738:SF167,Gene3D:2.60.40.10,Pfam:PF00047,SMART:SM00409,Superfamily:SSF48726 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . TTT . 9733.6 NA NA NA NA NA NA NA NA NA 54742106 KIR2DL3 3804 . GRCh38 chr19 54742155 54742155 + Silent SNP G G A rs1555898192 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.246G>A p.Lys82= p.K82= ENST00000342376 3/8 NA NA NA NA NA NA KIR2DL3,synonymous_variant,p.Lys82=,ENST00000342376,NM_015868.3;AC245128.1,intron_variant,,ENST00000400864,;,regulatory_region_variant,,ENSR00000593767,; A ENSG00000243772 ENST00000342376 Transcript synonymous_variant 279/1592 246/1026 82/341 K aaG/aaA rs1555898192 1 NA 1 KIR2DL3 HGNC HGNC:6331 protein_coding YES CCDS33107.1 ENSP00000342215 P43628.190 E3NZD8.82 UPI000012DB1C NM_015868.3 3/8 PDB-ENSP_mappings:1b6u.A,CDD:cd05711,PANTHER:PTHR11738,PANTHER:PTHR11738:SF167,Gene3D:2.60.40.10,Pfam:PF00047,SMART:SM00409,Superfamily:SSF48726 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . AGG . 5408.6 NA NA NA NA NA NA NA NA NA 54742155 KIR2DL3 3804 . GRCh38 chr19 54743842 54743842 + Silent SNP C C T rs377026641 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.418C>T p.Leu140= p.L140= ENST00000342376 4/8 NA NA NA NA NA NA KIR2DL3,synonymous_variant,p.Leu140=,ENST00000342376,NM_015868.3;AC245128.1,intron_variant,,ENST00000400864,; T ENSG00000243772 ENST00000342376 Transcript synonymous_variant 451/1592 418/1026 140/341 L Ctg/Ttg rs377026641 1 NA 1 KIR2DL3 HGNC HGNC:6331 protein_coding YES CCDS33107.1 ENSP00000342215 P43628.190 E3NZD8.82 UPI000012DB1C NM_015868.3 4/8 PDB-ENSP_mappings:1b6u.A,PANTHER:PTHR11738,PANTHER:PTHR11738:SF167,Gene3D:2.60.40.10,Pfam:PF00047,SMART:SM00409,Superfamily:SSF48726 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . TCT . 4624.6 NA NA NA NA NA NA NA NA NA 54743842 KIR2DL3 3804 . GRCh38 chr19 54743878 54743878 + Missense_Mutation SNP C C T rs200426472 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.454C>T p.Arg152Trp p.R152W ENST00000342376 4/8 NA NA NA NA NA NA KIR2DL3,missense_variant,p.Arg152Trp,ENST00000342376,NM_015868.3;AC245128.1,intron_variant,,ENST00000400864,; T ENSG00000243772 ENST00000342376 Transcript missense_variant 487/1592 454/1026 152/341 R/W Cgg/Tgg rs200426472 1 NA 1 KIR2DL3 HGNC HGNC:6331 protein_coding YES CCDS33107.1 ENSP00000342215 P43628.190 E3NZD8.82 UPI000012DB1C NM_015868.3 tolerated(0.16) benign(0.043) 4/8 PDB-ENSP_mappings:1b6u.A,PANTHER:PTHR11738,PANTHER:PTHR11738:SF167,Gene3D:2.60.40.10,Pfam:PF00047,SMART:SM00409,Superfamily:SSF48726 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CCG . 6401.6 7.162e-05 NA 5.302e-05 NA 0.000135 NA 7.314e-05 NA 0.0001709 54743878 KIR2DL3 3804 . GRCh38 chr19 54743909 54743909 + Missense_Mutation SNP G G C rs201504521 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.485G>C p.Arg162Thr p.R162T ENST00000342376 4/8 NA NA NA NA NA NA KIR2DL3,missense_variant,p.Arg162Thr,ENST00000342376,NM_015868.3;AC245128.1,intron_variant,,ENST00000400864,; C ENSG00000243772 ENST00000342376 Transcript missense_variant 518/1592 485/1026 162/341 R/T aGg/aCg rs201504521 1 NA 1 KIR2DL3 HGNC HGNC:6331 protein_coding YES CCDS33107.1 ENSP00000342215 P43628.190 E3NZD8.82 UPI000012DB1C NM_015868.3 deleterious(0.01) possibly_damaging(0.696) 4/8 PDB-ENSP_mappings:1b6u.A,PANTHER:PTHR11738,PANTHER:PTHR11738:SF167,Gene3D:2.60.40.10,Pfam:PF00047,SMART:SM00409,Superfamily:SSF48726 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . AGG . 9556.6 NA NA NA NA NA NA NA NA NA 54743909 KIR2DL3 3804 . GRCh38 chr19 54743929 54743929 + Missense_Mutation SNP C C T rs200686594 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.505C>T p.Arg169Cys p.R169C ENST00000342376 4/8 NA NA NA NA NA NA KIR2DL3,missense_variant,p.Arg169Cys,ENST00000342376,NM_015868.3;AC245128.1,intron_variant,,ENST00000400864,; T ENSG00000243772 ENST00000342376 Transcript missense_variant 538/1592 505/1026 169/341 R/C Cgt/Tgt rs200686594 1 NA 1 KIR2DL3 HGNC HGNC:6331 protein_coding YES CCDS33107.1 ENSP00000342215 P43628.190 E3NZD8.82 UPI000012DB1C NM_015868.3 tolerated(0.19) benign(0.005) 4/8 PDB-ENSP_mappings:1b6u.A,PANTHER:PTHR11738,PANTHER:PTHR11738:SF167,Gene3D:2.60.40.10,Pfam:PF00047,SMART:SM00409,Superfamily:SSF48726 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . ACG . 5553.6 3.906e-05 0.000196 NA NA 0.0002697 NA NA NA NA 54743929 KIR2DL3 3804 . GRCh38 chr19 54744000 54744000 + Missense_Mutation SNP C C A rs200359536 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.576C>A p.His192Gln p.H192Q ENST00000342376 4/8 NA NA NA NA NA NA KIR2DL3,missense_variant,p.His192Gln,ENST00000342376,NM_015868.3;AC245128.1,intron_variant,,ENST00000400864,; A ENSG00000243772 ENST00000342376 Transcript missense_variant 609/1592 576/1026 192/341 H/Q caC/caA rs200359536,COSV60900279 1 NA 1 KIR2DL3 HGNC HGNC:6331 protein_coding YES CCDS33107.1 ENSP00000342215 P43628.190 E3NZD8.82 UPI000012DB1C NM_015868.3 tolerated(0.16) benign(0.347) 4/8 PDB-ENSP_mappings:1b6u.A,PANTHER:PTHR11738,PANTHER:PTHR11738:SF167,Gene3D:2.60.40.10,Pfam:PF00047,SMART:SM00409,Superfamily:SSF48726 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 1 NA 0,1 NA NA . ACG . 1700.6 NA NA NA NA NA NA NA NA NA 54744000 KIR2DL3 3804 . GRCh38 chr19 54744032 54744032 + Missense_Mutation SNP G G A rs199818198 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.608G>A p.Arg203His p.R203H ENST00000342376 4/8 NA NA NA NA NA NA KIR2DL3,missense_variant,p.Arg203His,ENST00000342376,NM_015868.3;AC245128.1,intron_variant,,ENST00000400864,; A ENSG00000243772 ENST00000342376 Transcript missense_variant 641/1592 608/1026 203/341 R/H cGt/cAt rs199818198,COSV60898782 1 NA 1 KIR2DL3 HGNC HGNC:6331 protein_coding YES CCDS33107.1 ENSP00000342215 P43628.190 E3NZD8.82 UPI000012DB1C NM_015868.3 tolerated(0.27) benign(0) 4/8 PDB-ENSP_mappings:1b6u.A,PANTHER:PTHR11738,PANTHER:PTHR11738:SF167,Gene3D:2.60.40.10,Pfam:PF00047,SMART:SM00409,Superfamily:SSF48726 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 1 NA 0,1 NA NA . CGT . 2452.6 8.162e-05 NA NA NA 0.0001132 NA 0.0001576 NA NA 54744032 KIR2DL3 3804 . GRCh38 chr19 54744045 54744045 + Silent SNP C C T rs200751396 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.621C>T p.Tyr207= p.Y207= ENST00000342376 4/8 NA NA NA NA NA NA KIR2DL3,synonymous_variant,p.Tyr207=,ENST00000342376,NM_015868.3;AC245128.1,intron_variant,,ENST00000400864,; T ENSG00000243772 ENST00000342376 Transcript synonymous_variant 654/1592 621/1026 207/341 Y taC/taT rs200751396 1 NA 1 KIR2DL3 HGNC HGNC:6331 protein_coding YES CCDS33107.1 ENSP00000342215 P43628.190 E3NZD8.82 UPI000012DB1C NM_015868.3 4/8 PDB-ENSP_mappings:1b6u.A,PANTHER:PTHR11738,PANTHER:PTHR11738:SF167,Gene3D:2.60.40.10,Pfam:PF00047,SMART:SM00409,Superfamily:SSF48726 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . ACG . 9357.6 0.0001062 NA 0.0002018 NA 0.000357 NA NA NA 0.0001658 54744045 KIR2DL3 3804 . GRCh38 chr19 54744057 54744057 + Missense_Mutation SNP C C G rs1310962594 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.633C>G p.Asn211Lys p.N211K ENST00000342376 4/8 NA NA NA NA NA NA KIR2DL3,missense_variant,p.Asn211Lys,ENST00000342376,NM_015868.3;AC245128.1,intron_variant,,ENST00000400864,; G ENSG00000243772 ENST00000342376 Transcript missense_variant 666/1592 633/1026 211/341 N/K aaC/aaG rs1310962594 1 NA 1 KIR2DL3 HGNC HGNC:6331 protein_coding YES CCDS33107.1 ENSP00000342215 P43628.190 E3NZD8.82 UPI000012DB1C NM_015868.3 tolerated(0.17) benign(0.001) 4/8 PDB-ENSP_mappings:1b6u.A,PANTHER:PTHR11738,PANTHER:PTHR11738:SF167,Gene3D:2.60.40.10,SMART:SM00409,Superfamily:SSF48726 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . ACT . 819.6 NA NA NA NA NA NA NA NA NA 54744057 KIR2DL3 3804 . GRCh38 chr19 54744060 54744060 + Silent SNP G G A rs765710627 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.636G>A p.Ser212= p.S212= ENST00000342376 4/8 NA NA NA NA NA NA KIR2DL3,synonymous_variant,p.Ser212=,ENST00000342376,NM_015868.3;AC245128.1,intron_variant,,ENST00000400864,; A ENSG00000243772 ENST00000342376 Transcript synonymous_variant 669/1592 636/1026 212/341 S tcG/tcA rs765710627,COSV100667935 1 NA 1 KIR2DL3 HGNC HGNC:6331 protein_coding YES CCDS33107.1 ENSP00000342215 P43628.190 E3NZD8.82 UPI000012DB1C NM_015868.3 4/8 PDB-ENSP_mappings:1b6u.A,PANTHER:PTHR11738,PANTHER:PTHR11738:SF167,Gene3D:2.60.40.10,SMART:SM00409,Superfamily:SSF48726 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA LOW 1 SNV 1 NA 0,1 NA NA . CGA . 641.6 7.687e-05 NA NA NA NA NA 0.0001952 NA NA 54744060 KIR2DL3 3804 . GRCh38 chr19 54747378 54747378 + Silent SNP C C T rs200347365 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.708C>T p.Ser236= p.S236= ENST00000342376 5/8 NA NA NA NA NA NA KIR2DL3,synonymous_variant,p.Ser236=,ENST00000342376,NM_015868.3;AC245128.1,intron_variant,,ENST00000400864,; T ENSG00000243772 ENST00000342376 Transcript synonymous_variant 741/1592 708/1026 236/341 S tcC/tcT rs200347365 1 NA 1 KIR2DL3 HGNC HGNC:6331 protein_coding YES CCDS33107.1 ENSP00000342215 P43628.190 E3NZD8.82 UPI000012DB1C NM_015868.3 5/8 PDB-ENSP_mappings:1b6u.A,Low_complexity_(Seg):seg,PANTHER:PTHR11738,PANTHER:PTHR11738:SF167 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . CCG . 3645.6 7.275e-05 NA NA NA NA 0.0001453 0.0001139 0.0001795 3.537e-05 54747378 KIR2DL3 3804 . GRCh38 chr19 54751655 54751655 + Missense_Mutation SNP C C T rs878985524 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.722C>T p.Pro241Leu p.P241L ENST00000342376 6/8 NA NA NA NA NA NA KIR2DL3,missense_variant,p.Pro241Leu,ENST00000342376,NM_015868.3;AC245128.1,intron_variant,,ENST00000400864,;KIR2DP1,upstream_gene_variant,,ENST00000415311,; T ENSG00000243772 ENST00000342376 Transcript missense_variant 755/1592 722/1026 241/341 P/L cCc/cTc rs878985524,COSV60895071,COSV60897019 1 NA 1 KIR2DL3 HGNC HGNC:6331 protein_coding YES CCDS33107.1 ENSP00000342215 P43628.190 E3NZD8.82 UPI000012DB1C NM_015868.3 tolerated(0.17) benign(0.001) 6/8 PDB-ENSP_mappings:1b6u.A,Low_complexity_(Seg):seg,PANTHER:PTHR11738,PANTHER:PTHR11738:SF167 NA NA NA NA NA NA NA NA NA 0,1,1 NA NA NA NA MODERATE 1 SNV 1 NA 0,1,1 NA NA . CCC . 166.1 NA NA NA NA NA NA NA NA NA 54751655 KIR2DL3 3804 . GRCh38 chr19 54751669 54751669 + Missense_Mutation SNP G G A rs767421124 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.736G>A p.Val246Ile p.V246I ENST00000342376 6/8 NA NA NA NA NA NA KIR2DL3,missense_variant,p.Val246Ile,ENST00000342376,NM_015868.3;AC245128.1,intron_variant,,ENST00000400864,;KIR2DP1,upstream_gene_variant,,ENST00000415311,; A ENSG00000243772 ENST00000342376 Transcript missense_variant 769/1592 736/1026 246/341 V/I Gtt/Att rs767421124 1 NA 1 KIR2DL3 HGNC HGNC:6331 protein_coding YES CCDS33107.1 ENSP00000342215 P43628.190 E3NZD8.82 UPI000012DB1C NM_015868.3 tolerated(0.77) benign(0.003) 6/8 Transmembrane_helices:TMhelix,PANTHER:PTHR11738,PANTHER:PTHR11738:SF167 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . TGT . 166.1 2.177e-05 NA NA NA NA NA 1.903e-05 NA 0.0001192 54751669 KIR2DL3 3804 . GRCh38 chr19 54751692 54751693 + In_Frame_Ins INS - - GAA novel NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.759_760insGAA p.Val253_Ile254insGlu p.V253_I254insE ENST00000342376 6/8 NA NA NA NA NA NA KIR2DL3,inframe_insertion,p.Val253_Ile254insGlu,ENST00000342376,NM_015868.3;AC245128.1,intron_variant,,ENST00000400864,;KIR2DP1,upstream_gene_variant,,ENST00000415311,; GAA ENSG00000243772 ENST00000342376 Transcript inframe_insertion 792-793/1592 759-760/1026 253-254/341 -/E -/GAA 1 NA 1 KIR2DL3 HGNC HGNC:6331 protein_coding YES CCDS33107.1 ENSP00000342215 P43628.190 E3NZD8.82 UPI000012DB1C NM_015868.3 6/8 Transmembrane_helices:TMhelix,PANTHER:PTHR11738,PANTHER:PTHR11738:SF167 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 insertion 1 NA NA NA . TCA . 35.48 NA NA NA NA NA NA NA NA NA 54751692 KIR2DL3 3804 . GRCh38 chr19 54751696 54751697 + Frame_Shift_Del DEL AT AT - novel NA HCI-EC-23 NORMAL AT AT NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.763_764del p.Ile255ProfsTer39 p.I255Pfs*39 ENST00000342376 6/8 NA NA NA NA NA NA KIR2DL3,frameshift_variant,p.Ile255ProfsTer39,ENST00000342376,NM_015868.3;AC245128.1,intron_variant,,ENST00000400864,;KIR2DP1,upstream_gene_variant,,ENST00000415311,; - ENSG00000243772 ENST00000342376 Transcript frameshift_variant 796-797/1592 763-764/1026 255/341 I/X ATc/c 1 NA 1 KIR2DL3 HGNC HGNC:6331 protein_coding YES CCDS33107.1 ENSP00000342215 P43628.190 E3NZD8.82 UPI000012DB1C NM_015868.3 6/8 Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PANTHER:PTHR11738,PANTHER:PTHR11738:SF167 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 NA NA NA . TCATC . 35.44 NA NA NA NA NA NA NA NA NA 54751695 KIR2DL3 3804 . GRCh38 chr19 54751701 54751701 + Frame_Shift_Del DEL C C - novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.768del p.Phe257SerfsTer21 p.F257Sfs*21 ENST00000342376 6/8 NA NA NA NA NA NA KIR2DL3,frameshift_variant,p.Phe257SerfsTer21,ENST00000342376,NM_015868.3;AC245128.1,intron_variant,,ENST00000400864,;KIR2DP1,upstream_gene_variant,,ENST00000415311,; - ENSG00000243772 ENST00000342376 Transcript frameshift_variant 801/1592 768/1026 256/341 L/X ctC/ct 1 NA 1 KIR2DL3 HGNC HGNC:6331 protein_coding YES CCDS33107.1 ENSP00000342215 P43628.190 E3NZD8.82 UPI000012DB1C NM_015868.3 6/8 Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PANTHER:PTHR11738,PANTHER:PTHR11738:SF167 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 NA NA NA . CTCT . 35.44 NA NA NA NA NA NA NA NA NA 54751700 KIR2DL3 3804 . GRCh38 chr19 54752239 54752239 + Missense_Mutation SNP C C T rs2886313 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.844C>T p.Pro282Ser p.P282S ENST00000342376 7/8 NA NA NA NA NA NA KIR2DL3,missense_variant,p.Pro282Ser,ENST00000342376,NM_015868.3;AC245128.1,intron_variant,,ENST00000400864,;KIR2DP1,upstream_gene_variant,,ENST00000415311,; T ENSG00000243772 ENST00000342376 Transcript missense_variant 877/1592 844/1026 282/341 P/S Cct/Tct rs2886313 1 NA 1 KIR2DL3 HGNC HGNC:6331 protein_coding YES CCDS33107.1 ENSP00000342215 P43628.190 E3NZD8.82 UPI000012DB1C NM_015868.3 tolerated(0.09) benign(0.029) 7/8 PANTHER:PTHR11738,PANTHER:PTHR11738:SF167 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . GCC . 57.6 NA NA NA NA NA NA NA NA NA 54752239 KIR2DL3 3804 . GRCh38 chr19 54752247 54752247 + Silent SNP G G A rs2365228 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.852G>A p.Gly284= p.G284= ENST00000342376 7/8 NA NA NA NA NA NA KIR2DL3,synonymous_variant,p.Gly284=,ENST00000342376,NM_015868.3;AC245128.1,intron_variant,,ENST00000400864,;KIR2DP1,upstream_gene_variant,,ENST00000415311,; A ENSG00000243772 ENST00000342376 Transcript synonymous_variant 885/1592 852/1026 284/341 G ggG/ggA rs2365228 1 NA 1 KIR2DL3 HGNC HGNC:6331 protein_coding YES CCDS33107.1 ENSP00000342215 P43628.190 E3NZD8.82 UPI000012DB1C NM_015868.3 7/8 PANTHER:PTHR11738,PANTHER:PTHR11738:SF167 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . GGA . 54.6 NA NA NA NA NA NA NA NA NA 54752247 KIR2DL3 3804 . GRCh38 chr19 54752254 54752255 + Frame_Shift_Del DEL AC AC - rs779610049 NA HCI-EC-23 NORMAL AC AC NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.860_861del p.Thr287SerfsTer7 p.T287Sfs*7 ENST00000342376 7/8 NA NA NA NA NA NA KIR2DL3,frameshift_variant,p.Thr287SerfsTer7,ENST00000342376,NM_015868.3;AC245128.1,intron_variant,,ENST00000400864,;KIR2DP1,upstream_gene_variant,,ENST00000415311,; - ENSG00000243772 ENST00000342376 Transcript frameshift_variant 892-893/1592 859-860/1026 287/341 T/X ACa/a rs779610049 1 NA 1 KIR2DL3 HGNC HGNC:6331 protein_coding YES CCDS33107.1 ENSP00000342215 P43628.190 E3NZD8.82 UPI000012DB1C NM_015868.3 7/8 PANTHER:PTHR11738,PANTHER:PTHR11738:SF167 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 1 NA NA . GAACA . 2253.6 NA NA NA NA NA NA NA NA NA 54752253 KIR2DL3 3804 . GRCh38 chr19 54752258 54752258 + Missense_Mutation SNP T T C rs4020197 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.863T>C p.Val288Ala p.V288A ENST00000342376 7/8 NA NA NA NA NA NA KIR2DL3,missense_variant,p.Val288Ala,ENST00000342376,NM_015868.3;AC245128.1,intron_variant,,ENST00000400864,;KIR2DP1,upstream_gene_variant,,ENST00000415311,; C ENSG00000243772 ENST00000342376 Transcript missense_variant 896/1592 863/1026 288/341 V/A gTg/gCg rs4020197 1 NA 1 KIR2DL3 HGNC HGNC:6331 protein_coding YES CCDS33107.1 ENSP00000342215 P43628.190 E3NZD8.82 UPI000012DB1C NM_015868.3 deleterious(0.05) benign(0.005) 7/8 PANTHER:PTHR11738,PANTHER:PTHR11738:SF167 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . GTG . 278.6 NA NA NA NA NA NA NA NA NA 54752258 KIR2DL3 3804 . GRCh38 chr19 54752262 54752262 + Silent SNP C C T rs2365229 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.867C>T p.Asn289= p.N289= ENST00000342376 7/8 NA NA NA NA NA NA KIR2DL3,synonymous_variant,p.Asn289=,ENST00000342376,NM_015868.3;AC245128.1,intron_variant,,ENST00000400864,;KIR2DP1,upstream_gene_variant,,ENST00000415311,; T ENSG00000243772 ENST00000342376 Transcript synonymous_variant 900/1592 867/1026 289/341 N aaC/aaT rs2365229 1 NA 1 KIR2DL3 HGNC HGNC:6331 protein_coding YES CCDS33107.1 ENSP00000342215 P43628.190 E3NZD8.82 UPI000012DB1C NM_015868.3 7/8 PANTHER:PTHR11738,PANTHER:PTHR11738:SF167 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . ACA . 278.6 8.801e-06 NA NA NA 0.000111 NA NA NA NA 54752262 KIR2DL3 3804 . GRCh38 chr19 54752265 54752265 + Missense_Mutation SNP G G C rs4020198 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.870G>C p.Arg290Ser p.R290S ENST00000342376 7/8 NA NA NA NA NA NA KIR2DL3,missense_variant,p.Arg290Ser,ENST00000342376,NM_015868.3;AC245128.1,intron_variant,,ENST00000400864,;KIR2DP1,upstream_gene_variant,,ENST00000415311,; C ENSG00000243772 ENST00000342376 Transcript missense_variant 903/1592 870/1026 290/341 R/S agG/agC rs4020198 1 NA 1 KIR2DL3 HGNC HGNC:6331 protein_coding YES CCDS33107.1 ENSP00000342215 P43628.190 E3NZD8.82 UPI000012DB1C NM_015868.3 tolerated(0.19) benign(0.003) 7/8 PANTHER:PTHR11738,PANTHER:PTHR11738:SF167 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . GGG . 2692.02 3.08e-05 NA NA NA 0.000111 NA 9.661e-06 NA 0.0001605 54752265 KIR2DL3 3804 . GRCh38 chr19 54752369 54752369 + Splice_Region SNP C C T rs759960514 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.876C>T p.Asp292= p.D292= ENST00000342376 8/8 NA NA NA NA NA NA KIR2DL3,splice_region_variant,p.Asp292=,ENST00000342376,NM_015868.3;AC245128.1,intron_variant,,ENST00000400864,;KIR2DP1,upstream_gene_variant,,ENST00000415311,; T ENSG00000243772 ENST00000342376 Transcript splice_region_variant,synonymous_variant 909/1592 876/1026 292/341 D gaC/gaT rs759960514 1 NA 1 KIR2DL3 HGNC HGNC:6331 protein_coding YES CCDS33107.1 ENSP00000342215 P43628.190 E3NZD8.82 UPI000012DB1C NM_015868.3 8/8 PANTHER:PTHR11738,PANTHER:PTHR11738:SF167 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . ACT . 562.6 8.775e-06 NA NA NA NA 9.798e-05 NA NA NA 54752369 KIR2DL3 3804 . GRCh38 chr19 54752386 54752386 + Missense_Mutation SNP C C A rs765836206 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.893C>A p.Pro298His p.P298H ENST00000342376 8/8 NA NA NA NA NA NA KIR2DL3,missense_variant,p.Pro298His,ENST00000342376,NM_015868.3;AC245128.1,intron_variant,,ENST00000400864,;KIR2DP1,upstream_gene_variant,,ENST00000415311,; A ENSG00000243772 ENST00000342376 Transcript missense_variant 926/1592 893/1026 298/341 P/H cCt/cAt rs765836206 1 NA 1 KIR2DL3 HGNC HGNC:6331 protein_coding YES CCDS33107.1 ENSP00000342215 P43628.190 E3NZD8.82 UPI000012DB1C NM_015868.3 deleterious(0.02) benign(0.031) 8/8 PANTHER:PTHR11738,PANTHER:PTHR11738:SF167 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CCT . 137.6 NA NA NA NA NA NA NA NA NA 54752386 KIR2DL3 3804 . GRCh38 chr19 54752446 54752446 + Missense_Mutation SNP G G C rs1049267 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.953G>C p.Arg318Pro p.R318P ENST00000342376 8/8 NA NA NA NA NA NA KIR2DL3,missense_variant,p.Arg318Pro,ENST00000342376,NM_015868.3;AC245128.1,intron_variant,,ENST00000400864,;KIR2DP1,upstream_gene_variant,,ENST00000415311,; C ENSG00000243772 ENST00000342376 Transcript missense_variant 986/1592 953/1026 318/341 R/P cGc/cCc rs1049267,COSV60896365 1 NA 1 KIR2DL3 HGNC HGNC:6331 protein_coding YES CCDS33107.1 ENSP00000342215 P43628.190 E3NZD8.82 UPI000012DB1C NM_015868.3 tolerated(1) benign(0) 8/8 PANTHER:PTHR11738,PANTHER:PTHR11738:SF167 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 1 NA 0,1 NA NA . CGC . 112.1 NA NA NA NA NA NA NA NA NA 54752446 KIR2DL3 3804 . GRCh38 chr19 54752485 54752485 + Missense_Mutation SNP T T G rs781524573 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.992T>G p.Ile331Ser p.I331S ENST00000342376 8/8 NA NA NA NA NA NA KIR2DL3,missense_variant,p.Ile331Ser,ENST00000342376,NM_015868.3;AC245128.1,intron_variant,,ENST00000400864,;KIR2DP1,upstream_gene_variant,,ENST00000415311,; G ENSG00000243772 ENST00000342376 Transcript missense_variant 1025/1592 992/1026 331/341 I/S aTc/aGc rs781524573,COSV100667909,COSV60896458 1 NA 1 KIR2DL3 HGNC HGNC:6331 protein_coding YES CCDS33107.1 ENSP00000342215 P43628.190 E3NZD8.82 UPI000012DB1C NM_015868.3 tolerated(1) benign(0) 8/8 PANTHER:PTHR11738,PANTHER:PTHR11738:SF167 NA NA NA NA NA NA NA NA NA 0,1,1 NA NA NA NA MODERATE 1 SNV 1 NA 0,1,1 NA NA . ATC . 346 8.775e-06 NA NA NA 5.544e-05 NA 9.627e-06 NA NA 54752485 KIR2DL3 3804 . GRCh38 chr19 54752487 54752487 + Missense_Mutation SNP G G A rs879086624 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.994G>A p.Val332Met p.V332M ENST00000342376 8/8 NA NA NA NA NA NA KIR2DL3,missense_variant,p.Val332Met,ENST00000342376,NM_015868.3;AC245128.1,intron_variant,,ENST00000400864,;KIR2DP1,upstream_gene_variant,,ENST00000415311,; A ENSG00000243772 ENST00000342376 Transcript missense_variant 1027/1592 994/1026 332/341 V/M Gtg/Atg rs879086624,COSV60896465 1 NA 1 KIR2DL3 HGNC HGNC:6331 protein_coding YES CCDS33107.1 ENSP00000342215 P43628.190 E3NZD8.82 UPI000012DB1C NM_015868.3 tolerated(0.14) benign(0.085) 8/8 PANTHER:PTHR11738,PANTHER:PTHR11738:SF167 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 1 NA 0,1 NA NA . CGT . 346 NA NA NA NA NA NA NA NA NA 54752487 KIR2DL3 3804 . GRCh38 chr19 54752494 54752494 + Missense_Mutation SNP C C T rs878963706 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1001C>T p.Thr334Met p.T334M ENST00000342376 8/8 NA NA NA NA NA NA KIR2DL3,missense_variant,p.Thr334Met,ENST00000342376,NM_015868.3;AC245128.1,intron_variant,,ENST00000400864,;KIR2DP1,upstream_gene_variant,,ENST00000415311,; T ENSG00000243772 ENST00000342376 Transcript missense_variant 1034/1592 1001/1026 334/341 T/M aCg/aTg rs878963706,COSV100668174 1 NA 1 KIR2DL3 HGNC HGNC:6331 protein_coding YES CCDS33107.1 ENSP00000342215 P43628.190 E3NZD8.82 UPI000012DB1C NM_015868.3 tolerated(0.45) benign(0.007) 8/8 PANTHER:PTHR11738,PANTHER:PTHR11738:SF167 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 1 NA 0,1 NA NA . ACG . 391.01 4.385e-06 NA NA NA NA NA 9.619e-06 NA NA 54752494 KIR2DL3 3804 . GRCh38 chr19 54752495 54752495 + Silent SNP G G A rs769945853 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1002G>A p.Thr334= p.T334= ENST00000342376 8/8 NA NA NA NA NA NA KIR2DL3,synonymous_variant,p.Thr334=,ENST00000342376,NM_015868.3;AC245128.1,intron_variant,,ENST00000400864,;KIR2DP1,upstream_gene_variant,,ENST00000415311,; A ENSG00000243772 ENST00000342376 Transcript synonymous_variant 1035/1592 1002/1026 334/341 T acG/acA rs769945853,COSV100668172,COSV60901298 1 NA 1 KIR2DL3 HGNC HGNC:6331 protein_coding YES CCDS33107.1 ENSP00000342215 P43628.190 E3NZD8.82 UPI000012DB1C NM_015868.3 8/8 PANTHER:PTHR11738,PANTHER:PTHR11738:SF167 NA NA NA NA NA NA NA NA NA 0,1,1 NA NA NA NA LOW 1 SNV 1 NA 0,1,1 NA NA . CGG . 391.01 1.754e-05 NA 6.224e-05 NA 0.0001109 NA NA NA NA 54752495 KIR2DL1 3802 . GRCh38 chr19 54769866 54769866 + Missense_Mutation SNP G G A rs375195215 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.16G>A p.Val6Ile p.V6I ENST00000291633 1/9 NA NA NA NA NA NA KIR2DL1,missense_variant,p.Val6Ile,ENST00000336077,NM_014218.3;KIR2DL1,missense_variant,p.Val6Ile,ENST00000291633,;AC245128.1,intron_variant,,ENST00000400864,;KIR2DP1,downstream_gene_variant,,ENST00000415311,; A ENSG00000125498 ENST00000291633 Transcript missense_variant 42/1203 16/1125 6/374 V/I Gtc/Atc rs375195215 1 NA 1 KIR2DL1 HGNC HGNC:6329 protein_coding YES ENSP00000291633 P43626.180 UPI0000376068 tolerated_low_confidence(0.42) benign(0.001) 1/9 Cleavage_site_(Signalp):SignalP-noTM NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CGT . 123.6 2.055e-05 0.0001257 2.99e-05 NA NA NA 1.811e-05 NA NA 54769866 KIR2DL1 3802 . GRCh38 chr19 54773491 54773491 + Missense_Mutation SNP C C A rs200854975 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.229C>A p.His77Asn p.H77N ENST00000291633 3/9 NA NA NA NA NA NA KIR2DL1,missense_variant,p.His77Asn,ENST00000336077,NM_014218.3;KIR2DL1,missense_variant,p.His77Asn,ENST00000291633,;AC245128.1,intron_variant,,ENST00000400864,;,regulatory_region_variant,,ENSR00001026253,; A ENSG00000125498 ENST00000291633 Transcript missense_variant 255/1203 229/1125 77/374 H/N Cat/Aat rs200854975,COSV99382653 1 NA 1 KIR2DL1 HGNC HGNC:6329 protein_coding YES ENSP00000291633 P43626.180 UPI0000376068 deleterious(0.01) benign(0.181) 3/9 PANTHER:PTHR11738:SF167,PANTHER:PTHR11738,Pfam:PF00047,Gene3D:2.60.40.10,SMART:SM00409,Superfamily:SSF48726 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 1 NA 0,1 NA NA . CCA . 3112.6 1.642e-05 0.0001253 NA NA NA NA 1.819e-05 NA NA 54773491 KIR2DL1 3802 . GRCh38 chr19 54773492 54773492 + Missense_Mutation SNP A A T rs150190837 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.230A>T p.His77Leu p.H77L ENST00000291633 3/9 NA NA NA NA NA NA KIR2DL1,missense_variant,p.His77Leu,ENST00000336077,NM_014218.3;KIR2DL1,missense_variant,p.His77Leu,ENST00000291633,;AC245128.1,intron_variant,,ENST00000400864,;,regulatory_region_variant,,ENSR00001026253,; T ENSG00000125498 ENST00000291633 Transcript missense_variant 256/1203 230/1125 77/374 H/L cAt/cTt rs150190837 1 NA 1 KIR2DL1 HGNC HGNC:6329 protein_coding YES ENSP00000291633 P43626.180 UPI0000376068 deleterious(0.05) benign(0.003) 3/9 PANTHER:PTHR11738:SF167,PANTHER:PTHR11738,Pfam:PF00047,Gene3D:2.60.40.10,SMART:SM00409,Superfamily:SSF48726 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CAT . 3127.6 1.642e-05 0.0001253 NA NA NA NA 1.819e-05 NA NA 54773492 KIR2DL1 3802 . GRCh38 chr19 54773630 54773630 + Missense_Mutation SNP T T C rs80323556 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.368T>C p.Ile123Thr p.I123T ENST00000291633 3/9 NA NA NA NA NA NA KIR2DL1,missense_variant,p.Ile123Thr,ENST00000336077,NM_014218.3;KIR2DL1,missense_variant,p.Ile123Thr,ENST00000291633,;AC245128.1,intron_variant,,ENST00000400864,;,regulatory_region_variant,,ENSR00001026253,; C ENSG00000125498 ENST00000291633 Transcript missense_variant,splice_region_variant 394/1203 368/1125 123/374 I/T aTa/aCa rs80323556,COSV99382793 1 NA 1 KIR2DL1 HGNC HGNC:6329 protein_coding YES ENSP00000291633 P43626.180 UPI0000376068 tolerated(1) benign(0) 3/9 PANTHER:PTHR11738:SF167,PANTHER:PTHR11738,Gene3D:2.60.40.10,Superfamily:SSF48726 4e-04 8e-04 0.0014 NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 1 NA 0,1 NA NA . ATA . 3242.6 3.791e-05 0.0001899 0.0001546 NA NA NA 9.363e-06 NA NA 54773630 KIR2DL1 3802 . GRCh38 chr19 54775225 54775225 + Missense_Mutation SNP A A G rs574769826 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.431A>G p.Asn144Ser p.N144S ENST00000291633 4/9 NA NA NA NA NA NA KIR2DL1,missense_variant,p.Asn144Ser,ENST00000336077,NM_014218.3;KIR2DL1,missense_variant,p.Asn144Ser,ENST00000291633,;AC245128.1,intron_variant,,ENST00000400864,; G ENSG00000125498 ENST00000291633 Transcript missense_variant 457/1203 431/1125 144/374 N/S aAt/aGt rs574769826,COSV52409987 1 NA 1 KIR2DL1 HGNC HGNC:6329 protein_coding YES ENSP00000291633 P43626.180 UPI0000376068 tolerated(0.11) benign(0.007) 4/9 PANTHER:PTHR11738:SF167,PANTHER:PTHR11738,Pfam:PF00047,Gene3D:2.60.40.10,SMART:SM00409,Superfamily:SSF48726 0.0102 0.003 0.0086 NA 0.003 0.004 0.0348 NA NA 0,1 NA NA NA NA MODERATE 1 SNV 1 NA 0,1 NA NA . AAT . 4185.6 5.39e-05 NA 9.551e-05 0.0001189 5.583e-05 NA 6.919e-05 NA NA 54775225 KIR2DL1 3802 . GRCh38 chr19 54775305 54775305 + Missense_Mutation SNP C C T rs202205602 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.511C>T p.Leu171Phe p.L171F ENST00000291633 4/9 NA NA NA NA NA NA KIR2DL1,missense_variant,p.Leu171Phe,ENST00000336077,NM_014218.3;KIR2DL1,missense_variant,p.Leu171Phe,ENST00000291633,;AC245128.1,intron_variant,,ENST00000400864,; T ENSG00000125498 ENST00000291633 Transcript missense_variant 537/1203 511/1125 171/374 L/F Ctc/Ttc rs202205602,COSV52409245 1 NA 1 KIR2DL1 HGNC HGNC:6329 protein_coding YES ENSP00000291633 P43626.180 UPI0000376068 deleterious(0.05) benign(0.007) 4/9 PANTHER:PTHR11738:SF167,PANTHER:PTHR11738,Pfam:PF00047,Gene3D:2.60.40.10,SMART:SM00409,Superfamily:SSF48726 0.0651 0.0408 0.0533 NA 0.0188 0.0656 0.1534 NA NA 0,1 NA NA NA NA MODERATE 1 SNV 1 NA 0,1 NA NA . GCT . 1025.6 2.204e-05 NA 6.233e-05 NA NA 4.944e-05 9.706e-06 NA 4.012e-05 54775305 KIR2DL1 3802 . GRCh38 chr19 54775308 54775308 + Missense_Mutation SNP C C T rs200492424 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.514C>T p.Pro172Ser p.P172S ENST00000291633 4/9 NA NA NA NA NA NA KIR2DL1,missense_variant,p.Pro172Ser,ENST00000336077,NM_014218.3;KIR2DL1,missense_variant,p.Pro172Ser,ENST00000291633,;AC245128.1,intron_variant,,ENST00000400864,; T ENSG00000125498 ENST00000291633 Transcript missense_variant 540/1203 514/1125 172/374 P/S Cct/Tct rs200492424,COSV52415077 1 NA 1 KIR2DL1 HGNC HGNC:6329 protein_coding YES ENSP00000291633 P43626.180 UPI0000376068 tolerated(0.26) benign(0.003) 4/9 PANTHER:PTHR11738:SF167,PANTHER:PTHR11738,Pfam:PF00047,Gene3D:2.60.40.10,SMART:SM00409,Superfamily:SSF48726 0.0651 0.0408 0.0533 NA 0.0188 0.0656 0.1534 NA NA 0,1 NA NA NA NA MODERATE 1 SNV 1 NA 0,1 NA NA . CCC . 1052.6 2.205e-05 NA 6.234e-05 NA NA 4.946e-05 9.711e-06 NA 4.012e-05 54775308 KIR2DL1 3802 . GRCh38 chr19 54775317 54775317 + Missense_Mutation SNP C C A rs111799279 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.523C>A p.Pro175Thr p.P175T ENST00000291633 4/9 NA NA NA NA NA NA KIR2DL1,missense_variant,p.Pro175Thr,ENST00000336077,NM_014218.3;KIR2DL1,missense_variant,p.Pro175Thr,ENST00000291633,;AC245128.1,intron_variant,,ENST00000400864,; A ENSG00000125498 ENST00000291633 Transcript missense_variant 549/1203 523/1125 175/374 P/T Ccc/Acc rs111799279 1 NA 1 KIR2DL1 HGNC HGNC:6329 protein_coding YES ENSP00000291633 P43626.180 UPI0000376068 tolerated(0.24) benign(0) 4/9 PANTHER:PTHR11738:SF167,PANTHER:PTHR11738,Pfam:PF00047,Gene3D:2.60.40.10,SMART:SM00409,Superfamily:SSF48726 NA NA NA NA NA NA NA 0.000239 NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . GCC . 7992.6 7.928e-05 6.879e-05 0.000249 NA NA NA 4.849e-05 NA 0.0001602 54775317 KIR2DL1 3802 . GRCh38 chr19 54775329 54775329 + Missense_Mutation SNP G G A rs62121640 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.535G>A p.Gly179Arg p.G179R ENST00000291633 4/9 NA NA NA NA NA NA KIR2DL1,missense_variant,p.Gly179Arg,ENST00000336077,NM_014218.3;KIR2DL1,missense_variant,p.Gly179Arg,ENST00000291633,;AC245128.1,intron_variant,,ENST00000400864,; A ENSG00000125498 ENST00000291633 Transcript missense_variant 561/1203 535/1125 179/374 G/R Gga/Aga rs62121640 1 NA 1 KIR2DL1 HGNC HGNC:6329 protein_coding YES ENSP00000291633 P43626.180 UPI0000376068 tolerated(0.06) benign(0.347) 4/9 PANTHER:PTHR11738:SF167,PANTHER:PTHR11738,Pfam:PF00047,Gene3D:2.60.40.10,SMART:SM00409,Superfamily:SSF48726 4e-04 NA NA NA NA NA 0.002 NA 0.0002408 NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CGG . 7107.6 5.724e-05 6.957e-05 6.224e-05 0.0002316 NA NA 9.683e-06 NA 0.00028 54775329 KIR2DL1 3802 . GRCh38 chr19 54775344 54775344 + Missense_Mutation SNP G G A rs147072532 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.550G>A p.Asp184Asn p.D184N ENST00000291633 4/9 NA NA NA NA NA NA KIR2DL1,missense_variant,p.Asp184Asn,ENST00000336077,NM_014218.3;KIR2DL1,missense_variant,p.Asp184Asn,ENST00000291633,;AC245128.1,intron_variant,,ENST00000400864,; A ENSG00000125498 ENST00000291633 Transcript missense_variant 576/1203 550/1125 184/374 D/N Gac/Aac rs147072532,COSV52410815 1 NA 1 KIR2DL1 HGNC HGNC:6329 protein_coding YES ENSP00000291633 P43626.180 UPI0000376068 tolerated(0.34) benign(0.003) 4/9 PANTHER:PTHR11738:SF167,PANTHER:PTHR11738,Pfam:PF00047,Gene3D:2.60.40.10,SMART:SM00409,Superfamily:SSF48726 4e-04 NA 0.0029 NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 1 NA 0,1 NA NA . TGA . 5106.6 NA NA NA NA NA NA NA NA NA 54775344 KIR2DL1 3802 . GRCh38 chr19 54783517 54783517 + Silent SNP A A G rs586234 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.927A>G p.Gly309= p.G309= ENST00000291633 8/9 NA NA NA NA NA NA KIR2DL1,synonymous_variant,p.Gly283=,ENST00000336077,NM_014218.3;KIR2DL1,synonymous_variant,p.Gly309=,ENST00000291633,;AC245128.1,intron_variant,,ENST00000400864,;KIR3DP1,upstream_gene_variant,,ENST00000580853,; G ENSG00000125498 ENST00000291633 Transcript synonymous_variant 953/1203 927/1125 309/374 G ggA/ggG rs586234 1 NA 1 KIR2DL1 HGNC HGNC:6329 protein_coding YES ENSP00000291633 P43626.180 UPI0000376068 8/9 PANTHER:PTHR11738:SF167,PANTHER:PTHR11738 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . GAA . 11658.6 8.197e-06 NA 2.993e-05 NA NA NA NA NA 3.379e-05 54783517 KIR2DL4 3805 . GRCh38 chr19 54804874 54804874 + Missense_Mutation SNP A A G rs618835 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.275A>G p.Tyr92Cys p.Y92C ENST00000396284 3/8 NA NA NA NA NA NA KIR2DL4,missense_variant,p.Tyr92Cys,ENST00000396284,;KIR2DL4,missense_variant,p.Tyr52Cys,ENST00000396289,;KIR2DL4,missense_variant,p.Tyr53Cys,ENST00000359085,NM_001080772.2;KIR2DL4,missense_variant,p.Tyr53Cys,ENST00000345540,NM_001080770.2;KIR2DL4,missense_variant,p.Tyr53Cys,ENST00000357494,;KIR2DL4,intron_variant,,ENST00000346587,;KIR2DL4,intron_variant,,ENST00000396293,;KIR2DL4,non_coding_transcript_exon_variant,,ENST00000463062,;KIR2DL4,non_coding_transcript_exon_variant,,ENST00000486965,; G ENSG00000189013 ENST00000396284 Transcript missense_variant 275/1656 275/1251 92/416 Y/C tAt/tGt rs618835 1 NA 1 KIR2DL4 HGNC HGNC:6332 protein_coding YES ENSP00000379580 E7EST5.69 UPI0004E4C8FD deleterious(0.01) benign(0.026) 3/8 PANTHER:PTHR11738,PANTHER:PTHR11738:SF158,Pfam:PF00047,Gene3D:2.60.40.10,SMART:SM00409,Superfamily:SSF48726 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA 1 NA NA . TAT . 12423.03 NA NA NA NA NA NA NA NA NA 54804874 KIR2DL4 3805 . GRCh38 chr19 54813219 54813220 + Frame_Shift_Ins INS - - A rs11371265 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.927dup p.Asp310ArgfsTer21 p.D310Rfs*21 ENST00000396284 6/8 NA NA NA NA NA NA KIR2DL4,frameshift_variant,p.Asp310ArgfsTer21,ENST00000396284,;KIR2DL4,frameshift_variant,p.Val270SerfsTer43,ENST00000396289,;KIR2DL4,frameshift_variant,p.Met271AsnfsTer108,ENST00000359085,NM_001080772.2;KIR2DL4,intron_variant,,ENST00000345540,NM_001080770.2;KIR2DL4,intron_variant,,ENST00000346587,;KIR2DL4,intron_variant,,ENST00000357494,;KIR2DL4,intron_variant,,ENST00000396293,;KIR3DL1,upstream_gene_variant,,ENST00000326542,;KIR3DL1,upstream_gene_variant,,ENST00000358178,;KIR3DL1,upstream_gene_variant,,ENST00000391728,NM_013289.2;KIR2DL4,non_coding_transcript_exon_variant,,ENST00000463062,;KIR2DL4,intron_variant,,ENST00000486965,; A ENSG00000189013 ENST00000396284 Transcript frameshift_variant 918-919/1656 918-919/1251 306-307/416 -/X -/A rs11371265 1 NA 1 KIR2DL4 HGNC HGNC:6332 protein_coding YES ENSP00000379580 E7EST5.69 UPI0004E4C8FD 6/8 PANTHER:PTHR11738,PANTHER:PTHR11738:SF158 NA NA NA NA NA NA NA NA NA 29234882,26973020,31497017 NA NA NA NA HIGH 1 insertion 1 9 NA NA . CCA . 1074.64 NA NA NA NA NA NA NA NA NA 54813219 KIR3DL1 3812 . GRCh38 chr19 54818367 54818367 + Silent SNP A A C rs642941 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.123A>C p.Arg41= p.R41= ENST00000391728 3/9 NA NA NA NA NA NA KIR3DL1,synonymous_variant,p.Arg41=,ENST00000391728,NM_013289.2;KIR3DL1,synonymous_variant,p.Arg41=,ENST00000326542,;KIR3DL1,intron_variant,,ENST00000358178,;KIR2DL4,downstream_gene_variant,,ENST00000345540,NM_001080770.2;KIR2DL4,downstream_gene_variant,,ENST00000346587,;KIR2DL4,downstream_gene_variant,,ENST00000357494,;KIR2DL4,downstream_gene_variant,,ENST00000359085,NM_001080772.2;KIR2DL4,downstream_gene_variant,,ENST00000396284,;KIR2DL4,downstream_gene_variant,,ENST00000396289,;KIR2DL4,downstream_gene_variant,,ENST00000396293,;KIR2DL4,downstream_gene_variant,,ENST00000463062,;KIR2DL4,downstream_gene_variant,,ENST00000486965,; C ENSG00000167633 ENST00000391728 Transcript synonymous_variant 156/1871 123/1335 41/444 R cgA/cgC rs642941,COSV58492786 1 NA 1 KIR3DL1 HGNC HGNC:6338 protein_coding YES CCDS42621.1 ENSP00000375608 P43629.186 Q5UCE2.113 UPI000012DB24 NM_013289.2 3/9 PDB-ENSP_mappings:3vh8.G,PDB-ENSP_mappings:3vh8.H,PDB-ENSP_mappings:3wuw.G,PDB-ENSP_mappings:5b38.G,PDB-ENSP_mappings:5b39.G,PDB-ENSP_mappings:5t6z.G,PDB-ENSP_mappings:5t70.G,PDB-ENSP_mappings:6v3j.G,CDD:cd05711,PANTHER:PTHR11738:SF166,PANTHER:PTHR11738,Pfam:PF00047,Gene3D:2.60.40.10,SMART:SM00409,Superfamily:SSF48726 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA LOW 1 SNV 1 NA 0,1 NA 1 . GAG . 7375.03 NA NA NA NA NA NA NA NA NA 54818367 KIR3DL1 3812 . GRCh38 chr19 54818479 54818479 + Missense_Mutation SNP A A G rs634254 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.235A>G p.Ser79Gly p.S79G ENST00000391728 3/9 NA NA NA NA NA NA KIR3DL1,missense_variant,p.Ser79Gly,ENST00000391728,NM_013289.2;KIR3DL1,missense_variant,p.Ser79Gly,ENST00000326542,;KIR3DL1,intron_variant,,ENST00000358178,;KIR2DL4,downstream_gene_variant,,ENST00000345540,NM_001080770.2;KIR2DL4,downstream_gene_variant,,ENST00000346587,;KIR2DL4,downstream_gene_variant,,ENST00000357494,;KIR2DL4,downstream_gene_variant,,ENST00000359085,NM_001080772.2;KIR2DL4,downstream_gene_variant,,ENST00000396284,;KIR2DL4,downstream_gene_variant,,ENST00000396289,;KIR2DL4,downstream_gene_variant,,ENST00000396293,;KIR2DL4,downstream_gene_variant,,ENST00000463062,;KIR2DL4,downstream_gene_variant,,ENST00000486965,; G ENSG00000167633 ENST00000391728 Transcript missense_variant 268/1871 235/1335 79/444 S/G Agc/Ggc rs634254,COSV58491087 1 NA 1 KIR3DL1 HGNC HGNC:6338 protein_coding YES CCDS42621.1 ENSP00000375608 P43629.186 Q5UCE2.113 UPI000012DB24 NM_013289.2 tolerated(0.16) benign(0.424) 3/9 PDB-ENSP_mappings:3vh8.G,PDB-ENSP_mappings:3vh8.H,PDB-ENSP_mappings:3wuw.G,PDB-ENSP_mappings:5b38.G,PDB-ENSP_mappings:5b39.G,PDB-ENSP_mappings:5t6z.G,PDB-ENSP_mappings:5t70.G,PDB-ENSP_mappings:6v3j.G,CDD:cd05711,PANTHER:PTHR11738:SF166,PANTHER:PTHR11738,Pfam:PF00047,Gene3D:2.60.40.10,SMART:SM00409,Superfamily:SSF48726 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 1 NA 0,1 NA 1 . GAG . 19456.03 4.296e-06 NA 3.12e-05 NA NA NA NA NA NA 54818479 KIR3DL1 3812 . GRCh38 chr19 54818581 54818581 + Missense_Mutation SNP G G A rs643861 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.337G>A p.Val113Met p.V113M ENST00000391728 3/9 NA NA NA NA NA NA KIR3DL1,missense_variant,p.Val113Met,ENST00000391728,NM_013289.2;KIR3DL1,missense_variant,p.Val113Met,ENST00000326542,;KIR3DL1,intron_variant,,ENST00000358178,;KIR2DL4,downstream_gene_variant,,ENST00000345540,NM_001080770.2;KIR2DL4,downstream_gene_variant,,ENST00000346587,;KIR2DL4,downstream_gene_variant,,ENST00000357494,;KIR2DL4,downstream_gene_variant,,ENST00000359085,NM_001080772.2;KIR2DL4,downstream_gene_variant,,ENST00000396284,;KIR2DL4,downstream_gene_variant,,ENST00000396289,;KIR2DL4,downstream_gene_variant,,ENST00000396293,;KIR2DL4,downstream_gene_variant,,ENST00000463062,;KIR2DL4,downstream_gene_variant,,ENST00000486965,; A ENSG00000167633 ENST00000391728 Transcript missense_variant 370/1871 337/1335 113/444 V/M Gtg/Atg rs643861 1 NA 1 KIR3DL1 HGNC HGNC:6338 protein_coding YES CCDS42621.1 ENSP00000375608 P43629.186 Q5UCE2.113 UPI000012DB24 NM_013289.2 deleterious(0) benign(0.087) 3/9 PDB-ENSP_mappings:3vh8.G,PDB-ENSP_mappings:3vh8.H,PDB-ENSP_mappings:3wuw.G,PDB-ENSP_mappings:5b38.G,PDB-ENSP_mappings:5b39.G,PDB-ENSP_mappings:5t6z.G,PDB-ENSP_mappings:5t70.G,PDB-ENSP_mappings:6v3j.G,CDD:cd05711,PANTHER:PTHR11738:SF166,PANTHER:PTHR11738,Gene3D:2.60.40.10,SMART:SM00409,Superfamily:SSF48726 NA NA NA NA NA NA NA NA 0.0002421 31921204 NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . CGT . 23252.03 0.0001886 NA 9.532e-05 NA NA NA 0.0003692 0.0001779 NA 54818581 KIR3DL1 3812 . GRCh38 chr19 54819832 54819832 + Missense_Mutation SNP G G T rs652641 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.475G>T p.Gly159Trp p.G159W ENST00000391728 4/9 NA NA NA NA NA NA KIR3DL1,missense_variant,p.Gly159Trp,ENST00000391728,NM_013289.2;KIR3DL1,missense_variant,p.Gly159Trp,ENST00000326542,;KIR3DL1,missense_variant,p.Gly64Trp,ENST00000358178,;,regulatory_region_variant,,ENSR00001026257,; T ENSG00000167633 ENST00000391728 Transcript missense_variant 508/1871 475/1335 159/444 G/W Ggg/Tgg rs652641,COSV58491108 1 NA 1 KIR3DL1 HGNC HGNC:6338 protein_coding YES CCDS42621.1 ENSP00000375608 P43629.186 Q5UCE2.113 UPI000012DB24 NM_013289.2 deleterious(0) possibly_damaging(0.59) 4/9 PDB-ENSP_mappings:3vh8.G,PDB-ENSP_mappings:3vh8.H,PDB-ENSP_mappings:3wuw.G,PDB-ENSP_mappings:5b38.G,PDB-ENSP_mappings:5b39.G,PDB-ENSP_mappings:5t6z.G,PDB-ENSP_mappings:5t70.G,PDB-ENSP_mappings:6v3j.G,CDD:cd05711,PANTHER:PTHR11738:SF166,PANTHER:PTHR11738,Pfam:PF00047,Gene3D:2.60.40.10,SMART:SM00409,Superfamily:SSF48726 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 1 NA 0,1 NA 1 . GGG . 11087.03 NA NA NA NA NA NA NA NA NA 54819832 KIR3DL1 3812 . GRCh38 chr19 54819907 54819907 + Missense_Mutation SNP C C T rs652741 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.550C>T p.Pro184Ser p.P184S ENST00000391728 4/9 NA NA NA NA NA NA KIR3DL1,missense_variant,p.Pro184Ser,ENST00000391728,NM_013289.2;KIR3DL1,missense_variant,p.Pro184Ser,ENST00000326542,;KIR3DL1,missense_variant,p.Pro89Ser,ENST00000358178,;,regulatory_region_variant,,ENSR00001026257,; T ENSG00000167633 ENST00000391728 Transcript missense_variant 583/1871 550/1335 184/444 P/S Ccc/Tcc rs652741,COSV58491121 1 NA 1 KIR3DL1 HGNC HGNC:6338 protein_coding YES CCDS42621.1 ENSP00000375608 P43629.186 Q5UCE2.113 UPI000012DB24 NM_013289.2 tolerated(0.12) possibly_damaging(0.581) 4/9 PDB-ENSP_mappings:3vh8.G,PDB-ENSP_mappings:3vh8.H,PDB-ENSP_mappings:3wuw.G,PDB-ENSP_mappings:5b38.G,PDB-ENSP_mappings:5b39.G,PDB-ENSP_mappings:5t6z.G,PDB-ENSP_mappings:5t70.G,PDB-ENSP_mappings:6v3j.G,CDD:cd05711,PANTHER:PTHR11738:SF166,PANTHER:PTHR11738,Pfam:PF00047,Gene3D:2.60.40.10,SMART:SM00409,Superfamily:SSF48726 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 1 NA 0,1 NA 1 . TCC . 21252.03 NA NA NA NA NA NA NA NA NA 54819907 KIR3DL1 3812 . GRCh38 chr19 54819917 54819917 + Missense_Mutation SNP T T G rs660405 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.560T>G p.Leu187Arg p.L187R ENST00000391728 4/9 NA NA NA NA NA NA KIR3DL1,missense_variant,p.Leu187Arg,ENST00000391728,NM_013289.2;KIR3DL1,missense_variant,p.Leu187Arg,ENST00000326542,;KIR3DL1,missense_variant,p.Leu92Arg,ENST00000358178,;,regulatory_region_variant,,ENSR00001026257,; G ENSG00000167633 ENST00000391728 Transcript missense_variant 593/1871 560/1335 187/444 L/R cTt/cGt rs660405,COSV58491134 1 NA 1 KIR3DL1 HGNC HGNC:6338 protein_coding YES CCDS42621.1 ENSP00000375608 P43629.186 Q5UCE2.113 UPI000012DB24 NM_013289.2 tolerated(0.38) benign(0.009) 4/9 PDB-ENSP_mappings:3vh8.G,PDB-ENSP_mappings:3vh8.H,PDB-ENSP_mappings:3wuw.G,PDB-ENSP_mappings:5b38.G,PDB-ENSP_mappings:5b39.G,PDB-ENSP_mappings:5t6z.G,PDB-ENSP_mappings:5t70.G,PDB-ENSP_mappings:6v3j.G,CDD:cd05711,PANTHER:PTHR11738:SF166,PANTHER:PTHR11738,Pfam:PF00047,Gene3D:2.60.40.10,SMART:SM00409,Superfamily:SSF48726 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 1 NA 0,1 NA 1 . CTT . 21699.03 NA NA NA NA NA NA NA NA NA 54819917 KIR3DL1 3812 . GRCh38 chr19 54821712 54821712 + Missense_Mutation SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.803C>T p.Ala268Val p.A268V ENST00000391728 5/9 NA NA NA NA NA NA KIR3DL1,missense_variant,p.Ala268Val,ENST00000391728,NM_013289.2;KIR3DL1,missense_variant,p.Ala268Val,ENST00000326542,;KIR3DL1,missense_variant,p.Ala173Val,ENST00000358178,; T ENSG00000167633 ENST00000391728 Transcript missense_variant 836/1871 803/1335 268/444 A/V gCa/gTa 1 NA 1 KIR3DL1 HGNC HGNC:6338 protein_coding YES CCDS42621.1 ENSP00000375608 P43629.186 Q5UCE2.113 UPI000012DB24 NM_013289.2 deleterious(0.02) benign(0.311) 5/9 PDB-ENSP_mappings:3vh8.G,PDB-ENSP_mappings:3vh8.H,PDB-ENSP_mappings:3wuw.G,PDB-ENSP_mappings:5b38.G,PDB-ENSP_mappings:5b39.G,PDB-ENSP_mappings:5t6z.G,PDB-ENSP_mappings:5t70.G,PDB-ENSP_mappings:6v3j.G,PANTHER:PTHR11738:SF166,PANTHER:PTHR11738,Pfam:PF00047,Gene3D:2.60.40.10,SMART:SM00409,Superfamily:SSF48726 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . GCA . 11117.6 NA NA NA NA NA NA NA NA NA 54821712 KIR3DL1 3812 . GRCh38 chr19 54829932 54829932 + Silent SNP T T A rs1206102948 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1110T>A p.Ala370= p.A370= ENST00000391728 8/9 NA NA NA NA NA NA KIR3DL1,synonymous_variant,p.Ala370=,ENST00000391728,NM_013289.2;KIR3DL1,synonymous_variant,p.Ala353=,ENST00000326542,;KIR3DL1,synonymous_variant,p.Ala275=,ENST00000358178,;KIR2DS4,upstream_gene_variant,,ENST00000339924,;KIR2DS4,upstream_gene_variant,,ENST00000391729,NM_001281971.2,NM_001281972.2; A ENSG00000167633 ENST00000391728 Transcript synonymous_variant 1143/1871 1110/1335 370/444 A gcT/gcA rs1206102948,COSV58492710 1 NA 1 KIR3DL1 HGNC HGNC:6338 protein_coding YES CCDS42621.1 ENSP00000375608 P43629.186 Q5UCE2.113 UPI000012DB24 NM_013289.2 8/9 PANTHER:PTHR11738:SF166,PANTHER:PTHR11738 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA LOW 1 SNV 1 NA 0,1 NA 1 . CTG . 948.6 NA NA NA NA NA NA NA NA NA 54829932 KIR3DL1 3812 . GRCh38 chr19 54829933 54829933 + Missense_Mutation SNP G G T rs1350502368 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1111G>T p.Ala371Ser p.A371S ENST00000391728 8/9 NA NA NA NA NA NA KIR3DL1,missense_variant,p.Ala371Ser,ENST00000391728,NM_013289.2;KIR3DL1,missense_variant,p.Ala354Ser,ENST00000326542,;KIR3DL1,missense_variant,p.Ala276Ser,ENST00000358178,;KIR2DS4,upstream_gene_variant,,ENST00000339924,;KIR2DS4,upstream_gene_variant,,ENST00000391729,NM_001281971.2,NM_001281972.2; T ENSG00000167633 ENST00000391728 Transcript missense_variant 1144/1871 1111/1335 371/444 A/S Gct/Tct rs1350502368 1 NA 1 KIR3DL1 HGNC HGNC:6338 protein_coding YES CCDS42621.1 ENSP00000375608 P43629.186 Q5UCE2.113 UPI000012DB24 NM_013289.2 tolerated(0.12) benign(0.015) 8/9 PANTHER:PTHR11738:SF166,PANTHER:PTHR11738 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . TGC . 948.6 NA NA NA NA NA NA NA NA NA 54829933 KIR3DL1 3812 . GRCh38 chr19 54829949 54829949 + Missense_Mutation SNP A A G rs543079687 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1127A>G p.Glu376Gly p.E376G ENST00000391728 8/9 NA NA NA NA NA NA KIR3DL1,missense_variant,p.Glu376Gly,ENST00000391728,NM_013289.2;KIR3DL1,missense_variant,p.Glu359Gly,ENST00000326542,;KIR3DL1,missense_variant,p.Glu281Gly,ENST00000358178,;KIR2DS4,upstream_gene_variant,,ENST00000339924,;KIR2DS4,upstream_gene_variant,,ENST00000391729,NM_001281971.2,NM_001281972.2; G ENSG00000167633 ENST00000391728 Transcript missense_variant 1160/1871 1127/1335 376/444 E/G gAg/gGg rs543079687 1 NA 1 KIR3DL1 HGNC HGNC:6338 protein_coding YES CCDS42621.1 ENSP00000375608 P43629.186 Q5UCE2.113 UPI000012DB24 NM_013289.2 deleterious(0.03) benign(0.028) 8/9 MobiDB_lite:mobidb-lite,PANTHER:PTHR11738:SF166,PANTHER:PTHR11738 4e-04 NA NA NA NA 0.002 NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . GAG . 748.6 NA NA NA NA NA NA NA NA NA 54829949 KIR3DL1 3812 . GRCh38 chr19 54829956 54829956 + Silent SNP A A G rs1384102720 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1134A>G p.Ala378= p.A378= ENST00000391728 8/9 NA NA NA NA NA NA KIR3DL1,synonymous_variant,p.Ala378=,ENST00000391728,NM_013289.2;KIR3DL1,synonymous_variant,p.Ala361=,ENST00000326542,;KIR3DL1,synonymous_variant,p.Ala283=,ENST00000358178,;KIR2DS4,upstream_gene_variant,,ENST00000339924,;KIR2DS4,upstream_gene_variant,,ENST00000391729,NM_001281971.2,NM_001281972.2; G ENSG00000167633 ENST00000391728 Transcript synonymous_variant 1167/1871 1134/1335 378/444 A gcA/gcG rs1384102720 1 NA 1 KIR3DL1 HGNC HGNC:6338 protein_coding YES CCDS42621.1 ENSP00000375608 P43629.186 Q5UCE2.113 UPI000012DB24 NM_013289.2 8/9 MobiDB_lite:mobidb-lite,PANTHER:PTHR11738:SF166,PANTHER:PTHR11738 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . CAG . 706.6 NA NA NA NA NA NA NA NA NA 54829956 KIR3DL1 3812 . GRCh38 chr19 54829966 54829967 + Frame_Shift_Del DEL AC AC - rs1556621223 NA HCI-EC-23 NORMAL AC AC NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1145_1146del p.Thr382SerfsTer7 p.T382Sfs*7 ENST00000391728 8/9 NA NA NA NA NA NA KIR3DL1,frameshift_variant,p.Thr382SerfsTer7,ENST00000391728,NM_013289.2;KIR3DL1,frameshift_variant,p.Thr365SerfsTer7,ENST00000326542,;KIR3DL1,frameshift_variant,p.Thr287SerfsTer7,ENST00000358178,;KIR2DS4,upstream_gene_variant,,ENST00000339924,;KIR2DS4,upstream_gene_variant,,ENST00000391729,NM_001281971.2,NM_001281972.2; - ENSG00000167633 ENST00000391728 Transcript frameshift_variant 1177-1178/1871 1144-1145/1335 382/444 T/X ACa/a rs1556621223 1 NA 1 KIR3DL1 HGNC HGNC:6338 protein_coding YES CCDS42621.1 ENSP00000375608 P43629.186 Q5UCE2.113 UPI000012DB24 NM_013289.2 8/9 MobiDB_lite:mobidb-lite,PANTHER:PTHR11738:SF166,PANTHER:PTHR11738 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 1 NA 1 . GAACA . 589.6 NA NA NA NA NA NA NA NA NA 54829965 KIR3DL1 3812 . GRCh38 chr19 54829977 54829977 + Missense_Mutation SNP C C G rs550773169 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1155C>G p.Ser385Arg p.S385R ENST00000391728 8/9 NA NA NA NA NA NA KIR3DL1,missense_variant,p.Ser385Arg,ENST00000391728,NM_013289.2;KIR3DL1,missense_variant,p.Ser368Arg,ENST00000326542,;KIR3DL1,missense_variant,p.Ser290Arg,ENST00000358178,;KIR2DS4,upstream_gene_variant,,ENST00000339924,;KIR2DS4,upstream_gene_variant,,ENST00000391729,NM_001281971.2,NM_001281972.2; G ENSG00000167633 ENST00000391728 Transcript missense_variant 1188/1871 1155/1335 385/444 S/R agC/agG rs550773169,COSV100373117 1 NA 1 KIR3DL1 HGNC HGNC:6338 protein_coding YES CCDS42621.1 ENSP00000375608 P43629.186 Q5UCE2.113 UPI000012DB24 NM_013289.2 tolerated(1) benign(0) 8/9 MobiDB_lite:mobidb-lite,PANTHER:PTHR11738:SF166,PANTHER:PTHR11738 8e-04 NA 0.0014 NA NA 0.003 NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 1 NA 0,1 NA 1 . GCG . 994.6 2.987e-05 NA NA NA NA NA 5.563e-05 0.0001737 NA 54829977 KIR2DS4 3809 . GRCh38 chr19 54837734 54837734 + Missense_Mutation SNP C C A rs746988564 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.229C>A p.His77Asn p.H77N ENST00000339924 3/8 NA NA NA NA NA NA ,regulatory_region_variant,,ENSR00000593780,;KIR2DS4,missense_variant,p.His77Asn,ENST00000339924,;KIR2DS4,missense_variant,p.His77Asn,ENST00000391729,NM_001281971.2,NM_001281972.2; A ENSG00000221957 ENST00000339924 Transcript missense_variant 318/1608 229/893 77/297 H/N Cat/Aat rs746988564 1 NA 1 KIR2DS4 HGNC HGNC:6336 polymorphic_pseudogene YES ENSP00000340011 deleterious_low_confidence(0.02) probably_damaging(0.929) 3/8 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CCA . 35.44 2.543e-05 NA NA NA NA NA 5.545e-05 NA NA 54837734 KIR2DS4 3809 . GRCh38 chr19 54837735 54837735 + Missense_Mutation SNP A A T rs757024111 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.230A>T p.His77Leu p.H77L ENST00000339924 3/8 NA NA NA NA NA NA ,regulatory_region_variant,,ENSR00000593780,;KIR2DS4,missense_variant,p.His77Leu,ENST00000339924,;KIR2DS4,missense_variant,p.His77Leu,ENST00000391729,NM_001281971.2,NM_001281972.2; T ENSG00000221957 ENST00000339924 Transcript missense_variant 319/1608 230/893 77/297 H/L cAt/cTt rs757024111 1 NA 1 KIR2DS4 HGNC HGNC:6336 polymorphic_pseudogene YES ENSP00000340011 tolerated_low_confidence(0.05) benign(0.199) 3/8 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CAT . 35.44 2.543e-05 NA NA NA NA NA 5.545e-05 NA NA 54837735 KIR2DS4 3809 . GRCh38 chr19 54837745 54837745 + Silent SNP T T C rs3189398 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.240T>C p.Val80= p.V80= ENST00000339924 3/8 NA NA NA NA NA NA ,regulatory_region_variant,,ENSR00000593780,;KIR2DS4,synonymous_variant,p.Val80=,ENST00000339924,;KIR2DS4,synonymous_variant,p.Val80=,ENST00000391729,NM_001281971.2,NM_001281972.2; C ENSG00000221957 ENST00000339924 Transcript synonymous_variant 329/1608 240/893 80/297 V gtT/gtC rs3189398 1 NA 1 KIR2DS4 HGNC HGNC:6336 polymorphic_pseudogene YES ENSP00000340011 3/8 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . TTT . 73.28 NA NA NA NA NA NA NA NA NA 54837745 KIR2DS4 3809 . GRCh38 chr19 54837771 54837771 + Missense_Mutation SNP C C G rs1130487 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.266C>G p.Pro89Arg p.P89R ENST00000339924 3/8 NA NA NA NA NA NA ,regulatory_region_variant,,ENSR00000593780,;KIR2DS4,missense_variant,p.Pro89Arg,ENST00000339924,;KIR2DS4,missense_variant,p.Pro89Arg,ENST00000391729,NM_001281971.2,NM_001281972.2; G ENSG00000221957 ENST00000339924 Transcript missense_variant 355/1608 266/893 89/297 P/R cCc/cGc rs1130487 1 NA 1 KIR2DS4 HGNC HGNC:6336 polymorphic_pseudogene YES ENSP00000340011 deleterious_low_confidence(0.01) possibly_damaging(0.558) 3/8 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CCC . 3586.03 NA NA NA NA NA NA NA NA NA 54837771 KIR2DS4 3809 . GRCh38 chr19 54837777 54837777 + Missense_Mutation SNP T T C rs879177505 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.272T>C p.Met91Thr p.M91T ENST00000339924 3/8 NA NA NA NA NA NA ,regulatory_region_variant,,ENSR00000593780,;KIR2DS4,missense_variant,p.Met91Thr,ENST00000339924,;KIR2DS4,missense_variant,p.Met91Thr,ENST00000391729,NM_001281971.2,NM_001281972.2; C ENSG00000221957 ENST00000339924 Transcript missense_variant 361/1608 272/893 91/297 M/T aTg/aCg rs879177505 1 NA 1 KIR2DS4 HGNC HGNC:6336 polymorphic_pseudogene YES ENSP00000340011 tolerated_low_confidence(1) benign(0.013) 3/8 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . ATG . 3342.02 NA NA NA NA NA NA NA NA NA 54837777 KIR2DS4 3809 . GRCh38 chr19 54837787 54837787 + Silent SNP T T G rs879035239 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.282T>G p.Leu94= p.L94= ENST00000339924 3/8 NA NA NA NA NA NA ,regulatory_region_variant,,ENSR00000593780,;KIR2DS4,synonymous_variant,p.Leu94=,ENST00000339924,;KIR2DS4,synonymous_variant,p.Leu94=,ENST00000391729,NM_001281971.2,NM_001281972.2; G ENSG00000221957 ENST00000339924 Transcript synonymous_variant 371/1608 282/893 94/297 L ctT/ctG rs879035239 1 NA 1 KIR2DS4 HGNC HGNC:6336 polymorphic_pseudogene YES ENSP00000340011 3/8 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . TTG . 3863.03 NA NA NA NA NA NA NA NA NA 54837787 KIR2DS4 3809 . GRCh38 chr19 54837838 54837838 + Missense_Mutation SNP G G T rs142635942 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.333G>T p.Leu111Phe p.L111F ENST00000339924 3/8 NA NA NA NA NA NA ,regulatory_region_variant,,ENSR00000593780,;KIR2DS4,missense_variant,p.Leu111Phe,ENST00000339924,;KIR2DS4,missense_variant,p.Leu111Phe,ENST00000391729,NM_001281971.2,NM_001281972.2; T ENSG00000221957 ENST00000339924 Transcript missense_variant 422/1608 333/893 111/297 L/F ttG/ttT rs142635942 1 NA 1 KIR2DS4 HGNC HGNC:6336 polymorphic_pseudogene YES ENSP00000340011 deleterious_low_confidence(0.02) benign(0.058) 3/8 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . TGT . 2910.6 5.504e-05 0.0001882 6.162e-05 0.0001084 5.662e-05 NA 4.626e-05 0.0001729 NA 54837838 KIR2DS4 3809 . GRCh38 chr19 54837844 54837844 + Silent SNP T T G rs372886051 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.339T>G p.Ala113= p.A113= ENST00000339924 3/8 NA NA NA NA NA NA ,regulatory_region_variant,,ENSR00000593780,;KIR2DS4,synonymous_variant,p.Ala113=,ENST00000339924,;KIR2DS4,synonymous_variant,p.Ala113=,ENST00000391729,NM_001281971.2,NM_001281972.2; G ENSG00000221957 ENST00000339924 Transcript synonymous_variant 428/1608 339/893 113/297 A gcT/gcG rs372886051 1 NA 1 KIR2DS4 HGNC HGNC:6336 polymorphic_pseudogene YES ENSP00000340011 3/8 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . CTC . 951.6 NA NA NA NA NA NA NA NA NA 54837844 KIR2DS4 3809 . GRCh38 chr19 54839648 54839648 + Silent SNP G G T rs1049290 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.591G>T p.Thr197= p.T197= ENST00000339924 4/8 NA NA NA NA NA NA KIR2DS4,synonymous_variant,p.Thr197=,ENST00000339924,;KIR2DS4,synonymous_variant,p.Thr197=,ENST00000391729,NM_001281971.2,NM_001281972.2; T ENSG00000221957 ENST00000339924 Transcript synonymous_variant 680/1608 591/893 197/297 T acG/acT rs1049290 1 NA 1 KIR2DS4 HGNC HGNC:6336 polymorphic_pseudogene YES ENSP00000340011 4/8 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . CGC . 35.44 2.124e-05 NA NA NA NA NA 4.638e-05 NA NA 54839648 KIR2DS4 3809 . GRCh38 chr19 54839653 54839653 + Missense_Mutation SNP C C A rs1130504 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.596C>A p.Pro199His p.P199H ENST00000339924 4/8 NA NA NA NA NA NA KIR2DS4,missense_variant,p.Pro199His,ENST00000339924,;KIR2DS4,missense_variant,p.Pro199His,ENST00000391729,NM_001281971.2,NM_001281972.2; A ENSG00000221957 ENST00000339924 Transcript missense_variant 685/1608 596/893 199/297 P/H cCt/cAt rs1130504 1 NA 1 KIR2DS4 HGNC HGNC:6336 polymorphic_pseudogene YES ENSP00000340011 deleterious_low_confidence(0) probably_damaging(0.996) 4/8 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CCT . 35.44 1.274e-05 NA NA NA NA NA 2.783e-05 NA NA 54839653 KIR2DS4 3809 . GRCh38 chr19 54839668 54839668 + Missense_Mutation SNP C C G novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.611C>G p.Thr204Ser p.T204S ENST00000339924 4/8 NA NA NA NA NA NA KIR2DS4,missense_variant,p.Thr204Ser,ENST00000339924,;KIR2DS4,missense_variant,p.Thr204Ser,ENST00000391729,NM_001281971.2,NM_001281972.2; G ENSG00000221957 ENST00000339924 Transcript missense_variant 700/1608 611/893 204/297 T/S aCt/aGt 1 NA 1 KIR2DS4 HGNC HGNC:6336 polymorphic_pseudogene YES ENSP00000340011 tolerated_low_confidence(0.07) possibly_damaging(0.801) 4/8 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . ACT . 35.44 NA NA NA NA NA NA NA NA NA 54839668 KIR2DS4 3809 . GRCh38 chr19 54839671 54839671 + Missense_Mutation SNP G G A rs753026829 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.614G>A p.Arg205Gln p.R205Q ENST00000339924 4/8 NA NA NA NA NA NA KIR2DS4,missense_variant,p.Arg205Gln,ENST00000339924,;KIR2DS4,missense_variant,p.Arg205Gln,ENST00000391729,NM_001281971.2,NM_001281972.2; A ENSG00000221957 ENST00000339924 Transcript missense_variant 703/1608 614/893 205/297 R/Q cGa/cAa rs753026829 1 NA 1 KIR2DS4 HGNC HGNC:6336 polymorphic_pseudogene YES ENSP00000340011 tolerated_low_confidence(0.08) possibly_damaging(0.776) 4/8 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CGA . 35.44 2.126e-05 NA 0.000124 NA NA NA 9.295e-06 NA NA 54839671 KIR2DS4 3809 . GRCh38 chr19 54839677 54839677 + Missense_Mutation SNP T T C rs956010324 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.620T>C p.Ile207Thr p.I207T ENST00000339924 4/8 NA NA NA NA NA NA KIR2DS4,missense_variant,p.Ile207Thr,ENST00000339924,;KIR2DS4,missense_variant,p.Ile207Thr,ENST00000391729,NM_001281971.2,NM_001281972.2; C ENSG00000221957 ENST00000339924 Transcript missense_variant 709/1608 620/893 207/297 I/T aTc/aCc rs956010324 1 NA 1 KIR2DS4 HGNC HGNC:6336 polymorphic_pseudogene YES ENSP00000340011 tolerated_low_confidence(0.53) benign(0) 4/8 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . ATC . 35.44 8.509e-06 NA NA NA NA NA 1.86e-05 NA NA 54839677 KIR2DS4 3809 . GRCh38 chr19 54842912 54842912 + Silent SNP A A G rs2262065 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.687A>G p.Pro229= p.P229= ENST00000339924 5/8 NA NA NA NA NA NA ,regulatory_region_variant,,ENSR00000593782,;KIR2DS4,synonymous_variant,p.Pro229=,ENST00000339924,;KIR2DS4,intron_variant,,ENST00000391729,NM_001281971.2,NM_001281972.2; G ENSG00000221957 ENST00000339924 Transcript synonymous_variant 776/1608 687/893 229/297 P ccA/ccG rs2262065 1 NA 1 KIR2DS4 HGNC HGNC:6336 polymorphic_pseudogene YES ENSP00000340011 5/8 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . CAA . 126.6 8.519e-06 NA NA NA NA NA 1.862e-05 NA NA 54842912 KIR3DL2 727787 . GRCh38 chr19 54852249 54852249 + Missense_Mutation SNP G G A rs654686 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.322G>A p.Ala108Thr p.A108T ENST00000326321 3/9 NA NA NA NA NA NA KIR3DL2,missense_variant,p.Ala108Thr,ENST00000326321,NM_006737.4;KIR3DL2,missense_variant,p.Ala108Thr,ENST00000270442,NM_001242867.2;,regulatory_region_variant,,ENSR00001026258,;KIR2DS4,downstream_gene_variant,,ENST00000339924,; A ENSG00000240403 ENST00000326321 Transcript missense_variant 355/1877 322/1368 108/455 A/T Gca/Aca rs654686,COSV54394897 1 NA 1 KIR3DL2 HGNC HGNC:6339 protein_coding YES CCDS12906.1 ENSP00000325525 P43630.188 A0A0U1WNF3.34 UPI000012DB25 NM_006737.4 tolerated(0.08) benign(0.041) 3/9 CDD:cd05711,PANTHER:PTHR11738,PANTHER:PTHR11738:SF166,Gene3D:2.60.40.10,Pfam:PF00047,SMART:SM00409,Superfamily:SSF48726 NA NA NA NA NA NA NA NA NA 0,1 25867094 NA NA NA NA MODERATE 1 SNV 1 NA 0,1 NA NA . GGC . 10531.6 NA NA NA NA NA NA NA NA NA 54852249 KIR3DL2 727787 . GRCh38 chr19 54854027 54854027 + Silent SNP C C T rs140583928 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.636C>T p.Pro212= p.P212= ENST00000326321 4/9 NA NA NA NA NA NA KIR3DL2,synonymous_variant,p.Pro212=,ENST00000326321,NM_006737.4;KIR3DL2,synonymous_variant,p.Pro212=,ENST00000270442,NM_001242867.2; T ENSG00000240403 ENST00000326321 Transcript synonymous_variant 669/1877 636/1368 212/455 P ccC/ccT rs140583928 1 NA 1 KIR3DL2 HGNC HGNC:6339 protein_coding YES CCDS12906.1 ENSP00000325525 P43630.188 A0A0U1WNF3.34 UPI000012DB25 NM_006737.4 4/9 CDD:cd05711,PANTHER:PTHR11738,PANTHER:PTHR11738:SF166,Gene3D:2.60.40.10,Superfamily:SSF48726 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . CCC . 112.6 NA NA NA NA NA NA NA NA NA 54854027 FIZ1 84922 . GRCh38 chr19 55597643 55597643 + Missense_Mutation SNP C C T NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.223G>A p.Gly75Arg p.G75R ENST00000221665 2/3 NA NA NA NA NA NA FIZ1,missense_variant,p.Gly75Arg,ENST00000590714,;FIZ1,missense_variant,p.Gly75Arg,ENST00000221665,NM_032836.3;FIZ1,missense_variant,p.Gly68Arg,ENST00000587678,;FIZ1,intron_variant,,ENST00000592585,;ZNF524,upstream_gene_variant,,ENST00000301073,NM_153219.4;FIZ1,downstream_gene_variant,,ENST00000587414,;ZNF524,upstream_gene_variant,,ENST00000589521,;ZNF524,upstream_gene_variant,,ENST00000591046,;,regulatory_region_variant,,ENSR00000111684,; T ENSG00000179943 ENST00000221665 Transcript missense_variant 303/2645 223/1491 75/496 G/R Ggg/Agg COSV55609220 1 NA -1 FIZ1 HGNC HGNC:25917 protein_coding YES CCDS12928.1 ENSP00000221665 Q96SL8.147 UPI000013C7D7 NM_032836.3 deleterious(0) probably_damaging(0.999) 2/3 Gene3D:3.30.160.60,PROSITE_profiles:PS50157,PANTHER:PTHR24383,PANTHER:PTHR24383:SF13,Superfamily:SSF57667,Superfamily:SSF57667 NA NA NA NA NA NA NA NA NA 1 NA NA NA NA MODERATE 1 SNV 1 NA 1 NA NA . CCG . 5220.6 NA NA NA NA NA NA NA NA NA 55597643 ZNF581 51545 . GRCh38 chr19 55644588 55644588 + Frame_Shift_Del DEL C C - novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.21del p.Cys8AlafsTer105 p.C8Afs*105 ENST00000587252 2/2 NA NA NA NA NA NA ZNF581,frameshift_variant,p.Cys8AlafsTer105,ENST00000587252,;ZNF581,frameshift_variant,p.Cys8AlafsTer105,ENST00000270451,NM_016535.4;ZNF581,frameshift_variant,p.Cys8AlafsTer105,ENST00000588537,;ZNF581,frameshift_variant,p.Cys8AlafsTer105,ENST00000585995,;CCDC106,intron_variant,,ENST00000592996,;CCDC106,upstream_gene_variant,,ENST00000308964,NM_001370467.1,NM_013301.2,NM_001370469.1,NM_001370468.1;ZNF580,downstream_gene_variant,,ENST00000325333,NM_207115.2;ZNF580,downstream_gene_variant,,ENST00000543039,NM_016202.2;ZNF580,downstream_gene_variant,,ENST00000545125,NM_001163423.1;CCDC106,upstream_gene_variant,,ENST00000586790,NM_001370470.1;CCDC106,upstream_gene_variant,,ENST00000587213,;CCDC106,upstream_gene_variant,,ENST00000588740,;ZNF580,downstream_gene_variant,,ENST00000590190,;CCDC106,upstream_gene_variant,,ENST00000591241,NM_001370471.1;CCDC106,upstream_gene_variant,,ENST00000591578,;ZNF580,downstream_gene_variant,,ENST00000592461,;ZNF580,downstream_gene_variant,,ENST00000592881,;CCDC106,upstream_gene_variant,,ENST00000593069,;CCDC106,upstream_gene_variant,,ENST00000586864,;,regulatory_region_variant,,ENSR00000289218,; - ENSG00000171425 ENST00000587252 Transcript frameshift_variant 290/1324 17/594 6/197 S/X tCc/tc 1 NA 1 ZNF581 HGNC HGNC:25017 protein_coding YES CCDS12932.1 ENSP00000466047 Q9P0T4.155 UPI0000070E84 2/2 PANTHER:PTHR24390,PANTHER:PTHR24390:SF76 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH NA deletion 2 4 NA NA . ATCC . 1236.6 NA NA NA NA NA NA NA NA NA 55644587 ZNF581 51545 . GRCh38 chr19 55645095 55645095 + Missense_Mutation SNP G G T novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.524G>T p.Cys175Phe p.C175F ENST00000587252 2/2 NA NA NA NA NA NA ZNF581,missense_variant,p.Cys175Phe,ENST00000587252,;ZNF581,missense_variant,p.Cys175Phe,ENST00000270451,NM_016535.4;ZNF581,missense_variant,p.Cys175Phe,ENST00000588537,;CCDC106,intron_variant,,ENST00000592996,;CCDC106,upstream_gene_variant,,ENST00000308964,NM_001370467.1,NM_013301.2,NM_001370469.1,NM_001370468.1;ZNF580,downstream_gene_variant,,ENST00000325333,NM_207115.2;ZNF580,downstream_gene_variant,,ENST00000543039,NM_016202.2;ZNF580,downstream_gene_variant,,ENST00000545125,NM_001163423.1;ZNF581,downstream_gene_variant,,ENST00000585995,;CCDC106,upstream_gene_variant,,ENST00000586790,NM_001370470.1;CCDC106,upstream_gene_variant,,ENST00000587213,;CCDC106,upstream_gene_variant,,ENST00000588740,;ZNF580,downstream_gene_variant,,ENST00000590190,;CCDC106,upstream_gene_variant,,ENST00000591241,NM_001370471.1;CCDC106,upstream_gene_variant,,ENST00000591578,;ZNF580,downstream_gene_variant,,ENST00000592461,;ZNF580,downstream_gene_variant,,ENST00000592881,;CCDC106,upstream_gene_variant,,ENST00000593069,;CCDC106,upstream_gene_variant,,ENST00000586864,; T ENSG00000171425 ENST00000587252 Transcript missense_variant 797/1324 524/594 175/197 C/F tGt/tTt 1 NA 1 ZNF581 HGNC HGNC:25017 protein_coding YES CCDS12932.1 ENSP00000466047 Q9P0T4.155 UPI0000070E84 deleterious(0) probably_damaging(1) 2/2 Gene3D:3.30.160.60,Pfam:PF13894,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,PANTHER:PTHR24390,PANTHER:PTHR24390:SF76,SMART:SM00355,Superfamily:SSF57667 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE NA SNV 2 NA NA NA . TGT . 4756.6 NA NA NA NA NA NA NA NA NA 55645095 CCDC106 29903 . GRCh38 chr19 55652523 55652523 + Missense_Mutation SNP G G A NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.620G>A p.Arg207His p.R207H ENST00000586790 5/5 NA NA NA NA NA NA CCDC106,missense_variant,p.Arg207His,ENST00000586790,NM_001370470.1;CCDC106,missense_variant,p.Arg207His,ENST00000591578,;CCDC106,missense_variant,p.Arg207His,ENST00000308964,NM_001370467.1,NM_013301.2,NM_001370469.1,NM_001370468.1;CCDC106,missense_variant,p.Arg207His,ENST00000588740,;CCDC106,missense_variant,p.Arg172His,ENST00000591241,NM_001370471.1;U2AF2,upstream_gene_variant,,ENST00000308924,NM_007279.3;U2AF2,upstream_gene_variant,,ENST00000450554,NM_001012478.2;CCDC106,downstream_gene_variant,,ENST00000587213,;CCDC106,downstream_gene_variant,,ENST00000592996,;CCDC106,downstream_gene_variant,,ENST00000593069,;CCDC106,downstream_gene_variant,,ENST00000586864,;U2AF2,upstream_gene_variant,,ENST00000587196,;U2AF2,upstream_gene_variant,,ENST00000588850,;,regulatory_region_variant,,ENSR00000111697,; A ENSG00000173581 ENST00000586790 Transcript missense_variant 1455/2093 620/843 207/280 R/H cGc/cAc COSV58276005 1 NA 1 CCDC106 HGNC HGNC:30181 protein_coding YES CCDS33118.1 ENSP00000465757 Q9BWC9.128 UPI0000072074 NM_001370470.1 deleterious(0.05) possibly_damaging(0.534) 5/5 PANTHER:PTHR16477:SF2,PANTHER:PTHR16477,Pfam:PF15794 NA NA NA NA NA NA NA NA NA 1 NA NA NA NA MODERATE 1 SNV 1 NA 1 NA NA . CGC . 6185.6 NA NA NA NA NA NA NA NA NA 55652523 EPN1 29924 . GRCh38 chr19 55691818 55691818 + Frame_Shift_Del DEL G G - rs755604942 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1091del p.Gly364AlafsTer164 p.G364Afs*164 ENST00000411543 7/11 NA NA NA NA NA NA EPN1,frameshift_variant,p.Gly278AlafsTer164,ENST00000270460,NM_001321263.1,NM_001130072.2;EPN1,frameshift_variant,p.Gly364AlafsTer164,ENST00000411543,NM_001130071.1;EPN1,frameshift_variant,p.Gly253AlafsTer163,ENST00000085079,NM_013333.3;EPN1,upstream_gene_variant,,ENST00000589704,;AC010525.1,downstream_gene_variant,,ENST00000585559,;EPN1,upstream_gene_variant,,ENST00000587937,;EPN1,downstream_gene_variant,,ENST00000591743,;EPN1,upstream_gene_variant,,ENST00000586194,; - ENSG00000063245 ENST00000411543 Transcript frameshift_variant 1632/2621 1085/1989 362/662 W/X tGg/tg rs755604942 1 NA 1 EPN1 HGNC HGNC:21604 protein_coding YES CCDS46198.1 ENSP00000406209 Q9Y6I3.189 UPI000059D7B7 NM_001130071.1 7/11 Low_complexity_(Seg):seg,MobiDB_lite:mobidb-lite,PANTHER:PTHR12276,PANTHER:PTHR12276:SF48 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 6 NA NA . CTGG . 1154.6 8.256e-06 NA NA NA NA 4.683e-05 9.28e-06 NA NA 55691817 ZSCAN5A 79149 . GRCh38 chr19 56224888 56224888 + Silent SNP C C T rs750310913 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.159G>A p.Pro53= p.P53= ENST00000391713 2/5 NA NA NA NA NA NA ZSCAN5A,synonymous_variant,p.Pro53=,ENST00000391713,NM_001322065.2,NM_001322064.2,NM_001322067.1,NM_001322068.1,NM_001322070.1,NM_001322066.1,NM_024303.2;ZSCAN5A,synonymous_variant,p.Pro53=,ENST00000587340,NM_001322072.1;ZSCAN5A,synonymous_variant,p.Pro53=,ENST00000592355,NM_001322073.2,NM_001322074.2,NM_001322061.2,NM_001322076.1,NM_001322075.1,NM_001322062.1;ZSCAN5A,synonymous_variant,p.Pro53=,ENST00000592509,;ZSCAN5A,synonymous_variant,p.Pro53=,ENST00000588955,;ZSCAN5A,intron_variant,,ENST00000587492,NM_001322078.2,NM_001322077.2;ZSCAN5A,intron_variant,,ENST00000593106,;ZSCAN5A,downstream_gene_variant,,ENST00000588442,;ZSCAN5A,downstream_gene_variant,,ENST00000592679,;ZSCAN5A,non_coding_transcript_exon_variant,,ENST00000592101,; T ENSG00000131848 ENST00000391713 Transcript synonymous_variant 325/3562 159/1491 53/496 P ccG/ccA rs750310913,COSV99570092 1 NA -1 ZSCAN5A HGNC HGNC:23710 protein_coding YES CCDS12941.1 ENSP00000375593 Q9BUG6.157 A0A024R4S6.54 UPI0000072024 NM_001322065.2,NM_001322064.2,NM_001322067.1,NM_001322068.1,NM_001322070.1,NM_001322066.1,NM_024303.2 2/5 PROSITE_profiles:PS50804,CDD:cd07936,PANTHER:PTHR23226:SF138,PANTHER:PTHR23226,Gene3D:1.10.4020.10,Pfam:PF02023,SMART:SM00431,Superfamily:SSF47353 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA LOW 1 SNV 1 NA 0,1 NA NA . TCG . 3185.6 0.0001114 NA 0.0002313 NA NA NA 7.914e-05 0.0001629 0.0003267 56224888 ZFP28 140612 . GRCh38 chr19 56553792 56553792 + Missense_Mutation SNP G G T novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1007G>T p.Arg336Ile p.R336I ENST00000301318 8/8 NA NA NA NA NA NA ZFP28,missense_variant,p.Arg336Ile,ENST00000301318,NM_020828.2;ZFP28,downstream_gene_variant,,ENST00000591844,NM_001308440.1;AC005498.3,intron_variant,,ENST00000596587,;AC005498.3,intron_variant,,ENST00000670254,;ZFP28,downstream_gene_variant,,ENST00000588163,;ZFP28,downstream_gene_variant,,ENST00000589836,; T ENSG00000196867 ENST00000301318 Transcript missense_variant 1078/4094 1007/2607 336/868 R/I aGa/aTa 1 NA 1 ZFP28 HGNC HGNC:17801 protein_coding YES CCDS12946.1 ENSP00000301318 Q8NHY6.162 UPI000006D90E NM_020828.2 tolerated(0.17) benign(0.131) 8/8 PANTHER:PTHR23226,PANTHER:PTHR23226:SF264 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . AGA . 2869.6 NA NA NA NA NA NA NA NA NA 56553792 ZNF71 58491 . GRCh38 chr19 56621537 56621537 + Nonsense_Mutation SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.430C>T p.Gln144Ter p.Q144* ENST00000599599 4/4 NA NA NA NA NA NA ZNF71,stop_gained,p.Gln84Ter,ENST00000328070,NM_021216.4,NM_001370214.1;ZNF71,stop_gained,p.Gln144Ter,ENST00000599599,NM_001370215.1;ZIM2-AS1,intron_variant,,ENST00000650950,; T ENSG00000197951 ENST00000599599 Transcript stop_gained 609/3558 430/1650 144/549 Q/* Caa/Taa 1 NA 1 ZNF71 HGNC HGNC:13141 protein_coding YES ENSP00000471138 M0R0C0.53 UPI0000202CFF NM_001370215.1 4/4 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 SNV 2 NA NA NA . CCA . 4781.6 NA NA NA NA NA NA NA NA NA 56621537 PEG3 5178 . GRCh38 chr19 56814962 56814962 + Silent SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3480G>A p.Glu1160= p.E1160= ENST00000326441 10/10 NA NA NA NA NA NA PEG3,synonymous_variant,p.Glu1160=,ENST00000326441,NM_001369717.1,NM_001146184.2,NM_006210.3,NM_001369718.1;PEG3,synonymous_variant,p.Glu1036=,ENST00000649233,NM_001369720.1,NM_001369730.1,NM_001369731.1,NM_001369724.1;PEG3,synonymous_variant,p.Glu1036=,ENST00000649876,NM_001369728.1;PEG3,synonymous_variant,p.Glu1036=,ENST00000648694,NM_001369739.1,NM_001369727.1,NM_001369729.1;PEG3,synonymous_variant,p.Glu1036=,ENST00000649680,NM_001369722.1,NM_001369732.1;PEG3,synonymous_variant,p.Glu1036=,ENST00000649428,NM_001369733.1;PEG3,synonymous_variant,p.Glu1036=,ENST00000650632,NM_001369726.1;PEG3,synonymous_variant,p.Glu1036=,ENST00000650102,NM_001369723.1;PEG3,synonymous_variant,p.Glu1005=,ENST00000647621,NM_001369737.1,NM_001369735.1,NM_001369736.1,NM_001369734.1,NM_001369738.1;PEG3,synonymous_variant,p.Glu1036=,ENST00000598410,NM_001369725.1,NM_001369721.1,NM_001146187.2;PEG3,synonymous_variant,p.Glu1160=,ENST00000599534,;PEG3,synonymous_variant,p.Glu1160=,ENST00000599577,;PEG3,synonymous_variant,p.Glu1034=,ENST00000593695,NM_001146185.2;PEG3,synonymous_variant,p.Glu1036=,ENST00000647852,;PEG3,3_prime_UTR_variant,,ENST00000649735,;ZIM2,intron_variant,,ENST00000593711,NM_015363.5,NM_001369774.1,NM_001369772.1,NM_001369773.1;ZIM2,intron_variant,,ENST00000599935,NM_001369771.1,NM_001369770.1;ZIM2,intron_variant,,ENST00000601070,;ZIM2,intron_variant,,ENST00000629319,NM_001146327.1,NM_001146326.2;PEG3,downstream_gene_variant,,ENST00000600833,NM_001369719.1;AC006115.2,intron_variant,,ENST00000650854,;AC006115.2,intron_variant,,ENST00000652504,;AC006115.2,downstream_gene_variant,,ENST00000651589,;PEG3,upstream_gene_variant,,ENST00000599565,;ZIM2,intron_variant,,ENST00000595671,;ZIM2,intron_variant,,ENST00000597281,;ZIM2,intron_variant,,ENST00000650111,; T ENSG00000198300 ENST00000326441 Transcript synonymous_variant 3874/8754 3480/4767 1160/1588 E gaG/gaA 1 NA -1 PEG3 HGNC HGNC:8826 protein_coding YES CCDS12948.1 ENSP00000326581 Q9GZU2.161 UPI000006D36D NM_001369717.1,NM_001146184.2,NM_006210.3,NM_001369718.1 10/10 Gene3D:3.30.160.60,PANTHER:PTHR23226,PANTHER:PTHR23226:SF177,Superfamily:SSF57667 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . GCT . 4508.6 NA NA NA NA NA NA NA NA NA 56814962 ZNF547 284306 . GRCh38 chr19 57371905 57371905 + Silent SNP C C T rs146559900 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.148C>T p.Leu50= p.L50= ENST00000282282 3/4 NA NA NA NA NA NA ZNF547,synonymous_variant,p.Leu50=,ENST00000282282,NM_173631.4;ZNF547,synonymous_variant,p.Leu51=,ENST00000597567,;AC003002.1,synonymous_variant,p.Leu50=,ENST00000597658,;ZNF547,downstream_gene_variant,,ENST00000599604,;ZNF547,3_prime_UTR_variant,,ENST00000595335,; T ENSG00000152433 ENST00000282282 Transcript synonymous_variant 313/2754 148/1209 50/402 L Cta/Tta rs146559900 1 NA 1 ZNF547 HGNC HGNC:26432 protein_coding YES CCDS33131.1 ENSP00000282282 Q8IVP9.144 UPI00001609AA NM_173631.4 3/4 Pfam:PF01352,PROSITE_profiles:PS50805,PANTHER:PTHR24377,PANTHER:PTHR24377:SF808,SMART:SM00349,Superfamily:SSF109640,CDD:cd07765 2e-04 NA NA NA 0.001 NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . ACT . 7838.6 4.097e-06 NA NA NA NA NA 9.038e-06 NA NA 57371905 ZNF551 90233 . GRCh38 chr19 57685333 57685333 + Missense_Mutation SNP G G T rs758991851 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.153G>T p.Arg51Ser p.R51S ENST00000282296 2/3 NA NA NA NA NA NA ZNF551,missense_variant,p.Arg51Ser,ENST00000282296,NM_138347.5;ZNF551,missense_variant,p.Arg23Ser,ENST00000601064,NM_001270938.2;ZNF551,missense_variant,p.Arg35Ser,ENST00000596085,;AC003006.1,intron_variant,,ENST00000594684,;AC003006.1,intron_variant,,ENST00000599221,;ZNF551,intron_variant,,ENST00000599402,;,regulatory_region_variant,,ENSR00000111819,; T ENSG00000204519 ENST00000282296 Transcript missense_variant 340/4560 153/2013 51/670 R/S agG/agT rs758991851,COSV56593425 1 NA 1 ZNF551 HGNC HGNC:25108 protein_coding YES CCDS12959.2 ENSP00000282296 Q7Z340.155 UPI000059D7C6 NM_138347.5 deleterious(0) probably_damaging(0.992) 2/3 Pfam:PF01352,PROSITE_profiles:PS50805,SMART:SM00349,Superfamily:SSF109640,CDD:cd07765 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 1 NA 0,1 NA NA . GGT . 3484.6 7.954e-06 NA NA NA NA NA 8.791e-06 NA 3.267e-05 57685333 ZNF552 79818 . GRCh38 chr19 57808641 57808641 + Frame_Shift_Del DEL C C - NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.623del p.Gly208GlufsTer11 p.G208Efs*11 ENST00000391701 3/3 NA NA NA NA NA NA ZNF552,frameshift_variant,p.Gly208GlufsTer11,ENST00000391701,NM_024762.3;ZNF552,intron_variant,,ENST00000594473,;ZNF586,intron_variant,,ENST00000598885,;ZNF586,intron_variant,,ENST00000599802,;ZNF552,3_prime_UTR_variant,,ENST00000596248,;ZNF552,downstream_gene_variant,,ENST00000600397,; - ENSG00000178935 ENST00000391701 Transcript frameshift_variant 793/2352 623/1224 208/407 G/X gGa/ga COSV66971465,COSV66971814 1 NA -1 ZNF552 HGNC HGNC:26135 protein_coding YES CCDS12963.1 ENSP00000375582 Q9H707.141 UPI0000202D72 NM_024762.3 3/3 Gene3D:3.30.160.60,PANTHER:PTHR24377,PANTHER:PTHR24377:SF702,Superfamily:SSF57667 NA NA NA NA NA NA NA NA NA 1,1 NA NA NA NA HIGH 1 deletion 2 NA 1,1 NA NA . TTCC . 6124.6 NA NA NA NA NA NA NA NA NA 57808640 AL121899.2 0 . GRCh38 chr20 2207517 2207517 + Splice_Region SNP C C A rs2295571 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.-51C>A ENST00000651531 1/14 NA NA NA NA NA NA AL121899.2,splice_region_variant,,ENST00000651531,;AL121899.1,splice_region_variant,,ENST00000411839,;AL121899.1,intron_variant,,ENST00000447956,;AL121899.4,upstream_gene_variant,,ENST00000658070,;,regulatory_region_variant,,ENSR00000133645,;,regulatory_region_variant,,ENSR00000643393,;,TF_binding_site_variant,,ENSM00057512419,;,TF_binding_site_variant,,ENSM00051627868,; A ENSG00000286022 ENST00000651531 Transcript splice_region_variant,5_prime_UTR_variant 190/2857 rs2295571 1 NA 1 AL121899.2 Clone_based_ensembl_gene protein_coding YES ENSP00000498584 A0A494C0J7.7 UPI001084C006 1/14 NA 0.7678 0.8516 NA 0.7649 0.9185 0.8262 NA NA NA NA NA NA LOW NA SNV NA NA NA NA . GCA . 3382.03 NA NA NA NA NA NA NA NA NA 2207517 RNF24 11237 . GRCh38 chr20 3945196 3945196 + Missense_Mutation SNP T T C novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.272A>G p.Lys91Arg p.K91R ENST00000432261 4/6 NA NA NA NA NA NA RNF24,missense_variant,p.Lys70Arg,ENST00000336095,NM_007219.5;RNF24,missense_variant,p.Lys70Arg,ENST00000358395,NM_001134337.3,NM_001321749.2;RNF24,missense_variant,p.Lys91Arg,ENST00000432261,;RNF24,missense_variant,p.Lys91Arg,ENST00000545616,NM_001134338.3; C ENSG00000101236 ENST00000432261 Transcript missense_variant 272/3149 272/510 91/169 K/R aAa/aGa 1 NA -1 RNF24 HGNC HGNC:13779 protein_coding YES CCDS46577.1 ENSP00000388550 Q9Y225.149 UPI0000206960 tolerated(0.11) benign(0.026) 4/6 PANTHER:PTHR22763:SF21,PANTHER:PTHR22763,Gene3D:3.30.40.10,Superfamily:SSF57850 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . TTT . 67.6 NA NA NA NA NA NA NA NA NA 3945196 SMOX 54498 . GRCh38 chr20 4181953 4181953 + Missense_Mutation SNP G G A rs372589961 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.586G>A p.Ala196Thr p.A196T ENST00000621355 4/8 NA NA NA NA NA NA SMOX,missense_variant,p.Ala196Thr,ENST00000621355,NM_001270691.1;SMOX,missense_variant,p.Ala196Thr,ENST00000379460,;SMOX,missense_variant,p.Ala196Thr,ENST00000278795,NM_175842.3;SMOX,missense_variant,p.Ala196Thr,ENST00000305958,NM_175839.3;SMOX,missense_variant,p.Ala196Thr,ENST00000339123,NM_175840.3;SMOX,missense_variant,p.Ala53Thr,ENST00000457205,;SMOX,intron_variant,,ENST00000346595,NM_175841.3;SMOX,non_coding_transcript_exon_variant,,ENST00000484515,;SMOX,non_coding_transcript_exon_variant,,ENST00000494098,;SMOX,upstream_gene_variant,,ENST00000466004,;SMOX,upstream_gene_variant,,ENST00000486998,; A ENSG00000088826 ENST00000621355 Transcript missense_variant 811/2322 586/1758 196/585 A/T Gcc/Acc rs372589961 1 NA 1 SMOX HGNC HGNC:15862 protein_coding YES CCDS74702.1 ENSP00000478305 Q9NWM0.158 UPI0000EE6E63 NM_001270691.1 deleterious(0) benign(0.324) 4/8 Gene3D:3.50.50.60,Pfam:PF01593,PANTHER:PTHR10742,PANTHER:PTHR10742:SF384,Superfamily:SSF51905 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CGC . 6225.6 3.979e-06 NA NA NA 5.437e-05 NA NA NA NA 4181953 ADRA1D 146 . GRCh38 chr20 4248312 4248312 + Missense_Mutation SNP T T C novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.646A>G p.Ile216Val p.I216V ENST00000379453 1/2 NA NA NA NA NA NA ADRA1D,missense_variant,p.Ile216Val,ENST00000379453,NM_000678.4;,regulatory_region_variant,,ENSR00000133896,; C ENSG00000171873 ENST00000379453 Transcript missense_variant 976/2942 646/1719 216/572 I/V Atc/Gtc 1 NA -1 ADRA1D HGNC HGNC:280 protein_coding YES CCDS13079.1 ENSP00000368766 P25100.171 B0ZBE0.104 UPI000003B078 NM_000678.4 tolerated(0.18) possibly_damaging(0.45) 1/2 Gene3D:1.20.1070.10,Pfam:PF00001,Prints:PR00237,PROSITE_profiles:PS50262,PANTHER:PTHR24248,PANTHER:PTHR24248:SF14,SMART:SM01381,Superfamily:SSF81321,Transmembrane_helices:TMhelix,CDD:cd15327,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . ATG . 3443.6 NA NA NA NA NA NA NA NA NA 4248312 ADRA1D 146 . GRCh38 chr20 4248946 4248946 + Silent SNP G G A rs1204184745 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.12C>T p.Arg4= p.R4= ENST00000379453 1/2 NA NA NA NA NA NA ADRA1D,synonymous_variant,p.Arg4=,ENST00000379453,NM_000678.4;,regulatory_region_variant,,ENSR00000133896,; A ENSG00000171873 ENST00000379453 Transcript synonymous_variant 342/2942 12/1719 4/572 R cgC/cgT rs1204184745,COSV65241815 1 NA -1 ADRA1D HGNC HGNC:280 protein_coding YES CCDS13079.1 ENSP00000368766 P25100.171 B0ZBE0.104 UPI000003B078 NM_000678.4 1/2 Prints:PR00240,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA LOW 1 SNV 1 NA 0,1 NA NA . CGC . 1124.6 NA NA NA NA NA NA NA NA NA 4248946 RASSF2 9770 . GRCh38 chr20 4787713 4787713 + Nonsense_Mutation SNP G G A rs757887568 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.733C>T p.Arg245Ter p.R245* ENST00000379400 10/12 NA NA NA NA NA NA RASSF2,stop_gained,p.Arg245Ter,ENST00000379400,NM_014737.3;RASSF2,stop_gained,p.Arg245Ter,ENST00000379376,NM_170774.1;RASSF2,intron_variant,,ENST00000478553,; A ENSG00000101265 ENST00000379400 Transcript stop_gained 892/5390 733/981 245/326 R/* Cga/Tga rs757887568,COSV65081765 1 NA -1 RASSF2 HGNC HGNC:9883 protein_coding YES CCDS13083.1 ENSP00000368710 P50749.161 UPI0000001C0A NM_014737.3 10/12 Gene3D:3.10.20.90,Pfam:PF00788,PROSITE_profiles:PS50200,PANTHER:PTHR22738,PANTHER:PTHR22738:SF14,SMART:SM00314,Superfamily:SSF54236,CDD:cd17221 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA HIGH 1 SNV 1 NA 0,1 NA NA . CGG . 4576.6 3.977e-06 NA NA NA NA NA 8.791e-06 NA NA 4787713 BTBD3 22903 . GRCh38 chr20 11922875 11922875 + Missense_Mutation SNP G G A rs1432723544 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.778G>A p.Gly260Arg p.G260R ENST00000405977 5/5 NA NA NA NA NA NA BTBD3,missense_variant,p.Gly260Arg,ENST00000405977,NM_181443.3;BTBD3,missense_variant,p.Gly260Arg,ENST00000378226,NM_014962.4;BTBD3,missense_variant,p.Gly199Arg,ENST00000399006,;BTBD3,missense_variant,p.Gly199Arg,ENST00000254977,NM_001282552.2;BTBD3,missense_variant,p.Gly199Arg,ENST00000618296,NM_001282551.1,NM_001282554.1;BTBD3,missense_variant,p.Gly199Arg,ENST00000618918,NM_001282550.1;BTBD3,downstream_gene_variant,,ENST00000422390,;BTBD3,downstream_gene_variant,,ENST00000430557,;BTBD3,downstream_gene_variant,,ENST00000450368,;BTBD3,downstream_gene_variant,,ENST00000455911,;AL035448.1,upstream_gene_variant,,ENST00000439529,;BTBD3,non_coding_transcript_exon_variant,,ENST00000488503,;BTBD3,non_coding_transcript_exon_variant,,ENST00000471120,;BTBD3,non_coding_transcript_exon_variant,,ENST00000473180,;BTBD3,non_coding_transcript_exon_variant,,ENST00000473416,;BTBD3,3_prime_UTR_variant,,ENST00000449299,; A ENSG00000132640 ENST00000405977 Transcript missense_variant 1403/5137 778/1569 260/522 G/R Gga/Aga rs1432723544 1 NA 1 BTBD3 HGNC HGNC:15854 protein_coding YES CCDS13113.1 ENSP00000384545 Q9Y2F9.153 UPI0000126B03 NM_181443.3 deleterious(0) possibly_damaging(0.758) 5/5 CDD:cd18524,PANTHER:PTHR45774,PANTHER:PTHR45774:SF2,Gene3D:1.25.40.420,Pfam:PF07707,SMART:SM00875 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE NA SNV 5 NA NA NA . GGG . 3818.6 3.979e-06 NA NA NA 5.437e-05 NA NA NA NA 11922875 MACROD2 140733 . GRCh38 chr20 14493504 14493504 + Silent SNP A A G rs921566274 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.297A>G p.Gly99= p.G99= ENST00000642719 4/18 NA NA NA NA NA NA MACROD2,synonymous_variant,p.Gly99=,ENST00000217246,NM_001351661.2,NM_001351663.2,NM_080676.6;MACROD2,synonymous_variant,p.Gly99=,ENST00000642719,;MACROD2,non_coding_transcript_exon_variant,,ENST00000477147,;MACROD2,non_coding_transcript_exon_variant,,ENST00000463861,;MACROD2,non_coding_transcript_exon_variant,,ENST00000494602,;MACROD2,non_coding_transcript_exon_variant,,ENST00000490428,; G ENSG00000172264 ENST00000642719 Transcript synonymous_variant 402/1632 297/1362 99/453 G ggA/ggG rs921566274,COSV53990431 1 NA 1 MACROD2 HGNC HGNC:16126 protein_coding YES ENSP00000496601 A0A2R8YFN3.11 UPI000D191721 4/18 Gene3D:3.40.220.10,Pfam:PF01661,PROSITE_profiles:PS51154,PANTHER:PTHR11106,PANTHER:PTHR11106:SF104,SMART:SM00506,Superfamily:SSF52949,CDD:cd02908,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA LOW 1 SNV NA NA 0,1 NA NA . GAG . 236.6 NA NA NA NA NA NA NA NA NA 14493504 RRBP1 6238 . GRCh38 chr20 17659260 17659260 + Silent SNP C C T rs565270958 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1248G>A p.Gln416= p.Q416= ENST00000377813 3/25 NA NA NA NA NA NA RRBP1,synonymous_variant,p.Gln416=,ENST00000377813,NM_001365613.2;RRBP1,synonymous_variant,p.Gln416=,ENST00000246043,;RRBP1,intron_variant,,ENST00000360807,NM_004587.3;RRBP1,intron_variant,,ENST00000377807,NM_001042576.2;RRBP1,intron_variant,,ENST00000455029,;RRBP1,intron_variant,,ENST00000610403,;RRBP1,downstream_gene_variant,,ENST00000398782,;RRBP1,upstream_gene_variant,,ENST00000495501,; T ENSG00000125844 ENST00000377813 Transcript synonymous_variant 1561/5049 1248/4233 416/1410 Q caG/caA rs565270958 1 NA -1 RRBP1 HGNC HGNC:10448 protein_coding YES ENSP00000367044 Q9P2E9.177 UPI0004620C9C NM_001365613.2 3/25 MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite 2e-04 8e-04 NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . TCT . 271.6 6.7e-06 NA NA NA NA NA NA NA 4.465e-05 17659260 RRBP1 6238 . GRCh38 chr20 17660322 17660324 + In_Frame_Del DEL CTT CTT - rs777987396 NA HCI-EC-23 NORMAL CTT CTT NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.184_186del p.Lys62del p.K62del ENST00000377813 3/25 NA NA NA NA NA NA RRBP1,inframe_deletion,p.Lys62del,ENST00000377813,NM_001365613.2;RRBP1,inframe_deletion,p.Lys62del,ENST00000246043,;RRBP1,inframe_deletion,p.Lys62del,ENST00000377807,NM_001042576.2;RRBP1,inframe_deletion,p.Lys62del,ENST00000360807,NM_004587.3;RRBP1,inframe_deletion,p.Lys62del,ENST00000398782,;RRBP1,intron_variant,,ENST00000455029,;RRBP1,upstream_gene_variant,,ENST00000610403,;RRBP1,upstream_gene_variant,,ENST00000495501,; - ENSG00000125844 ENST00000377813 Transcript inframe_deletion 497-499/5049 184-186/4233 62/1410 K/- AAG/- rs777987396 1 NA -1 RRBP1 HGNC HGNC:10448 protein_coding YES ENSP00000367044 Q9P2E9.177 UPI0004620C9C NM_001365613.2 3/25 Pfam:PF05104,PANTHER:PTHR18939,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA 0.001173 0.0008481 NA NA NA NA MODERATE 1 deletion 1 NA NA NA . TCCTTC . 2474.6 3.252e-05 6.32e-05 NA NA 5.564e-05 NA 5.428e-05 NA NA 17660321 SEC23B 10483 . GRCh38 chr20 18560660 18560660 + Missense_Mutation SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2224G>A p.Ala742Thr p.A742T ENST00000336714 20/20 NA NA NA NA NA NA SEC23B,missense_variant,p.Ala742Thr,ENST00000336714,NM_032986.4;SEC23B,missense_variant,p.Ala742Thr,ENST00000377465,NM_001172745.3;SEC23B,missense_variant,p.Ala742Thr,ENST00000262544,;SEC23B,missense_variant,p.Ala742Thr,ENST00000650089,NM_032985.6,NM_006363.6;SEC23B,missense_variant,p.Ala724Thr,ENST00000643747,NM_001172746.3;SEC23B,missense_variant,p.Ala221Thr,ENST00000422877,; A ENSG00000101310 ENST00000336714 Transcript missense_variant 2709/3464 2224/2304 742/767 A/T Gca/Aca 1 NA 1 SEC23B HGNC HGNC:10702 protein_coding YES CCDS13137.1 ENSP00000338844 Q15437.183 UPI0000135455 NM_032986.4 tolerated(0.25) benign(0.015) 20/20 PANTHER:PTHR11141:SF10,PANTHER:PTHR11141,Gene3D:3.40.20.10,Superfamily:SSF82754 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . AGC . 1692.6 NA NA NA NA NA NA NA NA NA 18560660 RIN2 54453 . GRCh38 chr20 19974941 19974942 + Frame_Shift_Ins INS - - GC rs1568686983 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1063_1064insGC p.Ser355CysfsTer42 p.S355Cfs*42 ENST00000255006 8/12 NA NA NA NA NA NA RIN2,frameshift_variant,p.Ser355CysfsTer42,ENST00000255006,NM_001242581.1;RIN2,frameshift_variant,p.Ser306CysfsTer42,ENST00000648440,NM_018993.4,NM_001378238.1;RIN2,intron_variant,,ENST00000440354,;RIN2,non_coding_transcript_exon_variant,,ENST00000484638,;RIN2,downstream_gene_variant,,ENST00000467569,; GC ENSG00000132669 ENST00000255006 Transcript frameshift_variant 1212-1213/4507 1063-1064/2835 355/944 S/CX tcc/tGCcc rs1568686983 1 NA 1 RIN2 HGNC HGNC:18750 protein_coding YES CCDS56182.1 ENSP00000255006 Q8WYP3.152 UPI00004709D0 NM_001242581.1 8/12 MobiDB_lite:mobidb-lite,PANTHER:PTHR23101:SF51,PANTHER:PTHR23101 NA NA NA NA NA NA NA NA NA uncertain_significance NA NA NA NA HIGH 1 insertion 2 NA 1 NA 1 . GTC . 98.64 NA NA NA NA NA NA NA NA NA 19974941 RIN2 54453 . GRCh38 chr20 19974953 19974954 + Frame_Shift_Del DEL AG AG - rs1568687231 NA HCI-EC-23 NORMAL AG AG NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1075_1076del p.Arg359AlafsTer7 p.R359Afs*7 ENST00000255006 8/12 NA NA NA NA NA NA RIN2,frameshift_variant,p.Arg359AlafsTer7,ENST00000255006,NM_001242581.1;RIN2,frameshift_variant,p.Arg310AlafsTer7,ENST00000648440,NM_018993.4,NM_001378238.1;RIN2,intron_variant,,ENST00000440354,;RIN2,non_coding_transcript_exon_variant,,ENST00000484638,;RIN2,downstream_gene_variant,,ENST00000467569,; - ENSG00000132669 ENST00000255006 Transcript frameshift_variant 1224-1225/4507 1075-1076/2835 359/944 R/X AGg/g rs1568687231 1 NA 1 RIN2 HGNC HGNC:18750 protein_coding YES CCDS56182.1 ENSP00000255006 Q8WYP3.152 UPI00004709D0 NM_001242581.1 8/12 Low_complexity_(Seg):seg,MobiDB_lite:mobidb-lite,PANTHER:PTHR23101:SF51,PANTHER:PTHR23101 NA NA NA NA NA NA NA NA NA uncertain_significance NA NA NA NA HIGH 1 deletion 2 NA 1 NA 1 . CCAGG . 101.6 NA NA NA NA NA NA NA NA NA 19974952 XRN2 22803 . GRCh38 chr20 21326493 21326493 + Silent SNP A A G rs1269578292 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.207A>G p.Pro69= p.P69= ENST00000377191 3/30 NA NA NA NA NA NA XRN2,synonymous_variant,p.Pro69=,ENST00000377191,NM_012255.5,NM_001317960.1;,regulatory_region_variant,,ENSR00000135492,; G ENSG00000088930 ENST00000377191 Transcript synonymous_variant 275/3408 207/2853 69/950 P ccA/ccG rs1269578292 1 NA 1 XRN2 HGNC HGNC:12836 protein_coding YES CCDS13144.1 ENSP00000366396 Q9H0D6.178 UPI0000037D02 NM_012255.5,NM_001317960.1 3/30 Gene3D:3.40.50.12390,Pfam:PF03159,PIRSF:PIRSF037239,PANTHER:PTHR12341,PANTHER:PTHR12341:SF41,CDD:cd18673 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . CAG . 386.6 NA NA NA NA NA NA NA NA NA 21326493 PAX1 5075 . GRCh38 chr20 21706874 21706874 + Silent SNP G G A rs1434161578 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.723G>A p.Pro241= p.P241= ENST00000398485 2/5 NA NA NA NA NA NA PAX1,synonymous_variant,p.Pro241=,ENST00000613128,NM_001257096.1;PAX1,synonymous_variant,p.Pro241=,ENST00000398485,NM_006192.5;PAX1,synonymous_variant,p.Pro217=,ENST00000444366,;LINC01726,upstream_gene_variant,,ENST00000624692,;PAX1,splice_region_variant,,ENST00000460221,;PAX1,upstream_gene_variant,,ENST00000485038,;,regulatory_region_variant,,ENSR00001049517,; A ENSG00000125813 ENST00000398485 Transcript synonymous_variant 777/2838 723/1605 241/534 P ccG/ccA rs1434161578,COSV68271351 1 NA 1 PAX1 HGNC HGNC:8615 protein_coding YES CCDS13146.2 ENSP00000381499 P15863.181 UPI000179A786 NM_006192.5 2/5 Gene3D:1.10.10.10,PANTHER:PTHR45636,PANTHER:PTHR45636:SF15 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA LOW NA SNV 5 NA 0,1 NA 1 . CGT . 5657.6 7.989e-06 NA NA NA NA NA 1.77e-05 NA NA 21706874 PAX1 5075 . GRCh38 chr20 21709368 21709369 + Frame_Shift_Ins INS - - C novel NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1212dup p.Gly405ArgfsTer51 p.G405Rfs*51 ENST00000398485 4/5 NA NA NA NA NA NA PAX1,frameshift_variant,p.Gly405ArgfsTer26,ENST00000613128,NM_001257096.1;PAX1,frameshift_variant,p.Gly405ArgfsTer51,ENST00000398485,NM_006192.5;PAX1,frameshift_variant,p.Gly381ArgfsTer26,ENST00000444366,;PAX1,non_coding_transcript_exon_variant,,ENST00000460221,;PAX1,downstream_gene_variant,,ENST00000485038,;,regulatory_region_variant,,ENSR00001049519,; C ENSG00000125813 ENST00000398485 Transcript frameshift_variant 1260-1261/2838 1206-1207/1605 402-403/534 -/X -/C 1 NA 1 PAX1 HGNC HGNC:8615 protein_coding YES CCDS13146.2 ENSP00000381499 P15863.181 UPI000179A786 NM_006192.5 4/5 PANTHER:PTHR45636,PANTHER:PTHR45636:SF15,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 insertion 5 6 NA 1 . CGC . 1471.64 NA NA NA NA NA NA NA NA NA 21709368 HCK 3055 . GRCh38 chr20 32052426 32052427 + Frame_Shift_Ins INS - - G rs755024531 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.9dup p.Arg4_?3 p.R4_?3 ENST00000375852 1/13 NA NA NA NA NA NA HCK,frameshift_variant,p.Arg4_?3,ENST00000375852,NM_002110.4;HCK,frameshift_variant,p.Arg4_?3,ENST00000375862,NM_001172130.2;HCK,5_prime_UTR_variant,,ENST00000520553,NM_001172132.2,NM_001172129.2;HCK,5_prime_UTR_variant,,ENST00000629881,NM_001172133.2;HCK,5_prime_UTR_variant,,ENST00000518730,NM_001172131.2;HCK,frameshift_variant,p.Arg4_?3,ENST00000262651,;HCK,frameshift_variant,p.Arg4_?3,ENST00000486475,;HCK,non_coding_transcript_exon_variant,,ENST00000470092,;,regulatory_region_variant,,ENSR00000136087,;RNA5SP482,downstream_gene_variant,,ENST00000391269,; G ENSG00000101336 ENST00000375852 Transcript frameshift_variant,start_lost 185-186/2088 2-3/1581 1/526 M/LX ctg/ctGg rs755024531 1 NA 1 HCK HGNC HGNC:4840 protein_coding YES CCDS33460.1 ENSP00000365012 J3KPD6.70 UPI000013D2F5 NM_002110.4 1/13 MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 insertion 1 7 NA NA . CTG . 3831.64 9.437e-05 NA NA NA NA NA 0.0002353 NA NA 32052426 NOL4L 140688 . GRCh38 chr20 32456254 32456254 + Missense_Mutation SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.983C>T p.Ala328Val p.A328V ENST00000621426 6/11 NA NA NA NA NA NA NOL4L,missense_variant,p.Ala328Val,ENST00000621426,NM_001256798.2;NOL4L,missense_variant,p.Ala84Val,ENST00000359676,NM_080616.6,NM_001351680.2;NOL4L,missense_variant,p.Ala84Val,ENST00000616976,;AL034550.1,downstream_gene_variant,,ENST00000442179,;NOL4L,missense_variant,p.Ala84Val,ENST00000475781,; A ENSG00000197183 ENST00000621426 Transcript missense_variant 983/6577 983/2043 328/680 A/V gCc/gTc 1 NA -1 NOL4L HGNC HGNC:16106 protein_coding YES CCDS74718.1 ENSP00000483523 A0A087X0N3.43 UPI000250792A NM_001256798.2 deleterious(0.05) benign(0.108) 6/11 PANTHER:PTHR12449:SF19,PANTHER:PTHR12449 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE NA SNV 5 NA NA NA . GGC . 12901.6 NA NA NA NA NA NA NA NA NA 32456254 PXMP4 11264 . GRCh38 chr20 33720178 33720179 + Frame_Shift_Ins INS - - A rs770682673 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.29dup p.Leu11AlafsTer21 p.L11Afs*21 ENST00000409299 1/4 NA NA NA NA NA NA PXMP4,frameshift_variant,p.Leu11AlafsTer21,ENST00000409299,NM_007238.5;PXMP4,frameshift_variant,p.Leu11AlafsTer21,ENST00000344022,NM_183397.3;PXMP4,frameshift_variant,p.Leu11AlafsTer21,ENST00000217398,;,regulatory_region_variant,,ENSR00000136297,; A ENSG00000101417 ENST00000409299 Transcript frameshift_variant 132-133/5690 29-30/639 10/212 L/LX ctg/ctTg rs770682673 1 NA -1 PXMP4 HGNC HGNC:15920 protein_coding YES CCDS13225.1 ENSP00000386385 Q9Y6I8.147 UPI000013C727 NM_007238.5 1/4 PIRSF:PIRSF013674,PANTHER:PTHR15460,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA 0.0002424 NA NA NA NA HIGH 1 insertion 1 NA NA NA . GCA . 9721.64 2.832e-05 NA NA NA NA NA 6.304e-05 NA NA 33720178 FAM83C 128876 . GRCh38 chr20 35292247 35292247 + Missense_Mutation SNP G G A rs751481657 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.58C>T p.Arg20Trp p.R20W ENST00000374408 1/4 NA NA NA NA NA NA FAM83C,missense_variant,p.Arg20Trp,ENST00000374408,NM_178468.6;,regulatory_region_variant,,ENSR00001050503,; A ENSG00000125998 ENST00000374408 Transcript missense_variant 179/3169 58/2244 20/747 R/W Cgg/Tgg rs751481657,COSV65582873 1 NA -1 FAM83C HGNC HGNC:16121 protein_coding YES CCDS13251.1 ENSP00000363529 Q9BQN1.123 UPI0000072DC0 NM_178468.6 deleterious(0) probably_damaging(0.967) 1/4 PANTHER:PTHR16181:SF3,PANTHER:PTHR16181 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 1 NA 0,1 NA NA . CGC . 1064.6 1.272e-05 0.0001235 NA NA NA NA 1.543e-05 NA NA 35292247 SRC 6714 . GRCh38 chr20 37403175 37403175 + Missense_Mutation SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1425G>A p.Met475Ile p.M475I ENST00000373558 12/12 NA NA NA NA NA NA SRC,missense_variant,p.Met469Ile,ENST00000373578,NM_005417.4,NM_198291.3;SRC,missense_variant,p.Met469Ile,ENST00000373567,;SRC,missense_variant,p.Met475Ile,ENST00000373558,;SRC,missense_variant,p.Met469Ile,ENST00000358208,;SRC,non_coding_transcript_exon_variant,,ENST00000477066,;SRC,downstream_gene_variant,,ENST00000477475,;SRC,downstream_gene_variant,,ENST00000493775,;SRC,downstream_gene_variant,,ENST00000467556,; A ENSG00000197122 ENST00000373558 Transcript missense_variant 1429/4304 1425/1629 475/542 M/I atG/atA 1 NA 1 SRC HGNC HGNC:11283 protein_coding YES ENSP00000362659 P12931.248 UPI0000000D75 deleterious(0.01) possibly_damaging(0.567) 12/12 CDD:cd05071,Gene3D:1.10.510.10,Pfam:PF07714,SMART:SM00219,Superfamily:SSF56112,PROSITE_profiles:PS50011,PANTHER:PTHR24418,PANTHER:PTHR24418:SF53 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA 1 . TGG . 1128.6 NA NA NA NA NA NA NA NA NA 37403175 RALGAPB 57148 . GRCh38 chr20 38525512 38525512 + Missense_Mutation SNP A A T novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1896A>T p.Lys632Asn p.K632N ENST00000262879 12/30 NA NA NA NA NA NA RALGAPB,missense_variant,p.Lys632Asn,ENST00000397042,NM_001282918.2;RALGAPB,missense_variant,p.Lys632Asn,ENST00000262879,NM_020336.4,NM_001282917.2;RALGAPB,missense_variant,p.Lys632Asn,ENST00000397040,;RALGAPB,missense_variant,p.Lys460Asn,ENST00000438490,;RALGAPB,upstream_gene_variant,,ENST00000632792,;RALGAPB,non_coding_transcript_exon_variant,,ENST00000461423,; T ENSG00000170471 ENST00000262879 Transcript missense_variant 2153/8633 1896/4485 632/1494 K/N aaA/aaT 1 NA 1 RALGAPB HGNC HGNC:29221 protein_coding YES CCDS13305.1 ENSP00000262879 Q86X10.139 UPI000000DBFD NM_020336.4,NM_001282917.2 tolerated(0.07) benign(0.286) 12/30 PANTHER:PTHR21344 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . AAT . 1433.6 NA NA NA NA NA NA NA NA NA 38525512 ADIG 149685 . GRCh38 chr20 38581325 38581326 + Frame_Shift_Ins INS - - T novel NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.75_76insT p.Gly26TrpfsTer15 p.G26Wfs*15 ENST00000416116 1/3 NA NA NA NA NA NA ADIG,frameshift_variant,p.Gly26TrpfsTer15,ENST00000537425,NM_001018082.3;ADIG,frameshift_variant,p.Gly26TrpfsTer15,ENST00000416116,;ADIG,frameshift_variant,p.Gly26TrpfsTer15,ENST00000373348,;RALGAPB,downstream_gene_variant,,ENST00000262879,NM_020336.4,NM_001282917.2;RALGAPB,downstream_gene_variant,,ENST00000397040,;RALGAPB,downstream_gene_variant,,ENST00000397042,NM_001282918.2;RALGAPB,downstream_gene_variant,,ENST00000632792,;ADIG,frameshift_variant,p.Gly26TrpfsTer15,ENST00000470147,;RALGAPB,downstream_gene_variant,,ENST00000461147,;,regulatory_region_variant,,ENSR00001050890,; T ENSG00000182035 ENST00000416116 Transcript frameshift_variant 131-132/658 75-76/594 25-26/197 -/X -/T 1 NA 1 ADIG HGNC HGNC:28606 protein_coding YES ENSP00000416834 H0Y829.38 UPI001090116A 1/3 Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PANTHER:PTHR38499,Pfam:PF15202 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH NA insertion 3 NA NA NA . TGG . 2257.64 NA NA NA NA NA NA NA NA NA 38581325 CHD6 84181 . GRCh38 chr20 41512878 41512878 + Missense_Mutation SNP G G A rs547341937 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.820C>T p.Leu274Phe p.L274F ENST00000373233 5/37 NA NA NA NA NA NA CHD6,missense_variant,p.Leu274Phe,ENST00000373233,NM_032221.5;CHD6,missense_variant,p.Leu309Phe,ENST00000373222,;CHD6,non_coding_transcript_exon_variant,,ENST00000470470,;CHD6,downstream_gene_variant,,ENST00000482596,;,regulatory_region_variant,,ENSR00001051197,; A ENSG00000124177 ENST00000373233 Transcript missense_variant 881/10719 820/8148 274/2715 L/F Ctc/Ttc rs547341937 1 NA -1 CHD6 HGNC HGNC:19057 protein_coding YES CCDS13317.1 ENSP00000362330 Q8TD26.178 UPI0000168656 NM_032221.5 tolerated(0.14) possibly_damaging(0.776) 5/37 Gene3D:2.40.50.40,PANTHER:PTHR45623,PANTHER:PTHR45623:SF8 2e-04 NA NA NA NA NA 0.001 NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . AGT . 980.6 1.991e-05 NA NA NA NA NA NA NA 0.0001633 41512878 PTPRT 11122 . GRCh38 chr20 42448292 42448292 + Frame_Shift_Del DEL C C - novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1488del p.Phe498LeufsTer103 p.F498Lfs*103 ENST00000373193 9/32 NA NA NA NA NA NA PTPRT,frameshift_variant,p.Phe498LeufsTer103,ENST00000373198,NM_133170.4;PTPRT,frameshift_variant,p.Phe498LeufsTer103,ENST00000373193,;PTPRT,frameshift_variant,p.Phe498LeufsTer103,ENST00000373201,;PTPRT,frameshift_variant,p.Phe498LeufsTer103,ENST00000373190,;PTPRT,frameshift_variant,p.Phe498LeufsTer103,ENST00000373184,;PTPRT,frameshift_variant,p.Phe498LeufsTer103,ENST00000356100,;PTPRT,frameshift_variant,p.Phe498LeufsTer103,ENST00000373187,NM_007050.6;PTPRT,frameshift_variant,p.Phe116LeufsTer103,ENST00000612229,;PTPRT,frameshift_variant,p.Phe114LeufsTer103,ENST00000618610,;PTPRT,3_prime_UTR_variant,,ENST00000617474,; - ENSG00000196090 ENST00000373193 Transcript frameshift_variant 1672/12681 1488/4392 496/1463 G/X ggG/gg 1 NA -1 PTPRT HGNC HGNC:9682 protein_coding YES ENSP00000362289 O14522.179 UPI000020653F 9/32 Gene3D:2.60.40.10,PROSITE_profiles:PS50853,PANTHER:PTHR19134,PANTHER:PTHR19134:SF208,SMART:SM00060,Superfamily:SSF49265 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 NA NA 1 . GGCC . 2288.6 NA NA NA NA NA NA NA NA NA 42448291 PTPRT 11122 . GRCh38 chr20 42472267 42472267 + Splice_Region SNP G G A rs747953256 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1449C>T p.Asp483= p.D483= ENST00000373193 8/32 NA NA NA NA NA NA PTPRT,splice_region_variant,p.Asp483=,ENST00000373198,NM_133170.4;PTPRT,splice_region_variant,p.Asp483=,ENST00000373193,;PTPRT,splice_region_variant,p.Asp483=,ENST00000373201,;PTPRT,splice_region_variant,p.Asp483=,ENST00000373190,;PTPRT,splice_region_variant,p.Asp483=,ENST00000373184,;PTPRT,splice_region_variant,p.Asp483=,ENST00000356100,;PTPRT,splice_region_variant,p.Asp483=,ENST00000373187,NM_007050.6;PTPRT,splice_region_variant,p.Asp101=,ENST00000612229,;PTPRT,splice_region_variant,p.Asp99=,ENST00000618610,;PTPRT,splice_region_variant,,ENST00000617474,; A ENSG00000196090 ENST00000373193 Transcript splice_region_variant,synonymous_variant 1633/12681 1449/4392 483/1463 D gaC/gaT rs747953256,COSV61975215 1 NA -1 PTPRT HGNC HGNC:9682 protein_coding YES ENSP00000362289 O14522.179 UPI000020653F 8/32 PROSITE_profiles:PS50853,PANTHER:PTHR19134,PANTHER:PTHR19134:SF208,Superfamily:SSF49265 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA LOW 1 SNV 1 NA 0,1 NA 1 . CGT . 1573.6 7.659e-05 NA 0.000116 NA NA 9.318e-05 2.674e-05 NA 0.0003278 42472267 MYBL2 4605 . GRCh38 chr20 43711539 43711539 + Missense_Mutation SNP G G A NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1657G>A p.Ala553Thr p.A553T ENST00000217026 11/14 NA NA NA NA NA NA MYBL2,missense_variant,p.Ala529Thr,ENST00000396863,NM_001278610.1;MYBL2,missense_variant,p.Ala553Thr,ENST00000217026,NM_002466.4; A ENSG00000101057 ENST00000217026 Transcript missense_variant 1827/2668 1657/2103 553/700 A/T Gct/Act COSV53827885 1 NA 1 MYBL2 HGNC HGNC:7548 protein_coding YES CCDS13322.1 ENSP00000217026 P10244.211 UPI000012FAE1 NM_002466.4 tolerated(0.58) benign(0.047) 11/14 Pfam:PF09316 NA NA NA NA NA NA NA NA NA 1 NA NA NA NA MODERATE 1 SNV 1 NA 1 NA NA . GGC . 3471.6 NA NA NA NA NA NA NA NA NA 43711539 RBPJL 11317 . GRCh38 chr20 45313585 45313585 + Missense_Mutation SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.737C>T p.Ala246Val p.A246V ENST00000343694 7/12 NA NA NA NA NA NA RBPJL,missense_variant,p.Ala246Val,ENST00000343694,NM_014276.4;RBPJL,missense_variant,p.Ala246Val,ENST00000372741,NM_001281448.2;RBPJL,missense_variant,p.Ala246Val,ENST00000372743,NM_001281449.2;RBPJL,upstream_gene_variant,,ENST00000464504,;RBPJL,upstream_gene_variant,,ENST00000622729,; T ENSG00000124232 ENST00000343694 Transcript missense_variant 820/2502 737/1554 246/517 A/V gCt/gTt 1 NA 1 RBPJL HGNC HGNC:13761 protein_coding YES CCDS13349.1 ENSP00000341243 Q9UBG7.159 UPI0000047297 NM_014276.4 deleterious(0) possibly_damaging(0.802) 7/12 PANTHER:PTHR10665:SF2,PANTHER:PTHR10665,Gene3D:2.80.10.50,Gene3D:2.60.40.1450,Pfam:PF09270,SMART:SM01268,Superfamily:SSF110217 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . GCT . 1586.6 NA NA NA NA NA NA NA NA NA 45313585 CTSA 5476 . GRCh38 chr20 45895029 45895029 + Frame_Shift_Del DEL C C - rs758642867 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1044del p.Cys349AlafsTer36 p.C349Afs*36 ENST00000372484 11/15 NA NA NA NA NA NA CTSA,frameshift_variant,p.Cys349AlafsTer36,ENST00000372484,;CTSA,frameshift_variant,p.Cys349AlafsTer36,ENST00000677394,;CTSA,frameshift_variant,p.Cys331AlafsTer36,ENST00000372459,;CTSA,frameshift_variant,p.Cys331AlafsTer36,ENST00000191018,NM_001127695.2;CTSA,frameshift_variant,p.Cys331AlafsTer36,ENST00000607482,;CTSA,frameshift_variant,p.Cys331AlafsTer36,ENST00000646241,NM_000308.4;CTSA,frameshift_variant,p.Cys332AlafsTer36,ENST00000354880,NM_001167594.2;CTSA,frameshift_variant,p.Pro327LeufsTer41,ENST00000419493,;CTSA,frameshift_variant,p.Cys331AlafsTer36,ENST00000678443,;PLTP,downstream_gene_variant,,ENST00000354050,NM_182676.2;PLTP,downstream_gene_variant,,ENST00000372420,NM_001242921.1;PLTP,downstream_gene_variant,,ENST00000372431,NM_006227.4;NEURL2,upstream_gene_variant,,ENST00000372518,NM_080749.3;PLTP,downstream_gene_variant,,ENST00000420868,NM_001242920.1;PLTP,downstream_gene_variant,,ENST00000477313,;NEURL2,upstream_gene_variant,,ENST00000545238,NM_001278535.1;AL008726.1,upstream_gene_variant,,ENST00000607703,;CTSA,frameshift_variant,p.Cys331AlafsTer67,ENST00000678939,;CTSA,frameshift_variant,p.Cys331AlafsTer105,ENST00000678331,;CTSA,frameshift_variant,p.Cys331AlafsTer97,ENST00000676597,;CTSA,3_prime_UTR_variant,,ENST00000606788,;CTSA,3_prime_UTR_variant,,ENST00000678025,;CTSA,3_prime_UTR_variant,,ENST00000678217,;CTSA,3_prime_UTR_variant,,ENST00000678078,;CTSA,3_prime_UTR_variant,,ENST00000676967,;CTSA,3_prime_UTR_variant,,ENST00000677525,;CTSA,3_prime_UTR_variant,,ENST00000676657,;CTSA,3_prime_UTR_variant,,ENST00000676526,;CTSA,3_prime_UTR_variant,,ENST00000606394,;CTSA,non_coding_transcript_exon_variant,,ENST00000678512,;CTSA,non_coding_transcript_exon_variant,,ENST00000679343,;CTSA,non_coding_transcript_exon_variant,,ENST00000484855,;CTSA,non_coding_transcript_exon_variant,,ENST00000679053,;CTSA,non_coding_transcript_exon_variant,,ENST00000607187,;CTSA,non_coding_transcript_exon_variant,,ENST00000678691,;CTSA,non_coding_transcript_exon_variant,,ENST00000678988,;CTSA,non_coding_transcript_exon_variant,,ENST00000480961,;CTSA,non_coding_transcript_exon_variant,,ENST00000678622,;CTSA,non_coding_transcript_exon_variant,,ENST00000677755,;CTSA,non_coding_transcript_exon_variant,,ENST00000607212,;CTSA,non_coding_transcript_exon_variant,,ENST00000493522,;CTSA,non_coding_transcript_exon_variant,,ENST00000606066,;CTSA,downstream_gene_variant,,ENST00000485627,;CTSA,upstream_gene_variant,,ENST00000606000,;CTSA,downstream_gene_variant,,ENST00000606782,;CTSA,downstream_gene_variant,,ENST00000607814,;CTSA,downstream_gene_variant,,ENST00000607841,; - ENSG00000064601 ENST00000372484 Transcript frameshift_variant 2110/2939 1038/1497 346/498 D/X gaC/ga rs758642867 1 NA 1 CTSA HGNC HGNC:9251 protein_coding YES CCDS13385.2 ENSP00000361562 X6R8A1.45 UPI000022B4F7 11/15 PANTHER:PTHR11802,PANTHER:PTHR11802:SF242,Pfam:PF00450,Gene3D:3.40.50.12670,Superfamily:SSF53474 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 6 NA 1 . GACC . 4857.6 3.99e-06 NA NA NA NA NA 8.832e-06 NA NA 45895028 NCOA5 57727 . GRCh38 chr20 46068578 46068578 + Missense_Mutation SNP G G C novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.426C>G p.Asp142Glu p.D142E ENST00000290231 4/8 NA NA NA NA NA NA NCOA5,missense_variant,p.Asp142Glu,ENST00000290231,NM_001348148.2,NM_001348151.2,NM_001348150.2,NM_020967.3,NM_001348149.2;NCOA5,missense_variant,p.Asp37Glu,ENST00000372291,; C ENSG00000124160 ENST00000290231 Transcript missense_variant 601/3224 426/1740 142/579 D/E gaC/gaG 1 NA -1 NCOA5 HGNC HGNC:15909 protein_coding YES CCDS13392.1 ENSP00000290231 Q9HCD5.156 UPI000000D7B2 NM_001348148.2,NM_001348151.2,NM_001348150.2,NM_020967.3,NM_001348149.2 tolerated(0.61) benign(0.003) 4/8 PANTHER:PTHR23295,PANTHER:PTHR23295:SF3 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . AGT . 976.6 NA NA NA NA NA NA NA NA NA 46068578 NCOA3 8202 . GRCh38 chr20 47651093 47651095 + In_Frame_Del DEL CAG CAG - rs3830809 NA HCI-EC-23 NORMAL CAG CAG NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3789_3791del p.Gln1276del p.Q1276del ENST00000371998 20/23 NA NA NA NA NA NA NCOA3,inframe_deletion,p.Gln1276del,ENST00000371998,NM_181659.3,NM_001174087.2;NCOA3,inframe_deletion,p.Gln1272del,ENST00000372004,NM_006534.4;NCOA3,inframe_deletion,p.Gln1267del,ENST00000371997,NM_001174088.2; - ENSG00000124151 ENST00000371998 Transcript inframe_deletion 3994-3996/7961 3763-3765/4275 1255/1424 Q/- CAG/- rs3830809 1 NA 1 NCOA3 HGNC HGNC:7670 protein_coding YES CCDS13407.1 ENSP00000361066 Q9Y6Q9.214 UPI000012FE45 NM_181659.3,NM_001174087.2 20/23 Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,PANTHER:PTHR10684,PANTHER:PTHR10684:SF3,PIRSF:PIRSF038181 NA NA NA NA NA NA NA 0.2703 0.3983 NA NA NA NA MODERATE 1 deletion 1 26 NA NA . AACAGC . 2765.07 NA NA NA NA NA NA NA NA NA 47651092 SULF2 55959 . GRCh38 chr20 47665934 47665934 + Missense_Mutation SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1825G>A p.Asp609Asn p.D609N ENST00000359930 13/21 NA NA NA NA NA NA SULF2,missense_variant,p.Asp609Asn,ENST00000359930,NM_018837.3;SULF2,missense_variant,p.Asp609Asn,ENST00000484875,NM_001161841.1;SULF2,missense_variant,p.Asp609Asn,ENST00000467815,NM_198596.2;SULF2,upstream_gene_variant,,ENST00000495544,;SULF2,upstream_gene_variant,,ENST00000433632,;,regulatory_region_variant,,ENSR00000652931,; T ENSG00000196562 ENST00000359930 Transcript missense_variant 2677/4915 1825/2613 609/870 D/N Gac/Aac 1 NA -1 SULF2 HGNC HGNC:20392 protein_coding YES CCDS13408.1 ENSP00000353007 Q8IWU5.156 UPI000003FFBA NM_018837.3 tolerated(0.08) possibly_damaging(0.476) 13/21 PANTHER:PTHR43108,PANTHER:PTHR43108:SF4,PIRSF:PIRSF036665,Pfam:PF12548 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . TCG . 5583.6 NA NA NA NA NA NA NA NA NA 47665934 ADNP 23394 . GRCh38 chr20 50891667 50891667 + Frame_Shift_Del DEL T T - rs761350619 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3263del p.Lys1088ArgfsTer11 p.K1088Rfs*11 ENST00000673732 6/6 NA NA NA NA NA NA ADNP,frameshift_variant,p.Lys1016ArgfsTer11,ENST00000371602,;ADNP,frameshift_variant,p.Lys1016ArgfsTer11,ENST00000621696,NM_001347511.2,NM_001282531.3;ADNP,frameshift_variant,p.Lys1088ArgfsTer11,ENST00000673732,;ADNP,frameshift_variant,p.Lys1016ArgfsTer11,ENST00000396029,NM_015339.5;ADNP,frameshift_variant,p.Lys1016ArgfsTer11,ENST00000396032,NM_181442.4;ADNP,frameshift_variant,p.Lys788ArgfsTer11,ENST00000645081,;ADNP,frameshift_variant,p.Lys1016ArgfsTer11,ENST00000349014,NM_001282532.1;ADNP,intron_variant,,ENST00000644386,;ADNP,downstream_gene_variant,,ENST00000642364,; - ENSG00000101126 ENST00000673732 Transcript frameshift_variant 3882/6631 3263/3525 1088/1174 K/X aAg/ag rs761350619 1 NA -1 ADNP HGNC HGNC:15766 protein_coding YES ENSP00000501294 UPI00133C06C0 6/6 PANTHER:PTHR15740,PANTHER:PTHR15740:SF1,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion NA NA NA 1 . CCTT . 3360.6 1.207e-05 NA NA NA NA 4.713e-05 1.777e-05 NA NA 50891666 C20orf85 128602 . GRCh38 chr20 58160671 58160671 + Frame_Shift_Del DEL C C - rs777635732 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.269del p.Pro90GlnfsTer19 p.P90Qfs*19 ENST00000371168 4/4 NA NA NA NA NA NA C20orf85,frameshift_variant,p.Pro90GlnfsTer19,ENST00000371168,NM_178456.3;,regulatory_region_variant,,ENSR00000139339,; - ENSG00000124237 ENST00000371168 Transcript frameshift_variant 326/805 263/414 88/137 S/X tCc/tc rs777635732,COSV100959338,COSV64519981 1 NA 1 C20orf85 HGNC HGNC:16216 protein_coding YES CCDS13465.1 ENSP00000360210 Q9H1P6.109 UPI00001285EF NM_178456.3 4/4 Pfam:PF14945,PANTHER:PTHR31909,PANTHER:PTHR31909:SF3 NA NA NA NA NA NA NA NA NA 0,1,1 NA NA NA NA HIGH 1 deletion 1 6 0,1,1 NA NA . ATCC . 1721.6 2.858e-05 NA 0.0001492 NA NA 4.783e-05 NA NA 3.362e-05 58160670 ANKRD60 140731 . GRCh38 chr20 58228446 58228446 + Missense_Mutation SNP G G T rs1419845569 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.208C>A p.Arg70Ser p.R70S ENST00000457363 1/4 NA NA NA NA NA NA ANKRD60,missense_variant,p.Arg70Ser,ENST00000457363,NM_001304369.1;PPP4R1L,downstream_gene_variant,,ENST00000457990,;PPP4R1L,downstream_gene_variant,,ENST00000497138,;PPP4R1L,downstream_gene_variant,,ENST00000650934,;PPP4R1L,downstream_gene_variant,,ENST00000467784,;,regulatory_region_variant,,ENSR00000656056,;PPP4R1L,downstream_gene_variant,,ENST00000334187,; T ENSG00000124227 ENST00000457363 Transcript missense_variant 208/1038 208/1038 70/345 R/S Cgc/Agc rs1419845569 1 NA -1 ANKRD60 HGNC HGNC:16217 protein_coding YES CCDS77596.1 ENSP00000396747 Q9BZ19.137 UPI00015B3C70 NM_001304369.1 tolerated(0.07) possibly_damaging(0.834) 1/4 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . CGG . 2607.6 7.248e-06 NA NA NA NA NA 1.883e-05 NA NA 58228446 HRH3 11255 . GRCh38 chr20 62216466 62216466 + Frame_Shift_Del DEL C C - novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.878del p.Gly293ValfsTer45 p.G293Vfs*45 ENST00000340177 3/3 NA NA NA NA NA NA HRH3,frameshift_variant,p.Gly293ValfsTer45,ENST00000340177,NM_007232.3;HRH3,intron_variant,,ENST00000317393,;HRH3,intron_variant,,ENST00000611492,; - ENSG00000101180 ENST00000340177 Transcript frameshift_variant 1186/2692 878/1338 293/445 G/X gGt/gt 1 NA -1 HRH3 HGNC HGNC:5184 protein_coding YES CCDS13493.1 ENSP00000342560 Q9Y5N1.174 UPI000012C6ED NM_007232.3 3/3 Pfam:PF00001,PROSITE_profiles:PS50262,PANTHER:PTHR24247,PANTHER:PTHR24247:SF194,Superfamily:SSF81321,CDD:cd15296,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 NA NA NA . CACC . 2884.6 NA NA NA NA NA NA NA NA NA 62216465 LAMA5 3911 . GRCh38 chr20 62325327 62325327 + Frame_Shift_Del DEL C C - novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.5518del p.Asp1840ThrfsTer61 p.D1840Tfs*61 ENST00000252999 41/80 NA NA NA NA NA NA LAMA5,frameshift_variant,p.Asp1840ThrfsTer61,ENST00000252999,NM_005560.6;LAMA5,non_coding_transcript_exon_variant,,ENST00000497363,;LAMA5,upstream_gene_variant,,ENST00000464134,; - ENSG00000130702 ENST00000252999 Transcript frameshift_variant 5585/11426 5518/11088 1840/3695 D/X Gac/ac 1 NA -1 LAMA5 HGNC HGNC:6485 protein_coding YES CCDS33502.1 ENSP00000252999 O15230.206 UPI0000161FDC NM_005560.6 41/80 Gene3D:2.170.300.10,Pfam:PF00053,PANTHER:PTHR10574,PANTHER:PTHR10574:SF285 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 NA NA 1 . GTCC . 2335.6 NA NA NA NA NA NA NA NA NA 62325326 RTEL1 51750 . GRCh38 chr20 63695628 63695628 + Missense_Mutation SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3800C>T p.Ala1267Val p.A1267V ENST00000360203 34/35 NA NA NA NA NA NA RTEL1,missense_variant,p.Ala1267Val,ENST00000360203,NM_001283009.2;RTEL1,intron_variant,,ENST00000318100,NM_001283010.1;RTEL1,intron_variant,,ENST00000370018,NM_016434.4;RTEL1,intron_variant,,ENST00000508582,NM_032957.5;TNFRSF6B,upstream_gene_variant,,ENST00000369996,NM_003823.4;RTEL1,downstream_gene_variant,,ENST00000425905,;ARFRP1,downstream_gene_variant,,ENST00000607873,NM_001267546.3;ARFRP1,downstream_gene_variant,,ENST00000612157,NM_001134758.4,NM_001267544.3,NM_001267549.3;ARFRP1,downstream_gene_variant,,ENST00000612256,;ARFRP1,downstream_gene_variant,,ENST00000614942,NM_001267545.2;ARFRP1,downstream_gene_variant,,ENST00000618838,;ARFRP1,downstream_gene_variant,,ENST00000619493,NM_001267548.2;ARFRP1,downstream_gene_variant,,ENST00000622789,NM_003224.6,NM_001267547.3;ARFRP1,downstream_gene_variant,,ENST00000609188,;ARFRP1,downstream_gene_variant,,ENST00000610414,;ARFRP1,downstream_gene_variant,,ENST00000612772,;RTEL1,3_prime_UTR_variant,,ENST00000496816,;RTEL1-TNFRSF6B,non_coding_transcript_exon_variant,,ENST00000496281,;RTEL1,non_coding_transcript_exon_variant,,ENST00000370003,;RTEL1-TNFRSF6B,intron_variant,,ENST00000480273,;RTEL1-TNFRSF6B,intron_variant,,ENST00000492259,;RTEL1,downstream_gene_variant,,ENST00000482936,;ARFRP1,downstream_gene_variant,,ENST00000610774,;ARFRP1,downstream_gene_variant,,ENST00000618568,;,regulatory_region_variant,,ENSR00000657794,; T ENSG00000258366 ENST00000360203 Transcript missense_variant 4125/4615 3800/3903 1267/1300 A/V gCc/gTc 1 NA 1 RTEL1 HGNC HGNC:15888 protein_coding YES CCDS63331.1 ENSP00000353332 Q9NZ71.168 UPI00002063E3 NM_001283009.2 deleterious_low_confidence(0.03) possibly_damaging(0.578) 34/35 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE NA SNV 5 NA NA 1 . GCC . 3008.6 NA NA NA NA NA NA NA NA NA 63695628 FP565260.2 0 . GRCh38 chr21 5121797 5121797 + Silent SNP C C T rs1361379970 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.468G>A p.Thr156= p.T156= ENST00000623476 5/7 NA NA NA NA NA NA FP565260.2,synonymous_variant,p.Thr156=,ENST00000623476,;GATD3B,synonymous_variant,p.Thr145=,ENST00000620528,NM_001363758.2;GATD3B,synonymous_variant,p.Thr59=,ENST00000620015,NM_001363761.2;GATD3B,synonymous_variant,p.Thr118=,ENST00000624648,;GATD3B,synonymous_variant,p.Thr91=,ENST00000624810,;GATD3B,intron_variant,,ENST00000624120,NM_001363760.2;GATD3B,intron_variant,,ENST00000625036,;GATD3B,non_coding_transcript_exon_variant,,ENST00000624748,;GATD3B,downstream_gene_variant,,ENST00000622915,;GATD3B,downstream_gene_variant,,ENST00000623390,;GATD3B,3_prime_UTR_variant,,ENST00000623810,;GATD3B,non_coding_transcript_exon_variant,,ENST00000624714,;,regulatory_region_variant,,ENSR00001054203,; T ENSG00000276612 ENST00000623476 Transcript synonymous_variant 467/1599 468/840 156/279 T acG/acA rs1361379970 1 NA -1 FP565260.2 Clone_based_ensembl_gene protein_coding YES ENSP00000485630 A0A096LPI6.33 UPI00064546F4 5/7 Gene3D:3.40.50.880,PANTHER:PTHR10224,PANTHER:PTHR10224:SF9,Superfamily:SSF52317,CDD:cd03133 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW NA SNV 3 NA NA NA . ACG . 608.6 NA NA NA NA NA NA NA NA NA 5121797 KCNE1B 0 . GRCh38 chr21 7819370 7819370 + Missense_Mutation SNP T T C rs1432651612 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.262A>G p.Asn88Asp p.N88D ENST00000618699 3/3 NA NA NA NA NA NA KCNE1B,missense_variant,p.Asn88Asp,ENST00000618699,NM_001369869.1,NM_001330065.1;KCNE1B,missense_variant,p.Asn85Asp,ENST00000622690,;KCNE1B,missense_variant,p.Asn88Asp,ENST00000623803,;KCNE1B,missense_variant,p.Asn88Asp,ENST00000617668,; C ENSG00000276289 ENST00000618699 Transcript missense_variant 462/3154 262/399 88/132 N/D Aat/Gat rs1432651612 1 NA -1 KCNE1B HGNC HGNC:52280 protein_coding YES CCDS82655.1 ENSP00000477875 A0A087WTH5.41 UPI0003EAFC6E NM_001369869.1,NM_001330065.1 tolerated(1) benign(0) 3/3 Pfam:PF02060,PANTHER:PTHR15282,PANTHER:PTHR15282:SF10 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . TTG . 667.03 NA NA NA NA NA NA NA NA NA 7819370 SYNJ1 8867 . GRCh38 chr21 32650344 32650344 + Splice_Region SNP T T C rs1417962676 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2994A>G p.Leu998= p.L998= ENST00000433931 23/32 NA NA NA NA NA NA SYNJ1,splice_region_variant,p.Leu998=,ENST00000382499,;SYNJ1,splice_region_variant,p.Leu959=,ENST00000674204,;SYNJ1,splice_region_variant,p.Leu998=,ENST00000433931,NM_003895.3;SYNJ1,splice_region_variant,p.Leu959=,ENST00000674351,NM_203446.3;SYNJ1,splice_region_variant,p.Leu959=,ENST00000357345,NM_001160302.1;SYNJ1,splice_region_variant,p.Leu959=,ENST00000674308,;SYNJ1,splice_region_variant,p.Leu954=,ENST00000382491,;SYNJ1,splice_region_variant,p.Leu954=,ENST00000630077,NM_001160306.2;SYNJ1,upstream_gene_variant,,ENST00000438952,;SYNJ1,splice_region_variant,,ENST00000467445,; C ENSG00000159082 ENST00000433931 Transcript splice_region_variant,synonymous_variant 2994/7075 2994/4839 998/1612 L ttA/ttG rs1417962676 1 NA -1 SYNJ1 HGNC HGNC:11503 protein_coding YES CCDS33539.2 ENSP00000409667 J3KQV8.65 UPI0001A47572 NM_003895.3 23/32 Gene3D:3.30.70.330,Pfam:PF08952,PROSITE_profiles:PS50102,PANTHER:PTHR11200,PANTHER:PTHR11200:SF158,SMART:SM01165,Superfamily:SSF54928,CDD:cd12719 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . ATA . 1622.6 4.241e-06 NA NA NA NA NA 9.182e-06 NA NA 32650344 SYNJ1 8867 . GRCh38 chr21 32666480 32666480 + Silent SNP G G A rs748419903 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2022C>T p.Gly674= p.G674= ENST00000433931 16/32 NA NA NA NA NA NA SYNJ1,synonymous_variant,p.Gly674=,ENST00000382499,;SYNJ1,synonymous_variant,p.Gly635=,ENST00000674204,;SYNJ1,synonymous_variant,p.Gly674=,ENST00000433931,NM_003895.3;SYNJ1,synonymous_variant,p.Gly635=,ENST00000674351,NM_203446.3;SYNJ1,synonymous_variant,p.Gly635=,ENST00000357345,NM_001160302.1;SYNJ1,synonymous_variant,p.Gly635=,ENST00000674308,;SYNJ1,synonymous_variant,p.Gly630=,ENST00000382491,;SYNJ1,synonymous_variant,p.Gly630=,ENST00000630077,NM_001160306.2;SYNJ1,synonymous_variant,p.Gly630=,ENST00000429236,; A ENSG00000159082 ENST00000433931 Transcript synonymous_variant 2022/7075 2022/4839 674/1612 G ggC/ggT rs748419903,COSV59149374 1 NA -1 SYNJ1 HGNC HGNC:11503 protein_coding YES CCDS33539.2 ENSP00000409667 J3KQV8.65 UPI0001A47572 NM_003895.3 16/32 Gene3D:3.60.10.10,Pfam:PF03372,PANTHER:PTHR11200,PANTHER:PTHR11200:SF158,SMART:SM00128,Superfamily:SSF56219,CDD:cd09098 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA LOW 1 SNV 1 NA 0,1 NA 1 . CGC . 527.6 NA NA NA NA NA NA NA NA NA 32666480 SYNJ1 8867 . GRCh38 chr21 32695083 32695083 + Missense_Mutation SNP C C T rs1471855193 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.796G>A p.Val266Ile p.V266I ENST00000433931 5/32 NA NA NA NA NA NA SYNJ1,missense_variant,p.Val266Ile,ENST00000382499,;SYNJ1,missense_variant,p.Val227Ile,ENST00000674204,;SYNJ1,missense_variant,p.Val266Ile,ENST00000433931,NM_003895.3;SYNJ1,missense_variant,p.Val227Ile,ENST00000674351,NM_203446.3;SYNJ1,missense_variant,p.Val227Ile,ENST00000357345,NM_001160302.1;SYNJ1,missense_variant,p.Val227Ile,ENST00000674308,;SYNJ1,missense_variant,p.Val227Ile,ENST00000382491,;SYNJ1,missense_variant,p.Val227Ile,ENST00000630077,NM_001160306.2;SYNJ1,missense_variant,p.Val227Ile,ENST00000429236,;SYNJ1,downstream_gene_variant,,ENST00000456084,; T ENSG00000159082 ENST00000433931 Transcript missense_variant 796/7075 796/4839 266/1612 V/I Gtt/Att rs1471855193 1 NA -1 SYNJ1 HGNC HGNC:11503 protein_coding YES CCDS33539.2 ENSP00000409667 J3KQV8.65 UPI0001A47572 NM_003895.3 deleterious(0.04) probably_damaging(0.997) 5/32 Pfam:PF02383,PROSITE_profiles:PS50275,PANTHER:PTHR11200,PANTHER:PTHR11200:SF158 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . ACA . 324.6 3.977e-06 NA NA NA NA NA 8.793e-06 NA NA 32695083 PAXBP1 94104 . GRCh38 chr21 32769825 32769825 + Nonsense_Mutation SNP G G C NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.461C>G p.Ser154Ter p.S154* ENST00000331923 2/18 NA NA NA NA NA NA PAXBP1,stop_gained,p.Ser154Ter,ENST00000331923,NM_016631.4;PAXBP1,stop_gained,p.Ser154Ter,ENST00000290178,NM_013329.4;C21orf62-AS1,upstream_gene_variant,,ENST00000382375,;C21orf62-AS1,upstream_gene_variant,,ENST00000382377,;C21orf62-AS1,upstream_gene_variant,,ENST00000382378,;C21orf62-AS1,upstream_gene_variant,,ENST00000454365,;C21orf62-AS1,upstream_gene_variant,,ENST00000477513,;C21orf62-AS1,upstream_gene_variant,,ENST00000491756,;C21orf62-AS1,upstream_gene_variant,,ENST00000612326,;C21orf62-AS1,upstream_gene_variant,,ENST00000650763,;C21orf62-AS1,upstream_gene_variant,,ENST00000655231,;C21orf62-AS1,upstream_gene_variant,,ENST00000661254,;C21orf62-AS1,upstream_gene_variant,,ENST00000666106,;C21orf62-AS1,upstream_gene_variant,,ENST00000669746,;PAXBP1,non_coding_transcript_exon_variant,,ENST00000472588,;PAXBP1,stop_gained,p.Ser154Ter,ENST00000443785,;PAXBP1,non_coding_transcript_exon_variant,,ENST00000464256,;,regulatory_region_variant,,ENSR00000141464,; C ENSG00000159086 ENST00000331923 Transcript stop_gained 548/3892 461/2754 154/917 S/* tCa/tGa COSV51610523 1 NA -1 PAXBP1 HGNC HGNC:13579 protein_coding YES CCDS13619.1 ENSP00000328992 Q9Y5B6.167 UPI000012B294 NM_016631.4 2/18 PANTHER:PTHR12214,PANTHER:PTHR12214:SF2,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA 1 NA NA NA NA HIGH 1 SNV 1 NA 1 NA NA . TGA . 31.6 NA NA NA NA NA NA NA NA NA 32769825 PAXBP1 94104 . GRCh38 chr21 32769827 32769827 + Missense_Mutation SNP G G T novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.459C>A p.Asn153Lys p.N153K ENST00000331923 2/18 NA NA NA NA NA NA PAXBP1,missense_variant,p.Asn153Lys,ENST00000331923,NM_016631.4;PAXBP1,missense_variant,p.Asn153Lys,ENST00000290178,NM_013329.4;C21orf62-AS1,upstream_gene_variant,,ENST00000382375,;C21orf62-AS1,upstream_gene_variant,,ENST00000382377,;C21orf62-AS1,upstream_gene_variant,,ENST00000382378,;C21orf62-AS1,upstream_gene_variant,,ENST00000454365,;C21orf62-AS1,upstream_gene_variant,,ENST00000477513,;C21orf62-AS1,upstream_gene_variant,,ENST00000491756,;C21orf62-AS1,upstream_gene_variant,,ENST00000612326,;C21orf62-AS1,upstream_gene_variant,,ENST00000650763,;C21orf62-AS1,upstream_gene_variant,,ENST00000655231,;C21orf62-AS1,upstream_gene_variant,,ENST00000661254,;C21orf62-AS1,upstream_gene_variant,,ENST00000666106,;C21orf62-AS1,upstream_gene_variant,,ENST00000669746,;PAXBP1,non_coding_transcript_exon_variant,,ENST00000472588,;PAXBP1,missense_variant,p.Asn153Lys,ENST00000443785,;PAXBP1,non_coding_transcript_exon_variant,,ENST00000464256,;,regulatory_region_variant,,ENSR00000141464,; T ENSG00000159086 ENST00000331923 Transcript missense_variant 546/3892 459/2754 153/917 N/K aaC/aaA 1 NA -1 PAXBP1 HGNC HGNC:13579 protein_coding YES CCDS13619.1 ENSP00000328992 Q9Y5B6.167 UPI000012B294 NM_016631.4 tolerated(0.91) benign(0.062) 2/18 PANTHER:PTHR12214,PANTHER:PTHR12214:SF2,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . AGT . 31.6 NA NA NA NA NA NA NA NA NA 32769827 C21orf62 56245 . GRCh38 chr21 32794242 32794242 + Missense_Mutation SNP C C T NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.321G>A p.Met107Ile p.M107I ENST00000382373 3/3 NA NA NA NA NA NA C21orf62,missense_variant,p.Met60Ile,ENST00000479548,NM_019596.6,NM_001162495.3;C21orf62,missense_variant,p.Met60Ile,ENST00000490358,;C21orf62,missense_variant,p.Met60Ile,ENST00000487113,NM_001162496.3;C21orf62,missense_variant,p.Met107Ile,ENST00000382373,;C21orf62-AS1,intron_variant,,ENST00000382375,;C21orf62-AS1,intron_variant,,ENST00000382377,;C21orf62-AS1,intron_variant,,ENST00000382378,;C21orf62-AS1,intron_variant,,ENST00000454365,;C21orf62-AS1,intron_variant,,ENST00000477513,;C21orf62-AS1,intron_variant,,ENST00000491756,;C21orf62-AS1,intron_variant,,ENST00000612326,;C21orf62-AS1,intron_variant,,ENST00000650763,;C21orf62-AS1,intron_variant,,ENST00000661254,;C21orf62-AS1,intron_variant,,ENST00000666106,;C21orf62-AS1,intron_variant,,ENST00000669746,;C21orf62-AS1,downstream_gene_variant,,ENST00000655231,;AP000280.2,upstream_gene_variant,,ENST00000624800,; T ENSG00000205929 ENST00000382373 Transcript missense_variant 321/878 321/801 107/266 M/I atG/atA COSV66672763 1 NA -1 C21orf62 HGNC HGNC:1305 protein_coding YES ENSP00000371810 H7BYF8.51 UPI0004620DD6 tolerated(0.11) benign(0.034) 3/3 Pfam:PF15137,PANTHER:PTHR35658 NA NA NA NA NA NA NA NA NA 1 NA NA NA NA MODERATE 1 SNV 3 NA 1 NA NA . ACA . 6335.6 NA NA NA NA NA NA NA NA NA 32794242 KCNE1 3753 . GRCh38 chr21 34449533 34449533 + Silent SNP G G A rs1555844211 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.102C>T p.Ser34= p.S34= ENST00000399286 4/4 NA NA NA NA NA NA KCNE1,synonymous_variant,p.Ser34=,ENST00000399286,NM_000219.6;KCNE1,synonymous_variant,p.Ser34=,ENST00000337385,NM_001270402.2,NM_001270403.2;KCNE1,synonymous_variant,p.Ser34=,ENST00000611936,NM_001270404.2;KCNE1,synonymous_variant,p.Ser34=,ENST00000432085,NM_001127668.3;KCNE1,synonymous_variant,p.Ser34=,ENST00000399289,NM_001127669.4;KCNE1,synonymous_variant,p.Ser34=,ENST00000621601,NM_001270405.2;KCNE1,synonymous_variant,p.Ser34=,ENST00000416357,NM_001127670.3;KCNE1,synonymous_variant,p.Ser34=,ENST00000399284,; A ENSG00000180509 ENST00000399286 Transcript synonymous_variant 662/3505 102/390 34/129 S tcC/tcT rs1555844211,COSV61607335 1 NA -1 KCNE1 HGNC HGNC:6240 protein_coding YES CCDS13636.1 ENSP00000382226 P15382.200 C7S316.87 UPI000012F141 NM_000219.6 4/4 PDB-ENSP_mappings:2k21.A,Pfam:PF02060,Prints:PR01604,PANTHER:PTHR15282,PANTHER:PTHR15282:SF10 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA LOW 1 SNV 1 NA 0,1 NA 1 . GGG . 43.6 NA NA NA NA NA NA NA NA NA 34449533 KCNE1 3753 . GRCh38 chr21 34449537 34449537 + Missense_Mutation SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.98G>A p.Arg33Lys p.R33K ENST00000399286 4/4 NA NA NA NA NA NA KCNE1,missense_variant,p.Arg33Lys,ENST00000399286,NM_000219.6;KCNE1,missense_variant,p.Arg33Lys,ENST00000337385,NM_001270402.2,NM_001270403.2;KCNE1,missense_variant,p.Arg33Lys,ENST00000611936,NM_001270404.2;KCNE1,missense_variant,p.Arg33Lys,ENST00000432085,NM_001127668.3;KCNE1,missense_variant,p.Arg33Lys,ENST00000399289,NM_001127669.4;KCNE1,missense_variant,p.Arg33Lys,ENST00000621601,NM_001270405.2;KCNE1,missense_variant,p.Arg33Lys,ENST00000416357,NM_001127670.3;KCNE1,missense_variant,p.Arg33Lys,ENST00000399284,; T ENSG00000180509 ENST00000399286 Transcript missense_variant 658/3505 98/390 33/129 R/K aGg/aAg 1 NA -1 KCNE1 HGNC HGNC:6240 protein_coding YES CCDS13636.1 ENSP00000382226 P15382.200 C7S316.87 UPI000012F141 NM_000219.6 tolerated(0.38) benign(0.006) 4/4 PDB-ENSP_mappings:2k21.A,Pfam:PF02060,Prints:PR01604,PANTHER:PTHR15282,PANTHER:PTHR15282:SF10 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . CCT . 34.6 NA NA NA NA NA NA NA NA NA 34449537 KCNE1 3753 . GRCh38 chr21 34449539 34449539 + Silent SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.96C>T p.Arg32= p.R32= ENST00000399286 4/4 NA NA NA NA NA NA KCNE1,synonymous_variant,p.Arg32=,ENST00000399286,NM_000219.6;KCNE1,synonymous_variant,p.Arg32=,ENST00000337385,NM_001270402.2,NM_001270403.2;KCNE1,synonymous_variant,p.Arg32=,ENST00000611936,NM_001270404.2;KCNE1,synonymous_variant,p.Arg32=,ENST00000432085,NM_001127668.3;KCNE1,synonymous_variant,p.Arg32=,ENST00000399289,NM_001127669.4;KCNE1,synonymous_variant,p.Arg32=,ENST00000621601,NM_001270405.2;KCNE1,synonymous_variant,p.Arg32=,ENST00000416357,NM_001127670.3;KCNE1,synonymous_variant,p.Arg32=,ENST00000399284,; A ENSG00000180509 ENST00000399286 Transcript synonymous_variant 656/3505 96/390 32/129 R cgC/cgT 1 NA -1 KCNE1 HGNC HGNC:6240 protein_coding YES CCDS13636.1 ENSP00000382226 P15382.200 C7S316.87 UPI000012F141 NM_000219.6 4/4 PDB-ENSP_mappings:2k21.A,Pfam:PF02060,Prints:PR01604,PANTHER:PTHR15282,PANTHER:PTHR15282:SF10 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . TGC . 34.6 NA NA NA NA NA NA NA NA NA 34449539 RCAN1 1827 . GRCh38 chr21 34614953 34614961 + In_Frame_Del DEL GCCGCCTCC GCCGCCTCC - rs774268988 NA HCI-EC-23 NORMAL GCCGCCTCC GCCGCCTCC NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.51_59del p.Ala20_Ala22del p.A20_A22del ENST00000313806 1/4 NA NA NA NA NA NA RCAN1,inframe_deletion,p.Ala20_Ala22del,ENST00000313806,NM_004414.7;RCAN1,upstream_gene_variant,,ENST00000399272,NM_001285389.2;RCAN1,upstream_gene_variant,,ENST00000443408,NM_203417.2,NM_001285392.2;RCAN1,non_coding_transcript_exon_variant,,ENST00000463276,;RCAN1,upstream_gene_variant,,ENST00000489903,;,regulatory_region_variant,,ENSR00000300209,; - ENSG00000159200 ENST00000313806 Transcript inframe_deletion 153-161/2503 51-59/759 17-20/252 AEAA/A gcGGAGGCGGCc/gcc rs774268988 1 NA -1 RCAN1 HGNC HGNC:3040 protein_coding CCDS13637.1 ENSP00000320768 P53805.166 UPI00001B4EA7 NM_004414.7 1/4 Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 deletion 1 NA NA NA . CGGCCGCCTCCG . 692.6 NA NA NA NA NA NA NA NA NA 34614952 DYRK1A 1859 . GRCh38 chr21 37505351 37505351 + Silent SNP G G A rs1243416626 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1308G>A p.Gly436= p.G436= ENST00000644942 10/12 NA NA NA NA NA NA DYRK1A,synonymous_variant,p.Gly427=,ENST00000646548,NM_130436.2;DYRK1A,synonymous_variant,p.Gly427=,ENST00000647188,NM_001347721.2;DYRK1A,synonymous_variant,p.Gly398=,ENST00000647504,NM_001347723.1;DYRK1A,synonymous_variant,p.Gly436=,ENST00000338785,NM_101395.2;DYRK1A,synonymous_variant,p.Gly436=,ENST00000644942,;DYRK1A,synonymous_variant,p.Gly427=,ENST00000643624,;DYRK1A,synonymous_variant,p.Gly436=,ENST00000398960,NM_001396.4;DYRK1A,synonymous_variant,p.Gly427=,ENST00000647425,NM_001347722.2;DYRK1A,synonymous_variant,p.Gly436=,ENST00000646523,;DYRK1A,synonymous_variant,p.Gly452=,ENST00000645774,;DYRK1A,synonymous_variant,p.Gly398=,ENST00000642309,;DYRK1A,synonymous_variant,p.Gly436=,ENST00000645424,;DYRK1A,synonymous_variant,p.Gly436=,ENST00000398956,NM_130438.2;DYRK1A,synonymous_variant,p.Gly398=,ENST00000643854,;DYRK1A,non_coding_transcript_exon_variant,,ENST00000646224,;DYRK1A,non_coding_transcript_exon_variant,,ENST00000644367,;DYRK1A,non_coding_transcript_exon_variant,,ENST00000646351,;DYRK1A,non_coding_transcript_exon_variant,,ENST00000643808,; A ENSG00000157540 ENST00000644942 Transcript synonymous_variant 1912/3137 1308/2292 436/763 G ggG/ggA rs1243416626 1 NA 1 DYRK1A HGNC HGNC:3091 protein_coding YES CCDS42925.1 ENSP00000494544 Q13627.208 UPI0000129A31 10/12 Gene3D:1.10.510.10,PDB-ENSP_mappings:2vx3.A,PDB-ENSP_mappings:2vx3.B,PDB-ENSP_mappings:2vx3.C,PDB-ENSP_mappings:2vx3.D,PDB-ENSP_mappings:2wo6.A,PDB-ENSP_mappings:2wo6.B,PDB-ENSP_mappings:3anq.A,PDB-ENSP_mappings:3anq.B,PDB-ENSP_mappings:3anq.C,PDB-ENSP_mappings:3anq.D,PDB-ENSP_mappings:3anr.A,PDB-ENSP_mappings:3anr.B,PDB-ENSP_mappings:3anr.C,PDB-ENSP_mappings:3anr.D,PDB-ENSP_mappings:4aze.A,PDB-ENSP_mappings:4aze.B,PDB-ENSP_mappings:4aze.C,PDB-ENSP_mappings:4mq1.A,PDB-ENSP_mappings:4mq1.B,PDB-ENSP_mappings:4mq1.C,PDB-ENSP_mappings:4mq1.D,PDB-ENSP_mappings:4mq2.A,PDB-ENSP_mappings:4mq2.B,PDB-ENSP_mappings:4mq2.C,PDB-ENSP_mappings:4mq2.D,PDB-ENSP_mappings:4nct.A,PDB-ENSP_mappings:4nct.B,PDB-ENSP_mappings:4nct.C,PDB-ENSP_mappings:4nct.D,PDB-ENSP_mappings:4ylj.A,PDB-ENSP_mappings:4ylj.B,PDB-ENSP_mappings:4ylj.C,PDB-ENSP_mappings:4ylj.D,PDB-ENSP_mappings:4ylk.A,PDB-ENSP_mappings:4yll.A,PDB-ENSP_mappings:4yu2.A,PDB-ENSP_mappings:4yu2.B,PDB-ENSP_mappings:4yu2.C,PDB-ENSP_mappings:4yu2.D,PDB-ENSP_mappings:5a3x.A,PDB-ENSP_mappings:5a3x.B,PDB-ENSP_mappings:5a3x.C,PDB-ENSP_mappings:5a3x.D,PDB-ENSP_mappings:5a4e.A,PDB-ENSP_mappings:5a4e.B,PDB-ENSP_mappings:5a4e.C,PDB-ENSP_mappings:5a4e.D,PDB-ENSP_mappings:5a4l.A,PDB-ENSP_mappings:5a4l.B,PDB-ENSP_mappings:5a4l.C,PDB-ENSP_mappings:5a4l.D,PDB-ENSP_mappings:5a4q.A,PDB-ENSP_mappings:5a4q.B,PDB-ENSP_mappings:5a4q.C,PDB-ENSP_mappings:5a4q.D,PDB-ENSP_mappings:5a4t.A,PDB-ENSP_mappings:5a4t.B,PDB-ENSP_mappings:5a4t.C,PDB-ENSP_mappings:5a4t.D,PDB-ENSP_mappings:5a54.A,PDB-ENSP_mappings:5a54.B,PDB-ENSP_mappings:5a54.C,PDB-ENSP_mappings:5a54.D,PDB-ENSP_mappings:5aik.A,PDB-ENSP_mappings:5aik.B,PDB-ENSP_mappings:5aik.C,PDB-ENSP_mappings:5aik.D,PDB-ENSP_mappings:6a1f.A,PDB-ENSP_mappings:6a1g.A,PDB-ENSP_mappings:6a1g.B,PDB-ENSP_mappings:6eif.A,PDB-ENSP_mappings:6eif.B,PDB-ENSP_mappings:6eif.C,PDB-ENSP_mappings:6eif.D,PDB-ENSP_mappings:6eij.A,PDB-ENSP_mappings:6eij.B,PDB-ENSP_mappings:6eij.C,PDB-ENSP_mappings:6eij.D,PDB-ENSP_mappings:6eil.A,PDB-ENSP_mappings:6eil.B,PDB-ENSP_mappings:6eil.C,PDB-ENSP_mappings:6eil.D,PDB-ENSP_mappings:6eip.A,PDB-ENSP_mappings:6eip.B,PDB-ENSP_mappings:6eip.C,PDB-ENSP_mappings:6eip.D,PDB-ENSP_mappings:6eiq.A,PDB-ENSP_mappings:6eiq.B,PDB-ENSP_mappings:6eiq.C,PDB-ENSP_mappings:6eiq.D,PDB-ENSP_mappings:6eir.A,PDB-ENSP_mappings:6eir.B,PDB-ENSP_mappings:6eir.C,PDB-ENSP_mappings:6eir.D,PDB-ENSP_mappings:6eis.A,PDB-ENSP_mappings:6eis.B,PDB-ENSP_mappings:6eis.C,PDB-ENSP_mappings:6eis.D,PDB-ENSP_mappings:6eiv.A,PDB-ENSP_mappings:6eiv.B,PDB-ENSP_mappings:6eiv.C,PDB-ENSP_mappings:6eiv.D,PDB-ENSP_mappings:6ej4.A,PDB-ENSP_mappings:6ej4.B,PDB-ENSP_mappings:6ej4.C,PDB-ENSP_mappings:6ej4.D,PDB-ENSP_mappings:6qu2.A,PDB-ENSP_mappings:6qu2.B,PDB-ENSP_mappings:6qu2.C,PDB-ENSP_mappings:6qu2.D,PDB-ENSP_mappings:6s11.A,PDB-ENSP_mappings:6s11.B,PDB-ENSP_mappings:6s14.A,PDB-ENSP_mappings:6s17.A,PDB-ENSP_mappings:6s1b.A,PDB-ENSP_mappings:6s1h.A,PDB-ENSP_mappings:6s1i.A,PDB-ENSP_mappings:6s1i.B,PDB-ENSP_mappings:6s1i.C,PDB-ENSP_mappings:6s1i.D,PDB-ENSP_mappings:6s1j.A,PDB-ENSP_mappings:6t6a.A,PDB-ENSP_mappings:6t6a.B,PDB-ENSP_mappings:6t6a.C,PDB-ENSP_mappings:6t6a.D,PDB-ENSP_mappings:6uip.A,PDB-ENSP_mappings:6uip.B,PDB-ENSP_mappings:6uip.C,PDB-ENSP_mappings:6uwy.A,PDB-ENSP_mappings:6uwy.B,PDB-ENSP_mappings:6uwy.C,PDB-ENSP_mappings:6uwy.D,Pfam:PF00069,PROSITE_profiles:PS50011,PANTHER:PTHR24058,PANTHER:PTHR24058:SF12,SMART:SM00220,Superfamily:SSF56112,CDD:cd14226,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV NA NA NA 1 . GGC . 1262.6 7.954e-06 NA 5.782e-05 NA NA NA NA NA NA 37505351 MX1 4599 . GRCh38 chr21 41443803 41443803 + Missense_Mutation SNP A A C rs752142622 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.945A>C p.Glu315Asp p.E315D ENST00000398600 13/19 NA NA NA NA NA NA MX1,missense_variant,p.Glu315Asp,ENST00000398600,NM_001144925.2;MX1,missense_variant,p.Glu315Asp,ENST00000455164,NM_001178046.2;MX1,missense_variant,p.Glu315Asp,ENST00000398598,NM_002462.5;MX1,missense_variant,p.Glu292Asp,ENST00000288383,;MX1,missense_variant,p.Glu315Asp,ENST00000619682,NM_001282920.1;MX1,downstream_gene_variant,,ENST00000417963,;MX1,downstream_gene_variant,,ENST00000424365,;AP001610.2,intron_variant,,ENST00000411427,;MX1,non_coding_transcript_exon_variant,,ENST00000467510,;MX1,upstream_gene_variant,,ENST00000486275,; C ENSG00000157601 ENST00000398600 Transcript missense_variant 1970/3470 945/1989 315/662 E/D gaA/gaC rs752142622 1 NA 1 MX1 HGNC HGNC:7532 protein_coding YES CCDS13673.1 ENSP00000381601 P20591.191 UPI0000206F16 NM_001144925.2 tolerated(0.26) benign(0.06) 13/19 Gene3D:3.40.50.300,PDB-ENSP_mappings:3szr.A,PDB-ENSP_mappings:3zys.B,PDB-ENSP_mappings:3zys.E,PDB-ENSP_mappings:4p4s.A,PDB-ENSP_mappings:4p4s.B,PDB-ENSP_mappings:4p4t.A,PDB-ENSP_mappings:4p4u.A,PDB-ENSP_mappings:5gtm.A,PDB-ENSP_mappings:5gtm.B,Pfam:PF01031,PROSITE_profiles:PS51718,PANTHER:PTHR11566,PANTHER:PTHR11566:SF51,Superfamily:SSF52540,CDD:cd08771 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 2 NA NA NA . AAG . 1925.6 NA NA NA NA NA NA NA NA NA 41443803 UMODL1 89766 . GRCh38 chr21 42084211 42084212 + Frame_Shift_Ins INS - - G novel NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.453dup p.Arg152AlafsTer91 p.R152Afs*91 ENST00000408989 3/22 NA NA NA NA NA NA UMODL1,frameshift_variant,p.Arg80AlafsTer91,ENST00000400424,NM_001199528.3;UMODL1,frameshift_variant,p.Arg80AlafsTer91,ENST00000400427,NM_001199527.2;UMODL1,frameshift_variant,p.Arg152AlafsTer91,ENST00000408989,NM_173568.3;UMODL1,frameshift_variant,p.Arg152AlafsTer91,ENST00000408910,NM_001004416.2;UMODL1,upstream_gene_variant,,ENST00000400421,;UMODL1,upstream_gene_variant,,ENST00000466434,;UMODL1,upstream_gene_variant,,ENST00000468982,;UMODL1,upstream_gene_variant,,ENST00000485357,;UMODL1,upstream_gene_variant,,ENST00000491559,;UMODL1,upstream_gene_variant,,ENST00000497243,; G ENSG00000177398 ENST00000408989 Transcript frameshift_variant 447-448/5262 447-448/4341 149-150/1446 -/X -/G 1 NA 1 UMODL1 HGNC HGNC:12560 protein_coding YES CCDS42935.1 ENSP00000386126 Q5DID0.131 UPI0000D6254B NM_173568.3 3/22 Gene3D:4.10.75.10,Pfam:PF00095,PROSITE_profiles:PS51390,PANTHER:PTHR14002,PANTHER:PTHR14002:SF22,SMART:SM00217,Superfamily:SSF57256,CDD:cd00199 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 insertion 1 6 NA NA . CAG . 5452.64 NA NA NA NA NA NA NA NA NA 42084211 TRPM2 7226 . GRCh38 chr21 44400294 44400294 + Silent SNP C C T rs768244891 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2244C>T p.Ser748= p.S748= ENST00000397932 15/33 NA NA NA NA NA NA TRPM2,synonymous_variant,p.Ser748=,ENST00000397928,NM_003307.3;TRPM2,synonymous_variant,p.Ser748=,ENST00000300482,;TRPM2,synonymous_variant,p.Ser728=,ENST00000300481,NM_001320351.1;TRPM2,synonymous_variant,p.Ser748=,ENST00000397932,NM_001320350.1;TRPM2,non_coding_transcript_exon_variant,,ENST00000498430,; T ENSG00000142185 ENST00000397932 Transcript synonymous_variant 2257/5216 2244/4662 748/1553 S tcC/tcT rs768244891 1 NA 1 TRPM2 HGNC HGNC:12339 protein_coding YES CCDS82681.1 ENSP00000381026 E9PGK7.76 UPI00015DF780 NM_001320350.1 15/33 PANTHER:PTHR13800,PANTHER:PTHR13800:SF2 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . CCG . 4142.6 1.604e-05 0.0001238 NA NA NA NA 1.781e-05 NA NA 44400294 KRTAP10-5 386680 . GRCh38 chr21 44579876 44579876 + Missense_Mutation SNP G G C rs464424 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.703C>G p.Leu235Val p.L235V ENST00000400372 1/1 NA NA NA NA NA NA KRTAP10-5,missense_variant,p.Leu235Val,ENST00000400372,NM_198694.3;TSPEAR,intron_variant,,ENST00000323084,NM_144991.3,NM_001272037.2;KRTAP10-4,intron_variant,,ENST00000622352,;KRTAP10-4,downstream_gene_variant,,ENST00000400374,NM_198687.2;KRTAP10-4,downstream_gene_variant,,ENST00000616689,;TSPEAR,intron_variant,,ENST00000642437,; C ENSG00000241123 ENST00000400372 Transcript missense_variant 729/1150 703/816 235/271 L/V Ctg/Gtg rs464424 1 NA -1 KRTAP10-5 HGNC HGNC:22969 protein_coding YES CCDS42958.1 ENSP00000383223 P60370.121 UPI00003D4D6F NM_198694.3 tolerated(1) benign(0) 1/1 PANTHER:PTHR23262,PANTHER:PTHR23262:SF125 NA 0.9077 0.9366 NA 0.7976 0.9374 0.8405 NA NA NA NA NA NA MODERATE NA SNV NA NA NA NA . AGG . 8938.03 NA NA NA NA NA NA NA NA NA 44579876 KRTAP10-6 386674 . GRCh38 chr21 44592338 44592339 + In_Frame_Ins INS - - GGGGCGCAGCAGCTG rs587611810 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.146_147insCAGCTGCTGCGCCCC p.Pro49_Ala50insSerCysCysAlaPro p.P49_A50insSCCAP ENST00000400368 1/1 NA NA NA NA NA NA KRTAP10-6,inframe_insertion,p.Pro49_Ala50insSerCysCysAlaPro,ENST00000400368,NM_198688.3;TSPEAR,intron_variant,,ENST00000323084,NM_144991.3,NM_001272037.2;KRTAP10-4,intron_variant,,ENST00000622352,;TSPEAR,intron_variant,,ENST00000642437,;,regulatory_region_variant,,ENSR00000664736,;,regulatory_region_variant,,ENSR00001056939,; GGGGCGCAGCAGCTG ENSG00000188155 ENST00000400368 Transcript inframe_insertion 167-168/1238 146-147/1098 49/365 P/PSCCAP ccg/ccCAGCTGCTGCGCCCCg rs587611810 1 NA -1 KRTAP10-6 HGNC HGNC:20523 protein_coding YES CCDS42959.1 ENSP00000383219 P60371.124 UPI000021C43D NM_198688.3 1/1 PANTHER:PTHR23262,PANTHER:PTHR23262:SF170,Low_complexity_(Seg):seg NA 0.1188 0.2522 NA 0.1379 0.3231 0.2515 NA NA NA NA NA NA MODERATE NA insertion NA NA NA NA . CCG . 2320.06 NA NA NA NA NA NA NA NA NA 44592338 KRTAP10-9 386676 . GRCh38 chr21 44627698 44627698 + Frame_Shift_Del DEL C C - novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.531del p.Cys178AlafsTer203 p.C178Afs*203 ENST00000397911 1/1 NA NA NA NA NA NA KRTAP10-9,frameshift_variant,p.Cys178AlafsTer203,ENST00000397911,NM_198690.3;TSPEAR,intron_variant,,ENST00000323084,NM_144991.3,NM_001272037.2;KRTAP10-9,intron_variant,,ENST00000616529,;KRTAP10-4,intron_variant,,ENST00000622352,;KRTAP10-9,intron_variant,,ENST00000484861,;TSPEAR,intron_variant,,ENST00000642437,;,regulatory_region_variant,,ENSR00000664744,;,regulatory_region_variant,,ENSR00000664745,; - ENSG00000221837 ENST00000397911 Transcript frameshift_variant 606/1286 527/879 176/292 S/X tCc/tc 1 NA 1 KRTAP10-9 HGNC HGNC:22971 protein_coding YES CCDS42961.1 ENSP00000381009 P60411.128 UPI000036709D NM_198690.3 1/1 Pfam:PF13885,PANTHER:PTHR23262,PANTHER:PTHR23262:SF175,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH NA deletion NA 4 NA NA . CTCC . 8664.6 NA NA NA NA NA NA NA NA NA 44627697 COL18A1 80781 . GRCh38 chr21 45505229 45505229 + Frame_Shift_Del DEL C C - rs1268694070 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4214del p.Pro1405GlnfsTer41 p.P1405Qfs*41 ENST00000359759 34/41 NA NA NA NA NA NA COL18A1,frameshift_variant,p.Pro1405GlnfsTer41,ENST00000359759,NM_130444.3;COL18A1,frameshift_variant,p.Pro1170GlnfsTer41,ENST00000355480,NM_030582.4;COL18A1,frameshift_variant,p.Pro990GlnfsTer41,ENST00000651438,NM_001379500.1;COL18A1,frameshift_variant,p.Pro337GlnfsTer42,ENST00000342220,;SLC19A1,intron_variant,,ENST00000417954,;SLC19A1,intron_variant,,ENST00000567670,;COL18A1,upstream_gene_variant,,ENST00000423214,;SLC19A1,upstream_gene_variant,,ENST00000461785,;COL18A1,upstream_gene_variant,,ENST00000473212,; - ENSG00000182871 ENST00000359759 Transcript frameshift_variant 4209/6586 4209/5265 1403/1754 G/X ggC/gg rs1268694070 1 NA 1 COL18A1 HGNC HGNC:2195 protein_coding YES CCDS77643.1 ENSP00000352798 P39060.214 UPI0001838820 NM_130444.3 34/41 PANTHER:PTHR24023,PANTHER:PTHR24023:SF959,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 5 5 NA 1 . GGCC . 3649.6 4.459e-06 NA NA NA NA NA 1.007e-05 NA NA 45505228 SLC19A1 6573 . GRCh38 chr21 45516031 45516031 + Frame_Shift_Del DEL G G - novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1403del p.Pro468ArgfsTer5 p.P468Rfs*5 ENST00000311124 6/6 NA NA NA NA NA NA SLC19A1,frameshift_variant,p.Pro468ArgfsTer5,ENST00000311124,NM_194255.4,NM_001352510.2,NM_001352512.2;SLC19A1,frameshift_variant,p.Pro428ArgfsTer5,ENST00000485649,NM_001205207.3;SLC19A1,intron_variant,,ENST00000380010,NM_001205206.3;SLC19A1,intron_variant,,ENST00000417954,;SLC19A1,intron_variant,,ENST00000567670,;SLC19A1,intron_variant,,ENST00000650808,NM_001352511.2;COL18A1,downstream_gene_variant,,ENST00000342220,;COL18A1,downstream_gene_variant,,ENST00000355480,NM_030582.4;COL18A1,downstream_gene_variant,,ENST00000359759,NM_130444.3;COL18A1,downstream_gene_variant,,ENST00000423214,;COL18A1,downstream_gene_variant,,ENST00000651438,NM_001379500.1;SLC19A1,upstream_gene_variant,,ENST00000460174,;SLC19A1,upstream_gene_variant,,ENST00000468508,;COL18A1,downstream_gene_variant,,ENST00000473212,; - ENSG00000173638 ENST00000311124 Transcript frameshift_variant 1525/4991 1403/1776 468/591 P/X cCg/cg 1 NA -1 SLC19A1 HGNC HGNC:10937 protein_coding YES CCDS13725.1 ENSP00000308895 P41440.172 UPI000012AA0F NM_194255.4,NM_001352510.2,NM_001352512.2 6/6 PIRSF:PIRSF028739,PIRSF:PIRSF500793,PANTHER:PTHR10686,PANTHER:PTHR10686:SF12,TIGRFAM:TIGR00806 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 NA NA 1 . CCGG . 2406.6 NA NA NA NA NA NA NA NA NA 45516030 PCNT 5116 . GRCh38 chr21 46334710 46334710 + Missense_Mutation SNP A A C rs763599513 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.581A>C p.Gln194Pro p.Q194P ENST00000359568 3/47 NA NA NA NA NA NA PCNT,missense_variant,p.Gln194Pro,ENST00000359568,NM_006031.6,NM_001315529.2;PCNT,non_coding_transcript_exon_variant,,ENST00000480896,;PCNT,non_coding_transcript_exon_variant,,ENST00000490468,; C ENSG00000160299 ENST00000359568 Transcript missense_variant 654/10526 581/10011 194/3336 Q/P cAg/cCg rs763599513 1 NA 1 PCNT HGNC HGNC:16068 protein_coding YES CCDS33592.1 ENSP00000352572 O95613.191 UPI00001AEB88 NM_006031.6,NM_001315529.2 tolerated_low_confidence(0.11) benign(0.227) 3/47 PANTHER:PTHR44981,PANTHER:PTHR44981:SF3 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . CAG . 14775.6 3.579e-05 NA NA NA NA NA 7.911e-05 NA NA 46334710 OR11H1 81061 . GRCh38 chr22 15528346 15528346 + Missense_Mutation SNP T T C rs71235604 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.155T>C p.Val52Ala p.V52A ENST00000643195 1/1 NA NA NA NA NA NA OR11H1,missense_variant,p.Val52Ala,ENST00000643195,NM_001005239.1; C ENSG00000130538 ENST00000643195 Transcript missense_variant 155/948 155/948 52/315 V/A gTc/gCc rs71235604 1 NA 1 OR11H1 HGNC HGNC:15404 protein_coding YES ENSP00000495403 A0A126GWF9.12 UPI0000041E0A NM_001005239.1 tolerated(1) benign(0) 1/1 Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,CDD:cd15913,PANTHER:PTHR24242,PANTHER:PTHR24242:SF201,Gene3D:1.20.1070.10,Pfam:PF13853,Superfamily:SSF81321,Prints:PR00237 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV NA NA NA NA . GTC . 1623.6 NA NA NA NA NA NA NA NA NA 15528346 OR11H1 81061 . GRCh38 chr22 15528427 15528427 + Missense_Mutation SNP C C T rs202150076 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.236C>T p.Ser79Phe p.S79F ENST00000643195 1/1 NA NA NA NA NA NA OR11H1,missense_variant,p.Ser79Phe,ENST00000643195,NM_001005239.1; T ENSG00000130538 ENST00000643195 Transcript missense_variant 236/948 236/948 79/315 S/F tCt/tTt rs202150076 1 NA 1 OR11H1 HGNC HGNC:15404 protein_coding YES ENSP00000495403 A0A126GWF9.12 UPI0000041E0A NM_001005239.1 deleterious(0) probably_damaging(0.945) 1/1 Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,CDD:cd15913,PANTHER:PTHR24242,PANTHER:PTHR24242:SF201,Gene3D:1.20.1070.10,Pfam:PF13853,Superfamily:SSF81321 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV NA NA NA NA . TCT . 1036.6 3.549e-05 NA NA NA NA NA 9.863e-05 NA NA 15528427 XKR3 150165 . GRCh38 chr22 16783675 16783675 + Missense_Mutation SNP G G T rs5748622 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1324C>A p.His442Asn p.H442N ENST00000331428 4/4 NA NA NA NA NA NA XKR3,missense_variant,p.His442Asn,ENST00000331428,NM_175878.4,NM_001318251.1;,regulatory_region_variant,,ENSR00000301023,; T ENSG00000172967 ENST00000331428 Transcript missense_variant 1427/1690 1324/1380 442/459 H/N Cac/Aac rs5748622 1 NA -1 XKR3 HGNC HGNC:28778 protein_coding YES CCDS42975.1 ENSP00000331704 Q5GH77.101 UPI000013EFAE NM_175878.4,NM_001318251.1 deleterious_low_confidence(0.02) benign(0.094) 4/4 PANTHER:PTHR14297,PANTHER:PTHR14297:SF9 NA 0.7859 0.562 NA 0.369 0.5915 0.8691 NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . TGA . 3247.03 NA NA NA NA NA NA NA NA NA 16783675 MICAL3 57553 . GRCh38 chr22 17896973 17896973 + Silent SNP G G C rs768280581 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.957C>G p.Ala319= p.A319= ENST00000441493 8/32 NA NA NA NA NA NA MICAL3,synonymous_variant,p.Ala319=,ENST00000441493,NM_015241.3;MICAL3,synonymous_variant,p.Ala319=,ENST00000414725,;MICAL3,synonymous_variant,p.Ala319=,ENST00000585038,NM_001136004.3;MICAL3,synonymous_variant,p.Ala319=,ENST00000400561,NM_001122731.2;MICAL3,synonymous_variant,p.Ala319=,ENST00000383094,;MICAL3,upstream_gene_variant,,ENST00000461307,;MICAL3,missense_variant,p.Arg286Gly,ENST00000495076,;MICAL3,synonymous_variant,p.Ala319=,ENST00000672019,;,regulatory_region_variant,,ENSR00000666024,;,regulatory_region_variant,,ENSR00000666026,; C ENSG00000243156 ENST00000441493 Transcript synonymous_variant 1312/9447 957/6009 319/2002 A gcC/gcG rs768280581 1 NA -1 MICAL3 HGNC HGNC:24694 protein_coding YES CCDS46659.1 ENSP00000416015 Q7RTP6.172 UPI0001823FDE NM_015241.3 8/32 Gene3D:3.50.50.70,PDB-ENSP_mappings:6ici.A,PANTHER:PTHR23167,PANTHER:PTHR23167:SF51,Superfamily:SSF51905 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . CGG . 2009.6 NA NA NA NA NA NA NA NA NA 17896973 RIMBP3 0 . GRCh38 chr22 18606984 18606984 + Missense_Mutation SNP C C T rs199627467 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4451G>A p.Arg1484Lys p.R1484K ENST00000619918 1/1 NA NA NA NA NA NA RIMBP3,missense_variant,p.Arg1484Lys,ENST00000619918,NM_015672.2;AC023490.1,downstream_gene_variant,,ENST00000614296,;RN7SKP131,upstream_gene_variant,,ENST00000410698,; T ENSG00000275793 ENST00000619918 Transcript missense_variant 4936/6105 4451/4920 1484/1639 R/K aGg/aAg rs199627467 1 NA -1 RIMBP3 HGNC HGNC:29344 protein_coding YES CCDS46665.1 ENSP00000483386 Q9UFD9.150 UPI0000237729 NM_015672.2 deleterious(0) benign(0.02) 1/1 Gene3D:2.30.30.40,PROSITE_profiles:PS50002,PANTHER:PTHR14234,PANTHER:PTHR14234:SF21,SMART:SM00326,Superfamily:SSF50044 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV NA NA NA NA . CCT . 197.6 NA NA NA NA NA NA NA NA NA 18606984 RIMBP3 0 . GRCh38 chr22 18609475 18609476 + Frame_Shift_Ins INS - - GG rs572103772 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1958_1959dup p.Gly654ProfsTer3 p.G654Pfs*3 ENST00000619918 1/1 NA NA NA NA NA NA RIMBP3,frameshift_variant,p.Gly654ProfsTer3,ENST00000619918,NM_015672.2;AC023490.1,downstream_gene_variant,,ENST00000614296,;RN7SKP131,upstream_gene_variant,,ENST00000410698,;,regulatory_region_variant,,ENSR00000143670,;,regulatory_region_variant,,ENSR00000666182,;,TF_binding_site_variant,,ENSM00206533754,; GG ENSG00000275793 ENST00000619918 Transcript frameshift_variant 2444-2445/6105 1959-1960/4920 653-654/1639 -/X -/CC rs572103772 1 NA -1 RIMBP3 HGNC HGNC:29344 protein_coding YES CCDS46665.1 ENSP00000483386 Q9UFD9.150 UPI0000237729 NM_015672.2 1/1 PANTHER:PTHR14234,PANTHER:PTHR14234:SF21 NA 0.0045 0.0029 NA NA 0.004 0.0061 NA 0.02679 NA NA NA NA HIGH 1 insertion NA NA NA NA . CCG . 96.64 NA NA NA NA NA NA NA NA NA 18609475 DGCR2 9993 . GRCh38 chr22 19039047 19039047 + Missense_Mutation SNP G G A rs139200875 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1471C>T p.Arg491Trp p.R491W ENST00000545799 11/11 NA NA NA NA NA NA DGCR2,missense_variant,p.Arg491Trp,ENST00000545799,;DGCR2,missense_variant,p.Arg491Trp,ENST00000263196,NM_001184781.2,NM_005137.3;DGCR2,missense_variant,p.Arg450Trp,ENST00000537045,NM_001173533.1,NM_001173534.2;DGCR2,missense_variant,p.Arg267Trp,ENST00000389262,;DGCR2,non_coding_transcript_exon_variant,,ENST00000467659,;CA15P1,upstream_gene_variant,,ENST00000481698,; A ENSG00000070413 ENST00000545799 Transcript missense_variant 1719/4484 1471/1653 491/550 R/W Cgg/Tgg rs139200875 1 NA -1 DGCR2 HGNC HGNC:2845 protein_coding YES ENSP00000445069 F6SYP7.46 UPI000045702E deleterious_low_confidence(0.01) possibly_damaging(0.742) 11/11 PANTHER:PTHR15256 NA NA NA NA NA NA NA 0.000227 0.0008143 NA NA NA NA MODERATE 1 SNV 5 NA NA 1 . CGG . 1072.6 0.0002505 0.0002492 0.0003474 NA NA NA 0.0003899 0.0003285 3.267e-05 19039047 DGCR8 54487 . GRCh38 chr22 20094792 20094792 + Silent SNP C C T rs767953743 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1785C>T p.Leu595= p.L595= ENST00000351989 9/14 NA NA NA NA NA NA DGCR8,synonymous_variant,p.Leu595=,ENST00000351989,NM_022720.7;DGCR8,synonymous_variant,p.Leu562=,ENST00000383024,NM_001190326.1;DGCR8,synonymous_variant,p.Leu562=,ENST00000407755,;DGCR8,non_coding_transcript_exon_variant,,ENST00000495826,;DGCR8,non_coding_transcript_exon_variant,,ENST00000498171,;DGCR8,non_coding_transcript_exon_variant,,ENST00000491892,; T ENSG00000128191 ENST00000351989 Transcript synonymous_variant 2205/4506 1785/2322 595/773 L ctC/ctT rs767953743 1 NA 1 DGCR8 HGNC HGNC:2847 protein_coding YES CCDS13773.1 ENSP00000263209 Q8WYQ5.178 UPI0000129225 NM_022720.7 9/14 PDB-ENSP_mappings:2yt4.A,PDB-ENSP_mappings:6lxd.B,PDB-ENSP_mappings:6lxd.C,PDB-ENSP_mappings:6lxe.B,PDB-ENSP_mappings:6lxe.C,PDB-ENSP_mappings:6v5b.B,PDB-ENSP_mappings:6v5b.C,PDB-ENSP_mappings:6v5c.B,PDB-ENSP_mappings:6v5c.C,PANTHER:PTHR13482,Gene3D:3.30.160.20 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . TCG . 889.6 3.978e-06 NA NA NA NA NA 8.795e-06 NA NA 20094792 LZTR1 8216 . GRCh38 chr22 20991776 20991776 + Missense_Mutation SNP T T C novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.940T>C p.Tyr314His p.Y314H ENST00000646124 9/21 NA NA NA NA NA NA LZTR1,missense_variant,p.Tyr314His,ENST00000646124,NM_006767.4;LZTR1,downstream_gene_variant,,ENST00000644435,;LZTR1,downstream_gene_variant,,ENST00000645935,;AC002470.2,non_coding_transcript_exon_variant,,ENST00000479606,;LZTR1,downstream_gene_variant,,ENST00000480895,;LZTR1,upstream_gene_variant,,ENST00000643710,;LZTR1,3_prime_UTR_variant,,ENST00000642151,;LZTR1,3_prime_UTR_variant,,ENST00000497716,;LZTR1,non_coding_transcript_exon_variant,,ENST00000495142,;LZTR1,non_coding_transcript_exon_variant,,ENST00000643578,;LZTR1,non_coding_transcript_exon_variant,,ENST00000646506,;LZTR1,non_coding_transcript_exon_variant,,ENST00000461510,;LZTR1,downstream_gene_variant,,ENST00000414985,;LZTR1,upstream_gene_variant,,ENST00000415354,;LZTR1,upstream_gene_variant,,ENST00000415817,;LZTR1,upstream_gene_variant,,ENST00000439171,;LZTR1,downstream_gene_variant,,ENST00000443265,;LZTR1,upstream_gene_variant,,ENST00000452988,;LZTR1,upstream_gene_variant,,ENST00000463909,;LZTR1,upstream_gene_variant,,ENST00000491432,;LZTR1,upstream_gene_variant,,ENST00000492480,;LZTR1,downstream_gene_variant,,ENST00000493460,;LZTR1,upstream_gene_variant,,ENST00000498649,; C ENSG00000099949 ENST00000646124 Transcript missense_variant 1015/4282 940/2523 314/840 Y/H Tat/Cat 1 NA 1 LZTR1 HGNC HGNC:6742 protein_coding YES CCDS33606.1 ENSP00000496779 Q8N653.152 A0A384NL67.8 UPI000013C695 NM_006767.4 deleterious(0) probably_damaging(0.985) 9/21 PANTHER:PTHR46376,Pfam:PF01344,Gene3D:2.120.10.80,SMART:SM00612,Superfamily:SSF117281 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE NA SNV NA NA NA 1 . CTA . 3612.6 NA NA NA NA NA NA NA NA NA 20991776 RIMBP3B 0 . GRCh38 chr22 21388309 21388309 + Missense_Mutation SNP G G A rs468931 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4451G>A p.Arg1484Lys p.R1484K ENST00000620804 1/1 NA NA NA NA NA NA RIMBP3B,missense_variant,p.Arg1484Lys,ENST00000620804,NM_001128635.1;AP000552.3,downstream_gene_variant,,ENST00000516211,;RN7SKP63,upstream_gene_variant,,ENST00000363187,; A ENSG00000274600 ENST00000620804 Transcript missense_variant 4936/6105 4451/4920 1484/1639 R/K aGg/aAg rs468931 1 NA 1 RIMBP3B HGNC HGNC:33891 protein_coding YES CCDS46668.1 ENSP00000479326 A6NNM3.97 UPI0000237732 NM_001128635.1 deleterious(0) benign(0.026) 1/1 Gene3D:2.30.30.40,PROSITE_profiles:PS50002,PANTHER:PTHR14234,PANTHER:PTHR14234:SF21,SMART:SM00326,Superfamily:SSF50044 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV NA NA NA NA . AGG . 389.6 NA NA NA NA NA NA NA NA NA 21388309 HIC2 23119 . GRCh38 chr22 21445370 21445370 + Frame_Shift_Del DEL C C - rs745918762 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.481del p.Arg161AlafsTer113 p.R161Afs*113 ENST00000443632 2/2 NA NA NA NA NA NA HIC2,frameshift_variant,p.Arg161AlafsTer113,ENST00000443632,;HIC2,frameshift_variant,p.Arg161AlafsTer113,ENST00000407464,NM_015094.3;HIC2,frameshift_variant,p.Arg161AlafsTer113,ENST00000407598,; - ENSG00000169635 ENST00000443632 Transcript frameshift_variant 847/6940 475/1848 159/615 P/X Ccc/cc rs745918762 1 NA 1 HIC2 HGNC HGNC:18595 protein_coding YES CCDS13789.1 ENSP00000387757 Q96JB3.179 UPI000012C71C 2/2 Gene3D:3.30.710.10,PANTHER:PTHR24394,PANTHER:PTHR24394:SF22,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA 0.006704 0.00739 NA NA NA NA HIGH 1 deletion 1 6 NA NA . GGCC . 3448.6 8.27e-05 7.989e-05 7.394e-05 NA 6.254e-05 0.0001215 7.387e-05 NA 0.0001587 21445369 IGLV5-48 0 . GRCh38 chr22 22353253 22353253 + Silent SNP T T C rs755876353 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.189T>C p.Ser63= p.S63= ENST00000390293 2/2 NA NA NA NA NA NA IGLV5-48,synonymous_variant,p.Ser63=,ENST00000390293,;IGLV1-47,upstream_gene_variant,,ENST00000390294,; C ENSG00000211647 ENST00000390293 Transcript synonymous_variant 189/369 189/318 63/105 S agT/agC rs755876353 1 NA 1 IGLV5-48 HGNC HGNC:5925 IG_V_gene YES ENSP00000374828 A0A075B6I7.34 UPI0004620D49 2/2 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV NA NA NA NA . GTC . 11234.03 NA NA NA NA NA NA NA NA NA 22353253 IGLV5-48 0 . GRCh38 chr22 22353348 22353348 + Missense_Mutation SNP C C G rs73880635 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.284C>G p.Thr95Ser p.T95S ENST00000390293 2/2 NA NA NA NA NA NA IGLV5-48,missense_variant,p.Thr95Ser,ENST00000390293,;IGLV1-47,upstream_gene_variant,,ENST00000390294,; G ENSG00000211647 ENST00000390293 Transcript missense_variant 284/369 284/318 95/105 T/S aCc/aGc rs73880635 1 NA 1 IGLV5-48 HGNC HGNC:5925 IG_V_gene YES ENSP00000374828 A0A075B6I7.34 UPI0004620D49 tolerated(0.22) benign(0.006) 2/2 NA 0.8215 0.8429 NA 0.7986 0.7813 0.7873 NA NA NA NA NA NA MODERATE 1 SNV NA NA NA NA . ACC . 8507.03 NA NA NA NA NA NA NA NA NA 22353348 IGLV3-22 0 . GRCh38 chr22 22704700 22704700 + Missense_Mutation SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.223G>A p.Gly75Arg p.G75R ENST00000390307 2/2 NA NA NA NA NA NA IGLV3-22,missense_variant,p.Gly75Arg,ENST00000390307,;IGLVVI-22-1,downstream_gene_variant,,ENST00000521183,; A ENSG00000211661 ENST00000390307 Transcript missense_variant 287/409 223/345 75/115 G/R Gga/Aga 1 NA 1 IGLV3-22 HGNC HGNC:5906 IG_V_gene YES ENSP00000374842 A0A075B6J6.39 UPI000173A2CB deleterious(0.02) probably_damaging(0.929) 2/2 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV NA NA NA NA . TGG . 9097.6 NA NA NA NA NA NA NA NA NA 22704700 IGLJ3 0 . GRCh38 chr22 22904902 22904902 + Missense_Mutation SNP T T C rs2009433 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.28T>C p.Ser10Pro p.S10P ENST00000390324 1/1 NA NA NA NA NA NA IGLJ3,missense_variant,p.Ser10Pro,ENST00000390324,;IGLC2,downstream_gene_variant,,ENST00000390323,;IGLC3,upstream_gene_variant,,ENST00000390325,; C ENSG00000211678 ENST00000390324 Transcript missense_variant 53/176 28/151 10/50 S/P Tcc/Ccc rs2009433 1 NA 1 IGLJ3 HGNC HGNC:5865 IG_J_gene YES ENSP00000419781 A0A0A0MT99.21 UPI0004620DD8 tolerated_low_confidence(0.97) benign(0) 1/1 NA 0.6029 0.4885 NA 0.4941 0.4473 0.4857 NA NA NA NA NA NA MODERATE 1 SNV NA NA NA NA . GTC . 14538.02 NA NA NA NA NA NA NA NA NA 22904902 IGLC3 0 . GRCh38 chr22 22906379 22906379 + Silent SNP A A G rs199698958 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.39A>G p.Pro13= p.P13= ENST00000390325 1/1 NA NA NA NA NA NA IGLC3,synonymous_variant,p.Pro13=,ENST00000390325,;IGLC2,downstream_gene_variant,,ENST00000390323,;IGLJ3,downstream_gene_variant,,ENST00000390324,;IGLJ4,upstream_gene_variant,,ENST00000390326,;IGLC4,upstream_gene_variant,,ENST00000517690,; G ENSG00000211679 ENST00000390325 Transcript synonymous_variant 38/462 39/321 13/106 P ccA/ccG rs199698958 1 NA 1 IGLC3 HGNC HGNC:5857 IG_C_gene YES ENSP00000374857 P0DOY3.19 UPI0004620AB0 1/1 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV NA NA NA NA . CAC . 195.6 NA NA NA NA NA NA NA NA NA 22906379 DERL3 91319 . GRCh38 chr22 23838708 23838708 + Splice_Region SNP C C T rs760978774 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.159+3G>A ENST00000406855 NA NA NA NA NA NA DERL3,splice_region_variant,,ENST00000318109,NM_001002862.3;DERL3,splice_region_variant,,ENST00000406855,NM_001135751.2;DERL3,splice_region_variant,,ENST00000476077,NM_001363072.2,NM_198440.4;DERL3,synonymous_variant,p.Val34=,ENST00000404056,;SMARCB1,downstream_gene_variant,,ENST00000263121,;SMARCB1,downstream_gene_variant,,ENST00000344921,NM_001362877.2,NM_001317946.2;SMARCB1,downstream_gene_variant,,ENST00000407422,NM_001007468.3;SMARCB1,downstream_gene_variant,,ENST00000644036,NM_003073.5;DERL3,upstream_gene_variant,,ENST00000464023,;DERL3,upstream_gene_variant,,ENST00000464034,;DERL3,upstream_gene_variant,,ENST00000488272,;DERL3,upstream_gene_variant,,ENST00000493596,;DERL3,splice_region_variant,,ENST00000290730,;DERL3,splice_region_variant,,ENST00000464110,;SMARCB1,downstream_gene_variant,,ENST00000644462,;SMARCB1,downstream_gene_variant,,ENST00000645799,;SMARCB1,downstream_gene_variant,,ENST00000646723,;SMARCB1,downstream_gene_variant,,ENST00000647057,;,regulatory_region_variant,,ENSR00001058504,;,TF_binding_site_variant,,ENSM00525797618,;,TF_binding_site_variant,,ENSM00201687375,; T ENSG00000099958 ENST00000406855 Transcript splice_region_variant,intron_variant rs760978774 1 NA -1 DERL3 HGNC HGNC:14236 protein_coding YES CCDS46672.1 ENSP00000384744 Q96Q80.140 UPI00001C2050 NM_001135751.2 2/6 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . TCA . 2033.6 3.898e-05 NA NA NA NA NA 8.452e-05 0.0002315 NA 23838708 GSTT2B 653689 . GRCh38 chr22 23958425 23958425 + Missense_Mutation SNP C C T rs565068798 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.385G>A p.Glu129Lys p.E129K ENST00000290765 4/5 NA NA NA NA NA NA GSTT2B,missense_variant,p.Glu129Lys,ENST00000290765,NM_001080843.4;GSTT2B,missense_variant,p.Glu129Lys,ENST00000404172,NM_001363804.1;AP000350.3,downstream_gene_variant,,ENST00000440099,; T ENSG00000133433 ENST00000290765 Transcript missense_variant 449/1108 385/735 129/244 E/K Gag/Aag rs565068798 1 NA -1 GSTT2B HGNC HGNC:33437 protein_coding YES CCDS33617.1 ENSP00000290765 P0CG30.76 G9J6Q5.78 UPI000011244D NM_001080843.4 tolerated(0.76) benign(0) 4/5 Gene3D:1.20.1050.10,PDB-ENSP_mappings:1ljr.A,PDB-ENSP_mappings:1ljr.B,PDB-ENSP_mappings:2ljr.A,PDB-ENSP_mappings:2ljr.B,PDB-ENSP_mappings:3ljr.A,PDB-ENSP_mappings:3ljr.B,PDB-ENSP_mappings:4mpg.A,PDB-ENSP_mappings:4mpg.B,Pfam:PF00043,PROSITE_profiles:PS50405,PANTHER:PTHR43917,PANTHER:PTHR43917:SF4,SFLD:SFLDG00358,SFLD:SFLDG01153,Superfamily:SSF47616,CDD:cd03183 2e-04 NA NA NA 0.001 NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . TCG . 11475.6 8.442e-06 NA NA NA 5.726e-05 NA NA 0.0001692 NA 23958425 KIAA1671 85379 . GRCh38 chr22 25029315 25029315 + Missense_Mutation SNP A A G rs17667531 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1316A>G p.Lys439Arg p.K439R ENST00000358431 1/11 NA NA NA NA NA NA KIAA1671,missense_variant,p.Lys439Arg,ENST00000358431,NM_001145206.1;KIAA1671,missense_variant,p.Lys439Arg,ENST00000406486,;AL022323.4,upstream_gene_variant,,ENST00000624101,; G ENSG00000197077 ENST00000358431 Transcript missense_variant 1342/10490 1316/5421 439/1806 K/R aAg/aGg rs17667531 1 NA 1 KIAA1671 HGNC HGNC:29345 protein_coding YES CCDS46676.1 ENSP00000351207 Q9BY89.123 UPI00002073DC NM_001145206.1 deleterious(0.01) possibly_damaging(0.801) 1/11 PANTHER:PTHR22042,PANTHER:PTHR22042:SF3 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . AAG . 6474.6 NA NA NA NA NA NA NA NA NA 25029315 KIAA1671 85379 . GRCh38 chr22 25029373 25029373 + Silent SNP T T C rs11704667 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1374T>C p.Ser458= p.S458= ENST00000358431 1/11 NA NA NA NA NA NA KIAA1671,synonymous_variant,p.Ser458=,ENST00000358431,NM_001145206.1;KIAA1671,synonymous_variant,p.Ser458=,ENST00000406486,;AL022323.4,upstream_gene_variant,,ENST00000624101,; C ENSG00000197077 ENST00000358431 Transcript synonymous_variant 1400/10490 1374/5421 458/1806 S tcT/tcC rs11704667 1 NA 1 KIAA1671 HGNC HGNC:29345 protein_coding YES CCDS46676.1 ENSP00000351207 Q9BY89.123 UPI00002073DC NM_001145206.1 1/11 PANTHER:PTHR22042,PANTHER:PTHR22042:SF3,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . CTC . 5677.6 NA NA NA NA NA NA NA NA NA 25029373 KIAA1671 85379 . GRCh38 chr22 25029436 25029436 + Silent SNP T T C rs11704674 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1437T>C p.Val479= p.V479= ENST00000358431 1/11 NA NA NA NA NA NA KIAA1671,synonymous_variant,p.Val479=,ENST00000358431,NM_001145206.1;KIAA1671,synonymous_variant,p.Val479=,ENST00000406486,;AL022323.4,upstream_gene_variant,,ENST00000624101,; C ENSG00000197077 ENST00000358431 Transcript synonymous_variant 1463/10490 1437/5421 479/1806 V gtT/gtC rs11704674 1 NA 1 KIAA1671 HGNC HGNC:29345 protein_coding YES CCDS46676.1 ENSP00000351207 Q9BY89.123 UPI00002073DC NM_001145206.1 1/11 PANTHER:PTHR22042,PANTHER:PTHR22042:SF3,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . TTC . 5415.6 NA NA NA NA NA NA NA NA NA 25029436 KIAA1671 85379 . GRCh38 chr22 25029472 25029472 + Silent SNP A A C rs12330067 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1473A>C p.Ser491= p.S491= ENST00000358431 1/11 NA NA NA NA NA NA KIAA1671,synonymous_variant,p.Ser491=,ENST00000358431,NM_001145206.1;KIAA1671,synonymous_variant,p.Ser491=,ENST00000406486,;AL022323.4,upstream_gene_variant,,ENST00000624101,; C ENSG00000197077 ENST00000358431 Transcript synonymous_variant 1499/10490 1473/5421 491/1806 S tcA/tcC rs12330067 1 NA 1 KIAA1671 HGNC HGNC:29345 protein_coding YES CCDS46676.1 ENSP00000351207 Q9BY89.123 UPI00002073DC NM_001145206.1 1/11 PANTHER:PTHR22042,PANTHER:PTHR22042:SF3,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA 1 NA NA . CAG . 4375.6 NA NA NA NA NA NA NA NA NA 25029472 KIAA1671 85379 . GRCh38 chr22 25032677 25032677 + Missense_Mutation SNP C C T rs71321020 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1610C>T p.Pro537Leu p.P537L ENST00000358431 2/11 NA NA NA NA NA NA KIAA1671,missense_variant,p.Pro537Leu,ENST00000358431,NM_001145206.1;KIAA1671,missense_variant,p.Pro537Leu,ENST00000406486,; T ENSG00000197077 ENST00000358431 Transcript missense_variant 1636/10490 1610/5421 537/1806 P/L cCt/cTt rs71321020 1 NA 1 KIAA1671 HGNC HGNC:29345 protein_coding YES CCDS46676.1 ENSP00000351207 Q9BY89.123 UPI00002073DC NM_001145206.1 tolerated(0.07) possibly_damaging(0.563) 2/11 PANTHER:PTHR22042,PANTHER:PTHR22042:SF3,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CCT . 1188.6 NA NA NA NA NA NA NA NA NA 25032677 KIAA1671 85379 . GRCh38 chr22 25039945 25039945 + Missense_Mutation SNP G G A NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2815G>A p.Ala939Thr p.A939T ENST00000358431 3/11 NA NA NA NA NA NA KIAA1671,missense_variant,p.Ala939Thr,ENST00000358431,NM_001145206.1;KIAA1671,missense_variant,p.Ala939Thr,ENST00000406486,;KIAA1671,upstream_gene_variant,,ENST00000461374,;KIAA1671,upstream_gene_variant,,ENST00000494730,; A ENSG00000197077 ENST00000358431 Transcript missense_variant 2841/10490 2815/5421 939/1806 A/T Gcc/Acc COSV64447593 1 NA 1 KIAA1671 HGNC HGNC:29345 protein_coding YES CCDS46676.1 ENSP00000351207 Q9BY89.123 UPI00002073DC NM_001145206.1 tolerated(0.16) benign(0.007) 3/11 PANTHER:PTHR22042,PANTHER:PTHR22042:SF3 NA NA NA NA NA NA NA NA NA 1 NA NA NA NA MODERATE 1 SNV 1 NA 1 NA NA . CGC . 1262.6 NA NA NA NA NA NA NA NA NA 25039945 KIAA1671 85379 . GRCh38 chr22 25040937 25040937 + Silent SNP T T C rs1040421 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3807T>C p.Asn1269= p.N1269= ENST00000358431 3/11 NA NA NA NA NA NA KIAA1671,synonymous_variant,p.Asn1269=,ENST00000358431,NM_001145206.1;KIAA1671,synonymous_variant,p.Asn1269=,ENST00000406486,;KIAA1671,non_coding_transcript_exon_variant,,ENST00000494730,;KIAA1671,upstream_gene_variant,,ENST00000461374,; C ENSG00000197077 ENST00000358431 Transcript synonymous_variant 3833/10490 3807/5421 1269/1806 N aaT/aaC rs1040421 1 NA 1 KIAA1671 HGNC HGNC:29345 protein_coding YES CCDS46676.1 ENSP00000351207 Q9BY89.123 UPI00002073DC NM_001145206.1 3/11 PANTHER:PTHR22042,PANTHER:PTHR22042:SF3 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . ATC . 2406.6 NA NA NA NA NA NA NA NA NA 25040937 MN1 4330 . GRCh38 chr22 27798945 27798946 + In_Frame_Ins INS - - TGC rs34890218 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1596_1598dup p.Gln550dup p.Q550dup ENST00000302326 1/2 NA NA NA NA NA NA MN1,inframe_insertion,p.Gln550dup,ENST00000302326,NM_002430.3;MN1,upstream_gene_variant,,ENST00000424656,;,regulatory_region_variant,,ENSR00000144830,; TGC ENSG00000169184 ENST00000302326 Transcript inframe_insertion 2811-2812/7814 1598-1599/3963 533/1320 Q/QQ caa/caGCAa rs34890218,COSV56555814 1 NA -1 MN1 HGNC HGNC:7180 protein_coding YES CCDS42998.1 ENSP00000304956 Q10571.149 A0A024R1C3.34 UPI0000207445 NM_002430.3 1/2 Coiled-coils_(Ncoils):Coil,PANTHER:PTHR15821,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA 0.0393 0.1196 NA 0.0774 0.1789 0.0552 0.05578 0.1507 0,1 NA NA NA NA MODERATE 1 insertion 1 NA 0,1 NA 1 . GTT . 2074.64 NA NA NA NA NA NA NA NA NA 27798945 TTC28 23331 . GRCh38 chr22 27982410 27982410 + Silent SNP C C T rs375923559 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.7257G>A p.Gln2419= p.Q2419= ENST00000397906 23/23 NA NA NA NA NA NA TTC28,synonymous_variant,p.Gln2419=,ENST00000397906,NM_001145418.1;TTC28,synonymous_variant,p.Gln2292=,ENST00000612946,;TTC28,downstream_gene_variant,,ENST00000431039,;TTC28-AS1,intron_variant,,ENST00000417497,;TTC28-AS1,intron_variant,,ENST00000419253,;TTC28-AS1,intron_variant,,ENST00000424161,;TTC28-AS1,intron_variant,,ENST00000425112,;TTC28-AS1,intron_variant,,ENST00000430853,;TTC28-AS1,intron_variant,,ENST00000434221,;TTC28-AS1,intron_variant,,ENST00000435348,;TTC28-AS1,intron_variant,,ENST00000452612,;TTC28-AS1,intron_variant,,ENST00000453632,;TTC28-AS1,intron_variant,,ENST00000454741,;TTC28-AS1,intron_variant,,ENST00000454996,;TTC28-AS1,intron_variant,,ENST00000654619,;TTC28-AS1,intron_variant,,ENST00000655332,;TTC28-AS1,intron_variant,,ENST00000659843,;TTC28-AS1,intron_variant,,ENST00000662424,;TTC28-AS1,intron_variant,,ENST00000662682,;TTC28-AS1,intron_variant,,ENST00000664946,;TTC28-AS1,intron_variant,,ENST00000665376,;TTC28-AS1,intron_variant,,ENST00000665505,;TTC28-AS1,intron_variant,,ENST00000669227,;TTC28,downstream_gene_variant,,ENST00000480563,; T ENSG00000100154 ENST00000397906 Transcript synonymous_variant 7399/11795 7257/7446 2419/2481 Q caG/caA rs375923559 1 NA -1 TTC28 HGNC HGNC:29179 protein_coding YES CCDS46678.1 ENSP00000381003 Q96AY4.179 UPI00003E58F8 NM_001145418.1 23/23 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . GCT . 3657.6 6.391e-06 0.0001264 NA NA NA NA NA NA NA 27982410 NEFH 4744 . GRCh38 chr22 29489578 29489579 + In_Frame_Ins INS - - AAGTCCCCTGAGAAGGCC rs147489453 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1947_1964dup p.Ala652_Lys657dup p.A652_K657dup ENST00000310624 4/4 NA NA NA NA NA NA NEFH,inframe_insertion,p.Ala652_Lys657dup,ENST00000310624,NM_021076.4;,regulatory_region_variant,,ENSR00000669628,; AAGTCCCCTGAGAAGGCC ENSG00000100285 ENST00000310624 Transcript inframe_insertion 1983-1984/3795 1938-1939/3063 646-647/1020 -/KSPEKA -/AAGTCCCCTGAGAAGGCC rs147489453 1 NA 1 NEFH HGNC HGNC:7737 protein_coding YES CCDS13858.1 ENSP00000311997 P12036.194 UPI00001AEF71 NM_021076.4 4/4 Pfam:PF07142,PANTHER:PTHR23214,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA 0.6604 0.6115 benign 30180840 NA NA NA NA MODERATE 1 insertion 1 26 1 NA 1 . CAA . 5815.64 NA NA NA NA NA NA NA NA NA 29489578 SELENOM 140606 . GRCh38 chr22 31105042 31105042 + Silent SNP C C T rs1300269255 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.366G>A p.Ala122= p.A122= ENST00000402395 7/7 NA NA NA NA NA NA SELENOM,synonymous_variant,p.Ala122=,ENST00000402395,;SELENOM,synonymous_variant,p.Ala122=,ENST00000400299,NM_080430.4;SELENOM,synonymous_variant,p.Ala121=,ENST00000611680,;SMTN,downstream_gene_variant,,ENST00000333137,NM_001382639.1,NM_001382642.1,NM_001382645.1,NM_001382641.1,NM_001382647.1,NM_001382643.1,NM_001382638.1,NM_001382640.1,NM_001382644.1,NM_134269.3,NM_001382646.1;SMTN,downstream_gene_variant,,ENST00000347557,NM_006932.5;SMTN,downstream_gene_variant,,ENST00000358743,NM_134270.3;SMTN,downstream_gene_variant,,ENST00000404574,;SMTN,downstream_gene_variant,,ENST00000612341,NM_001207018.1;SMTN,downstream_gene_variant,,ENST00000619644,NM_001207017.1;SMTN,downstream_gene_variant,,ENST00000624247,NM_001382648.1;SELENOM,non_coding_transcript_exon_variant,,ENST00000465536,;SELENOM,non_coding_transcript_exon_variant,,ENST00000491958,;SELENOM,non_coding_transcript_exon_variant,,ENST00000460642,;SELENOM,non_coding_transcript_exon_variant,,ENST00000490967,;SELENOM,non_coding_transcript_exon_variant,,ENST00000495533,;SMTN,downstream_gene_variant,,ENST00000460658,;SELENOM,downstream_gene_variant,,ENST00000465447,;SELENOM,downstream_gene_variant,,ENST00000469262,;SMTN,downstream_gene_variant,,ENST00000472911,;SMTN,downstream_gene_variant,,ENST00000489337,;SMTN,downstream_gene_variant,,ENST00000493335,;SMTN,downstream_gene_variant,,ENST00000504335,;,regulatory_region_variant,,ENSR00000145315,;,regulatory_region_variant,,ENSR00000670060,;,TF_binding_site_variant,,ENSM00526005953,;,TF_binding_site_variant,,ENSM00202858110,;,TF_binding_site_variant,,ENSM00522638088,;,TF_binding_site_variant,,ENSM00524816407,; T ENSG00000198832 ENST00000402395 Transcript synonymous_variant 784/1054 366/438 122/145 A gcG/gcA rs1300269255,COSV100294935 1 NA -1 SELENOM HGNC HGNC:30397 protein_coding YES CCDS43003.1 ENSP00000384564 Q8WWX9.134 UPI000016788A 7/7 Gene3D:3.40.30.50,PANTHER:PTHR13077,PANTHER:PTHR13077:SF7,Superfamily:SSF52833 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA LOW 1 SNV 1 NA 0,1 NA NA . GCG . 6592.6 4.134e-06 NA 2.958e-05 NA NA NA NA NA NA 31105042 LIMK2 3985 . GRCh38 chr22 31258394 31258394 + Frame_Shift_Del DEL G G - novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.159del p.Cys54AlafsTer4 p.C54Afs*4 ENST00000340552 2/15 NA NA NA NA NA NA LIMK2,frameshift_variant,p.Cys75AlafsTer4,ENST00000331728,NM_005569.4;LIMK2,frameshift_variant,p.Cys54AlafsTer4,ENST00000333611,NM_016733.3;LIMK2,frameshift_variant,p.Cys54AlafsTer4,ENST00000340552,NM_001031801.2;LIMK2,frameshift_variant,p.Cys54AlafsTer4,ENST00000425203,;LIMK2,5_prime_UTR_variant,,ENST00000406516,;LIMK2,non_coding_transcript_exon_variant,,ENST00000462625,;LIMK2,upstream_gene_variant,,ENST00000465937,; - ENSG00000182541 ENST00000340552 Transcript frameshift_variant 387/2789 157/2061 53/686 G/X Ggg/gg 1 NA 1 LIMK2 HGNC HGNC:6614 protein_coding YES CCDS33637.1 ENSP00000339916 P53671.201 UPI0000169F37 NM_001031801.2 2/15 PROSITE_profiles:PS50023,CDD:cd09465,PANTHER:PTHR46485,PANTHER:PTHR46485:SF1,PROSITE_patterns:PS00478,Gene3D:2.10.110.10,Pfam:PF00412,SMART:SM00132,Superfamily:SSF57716 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 2 NA NA . ATGG . 5879.6 NA NA NA NA NA NA NA NA NA 31258393 LARGE1 9215 . GRCh38 chr22 33650597 33650597 + Missense_Mutation SNP G G A rs142135345 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.178C>T p.Arg60Trp p.R60W ENST00000397394 3/15 NA NA NA NA NA NA LARGE1,missense_variant,p.Arg60Trp,ENST00000610186,;LARGE1,missense_variant,p.Arg60Trp,ENST00000608642,;LARGE1,missense_variant,p.Arg60Trp,ENST00000609799,;LARGE1,missense_variant,p.Arg60Trp,ENST00000397394,NM_133642.5,NM_001378626.1;LARGE1,missense_variant,p.Arg60Trp,ENST00000354992,NM_004737.7;LARGE1,missense_variant,p.Arg60Trp,ENST00000413114,NM_001362949.2,NM_001378625.1;LARGE1,missense_variant,p.Arg60Trp,ENST00000402320,NM_001378629.1;LARGE1,missense_variant,p.Arg60Trp,ENST00000676070,NM_001362953.2;LARGE1,missense_variant,p.Arg60Trp,ENST00000675416,;LARGE1,missense_variant,p.Arg60Trp,ENST00000676370,NM_001362951.2,NM_001378624.1;LARGE1,missense_variant,p.Arg60Trp,ENST00000676132,;LARGE1,missense_variant,p.Arg60Trp,ENST00000674668,;LARGE1,missense_variant,p.Arg60Trp,ENST00000676126,;LARGE1,missense_variant,p.Arg60Trp,ENST00000674789,NM_001378627.1,NM_001378628.1;LARGE1,missense_variant,p.Arg60Trp,ENST00000423375,;LARGE1,missense_variant,p.Arg60Trp,ENST00000432776,;LARGE1,missense_variant,p.Arg60Trp,ENST00000434071,;LARGE1,missense_variant,p.Arg60Trp,ENST00000430220,;LARGE1,missense_variant,p.Arg60Trp,ENST00000476315,;LARGE1,5_prime_UTR_variant,,ENST00000674999,;LARGE1,5_prime_UTR_variant,,ENST00000675277,;LARGE1,missense_variant,p.Arg60Trp,ENST00000674543,;LARGE1,missense_variant,p.Arg60Trp,ENST00000676031,;LARGE1,missense_variant,p.Arg60Trp,ENST00000675382,; A ENSG00000133424 ENST00000397394 Transcript missense_variant 742/4753 178/2271 60/756 R/W Cgg/Tgg rs142135345 1 NA -1 LARGE1 HGNC HGNC:6511 protein_coding YES CCDS13912.1 ENSP00000380549 O95461.170 X5DR28.56 UPI000012E200 NM_133642.5,NM_001378626.1 tolerated_low_confidence(0.18) benign(0.183) 3/15 Low_complexity_(Seg):seg,MobiDB_lite:mobidb-lite,Coiled-coils_(Ncoils):Coil NA NA NA NA NA NA NA NA 0.000466 uncertain_significance NA NA NA NA MODERATE 1 SNV 5 NA 1 NA 1 . CGC . 2071.6 0.0002078 0.0001944 8.697e-05 NA NA 0.0001267 0.0003812 NA NA 33650597 RBFOX2 23543 . GRCh38 chr22 35768290 35768290 + Silent SNP T T C NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.723A>G p.Leu241= p.L241= ENST00000438146 6/14 NA NA NA NA NA NA RBFOX2,synonymous_variant,p.Leu241=,ENST00000438146,NM_001349995.2,NM_001349990.2,NM_001349992.2,NM_001349989.2,NM_001082579.3,NM_001349996.2,NM_001349999.2,NM_001082578.4;RBFOX2,synonymous_variant,p.Leu171=,ENST00000405409,NM_001349994.2,NM_014309.4;RBFOX2,synonymous_variant,p.Leu170=,ENST00000449924,NM_001031695.4,NM_001349998.2,NM_001349997.2;RBFOX2,synonymous_variant,p.Leu170=,ENST00000414461,NM_001082577.3;RBFOX2,synonymous_variant,p.Leu152=,ENST00000262829,;RBFOX2,synonymous_variant,p.Leu150=,ENST00000359369,NM_001349982.2,NM_001349991.2,NM_001349983.2;RBFOX2,synonymous_variant,p.Leu151=,ENST00000397303,;RBFOX2,synonymous_variant,p.Leu170=,ENST00000416721,NM_001082576.3;RBFOX2,synonymous_variant,p.Leu150=,ENST00000473487,;RBFOX2,synonymous_variant,p.Leu23=,ENST00000495377,;RBFOX2,synonymous_variant,p.Leu193=,ENST00000408983,; C ENSG00000100320 ENST00000438146 Transcript synonymous_variant 1122/7224 723/1356 241/451 L ttA/ttG COSV53262756 1 NA -1 RBFOX2 HGNC HGNC:9906 protein_coding YES CCDS43013.1 ENSP00000413035 O43251.192 UPI00015DF7D4 NM_001349995.2,NM_001349990.2,NM_001349992.2,NM_001349989.2,NM_001082579.3,NM_001349996.2,NM_001349999.2,NM_001082578.4 6/14 PROSITE_profiles:PS50102,CDD:cd12407,PANTHER:PTHR15597:SF31,PANTHER:PTHR15597,PIRSF:PIRSF037932,Gene3D:3.30.70.330,Pfam:PF00076,SMART:SM00360,Superfamily:SSF54928 NA NA NA NA NA NA NA NA NA 1 NA NA NA NA LOW 1 SNV 1 NA 1 NA NA . GTA . 32.6 NA NA NA NA NA NA NA NA NA 35768290 CARD10 29775 . GRCh38 chr22 37518018 37518018 + Missense_Mutation SNP G G A rs752095306 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.326C>T p.Thr109Met p.T109M ENST00000403299 3/21 NA NA NA NA NA NA CARD10,missense_variant,p.Thr109Met,ENST00000403299,;CARD10,missense_variant,p.Thr109Met,ENST00000251973,NM_014550.4;CARD10,upstream_gene_variant,,ENST00000494166,;,regulatory_region_variant,,ENSR00000146016,; A ENSG00000100065 ENST00000403299 Transcript missense_variant 543/4113 326/3099 109/1032 T/M aCg/aTg rs752095306,COSV52654301 1 NA -1 CARD10 HGNC HGNC:16422 protein_coding YES CCDS13948.1 ENSP00000384570 Q9BWT7.159 UPI0000044645 deleterious(0.01) probably_damaging(0.999) 3/21 PROSITE_profiles:PS50209,CDD:cd08807,PANTHER:PTHR14559,PANTHER:PTHR14559:SF12,Pfam:PF00619,Gene3D:1.10.533.10,Superfamily:SSF47986 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 5 NA 0,1 NA NA . CGT . 5475.6 0.0001035 NA 0.0001446 NA NA NA 0.0001761 0.0001631 NA 37518018 EIF3L 51386 . GRCh38 chr22 37851429 37851429 + Missense_Mutation SNP C C T rs1389427027 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.361C>T p.Arg121Cys p.R121C ENST00000412331 3/13 NA NA NA NA NA NA EIF3L,missense_variant,p.Arg121Cys,ENST00000412331,;EIF3L,missense_variant,p.Arg78Cys,ENST00000652021,NM_016091.4;EIF3L,missense_variant,p.Arg78Cys,ENST00000624234,;EIF3L,missense_variant,p.Arg78Cys,ENST00000381683,NM_001242923.2;EIF3L,missense_variant,p.Arg54Cys,ENST00000451427,;EIF3L,missense_variant,p.Arg95Cys,ENST00000414316,;EIF3L,synonymous_variant,p.Val6=,ENST00000406934,NM_001363785.2;ANKRD54,upstream_gene_variant,,ENST00000609454,;MIR659,upstream_gene_variant,,ENST00000384963,;EIF3L,non_coding_transcript_exon_variant,,ENST00000476955,;ANKRD54,upstream_gene_variant,,ENST00000609706,;EIF3L,missense_variant,p.Arg91Cys,ENST00000439997,;EIF3L,3_prime_UTR_variant,,ENST00000436452,;EIF3L,non_coding_transcript_exon_variant,,ENST00000477256,; T ENSG00000100129 ENST00000412331 Transcript missense_variant 814/3220 361/1824 121/607 R/C Cgt/Tgt rs1389427027 1 NA 1 EIF3L HGNC HGNC:18138 protein_coding YES ENSP00000416892 B0QY89.99 UPI000021D183 deleterious_low_confidence(0) probably_damaging(0.973) 3/13 HAMAP:MF_03011,PANTHER:PTHR13242 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . TCG . 3996.6 3.978e-06 NA NA NA NA NA 8.796e-06 NA NA 37851429 SUN2 25777 . GRCh38 chr22 38749811 38749811 + Missense_Mutation SNP C C T rs149088273 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.632G>A p.Arg211His p.R211H ENST00000405018 6/18 NA NA NA NA NA NA SUN2,missense_variant,p.Arg190His,ENST00000405510,NM_015374.3,NM_001199580.2;SUN2,missense_variant,p.Arg211His,ENST00000405018,NM_001199579.2;SUN2,missense_variant,p.Arg190His,ENST00000406622,;SUN2,missense_variant,p.Arg190His,ENST00000456894,;SUN2,missense_variant,p.Arg144His,ENST00000438058,;SUN2,missense_variant,p.Arg47His,ENST00000430185,;SUN2,downstream_gene_variant,,ENST00000417332,;SUN2,downstream_gene_variant,,ENST00000420859,;SUN2,downstream_gene_variant,,ENST00000433561,;SUN2,downstream_gene_variant,,ENST00000439339,;SUN2,downstream_gene_variant,,ENST00000452294,;AL021707.1,downstream_gene_variant,,ENST00000416406,;SUN2,non_coding_transcript_exon_variant,,ENST00000480307,;SUN2,downstream_gene_variant,,ENST00000494273,; T ENSG00000100242 ENST00000405018 Transcript missense_variant 906/4022 632/2217 211/738 R/H cGc/cAc rs149088273 1 NA -1 SUN2 HGNC HGNC:14210 protein_coding YES CCDS56231.1 ENSP00000385616 Q9UH99.185 UPI0001611146 NM_001199579.2 tolerated(0.06) probably_damaging(0.964) 6/18 PANTHER:PTHR12911:SF22,PANTHER:PTHR12911 2e-04 NA NA NA 0.001 NA NA NA 0.0001163 NA NA NA NA MODERATE 1 SNV 1 NA NA NA . GCG . 3485.6 3.993e-05 NA 8.69e-05 NA 0.0003808 NA NA NA NA 38749811 APOBEC3A 200315 . GRCh38 chr22 38961643 38961643 + Missense_Mutation SNP G G A rs756267400 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.431G>A p.Arg144Gln p.R144Q ENST00000402255 4/6 NA NA NA NA NA NA APOBEC3A,missense_variant,p.Arg144Gln,ENST00000402255,;APOBEC3A,missense_variant,p.Arg144Gln,ENST00000249116,NM_145699.4,NM_001270406.2;APOBEC3A,missense_variant,p.Arg144Gln,ENST00000618553,;APOBEC3A,downstream_gene_variant,,ENST00000488758,; A ENSG00000128383 ENST00000402255 Transcript missense_variant 635/1478 431/600 144/199 R/Q cGg/cAg rs756267400,COSV99970296 1 NA 1 APOBEC3A HGNC HGNC:17343 protein_coding YES CCDS13981.1 ENSP00000384359 P31941.174 A0A0K0MJ49.36 UPI00001318F4 tolerated(1) benign(0.01) 4/6 PDB-ENSP_mappings:2m65.A,PDB-ENSP_mappings:4xxo.A,PDB-ENSP_mappings:4xxo.B,PDB-ENSP_mappings:5keg.A,PDB-ENSP_mappings:5sww.A,PDB-ENSP_mappings:5sww.B,PDB-ENSP_mappings:5sww.C,PDB-ENSP_mappings:5sww.D,PANTHER:PTHR13857:SF39,PANTHER:PTHR13857,Pfam:PF18782,Gene3D:3.40.140.10,Superfamily:SSF53927 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 5 NA 0,1 NA NA . CGG . 9100.6 5.648e-05 NA NA NA NA NA 3.118e-05 NA 0.0003766 38961643 PDGFB 5155 . GRCh38 chr22 39231705 39231705 + Missense_Mutation SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.373G>A p.Val125Met p.V125M ENST00000331163 4/7 NA NA NA NA NA NA PDGFB,missense_variant,p.Val125Met,ENST00000331163,NM_002608.4;PDGFB,missense_variant,p.Val110Met,ENST00000381551,NM_033016.3;PDGFB,missense_variant,p.Val94Met,ENST00000440375,;PDGFB,missense_variant,p.Val94Met,ENST00000455790,; T ENSG00000100311 ENST00000331163 Transcript missense_variant 1392/3728 373/726 125/241 V/M Gtg/Atg 1 NA -1 PDGFB HGNC HGNC:8800 protein_coding YES CCDS13987.1 ENSP00000330382 P01127.234 A0A384NYY3.9 UPI000004110E NM_002608.4 deleterious(0) probably_damaging(1) 4/7 PDB-ENSP_mappings:1pdg.A,PDB-ENSP_mappings:1pdg.B,PDB-ENSP_mappings:1pdg.C,PDB-ENSP_mappings:3mjg.A,PDB-ENSP_mappings:3mjg.B,PDB-ENSP_mappings:4hqu.A,PDB-ENSP_mappings:4hqx.A,PDB-ENSP_mappings:4qci.C,PDB-ENSP_mappings:4qci.D,PROSITE_profiles:PS50278,CDD:cd00135,PANTHER:PTHR11633:SF2,PANTHER:PTHR11633,PROSITE_patterns:PS00249,Gene3D:2.10.90.10,Pfam:PF00341,SMART:SM00141,Superfamily:SSF57501 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . ACA . 6491.6 NA NA NA NA NA NA NA NA NA 39231705 TNRC6B 23112 . GRCh38 chr22 40264970 40264970 + Missense_Mutation SNP C C T rs771941379 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.740C>T p.Ser247Phe p.S247F ENST00000454349 5/23 NA NA NA NA NA NA TNRC6B,missense_variant,p.Ser247Phe,ENST00000454349,NM_001162501.2;TNRC6B,missense_variant,p.Ser247Phe,ENST00000335727,NM_015088.3;TNRC6B,intron_variant,,ENST00000301923,NM_001024843.1;TNRC6B,intron_variant,,ENST00000402203,;TNRC6B,upstream_gene_variant,,ENST00000446273,;,regulatory_region_variant,,ENSR00000672512,; T ENSG00000100354 ENST00000454349 Transcript missense_variant 951/18280 740/5502 247/1833 S/F tCt/tTt rs771941379 1 NA 1 TNRC6B HGNC HGNC:29190 protein_coding YES CCDS54533.1 ENSP00000401946 Q9UPQ9.169 UPI00017A6F19 NM_001162501.2 tolerated(0.5) benign(0.062) 5/23 PANTHER:PTHR13020,PANTHER:PTHR13020:SF32,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 2 NA NA NA . TCT . 2545.6 4.016e-06 NA NA NA NA NA 8.859e-06 NA NA 40264970 TNRC6B 23112 . GRCh38 chr22 40316002 40316002 + Missense_Mutation SNP T T G novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4964T>G p.Leu1655Arg p.L1655R ENST00000454349 21/23 NA NA NA NA NA NA TNRC6B,missense_variant,p.Leu1655Arg,ENST00000454349,NM_001162501.2;TNRC6B,missense_variant,p.Leu1545Arg,ENST00000335727,NM_015088.3;TNRC6B,missense_variant,p.Leu851Arg,ENST00000301923,NM_001024843.1;TNRC6B,missense_variant,p.Leu1341Arg,ENST00000446273,;TNRC6B,missense_variant,p.Leu851Arg,ENST00000402203,; G ENSG00000100354 ENST00000454349 Transcript missense_variant 5175/18280 4964/5502 1655/1833 L/R cTc/cGc 1 NA 1 TNRC6B HGNC HGNC:29190 protein_coding YES CCDS54533.1 ENSP00000401946 Q9UPQ9.169 UPI00017A6F19 NM_001162501.2 deleterious(0) probably_damaging(0.993) 21/23 Gene3D:3.30.70.330,PANTHER:PTHR13020,PANTHER:PTHR13020:SF32,Superfamily:SSF54928,CDD:cd12712 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 2 NA NA NA . CTC . 2527.6 NA NA NA NA NA NA NA NA NA 40316002 MRTFA 57591 . GRCh38 chr22 40420537 40420538 + Frame_Shift_Ins INS - - G rs34028511 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1220dup p.Val408SerfsTer9 p.V408Sfs*9 ENST00000355630 11/15 NA NA NA NA NA NA MRTFA,frameshift_variant,p.Val408SerfsTer9,ENST00000355630,NM_020831.6;MRTFA,frameshift_variant,p.Val408SerfsTer9,ENST00000651595,NM_001282662.3;MRTFA,frameshift_variant,p.Val308SerfsTer9,ENST00000396617,;MRTFA,frameshift_variant,p.Val358SerfsTer9,ENST00000402042,NM_001282661.3;MRTFA,frameshift_variant,p.Val343SerfsTer9,ENST00000652095,NM_001318139.2;MRTFA,frameshift_variant,p.Val308SerfsTer9,ENST00000407029,NM_001282660.2;MRTFA,frameshift_variant,p.Val309SerfsTer9,ENST00000614754,;MRTFA,frameshift_variant,p.Val259SerfsTer9,ENST00000620651,;MRTFA,intron_variant,,ENST00000618417,;MRTFA,upstream_gene_variant,,ENST00000477468,; G ENSG00000196588 ENST00000355630 Transcript frameshift_variant 1545-1546/4522 1220-1221/3096 407/1031 P/PX cca/ccCa rs34028511 1 NA -1 MRTFA HGNC HGNC:14334 protein_coding YES ENSP00000347847 A0A499FIJ6.6 UPI000EA833A5 NM_020831.6 11/15 PANTHER:PTHR22793,PANTHER:PTHR22793:SF6,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 insertion 1 NA NA 1 . CTG . 3582.64 1.204e-05 NA NA NA NA NA 2.668e-05 NA NA 40420537 RANGAP1 5905 . GRCh38 chr22 41254342 41254342 + Missense_Mutation SNP G G A rs140617608 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1226C>T p.Thr409Met p.T409M ENST00000455915 10/15 NA NA NA NA NA NA RANGAP1,missense_variant,p.Thr409Met,ENST00000455915,;RANGAP1,missense_variant,p.Thr409Met,ENST00000356244,NM_001317930.2,NM_002883.4;RANGAP1,missense_variant,p.Thr409Met,ENST00000405486,NM_001278651.2;RANGAP1,downstream_gene_variant,,ENST00000446258,;MIR6889,upstream_gene_variant,,ENST00000613185,; A ENSG00000100401 ENST00000455915 Transcript missense_variant 2696/4222 1226/1764 409/587 T/M aCg/aTg rs140617608 1 NA -1 RANGAP1 HGNC HGNC:9854 protein_coding YES CCDS14012.1 ENSP00000401470 P46060.217 A0A024R1U0.52 UPI0000000DD9 deleterious(0.04) benign(0.024) 10/15 PANTHER:PTHR24113,PANTHER:PTHR24113:SF6,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA 0.000227 NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CGT . 3652.6 3.213e-05 0.000123 NA NA NA NA 5.389e-05 NA NA 41254342 SREBF2 6721 . GRCh38 chr22 41903150 41903150 + Missense_Mutation SNP C C T rs761111632 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3088C>T p.Arg1030Cys p.R1030C ENST00000361204 17/19 NA NA NA NA NA NA SREBF2,missense_variant,p.Arg1030Cys,ENST00000361204,NM_004599.4;SREBF2,missense_variant,p.Arg153Cys,ENST00000435061,;SREBF2,3_prime_UTR_variant,,ENST00000612482,;MIR33A,downstream_gene_variant,,ENST00000385197,;SREBF2,non_coding_transcript_exon_variant,,ENST00000491541,;SREBF2,3_prime_UTR_variant,,ENST00000424354,;SREBF2,downstream_gene_variant,,ENST00000463741,;SREBF2,downstream_gene_variant,,ENST00000490262,; T ENSG00000198911 ENST00000361204 Transcript missense_variant 3254/5237 3088/3426 1030/1141 R/C Cgc/Tgc rs761111632,COSV63330321 1 NA 1 SREBF2 HGNC HGNC:11290 protein_coding YES CCDS14023.1 ENSP00000354476 Q12772.204 A0A024R1Q0.52 UPI00001678D0 NM_004599.4 tolerated(0.09) benign(0.003) 17/19 PANTHER:PTHR46062,PANTHER:PTHR46062:SF3 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 1 NA 0,1 NA NA . CCG . 3463.6 1.306e-05 NA NA NA 8.876e-05 NA NA NA 4.354e-05 41903150 WBP2NL 164684 . GRCh38 chr22 42027039 42027039 + Missense_Mutation SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.788C>T p.Pro263Leu p.P263L ENST00000328823 6/6 NA NA NA NA NA NA WBP2NL,missense_variant,p.Pro263Leu,ENST00000328823,NM_152613.3;WBP2NL,missense_variant,p.Pro189Leu,ENST00000543212,;WBP2NL,non_coding_transcript_exon_variant,,ENST00000475341,;WBP2NL,upstream_gene_variant,,ENST00000487176,;WBP2NL,missense_variant,p.Pro263Leu,ENST00000329620,;WBP2NL,missense_variant,p.Pro227Leu,ENST00000412113,;WBP2NL,missense_variant,p.Pro263Leu,ENST00000436265,;WBP2NL,downstream_gene_variant,,ENST00000445185,;WBP2NL,upstream_gene_variant,,ENST00000470812,; T ENSG00000183066 ENST00000328823 Transcript missense_variant 819/2255 788/930 263/309 P/L cCt/cTt 1 NA 1 WBP2NL HGNC HGNC:28389 protein_coding YES CCDS14029.1 ENSP00000332983 Q6ICG8.115 UPI00001AF89A NM_152613.3 deleterious(0.01) benign(0.021) 6/6 PANTHER:PTHR31606,PANTHER:PTHR31606:SF2,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CCT . 2795.6 NA NA NA NA NA NA NA NA NA 42027039 CYP2D7 0 . GRCh38 chr22 42141208 42141208 + Missense_Mutation SNP C C T rs2856959 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1171G>A p.Gly391Ser p.G391S ENST00000612115 9/11 NA NA NA NA NA NA CYP2D7,missense_variant,p.Gly391Ser,ENST00000612115,NM_001348386.3;CYP2D7,missense_variant,p.Gly322Ser,ENST00000614967,;AC254562.2,upstream_gene_variant,,ENST00000428786,;NDUFA6-DT,downstream_gene_variant,,ENST00000439129,;NDUFA6-DT,downstream_gene_variant,,ENST00000621190,;AC254562.3,downstream_gene_variant,,ENST00000626627,;CYP2D7,downstream_gene_variant,,ENST00000424775,;CYP2D7,3_prime_UTR_variant,,ENST00000435101,;CYP2D7,non_coding_transcript_exon_variant,,ENST00000651010,;CYP2D7,downstream_gene_variant,,ENST00000435688,;CYP2D7,downstream_gene_variant,,ENST00000610593,;CYP2D7,missense_variant,p.Gly392Glu,ENST00000433992,;CYP2D7,missense_variant,p.Gly373Glu,ENST00000358097,; T ENSG00000205702 ENST00000612115 Transcript missense_variant 1284/1734 1171/1548 391/515 G/S Ggt/Agt rs2856959 1 NA -1 CYP2D7 HGNC HGNC:2624 protein_coding YES ENSP00000484065 A0A087X1C5.37 UPI0004E4CB9D NM_001348386.3 tolerated(0.21) benign(0.111) 9/11 Gene3D:1.10.630.10,Pfam:PF00067,Prints:PR00463,PANTHER:PTHR24300,PANTHER:PTHR24300:SF109,Superfamily:SSF48264 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE NA SNV 5 NA NA NA . CCC . 22295.03 NA NA NA NA NA NA NA NA NA 42141208 CYP2D7 0 . GRCh38 chr22 42141231 42141231 + Missense_Mutation SNP T T C rs56127449 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1148A>G p.His383Arg p.H383R ENST00000612115 9/11 NA NA NA NA NA NA CYP2D7,missense_variant,p.His383Arg,ENST00000612115,NM_001348386.3;CYP2D7,missense_variant,p.His314Arg,ENST00000614967,;AC254562.2,upstream_gene_variant,,ENST00000428786,;NDUFA6-DT,downstream_gene_variant,,ENST00000439129,;NDUFA6-DT,downstream_gene_variant,,ENST00000621190,;AC254562.3,downstream_gene_variant,,ENST00000626627,;CYP2D7,downstream_gene_variant,,ENST00000424775,;CYP2D7,3_prime_UTR_variant,,ENST00000435101,;CYP2D7,non_coding_transcript_exon_variant,,ENST00000651010,;CYP2D7,downstream_gene_variant,,ENST00000435688,;CYP2D7,downstream_gene_variant,,ENST00000610593,;CYP2D7,synonymous_variant,p.Ala384=,ENST00000433992,;CYP2D7,synonymous_variant,p.Ala365=,ENST00000358097,; C ENSG00000205702 ENST00000612115 Transcript missense_variant 1261/1734 1148/1548 383/515 H/R cAc/cGc rs56127449 1 NA -1 CYP2D7 HGNC HGNC:2624 protein_coding YES ENSP00000484065 A0A087X1C5.37 UPI0004E4CB9D NM_001348386.3 tolerated(1) benign(0) 9/11 Gene3D:1.10.630.10,Pfam:PF00067,Prints:PR00385,Prints:PR00463,PANTHER:PTHR24300,PANTHER:PTHR24300:SF109,Superfamily:SSF48264 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE NA SNV 5 NA NA NA . GTG . 24784.03 NA NA NA NA NA NA NA NA NA 42141231 SCUBE1 80274 . GRCh38 chr22 43210071 43210071 + Silent SNP G G A rs373798273 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2553C>T p.Cys851= p.C851= ENST00000360835 19/22 NA NA NA NA NA NA SCUBE1,synonymous_variant,p.Cys851=,ENST00000360835,NM_173050.5;SCUBE1,intron_variant,,ENST00000615096,;SCUBE1-AS2,upstream_gene_variant,,ENST00000420269,; A ENSG00000159307 ENST00000360835 Transcript synonymous_variant 2664/9795 2553/2967 851/988 C tgC/tgT rs373798273 1 NA -1 SCUBE1 HGNC HGNC:13441 protein_coding YES CCDS14048.1 ENSP00000354080 Q8IWY4.137 UPI000020790F NM_173050.5 19/22 Gene3D:2.60.120.290,Pfam:PF00431,PROSITE_profiles:PS01180,PANTHER:PTHR24046,PANTHER:PTHR24046:SF4,SMART:SM00042,Superfamily:SSF49854,CDD:cd00041 NA NA NA NA NA NA NA NA 0.0001163 NA NA NA NA LOW 1 SNV 1 NA NA NA . CGC . 4386.6 2.009e-05 6.201e-05 NA NA NA NA 3.566e-05 NA NA 43210071 SCUBE1 80274 . GRCh38 chr22 43222730 43222730 + Missense_Mutation SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1340G>A p.Ser447Asn p.S447N ENST00000360835 12/22 NA NA NA NA NA NA SCUBE1,missense_variant,p.Ser447Asn,ENST00000360835,NM_173050.5;SCUBE1,intron_variant,,ENST00000615096,;,regulatory_region_variant,,ENSR00000673325,; T ENSG00000159307 ENST00000360835 Transcript missense_variant 1451/9795 1340/2967 447/988 S/N aGc/aAc 1 NA -1 SCUBE1 HGNC HGNC:13441 protein_coding YES CCDS14048.1 ENSP00000354080 Q8IWY4.137 UPI000020790F NM_173050.5 tolerated(0.06) possibly_damaging(0.544) 12/22 PANTHER:PTHR24046,PANTHER:PTHR24046:SF4 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . GCT . 1787.6 NA NA NA NA NA NA NA NA NA 43222730 WNT7B 7477 . GRCh38 chr22 45931250 45931250 + Missense_Mutation SNP A A G NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.430T>C p.Tyr144His p.Y144H ENST00000409496 3/4 NA NA NA NA NA NA WNT7B,missense_variant,p.Tyr140His,ENST00000339464,NM_058238.3;WNT7B,missense_variant,p.Tyr144His,ENST00000409496,;WNT7B,missense_variant,p.Tyr124His,ENST00000410089,;WNT7B,missense_variant,p.Tyr140His,ENST00000410058,;WNT7B,downstream_gene_variant,,ENST00000428540,; G ENSG00000188064 ENST00000409496 Transcript missense_variant 908/2285 430/1062 144/353 Y/H Tac/Cac COSV59752485 1 NA -1 WNT7B HGNC HGNC:12787 protein_coding YES ENSP00000386546 A8K0G1.101 UPI0000E0707E tolerated(0.53) possibly_damaging(0.447) 3/4 Pfam:PF00110,Prints:PR01891,PANTHER:PTHR12027,PANTHER:PTHR12027:SF109,SMART:SM00097 NA NA NA NA NA NA NA NA NA 1 NA NA NA NA MODERATE 1 SNV 2 NA 1 NA NA . TAG . 4435.6 NA NA NA NA NA NA NA NA NA 45931250 PKDREJ 10343 . GRCh38 chr22 46259270 46259270 + Silent SNP A A G novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4053T>C p.Arg1351= p.R1351= ENST00000253255 1/1 NA NA NA NA NA NA PKDREJ,synonymous_variant,p.Arg1351=,ENST00000253255,NM_006071.2;,regulatory_region_variant,,ENSR00000674260,; G ENSG00000130943 ENST00000253255 Transcript synonymous_variant 4074/7681 4053/6762 1351/2253 R cgT/cgC 1 NA -1 PKDREJ HGNC HGNC:9015 protein_coding YES CCDS14073.1 ENSP00000253255 Q9NTG1.151 UPI0000031D01 NM_006071.2 1/1 PANTHER:PTHR10877,PANTHER:PTHR10877:SF185 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV NA NA NA NA . GAC . 4700.6 NA NA NA NA NA NA NA NA NA 46259270 GTSE1 51512 . GRCh38 chr22 46316336 46316336 + Silent SNP A A T novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1356A>T p.Arg452= p.R452= ENST00000454366 7/12 NA NA NA NA NA NA GTSE1,synonymous_variant,p.Arg452=,ENST00000454366,NM_016426.7;GTSE1,non_coding_transcript_exon_variant,,ENST00000466510,;GTSE1,non_coding_transcript_exon_variant,,ENST00000479645,; T ENSG00000075218 ENST00000454366 Transcript synonymous_variant 1439/2983 1356/2220 452/739 R cgA/cgT 1 NA 1 GTSE1 HGNC HGNC:13698 protein_coding YES CCDS14074.2 ENSP00000415430 Q9NYZ3.157 UPI000021D19B NM_016426.7 7/12 PANTHER:PTHR21584,PANTHER:PTHR21584:SF10,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . GAG . 2903.6 NA NA NA NA NA NA NA NA NA 46316336 MLC1 23209 . GRCh38 chr22 50064040 50064041 + In_Frame_Ins INS - - GCACCCCCACCCCACAGGCCACTCACCTCCCCG rs745656804 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1052_1053insCGGGGAGGTGAGTGGCCTGTGGGGTGGGGGTGC p.Val354_Ala355insSerGlyLeuTrpGlyGlyGlyAlaGlyGluVal p.V354_A355insSGLWGGGAGEV ENST00000395876 11/12 NA NA NA NA NA NA MLC1,inframe_insertion,p.Val354_Ala355insSerGlyLeuTrpGlyGlyGlyAlaGlyGluVal,ENST00000395876,NM_001376474.1,NM_001376475.1,NM_001376476.1,NM_001376473.1,NM_001376483.1,NM_001376478.1,NM_139202.3,NM_001376477.1,NM_001376472.1;MLC1,inframe_insertion,p.Val354_Ala355insSerGlyLeuTrpGlyGlyGlyAlaGlyGluVal,ENST00000311597,NM_001376484.1,NM_001376480.1,NM_001376482.1,NM_001376481.1,NM_001376479.1,NM_015166.4;MLC1,non_coding_transcript_exon_variant,,ENST00000483836,; GCACCCCCACCCCACAGGCCACTCACCTCCCCG ENSG00000100427 ENST00000395876 Transcript inframe_insertion 1327-1328/3601 1052-1053/1134 351/377 A/AGEVSGLWGGGA gct/gcCGGGGAGGTGAGTGGCCTGTGGGGTGGGGGTGCt rs745656804 1 NA -1 MLC1 HGNC HGNC:17082 protein_coding YES CCDS14083.1 ENSP00000379216 Q15049.174 A0A024R4V4.35 UPI000004AD09 NM_001376474.1,NM_001376475.1,NM_001376476.1,NM_001376473.1,NM_001376483.1,NM_001376478.1,NM_139202.3,NM_001376477.1,NM_001376472.1 11/12 PANTHER:PTHR17597 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 insertion 1 NA NA 1 . CAG . 2421.64 NA NA NA NA NA NA NA NA NA 50064040 PLXNB2 23654 . GRCh38 chr22 50288868 50288868 + Missense_Mutation SNP A A G novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1255T>C p.Tyr419His p.Y419H ENST00000359337 5/37 NA NA NA NA NA NA PLXNB2,missense_variant,p.Tyr419His,ENST00000359337,NM_001376869.1,NM_001376885.1,NM_001376866.1,NM_012401.4,NM_001376868.1,NM_001376886.1,NM_001376867.1,NM_001376879.1,NM_001376882.1,NM_001376873.1,NM_001376877.1,NM_001376883.1,NM_001376870.1,NM_001376864.1,NM_001376874.1,NM_001376872.1,NM_001376881.1;PLXNB2,missense_variant,p.Tyr419His,ENST00000449103,NM_001376865.1,NM_001376884.1,NM_001376878.1,NM_001376871.1,NM_001376876.1,NM_001376875.1,NM_001376880.1;PLXNB2,missense_variant,p.Tyr419His,ENST00000432455,;PLXNB2,intron_variant,,ENST00000411680,;PLXNB2,downstream_gene_variant,,ENST00000425954,;PLXNB2,upstream_gene_variant,,ENST00000434732,;PLXNB2,upstream_gene_variant,,ENST00000496720,; G ENSG00000196576 ENST00000359337 Transcript missense_variant 1422/6409 1255/5517 419/1838 Y/H Tac/Cac 1 NA -1 PLXNB2 HGNC HGNC:9104 protein_coding YES CCDS43035.1 ENSP00000352288 O15031.171 UPI000003812D NM_001376869.1,NM_001376885.1,NM_001376866.1,NM_012401.4,NM_001376868.1,NM_001376886.1,NM_001376867.1,NM_001376879.1,NM_001376882.1,NM_001376873.1,NM_001376877.1,NM_001376883.1,NM_001376870.1,NM_001376864.1,NM_001376874.1,NM_001376872.1,NM_001376881.1 tolerated(0.66) benign(0.006) 5/37 PROSITE_profiles:PS51004,CDD:cd11276,PANTHER:PTHR22625,PANTHER:PTHR22625:SF9,Pfam:PF01403,Gene3D:2.130.10.10,SMART:SM00630,Superfamily:SSF101912 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . TAC . 8311.6 NA NA NA NA NA NA NA NA NA 50288868 SHANK3 85358 . GRCh38 chr22 50720948 50720949 + Frame_Shift_Ins INS - - C novel NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3099dup p.Gly1034ArgfsTer255 p.G1034Rfs*255 ENST00000445220 22/23 NA NA NA NA NA NA SHANK3,frameshift_variant,p.Gly908ArgfsTer255,ENST00000262795,;SHANK3,frameshift_variant,p.Gly422ArgfsTer255,ENST00000664402,;SHANK3,frameshift_variant,p.Gly1034ArgfsTer255,ENST00000445220,NM_001372044.2;SHANK3,non_coding_transcript_exon_variant,,ENST00000414786,;SHANK3,3_prime_UTR_variant,,ENST00000673971,; C ENSG00000251322 ENST00000445220 Transcript frameshift_variant 3094-3095/5175 3094-3095/5175 1032/1724 A/AX gcc/gCcc 1 NA 1 SHANK3 HGNC HGNC:14294 protein_coding YES ENSP00000489407 A0A0U1RR93.35 UPI00071AFB15 NM_001372044.2 22/23 PANTHER:PTHR24135,PANTHER:PTHR24135:SF4 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 insertion 5 5 NA 1 . CGC . 1550.64 NA NA NA NA NA NA NA NA NA 50720948 GTPBP6 8225 . GRCh38 chrX 318607 318607 + Missense_Mutation SNP C C G rs1348836510 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.181G>C p.Gly61Arg p.G61R ENST00000326153 1/10 NA NA NA NA NA NA GTPBP6,missense_variant,p.Gly61Arg,ENST00000326153,NM_012227.3;LINC00685,upstream_gene_variant,,ENST00000391707,;,regulatory_region_variant,,ENSR00001157101,;,TF_binding_site_variant,,ENSM00112861025,;,TF_binding_site_variant,,ENSM00111265436,; G ENSG00000178605 ENST00000326153 Transcript missense_variant 213/1907 181/1551 61/516 G/R Ggc/Cgc rs1348836510 1 NA -1 GTPBP6 HGNC HGNC:30189 protein_coding YES CCDS75943.1 ENSP00000316598 O43824.151 UPI00043B9035 NM_012227.3 tolerated(0.13) unknown(0) 1/10 Low_complexity_(Seg):seg,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CCG . 1456.6 NA NA NA NA NA NA NA NA NA 318607 PPP2R3B 28227 . GRCh38 chrX 361405 361405 + Missense_Mutation SNP C C A novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.510G>T p.Lys170Asn p.K170N ENST00000390665 2/13 NA NA NA NA NA NA PPP2R3B,missense_variant,p.Lys170Asn,ENST00000390665,NM_013239.5;PPP2R3B,missense_variant,p.Lys142Asn,ENST00000381625,;PPP2R3B,splice_region_variant,,ENST00000445792,;PPP2R3B,splice_region_variant,,ENST00000496630,; A ENSG00000167393 ENST00000390665 Transcript missense_variant,splice_region_variant 726/2378 510/1728 170/575 K/N aaG/aaT 1 NA -1 PPP2R3B HGNC HGNC:13417 protein_coding YES CCDS14104.1 ENSP00000375080 Q9Y5P8.176 UPI00001BB8B8 NM_013239.5 deleterious(0) possibly_damaging(0.898) 2/13 PDB-ENSP_mappings:4i5l.B,PDB-ENSP_mappings:4i5l.E,PDB-ENSP_mappings:4i5n.B,PDB-ENSP_mappings:4i5n.E,PDB-ENSP_mappings:4mew.A,PANTHER:PTHR14095,PANTHER:PTHR14095:SF1,Gene3D:1.10.238.230,Superfamily:SSF47473 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CCT . 6316.6 NA NA NA NA NA NA NA NA NA 361405 CRLF2 64109 . GRCh38 chrX 1190963 1190963 + Silent SNP G G A rs1165061698 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1050C>T p.Gly350= p.G350= ENST00000381566 8/9 NA NA NA NA NA NA CRLF2,synonymous_variant,p.Gly350=,ENST00000381566,;CRLF2,synonymous_variant,p.Gly350=,ENST00000400841,NM_022148.4;CRLF2,synonymous_variant,p.Gly238=,ENST00000381567,NM_001012288.2;CRLF2,3_prime_UTR_variant,,ENST00000467626,; A ENSG00000205755 ENST00000381566 Transcript synonymous_variant 1053/1545 1050/1116 350/371 G ggC/ggT rs1165061698 1 NA -1 CRLF2 HGNC HGNC:14281 protein_coding YES CCDS75945.1 ENSP00000370978 Q9HC73.162 D0E2W4.67 UPI0000048F68 8/9 PANTHER:PTHR23036,PANTHER:PTHR23036:SF163 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA 1 . CGC . 2696.6 NA NA NA NA NA NA NA NA NA 1190963 CRLF2 64109 . GRCh38 chrX 1191074 1191074 + Silent SNP T T C rs1480839877 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.939A>G p.Val313= p.V313= ENST00000381566 8/9 NA NA NA NA NA NA CRLF2,synonymous_variant,p.Val313=,ENST00000381566,;CRLF2,synonymous_variant,p.Val313=,ENST00000400841,NM_022148.4;CRLF2,synonymous_variant,p.Val201=,ENST00000381567,NM_001012288.2;CRLF2,3_prime_UTR_variant,,ENST00000467626,; C ENSG00000205755 ENST00000381566 Transcript synonymous_variant 942/1545 939/1116 313/371 V gtA/gtG rs1480839877 1 NA -1 CRLF2 HGNC HGNC:14281 protein_coding YES CCDS75945.1 ENSP00000370978 Q9HC73.162 D0E2W4.67 UPI0000048F68 8/9 PANTHER:PTHR23036,PANTHER:PTHR23036:SF163 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA 1 . CTA . 2839.6 NA NA NA NA NA NA NA NA NA 1191074 CRLF2 64109 . GRCh38 chrX 1191089 1191089 + Silent SNP G G A rs1310782840 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.924C>T p.Pro308= p.P308= ENST00000381566 8/9 NA NA NA NA NA NA CRLF2,synonymous_variant,p.Pro308=,ENST00000381566,;CRLF2,synonymous_variant,p.Pro308=,ENST00000400841,NM_022148.4;CRLF2,synonymous_variant,p.Pro196=,ENST00000381567,NM_001012288.2;CRLF2,3_prime_UTR_variant,,ENST00000467626,; A ENSG00000205755 ENST00000381566 Transcript synonymous_variant 927/1545 924/1116 308/371 P ccC/ccT rs1310782840 1 NA -1 CRLF2 HGNC HGNC:14281 protein_coding YES CCDS75945.1 ENSP00000370978 Q9HC73.162 D0E2W4.67 UPI0000048F68 8/9 PANTHER:PTHR23036,PANTHER:PTHR23036:SF163 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA 1 . CGG . 2288.6 NA NA NA NA NA NA NA NA NA 1191089 VCX3A 51481 . GRCh38 chrX 6533758 6533759 + In_Frame_Ins INS - - GTTCTTCCATCTCGCTCTCCTGACTCAGTGGTTCCTCCACCTGGCTCTCCTGACTCAGTG rs1569056843 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.488_547dup p.Pro163_Glu182dup p.P163_E182dup ENST00000381089 3/3 NA NA NA NA NA NA VCX3A,inframe_insertion,p.Pro163_Glu182dup,ENST00000381089,NM_016379.4;VCX3A,inframe_insertion,p.Pro143_Glu162dup,ENST00000398729,;VCX3A,splice_region_variant,,ENST00000612369,; GTTCTTCCATCTCGCTCTCCTGACTCAGTGGTTCCTCCACCTGGCTCTCCTGACTCAGTG ENSG00000169059 ENST00000381089 Transcript inframe_insertion 854-855/995 547-548/561 183/186 L/PLSQESQVEEPLSQESEMEEL cta/cCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACTGAGTCAGGAGAGCGAGATGGAAGAACta rs1569056843 1 NA -1 VCX3A HGNC HGNC:18159 protein_coding YES CCDS35199.1 ENSP00000370479 Q9NNX9.112 UPI0000138292 NM_016379.4 3/3 Low_complexity_(Seg):seg,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 insertion 1 NA NA NA . TAG . 2634.64 NA NA NA NA NA NA NA NA NA 6533758 VCX 26609 . GRCh38 chrX 7843976 7843976 + Missense_Mutation SNP C C T rs78342118 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.581C>T p.Pro194Leu p.P194L ENST00000381059 3/3 NA NA NA NA NA NA VCX,missense_variant,p.Pro194Leu,ENST00000381059,NM_013452.2;VCX,missense_variant,p.Pro174Leu,ENST00000341408,;VCX,intron_variant,,ENST00000620630,; T ENSG00000182583 ENST00000381059 Transcript missense_variant 800/967 581/621 194/206 P/L cCg/cTg rs78342118,COSV58232504 1 NA 1 VCX HGNC HGNC:12667 protein_coding YES CCDS14128.1 ENSP00000370447 Q9H320.116 UPI0000138291 NM_013452.2 tolerated(1) benign(0.003) 3/3 PANTHER:PTHR15251,PANTHER:PTHR15251:SF2,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA 0.4167 0.4206 0,1 NA NA NA NA MODERATE 1 SNV 1 NA 0,1 NA NA . CCG . 11594.03 NA NA NA NA NA NA NA NA NA 7843976 SHROOM2 357 . GRCh38 chrX 9873795 9873795 + Silent SNP C C T rs140479341 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.309C>T p.Val103= p.V103= ENST00000380913 2/10 NA NA NA NA NA NA SHROOM2,synonymous_variant,p.Val103=,ENST00000380913,NM_001649.4;Y_RNA,downstream_gene_variant,,ENST00000384117,;,regulatory_region_variant,,ENSR00000339636,; T ENSG00000146950 ENST00000380913 Transcript synonymous_variant 426/7474 309/4851 103/1616 V gtC/gtT rs140479341 1 NA 1 SHROOM2 HGNC HGNC:630 protein_coding YES CCDS14135.1 ENSP00000370299 Q13796.162 UPI0000125D05 NM_001649.4 2/10 Gene3D:2.30.42.10,Pfam:PF00595,PROSITE_profiles:PS50106,PANTHER:PTHR15012,PANTHER:PTHR15012:SF8,SMART:SM00228,Superfamily:SSF50156,CDD:cd00992 NA NA NA NA NA NA NA NA 0.0001486 NA NA NA NA LOW 1 SNV 1 NA NA NA . TCG . 2285.6 7.699e-05 NA 3.683e-05 0.0001356 NA 6.267e-05 0.0001355 NA NA 9873795 CLCN4 1183 . GRCh38 chrX 10212472 10212472 + Silent SNP G G A rs150240935 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1419G>A p.Pro473= p.P473= ENST00000421085 10/13 NA NA NA NA NA NA CLCN4,synonymous_variant,p.Pro465=,ENST00000380833,NM_001830.4;CLCN4,synonymous_variant,p.Pro473=,ENST00000421085,;CLCN4,synonymous_variant,p.Pro434=,ENST00000380829,;CLCN4,synonymous_variant,p.Pro371=,ENST00000674669,NM_001256944.1;CLCN4,synonymous_variant,p.Pro465=,ENST00000675769,;CLCN4,3_prime_UTR_variant,,ENST00000675144,; A ENSG00000073464 ENST00000421085 Transcript synonymous_variant 1504/3581 1419/2307 473/768 P ccG/ccA rs150240935,COSV66466265 1 NA 1 CLCN4 HGNC HGNC:2022 protein_coding YES ENSP00000405754 P51793.174 10/13 Gene3D:1.10.3080.10,Pfam:PF00654,Prints:PR00762,PANTHER:PTHR45711,PANTHER:PTHR45711:SF2,Superfamily:SSF81340,CDD:cd03684 NA NA NA NA NA NA NA NA 0.0001486 likely_benign 0,1 NA NA NA NA LOW 1 SNV 5 NA 1,1 NA 1 . CGT . 2935.6 9.335e-05 NA 3.658e-05 NA 7.223e-05 NA 0.0001853 NA NA 10212472 MID1 4281 . GRCh38 chrX 10474660 10474660 + Silent SNP T T C novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1257A>G p.Arg419= p.R419= ENST00000675073 6/10 NA NA NA NA NA NA MID1,synonymous_variant,p.Arg368=,ENST00000453318,NM_001098624.2;MID1,synonymous_variant,p.Arg368=,ENST00000380780,NM_001347733.2;MID1,synonymous_variant,p.Arg368=,ENST00000317552,NM_033289.2,NM_000381.4;MID1,synonymous_variant,p.Arg368=,ENST00000380785,;MID1,synonymous_variant,p.Arg368=,ENST00000380779,NM_001193277.1;MID1,synonymous_variant,p.Arg368=,ENST00000380787,NM_033290.4;MID1,synonymous_variant,p.Arg368=,ENST00000380782,;MID1,synonymous_variant,p.Arg419=,ENST00000675073,;MID1,synonymous_variant,p.Arg419=,ENST00000616003,NM_001193280.1,NM_001193279.1,NM_001193278.1;MID1,synonymous_variant,p.Arg368=,ENST00000413894,;MID1,synonymous_variant,p.Arg79=,ENST00000674917,; C ENSG00000101871 ENST00000675073 Transcript synonymous_variant 1313/2369 1257/2157 419/718 R cgA/cgG 1 NA -1 MID1 HGNC HGNC:7095 protein_coding YES ENSP00000501707 UPI000387AF4F 6/10 Pfam:PF18568,PROSITE_profiles:PS51262,PANTHER:PTHR24099:SF23,PANTHER:PTHR24099 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV NA NA NA 1 . CTC . 391.6 NA NA NA NA NA NA NA NA NA 10474660 MID1 4281 . GRCh38 chrX 10474672 10474672 + Silent SNP T T C novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1245A>G p.Leu415= p.L415= ENST00000675073 6/10 NA NA NA NA NA NA MID1,synonymous_variant,p.Leu364=,ENST00000453318,NM_001098624.2;MID1,synonymous_variant,p.Leu364=,ENST00000380780,NM_001347733.2;MID1,synonymous_variant,p.Leu364=,ENST00000317552,NM_033289.2,NM_000381.4;MID1,synonymous_variant,p.Leu364=,ENST00000380785,;MID1,synonymous_variant,p.Leu364=,ENST00000380779,NM_001193277.1;MID1,synonymous_variant,p.Leu364=,ENST00000380787,NM_033290.4;MID1,synonymous_variant,p.Leu364=,ENST00000380782,;MID1,synonymous_variant,p.Leu415=,ENST00000675073,;MID1,synonymous_variant,p.Leu415=,ENST00000616003,NM_001193280.1,NM_001193279.1,NM_001193278.1;MID1,synonymous_variant,p.Leu364=,ENST00000413894,;MID1,synonymous_variant,p.Leu75=,ENST00000674917,; C ENSG00000101871 ENST00000675073 Transcript synonymous_variant 1301/2369 1245/2157 415/718 L ttA/ttG 1 NA -1 MID1 HGNC HGNC:7095 protein_coding YES ENSP00000501707 UPI000387AF4F 6/10 Pfam:PF18568,PROSITE_profiles:PS51262,PANTHER:PTHR24099:SF23,PANTHER:PTHR24099 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV NA NA NA 1 . CTA . 451.6 NA NA NA NA NA NA NA NA NA 10474672 MID1 4281 . GRCh38 chrX 10474681 10474681 + Silent SNP G G A NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1236C>T p.Thr412= p.T412= ENST00000675073 6/10 NA NA NA NA NA NA MID1,synonymous_variant,p.Thr361=,ENST00000453318,NM_001098624.2;MID1,synonymous_variant,p.Thr361=,ENST00000380780,NM_001347733.2;MID1,synonymous_variant,p.Thr361=,ENST00000317552,NM_033289.2,NM_000381.4;MID1,synonymous_variant,p.Thr361=,ENST00000380785,;MID1,synonymous_variant,p.Thr361=,ENST00000380779,NM_001193277.1;MID1,synonymous_variant,p.Thr361=,ENST00000380787,NM_033290.4;MID1,synonymous_variant,p.Thr361=,ENST00000380782,;MID1,synonymous_variant,p.Thr412=,ENST00000675073,;MID1,synonymous_variant,p.Thr412=,ENST00000616003,NM_001193280.1,NM_001193279.1,NM_001193278.1;MID1,synonymous_variant,p.Thr361=,ENST00000413894,;MID1,synonymous_variant,p.Thr72=,ENST00000674917,; A ENSG00000101871 ENST00000675073 Transcript synonymous_variant 1292/2369 1236/2157 412/718 T acC/acT COSV58194124 1 NA -1 MID1 HGNC HGNC:7095 protein_coding YES ENSP00000501707 UPI000387AF4F 6/10 Pfam:PF18568,PROSITE_profiles:PS51262,PANTHER:PTHR24099:SF23,PANTHER:PTHR24099 NA NA NA NA NA NA NA NA NA 1 NA NA NA NA LOW 1 SNV NA NA 1 NA 1 . AGG . 472.6 NA NA NA NA NA NA NA NA NA 10474681 MID1 4281 . GRCh38 chrX 10474690 10474690 + Silent SNP T T C rs761240374 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1227A>G p.Thr409= p.T409= ENST00000675073 6/10 NA NA NA NA NA NA MID1,synonymous_variant,p.Thr358=,ENST00000453318,NM_001098624.2;MID1,synonymous_variant,p.Thr358=,ENST00000380780,NM_001347733.2;MID1,synonymous_variant,p.Thr358=,ENST00000317552,NM_033289.2,NM_000381.4;MID1,synonymous_variant,p.Thr358=,ENST00000380785,;MID1,synonymous_variant,p.Thr358=,ENST00000380779,NM_001193277.1;MID1,synonymous_variant,p.Thr358=,ENST00000380787,NM_033290.4;MID1,synonymous_variant,p.Thr358=,ENST00000380782,;MID1,synonymous_variant,p.Thr409=,ENST00000675073,;MID1,synonymous_variant,p.Thr409=,ENST00000616003,NM_001193280.1,NM_001193279.1,NM_001193278.1;MID1,synonymous_variant,p.Thr358=,ENST00000413894,;MID1,synonymous_variant,p.Thr69=,ENST00000674917,; C ENSG00000101871 ENST00000675073 Transcript synonymous_variant 1283/2369 1227/2157 409/718 T acA/acG rs761240374 1 NA -1 MID1 HGNC HGNC:7095 protein_coding YES ENSP00000501707 UPI000387AF4F 6/10 Pfam:PF18568,PROSITE_profiles:PS51262,PANTHER:PTHR24099:SF23,PANTHER:PTHR24099 NA NA NA NA NA NA NA NA NA likely_benign NA NA NA NA LOW 1 SNV NA NA 1 NA 1 . ATG . 400.6 1.092e-05 NA NA NA NA NA 2.445e-05 NA NA 10474690 MID1 4281 . GRCh38 chrX 10474711 10474711 + Silent SNP A A G novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1206T>C p.Pro402= p.P402= ENST00000675073 6/10 NA NA NA NA NA NA MID1,synonymous_variant,p.Pro351=,ENST00000453318,NM_001098624.2;MID1,synonymous_variant,p.Pro351=,ENST00000380780,NM_001347733.2;MID1,synonymous_variant,p.Pro351=,ENST00000317552,NM_033289.2,NM_000381.4;MID1,synonymous_variant,p.Pro351=,ENST00000380785,;MID1,synonymous_variant,p.Pro351=,ENST00000380779,NM_001193277.1;MID1,synonymous_variant,p.Pro351=,ENST00000380787,NM_033290.4;MID1,synonymous_variant,p.Pro351=,ENST00000380782,;MID1,synonymous_variant,p.Pro402=,ENST00000675073,;MID1,synonymous_variant,p.Pro402=,ENST00000616003,NM_001193280.1,NM_001193279.1,NM_001193278.1;MID1,synonymous_variant,p.Pro351=,ENST00000413894,;MID1,synonymous_variant,p.Pro62=,ENST00000674917,; G ENSG00000101871 ENST00000675073 Transcript synonymous_variant 1262/2369 1206/2157 402/718 P ccT/ccC 1 NA -1 MID1 HGNC HGNC:7095 protein_coding YES ENSP00000501707 UPI000387AF4F 6/10 Pfam:PF18568,PROSITE_profiles:PS51262,PANTHER:PTHR24099:SF23,PANTHER:PTHR24099 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV NA NA NA 1 . CAG . 326.6 NA NA NA NA NA NA NA NA NA 10474711 MID1 4281 . GRCh38 chrX 10474720 10474720 + Silent SNP A A G NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1197T>C p.Val399= p.V399= ENST00000675073 6/10 NA NA NA NA NA NA MID1,synonymous_variant,p.Val348=,ENST00000453318,NM_001098624.2;MID1,synonymous_variant,p.Val348=,ENST00000380780,NM_001347733.2;MID1,synonymous_variant,p.Val348=,ENST00000317552,NM_033289.2,NM_000381.4;MID1,synonymous_variant,p.Val348=,ENST00000380785,;MID1,synonymous_variant,p.Val348=,ENST00000380779,NM_001193277.1;MID1,synonymous_variant,p.Val348=,ENST00000380787,NM_033290.4;MID1,synonymous_variant,p.Val348=,ENST00000380782,;MID1,synonymous_variant,p.Val399=,ENST00000675073,;MID1,synonymous_variant,p.Val399=,ENST00000616003,NM_001193280.1,NM_001193279.1,NM_001193278.1;MID1,synonymous_variant,p.Val348=,ENST00000413894,;MID1,synonymous_variant,p.Val59=,ENST00000674917,; G ENSG00000101871 ENST00000675073 Transcript synonymous_variant 1253/2369 1197/2157 399/718 V gtT/gtC COSV100452292 1 NA -1 MID1 HGNC HGNC:7095 protein_coding YES ENSP00000501707 UPI000387AF4F 6/10 Pfam:PF18568,PROSITE_profiles:PS51262,PANTHER:PTHR24099:SF23,PANTHER:PTHR24099 NA NA NA NA NA NA NA NA NA 1 NA NA NA NA LOW 1 SNV NA NA 1 NA 1 . GAA . 320.6 NA NA NA NA NA NA NA NA NA 10474720 ASB11 140456 . GRCh38 chrX 15287984 15287984 + Silent SNP G G A rs778231280 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.744C>T p.Thr248= p.T248= ENST00000480796 6/7 NA NA NA NA NA NA ASB11,synonymous_variant,p.Thr248=,ENST00000480796,NM_080873.3;ASB11,synonymous_variant,p.Thr231=,ENST00000380470,NM_001201583.2;ASB11,synonymous_variant,p.Thr227=,ENST00000344384,NM_001012428.2;ASB11,3_prime_UTR_variant,,ENST00000485437,; A ENSG00000165192 ENST00000480796 Transcript synonymous_variant 779/2815 744/972 248/323 T acC/acT rs778231280 1 NA -1 ASB11 HGNC HGNC:17186 protein_coding YES CCDS14164.1 ENSP00000417914 Q8WXH4.148 UPI00000474F1 NM_080873.3 6/7 PDB-ENSP_mappings:4uuc.A,PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,PANTHER:PTHR24136,PANTHER:PTHR24136:SF14,Gene3D:1.25.40.20,Pfam:PF13637,SMART:SM00248,Superfamily:SSF48403 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . CGG . 2187.6 2.73e-05 NA NA NA 0.000217 NA 1.223e-05 NA 5.257e-05 15287984 PIGA 5277 . GRCh38 chrX 15331523 15331523 + Silent SNP A A G novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.408T>C p.His136= p.H136= ENST00000542278 2/6 NA NA NA NA NA NA PIGA,synonymous_variant,p.His136=,ENST00000542278,;PIGA,synonymous_variant,p.His136=,ENST00000333590,NM_002641.4;PIGA,synonymous_variant,p.His136=,ENST00000635543,;PIGA,intron_variant,,ENST00000482148,;PIGA,intron_variant,,ENST00000634582,NM_020473.3;PIGA,intron_variant,,ENST00000634640,;PIGA,intron_variant,,ENST00000637296,;PIGA,upstream_gene_variant,,ENST00000635631,;PIGA,upstream_gene_variant,,ENST00000637799,;PIGA,synonymous_variant,p.His136=,ENST00000637626,;PIGA,non_coding_transcript_exon_variant,,ENST00000635045,;PIGA,intron_variant,,ENST00000474662,;PIGA,intron_variant,,ENST00000634286,;PIGA,intron_variant,,ENST00000635598,;PIGA,intron_variant,,ENST00000638131,;PIGA,upstream_gene_variant,,ENST00000634484,; G ENSG00000165195 ENST00000542278 Transcript synonymous_variant 528/3626 408/1455 136/484 H caT/caC 1 NA -1 PIGA HGNC HGNC:8957 protein_coding YES CCDS14165.1 ENSP00000442653 P37287.181 A0A2K4ZA02.16 UPI0000131AAE 2/6 CDD:cd03796,PANTHER:PTHR45871,PANTHER:PTHR45871:SF3,Pfam:PF08288,Gene3D:3.40.50.2000,Superfamily:SSF53756 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA 1 . CAT . 3246.6 NA NA NA NA NA NA NA NA NA 15331523 NHS 4810 . GRCh38 chrX 17719361 17719361 + Silent SNP G G A rs755068848 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.870G>A p.Ser290= p.S290= ENST00000676302 4/9 NA NA NA NA NA NA NHS,synonymous_variant,p.Ser290=,ENST00000676302,NM_001291867.2;NHS,synonymous_variant,p.Ser110=,ENST00000615422,;NHS,synonymous_variant,p.Ser113=,ENST00000398097,NM_001136024.4;NHS,intron_variant,,ENST00000380060,NM_198270.4;NHS,intron_variant,,ENST00000617601,NM_001291868.2;NHS,non_coding_transcript_exon_variant,,ENST00000485305,;,regulatory_region_variant,,ENSR00001158437,; A ENSG00000188158 ENST00000676302 Transcript synonymous_variant 1428/9044 870/4956 290/1651 S tcG/tcA rs755068848,COSV66271079 1 NA 1 NHS HGNC HGNC:7820 protein_coding YES ENSP00000502262 UPI000189A9A8 NM_001291867.2 4/9 PANTHER:PTHR23039,PANTHER:PTHR23039:SF5 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA LOW 1 SNV NA NA 0,1 NA 1 . CGC . 1291.6 1.743e-05 NA NA NA NA NA 2.256e-05 NA 7.041e-05 17719361 PHKA2 5256 . GRCh38 chrX 18908003 18908003 + Missense_Mutation SNP T T G NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2414A>C p.Asn805Thr p.N805T ENST00000379942 22/33 NA NA NA NA NA NA PHKA2,missense_variant,p.Asn805Thr,ENST00000379942,NM_000292.3;PHKA2,upstream_gene_variant,,ENST00000469645,;PHKA2,upstream_gene_variant,,ENST00000486231,; G ENSG00000044446 ENST00000379942 Transcript missense_variant 2596/5077 2414/3708 805/1235 N/T aAc/aCc COSV66055228 1 NA -1 PHKA2 HGNC HGNC:8926 protein_coding YES CCDS14190.1 ENSP00000369274 P46019.195 UPI000012DF4B NM_000292.3 tolerated(0.16) benign(0) 22/33 Pfam:PF00723,PANTHER:PTHR10749,PANTHER:PTHR10749:SF5 NA NA NA NA NA NA NA NA NA 1 NA NA NA NA MODERATE 1 SNV 1 NA 1 NA 1 . GTT . 5437.6 NA NA NA NA NA NA NA NA NA 18908003 KLHL34 257240 . GRCh38 chrX 21656625 21656625 + Silent SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1164G>A p.Ser388= p.S388= ENST00000379499 1/1 NA NA NA NA NA NA KLHL34,synonymous_variant,p.Ser388=,ENST00000379499,NM_153270.3;CNKSR2,downstream_gene_variant,,ENST00000379510,NM_014927.5;CNKSR2,downstream_gene_variant,,ENST00000425654,NM_001168647.3;CNKSR2,downstream_gene_variant,,ENST00000644295,;CNKSR2,downstream_gene_variant,,ENST00000644585,NM_001330770.2;CNKSR2,downstream_gene_variant,,ENST00000645245,NM_001330772.2;CNKSR2,downstream_gene_variant,,ENST00000642853,;CNKSR2,downstream_gene_variant,,ENST00000643484,;CNKSR2,downstream_gene_variant,,ENST00000645238,;CNKSR2,downstream_gene_variant,,ENST00000646690,;CNKSR2,downstream_gene_variant,,ENST00000643156,;CNKSR2,downstream_gene_variant,,ENST00000644075,;CNKSR2,downstream_gene_variant,,ENST00000645539,;CNKSR2,downstream_gene_variant,,ENST00000647532,;,regulatory_region_variant,,ENSR00001158714,; T ENSG00000185915 ENST00000379499 Transcript synonymous_variant 1706/3641 1164/1935 388/644 S tcG/tcA 1 NA -1 KLHL34 HGNC HGNC:26634 protein_coding YES CCDS14199.1 ENSP00000368813 Q8N239.133 UPI0000072CC4 NM_153270.3 1/1 Low_complexity_(Seg):seg,PANTHER:PTHR45632:SF8,PANTHER:PTHR45632,Gene3D:2.120.10.80,Pfam:PF01344,PIRSF:PIRSF037037,SMART:SM00612,Superfamily:SSF117281 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW NA SNV NA NA NA NA . GCG . 5102.6 NA NA NA NA NA NA NA NA NA 21656625 KLHL34 257240 . GRCh38 chrX 21657589 21657589 + Missense_Mutation SNP G G A NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.200C>T p.Ala67Val p.A67V ENST00000379499 1/1 NA NA NA NA NA NA KLHL34,missense_variant,p.Ala67Val,ENST00000379499,NM_153270.3;CNKSR2,downstream_gene_variant,,ENST00000379510,NM_014927.5;CNKSR2,downstream_gene_variant,,ENST00000425654,NM_001168647.3;CNKSR2,downstream_gene_variant,,ENST00000644295,;CNKSR2,downstream_gene_variant,,ENST00000644585,NM_001330770.2;CNKSR2,downstream_gene_variant,,ENST00000645245,NM_001330772.2;CNKSR2,downstream_gene_variant,,ENST00000642853,;CNKSR2,downstream_gene_variant,,ENST00000643484,;CNKSR2,downstream_gene_variant,,ENST00000645238,;CNKSR2,downstream_gene_variant,,ENST00000646690,;CNKSR2,downstream_gene_variant,,ENST00000643156,;CNKSR2,downstream_gene_variant,,ENST00000644075,;CNKSR2,downstream_gene_variant,,ENST00000645539,;CNKSR2,downstream_gene_variant,,ENST00000647532,; A ENSG00000185915 ENST00000379499 Transcript missense_variant 742/3641 200/1935 67/644 A/V gCg/gTg COSV65279050,COSV65279603 1 NA -1 KLHL34 HGNC HGNC:26634 protein_coding YES CCDS14199.1 ENSP00000368813 Q8N239.133 UPI0000072CC4 NM_153270.3 deleterious(0) probably_damaging(0.985) 1/1 PROSITE_profiles:PS50097,CDD:cd18264,PANTHER:PTHR45632:SF8,PANTHER:PTHR45632,Pfam:PF00651,Gene3D:3.30.710.10,PIRSF:PIRSF037037,SMART:SM00225,Superfamily:SSF54695 NA NA NA NA NA NA NA NA NA 1,1 NA NA NA NA MODERATE NA SNV NA NA 1,1 NA NA . CGC . 4151.6 NA NA NA NA NA NA NA NA NA 21657589 KLHL15 80311 . GRCh38 chrX 24006078 24006078 + Missense_Mutation SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.616C>T p.Arg206Trp p.R206W ENST00000328046 3/4 NA NA NA NA NA NA KLHL15,missense_variant,p.Arg206Trp,ENST00000328046,NM_030624.3;,regulatory_region_variant,,ENSR00000245350,; A ENSG00000174010 ENST00000328046 Transcript missense_variant 872/6272 616/1815 206/604 R/W Cgg/Tgg 1 NA -1 KLHL15 HGNC HGNC:29347 protein_coding YES CCDS35217.1 ENSP00000332791 Q96M94.147 V9HWF1.57 UPI000019832F NM_030624.3 deleterious(0) probably_damaging(0.958) 3/4 SMART:SM00875,Pfam:PF07707,PIRSF:PIRSF037037,Gene3D:1.25.40.420,PANTHER:PTHR45632,PANTHER:PTHR45632:SF12,CDD:cd18454,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 2 NA NA 1 . CGC . 1484.6 NA NA NA NA NA NA NA NA NA 24006078 SUPT20HL1 0 . GRCh38 chrX 24364452 24364452 + Silent SNP G G A rs750710743 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1692G>A p.Ala564= p.A564= ENST00000436466 2/2 NA NA NA NA NA NA SUPT20HL1,synonymous_variant,p.Ala564=,ENST00000436466,NM_001136234.2;,regulatory_region_variant,,ENSR00001158898,; A ENSG00000223731 ENST00000436466 Transcript synonymous_variant 1781/2753 1692/2664 564/887 A gcG/gcA rs750710743 1 NA 1 SUPT20HL1 HGNC HGNC:30773 protein_coding YES ENSP00000502907 UPI0001837EA1 NM_001136234.2 2/2 PANTHER:PTHR13526,PANTHER:PTHR13526:SF17,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV NA NA NA NA . CGG . 2680.6 1.454e-05 NA NA NA NA 7.632e-05 1.732e-05 NA NA 24364452 POLA1 5422 . GRCh38 chrX 24735478 24735478 + Missense_Mutation SNP A A G novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1913A>G p.Asp638Gly p.D638G ENST00000379068 18/37 NA NA NA NA NA NA POLA1,missense_variant,p.Asp638Gly,ENST00000379068,NM_001330360.2,NM_001378303.1;POLA1,missense_variant,p.Asp632Gly,ENST00000379059,NM_016937.4;POLA1,downstream_gene_variant,,ENST00000493342,;POLA1,3_prime_UTR_variant,,ENST00000672178,;POLA1,non_coding_transcript_exon_variant,,ENST00000611764,;POLA1,upstream_gene_variant,,ENST00000678249,; G ENSG00000101868 ENST00000379068 Transcript missense_variant 1957/5487 1913/4407 638/1468 D/G gAt/gGt 1 NA 1 POLA1 HGNC HGNC:9173 protein_coding YES CCDS83462.1 ENSP00000368358 A6NMQ1.112 UPI000022DD18 NM_001330360.2,NM_001378303.1 deleterious(0) probably_damaging(1) 18/37 Gene3D:3.30.420.10,Pfam:PF03104,PANTHER:PTHR45861,SMART:SM00486,Superfamily:SSF53098,TIGRFAM:TIGR00592,CDD:cd05776 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA 1 . GAT . 2326.6 NA NA NA NA NA NA NA NA NA 24735478 DCAF8L2 347442 . GRCh38 chrX 27747283 27747291 + In_Frame_Del DEL GAGGAGGAG GAGGAGGAG - rs745536197 NA HCI-EC-23 NORMAL GAGGAGGAG GAGGAGGAG NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.388_396del p.Glu145_Glu147del p.E145_E147del ENST00000451261 5/5 NA NA NA NA NA NA DCAF8L2,inframe_deletion,p.Glu145_Glu147del,ENST00000451261,NM_001353448.2,NM_001353449.2,NM_001353450.2;DCAF8L2,inframe_deletion,p.Glu145_Glu147del,ENST00000545306,;DCAF8L2,downstream_gene_variant,,ENST00000431122,;DCAF8L2,downstream_gene_variant,,ENST00000583068,; - ENSG00000189186 ENST00000451261 Transcript inframe_deletion 787-795/2295 388-396/1896 130-132/631 EEE/- GAGGAGGAG/- rs745536197 1 NA 1 DCAF8L2 HGNC HGNC:31811 protein_coding YES CCDS59162.1 ENSP00000462745 P0C7V8.87 UPI000183CBD9 NM_001353448.2,NM_001353449.2,NM_001353450.2 5/5 Low_complexity_(Seg):seg,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite,Coiled-coils_(Ncoils):Coil,PANTHER:PTHR15574:SF61,PANTHER:PTHR15574 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 sequence_alteration 4 NA NA NA . AAGAGGAGGAGG . 1779.1 NA NA NA NA NA NA NA NA NA 27747282 FAM47B 170062 . GRCh38 chrX 34944127 34944127 + Silent SNP G G A rs200405744 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1296G>A p.Ala432= p.A432= ENST00000329357 1/1 NA NA NA NA NA NA FAM47B,synonymous_variant,p.Ala432=,ENST00000329357,NM_152631.3; A ENSG00000189132 ENST00000329357 Transcript synonymous_variant 1332/2120 1296/1938 432/645 A gcG/gcA rs200405744,COSV100264741,COSV61454119 1 NA 1 FAM47B HGNC HGNC:26659 protein_coding YES CCDS14236.1 ENSP00000328307 Q8NA70.111 UPI000013F47B NM_152631.3 1/1 Pfam:PF14642,PANTHER:PTHR47415,PANTHER:PTHR47415:SF1 8e-04 0.001 0.0019 NA NA 0.0013 NA NA NA 0,1,1 NA NA NA NA LOW 1 SNV NA NA 0,1,1 NA NA . CGT . 4681.6 4.359e-05 NA 3.646e-05 NA NA NA 2.44e-05 NA 0.0002621 34944127 FAM47C 442444 . GRCh38 chrX 37009171 37009171 + Missense_Mutation SNP A A G rs879995795 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.761A>G p.Gln254Arg p.Q254R ENST00000358047 1/1 NA NA NA NA NA NA FAM47C,missense_variant,p.Gln254Arg,ENST00000358047,NM_001013736.3; G ENSG00000198173 ENST00000358047 Transcript missense_variant 806/3299 761/3108 254/1035 Q/R cAg/cGg rs879995795,COSV63728524 1 NA 1 FAM47C HGNC HGNC:25301 protein_coding YES CCDS35227.1 ENSP00000367913 Q5HY64.97 UPI000041ABF8 NM_001013736.3 tolerated(0.89) benign(0) 1/1 Pfam:PF14642,PANTHER:PTHR47415,PANTHER:PTHR47415:SF2,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV NA NA 0,1 NA 1 . CAG . 3463.6 NA NA NA NA NA NA NA NA NA 37009171 BCOR 54880 . GRCh38 chrX 40062191 40062191 + Missense_Mutation SNP T T C rs199538037 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.4376A>G p.Asn1459Ser p.N1459S ENST00000378444 10/15 NA NA NA NA NA NA BCOR,missense_variant,p.Asn1459Ser,ENST00000378444,NM_001123385.2;BCOR,missense_variant,p.Asn1425Ser,ENST00000342274,NM_001123383.1;BCOR,missense_variant,p.Asn1407Ser,ENST00000378455,NM_001123384.2;BCOR,missense_variant,p.Asn1425Ser,ENST00000397354,NM_017745.6;BCOR,missense_variant,p.Asn1425Ser,ENST00000673391,;BCOR,missense_variant,p.Asn912Ser,ENST00000427012,;BCOR,missense_variant,p.Asn132Ser,ENST00000442018,;BCOR,missense_variant,p.Asn329Ser,ENST00000413905,;BCOR,downstream_gene_variant,,ENST00000406200,;BCOR,non_coding_transcript_exon_variant,,ENST00000378463,;,regulatory_region_variant,,ENSR00000905270,; C ENSG00000183337 ENST00000378444 Transcript missense_variant 5160/6910 4376/5268 1459/1755 N/S aAt/aGt rs199538037,COSV60698733 1 NA -1 BCOR HGNC HGNC:20893 protein_coding YES CCDS48093.1 ENSP00000367705 Q6W2J9.159 UPI00002318CF NM_001123385.2 deleterious(0) possibly_damaging(0.578) 10/15 PANTHER:PTHR24117,PANTHER:PTHR24117:SF8,Gene3D:1.25.40.20 3e-04 0.001 NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 1 NA 0,1 NA 1 . ATT . 4469.6 5.832e-06 8.149e-05 NA NA NA NA NA NA NA 40062191 USP9X 8239 . GRCh38 chrX 41123704 41123704 + Frame_Shift_Del DEL C C - novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.82del p.Leu28SerfsTer51 p.L28Sfs*51 ENST00000324545 2/45 NA NA NA NA NA NA USP9X,frameshift_variant,p.Leu28SerfsTer51,ENST00000378308,NM_001039591.3;USP9X,frameshift_variant,p.Leu28SerfsTer51,ENST00000324545,NM_001039590.3; - ENSG00000124486 ENST00000324545 Transcript frameshift_variant 709/12401 76/7713 26/2570 P/X Ccc/cc 1 NA 1 USP9X HGNC HGNC:12632 protein_coding YES CCDS43930.1 ENSP00000316357 Q93008.204 UPI00001AF419 NM_001039590.3 2/45 MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 5 6 NA 1 . AGCC . 3555.6 NA NA NA NA NA NA NA NA NA 41123703 RGN 9104 . GRCh38 chrX 47091741 47091741 + Missense_Mutation SNP A A C rs1242976179 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.626A>C p.Asp209Ala p.D209A ENST00000397180 6/8 NA NA NA NA NA NA RGN,missense_variant,p.Asp209Ala,ENST00000397180,NM_001282848.1,NM_152869.4;RGN,missense_variant,p.Asp137Ala,ENST00000457380,NM_001282849.1;RGN,missense_variant,p.Asp209Ala,ENST00000352078,NM_004683.5;RGN,missense_variant,p.Asp209Ala,ENST00000336169,;RNU6-1189P,downstream_gene_variant,,ENST00000383958,;RGN,intron_variant,,ENST00000475448,;,regulatory_region_variant,,ENSR00001160154,; C ENSG00000130988 ENST00000397180 Transcript missense_variant 1528/2168 626/900 209/299 D/A gAt/gCt rs1242976179 1 NA 1 RGN HGNC HGNC:9989 protein_coding YES CCDS14272.1 ENSP00000380365 Q15493.159 V9HWF8.35 UPI0000135A59 NM_001282848.1,NM_152869.4 deleterious(0) probably_damaging(0.988) 6/8 Gene3D:2.120.10.30,PDB-ENSP_mappings:3g4e.A,PDB-ENSP_mappings:3g4e.B,PDB-ENSP_mappings:3g4h.A,PDB-ENSP_mappings:3g4h.B,PDB-ENSP_mappings:4gnb.A,PDB-ENSP_mappings:4gnb.B,PDB-ENSP_mappings:4gnc.A,PDB-ENSP_mappings:4gnc.B,Pfam:PF08450,Prints:PR01790,PANTHER:PTHR10907,PANTHER:PTHR10907:SF54,Superfamily:SSF63829 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . GAT . 2344.6 NA NA NA NA NA NA NA NA NA 47091741 SYN1 6853 . GRCh38 chrX 47575256 47575256 + Missense_Mutation SNP G G A rs1036892587 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1177C>T p.Pro393Ser p.P393S ENST00000295987 10/13 NA NA NA NA NA NA SYN1,missense_variant,p.Pro393Ser,ENST00000295987,NM_006950.3;SYN1,missense_variant,p.Pro393Ser,ENST00000340666,NM_133499.2;ARAF,downstream_gene_variant,,ENST00000290277,NM_001256196.1;ARAF,downstream_gene_variant,,ENST00000377045,NM_001654.5;SYN1,upstream_gene_variant,,ENST00000640721,;ARAF,downstream_gene_variant,,ENST00000470206,;Z84466.1,non_coding_transcript_exon_variant,,ENST00000638776,; A ENSG00000008056 ENST00000295987 Transcript missense_variant 1306/3210 1177/2118 393/705 P/S Ccg/Tcg rs1036892587 1 NA -1 SYN1 HGNC HGNC:11494 protein_coding YES CCDS14280.1 ENSP00000295987 P17600.198 UPI0000167B47 NM_006950.3 deleterious(0.01) possibly_damaging(0.631) 10/13 Gene3D:3.30.470.20,Gene3D:3.40.50.20,Pfam:PF02750,PANTHER:PTHR10841,PANTHER:PTHR10841:SF24,Superfamily:SSF56059 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE NA SNV 2 NA NA 1 . GGC . 7414.6 NA NA NA NA NA NA NA NA NA 47575256 PRAF2 11230 . GRCh38 chrX 49073929 49073929 + Missense_Mutation SNP G G A rs782276544 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.59C>T p.Ala20Val p.A20V ENST00000553851 1/3 NA NA NA NA NA NA PRAF2,missense_variant,p.Ala20Val,ENST00000553851,NM_007213.3;PRAF2,missense_variant,p.Ala20Val,ENST00000376386,;AC231657.3,intron_variant,,ENST00000376358,;WDR45,downstream_gene_variant,,ENST00000322995,;WDR45,downstream_gene_variant,,ENST00000356463,NM_007075.3;WDR45,downstream_gene_variant,,ENST00000367375,;WDR45,downstream_gene_variant,,ENST00000376368,;WDR45,downstream_gene_variant,,ENST00000376372,NM_001029896.2;WDR45,downstream_gene_variant,,ENST00000396681,;WDR45,downstream_gene_variant,,ENST00000419567,;WDR45,downstream_gene_variant,,ENST00000423215,;WDR45,downstream_gene_variant,,ENST00000465382,;WDR45,downstream_gene_variant,,ENST00000471338,;WDR45,downstream_gene_variant,,ENST00000473974,;WDR45,downstream_gene_variant,,ENST00000474053,;WDR45,downstream_gene_variant,,ENST00000475880,;WDR45,downstream_gene_variant,,ENST00000475977,;WDR45,downstream_gene_variant,,ENST00000476728,;WDR45,downstream_gene_variant,,ENST00000485908,;WDR45,downstream_gene_variant,,ENST00000486337,;CCDC120,downstream_gene_variant,,ENST00000603986,NM_001163321.4;CCDC120,downstream_gene_variant,,ENST00000606812,NM_001271835.1,NM_033626.3;WDR45,downstream_gene_variant,,ENST00000634559,;WDR45,downstream_gene_variant,,ENST00000634671,;WDR45,downstream_gene_variant,,ENST00000634736,;WDR45,downstream_gene_variant,,ENST00000634838,;WDR45,downstream_gene_variant,,ENST00000634849,;WDR45,downstream_gene_variant,,ENST00000634944,;WDR45,downstream_gene_variant,,ENST00000635003,;WDR45,downstream_gene_variant,,ENST00000635666,;WDR45,downstream_gene_variant,,ENST00000636049,;WDR45,downstream_gene_variant,,ENST00000636645,;WDR45,downstream_gene_variant,,ENST00000376357,;WDR45,downstream_gene_variant,,ENST00000465431,;PRAF2,upstream_gene_variant,,ENST00000618882,;WDR45,downstream_gene_variant,,ENST00000634390,;WDR45,downstream_gene_variant,,ENST00000634852,;WDR45,downstream_gene_variant,,ENST00000635329,;WDR45,downstream_gene_variant,,ENST00000433252,;WDR45,downstream_gene_variant,,ENST00000465806,;WDR45,downstream_gene_variant,,ENST00000472654,;WDR45,downstream_gene_variant,,ENST00000480412,;WDR45,downstream_gene_variant,,ENST00000496803,;CCDC120,downstream_gene_variant,,ENST00000603906,;CCDC120,downstream_gene_variant,,ENST00000620388,;WDR45,downstream_gene_variant,,ENST00000634465,;WDR45,downstream_gene_variant,,ENST00000634522,;WDR45,downstream_gene_variant,,ENST00000634711,;WDR45,downstream_gene_variant,,ENST00000635344,;,regulatory_region_variant,,ENSR00000246547,; A ENSG00000243279 ENST00000553851 Transcript missense_variant 74/1260 59/537 20/178 A/V gCg/gTg rs782276544,COSV59877122 1 NA -1 PRAF2 HGNC HGNC:28911 protein_coding YES CCDS14317.1 ENSP00000451962 O60831.134 A0A024QZ22.34 UPI000004A126 NM_007213.3 tolerated(0.12) possibly_damaging(0.49) 1/3 PANTHER:PTHR12859,PANTHER:PTHR12859:SF1,Pfam:PF03208 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 1 NA 0,1 NA NA . CGC . 7614.6 NA NA NA NA NA NA NA NA NA 49073929 CACNA1F 778 . GRCh38 chrX 49219646 49219646 + Missense_Mutation SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2564G>A p.Ser855Asn p.S855N ENST00000376265 20/48 NA NA NA NA NA NA CACNA1F,missense_variant,p.Ser855Asn,ENST00000376265,NM_005183.4;CACNA1F,missense_variant,p.Ser844Asn,ENST00000323022,NM_001256789.3;CACNA1F,missense_variant,p.Ser790Asn,ENST00000376251,NM_001256790.3;CACNA1F,downstream_gene_variant,,ENST00000480889,;,regulatory_region_variant,,ENSR00000906877,; T ENSG00000102001 ENST00000376265 Transcript missense_variant 2626/6070 2564/5934 855/1977 S/N aGc/aAc 1 NA -1 CACNA1F HGNC HGNC:1393 protein_coding YES CCDS35253.1 ENSP00000365441 O60840.200 UPI0000072854 NM_005183.4 deleterious(0.01) possibly_damaging(0.877) 20/48 PANTHER:PTHR45628,PANTHER:PTHR45628:SF2 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . GCT . 3364.6 NA NA NA NA NA NA NA NA NA 49219646 CACNA1F 778 . GRCh38 chrX 49224786 49224786 + Missense_Mutation SNP G G T novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1885C>A p.Leu629Ile p.L629I ENST00000376265 14/48 NA NA NA NA NA NA CACNA1F,missense_variant,p.Leu629Ile,ENST00000376265,NM_005183.4;CACNA1F,missense_variant,p.Leu618Ile,ENST00000323022,NM_001256789.3;CACNA1F,missense_variant,p.Leu564Ile,ENST00000376251,NM_001256790.3;CACNA1F,upstream_gene_variant,,ENST00000480889,; T ENSG00000102001 ENST00000376265 Transcript missense_variant 1947/6070 1885/5934 629/1977 L/I Ctc/Atc 1 NA -1 CACNA1F HGNC HGNC:1393 protein_coding YES CCDS35253.1 ENSP00000365441 O60840.200 UPI0000072854 NM_005183.4 deleterious(0) probably_damaging(0.987) 14/48 Gene3D:1.20.120.350,Pfam:PF00520,PANTHER:PTHR45628,PANTHER:PTHR45628:SF2,Superfamily:SSF81324 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . AGG . 2512.6 NA NA NA NA NA NA NA NA NA 49224786 GAGE10 643832 . GRCh38 chrX 49319730 49319730 + Missense_Mutation SNP G G A rs5905737 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.331G>A p.Glu111Lys p.E111K ENST00000407599 5/5 NA NA NA NA NA NA GAGE10,missense_variant,p.Glu111Lys,ENST00000407599,NM_001098413.3;GAGE12J,upstream_gene_variant,,ENST00000442437,NM_001098406.2; A ENSG00000215274 ENST00000407599 Transcript missense_variant,splice_region_variant 424/538 331/351 111/116 E/K Gaa/Aaa rs5905737 1 NA 1 GAGE10 HGNC HGNC:30968 protein_coding YES CCDS78483.1 ENSP00000385415 A6NGK3.91 UPI0002AB8038 NM_001098413.3 deleterious(0.05) benign(0.005) 5/5 MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite,PANTHER:PTHR14047:SF30,PANTHER:PTHR14047,SMART:SM01379 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE NA SNV 5 NA NA NA . TGA . 97.6 NA NA NA NA NA NA NA NA NA 49319730 GAGE13 0 . GRCh38 chrX 49332762 49332764 + In_Frame_Del DEL TAT TAT - rs1419919831 NA HCI-EC-23 NORMAL TAT TAT NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.29_31del p.Tyr10del p.Y10del ENST00000612958 2/5 NA NA NA NA NA NA GAGE13,inframe_deletion,p.Tyr10del,ENST00000612958,NM_001098412.2;GAGE12J,downstream_gene_variant,,ENST00000442437,NM_001098406.2; - ENSG00000274274 ENST00000612958 Transcript inframe_deletion 107-109/530 25-27/354 9/117 Y/- TAT/- rs1419919831 1 NA 1 GAGE13 HGNC HGNC:29081 protein_coding YES CCDS48110.1 ENSP00000483811 Q4V321.108 UPI0002AB8024 NM_001098412.2 2/5 Pfam:PF05831,PANTHER:PTHR14047,PANTHER:PTHR14047:SF30,SMART:SM01379,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 deletion 1 4 NA NA . CCTATT . 102.8 NA NA NA NA NA NA NA NA NA 49332761 GAGE13 0 . GRCh38 chrX 49332768 49332768 + Missense_Mutation SNP T T C rs782569454 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.31T>C p.Trp11Arg p.W11R ENST00000612958 2/5 NA NA NA NA NA NA GAGE13,missense_variant,p.Trp11Arg,ENST00000612958,NM_001098412.2;GAGE12J,downstream_gene_variant,,ENST00000442437,NM_001098406.2; C ENSG00000274274 ENST00000612958 Transcript missense_variant 113/530 31/354 11/117 W/R Tgg/Cgg rs782569454 1 NA 1 GAGE13 HGNC HGNC:29081 protein_coding YES CCDS48110.1 ENSP00000483811 Q4V321.108 UPI0002AB8024 NM_001098412.2 tolerated(1) benign(0) 2/5 Pfam:PF05831,PANTHER:PTHR14047,PANTHER:PTHR14047:SF30,SMART:SM01379,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . TTG . 336.02 NA NA NA NA NA NA NA NA NA 49332768 CENPVL3 0 . GRCh38 chrX 51618126 51618126 + Missense_Mutation SNP C C T rs3879043 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.793G>A p.Glu265Lys p.E265K ENST00000417339 1/1 NA NA NA NA NA NA CENPVL3,missense_variant,p.Glu265Lys,ENST00000417339,NM_001355276.1; T ENSG00000224109 ENST00000417339 Transcript missense_variant 843/1945 793/864 265/287 E/K Gag/Aag rs3879043 1 NA -1 CENPVL3 HGNC HGNC:43880 protein_coding YES CCDS87743.1 ENSP00000489547 A0A0U1RRI6.23 UPI00001975C9 NM_001355276.1 tolerated(1) benign(0) 1/1 Low_complexity_(Seg):seg,MobiDB_lite:mobidb-lite,PANTHER:PTHR28620:SF7,PANTHER:PTHR28620 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV NA NA NA NA . TCG . 66.28 NA NA NA NA NA NA NA NA NA 51618126 MAGED1 9500 . GRCh38 chrX 51897017 51897017 + Silent SNP G G A rs1557364391 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1530G>A p.Ser510= p.S510= ENST00000375695 5/14 NA NA NA NA NA NA MAGED1,synonymous_variant,p.Ser510=,ENST00000375695,NM_001005333.2;MAGED1,synonymous_variant,p.Ser454=,ENST00000375722,;MAGED1,synonymous_variant,p.Ser454=,ENST00000326587,NM_006986.4;MAGED1,synonymous_variant,p.Ser454=,ENST00000375772,NM_001005332.2;MAGED1,non_coding_transcript_exon_variant,,ENST00000494718,;MAGED1,non_coding_transcript_exon_variant,,ENST00000485420,;MAGED1,downstream_gene_variant,,ENST00000470461,;MAGED1,upstream_gene_variant,,ENST00000473931,;MAGED1,downstream_gene_variant,,ENST00000482188,;MAGED1,downstream_gene_variant,,ENST00000482599,;,regulatory_region_variant,,ENSR00000246637,; A ENSG00000179222 ENST00000375695 Transcript synonymous_variant 1683/2875 1530/2505 510/834 S tcG/tcA rs1557364391 1 NA 1 MAGED1 HGNC HGNC:6813 protein_coding YES CCDS35279.1 ENSP00000364847 Q9Y5V3.191 UPI0000074161 NM_001005333.2 5/14 PANTHER:PTHR11736,PANTHER:PTHR11736:SF28,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . CGC . 2342.6 5.499e-06 NA NA NA NA NA NA NA 5.326e-05 51897017 TSPYL2 64061 . GRCh38 chrX 53082594 53082594 + Silent SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.96G>A p.Pro32= p.P32= ENST00000375442 1/7 NA NA NA NA NA NA TSPYL2,synonymous_variant,p.Pro32=,ENST00000375442,NM_022117.4;TSPYL2,synonymous_variant,p.Pro32=,ENST00000579390,;GPR173,downstream_gene_variant,,ENST00000332582,NM_018969.6;TSPYL2,non_coding_transcript_exon_variant,,ENST00000553557,;TSPYL2,upstream_gene_variant,,ENST00000463525,;TSPYL2,upstream_gene_variant,,ENST00000556808,;TSPYL2,upstream_gene_variant,,ENST00000578306,;,regulatory_region_variant,,ENSR00000246677,; A ENSG00000184205 ENST00000375442 Transcript synonymous_variant 228/2815 96/2082 32/693 P ccG/ccA 1 NA 1 TSPYL2 HGNC HGNC:24358 protein_coding YES CCDS14350.1 ENSP00000364591 Q9H2G4.158 UPI000004B6D6 NM_022117.4 1/7 MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . CGC . 3057.6 NA NA NA NA NA NA NA NA NA 53082594 TSPYL2 64061 . GRCh38 chrX 53083075 53083075 + Missense_Mutation SNP C C T rs192279149 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.577C>T p.Arg193Trp p.R193W ENST00000375442 1/7 NA NA NA NA NA NA TSPYL2,missense_variant,p.Arg193Trp,ENST00000375442,NM_022117.4;TSPYL2,intron_variant,,ENST00000579390,;GPR173,downstream_gene_variant,,ENST00000332582,NM_018969.6;TSPYL2,missense_variant,p.Arg29Trp,ENST00000578306,;TSPYL2,non_coding_transcript_exon_variant,,ENST00000553557,;TSPYL2,upstream_gene_variant,,ENST00000463525,;TSPYL2,upstream_gene_variant,,ENST00000556808,;,regulatory_region_variant,,ENSR00000246677,; T ENSG00000184205 ENST00000375442 Transcript missense_variant 709/2815 577/2082 193/693 R/W Cgg/Tgg rs192279149,COSV60233114 1 NA 1 TSPYL2 HGNC HGNC:24358 protein_coding YES CCDS14350.1 ENSP00000364591 Q9H2G4.158 UPI000004B6D6 NM_022117.4 deleterious(0) possibly_damaging(0.898) 1/7 PANTHER:PTHR11875,PANTHER:PTHR11875:SF72,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 1 NA 0,1 NA NA . GCG . 3048.6 5.917e-06 NA NA NA NA NA 1.358e-05 NA NA 53083075 HUWE1 10075 . GRCh38 chrX 53602654 53602654 + Missense_Mutation SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2881C>T p.Pro961Ser p.P961S ENST00000342160 27/83 NA NA NA NA NA NA HUWE1,missense_variant,p.Pro961Ser,ENST00000342160,;HUWE1,missense_variant,p.Pro961Ser,ENST00000262854,NM_031407.7;HUWE1,missense_variant,p.Pro961Ser,ENST00000612484,;HUWE1,non_coding_transcript_exon_variant,,ENST00000218328,; A ENSG00000086758 ENST00000342160 Transcript missense_variant 3339/14796 2881/13125 961/4374 P/S Cca/Tca 1 NA -1 HUWE1 HGNC HGNC:30892 protein_coding YES CCDS35301.1 ENSP00000340648 Q7Z6Z7.186 A0A024R9W5.52 UPI00004A0DAC tolerated(0.07) probably_damaging(0.951) 27/83 PANTHER:PTHR11254,PANTHER:PTHR11254:SF291 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA 1 . GGT . 510.6 NA NA NA NA NA NA NA NA NA 53602654 FGD1 2245 . GRCh38 chrX 54495138 54495138 + Nonsense_Mutation SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.295C>T p.Gln99Ter p.Q99* ENST00000375135 1/18 NA NA NA NA NA NA FGD1,stop_gained,p.Gln99Ter,ENST00000375135,NM_004463.3;,regulatory_region_variant,,ENSR00000246741,; A ENSG00000102302 ENST00000375135 Transcript stop_gained 1097/4343 295/2886 99/961 Q/* Cag/Tag 1 NA -1 FGD1 HGNC HGNC:3663 protein_coding YES CCDS14359.1 ENSP00000364277 P98174.190 A0A024R9Y5.54 UPI000012A705 NM_004463.3 1/18 MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 SNV 1 NA NA 1 . TGC . 2888.6 NA NA NA NA NA NA NA NA NA 54495138 MAGEH1 28986 . GRCh38 chrX 55452793 55452793 + Missense_Mutation SNP T T G novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.419T>G p.Phe140Cys p.F140C ENST00000342972 1/1 NA NA NA NA NA NA MAGEH1,missense_variant,p.Phe140Cys,ENST00000342972,NM_014061.5;MIR4536-2,downstream_gene_variant,,ENST00000583537,;MIR4536-1,upstream_gene_variant,,ENST00000636519,;,regulatory_region_variant,,ENSR00000246769,;,TF_binding_site_variant,,ENSM00524730187,; G ENSG00000187601 ENST00000342972 Transcript missense_variant 667/1440 419/660 140/219 F/C tTt/tGt 1 NA 1 MAGEH1 HGNC HGNC:24092 protein_coding YES CCDS14369.1 ENSP00000343706 Q9H213.133 UPI0000038A64 NM_014061.5 deleterious_low_confidence(0) probably_damaging(0.984) 1/1 PROSITE_profiles:PS50838,PANTHER:PTHR11736:SF8,PANTHER:PTHR11736,Pfam:PF01454,Gene3D:1.10.10.1210,SMART:SM01373 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV NA NA NA NA . TTT . 5748.6 NA NA NA NA NA NA NA NA NA 55452793 HEPH 9843 . GRCh38 chrX 66170627 66170627 + Silent SNP A A G novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.219A>G p.Gln73= p.Q73= ENST00000519389 2/21 NA NA NA NA NA NA HEPH,synonymous_variant,p.Gln73=,ENST00000519389,NM_138737.5;HEPH,synonymous_variant,p.Gln19=,ENST00000343002,;HEPH,synonymous_variant,p.Gln22=,ENST00000441993,NM_001367232.2,NM_001367233.2,NM_001367240.2,NM_001367238.2,NM_001367236.2,NM_001130860.4,NM_001367241.1,NM_001367239.1,NM_001367234.1;HEPH,synonymous_variant,p.Gln22=,ENST00000419594,NM_001282141.2,NM_001367243.2;HEPH,synonymous_variant,p.Gln19=,ENST00000425114,;HEPH,synonymous_variant,p.Gln19=,ENST00000458621,;HEPH,intron_variant,,ENST00000336279,NM_001367242.2,NM_014799.4;HEPH,synonymous_variant,p.Gln22=,ENST00000429547,; G ENSG00000089472 ENST00000519389 Transcript synonymous_variant 398/6013 219/3639 73/1212 Q caA/caG 1 NA 1 HEPH HGNC HGNC:4866 protein_coding YES CCDS14384.3 ENSP00000430620 Q9BQS7.162 UPI0001C06560 NM_138737.5 2/21 PANTHER:PTHR11709,PANTHER:PTHR11709:SF221 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . AAC . 1781.6 NA NA NA NA NA NA NA NA NA 66170627 AR 367 . GRCh38 chrX 67545270 67545270 + Missense_Mutation SNP C C A novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.124C>A p.Pro42Thr p.P42T ENST00000374690 1/8 NA NA NA NA NA NA AR,missense_variant,p.Pro42Thr,ENST00000374690,NM_000044.6,NM_001011645.3;AR,missense_variant,p.Pro42Thr,ENST00000504326,NM_001348061.1;AR,missense_variant,p.Pro42Thr,ENST00000396044,;AR,non_coding_transcript_exon_variant,,ENST00000513847,NM_001348063.1;AR,missense_variant,p.Pro42Thr,ENST00000612452,;AR,missense_variant,p.Pro42Thr,ENST00000514029,;AR,missense_variant,p.Pro42Thr,ENST00000613054,NM_001348064.1;AR,upstream_gene_variant,,ENST00000396043,;,regulatory_region_variant,,ENSR00000246918,; A ENSG00000169083 ENST00000374690 Transcript missense_variant 1250/10667 124/2763 42/920 P/T Cca/Aca 1 NA 1 AR HGNC HGNC:644 protein_coding YES CCDS14387.1 ENSP00000363822 P10275.280 UPI0000167B08 NM_000044.6,NM_001011645.3 deleterious_low_confidence(0) benign(0.281) 1/8 MobiDB_lite:mobidb-lite,Pfam:PF02166,PANTHER:PTHR24084,PANTHER:PTHR24084:SF6,Prints:PR00521 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . CCC . 1984.6 NA NA NA NA NA NA NA NA NA 67545270 AR 367 . GRCh38 chrX 67545317 67545319 + In_Frame_Del DEL GCA GCA - rs3032358 NA HCI-EC-23 NORMAL GCA GCA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.171_173del p.Gln80del p.Q80del ENST00000374690 1/8 NA NA NA NA NA NA AR,inframe_deletion,p.Gln80del,ENST00000374690,NM_000044.6,NM_001011645.3;AR,inframe_deletion,p.Gln80del,ENST00000504326,NM_001348061.1;AR,inframe_deletion,p.Gln80del,ENST00000396044,;AR,non_coding_transcript_exon_variant,,ENST00000513847,NM_001348063.1;AR,inframe_deletion,p.Gln80del,ENST00000612452,;AR,inframe_deletion,p.Gln80del,ENST00000514029,;AR,inframe_deletion,p.Gln80del,ENST00000613054,NM_001348064.1;AR,upstream_gene_variant,,ENST00000396043,;,regulatory_region_variant,,ENSR00000246918,; - ENSG00000169083 ENST00000374690 Transcript inframe_deletion 1297-1299/10667 171-173/2763 57-58/920 LQ/L ctGCAg/ctg rs3032358 1 NA 1 AR HGNC HGNC:644 protein_coding YES CCDS14387.1 ENSP00000363822 P10275.280 UPI0000167B08 NM_000044.6,NM_001011645.3 1/8 Low_complexity_(Seg):seg,Low_complexity_(Seg):seg,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite,Coiled-coils_(Ncoils):Coil,Pfam:PF02166,PANTHER:PTHR24084,PANTHER:PTHR24084:SF6 NA NA NA NA NA NA NA NA NA 21493872,28024997,28232919,18503826,19230916,18252782,11436124 NA NA NA NA MODERATE 1 sequence_alteration 1 NA 1 NA 1 . CTGCAG . 557.1 NA NA NA NA NA NA NA NA NA 67545316 EDA 1896 . GRCh38 chrX 70035483 70035483 + Silent SNP C C T rs141105955 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1050C>T p.Gly350= p.G350= ENST00000374552 8/8 NA NA NA NA NA NA EDA,synonymous_variant,p.Gly348=,ENST00000374553,NM_001005609.2;EDA,synonymous_variant,p.Gly350=,ENST00000374552,NM_001399.5;EDA,synonymous_variant,p.Gly218=,ENST00000616899,;EDA,synonymous_variant,p.Gly345=,ENST00000524573,NM_001005612.3;EDA,downstream_gene_variant,,ENST00000503592,;AL158141.1,downstream_gene_variant,,ENST00000651174,; T ENSG00000158813 ENST00000374552 Transcript synonymous_variant 1246/5235 1050/1176 350/391 G ggC/ggT rs141105955 1 NA 1 EDA HGNC HGNC:3157 protein_coding YES CCDS14394.1 ENSP00000363680 Q92838.198 UPI0000052244 NM_001399.5 8/8 PDB-ENSP_mappings:1rj7.A,PDB-ENSP_mappings:1rj7.B,PDB-ENSP_mappings:1rj7.D,PDB-ENSP_mappings:1rj7.E,PDB-ENSP_mappings:1rj7.F,PDB-ENSP_mappings:1rj7.G,PDB-ENSP_mappings:1rj7.H,PDB-ENSP_mappings:1rj7.I,PDB-ENSP_mappings:1rj7.J,PDB-ENSP_mappings:1rj7.K,PDB-ENSP_mappings:1rj7.L,PDB-ENSP_mappings:1rj7.M,PDB-ENSP_mappings:1rj8.A,PDB-ENSP_mappings:1rj8.B,PDB-ENSP_mappings:1rj8.D,PDB-ENSP_mappings:1rj8.E,PDB-ENSP_mappings:1rj8.F,PDB-ENSP_mappings:1rj8.G,PROSITE_profiles:PS50049,PANTHER:PTHR15151,PANTHER:PTHR15151:SF13,Gene3D:2.60.120.40,Pfam:PF00229,Superfamily:SSF49842 NA NA NA NA NA NA NA NA 0.0002973 NA NA NA NA LOW 1 SNV 1 NA NA 1 . GCG . 4182.6 1.642e-05 NA NA NA NA NA 3.691e-05 NA NA 70035483 ZMYM3 9203 . GRCh38 chrX 71253004 71253004 + Frame_Shift_Del DEL C C - novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.252del p.Leu85CysfsTer28 p.L85Cfs*28 ENST00000373988 2/25 NA NA NA NA NA NA ZMYM3,frameshift_variant,p.Leu85CysfsTer28,ENST00000373998,NM_001171162.1;ZMYM3,frameshift_variant,p.Leu85CysfsTer28,ENST00000373988,;ZMYM3,frameshift_variant,p.Leu85CysfsTer28,ENST00000314425,NM_005096.3,NM_201599.3;ZMYM3,frameshift_variant,p.Leu85CysfsTer28,ENST00000373984,;ZMYM3,frameshift_variant,p.Leu85CysfsTer28,ENST00000373982,;ZMYM3,frameshift_variant,p.Leu85CysfsTer28,ENST00000373981,NM_001171163.1;ZMYM3,frameshift_variant,p.Leu85CysfsTer28,ENST00000373978,;NONO,upstream_gene_variant,,ENST00000677446,;ZMYM3,non_coding_transcript_exon_variant,,ENST00000489332,;,regulatory_region_variant,,ENSR00000247121,;,regulatory_region_variant,,ENSR00000908886,; - ENSG00000147130 ENST00000373988 Transcript frameshift_variant 864/6021 252/4119 84/1372 G/X ggG/gg 1 NA -1 ZMYM3 HGNC HGNC:13054 protein_coding YES ENSP00000363100 A6NHB5.90 UPI000013F814 2/25 PANTHER:PTHR45736,PANTHER:PTHR45736:SF3,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 5 NA NA 1 . AGCC . 2866.6 NA NA NA NA NA NA NA NA NA 71253003 TAF1 6872 . GRCh38 chrX 71393434 71393434 + Missense_Mutation SNP G G T NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3185G>T p.Arg1062Leu p.R1062L ENST00000423759 21/38 NA NA NA NA NA NA TAF1,missense_variant,p.Arg1041Leu,ENST00000373790,NM_138923.4;TAF1,missense_variant,p.Arg1062Leu,ENST00000423759,NM_001286074.2,NM_004606.5;TAF1,upstream_gene_variant,,ENST00000276072,;TAF1,upstream_gene_variant,,ENST00000483985,;TAF1,downstream_gene_variant,,ENST00000474917,;TAF1,downstream_gene_variant,,ENST00000478305,;,regulatory_region_variant,,ENSR00000908909,;,TF_binding_site_variant,,ENSM00206936518,;,TF_binding_site_variant,,ENSM00206910290,; T ENSG00000147133 ENST00000423759 Transcript missense_variant 3203/7599 3185/5622 1062/1873 R/L cGt/cTt COSV52108677 1 NA 1 TAF1 HGNC HGNC:11535 protein_coding YES ENSP00000406549 P21675.221 UPI000F517936 NM_001286074.2,NM_004606.5 deleterious(0) possibly_damaging(0.579) 21/38 Coiled-coils_(Ncoils):Coil,PIRSF:PIRSF003047,PANTHER:PTHR13900,PANTHER:PTHR13900:SF1 NA NA NA NA NA NA NA NA NA 1 NA NA NA NA MODERATE 1 SNV 5 NA 1 NA 1 . CGT . 2709.6 NA NA NA NA NA NA NA NA NA 71393434 RTL5 340526 . GRCh38 chrX 72129898 72129898 + Frame_Shift_Del DEL G G - NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1643del p.Pro548LeufsTer52 p.P548Lfs*52 ENST00000609883 1/1 NA NA NA NA NA NA RTL5,frameshift_variant,p.Pro548LeufsTer52,ENST00000609883,NM_001024455.4;NHSL2,intron_variant,,ENST00000631375,;NHSL2,intron_variant,,ENST00000632230,;NHSL2,intron_variant,,ENST00000633930,NM_001013627.2;NHSL2,upstream_gene_variant,,ENST00000510661,;NHSL2,upstream_gene_variant,,ENST00000639939,;NHSL2,intron_variant,,ENST00000631833,;RTL5,frameshift_variant,p.Pro548LeufsTer52,ENST00000479991,;NHSL2,upstream_gene_variant,,ENST00000373677,; - ENSG00000242732 ENST00000609883 Transcript frameshift_variant 1931/4105 1643/1710 548/569 P/X cCt/ct COSV101030286 1 NA -1 RTL5 HGNC HGNC:29430 protein_coding YES CCDS55446.1 ENSP00000476792 Q5HYW3.108 UPI00001C2079 NM_001024455.4 1/1 PANTHER:PTHR15503:SF2,PANTHER:PTHR15503 NA NA NA NA NA NA NA NA NA 1 NA NA NA NA HIGH NA deletion NA NA 1 NA NA . CAGG . 7019.6 NA NA NA NA NA NA NA NA NA 72129897 RTL5 340526 . GRCh38 chrX 72131347 72131347 + Missense_Mutation SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.194C>T p.Ala65Val p.A65V ENST00000609883 1/1 NA NA NA NA NA NA RTL5,missense_variant,p.Ala65Val,ENST00000609883,NM_001024455.4;NHSL2,intron_variant,,ENST00000631375,;NHSL2,intron_variant,,ENST00000632230,;NHSL2,intron_variant,,ENST00000633930,NM_001013627.2;NHSL2,upstream_gene_variant,,ENST00000510661,;NHSL2,upstream_gene_variant,,ENST00000639939,;NHSL2,intron_variant,,ENST00000631833,;RTL5,missense_variant,p.Ala65Val,ENST00000479991,;NHSL2,upstream_gene_variant,,ENST00000373677,;,regulatory_region_variant,,ENSR00001161182,; A ENSG00000242732 ENST00000609883 Transcript missense_variant 482/4105 194/1710 65/569 A/V gCg/gTg 1 NA -1 RTL5 HGNC HGNC:29430 protein_coding YES CCDS55446.1 ENSP00000476792 Q5HYW3.108 UPI00001C2079 NM_001024455.4 deleterious_low_confidence(0) benign(0.059) 1/1 PANTHER:PTHR15503:SF2,PANTHER:PTHR15503 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE NA SNV NA NA NA NA . CGC . 7791.6 NA NA NA NA NA NA NA NA NA 72131347 FAM236C 0 . GRCh38 chrX 72912985 72912985 + Silent SNP C C T rs6647382 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.102C>T p.Thr34= p.T34= ENST00000636267 2/3 NA NA NA NA NA NA FAM236C,synonymous_variant,p.Thr34=,ENST00000636267,NM_001351111.1;FAM236C,synonymous_variant,p.Thr30=,ENST00000636532,NM_001351112.1;DMRTC1,intron_variant,,ENST00000615063,;DMRTC1,intron_variant,,ENST00000622727,; T ENSG00000283594 ENST00000636267 Transcript synonymous_variant 202/463 102/240 34/79 T acC/acT rs6647382 1 NA 1 FAM236C HGNC HGNC:52641 protein_coding YES CCDS87763.1 ENSP00000490543 P0DP71.16 UPI0007E52D72 NM_001351111.1 2/3 MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 5 NA NA NA . CCG . 3660.6 NA NA NA NA NA NA NA NA NA 72912985 FAM236C 0 . GRCh38 chrX 72913261 72913261 + Missense_Mutation SNP C C T rs1416022926 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.223C>T p.Arg75Trp p.R75W ENST00000636267 3/3 NA NA NA NA NA NA FAM236C,missense_variant,p.Arg75Trp,ENST00000636267,NM_001351111.1;FAM236C,missense_variant,p.Arg71Trp,ENST00000636532,NM_001351112.1;DMRTC1,intron_variant,,ENST00000615063,;DMRTC1,intron_variant,,ENST00000622727,; T ENSG00000283594 ENST00000636267 Transcript missense_variant 323/463 223/240 75/79 R/W Cgg/Tgg rs1416022926 1 NA 1 FAM236C HGNC HGNC:52641 protein_coding YES CCDS87763.1 ENSP00000490543 P0DP71.16 UPI0007E52D72 NM_001351111.1 tolerated_low_confidence(0.1) possibly_damaging(0.675) 3/3 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA NA . CCG . 17894.6 NA NA NA NA NA NA NA NA NA 72913261 ZDHHC15 158866 . GRCh38 chrX 75424780 75424781 + Frame_Shift_Ins INS - - C novel NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.607dup p.Glu203GlyfsTer8 p.E203Gfs*8 ENST00000373367 8/12 NA NA NA NA NA NA ZDHHC15,frameshift_variant,p.Glu194GlyfsTer8,ENST00000541184,NM_001146256.1;ZDHHC15,frameshift_variant,p.Glu203GlyfsTer8,ENST00000373367,NM_144969.3; C ENSG00000102383 ENST00000373367 Transcript frameshift_variant 620-621/5578 607-608/1014 203/337 E/GX gaa/gGaa 1 NA -1 ZDHHC15 HGNC HGNC:20342 protein_coding YES CCDS14430.1 ENSP00000362465 Q96MV8.144 UPI000006DB5A NM_144969.3 8/12 PANTHER:PTHR22883,PANTHER:PTHR22883:SF14,Pfam:PF01529 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 insertion 1 NA NA 1 . TTC . 1248.64 NA NA NA NA NA NA NA NA NA 75424780 FGF16 0 . GRCh38 chrX 77447842 77447842 + Silent SNP A A G rs1054967228 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.168A>G p.Leu56= p.L56= ENST00000439435 1/3 NA NA NA NA NA NA FGF16,synonymous_variant,p.Leu56=,ENST00000439435,NM_003868.3;,regulatory_region_variant,,ENSR00000247316,; G ENSG00000196468 ENST00000439435 Transcript synonymous_variant 454/1666 168/624 56/207 L ctA/ctG rs1054967228 1 NA 1 FGF16 HGNC HGNC:3672 protein_coding YES CCDS75996.1 ENSP00000399324 O43320.149 UPI00000374B2 NM_003868.3 1/3 Gene3D:2.80.10.50,PANTHER:PTHR11486,PANTHER:PTHR11486:SF27,Superfamily:SSF50353 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . TAA . 10175.03 NA NA NA NA NA NA NA NA NA 77447842 PGAM4 441531 . GRCh38 chrX 77969400 77969400 + Missense_Mutation SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.239C>T p.Pro80Leu p.P80L ENST00000458128 1/1 NA NA NA NA NA NA PGAM4,missense_variant,p.Pro80Leu,ENST00000458128,NM_001029891.3;ATP7A,intron_variant,,ENST00000341514,NM_000052.7;ATP7A,intron_variant,,ENST00000343533,NM_001282224.1;ATP7A,intron_variant,,ENST00000642651,;PGK1,intron_variant,,ENST00000644362,;ATP7A,intron_variant,,ENST00000645454,;AL356235.1,downstream_gene_variant,,ENST00000602791,;ATP7A,intron_variant,,ENST00000645094,; A ENSG00000226784 ENST00000458128 Transcript missense_variant 239/1690 239/765 80/254 P/L cCa/cTa 1 NA -1 PGAM4 HGNC HGNC:21731 protein_coding YES CCDS35338.1 ENSP00000412189 Q8N0Y7.147 UPI0000131CD2 NM_001029891.3 deleterious(0) benign(0.353) 1/1 HAMAP:MF_01039,CDD:cd07067,PANTHER:PTHR11931,PANTHER:PTHR11931:SF14,Pfam:PF00300,TIGRFAM:TIGR01258,Gene3D:3.40.50.1240,SMART:SM00855,Superfamily:SSF53254 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE NA SNV NA NA NA NA . TGG . 4884.6 NA NA NA NA NA NA NA NA NA 77969400 DIAPH2 1730 . GRCh38 chrX 96948981 96948981 + Frame_Shift_Del DEL A A - novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1582del p.Arg528GlufsTer40 p.R528Efs*40 ENST00000373054 16/28 NA NA NA NA NA NA DIAPH2,frameshift_variant,p.Arg521GlufsTer40,ENST00000324765,NM_006729.5;DIAPH2,frameshift_variant,p.Arg521GlufsTer40,ENST00000373061,;DIAPH2,frameshift_variant,p.Arg521GlufsTer40,ENST00000355827,;DIAPH2,frameshift_variant,p.Arg521GlufsTer40,ENST00000373049,NM_007309.3;DIAPH2,frameshift_variant,p.Arg528GlufsTer40,ENST00000373054,;NDUFB5P2,downstream_gene_variant,,ENST00000398690,; - ENSG00000147202 ENST00000373054 Transcript frameshift_variant 1619/3376 1577/3312 526/1103 Q/X cAa/ca 1 NA 1 DIAPH2 HGNC HGNC:2877 protein_coding YES ENSP00000362145 C9J6U3.90 UPI000206580C 16/28 Coiled-coils_(Ncoils):Coil,PANTHER:PTHR45691,PANTHER:PTHR45691:SF3 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 5 5 NA 1 . TCAA . 986.6 NA NA NA NA NA NA NA NA NA 96948980 PCDH19 57526 . GRCh38 chrX 100407100 100407100 + Missense_Mutation SNP T T C novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1498A>G p.Met500Val p.M500V ENST00000373034 1/6 NA NA NA NA NA NA PCDH19,missense_variant,p.Met500Val,ENST00000373034,NM_001184880.2;PCDH19,missense_variant,p.Met500Val,ENST00000255531,NM_001105243.2;PCDH19,missense_variant,p.Met500Val,ENST00000420881,NM_020766.3;PCDH19,upstream_gene_variant,,ENST00000636150,;,regulatory_region_variant,,ENSR00000911354,; C ENSG00000165194 ENST00000373034 Transcript missense_variant 3174/9756 1498/3447 500/1148 M/V Atg/Gtg 1 NA -1 PCDH19 HGNC HGNC:14270 protein_coding YES CCDS55462.1 ENSP00000362125 Q8TAB3.164 UPI00001D7BCD NM_001184880.2 tolerated(0.27) probably_damaging(0.976) 1/6 Gene3D:2.60.40.60,Pfam:PF00028,PROSITE_profiles:PS50268,PANTHER:PTHR24028,PANTHER:PTHR24028:SF40,SMART:SM00112,Superfamily:SSF49313,CDD:cd11304 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . ATG . 9376.6 NA NA NA NA NA NA NA NA NA 100407100 TCP11X2 100996648 . GRCh38 chrX 102463249 102463249 + Missense_Mutation SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.806G>A p.Ser269Asn p.S269N ENST00000642911 7/10 NA NA NA NA NA NA TCP11X2,missense_variant,p.Ser269Asn,ENST00000642911,NM_001277423.1;AC235565.2,missense_variant,p.Ser9Asn,ENST00000618881,;TCP11X2,missense_variant,p.Ser269Asn,ENST00000672117,;AC235565.2,3_prime_UTR_variant,,ENST00000429905,;TCP11X2,3_prime_UTR_variant,,ENST00000645197,;TCP11X2,3_prime_UTR_variant,,ENST00000643059,;TCP11X2,non_coding_transcript_exon_variant,,ENST00000462555,;AC235565.2,upstream_gene_variant,,ENST00000618302,; T ENSG00000215029 ENST00000642911 Transcript missense_variant 887/1590 806/1509 269/502 S/N aGc/aAc 1 NA -1 TCP11X2 HGNC HGNC:48335 protein_coding YES ENSP00000496057 A0A2R8YGI6.10 UPI0000EE7DED NM_001277423.1 tolerated(0.18) benign(0.085) 7/10 Pfam:PF05794,PANTHER:PTHR12832,PANTHER:PTHR12832:SF21,Low_complexity_(Seg):seg NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE NA SNV NA NA NA NA . GCT . 4076.6 NA NA NA NA NA NA NA NA NA 102463249 CLDN2 9075 . GRCh38 chrX 106928338 106928338 + Missense_Mutation SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.110G>A p.Gly37Asp p.G37D ENST00000336803 2/2 NA NA NA NA NA NA CLDN2,missense_variant,p.Gly37Asp,ENST00000336803,NM_020384.4;CLDN2,missense_variant,p.Gly37Asp,ENST00000540876,NM_001171095.1;CLDN2,missense_variant,p.Gly37Asp,ENST00000541806,NM_001171092.1;MORC4,intron_variant,,ENST00000604604,; A ENSG00000165376 ENST00000336803 Transcript missense_variant 436/2959 110/693 37/230 G/D gGt/gAt 1 NA 1 CLDN2 HGNC HGNC:2041 protein_coding YES CCDS14524.1 ENSP00000336571 P57739.161 UPI0000001BF3 NM_020384.4 deleterious(0.02) probably_damaging(0.973) 2/2 Gene3D:1.20.140.150,Pfam:PF00822,PANTHER:PTHR12002,PANTHER:PTHR12002:SF110 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 2 NA NA NA . GGT . 2865.6 NA NA NA NA NA NA NA NA NA 106928338 CLDN2 9075 . GRCh38 chrX 106928784 106928784 + Missense_Mutation SNP T T C novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.556T>C p.Ser186Pro p.S186P ENST00000336803 2/2 NA NA NA NA NA NA CLDN2,missense_variant,p.Ser186Pro,ENST00000336803,NM_020384.4;CLDN2,missense_variant,p.Ser186Pro,ENST00000540876,NM_001171095.1;CLDN2,missense_variant,p.Ser186Pro,ENST00000541806,NM_001171092.1;MORC4,intron_variant,,ENST00000604604,; C ENSG00000165376 ENST00000336803 Transcript missense_variant 882/2959 556/693 186/230 S/P Tca/Cca 1 NA 1 CLDN2 HGNC HGNC:2041 protein_coding YES CCDS14524.1 ENSP00000336571 P57739.161 UPI0000001BF3 NM_020384.4 tolerated(0.9) benign(0) 2/2 Gene3D:1.20.140.150,PANTHER:PTHR12002,PANTHER:PTHR12002:SF110 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 2 NA NA NA . CTC . 2532.6 NA NA NA NA NA NA NA NA NA 106928784 MORC4 79710 . GRCh38 chrX 106942516 106942516 + Missense_Mutation SNP T T C novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2375A>G p.Lys792Arg p.K792R ENST00000355610 15/17 NA NA NA NA NA NA MORC4,missense_variant,p.Lys792Arg,ENST00000355610,NM_024657.5;MORC4,missense_variant,p.Lys792Arg,ENST00000255495,NM_001085354.3;MORC4,intron_variant,,ENST00000604604,;MORC4,splice_region_variant,,ENST00000478924,; C ENSG00000133131 ENST00000355610 Transcript missense_variant,splice_region_variant 2618/3798 2375/2814 792/937 K/R aAg/aGg 1 NA -1 MORC4 HGNC HGNC:23485 protein_coding YES CCDS14525.2 ENSP00000347821 Q8TE76.143 UPI00003E75D3 NM_024657.5 deleterious(0.01) probably_damaging(0.98) 15/17 Coiled-coils_(Ncoils):Coil,PANTHER:PTHR23336:SF22,PANTHER:PTHR23336 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CTT . 1911.6 NA NA NA NA NA NA NA NA NA 106942516 COL4A6 1288 . GRCh38 chrX 108183752 108183753 + In_Frame_Ins INS - - CTT rs146680910 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1971_1972insAAG p.Glu657_Val658insLys p.E657_V658insK ENST00000394872 24/46 NA NA NA NA NA NA COL4A6,inframe_insertion,p.Glu657_Val658insLys,ENST00000394872,NM_001287758.1;COL4A6,intron_variant,,ENST00000334504,NM_033641.4;COL4A6,intron_variant,,ENST00000372216,NM_001847.4;COL4A6,intron_variant,,ENST00000538570,NM_001287760.1;COL4A6,intron_variant,,ENST00000545689,;COL4A6,intron_variant,,ENST00000621266,NM_001287759.1; CTT ENSG00000197565 ENST00000394872 Transcript inframe_insertion 2205-2206/6750 1971-1972/5124 657-658/1707 -/K -/AAG rs146680910 1 NA -1 COL4A6 HGNC HGNC:2208 protein_coding YES CCDS76010.1 ENSP00000378340 A8MXH5.95 UPI000387C996 NM_001287758.1 24/46 PANTHER:PTHR24023,PANTHER:PTHR24023:SF588 NA 0.6291 0.4752 NA 0.3626 0.7676 0.5808 NA NA NA NA NA NA MODERATE 1 insertion 5 NA NA 1 . ACC . 8018.06 NA NA NA NA NA NA NA NA NA 108183752 IRS4 8471 . GRCh38 chrX 108735906 108735906 + Missense_Mutation SNP C C T NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.439G>A p.Val147Met p.V147M ENST00000372129 1/1 NA NA NA NA NA NA IRS4,missense_variant,p.Val147Met,ENST00000372129,NM_003604.2;AL035425.2,upstream_gene_variant,,ENST00000563887,NM_001379150.1;AL035425.1,upstream_gene_variant,,ENST00000436013,;AL035425.1,upstream_gene_variant,,ENST00000608811,;AL035425.1,upstream_gene_variant,,ENST00000656850,;AL035425.1,upstream_gene_variant,,ENST00000664433,;AL035425.1,upstream_gene_variant,,ENST00000668534,;,regulatory_region_variant,,ENSR00000247916,; T ENSG00000133124 ENST00000372129 Transcript missense_variant 504/3928 439/3774 147/1257 V/M Gtg/Atg COSV100929815 1 NA -1 IRS4 HGNC HGNC:6128 protein_coding YES CCDS14544.1 ENSP00000361202 O14654.171 UPI0000073FE7 NM_003604.2 deleterious(0) probably_damaging(0.991) 1/1 Gene3D:2.30.29.30,PROSITE_profiles:PS50003,PANTHER:PTHR10614,PANTHER:PTHR10614:SF2,SMART:SM00233,Superfamily:SSF50729,CDD:cd01257 NA NA NA NA NA NA NA NA NA 1 NA NA NA NA MODERATE NA SNV NA NA 1 NA 1 . ACG . 4095.6 NA NA NA NA NA NA NA NA NA 108735906 CHRDL1 91851 . GRCh38 chrX 110700667 110700667 + Missense_Mutation SNP G G A NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.596C>T p.Ala199Val p.A199V ENST00000372042 7/12 NA NA NA NA NA NA CHRDL1,missense_variant,p.Ala199Val,ENST00000372042,NM_001367208.1,NM_001367206.1,NM_001143981.2,NM_001367205.1,NM_001367209.1,NM_001367204.1;CHRDL1,missense_variant,p.Ala192Val,ENST00000372045,;CHRDL1,missense_variant,p.Ala198Val,ENST00000394797,NM_145234.4;CHRDL1,missense_variant,p.Ala198Val,ENST00000444321,NM_001367207.1,NM_001143982.2;CHRDL1,missense_variant,p.Ala119Val,ENST00000482160,NM_001143983.3; A ENSG00000101938 ENST00000372042 Transcript missense_variant 704/3860 596/1377 199/458 A/V gCc/gTc COSV99487604 1 NA -1 CHRDL1 HGNC HGNC:29861 protein_coding YES CCDS48149.1 ENSP00000361112 Q9BU40.147 UPI0000367765 NM_001367208.1,NM_001367206.1,NM_001143981.2,NM_001367205.1,NM_001367209.1,NM_001367204.1 tolerated(0.16) probably_damaging(0.978) 7/12 PANTHER:PTHR46303,PANTHER:PTHR46303:SF2 NA NA NA NA NA NA NA NA NA 1 NA NA NA NA MODERATE 1 SNV 2 NA 1 NA 1 . GGC . 1148.6 NA NA NA NA NA NA NA NA NA 110700667 ALG13 79868 . GRCh38 chrX 111720104 111720104 + Silent SNP G G A rs376897522 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1260G>A p.Glu420= p.E420= ENST00000394780 11/27 NA NA NA NA NA NA ALG13,synonymous_variant,p.Glu342=,ENST00000610588,NM_001257231.1;ALG13,synonymous_variant,p.Glu420=,ENST00000394780,NM_001099922.3,NM_001324292.2;ALG13,synonymous_variant,p.Glu316=,ENST00000251943,NM_001257237.1,NM_001324293.1;ALG13,synonymous_variant,p.Glu316=,ENST00000621367,NM_001257234.1,NM_001257230.2;ALG13,synonymous_variant,p.Glu316=,ENST00000436609,;ALG13,synonymous_variant,p.Glu74=,ENST00000623622,;ALG13,non_coding_transcript_exon_variant,,ENST00000490774,;ALG13,3_prime_UTR_variant,,ENST00000624161,;ALG13,3_prime_UTR_variant,,ENST00000623144,;ALG13,3_prime_UTR_variant,,ENST00000623148,;ALG13,3_prime_UTR_variant,,ENST00000636363,;ALG13,3_prime_UTR_variant,,ENST00000495283,;ALG13,intron_variant,,ENST00000470971,;,regulatory_region_variant,,ENSR00000342906,; A ENSG00000101901 ENST00000394780 Transcript synonymous_variant 1309/4113 1260/3414 420/1137 E gaG/gaA rs376897522 1 NA 1 ALG13 HGNC HGNC:30881 protein_coding YES CCDS55477.1 ENSP00000378260 Q9NP73.157 UPI0000E5AFF9 NM_001099922.3,NM_001324292.2 11/27 PANTHER:PTHR12867,PANTHER:PTHR12867:SF7 NA NA NA NA NA NA NA 0.0003807 NA NA NA NA NA LOW 1 SNV 2 NA NA 1 . AGT . 1834.6 NA NA NA NA NA NA NA NA NA 111720104 IL13RA2 3598 . GRCh38 chrX 115007972 115007972 + Silent SNP G G A rs199568621 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.957C>T p.Asp319= p.D319= ENST00000371936 9/11 NA NA NA NA NA NA IL13RA2,synonymous_variant,p.Asp319=,ENST00000371936,;IL13RA2,synonymous_variant,p.Asp319=,ENST00000243213,NM_000640.3; A ENSG00000123496 ENST00000371936 Transcript synonymous_variant 1207/1498 957/1143 319/380 D gaC/gaT rs199568621 1 NA -1 IL13RA2 HGNC HGNC:5975 protein_coding YES CCDS14565.1 ENSP00000361004 Q14627.189 UPI000002E794 9/11 PDB-ENSP_mappings:3lb6.C,PDB-ENSP_mappings:3lb6.D,PROSITE_profiles:PS50853,PANTHER:PTHR23036:SF101,PANTHER:PTHR23036,Gene3D:2.60.40.10,Superfamily:SSF49265 NA NA NA NA NA NA NA NA 0.0002973 NA NA NA NA LOW 1 SNV 5 NA NA NA . CGT . 1952.6 0.0001033 NA NA NA NA NA 0.0002032 0.0002379 5.71e-05 115007972 RBMXL3 139804 . GRCh38 chrX 115190618 115190619 + In_Frame_Ins INS - - GAGGCCGCTCGCCCAACGCCCACAGCG rs782097222 NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1191_1192insAACGCCCACAGCGGAGGCCGCTCGCCC p.Pro397_Asp398insAsnAlaHisSerGlyGlyArgSerPro p.P397_D398insNAHSGGRSP ENST00000424776 1/1 NA NA NA NA NA NA RBMXL3,inframe_insertion,p.Pro397_Asp398insAsnAlaHisSerGlyGlyArgSerPro,ENST00000424776,NM_001145346.2;LRCH2,intron_variant,,ENST00000317135,NM_020871.4;LRCH2,intron_variant,,ENST00000538422,NM_001243963.1; GAGGCCGCTCGCCCAACGCCCACAGCG ENSG00000175718 ENST00000424776 Transcript inframe_insertion 1209-1210/3459 1177-1178/3204 393/1067 R/RGRSPNAHSG aga/aGAGGCCGCTCGCCCAACGCCCACAGCGga rs782097222 1 NA 1 RBMXL3 HGNC HGNC:26859 protein_coding YES CCDS55478.1 ENSP00000417451 Q8N7X1.112 UPI0001932819 NM_001145346.2 1/1 PANTHER:PTHR15241,PANTHER:PTHR15241:SF55,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA 0.7448 0.9714 NA 0.9777 0.9961 0.9791 0.7656 0.9827 29267878 NA NA NA NA MODERATE NA insertion NA 14 NA NA . CAG . 13608.06 NA NA NA NA NA NA NA NA NA 115190618 RBMXL3 139804 . GRCh38 chrX 115191904 115191904 + Missense_Mutation SNP C C G novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2463C>G p.Asn821Lys p.N821K ENST00000424776 1/1 NA NA NA NA NA NA RBMXL3,missense_variant,p.Asn821Lys,ENST00000424776,NM_001145346.2;LRCH2,intron_variant,,ENST00000317135,NM_020871.4;LRCH2,intron_variant,,ENST00000538422,NM_001243963.1; G ENSG00000175718 ENST00000424776 Transcript missense_variant 2495/3459 2463/3204 821/1067 N/K aaC/aaG 1 NA 1 RBMXL3 HGNC HGNC:26859 protein_coding YES CCDS55478.1 ENSP00000417451 Q8N7X1.112 UPI0001932819 NM_001145346.2 deleterious_low_confidence(0.04) benign(0.092) 1/1 MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE NA SNV NA NA NA NA . ACC . 10246.6 NA NA NA NA NA NA NA NA NA 115191904 LUZP4 51213 . GRCh38 chrX 115306753 115306753 + Missense_Mutation SNP A A T rs1556604532 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.891A>T p.Gln297His p.Q297H ENST00000371920 4/4 NA NA NA NA NA NA LUZP4,missense_variant,p.Gln297His,ENST00000371920,NM_016383.5,NM_001318840.2;LUZP4,3_prime_UTR_variant,,ENST00000371921,; T ENSG00000102021 ENST00000371920 Transcript missense_variant 936/1746 891/942 297/313 Q/H caA/caT rs1556604532 1 NA 1 LUZP4 HGNC HGNC:24971 protein_coding YES CCDS14567.1 ENSP00000360988 Q9P127.113 UPI0000036093 NM_016383.5,NM_001318840.2 deleterious(0.01) benign(0.246) 4/4 PANTHER:PTHR22550,PANTHER:PTHR22550:SF5,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . AAT . 1384.6 5.47e-06 NA NA NA NA NA 1.228e-05 NA NA 115306753 SLC6A14 11254 . GRCh38 chrX 116444935 116444935 + Missense_Mutation SNP G G A NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.674G>A p.Arg225Gln p.R225Q ENST00000598581 6/14 NA NA NA NA NA NA SLC6A14,missense_variant,p.Arg225Gln,ENST00000598581,NM_007231.5; A ENSG00000268104 ENST00000598581 Transcript missense_variant 778/4536 674/1929 225/642 R/Q cGg/cAg COSV100903067,COSV100903147 1 NA 1 SLC6A14 HGNC HGNC:11047 protein_coding YES CCDS14570.1 ENSP00000470801 Q9UN76.157 UPI0000072E3C NM_007231.5 tolerated(0.56) benign(0.259) 6/14 Pfam:PF00209,PROSITE_profiles:PS50267,PANTHER:PTHR11616,PANTHER:PTHR11616:SF231,Superfamily:SSF161070,CDD:cd11501 NA NA NA NA NA NA NA NA NA 1,1 NA NA NA NA MODERATE 1 SNV 1 NA 1,1 NA NA . CGG . 2406.6 NA NA NA NA NA NA NA NA NA 116444935 NKAP 79576 . GRCh38 chrX 119925344 119925344 + Missense_Mutation SNP C C A novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1124G>T p.Ser375Ile p.S375I ENST00000371410 9/9 NA NA NA NA NA NA NKAP,missense_variant,p.Ser375Ile,ENST00000371410,NM_024528.4;NKAP,missense_variant,p.Ser374Ile,ENST00000652253,;AKAP14,downstream_gene_variant,,ENST00000334356,;AKAP14,downstream_gene_variant,,ENST00000371425,NM_001008534.1;AKAP14,downstream_gene_variant,,ENST00000371431,NM_178813.6;NKAP,non_coding_transcript_exon_variant,,ENST00000477789,;NKAP,upstream_gene_variant,,ENST00000455986,;NKAP,downstream_gene_variant,,ENST00000482407,;AKAP14,downstream_gene_variant,,ENST00000491105,; A ENSG00000101882 ENST00000371410 Transcript missense_variant 1270/5942 1124/1248 375/415 S/I aGt/aTt 1 NA -1 NKAP HGNC HGNC:29873 protein_coding YES CCDS14592.1 ENSP00000360464 Q8N5F7.141 UPI000004A07B NM_024528.4 deleterious(0) probably_damaging(0.995) 9/9 Pfam:PF06047,PANTHER:PTHR13087,PANTHER:PTHR13087:SF2 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . ACT . 2274.6 NA NA NA NA NA NA NA NA NA 119925344 TMEM255A 55026 . GRCh38 chrX 120285662 120285662 + Missense_Mutation SNP G G C rs199660806 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.458C>G p.Thr153Arg p.T153R ENST00000309720 6/10 NA NA NA NA NA NA TMEM255A,missense_variant,p.Thr153Arg,ENST00000309720,NM_017938.3;TMEM255A,intron_variant,,ENST00000371352,;TMEM255A,intron_variant,,ENST00000371369,NM_001104544.3;TMEM255A,intron_variant,,ENST00000440464,NM_001104545.1;TMEM255A,intron_variant,,ENST00000519908,; C ENSG00000125355 ENST00000309720 Transcript missense_variant 582/3394 458/1050 153/349 T/R aCg/aGg rs199660806 1 NA -1 TMEM255A HGNC HGNC:26086 protein_coding YES CCDS14597.1 ENSP00000310110 Q5JRV8.107 UPI0000246DA1 NM_017938.3 tolerated(0.4) benign(0) 6/10 Pfam:PF14967,PANTHER:PTHR33721,PANTHER:PTHR33721:SF1 NA NA NA NA NA NA NA NA 0.0002973 NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CGT . 3186.6 9.265e-05 NA NA NA NA NA 0.0002075 NA NA 120285662 DCAF12L2 340578 . GRCh38 chrX 126164636 126164636 + Missense_Mutation SNP G G A NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1289C>T p.Ala430Val p.A430V ENST00000360028 1/1 NA NA NA NA NA NA DCAF12L2,missense_variant,p.Ala430Val,ENST00000360028,NM_001013628.3; A ENSG00000198354 ENST00000360028 Transcript missense_variant 1654/2791 1289/1392 430/463 A/V gCg/gTg COSV63580722,COSV63582449,COSV63583358 1 NA -1 DCAF12L2 HGNC HGNC:32950 protein_coding YES CCDS43991.1 ENSP00000353128 Q5VW00.133 UPI0000197594 NM_001013628.3 deleterious(0) probably_damaging(0.918) 1/1 PANTHER:PTHR19860:SF8,PANTHER:PTHR19860 NA NA NA NA NA NA NA NA NA 1,1,1 NA NA NA NA MODERATE 1 SNV NA NA 1,1,1 NA 1 . CGC . 6041.6 NA NA NA NA NA NA NA NA NA 126164636 UTP14A 10813 . GRCh38 chrX 129911032 129911032 + Missense_Mutation SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.263C>T p.Ala88Val p.A88V ENST00000394422 5/15 NA NA NA NA NA NA UTP14A,missense_variant,p.Ala88Val,ENST00000394422,NM_006649.4;UTP14A,missense_variant,p.Ala88Val,ENST00000425117,NM_001166221.1;UTP14A,upstream_gene_variant,,ENST00000427972,;AL034405.1,intron_variant,,ENST00000432062,;AL034405.1,intron_variant,,ENST00000660217,;AL034405.1,intron_variant,,ENST00000670255,; T ENSG00000156697 ENST00000394422 Transcript missense_variant 310/2507 263/2316 88/771 A/V gCa/gTa 1 NA 1 UTP14A HGNC HGNC:10665 protein_coding YES CCDS14615.1 ENSP00000377944 Q9BVJ6.161 UPI0000072A7B NM_006649.4 deleterious(0) benign(0.087) 5/15 Pfam:PF04615,PANTHER:PTHR14150,PANTHER:PTHR14150:SF14 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . GCA . 1153.6 NA NA NA NA NA NA NA NA NA 129911032 BCORL1 63035 . GRCh38 chrX 130056036 130056036 + Frame_Shift_Del DEL C C - rs768244116 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.5042del p.Pro1681GlnfsTer20 p.P1681Qfs*20 ENST00000540052 12/12 NA NA NA NA NA NA BCORL1,frameshift_variant,p.Pro1681GlnfsTer20,ENST00000540052,NM_001184772.3;BCORL1,frameshift_variant,p.Pro1681GlnfsTer20,ENST00000218147,NM_001379450.1,NM_001379451.1,NM_021946.5;BCORL1,frameshift_variant,p.Pro1355GlnfsTer20,ENST00000456822,;,regulatory_region_variant,,ENSR00000914882,; - ENSG00000085185 ENST00000540052 Transcript frameshift_variant 5080/7127 5036/5136 1679/1711 S/X tCc/tc rs768244116 1 NA 1 BCORL1 HGNC HGNC:25657 protein_coding YES CCDS14616.1 ENSP00000437775 Q5H9F3.143 UPI0001D3414A NM_001184772.3 12/12 Gene3D:3.10.260.40,Pfam:PF16553,PANTHER:PTHR24117,PANTHER:PTHR24117:SF6,CDD:cd14260 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 6 NA 1 . ATCC . 4408.6 NA NA NA NA NA NA NA NA NA 130056035 ZNF280C 55609 . GRCh38 chrX 130230702 130230702 + Missense_Mutation SNP T T C novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.797A>G p.Lys266Arg p.K266R ENST00000370978 9/19 NA NA NA NA NA NA ZNF280C,missense_variant,p.Lys266Arg,ENST00000370978,NM_017666.5;ZNF280C,missense_variant,p.Lys266Arg,ENST00000447817,; C ENSG00000056277 ENST00000370978 Transcript missense_variant 951/4638 797/2214 266/737 K/R aAa/aGa 1 NA -1 ZNF280C HGNC HGNC:25955 protein_coding YES CCDS14622.1 ENSP00000360017 Q8ND82.150 UPI0000071981 NM_017666.5 deleterious(0.02) benign(0.039) 9/19 Gene3D:3.30.160.60,PANTHER:PTHR24388,PANTHER:PTHR24388:SF62 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . TTT . 1119.6 NA NA NA NA NA NA NA NA NA 130230702 STK26 51765 . GRCh38 chrX 132068529 132068529 + Missense_Mutation SNP T T C novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.623T>C p.Met208Thr p.M208T ENST00000481105 7/13 NA NA NA NA NA NA STK26,missense_variant,p.Met186Thr,ENST00000394334,NM_016542.4;STK26,missense_variant,p.Met186Thr,ENST00000354719,;STK26,missense_variant,p.Met109Thr,ENST00000394335,NM_001042453.2;STK26,missense_variant,p.Met208Thr,ENST00000481105,;STK26,missense_variant,p.Met186Thr,ENST00000496850,NM_001042452.2;,regulatory_region_variant,,ENSR00001163501,; C ENSG00000134602 ENST00000481105 Transcript missense_variant 839/1835 623/1317 208/438 M/T aTg/aCg 1 NA 1 STK26 HGNC HGNC:18174 protein_coding YES ENSP00000418753 B4E0Y9.109 UPI00017A84AC deleterious(0.02) probably_damaging(0.997) 7/13 PROSITE_profiles:PS50011,CDD:cd06640,PANTHER:PTHR24361,PANTHER:PTHR24361:SF609,Pfam:PF00069,Gene3D:1.10.510.10,SMART:SM00220,Superfamily:SSF56112 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 2 NA NA NA . ATG . 1431.6 NA NA NA NA NA NA NA NA NA 132068529 FHL1 2273 . GRCh38 chrX 136207820 136207820 + Silent SNP C C T rs755900253 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.360C>T p.Thr120= p.T120= ENST00000651089 6/9 NA NA NA NA NA NA FHL1,synonymous_variant,p.Thr120=,ENST00000543669,NM_001159704.1;FHL1,synonymous_variant,p.Thr120=,ENST00000651089,NM_001369326.1;FHL1,synonymous_variant,p.Thr120=,ENST00000394155,NM_001159702.3,NM_001369327.1,NM_001369328.1;FHL1,synonymous_variant,p.Thr120=,ENST00000651929,NM_001449.5,NM_001369329.1,NM_001369330.1;FHL1,synonymous_variant,p.Thr120=,ENST00000652457,;FHL1,synonymous_variant,p.Thr120=,ENST00000394153,NM_001167819.1;FHL1,synonymous_variant,p.Thr120=,ENST00000535737,;FHL1,synonymous_variant,p.Thr149=,ENST00000539015,NM_001159701.2;FHL1,synonymous_variant,p.Thr120=,ENST00000628568,NM_001369331.1;FHL1,synonymous_variant,p.Thr136=,ENST00000370683,NM_001159699.2;FHL1,synonymous_variant,p.Thr120=,ENST00000618438,NM_001159703.2;FHL1,synonymous_variant,p.Thr120=,ENST00000629039,;FHL1,synonymous_variant,p.Thr120=,ENST00000630084,NM_001159700.2;FHL1,synonymous_variant,p.Thr120=,ENST00000628919,;FHL1,synonymous_variant,p.Thr120=,ENST00000370674,;FHL1,synonymous_variant,p.Thr120=,ENST00000420362,;FHL1,synonymous_variant,p.Thr136=,ENST00000370676,NM_001330659.2;FHL1,synonymous_variant,p.Thr120=,ENST00000434885,;FHL1,synonymous_variant,p.Thr120=,ENST00000452016,;FHL1,synonymous_variant,p.Thr120=,ENST00000456445,;FHL1,synonymous_variant,p.Thr120=,ENST00000458357,;FHL1,synonymous_variant,p.Thr120=,ENST00000627578,;FHL1,synonymous_variant,p.Thr120=,ENST00000628032,;FHL1,synonymous_variant,p.Thr120=,ENST00000628443,;FHL1,synonymous_variant,p.Thr120=,ENST00000627383,;FHL1,synonymous_variant,p.Thr120=,ENST00000449474,;FHL1,downstream_gene_variant,,ENST00000625935,;FHL1,downstream_gene_variant,,ENST00000627812,;FHL1,downstream_gene_variant,,ENST00000630278,;FHL1,downstream_gene_variant,,ENST00000651256,;FHL1,downstream_gene_variant,,ENST00000652745,;FHL1,non_coding_transcript_exon_variant,,ENST00000630684,;FHL1,non_coding_transcript_exon_variant,,ENST00000626004,;FHL1,downstream_gene_variant,,ENST00000477080,;FHL1,downstream_gene_variant,,ENST00000477204,;FHL1,upstream_gene_variant,,ENST00000630677,; T ENSG00000022267 ENST00000651089 Transcript synonymous_variant 821/2801 360/972 120/323 T acC/acT rs755900253 1 NA 1 FHL1 HGNC HGNC:3702 protein_coding YES CCDS55507.1 ENSP00000498684 Q13642.201 UPI000007089A NM_001369326.1 6/9 Gene3D:2.10.110.10,Pfam:PF00412,PROSITE_patterns:PS00478,PROSITE_profiles:PS50023,PANTHER:PTHR47029,PANTHER:PTHR47029:SF2,SMART:SM00132,Superfamily:SSF57716,CDD:cd09424 NA NA NA NA NA NA NA NA NA uncertain_significance NA NA NA NA LOW 1 SNV NA NA 1 NA 1 . CCG . 3474.6 1.635e-05 NA NA NA NA 6.247e-05 2.441e-05 NA NA 136207820 MAP7D3 79649 . GRCh38 chrX 136225956 136225956 + Missense_Mutation SNP C C T NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2092G>A p.Glu698Lys p.E698K ENST00000316077 13/19 NA NA NA NA NA NA MAP7D3,missense_variant,p.Glu680Lys,ENST00000370663,NM_001173516.1;MAP7D3,missense_variant,p.Glu698Lys,ENST00000316077,NM_024597.4;MAP7D3,missense_variant,p.Glu663Lys,ENST00000370661,NM_001173517.1;MAP7D3,missense_variant,p.Glu657Lys,ENST00000370660,;MAP7D3,non_coding_transcript_exon_variant,,ENST00000495432,;MAP7D3,non_coding_transcript_exon_variant,,ENST00000489788,;MAP7D3,downstream_gene_variant,,ENST00000477124,; T ENSG00000129680 ENST00000316077 Transcript missense_variant 2134/4385 2092/2631 698/876 E/K Gag/Aag COSV60172847 1 NA -1 MAP7D3 HGNC HGNC:25742 protein_coding YES CCDS44004.1 ENSP00000318086 Q8IWC1.135 UPI00001C207C NM_024597.4 deleterious(0) probably_damaging(0.963) 13/19 Coiled-coils_(Ncoils):Coil,Pfam:PF05672,PANTHER:PTHR15073,PANTHER:PTHR15073:SF5 NA NA NA NA NA NA NA NA NA 1 NA NA NA NA MODERATE 1 SNV 1 NA 1 NA NA . TCG . 2693.6 NA NA NA NA NA NA NA NA NA 136225956 VGLL1 51442 . GRCh38 chrX 136536042 136536042 + Missense_Mutation SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.22G>A p.Ala8Thr p.A8T ENST00000370634 2/5 NA NA NA NA NA NA VGLL1,missense_variant,p.Ala8Thr,ENST00000370634,NM_016267.4;VGLL1,upstream_gene_variant,,ENST00000440515,;VGLL1,upstream_gene_variant,,ENST00000456412,; A ENSG00000102243 ENST00000370634 Transcript missense_variant 129/1144 22/777 8/258 A/T Gcc/Acc 1 NA 1 VGLL1 HGNC HGNC:20985 protein_coding YES CCDS14658.1 ENSP00000359668 Q99990.142 UPI0000071D9A NM_016267.4 tolerated(0.79) benign(0.017) 2/5 PANTHER:PTHR15950,PANTHER:PTHR15950:SF20 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . TGC . 1951.6 NA NA NA NA NA NA NA NA NA 136536042 ATP11C 286410 . GRCh38 chrX 139826802 139826810 + In_Frame_Del DEL CTCGTTTCT CTCGTTTCT - rs754325600 NA HCI-EC-23 NORMAL CTCGTTTCT CTCGTTTCT NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.50_58del p.Glu17_Arg19del p.E17_R19del ENST00000327569 2/30 NA NA NA NA NA NA ATP11C,inframe_deletion,p.Glu14_Arg16del,ENST00000370557,NM_001353810.2,NM_001353811.2;ATP11C,inframe_deletion,p.Glu17_Arg19del,ENST00000327569,NM_001353812.2,NM_173694.5;ATP11C,inframe_deletion,p.Glu17_Arg19del,ENST00000361648,NM_001010986.3;ATP11C,non_coding_transcript_exon_variant,,ENST00000485626,;,regulatory_region_variant,,ENSR00001164033,; - ENSG00000101974 ENST00000327569 Transcript inframe_deletion 149-157/6115 50-58/3399 17-20/1132 EKRV/V gAGAAACGAGtt/gtt rs754325600 1 NA -1 ATP11C HGNC HGNC:13554 protein_coding YES CCDS14668.1 ENSP00000332756 Q8NB49.166 UPI000036777E NM_001353812.2,NM_173694.5 2/30 PDB-ENSP_mappings:6lkn.A,PDB-ENSP_mappings:6lkn.E,PDB-ENSP_mappings:6lkn.I,PDB-ENSP_mappings:6lkn.M,PANTHER:PTHR24092,PANTHER:PTHR24092:SF38 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 deletion 1 NA NA 1 . AACTCGTTTCTC . 1859.6 8.871e-05 7.662e-05 NA NA NA NA 0.0001851 NA NA 139826801 SPANXB1 728695 . GRCh38 chrX 141003560 141003560 + Missense_Mutation SNP C C G rs878856926 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.220C>G p.Leu74Val p.L74V ENST00000449283 2/2 NA NA NA NA NA NA SPANXB1,missense_variant,p.Leu74Val,ENST00000449283,NM_032461.4; G ENSG00000227234 ENST00000449283 Transcript missense_variant 320/466 220/312 74/103 L/V Ctg/Gtg rs878856926 1 NA 1 SPANXB1 HGNC HGNC:14329 protein_coding YES CCDS44006.1 ENSP00000405202 Q9NS25.136 UPI000006E344 NM_032461.4 tolerated_low_confidence(1) benign(0) 2/2 Pfam:PF07458,PANTHER:PTHR23425,PANTHER:PTHR23425:SF16,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . GCT . 17706.6 NA NA NA NA NA NA NA NA NA 141003560 SPANXB1 728695 . GRCh38 chrX 141003596 141003596 + Missense_Mutation SNP G G C rs1218473051 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.256G>C p.Asp86His p.D86H ENST00000449283 2/2 NA NA NA NA NA NA SPANXB1,missense_variant,p.Asp86His,ENST00000449283,NM_032461.4; C ENSG00000227234 ENST00000449283 Transcript missense_variant 356/466 256/312 86/103 D/H Gac/Cac rs1218473051 1 NA 1 SPANXB1 HGNC HGNC:14329 protein_coding YES CCDS44006.1 ENSP00000405202 Q9NS25.136 UPI000006E344 NM_032461.4 deleterious_low_confidence(0) possibly_damaging(0.763) 2/2 Pfam:PF07458,PANTHER:PTHR23425,PANTHER:PTHR23425:SF16,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CGA . 658.6 NA NA NA NA NA NA NA NA NA 141003596 SPANXB1 728695 . GRCh38 chrX 141003597 141003597 + Missense_Mutation SNP A A T rs1341518559 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.257A>T p.Asp86Val p.D86V ENST00000449283 2/2 NA NA NA NA NA NA SPANXB1,missense_variant,p.Asp86Val,ENST00000449283,NM_032461.4; T ENSG00000227234 ENST00000449283 Transcript missense_variant 357/466 257/312 86/103 D/V gAc/gTc rs1341518559 1 NA 1 SPANXB1 HGNC HGNC:14329 protein_coding YES CCDS44006.1 ENSP00000405202 Q9NS25.136 UPI000006E344 NM_032461.4 tolerated_low_confidence(0.97) benign(0.058) 2/2 Pfam:PF07458,PANTHER:PTHR23425,PANTHER:PTHR23425:SF16,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . GAC . 658.6 NA NA NA NA NA NA NA NA NA 141003597 LDOC1 23641 . GRCh38 chrX 141176897 141176897 + Missense_Mutation SNP C C T NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.125G>A p.Arg42His p.R42H ENST00000370526 1/1 NA NA NA NA NA NA LDOC1,missense_variant,p.Arg42His,ENST00000370526,NM_012317.4;SPANXA2-OT1,upstream_gene_variant,,ENST00000662492,;SPANXA2-OT1,upstream_gene_variant,,ENST00000664367,;SPANXA2-OT1,upstream_gene_variant,,ENST00000665569,;SPANXA2-OT1,upstream_gene_variant,,ENST00000666172,;SPANXA2-OT1,upstream_gene_variant,,ENST00000666501,;LDOC1,non_coding_transcript_exon_variant,,ENST00000670989,;LDOC1,non_coding_transcript_exon_variant,,ENST00000460721,;,regulatory_region_variant,,ENSR00000249213,;,TF_binding_site_variant,,ENSM00522217312,; T ENSG00000182195 ENST00000370526 Transcript missense_variant 233/3895 125/441 42/146 R/H cGc/cAc COSV65159284 1 NA -1 LDOC1 HGNC HGNC:6548 protein_coding YES CCDS14672.1 ENSP00000359557 O95751.145 UPI00000373D3 NM_012317.4 tolerated(0.09) possibly_damaging(0.871) 1/1 PANTHER:PTHR15503,PANTHER:PTHR15503:SF6,Pfam:PF16297 NA NA NA NA NA NA NA NA NA 1 NA NA NA NA MODERATE 1 SNV NA NA 1 NA NA . GCG . 3793.6 NA NA NA NA NA NA NA NA NA 141176897 SPANXC 64663 . GRCh38 chrX 141241609 141241609 + Missense_Mutation SNP C C G rs3208371 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.202G>C p.Val68Leu p.V68L ENST00000358993 2/2 NA NA NA NA NA NA SPANXC,missense_variant,p.Val68Leu,ENST00000358993,NM_022661.4;SPANXA2-OT1,intron_variant,,ENST00000662492,; G ENSG00000198573 ENST00000358993 Transcript missense_variant 262/408 202/294 68/97 V/L Gtg/Ctg rs3208371 1 NA -1 SPANXC HGNC HGNC:14331 protein_coding YES CCDS14673.1 ENSP00000351884 Q9NY87.134 UPI0000071E21 NM_022661.4 tolerated_low_confidence(0.63) benign(0.001) 2/2 PANTHER:PTHR23425,PANTHER:PTHR23425:SF16,Pfam:PF07458 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . ACC . 5135.03 NA NA NA NA NA NA NA NA NA 141241609 SPANXC 64663 . GRCh38 chrX 141242387 141242387 + Missense_Mutation SNP A A G rs58874406 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.71T>C p.Met24Thr p.M24T ENST00000358993 1/2 NA NA NA NA NA NA SPANXC,missense_variant,p.Met24Thr,ENST00000358993,NM_022661.4;SPANXA2-OT1,intron_variant,,ENST00000662492,; G ENSG00000198573 ENST00000358993 Transcript missense_variant,splice_region_variant 131/408 71/294 24/97 M/T aTg/aCg rs58874406 1 NA -1 SPANXC HGNC HGNC:14331 protein_coding YES CCDS14673.1 ENSP00000351884 Q9NY87.134 UPI0000071E21 NM_022661.4 tolerated(0.34) benign(0) 1/2 MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite,PANTHER:PTHR23425,PANTHER:PTHR23425:SF16,Pfam:PF07458 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CAT . 2056.03 NA NA NA NA NA NA NA NA NA 141242387 SPANXC 64663 . GRCh38 chrX 141242392 141242392 + Silent SNP G G A rs59832140 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.66C>T p.Asn22= p.N22= ENST00000358993 1/2 NA NA NA NA NA NA SPANXC,synonymous_variant,p.Asn22=,ENST00000358993,NM_022661.4;SPANXA2-OT1,intron_variant,,ENST00000662492,; A ENSG00000198573 ENST00000358993 Transcript synonymous_variant 126/408 66/294 22/97 N aaC/aaT rs59832140 1 NA -1 SPANXC HGNC HGNC:14331 protein_coding YES CCDS14673.1 ENSP00000351884 Q9NY87.134 UPI0000071E21 NM_022661.4 1/2 MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite,PANTHER:PTHR23425,PANTHER:PTHR23425:SF16,Pfam:PF07458 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . CGT . 2281.03 NA NA NA NA NA NA NA NA NA 141242392 SPANXC 64663 . GRCh38 chrX 141242395 141242395 + Silent SNP G G C rs3180810 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.63C>G p.Ala21= p.A21= ENST00000358993 1/2 NA NA NA NA NA NA SPANXC,synonymous_variant,p.Ala21=,ENST00000358993,NM_022661.4;SPANXA2-OT1,intron_variant,,ENST00000662492,; C ENSG00000198573 ENST00000358993 Transcript synonymous_variant 123/408 63/294 21/97 A gcC/gcG rs3180810 1 NA -1 SPANXC HGNC HGNC:14331 protein_coding YES CCDS14673.1 ENSP00000351884 Q9NY87.134 UPI0000071E21 NM_022661.4 1/2 MobiDB_lite:mobidb-lite,PANTHER:PTHR23425,PANTHER:PTHR23425:SF16,Pfam:PF07458 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . TGG . 2347.03 NA NA NA NA NA NA NA NA NA 141242395 SPANXC 64663 . GRCh38 chrX 141242396 141242396 + Missense_Mutation SNP G G A rs3180809 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.62C>T p.Ala21Val p.A21V ENST00000358993 1/2 NA NA NA NA NA NA SPANXC,missense_variant,p.Ala21Val,ENST00000358993,NM_022661.4;SPANXA2-OT1,intron_variant,,ENST00000662492,; A ENSG00000198573 ENST00000358993 Transcript missense_variant 122/408 62/294 21/97 A/V gCc/gTc rs3180809 1 NA -1 SPANXC HGNC HGNC:14331 protein_coding YES CCDS14673.1 ENSP00000351884 Q9NY87.134 UPI0000071E21 NM_022661.4 tolerated(0.3) benign(0.001) 1/2 MobiDB_lite:mobidb-lite,PANTHER:PTHR23425,PANTHER:PTHR23425:SF16,Pfam:PF07458 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . GGC . 2347.03 NA NA NA NA NA NA NA NA NA 141242396 SPANXC 64663 . GRCh38 chrX 141242407 141242407 + Missense_Mutation SNP A A T rs3179143 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.51T>A p.Asp17Glu p.D17E ENST00000358993 1/2 NA NA NA NA NA NA SPANXC,missense_variant,p.Asp17Glu,ENST00000358993,NM_022661.4;SPANXA2-OT1,intron_variant,,ENST00000662492,; T ENSG00000198573 ENST00000358993 Transcript missense_variant 111/408 51/294 17/97 D/E gaT/gaA rs3179143 1 NA -1 SPANXC HGNC HGNC:14331 protein_coding YES CCDS14673.1 ENSP00000351884 Q9NY87.134 UPI0000071E21 NM_022661.4 tolerated(1) benign(0) 1/2 MobiDB_lite:mobidb-lite,PANTHER:PTHR23425,PANTHER:PTHR23425:SF16,Pfam:PF07458 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . AAT . 2169.03 NA NA NA NA NA NA NA NA NA 141242407 SPANXD 64648 . GRCh38 chrX 141697643 141697643 + Missense_Mutation SNP G G A rs145377089 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.116C>T p.Pro39Leu p.P39L ENST00000370515 2/2 NA NA NA NA NA NA SPANXD,missense_variant,p.Pro39Leu,ENST00000370515,NM_032417.4; A ENSG00000196406 ENST00000370515 Transcript missense_variant 450/682 116/294 39/97 P/L cCg/cTg rs145377089,COSV100982246,COSV65152327 1 NA -1 SPANXD HGNC HGNC:14332 protein_coding YES CCDS14675.1 ENSP00000359546 Q9BXN6.111 UPI0000070F37 NM_032417.4 tolerated(1) probably_damaging(0.999) 2/2 Pfam:PF07458,PANTHER:PTHR23425,PANTHER:PTHR23425:SF16,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite 3e-04 NA NA NA NA NA NA NA NA 0,1,1 NA NA NA NA MODERATE 1 SNV 1 NA 0,1,1 NA NA . CGG . 4810.6 1.657e-05 NA NA NA 0.0001452 NA NA NA 5.385e-05 141697643 SPANXD 64648 . GRCh38 chrX 141698335 141698335 + Missense_Mutation SNP A A G rs782213281 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.71T>C p.Met24Thr p.M24T ENST00000370515 1/2 NA NA NA NA NA NA SPANXD,missense_variant,p.Met24Thr,ENST00000370515,NM_032417.4; G ENSG00000196406 ENST00000370515 Transcript missense_variant,splice_region_variant 405/682 71/294 24/97 M/T aTg/aCg rs782213281 1 NA -1 SPANXD HGNC HGNC:14332 protein_coding YES CCDS14675.1 ENSP00000359546 Q9BXN6.111 UPI0000070F37 NM_032417.4 tolerated(0.34) benign(0) 1/2 Pfam:PF07458,PANTHER:PTHR23425,PANTHER:PTHR23425:SF16,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite 3e-04 NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CAT . 1729.6 5.978e-05 0.0001826 NA NA 0.0001423 NA 3.898e-05 NA 0.0001944 141698335 SPANXD 64648 . GRCh38 chrX 141698340 141698340 + Silent SNP G G A rs782201026 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.66C>T p.Asn22= p.N22= ENST00000370515 1/2 NA NA NA NA NA NA SPANXD,synonymous_variant,p.Asn22=,ENST00000370515,NM_032417.4; A ENSG00000196406 ENST00000370515 Transcript synonymous_variant 400/682 66/294 22/97 N aaC/aaT rs782201026 1 NA -1 SPANXD HGNC HGNC:14332 protein_coding YES CCDS14675.1 ENSP00000359546 Q9BXN6.111 UPI0000070F37 NM_032417.4 1/2 Pfam:PF07458,PANTHER:PTHR23425,PANTHER:PTHR23425:SF16,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . CGT . 1690.6 NA NA NA NA NA NA NA NA NA 141698340 SPANXD 64648 . GRCh38 chrX 141698343 141698343 + Silent SNP G G C rs1180800081 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.63C>G p.Ala21= p.A21= ENST00000370515 1/2 NA NA NA NA NA NA SPANXD,synonymous_variant,p.Ala21=,ENST00000370515,NM_032417.4; C ENSG00000196406 ENST00000370515 Transcript synonymous_variant 397/682 63/294 21/97 A gcC/gcG rs1180800081 1 NA -1 SPANXD HGNC HGNC:14332 protein_coding YES CCDS14675.1 ENSP00000359546 Q9BXN6.111 UPI0000070F37 NM_032417.4 1/2 Pfam:PF07458,PANTHER:PTHR23425,PANTHER:PTHR23425:SF16,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . TGG . 1690.6 NA NA NA NA NA NA NA NA NA 141698343 SPANXD 64648 . GRCh38 chrX 141698344 141698344 + Missense_Mutation SNP G G A rs1472748823 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.62C>T p.Ala21Val p.A21V ENST00000370515 1/2 NA NA NA NA NA NA SPANXD,missense_variant,p.Ala21Val,ENST00000370515,NM_032417.4; A ENSG00000196406 ENST00000370515 Transcript missense_variant 396/682 62/294 21/97 A/V gCc/gTc rs1472748823 1 NA -1 SPANXD HGNC HGNC:14332 protein_coding YES CCDS14675.1 ENSP00000359546 Q9BXN6.111 UPI0000070F37 NM_032417.4 tolerated(0.3) benign(0.003) 1/2 Pfam:PF07458,PANTHER:PTHR23425,PANTHER:PTHR23425:SF16,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . GGC . 1690.6 1.427e-05 NA NA NA NA NA 3.574e-05 NA NA 141698344 HSFX2 100506164 . GRCh38 chrX 149594255 149594255 + Missense_Mutation SNP G G A rs2071188 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.446C>T p.Ser149Leu p.S149L ENST00000598963 1/2 NA NA NA NA NA NA HSFX2,missense_variant,p.Ser149Leu,ENST00000598963,NM_001164415.2;TMEM185A,downstream_gene_variant,,ENST00000502858,;TMEM185A,downstream_gene_variant,,ENST00000600449,NM_032508.4;TMEM185A,downstream_gene_variant,,ENST00000611119,NM_001174092.2;TMEM185A,downstream_gene_variant,,ENST00000613273,;TMEM185A,downstream_gene_variant,,ENST00000612022,;TMEM185A,downstream_gene_variant,,ENST00000616857,; A ENSG00000268738 ENST00000598963 Transcript missense_variant 1060/1966 446/1272 149/423 S/L tCg/tTg rs2071188 1 NA -1 HSFX2 HGNC HGNC:32701 protein_coding YES CCDS48179.1 ENSP00000469223 Q9UBD0.164 A0A140VK21.22 UPI000007033B NM_001164415.2 tolerated(0.64) benign(0.003) 1/2 PANTHER:PTHR10015:SF282,PANTHER:PTHR10015,Pfam:PF00447,Gene3D:1.10.10.10,SMART:SM00415,Superfamily:SSF46785 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CGA . 98.6 NA NA NA NA NA NA NA NA NA 149594255 MAMLD1 10046 . GRCh38 chrX 150445536 150445536 + Missense_Mutation SNP G G A rs1557404746 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.20G>A p.Arg7Gln p.R7Q ENST00000432680 2/5 NA NA NA NA NA NA MAMLD1,missense_variant,p.Arg7Gln,ENST00000370401,;MAMLD1,missense_variant,p.Arg7Gln,ENST00000262858,NM_005491.4;MAMLD1,missense_variant,p.Arg7Gln,ENST00000426613,NM_001177466.2;MAMLD1,missense_variant,p.Arg7Gln,ENST00000432680,NM_001177465.3;MAMLD1,missense_variant,p.Arg7Gln,ENST00000358892,;MAMLD1,intron_variant,,ENST00000468306,; A ENSG00000013619 ENST00000432680 Transcript missense_variant 297/4374 20/2997 7/998 R/Q cGg/cAg rs1557404746,COSV53371827 1 NA 1 MAMLD1 HGNC HGNC:2568 protein_coding YES CCDS55526.1 ENSP00000414517 Q13495.143 UPI00017A6EBC NM_001177465.3 deleterious_low_confidence(0.05) benign(0.316) 2/5 PANTHER:PTHR15275 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA MODERATE 1 SNV 2 NA 0,1 NA 1 . CGG . 1161.6 5.516e-06 NA NA 0.0001338 NA NA NA NA NA 150445536 GPR50 9248 . GRCh38 chrX 151180174 151180174 + Silent SNP C C T rs760767794 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.591C>T p.Phe197= p.F197= ENST00000218316 2/2 NA NA NA NA NA NA GPR50,synonymous_variant,p.Phe197=,ENST00000218316,NM_004224.3;GPR50-AS1,upstream_gene_variant,,ENST00000454196,;KC877982.1,upstream_gene_variant,,ENST00000602313,; T ENSG00000102195 ENST00000218316 Transcript synonymous_variant 729/2020 591/1854 197/617 F ttC/ttT rs760767794,COSV54439449 1 NA 1 GPR50 HGNC HGNC:4506 protein_coding YES CCDS44012.1 ENSP00000218316 Q13585.148 UPI000013C755 NM_004224.3 2/2 Gene3D:1.20.1070.10,Pfam:PF00001,Prints:PR00237,PROSITE_profiles:PS50262,PANTHER:PTHR24228,PANTHER:PTHR24228:SF56,SMART:SM01381,Superfamily:SSF81321,Transmembrane_helices:TMhelix,CDD:cd15209 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA LOW 1 SNV 1 NA 0,1 NA NA . TCG . 4176.6 1.128e-05 NA 3.654e-05 NA NA NA 1.229e-05 NA NA 151180174 CSAG1 728461 . GRCh38 chrX 152727846 152727846 + Missense_Mutation SNP C C T rs1556830590 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.185G>A p.Arg62Lys p.R62K ENST00000370287 5/5 NA NA NA NA NA NA CSAG1,missense_variant,p.Arg62Lys,ENST00000370287,NM_153478.3;CSAG1,missense_variant,p.Arg62Lys,ENST00000452779,NM_001102576.3;CSAG1,3_prime_UTR_variant,,ENST00000370291,;CSAG1,3_prime_UTR_variant,,ENST00000361211,; T ENSG00000198930 ENST00000370287 Transcript missense_variant 513/875 185/237 62/78 R/K aGa/aAa rs1556830590 1 NA -1 CSAG1 HGNC HGNC:24294 protein_coding YES CCDS76047.1 ENSP00000359310 Q6PB30.101 UPI00001D9618 NM_153478.3 tolerated_low_confidence(0.75) benign(0) 5/5 MobiDB_lite:mobidb-lite NA 0.2423 0.2347 NA 0.6453 0.4295 0.5724 NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . TCT . 4559.6 NA NA NA NA NA NA NA NA NA 152727846 CSAG1 728461 . GRCh38 chrX 152728111 152728111 + Missense_Mutation SNP T T C novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.130A>G p.Ser44Gly p.S44G ENST00000370287 4/5 NA NA NA NA NA NA CSAG1,missense_variant,p.Ser44Gly,ENST00000370291,;CSAG1,missense_variant,p.Ser44Gly,ENST00000370287,NM_153478.3;CSAG1,missense_variant,p.Ser44Gly,ENST00000452779,NM_001102576.3;CSAG1,3_prime_UTR_variant,,ENST00000361211,; C ENSG00000198930 ENST00000370287 Transcript missense_variant 458/875 130/237 44/78 S/G Agc/Ggc 1 NA -1 CSAG1 HGNC HGNC:24294 protein_coding YES CCDS76047.1 ENSP00000359310 Q6PB30.101 UPI00001D9618 NM_153478.3 deleterious_low_confidence(0.04) benign(0.215) 4/5 MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CTG . 5298.6 NA NA NA NA NA NA NA NA NA 152728111 ZNF185 7739 . GRCh38 chrX 152914748 152914748 + Missense_Mutation SNP G G T rs782480857 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.73G>T p.Val25Phe p.V25F ENST00000535861 2/24 NA NA NA NA NA NA ZNF185,missense_variant,p.Val25Phe,ENST00000535861,NM_001178106.1;ZNF185,missense_variant,p.Val25Phe,ENST00000539731,NM_001178107.1,NM_001178109.1;ZNF185,missense_variant,p.Val25Phe,ENST00000449285,NM_001178108.1;ZNF185,missense_variant,p.Val25Phe,ENST00000370268,NM_007150.3;ZNF185,missense_variant,p.Val25Phe,ENST00000318504,NM_001178110.1;ZNF185,missense_variant,p.Val25Phe,ENST00000370270,;ZNF185,upstream_gene_variant,,ENST00000318529,NM_001178113.1;ZNF185,upstream_gene_variant,,ENST00000324823,;ZNF185,missense_variant,p.Val25Phe,ENST00000436731,;,regulatory_region_variant,,ENSR00000344101,; T ENSG00000147394 ENST00000535861 Transcript missense_variant 121/4421 73/2166 25/721 V/F Gtt/Ttt rs782480857,COSV59274028,COSV59274277 1 NA 1 ZNF185 HGNC HGNC:12976 protein_coding YES CCDS55529.1 ENSP00000440847 O15231.163 UPI0001D27F7E NM_001178106.1 deleterious(0) probably_damaging(0.991) 2/24 PANTHER:PTHR15468,PANTHER:PTHR15468:SF2,MobiDB_lite:mobidb-lite,MobiDB_lite:mobidb-lite NA NA NA NA NA NA NA NA NA 0,1,1 NA NA NA NA MODERATE 1 SNV 5 NA 0,1,1 NA NA . CGT . 4704.6 NA NA NA NA NA NA NA NA NA 152914748 PNMA3 29944 . GRCh38 chrX 153058318 153058318 + Silent SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1263C>T p.Gly421= p.G421= ENST00000593810 1/1 NA NA NA NA NA NA PNMA3,synonymous_variant,p.Gly421=,ENST00000619635,NM_001282535.2;PNMA3,synonymous_variant,p.Gly421=,ENST00000593810,NM_013364.6;PNMA3,synonymous_variant,p.Gly421=,ENST00000424805,; T ENSG00000183837 ENST00000593810 Transcript synonymous_variant 1283/1432 1263/1392 421/463 G ggC/ggT 1 NA 1 PNMA3 HGNC HGNC:18742 protein_coding YES CCDS35435.2 ENSP00000469445 Q9UL41.137 UPI0000070F18 NM_013364.6 1/1 PROSITE_profiles:PS50158,PANTHER:PTHR23095,PANTHER:PTHR23095:SF22,Superfamily:SSF57756 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV NA NA NA NA . GCC . 5561.6 NA NA NA NA NA NA NA NA NA 153058318 PNMA6A 100287428 . GRCh38 chrX 153073226 153073226 + Missense_Mutation SNP C C T rs201232151 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.164C>T p.Ala55Val p.A55V ENST00000421798 2/2 NA NA NA NA NA NA PNMA6A,missense_variant,p.Ala55Val,ENST00000421798,NM_032882.6;PNMA6B,downstream_gene_variant,,ENST00000538162,; T ENSG00000235961 ENST00000421798 Transcript missense_variant 445/2238 164/1200 55/399 A/V gCg/gTg rs201232151 1 NA 1 PNMA6A HGNC HGNC:28248 protein_coding YES CCDS14719.1 ENSP00000391488 P0CW24.68 UPI000006E985 NM_032882.6 tolerated(1) benign(0) 2/2 Pfam:PF14893,PANTHER:PTHR23095,PANTHER:PTHR23095:SF40 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 2 NA NA NA . GCG . 137.6 NA NA NA NA NA NA NA NA NA 153073226 PNMA6A 100287428 . GRCh38 chrX 153073517 153073517 + Missense_Mutation SNP G G A rs1347594472 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.455G>A p.Cys152Tyr p.C152Y ENST00000421798 2/2 NA NA NA NA NA NA PNMA6A,missense_variant,p.Cys152Tyr,ENST00000421798,NM_032882.6;,regulatory_region_variant,,ENSR00000917659,;PNMA6B,downstream_gene_variant,,ENST00000538162,; A ENSG00000235961 ENST00000421798 Transcript missense_variant 736/2238 455/1200 152/399 C/Y tGc/tAc rs1347594472 1 NA 1 PNMA6A HGNC HGNC:28248 protein_coding YES CCDS14719.1 ENSP00000391488 P0CW24.68 UPI000006E985 NM_032882.6 tolerated(1) benign(0) 2/2 Pfam:PF14893,PANTHER:PTHR23095,PANTHER:PTHR23095:SF40 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 2 NA NA NA . TGC . 1654.6 NA NA NA NA NA NA NA NA NA 153073517 PNMA6E 0 . GRCh38 chrX 153398589 153398589 + Frame_Shift_Del DEL C C - novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.261del p.Trp89GlyfsTer3 p.W89Gfs*3 ENST00000445091 2/2 NA NA NA NA NA NA PNMA6E,frameshift_variant,p.Trp89GlyfsTer3,ENST00000445091,NM_001367770.1;PNMA6E,intron_variant,,ENST00000633844,NM_001351293.2,NM_001351294.1; - ENSG00000214897 ENST00000445091 Transcript frameshift_variant 439/3389 261/1944 87/647 G/X ggG/gg 1 NA -1 PNMA6E HGNC HGNC:50767 protein_coding YES ENSP00000488500 A0A0J9YXQ4.26 UPI0006454748 NM_001367770.1 2/2 Pfam:PF14893,PANTHER:PTHR23095,PANTHER:PTHR23095:SF20 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 2 NA NA NA . GGCC . 3116.6 NA NA NA NA NA NA NA NA NA 153398588 ABCD1 215 . GRCh38 chrX 153725373 153725373 + Missense_Mutation SNP T T A novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.107T>A p.Val36Glu p.V36E ENST00000218104 1/10 NA NA NA NA NA NA ABCD1,missense_variant,p.Val36Glu,ENST00000218104,NM_000033.4;BCAP31,upstream_gene_variant,,ENST00000345046,NM_001256447.2,NM_001139441.1;ABCD1,upstream_gene_variant,,ENST00000370129,;BCAP31,upstream_gene_variant,,ENST00000416815,;BCAP31,upstream_gene_variant,,ENST00000423827,;BCAP31,upstream_gene_variant,,ENST00000429550,;BCAP31,upstream_gene_variant,,ENST00000430088,;BCAP31,upstream_gene_variant,,ENST00000442093,;BCAP31,upstream_gene_variant,,ENST00000458587,NM_001139457.2;BCAP31,upstream_gene_variant,,ENST00000645377,;BCAP31,upstream_gene_variant,,ENST00000647529,;BCAP31,upstream_gene_variant,,ENST00000672675,NM_005745.7;BCAP31,upstream_gene_variant,,ENST00000468947,;BCAP31,upstream_gene_variant,,ENST00000645802,;,regulatory_region_variant,,ENSR00000249590,; A ENSG00000101986 ENST00000218104 Transcript missense_variant 518/3669 107/2238 36/745 V/E gTg/gAg 1 NA 1 ABCD1 HGNC HGNC:61 protein_coding YES CCDS14728.1 ENSP00000218104 P33897.225 UPI0000000DF5 NM_000033.4 deleterious(0.01) benign(0.184) 1/10 PANTHER:PTHR11384,PANTHER:PTHR11384:SF21,TIGRFAM:TIGR00954 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . GTG . 1466.6 NA NA NA NA NA NA NA NA NA 153725373 PLXNB3 5365 . GRCh38 chrX 153771881 153771881 + Silent SNP T T C novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2604T>C p.Gly868= p.G868= ENST00000538966 16/37 NA NA NA NA NA NA PLXNB3,synonymous_variant,p.Gly868=,ENST00000538966,NM_001163257.1;PLXNB3,synonymous_variant,p.Gly845=,ENST00000361971,NM_005393.3;PLXNB3,upstream_gene_variant,,ENST00000411613,;PLXNB3,upstream_gene_variant,,ENST00000455214,;SRPK3,upstream_gene_variant,,ENST00000489426,;PLXNB3,upstream_gene_variant,,ENST00000482654,; C ENSG00000198753 ENST00000538966 Transcript synonymous_variant 2875/6377 2604/5799 868/1932 G ggT/ggC 1 NA 1 PLXNB3 HGNC HGNC:9105 protein_coding YES CCDS55536.1 ENSP00000442736 Q9ULL4.161 UPI0001AFF680 NM_001163257.1 16/37 CDD:cd01180,PANTHER:PTHR22625:SF33,PANTHER:PTHR22625,Pfam:PF01833,Gene3D:2.60.40.10,SMART:SM00429,Superfamily:SSF81296 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW NA SNV 5 NA NA NA . GTC . 2515.6 NA NA NA NA NA NA NA NA NA 153771881 PDZD4 57595 . GRCh38 chrX 153808481 153808481 + Frame_Shift_Del DEL C C - novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.175del p.Asp59ThrfsTer92 p.D59Tfs*92 ENST00000393758 2/8 NA NA NA NA NA NA PDZD4,frameshift_variant,p.Asp59ThrfsTer92,ENST00000393758,NM_001303512.2,NM_001303513.3,NM_001303515.2;PDZD4,frameshift_variant,p.Asp59ThrfsTer86,ENST00000164640,NM_032512.5,NM_001303516.2;PDZD4,intron_variant,,ENST00000544474,NM_001303514.2;PDZD4,non_coding_transcript_exon_variant,,ENST00000475140,;PDZD4,non_coding_transcript_exon_variant,,ENST00000483693,;PDZD4,non_coding_transcript_exon_variant,,ENST00000468491,;PDZD4,intron_variant,,ENST00000480418,;PDZD4,upstream_gene_variant,,ENST00000484792,;PDZD4,frameshift_variant,p.Asp59ThrfsTer126,ENST00000480650,; - ENSG00000067840 ENST00000393758 Transcript frameshift_variant 425/3763 175/2328 59/775 D/X Gac/ac 1 NA -1 PDZD4 HGNC HGNC:21167 protein_coding YES CCDS78518.1 ENSP00000377355 Q17RL8.122 UPI0000211CB2 NM_001303512.2,NM_001303513.3,NM_001303515.2 2/8 PANTHER:PTHR15545:SF4,PANTHER:PTHR15545 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 NA NA NA . GTCC . 6673.6 NA NA NA NA NA NA NA NA NA 153808480 HCFC1 3054 . GRCh38 chrX 153950940 153950940 + Missense_Mutation SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.5711G>A p.Gly1904Asp p.G1904D ENST00000369984 23/26 NA NA NA NA NA NA HCFC1,missense_variant,p.Gly1859Asp,ENST00000310441,NM_005334.3;HCFC1,missense_variant,p.Gly1904Asp,ENST00000369984,;HCFC1,missense_variant,p.Gly435Asp,ENST00000444191,;,regulatory_region_variant,,ENSR00001164572,; T ENSG00000172534 ENST00000369984 Transcript missense_variant 6055/8375 5711/6243 1904/2080 G/D gGc/gAc 1 NA -1 HCFC1 HGNC HGNC:4839 protein_coding YES ENSP00000359001 A6NEM2.112 UPI0000E5B00E deleterious(0) probably_damaging(0.999) 23/26 Gene3D:2.60.40.10,PROSITE_profiles:PS50853,PANTHER:PTHR46003,PANTHER:PTHR46003:SF3,SMART:SM00060,Superfamily:SSF49265,CDD:cd00063 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 5 NA NA 1 . GCC . 3855.6 NA NA NA NA NA NA NA NA NA 153950940 MECP2 4204 . GRCh38 chrX 154031118 154031118 + Frame_Shift_Del DEL C C - rs61749743 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.746del p.Gly249ValfsTer11 p.G249Vfs*11 ENST00000453960 3/3 NA NA NA NA NA NA MECP2,frameshift_variant,p.Gly237ValfsTer11,ENST00000303391,NM_001369391.2,NM_004992.4,NM_001369392.2,NM_001316337.2;MECP2,frameshift_variant,p.Gly249ValfsTer11,ENST00000453960,NM_001110792.2,NM_001369393.2;MECP2,3_prime_UTR_variant,,ENST00000628176,;MECP2,3_prime_UTR_variant,,ENST00000407218,;MECP2,intron_variant,,ENST00000637917,;MECP2,downstream_gene_variant,,ENST00000415944,;MECP2,downstream_gene_variant,,ENST00000630151,;MECP2,downstream_gene_variant,,ENST00000460227,;MECP2,downstream_gene_variant,,ENST00000463644,;MECP2,downstream_gene_variant,,ENST00000488293,;MECP2,downstream_gene_variant,,ENST00000496908,;MECP2,downstream_gene_variant,,ENST00000611468,;MECP2,downstream_gene_variant,,ENST00000625300,;MECP2,downstream_gene_variant,,ENST00000626422,;MECP2,downstream_gene_variant,,ENST00000631210,;MECP2,downstream_gene_variant,,ENST00000637533,;MECP2,downstream_gene_variant,,ENST00000637791,;MECP2,downstream_gene_variant,,ENST00000676382,;MECP2,downstream_gene_variant,,ENST00000369957,;MECP2,downstream_gene_variant,,ENST00000481807,;MECP2,downstream_gene_variant,,ENST00000486506,;MECP2,downstream_gene_variant,,ENST00000675526,; - ENSG00000169057 ENST00000453960 Transcript frameshift_variant 798/10343 746/1497 249/498 G/X gGt/gt rs61749743,CD001509,CM076289 1 NA -1 MECP2 HGNC HGNC:6990 protein_coding YES CCDS48193.1 ENSP00000395535 P51608.235 A0A140VKC4.35 UPI0000253F1B NM_001110792.2,NM_001369393.2 3/3 MobiDB_lite:mobidb-lite,PANTHER:PTHR15074,PANTHER:PTHR15074:SF4,PIRSF:PIRSF038006 NA NA NA NA NA NA NA NA NA pathogenic 11241840,21160487,11055898,17089071,11738860,5300597,19724012 NA NA NA NA HIGH 1 deletion 1 NA 1,1,1 NA 1 . CACC . 12509.04 NA NA NA NA NA NA NA NA NA 154031117 FLNA 2316 . GRCh38 chrX 154353119 154353119 + Silent SNP C C T rs782221205 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.6108G>A p.Pro2036= p.P2036= ENST00000369850 38/48 NA NA NA NA NA NA FLNA,synonymous_variant,p.Pro2036=,ENST00000369850,NM_001110556.2;FLNA,synonymous_variant,p.Pro2028=,ENST00000360319,NM_001456.3;FLNA,synonymous_variant,p.Pro2009=,ENST00000369856,;FLNA,synonymous_variant,p.Pro17=,ENST00000444578,;FLNA,intron_variant,,ENST00000422373,;FLNA,intron_variant,,ENST00000673639,;FLNA,downstream_gene_variant,,ENST00000438732,;FLNA,upstream_gene_variant,,ENST00000498411,;FLNA,upstream_gene_variant,,ENST00000498491,;FLNA,3_prime_UTR_variant,,ENST00000676696,;FLNA,3_prime_UTR_variant,,ENST00000610817,;FLNA,3_prime_UTR_variant,,ENST00000420627,;FLNA,3_prime_UTR_variant,,ENST00000415241,;FLNA,non_coding_transcript_exon_variant,,ENST00000490936,;FLNA,non_coding_transcript_exon_variant,,ENST00000678304,;FLNA,non_coding_transcript_exon_variant,,ENST00000466325,;FLNA,upstream_gene_variant,,ENST00000462590,;FLNA,downstream_gene_variant,,ENST00000466319,;FLNA,downstream_gene_variant,,ENST00000474072,;FLNA,upstream_gene_variant,,ENST00000474358,; T ENSG00000196924 ENST00000369850 Transcript synonymous_variant 6353/8507 6108/7944 2036/2647 P ccG/ccA rs782221205,COSV100774293 1 NA -1 FLNA HGNC HGNC:3754 protein_coding YES CCDS48194.1 ENSP00000358866 P21333.250 UPI000013C596 NM_001110556.2 38/48 Gene3D:2.60.40.10,PDB-ENSP_mappings:2k7q.A,PROSITE_profiles:PS50194,PANTHER:PTHR38537,PANTHER:PTHR38537:SF6,SMART:SM00557,Superfamily:SSF81296,Superfamily:SSF81296 NA NA NA NA NA NA NA NA NA uncertain_significance 0,1 NA NA NA NA LOW 1 SNV 1 NA 1,1 NA 1 . CCG . 6007.6 2.755e-05 0.0001618 NA NA NA 6.279e-05 2.461e-05 NA NA 154353119 CTAG2 30848 . GRCh38 chrX 154653499 154653499 + Missense_Mutation SNP C C T rs17855367 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.17G>A p.Arg6Gln p.R6Q ENST00000247306 1/2 NA NA NA NA NA NA CTAG2,missense_variant,p.Arg6Gln,ENST00000247306,NM_020994.5;CTAG2,missense_variant,p.Arg6Gln,ENST00000369585,NM_172377.4;AC244107.1,upstream_gene_variant,,ENST00000442033,; T ENSG00000126890 ENST00000247306 Transcript missense_variant 81/993 17/633 6/210 R/Q cGg/cAg rs17855367 1 NA -1 CTAG2 HGNC HGNC:2492 protein_coding YES CCDS14759.1 ENSP00000247306 O75638.155 UPI000006D049 NM_020994.5 tolerated_low_confidence(1) benign(0) 1/2 PANTHER:PTHR31283,PANTHER:PTHR31283:SF15,MobiDB_lite:mobidb-lite,Low_complexity_(Seg):seg NA 0.0837 0.6775 NA 0.8429 0.748 0.5474 NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CCG . 492.6 NA NA NA NA NA NA NA NA NA 154653499 PCDH11Y 83259 . GRCh38 chrY 5098271 5098271 + Silent SNP A A C novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.693A>C p.Pro231= p.P231= ENST00000400457 2/5 NA NA NA NA NA NA PCDH11Y,synonymous_variant,p.Pro231=,ENST00000400457,NM_032973.2;PCDH11Y,synonymous_variant,p.Pro220=,ENST00000622698,NM_001278619.2;PCDH11Y,synonymous_variant,p.Pro220=,ENST00000333703,NM_032971.3;PCDH11Y,synonymous_variant,p.Pro231=,ENST00000215473,;PCDH11Y,synonymous_variant,p.Pro231=,ENST00000362095,NM_032972.2; C ENSG00000099715 ENST00000400457 Transcript synonymous_variant 1427/9039 693/4023 231/1340 P ccA/ccC 1 NA 1 PCDH11Y HGNC HGNC:15813 protein_coding YES CCDS76066.1 ENSP00000383306 Q9BZA8.141 UPI0000071635 NM_032973.2 2/5 Gene3D:2.60.40.60,Pfam:PF00028,PROSITE_profiles:PS50268,PANTHER:PTHR24028,PANTHER:PTHR24028:SF254,SMART:SM00112,Superfamily:SSF49313,CDD:cd11304 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . CAC . 97.62 NA NA NA NA NA NA NA NA NA 5098271 PCDH11Y 83259 . GRCh38 chrY 5098301 5098301 + Silent SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.723G>A p.Arg241= p.R241= ENST00000400457 2/5 NA NA NA NA NA NA PCDH11Y,synonymous_variant,p.Arg241=,ENST00000400457,NM_032973.2;PCDH11Y,synonymous_variant,p.Arg230=,ENST00000622698,NM_001278619.2;PCDH11Y,synonymous_variant,p.Arg230=,ENST00000333703,NM_032971.3;PCDH11Y,synonymous_variant,p.Arg241=,ENST00000215473,;PCDH11Y,synonymous_variant,p.Arg241=,ENST00000362095,NM_032972.2; A ENSG00000099715 ENST00000400457 Transcript synonymous_variant 1457/9039 723/4023 241/1340 R agG/agA 1 NA 1 PCDH11Y HGNC HGNC:15813 protein_coding YES CCDS76066.1 ENSP00000383306 Q9BZA8.141 UPI0000071635 NM_032973.2 2/5 Gene3D:2.60.40.60,Pfam:PF00028,PROSITE_profiles:PS50268,PANTHER:PTHR24028,PANTHER:PTHR24028:SF254,SMART:SM00112,Superfamily:SSF49313,CDD:cd11304 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . GGG . 151.6 NA NA NA NA NA NA NA NA NA 5098301 PCDH11Y 83259 . GRCh38 chrY 5098334 5098334 + Silent SNP G G A NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.756G>A p.Lys252= p.K252= ENST00000400457 2/5 NA NA NA NA NA NA PCDH11Y,synonymous_variant,p.Lys252=,ENST00000400457,NM_032973.2;PCDH11Y,synonymous_variant,p.Lys241=,ENST00000622698,NM_001278619.2;PCDH11Y,synonymous_variant,p.Lys241=,ENST00000333703,NM_032971.3;PCDH11Y,synonymous_variant,p.Lys252=,ENST00000215473,;PCDH11Y,synonymous_variant,p.Lys252=,ENST00000362095,NM_032972.2; A ENSG00000099715 ENST00000400457 Transcript synonymous_variant 1490/9039 756/4023 252/1340 K aaG/aaA COSV53083145 1 NA 1 PCDH11Y HGNC HGNC:15813 protein_coding YES CCDS76066.1 ENSP00000383306 Q9BZA8.141 UPI0000071635 NM_032973.2 2/5 Gene3D:2.60.40.60,Pfam:PF00028,PROSITE_profiles:PS50268,PANTHER:PTHR24028,PANTHER:PTHR24028:SF254,SMART:SM00112,Superfamily:SSF49313,CDD:cd11304 NA NA NA NA NA NA NA NA NA 1 NA NA NA NA LOW 1 SNV 1 NA 1 NA NA . AGG . 176.73 NA NA NA NA NA NA NA NA NA 5098334 PCDH11Y 83259 . GRCh38 chrY 5098370 5098370 + Silent SNP T T A NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.792T>A p.Thr264= p.T264= ENST00000400457 2/5 NA NA NA NA NA NA PCDH11Y,synonymous_variant,p.Thr264=,ENST00000400457,NM_032973.2;PCDH11Y,synonymous_variant,p.Thr253=,ENST00000622698,NM_001278619.2;PCDH11Y,synonymous_variant,p.Thr253=,ENST00000333703,NM_032971.3;PCDH11Y,synonymous_variant,p.Thr264=,ENST00000215473,;PCDH11Y,synonymous_variant,p.Thr264=,ENST00000362095,NM_032972.2; A ENSG00000099715 ENST00000400457 Transcript synonymous_variant 1526/9039 792/4023 264/1340 T acT/acA COSV53083170 1 NA 1 PCDH11Y HGNC HGNC:15813 protein_coding YES CCDS76066.1 ENSP00000383306 Q9BZA8.141 UPI0000071635 NM_032973.2 2/5 Gene3D:2.60.40.60,Pfam:PF00028,PROSITE_profiles:PS50268,PANTHER:PTHR24028,PANTHER:PTHR24028:SF254,SMART:SM00112,Superfamily:SSF49313,CDD:cd11304 NA NA NA NA NA NA NA NA NA 1 NA NA NA NA LOW 1 SNV 1 NA 1 NA NA . CTG . 241.6 NA NA NA NA NA NA NA NA NA 5098370 PCDH11Y 83259 . GRCh38 chrY 5098392 5098392 + Missense_Mutation SNP A A G novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.814A>G p.Thr272Ala p.T272A ENST00000400457 2/5 NA NA NA NA NA NA PCDH11Y,missense_variant,p.Thr272Ala,ENST00000400457,NM_032973.2;PCDH11Y,missense_variant,p.Thr261Ala,ENST00000622698,NM_001278619.2;PCDH11Y,missense_variant,p.Thr261Ala,ENST00000333703,NM_032971.3;PCDH11Y,missense_variant,p.Thr272Ala,ENST00000215473,;PCDH11Y,missense_variant,p.Thr272Ala,ENST00000362095,NM_032972.2; G ENSG00000099715 ENST00000400457 Transcript missense_variant 1548/9039 814/4023 272/1340 T/A Act/Gct 1 NA 1 PCDH11Y HGNC HGNC:15813 protein_coding YES CCDS76066.1 ENSP00000383306 Q9BZA8.141 UPI0000071635 NM_032973.2 tolerated(0.51) benign(0.009) 2/5 Gene3D:2.60.40.60,Pfam:PF00028,PROSITE_patterns:PS00232,PROSITE_profiles:PS50268,PANTHER:PTHR24028,PANTHER:PTHR24028:SF254,SMART:SM00112,Superfamily:SSF49313,Superfamily:SSF49313,CDD:cd11304 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . TAC . 241.6 NA NA NA NA NA NA NA NA NA 5098392 PCDH11Y 83259 . GRCh38 chrY 5098403 5098403 + Silent SNP T T C novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.825T>C p.Asn275= p.N275= ENST00000400457 2/5 NA NA NA NA NA NA PCDH11Y,synonymous_variant,p.Asn275=,ENST00000400457,NM_032973.2;PCDH11Y,synonymous_variant,p.Asn264=,ENST00000622698,NM_001278619.2;PCDH11Y,synonymous_variant,p.Asn264=,ENST00000333703,NM_032971.3;PCDH11Y,synonymous_variant,p.Asn275=,ENST00000215473,;PCDH11Y,synonymous_variant,p.Asn275=,ENST00000362095,NM_032972.2; C ENSG00000099715 ENST00000400457 Transcript synonymous_variant 1559/9039 825/4023 275/1340 N aaT/aaC 1 NA 1 PCDH11Y HGNC HGNC:15813 protein_coding YES CCDS76066.1 ENSP00000383306 Q9BZA8.141 UPI0000071635 NM_032973.2 2/5 Gene3D:2.60.40.60,PROSITE_patterns:PS00232,PROSITE_profiles:PS50268,PANTHER:PTHR24028,PANTHER:PTHR24028:SF254,SMART:SM00112,Superfamily:SSF49313,CDD:cd11304 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . ATG . 241.6 NA NA NA NA NA NA NA NA NA 5098403 PCDH11Y 83259 . GRCh38 chrY 5098409 5098409 + Silent SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.831C>T p.Asn277= p.N277= ENST00000400457 2/5 NA NA NA NA NA NA PCDH11Y,synonymous_variant,p.Asn277=,ENST00000400457,NM_032973.2;PCDH11Y,synonymous_variant,p.Asn266=,ENST00000622698,NM_001278619.2;PCDH11Y,synonymous_variant,p.Asn266=,ENST00000333703,NM_032971.3;PCDH11Y,synonymous_variant,p.Asn277=,ENST00000215473,;PCDH11Y,synonymous_variant,p.Asn277=,ENST00000362095,NM_032972.2; T ENSG00000099715 ENST00000400457 Transcript synonymous_variant 1565/9039 831/4023 277/1340 N aaC/aaT 1 NA 1 PCDH11Y HGNC HGNC:15813 protein_coding YES CCDS76066.1 ENSP00000383306 Q9BZA8.141 UPI0000071635 NM_032973.2 2/5 Gene3D:2.60.40.60,PROSITE_patterns:PS00232,PROSITE_profiles:PS50268,PANTHER:PTHR24028,PANTHER:PTHR24028:SF254,SMART:SM00112,Superfamily:SSF49313,CDD:cd11304 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . ACC . 241.6 NA NA NA NA NA NA NA NA NA 5098409 PCDH11Y 83259 . GRCh38 chrY 5098416 5098416 + Missense_Mutation SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.838G>A p.Val280Ile p.V280I ENST00000400457 2/5 NA NA NA NA NA NA PCDH11Y,missense_variant,p.Val280Ile,ENST00000400457,NM_032973.2;PCDH11Y,missense_variant,p.Val269Ile,ENST00000622698,NM_001278619.2;PCDH11Y,missense_variant,p.Val269Ile,ENST00000333703,NM_032971.3;PCDH11Y,missense_variant,p.Val280Ile,ENST00000215473,;PCDH11Y,missense_variant,p.Val280Ile,ENST00000362095,NM_032972.2; A ENSG00000099715 ENST00000400457 Transcript missense_variant 1572/9039 838/4023 280/1340 V/I Gtc/Atc 1 NA 1 PCDH11Y HGNC HGNC:15813 protein_coding YES CCDS76066.1 ENSP00000383306 Q9BZA8.141 UPI0000071635 NM_032973.2 tolerated(0.23) benign(0.003) 2/5 Gene3D:2.60.40.60,PROSITE_profiles:PS50268,PANTHER:PTHR24028,PANTHER:PTHR24028:SF254,Superfamily:SSF49313 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . AGT . 157.6 NA NA NA NA NA NA NA NA NA 5098416 PCDH11Y 83259 . GRCh38 chrY 5098420 5098421 + Frame_Shift_Ins INS - - CA novel NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.842_843insCA p.Lys282IlefsTer16 p.K282Ifs*16 ENST00000400457 2/5 NA NA NA NA NA NA PCDH11Y,frameshift_variant,p.Lys282IlefsTer16,ENST00000400457,NM_032973.2;PCDH11Y,frameshift_variant,p.Lys271IlefsTer16,ENST00000622698,NM_001278619.2;PCDH11Y,frameshift_variant,p.Lys271IlefsTer16,ENST00000333703,NM_032971.3;PCDH11Y,frameshift_variant,p.Lys282IlefsTer16,ENST00000215473,;PCDH11Y,frameshift_variant,p.Lys282IlefsTer16,ENST00000362095,NM_032972.2; CA ENSG00000099715 ENST00000400457 Transcript frameshift_variant 1576-1577/9039 842-843/4023 281/1340 F/FX ttt/ttCAt 1 NA 1 PCDH11Y HGNC HGNC:15813 protein_coding YES CCDS76066.1 ENSP00000383306 Q9BZA8.141 UPI0000071635 NM_032973.2 2/5 Gene3D:2.60.40.60,PROSITE_profiles:PS50268,PANTHER:PTHR24028,PANTHER:PTHR24028:SF254,Superfamily:SSF49313 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 insertion 1 NA NA NA . TTT . 73.64 NA NA NA NA NA NA NA NA NA 5098420 PCDH11Y 83259 . GRCh38 chrY 5098421 5098422 + Frame_Shift_Ins INS - - AGAA novel NA HCI-EC-23 NORMAL - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.844_845insGAAA p.Lys282ArgfsTer7 p.K282Rfs*7 ENST00000400457 2/5 NA NA NA NA NA NA PCDH11Y,frameshift_variant,p.Lys282ArgfsTer7,ENST00000400457,NM_032973.2;PCDH11Y,frameshift_variant,p.Lys271ArgfsTer7,ENST00000622698,NM_001278619.2;PCDH11Y,frameshift_variant,p.Lys271ArgfsTer7,ENST00000333703,NM_032971.3;PCDH11Y,frameshift_variant,p.Lys282ArgfsTer7,ENST00000215473,;PCDH11Y,frameshift_variant,p.Lys282ArgfsTer7,ENST00000362095,NM_032972.2; AGAA ENSG00000099715 ENST00000400457 Transcript frameshift_variant 1577-1578/9039 843-844/4023 281-282/1340 -/RX -/AGAA 1 NA 1 PCDH11Y HGNC HGNC:15813 protein_coding YES CCDS76066.1 ENSP00000383306 Q9BZA8.141 UPI0000071635 NM_032973.2 2/5 Gene3D:2.60.40.60,PANTHER:PTHR24028,PANTHER:PTHR24028:SF254,Superfamily:SSF49313 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 insertion 1 1 NA NA . TTA . 73.64 NA NA NA NA NA NA NA NA NA 5098421 PCDH11Y 83259 . GRCh38 chrY 5098427 5098427 + Frame_Shift_Del DEL G G - novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.849del p.Thr284GlnfsTer13 p.T284Qfs*13 ENST00000400457 2/5 NA NA NA NA NA NA PCDH11Y,frameshift_variant,p.Thr284GlnfsTer13,ENST00000400457,NM_032973.2;PCDH11Y,frameshift_variant,p.Thr273GlnfsTer13,ENST00000622698,NM_001278619.2;PCDH11Y,frameshift_variant,p.Thr273GlnfsTer13,ENST00000333703,NM_032971.3;PCDH11Y,frameshift_variant,p.Thr284GlnfsTer13,ENST00000215473,;PCDH11Y,frameshift_variant,p.Thr284GlnfsTer13,ENST00000362095,NM_032972.2; - ENSG00000099715 ENST00000400457 Transcript frameshift_variant 1583/9039 849/4023 283/1340 E/X gaG/ga 1 NA 1 PCDH11Y HGNC HGNC:15813 protein_coding YES CCDS76066.1 ENSP00000383306 Q9BZA8.141 UPI0000071635 NM_032973.2 2/5 Gene3D:2.60.40.60,PROSITE_profiles:PS50268,PANTHER:PTHR24028,PANTHER:PTHR24028:SF254,Superfamily:SSF49313 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 NA NA NA . GAGA . 73.6 NA NA NA NA NA NA NA NA NA 5098426 PCDH11Y 83259 . GRCh38 chrY 5098429 5098433 + Frame_Shift_Del DEL CAGAG CAGAG - novel NA HCI-EC-23 NORMAL CAGAG CAGAG NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.851_855del p.Thr284AsnfsTer2 p.T284Nfs*2 ENST00000400457 2/5 NA NA NA NA NA NA PCDH11Y,frameshift_variant,p.Thr284AsnfsTer2,ENST00000400457,NM_032973.2;PCDH11Y,frameshift_variant,p.Thr273AsnfsTer2,ENST00000622698,NM_001278619.2;PCDH11Y,frameshift_variant,p.Thr273AsnfsTer2,ENST00000333703,NM_032971.3;PCDH11Y,frameshift_variant,p.Thr284AsnfsTer2,ENST00000215473,;PCDH11Y,frameshift_variant,p.Thr284AsnfsTer2,ENST00000362095,NM_032972.2; - ENSG00000099715 ENST00000400457 Transcript frameshift_variant 1585-1589/9039 851-855/4023 284-285/1340 TE/X aCAGAG/a 1 NA 1 PCDH11Y HGNC HGNC:15813 protein_coding YES CCDS76066.1 ENSP00000383306 Q9BZA8.141 UPI0000071635 NM_032973.2 2/5 Gene3D:2.60.40.60,PROSITE_profiles:PS50268,PANTHER:PTHR24028,PANTHER:PTHR24028:SF254,Superfamily:SSF49313,CDD:cd11304 NA NA NA NA NA NA NA NA NA NA NA NA NA HIGH 1 deletion 1 NA NA NA . GACAGAGA . 73.6 NA NA NA NA NA NA NA NA NA 5098428 PCDH11Y 83259 . GRCh38 chrY 5098464 5098464 + Missense_Mutation SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.886G>A p.Val296Ile p.V296I ENST00000400457 2/5 NA NA NA NA NA NA PCDH11Y,missense_variant,p.Val296Ile,ENST00000400457,NM_032973.2;PCDH11Y,missense_variant,p.Val285Ile,ENST00000622698,NM_001278619.2;PCDH11Y,missense_variant,p.Val285Ile,ENST00000333703,NM_032971.3;PCDH11Y,missense_variant,p.Val296Ile,ENST00000215473,;PCDH11Y,missense_variant,p.Val296Ile,ENST00000362095,NM_032972.2; A ENSG00000099715 ENST00000400457 Transcript missense_variant 1620/9039 886/4023 296/1340 V/I Gta/Ata 1 NA 1 PCDH11Y HGNC HGNC:15813 protein_coding YES CCDS76066.1 ENSP00000383306 Q9BZA8.141 UPI0000071635 NM_032973.2 tolerated(0.43) benign(0.011) 2/5 Gene3D:2.60.40.60,Pfam:PF00028,PROSITE_profiles:PS50268,PANTHER:PTHR24028,PANTHER:PTHR24028:SF254,Superfamily:SSF49313,CDD:cd11304 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . TGT . 58.28 NA NA NA NA NA NA NA NA NA 5098464 PCDH11Y 83259 . GRCh38 chrY 5098469 5098469 + Silent SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.891C>T p.Gly297= p.G297= ENST00000400457 2/5 NA NA NA NA NA NA PCDH11Y,synonymous_variant,p.Gly297=,ENST00000400457,NM_032973.2;PCDH11Y,synonymous_variant,p.Gly286=,ENST00000622698,NM_001278619.2;PCDH11Y,synonymous_variant,p.Gly286=,ENST00000333703,NM_032971.3;PCDH11Y,synonymous_variant,p.Gly297=,ENST00000215473,;PCDH11Y,synonymous_variant,p.Gly297=,ENST00000362095,NM_032972.2; T ENSG00000099715 ENST00000400457 Transcript synonymous_variant 1625/9039 891/4023 297/1340 G ggC/ggT 1 NA 1 PCDH11Y HGNC HGNC:15813 protein_coding YES CCDS76066.1 ENSP00000383306 Q9BZA8.141 UPI0000071635 NM_032973.2 2/5 Gene3D:2.60.40.60,Pfam:PF00028,PROSITE_profiles:PS50268,PANTHER:PTHR24028,PANTHER:PTHR24028:SF254,Superfamily:SSF49313,CDD:cd11304 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . GCA . 35.44 NA NA NA NA NA NA NA NA NA 5098469 PCDH11Y 83259 . GRCh38 chrY 5098470 5098470 + Missense_Mutation SNP A A T NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.892A>T p.Thr298Ser p.T298S ENST00000400457 2/5 NA NA NA NA NA NA PCDH11Y,missense_variant,p.Thr298Ser,ENST00000400457,NM_032973.2;PCDH11Y,missense_variant,p.Thr287Ser,ENST00000622698,NM_001278619.2;PCDH11Y,missense_variant,p.Thr287Ser,ENST00000333703,NM_032971.3;PCDH11Y,missense_variant,p.Thr298Ser,ENST00000215473,;PCDH11Y,missense_variant,p.Thr298Ser,ENST00000362095,NM_032972.2; T ENSG00000099715 ENST00000400457 Transcript missense_variant 1626/9039 892/4023 298/1340 T/S Act/Tct COSV53075289 1 NA 1 PCDH11Y HGNC HGNC:15813 protein_coding YES CCDS76066.1 ENSP00000383306 Q9BZA8.141 UPI0000071635 NM_032973.2 tolerated(0.34) benign(0.014) 2/5 Gene3D:2.60.40.60,Pfam:PF00028,PROSITE_profiles:PS50268,PANTHER:PTHR24028,PANTHER:PTHR24028:SF254,Superfamily:SSF49313,CDD:cd11304 NA NA NA NA NA NA NA NA NA 1 NA NA NA NA MODERATE 1 SNV 1 NA 1 NA NA . CAC . 35.44 NA NA NA NA NA NA NA NA NA 5098470 PCDH11Y 83259 . GRCh38 chrY 5098502 5098502 + Silent SNP T T A novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.924T>A p.Ala308= p.A308= ENST00000400457 2/5 NA NA NA NA NA NA PCDH11Y,synonymous_variant,p.Ala308=,ENST00000400457,NM_032973.2;PCDH11Y,synonymous_variant,p.Ala297=,ENST00000622698,NM_001278619.2;PCDH11Y,synonymous_variant,p.Ala297=,ENST00000333703,NM_032971.3;PCDH11Y,synonymous_variant,p.Ala308=,ENST00000215473,;PCDH11Y,synonymous_variant,p.Ala308=,ENST00000362095,NM_032972.2; A ENSG00000099715 ENST00000400457 Transcript synonymous_variant 1658/9039 924/4023 308/1340 A gcT/gcA 1 NA 1 PCDH11Y HGNC HGNC:15813 protein_coding YES CCDS76066.1 ENSP00000383306 Q9BZA8.141 UPI0000071635 NM_032973.2 2/5 Gene3D:2.60.40.60,Pfam:PF00028,PROSITE_profiles:PS50268,PANTHER:PTHR24028,PANTHER:PTHR24028:SF254,SMART:SM00112,Superfamily:SSF49313,CDD:cd11304 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . CTG . 35.44 NA NA NA NA NA NA NA NA NA 5098502 PCDH11Y 83259 . GRCh38 chrY 5098505 5098505 + Silent SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.927C>T p.Asp309= p.D309= ENST00000400457 2/5 NA NA NA NA NA NA PCDH11Y,synonymous_variant,p.Asp309=,ENST00000400457,NM_032973.2;PCDH11Y,synonymous_variant,p.Asp298=,ENST00000622698,NM_001278619.2;PCDH11Y,synonymous_variant,p.Asp298=,ENST00000333703,NM_032971.3;PCDH11Y,synonymous_variant,p.Asp309=,ENST00000215473,;PCDH11Y,synonymous_variant,p.Asp309=,ENST00000362095,NM_032972.2; T ENSG00000099715 ENST00000400457 Transcript synonymous_variant 1661/9039 927/4023 309/1340 D gaC/gaT 1 NA 1 PCDH11Y HGNC HGNC:15813 protein_coding YES CCDS76066.1 ENSP00000383306 Q9BZA8.141 UPI0000071635 NM_032973.2 2/5 Gene3D:2.60.40.60,Pfam:PF00028,PROSITE_profiles:PS50268,PANTHER:PTHR24028,PANTHER:PTHR24028:SF254,SMART:SM00112,Superfamily:SSF49313,CDD:cd11304 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . ACA . 35.44 NA NA NA NA NA NA NA NA NA 5098505 PCDH11Y 83259 . GRCh38 chrY 5098514 5098514 + Silent SNP A A G novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.936A>G p.Glu312= p.E312= ENST00000400457 2/5 NA NA NA NA NA NA PCDH11Y,synonymous_variant,p.Glu312=,ENST00000400457,NM_032973.2;PCDH11Y,synonymous_variant,p.Glu301=,ENST00000622698,NM_001278619.2;PCDH11Y,synonymous_variant,p.Glu301=,ENST00000333703,NM_032971.3;PCDH11Y,synonymous_variant,p.Glu312=,ENST00000215473,;PCDH11Y,synonymous_variant,p.Glu312=,ENST00000362095,NM_032972.2; G ENSG00000099715 ENST00000400457 Transcript synonymous_variant 1670/9039 936/4023 312/1340 E gaA/gaG 1 NA 1 PCDH11Y HGNC HGNC:15813 protein_coding YES CCDS76066.1 ENSP00000383306 Q9BZA8.141 UPI0000071635 NM_032973.2 2/5 Gene3D:2.60.40.60,Pfam:PF00028,PROSITE_profiles:PS50268,PANTHER:PTHR24028,PANTHER:PTHR24028:SF254,SMART:SM00112,Superfamily:SSF49313,CDD:cd11304 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . AAA . 35.44 NA NA NA NA NA NA NA NA NA 5098514 PCDH11Y 83259 . GRCh38 chrY 5098522 5098522 + Missense_Mutation SNP A A G novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.944A>G p.Lys315Arg p.K315R ENST00000400457 2/5 NA NA NA NA NA NA PCDH11Y,missense_variant,p.Lys315Arg,ENST00000400457,NM_032973.2;PCDH11Y,missense_variant,p.Lys304Arg,ENST00000622698,NM_001278619.2;PCDH11Y,missense_variant,p.Lys304Arg,ENST00000333703,NM_032971.3;PCDH11Y,missense_variant,p.Lys315Arg,ENST00000215473,;PCDH11Y,missense_variant,p.Lys315Arg,ENST00000362095,NM_032972.2; G ENSG00000099715 ENST00000400457 Transcript missense_variant 1678/9039 944/4023 315/1340 K/R aAg/aGg 1 NA 1 PCDH11Y HGNC HGNC:15813 protein_coding YES CCDS76066.1 ENSP00000383306 Q9BZA8.141 UPI0000071635 NM_032973.2 tolerated(0.53) benign(0.001) 2/5 Gene3D:2.60.40.60,Pfam:PF00028,PROSITE_profiles:PS50268,PANTHER:PTHR24028,PANTHER:PTHR24028:SF254,SMART:SM00112,Superfamily:SSF49313,CDD:cd11304 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . AAG . 35.44 NA NA NA NA NA NA NA NA NA 5098522 PCDH11Y 83259 . GRCh38 chrY 5098523 5098523 + Silent SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.945G>A p.Lys315= p.K315= ENST00000400457 2/5 NA NA NA NA NA NA PCDH11Y,synonymous_variant,p.Lys315=,ENST00000400457,NM_032973.2;PCDH11Y,synonymous_variant,p.Lys304=,ENST00000622698,NM_001278619.2;PCDH11Y,synonymous_variant,p.Lys304=,ENST00000333703,NM_032971.3;PCDH11Y,synonymous_variant,p.Lys315=,ENST00000215473,;PCDH11Y,synonymous_variant,p.Lys315=,ENST00000362095,NM_032972.2; A ENSG00000099715 ENST00000400457 Transcript synonymous_variant 1679/9039 945/4023 315/1340 K aaG/aaA 1 NA 1 PCDH11Y HGNC HGNC:15813 protein_coding YES CCDS76066.1 ENSP00000383306 Q9BZA8.141 UPI0000071635 NM_032973.2 2/5 Gene3D:2.60.40.60,Pfam:PF00028,PROSITE_profiles:PS50268,PANTHER:PTHR24028,PANTHER:PTHR24028:SF254,SMART:SM00112,Superfamily:SSF49313,CDD:cd11304 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . AGA . 35.44 NA NA NA NA NA NA NA NA NA 5098523 PCDH11Y 83259 . GRCh38 chrY 5098526 5098526 + Silent SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.948C>T p.Ile316= p.I316= ENST00000400457 2/5 NA NA NA NA NA NA PCDH11Y,synonymous_variant,p.Ile316=,ENST00000400457,NM_032973.2;PCDH11Y,synonymous_variant,p.Ile305=,ENST00000622698,NM_001278619.2;PCDH11Y,synonymous_variant,p.Ile305=,ENST00000333703,NM_032971.3;PCDH11Y,synonymous_variant,p.Ile316=,ENST00000215473,;PCDH11Y,synonymous_variant,p.Ile316=,ENST00000362095,NM_032972.2; T ENSG00000099715 ENST00000400457 Transcript synonymous_variant 1682/9039 948/4023 316/1340 I atC/atT 1 NA 1 PCDH11Y HGNC HGNC:15813 protein_coding YES CCDS76066.1 ENSP00000383306 Q9BZA8.141 UPI0000071635 NM_032973.2 2/5 Gene3D:2.60.40.60,Pfam:PF00028,PROSITE_profiles:PS50268,PANTHER:PTHR24028,PANTHER:PTHR24028:SF254,SMART:SM00112,Superfamily:SSF49313,CDD:cd11304 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . TCC . 35.44 NA NA NA NA NA NA NA NA NA 5098526 PCDH11Y 83259 . GRCh38 chrY 5098532 5098532 + Silent SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.954C>T p.Phe318= p.F318= ENST00000400457 2/5 NA NA NA NA NA NA PCDH11Y,synonymous_variant,p.Phe318=,ENST00000400457,NM_032973.2;PCDH11Y,synonymous_variant,p.Phe307=,ENST00000622698,NM_001278619.2;PCDH11Y,synonymous_variant,p.Phe307=,ENST00000333703,NM_032971.3;PCDH11Y,synonymous_variant,p.Phe318=,ENST00000215473,;PCDH11Y,synonymous_variant,p.Phe318=,ENST00000362095,NM_032972.2; T ENSG00000099715 ENST00000400457 Transcript synonymous_variant 1688/9039 954/4023 318/1340 F ttC/ttT 1 NA 1 PCDH11Y HGNC HGNC:15813 protein_coding YES CCDS76066.1 ENSP00000383306 Q9BZA8.141 UPI0000071635 NM_032973.2 2/5 Gene3D:2.60.40.60,Pfam:PF00028,PROSITE_profiles:PS50268,PANTHER:PTHR24028,PANTHER:PTHR24028:SF254,SMART:SM00112,Superfamily:SSF49313,CDD:cd11304 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . TCT . 35.44 NA NA NA NA NA NA NA NA NA 5098532 PCDH11Y 83259 . GRCh38 chrY 5098534 5098534 + Missense_Mutation SNP C C A novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.956C>A p.Ser319Tyr p.S319Y ENST00000400457 2/5 NA NA NA NA NA NA PCDH11Y,missense_variant,p.Ser319Tyr,ENST00000400457,NM_032973.2;PCDH11Y,missense_variant,p.Ser308Tyr,ENST00000622698,NM_001278619.2;PCDH11Y,missense_variant,p.Ser308Tyr,ENST00000333703,NM_032971.3;PCDH11Y,missense_variant,p.Ser319Tyr,ENST00000215473,;PCDH11Y,missense_variant,p.Ser319Tyr,ENST00000362095,NM_032972.2; A ENSG00000099715 ENST00000400457 Transcript missense_variant 1690/9039 956/4023 319/1340 S/Y tCt/tAt 1 NA 1 PCDH11Y HGNC HGNC:15813 protein_coding YES CCDS76066.1 ENSP00000383306 Q9BZA8.141 UPI0000071635 NM_032973.2 tolerated(1) benign(0.003) 2/5 Gene3D:2.60.40.60,Pfam:PF00028,PROSITE_profiles:PS50268,PANTHER:PTHR24028,PANTHER:PTHR24028:SF254,SMART:SM00112,Superfamily:SSF49313,CDD:cd11304 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . TCT . 35.44 NA NA NA NA NA NA NA NA NA 5098534 PCDH11Y 83259 . GRCh38 chrY 5098544 5098544 + Silent SNP T T C novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.966T>C p.Asn322= p.N322= ENST00000400457 2/5 NA NA NA NA NA NA PCDH11Y,synonymous_variant,p.Asn322=,ENST00000400457,NM_032973.2;PCDH11Y,synonymous_variant,p.Asn311=,ENST00000622698,NM_001278619.2;PCDH11Y,synonymous_variant,p.Asn311=,ENST00000333703,NM_032971.3;PCDH11Y,synonymous_variant,p.Asn322=,ENST00000215473,;PCDH11Y,synonymous_variant,p.Asn322=,ENST00000362095,NM_032972.2; C ENSG00000099715 ENST00000400457 Transcript synonymous_variant 1700/9039 966/4023 322/1340 N aaT/aaC 1 NA 1 PCDH11Y HGNC HGNC:15813 protein_coding YES CCDS76066.1 ENSP00000383306 Q9BZA8.141 UPI0000071635 NM_032973.2 2/5 Gene3D:2.60.40.60,Pfam:PF00028,PROSITE_profiles:PS50268,PANTHER:PTHR24028,PANTHER:PTHR24028:SF254,SMART:SM00112,Superfamily:SSF49313,CDD:cd11304 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . ATC . 35.44 NA NA NA NA NA NA NA NA NA 5098544 PCDH11Y 83259 . GRCh38 chrY 5098559 5098559 + Silent SNP T T C novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.981T>C p.Ile327= p.I327= ENST00000400457 2/5 NA NA NA NA NA NA PCDH11Y,synonymous_variant,p.Ile327=,ENST00000400457,NM_032973.2;PCDH11Y,synonymous_variant,p.Ile316=,ENST00000622698,NM_001278619.2;PCDH11Y,synonymous_variant,p.Ile316=,ENST00000333703,NM_032971.3;PCDH11Y,synonymous_variant,p.Ile327=,ENST00000215473,;PCDH11Y,synonymous_variant,p.Ile327=,ENST00000362095,NM_032972.2; C ENSG00000099715 ENST00000400457 Transcript synonymous_variant 1715/9039 981/4023 327/1340 I atT/atC 1 NA 1 PCDH11Y HGNC HGNC:15813 protein_coding YES CCDS76066.1 ENSP00000383306 Q9BZA8.141 UPI0000071635 NM_032973.2 2/5 Gene3D:2.60.40.60,Pfam:PF00028,PROSITE_profiles:PS50268,PANTHER:PTHR24028,PANTHER:PTHR24028:SF254,SMART:SM00112,Superfamily:SSF49313,CDD:cd11304 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . TTG . 35.44 NA NA NA NA NA NA NA NA NA 5098559 PCDH11Y 83259 . GRCh38 chrY 5098562 5098562 + Silent SNP C C T rs1211528675 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.984C>T p.Ala328= p.A328= ENST00000400457 2/5 NA NA NA NA NA NA PCDH11Y,synonymous_variant,p.Ala328=,ENST00000400457,NM_032973.2;PCDH11Y,synonymous_variant,p.Ala317=,ENST00000622698,NM_001278619.2;PCDH11Y,synonymous_variant,p.Ala317=,ENST00000333703,NM_032971.3;PCDH11Y,synonymous_variant,p.Ala328=,ENST00000215473,;PCDH11Y,synonymous_variant,p.Ala328=,ENST00000362095,NM_032972.2; T ENSG00000099715 ENST00000400457 Transcript synonymous_variant 1718/9039 984/4023 328/1340 A gcC/gcT rs1211528675 1 NA 1 PCDH11Y HGNC HGNC:15813 protein_coding YES CCDS76066.1 ENSP00000383306 Q9BZA8.141 UPI0000071635 NM_032973.2 2/5 Gene3D:2.60.40.60,Pfam:PF00028,PROSITE_profiles:PS50268,PANTHER:PTHR24028,PANTHER:PTHR24028:SF254,SMART:SM00112,Superfamily:SSF49313,CDD:cd11304 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . CCA . 35.44 3.056e-05 NA NA NA 0.0003541 NA NA NA NA 5098562 PCDH11Y 83259 . GRCh38 chrY 5098564 5098564 + Missense_Mutation SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.986G>A p.Arg329Lys p.R329K ENST00000400457 2/5 NA NA NA NA NA NA PCDH11Y,missense_variant,p.Arg329Lys,ENST00000400457,NM_032973.2;PCDH11Y,missense_variant,p.Arg318Lys,ENST00000622698,NM_001278619.2;PCDH11Y,missense_variant,p.Arg318Lys,ENST00000333703,NM_032971.3;PCDH11Y,missense_variant,p.Arg329Lys,ENST00000215473,;PCDH11Y,missense_variant,p.Arg329Lys,ENST00000362095,NM_032972.2; A ENSG00000099715 ENST00000400457 Transcript missense_variant 1720/9039 986/4023 329/1340 R/K aGg/aAg 1 NA 1 PCDH11Y HGNC HGNC:15813 protein_coding YES CCDS76066.1 ENSP00000383306 Q9BZA8.141 UPI0000071635 NM_032973.2 tolerated(1) benign(0) 2/5 Gene3D:2.60.40.60,Pfam:PF00028,PROSITE_profiles:PS50268,PANTHER:PTHR24028,PANTHER:PTHR24028:SF254,SMART:SM00112,Superfamily:SSF49313,CDD:cd11304 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . AGG . 35.44 NA NA NA NA NA NA NA NA NA 5098564 PCDH11Y 83259 . GRCh38 chrY 5098569 5098569 + Silent SNP T T C novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.991T>C p.Leu331= p.L331= ENST00000400457 2/5 NA NA NA NA NA NA PCDH11Y,synonymous_variant,p.Leu331=,ENST00000400457,NM_032973.2;PCDH11Y,synonymous_variant,p.Leu320=,ENST00000622698,NM_001278619.2;PCDH11Y,synonymous_variant,p.Leu320=,ENST00000333703,NM_032971.3;PCDH11Y,synonymous_variant,p.Leu331=,ENST00000215473,;PCDH11Y,synonymous_variant,p.Leu331=,ENST00000362095,NM_032972.2; C ENSG00000099715 ENST00000400457 Transcript synonymous_variant 1725/9039 991/4023 331/1340 L Tta/Cta 1 NA 1 PCDH11Y HGNC HGNC:15813 protein_coding YES CCDS76066.1 ENSP00000383306 Q9BZA8.141 UPI0000071635 NM_032973.2 2/5 Gene3D:2.60.40.60,Pfam:PF00028,Prints:PR00205,PROSITE_profiles:PS50268,PANTHER:PTHR24028,PANTHER:PTHR24028:SF254,SMART:SM00112,Superfamily:SSF49313,CDD:cd11304 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . ATT . 35.44 NA NA NA NA NA NA NA NA NA 5098569 PCDH11Y 83259 . GRCh38 chrY 5098571 5098571 + Silent SNP A A G novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.993A>G p.Leu331= p.L331= ENST00000400457 2/5 NA NA NA NA NA NA PCDH11Y,synonymous_variant,p.Leu331=,ENST00000400457,NM_032973.2;PCDH11Y,synonymous_variant,p.Leu320=,ENST00000622698,NM_001278619.2;PCDH11Y,synonymous_variant,p.Leu320=,ENST00000333703,NM_032971.3;PCDH11Y,synonymous_variant,p.Leu331=,ENST00000215473,;PCDH11Y,synonymous_variant,p.Leu331=,ENST00000362095,NM_032972.2; G ENSG00000099715 ENST00000400457 Transcript synonymous_variant 1727/9039 993/4023 331/1340 L ttA/ttG 1 NA 1 PCDH11Y HGNC HGNC:15813 protein_coding YES CCDS76066.1 ENSP00000383306 Q9BZA8.141 UPI0000071635 NM_032973.2 2/5 Gene3D:2.60.40.60,Pfam:PF00028,Prints:PR00205,PROSITE_profiles:PS50268,PANTHER:PTHR24028,PANTHER:PTHR24028:SF254,SMART:SM00112,Superfamily:SSF49313,CDD:cd11304 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . TAT . 35.44 NA NA NA NA NA NA NA NA NA 5098571 PCDH11Y 83259 . GRCh38 chrY 5098577 5098577 + Silent SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.999C>T p.His333= p.H333= ENST00000400457 2/5 NA NA NA NA NA NA PCDH11Y,synonymous_variant,p.His333=,ENST00000400457,NM_032973.2;PCDH11Y,synonymous_variant,p.His322=,ENST00000622698,NM_001278619.2;PCDH11Y,synonymous_variant,p.His322=,ENST00000333703,NM_032971.3;PCDH11Y,synonymous_variant,p.His333=,ENST00000215473,;PCDH11Y,synonymous_variant,p.His333=,ENST00000362095,NM_032972.2; T ENSG00000099715 ENST00000400457 Transcript synonymous_variant 1733/9039 999/4023 333/1340 H caC/caT 1 NA 1 PCDH11Y HGNC HGNC:15813 protein_coding YES CCDS76066.1 ENSP00000383306 Q9BZA8.141 UPI0000071635 NM_032973.2 2/5 Gene3D:2.60.40.60,Pfam:PF00028,Prints:PR00205,PROSITE_profiles:PS50268,PANTHER:PTHR24028,PANTHER:PTHR24028:SF254,SMART:SM00112,Superfamily:SSF49313,CDD:cd11304 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . ACC . 35.44 NA NA NA NA NA NA NA NA NA 5098577 PCDH11Y 83259 . GRCh38 chrY 5098580 5098580 + Silent SNP C C A novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1002C>A p.Leu334= p.L334= ENST00000400457 2/5 NA NA NA NA NA NA PCDH11Y,synonymous_variant,p.Leu334=,ENST00000400457,NM_032973.2;PCDH11Y,synonymous_variant,p.Leu323=,ENST00000622698,NM_001278619.2;PCDH11Y,synonymous_variant,p.Leu323=,ENST00000333703,NM_032971.3;PCDH11Y,synonymous_variant,p.Leu334=,ENST00000215473,;PCDH11Y,synonymous_variant,p.Leu334=,ENST00000362095,NM_032972.2; A ENSG00000099715 ENST00000400457 Transcript synonymous_variant 1736/9039 1002/4023 334/1340 L ctC/ctA 1 NA 1 PCDH11Y HGNC HGNC:15813 protein_coding YES CCDS76066.1 ENSP00000383306 Q9BZA8.141 UPI0000071635 NM_032973.2 2/5 Gene3D:2.60.40.60,Pfam:PF00028,Prints:PR00205,PROSITE_profiles:PS50268,PANTHER:PTHR24028,PANTHER:PTHR24028:SF254,SMART:SM00112,Superfamily:SSF49313,CDD:cd11304 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . TCA . 35.44 NA NA NA NA NA NA NA NA NA 5098580 PCDH11Y 83259 . GRCh38 chrY 5098583 5098583 + Silent SNP T T C novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1005T>C p.Asn335= p.N335= ENST00000400457 2/5 NA NA NA NA NA NA PCDH11Y,synonymous_variant,p.Asn335=,ENST00000400457,NM_032973.2;PCDH11Y,synonymous_variant,p.Asn324=,ENST00000622698,NM_001278619.2;PCDH11Y,synonymous_variant,p.Asn324=,ENST00000333703,NM_032971.3;PCDH11Y,synonymous_variant,p.Asn335=,ENST00000215473,;PCDH11Y,synonymous_variant,p.Asn335=,ENST00000362095,NM_032972.2; C ENSG00000099715 ENST00000400457 Transcript synonymous_variant 1739/9039 1005/4023 335/1340 N aaT/aaC 1 NA 1 PCDH11Y HGNC HGNC:15813 protein_coding YES CCDS76066.1 ENSP00000383306 Q9BZA8.141 UPI0000071635 NM_032973.2 2/5 Gene3D:2.60.40.60,Pfam:PF00028,Prints:PR00205,PROSITE_profiles:PS50268,PANTHER:PTHR24028,PANTHER:PTHR24028:SF254,SMART:SM00112,Superfamily:SSF49313,CDD:cd11304 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . ATG . 35.44 NA NA NA NA NA NA NA NA NA 5098583 PCDH11Y 83259 . GRCh38 chrY 5098584 5098584 + Missense_Mutation SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1006G>A p.Ala336Thr p.A336T ENST00000400457 2/5 NA NA NA NA NA NA PCDH11Y,missense_variant,p.Ala336Thr,ENST00000400457,NM_032973.2;PCDH11Y,missense_variant,p.Ala325Thr,ENST00000622698,NM_001278619.2;PCDH11Y,missense_variant,p.Ala325Thr,ENST00000333703,NM_032971.3;PCDH11Y,missense_variant,p.Ala336Thr,ENST00000215473,;PCDH11Y,missense_variant,p.Ala336Thr,ENST00000362095,NM_032972.2; A ENSG00000099715 ENST00000400457 Transcript missense_variant 1740/9039 1006/4023 336/1340 A/T Gcc/Acc 1 NA 1 PCDH11Y HGNC HGNC:15813 protein_coding YES CCDS76066.1 ENSP00000383306 Q9BZA8.141 UPI0000071635 NM_032973.2 tolerated(0.5) benign(0) 2/5 Gene3D:2.60.40.60,Pfam:PF00028,Prints:PR00205,PROSITE_profiles:PS50268,PANTHER:PTHR24028,PANTHER:PTHR24028:SF254,SMART:SM00112,Superfamily:SSF49313,CDD:cd11304 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . TGC . 35.44 NA NA NA NA NA NA NA NA NA 5098584 PCDH11Y 83259 . GRCh38 chrY 5098589 5098589 + Silent SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1011C>T p.Thr337= p.T337= ENST00000400457 2/5 NA NA NA NA NA NA PCDH11Y,synonymous_variant,p.Thr337=,ENST00000400457,NM_032973.2;PCDH11Y,synonymous_variant,p.Thr326=,ENST00000622698,NM_001278619.2;PCDH11Y,synonymous_variant,p.Thr326=,ENST00000333703,NM_032971.3;PCDH11Y,synonymous_variant,p.Thr337=,ENST00000215473,;PCDH11Y,synonymous_variant,p.Thr337=,ENST00000362095,NM_032972.2; T ENSG00000099715 ENST00000400457 Transcript synonymous_variant 1745/9039 1011/4023 337/1340 T acC/acT 1 NA 1 PCDH11Y HGNC HGNC:15813 protein_coding YES CCDS76066.1 ENSP00000383306 Q9BZA8.141 UPI0000071635 NM_032973.2 2/5 Gene3D:2.60.40.60,Pfam:PF00028,Prints:PR00205,PROSITE_profiles:PS50268,PANTHER:PTHR24028,PANTHER:PTHR24028:SF254,SMART:SM00112,Superfamily:SSF49313,CDD:cd11304 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . CCA . 35.44 NA NA NA NA NA NA NA NA NA 5098589 TBL1Y 90665 . GRCh38 chrY 7074577 7074577 + Silent SNP T T C novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.912T>C p.Asp304= p.D304= ENST00000383032 13/19 NA NA NA NA NA NA TBL1Y,synonymous_variant,p.Asp304=,ENST00000383032,NM_033284.2;TBL1Y,synonymous_variant,p.Asp304=,ENST00000355162,NM_134258.1;TBL1Y,synonymous_variant,p.Asp304=,ENST00000346432,NM_134259.1; C ENSG00000092377 ENST00000383032 Transcript synonymous_variant 1548/2396 912/1569 304/522 D gaT/gaC 1 NA 1 TBL1Y HGNC HGNC:18502 protein_coding YES CCDS14779.1 ENSP00000372499 Q9BQ87.152 A0A024R189.54 UPI0000136A73 NM_033284.2 13/19 Gene3D:2.130.10.10,Pfam:PF00400,PROSITE_patterns:PS00678,PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,PANTHER:PTHR22846,PANTHER:PTHR22846:SF53,SMART:SM00320,Superfamily:SSF50978,CDD:cd00200 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . ATG . 37.28 NA NA NA NA NA NA NA NA NA 7074577 TBL1Y 90665 . GRCh38 chrY 7074601 7074601 + Silent SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.936G>A p.Gln312= p.Q312= ENST00000383032 13/19 NA NA NA NA NA NA TBL1Y,synonymous_variant,p.Gln312=,ENST00000383032,NM_033284.2;TBL1Y,synonymous_variant,p.Gln312=,ENST00000355162,NM_134258.1;TBL1Y,synonymous_variant,p.Gln312=,ENST00000346432,NM_134259.1; A ENSG00000092377 ENST00000383032 Transcript synonymous_variant 1572/2396 936/1569 312/522 Q caG/caA 1 NA 1 TBL1Y HGNC HGNC:18502 protein_coding YES CCDS14779.1 ENSP00000372499 Q9BQ87.152 A0A024R189.54 UPI0000136A73 NM_033284.2 13/19 Gene3D:2.130.10.10,PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,PANTHER:PTHR22846,PANTHER:PTHR22846:SF53,SMART:SM00320,Superfamily:SSF50978,CDD:cd00200 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . AGC . 37.28 NA NA NA NA NA NA NA NA NA 7074601 USP9Y 8287 . GRCh38 chrY 12773604 12773604 + Silent SNP A A G novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2010A>G p.Gln670= p.Q670= ENST00000338981 17/46 NA NA NA NA NA NA USP9Y,synonymous_variant,p.Gln670=,ENST00000338981,NM_004654.4;USP9Y,synonymous_variant,p.Gln670=,ENST00000651177,;USP9Y,non_coding_transcript_exon_variant,,ENST00000426564,; G ENSG00000114374 ENST00000338981 Transcript synonymous_variant 2955/10036 2010/7668 670/2555 Q caA/caG 1 NA 1 USP9Y HGNC HGNC:12633 protein_coding YES CCDS14781.1 ENSP00000342812 O00507.187 UPI00001AE67D NM_004654.4 17/46 Superfamily:SSF48371 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . AAC . 78.28 NA NA NA NA NA NA NA NA NA 12773604 USP9Y 8287 . GRCh38 chrY 12773613 12773613 + Silent SNP C C G novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2019C>G p.Leu673= p.L673= ENST00000338981 17/46 NA NA NA NA NA NA USP9Y,synonymous_variant,p.Leu673=,ENST00000338981,NM_004654.4;USP9Y,synonymous_variant,p.Leu673=,ENST00000651177,;USP9Y,non_coding_transcript_exon_variant,,ENST00000426564,; G ENSG00000114374 ENST00000338981 Transcript synonymous_variant 2964/10036 2019/7668 673/2555 L ctC/ctG 1 NA 1 USP9Y HGNC HGNC:12633 protein_coding YES CCDS14781.1 ENSP00000342812 O00507.187 UPI00001AE67D NM_004654.4 17/46 Superfamily:SSF48371 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . TCT . 78.28 NA NA NA NA NA NA NA NA NA 12773613 USP9Y 8287 . GRCh38 chrY 12773622 12773622 + Silent SNP T T A novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2028T>A p.Pro676= p.P676= ENST00000338981 17/46 NA NA NA NA NA NA USP9Y,synonymous_variant,p.Pro676=,ENST00000338981,NM_004654.4;USP9Y,synonymous_variant,p.Pro676=,ENST00000651177,;USP9Y,non_coding_transcript_exon_variant,,ENST00000426564,; A ENSG00000114374 ENST00000338981 Transcript synonymous_variant 2973/10036 2028/7668 676/2555 P ccT/ccA 1 NA 1 USP9Y HGNC HGNC:12633 protein_coding YES CCDS14781.1 ENSP00000342812 O00507.187 UPI00001AE67D NM_004654.4 17/46 Superfamily:SSF48371 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . CTC . 78.28 NA NA NA NA NA NA NA NA NA 12773622 USP9Y 8287 . GRCh38 chrY 12773655 12773655 + Silent SNP A A G novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2061A>G p.Glu687= p.E687= ENST00000338981 17/46 NA NA NA NA NA NA USP9Y,synonymous_variant,p.Glu687=,ENST00000338981,NM_004654.4;USP9Y,synonymous_variant,p.Glu687=,ENST00000651177,;USP9Y,non_coding_transcript_exon_variant,,ENST00000426564,; G ENSG00000114374 ENST00000338981 Transcript synonymous_variant 3006/10036 2061/7668 687/2555 E gaA/gaG 1 NA 1 USP9Y HGNC HGNC:12633 protein_coding YES CCDS14781.1 ENSP00000342812 O00507.187 UPI00001AE67D NM_004654.4 17/46 Superfamily:SSF48371 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . AAA . 78.28 NA NA NA NA NA NA NA NA NA 12773655 USP9Y 8287 . GRCh38 chrY 12773661 12773661 + Silent SNP A A G novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2067A>G p.Ala689= p.A689= ENST00000338981 17/46 NA NA NA NA NA NA USP9Y,synonymous_variant,p.Ala689=,ENST00000338981,NM_004654.4;USP9Y,synonymous_variant,p.Ala689=,ENST00000651177,;USP9Y,non_coding_transcript_exon_variant,,ENST00000426564,; G ENSG00000114374 ENST00000338981 Transcript synonymous_variant 3012/10036 2067/7668 689/2555 A gcA/gcG 1 NA 1 USP9Y HGNC HGNC:12633 protein_coding YES CCDS14781.1 ENSP00000342812 O00507.187 UPI00001AE67D NM_004654.4 17/46 Superfamily:SSF48371 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . CAG . 78.28 NA NA NA NA NA NA NA NA NA 12773661 USP9Y 8287 . GRCh38 chrY 12779552 12779552 + Silent SNP C C A novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3057C>A p.Ile1019= p.I1019= ENST00000338981 22/46 NA NA NA NA NA NA USP9Y,synonymous_variant,p.Ile1019=,ENST00000338981,NM_004654.4;USP9Y,synonymous_variant,p.Ile1019=,ENST00000651177,;USP9Y,non_coding_transcript_exon_variant,,ENST00000426564,; A ENSG00000114374 ENST00000338981 Transcript synonymous_variant 4002/10036 3057/7668 1019/2555 I atC/atA 1 NA 1 USP9Y HGNC HGNC:12633 protein_coding YES CCDS14781.1 ENSP00000342812 O00507.187 UPI00001AE67D NM_004654.4 22/46 PANTHER:PTHR24006,PANTHER:PTHR24006:SF693,Superfamily:SSF48371 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . TCT . 61.28 NA NA NA NA NA NA NA NA NA 12779552 USP9Y 8287 . GRCh38 chrY 12779587 12779587 + Missense_Mutation SNP A A T novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3092A>T p.Asn1031Ile p.N1031I ENST00000338981 22/46 NA NA NA NA NA NA USP9Y,missense_variant,p.Asn1031Ile,ENST00000338981,NM_004654.4;USP9Y,missense_variant,p.Asn1031Ile,ENST00000651177,;USP9Y,non_coding_transcript_exon_variant,,ENST00000426564,; T ENSG00000114374 ENST00000338981 Transcript missense_variant 4037/10036 3092/7668 1031/2555 N/I aAc/aTc 1 NA 1 USP9Y HGNC HGNC:12633 protein_coding YES CCDS14781.1 ENSP00000342812 O00507.187 UPI00001AE67D NM_004654.4 tolerated(0.19) benign(0.01) 22/46 PANTHER:PTHR24006,PANTHER:PTHR24006:SF693,Superfamily:SSF48371 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . AAC . 166.1 NA NA NA NA NA NA NA NA NA 12779587 USP9Y 8287 . GRCh38 chrY 12779588 12779588 + Missense_Mutation SNP C C G novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3093C>G p.Asn1031Lys p.N1031K ENST00000338981 22/46 NA NA NA NA NA NA USP9Y,missense_variant,p.Asn1031Lys,ENST00000338981,NM_004654.4;USP9Y,missense_variant,p.Asn1031Lys,ENST00000651177,;USP9Y,non_coding_transcript_exon_variant,,ENST00000426564,; G ENSG00000114374 ENST00000338981 Transcript missense_variant 4038/10036 3093/7668 1031/2555 N/K aaC/aaG 1 NA 1 USP9Y HGNC HGNC:12633 protein_coding YES CCDS14781.1 ENSP00000342812 O00507.187 UPI00001AE67D NM_004654.4 tolerated(0.67) benign(0.001) 22/46 PANTHER:PTHR24006,PANTHER:PTHR24006:SF693,Superfamily:SSF48371 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . ACC . 166.1 NA NA NA NA NA NA NA NA NA 12779588 USP9Y 8287 . GRCh38 chrY 12779589 12779589 + Silent SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3094C>T p.Leu1032= p.L1032= ENST00000338981 22/46 NA NA NA NA NA NA USP9Y,synonymous_variant,p.Leu1032=,ENST00000338981,NM_004654.4;USP9Y,synonymous_variant,p.Leu1032=,ENST00000651177,;USP9Y,non_coding_transcript_exon_variant,,ENST00000426564,; T ENSG00000114374 ENST00000338981 Transcript synonymous_variant 4039/10036 3094/7668 1032/2555 L Ctg/Ttg 1 NA 1 USP9Y HGNC HGNC:12633 protein_coding YES CCDS14781.1 ENSP00000342812 O00507.187 UPI00001AE67D NM_004654.4 22/46 PANTHER:PTHR24006,PANTHER:PTHR24006:SF693,Superfamily:SSF48371 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . CCT . 166.1 NA NA NA NA NA NA NA NA NA 12779589 USP9Y 8287 . GRCh38 chrY 12779593 12779593 + Missense_Mutation SNP A A C novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3098A>C p.Asn1033Thr p.N1033T ENST00000338981 22/46 NA NA NA NA NA NA USP9Y,missense_variant,p.Asn1033Thr,ENST00000338981,NM_004654.4;USP9Y,missense_variant,p.Asn1033Thr,ENST00000651177,;USP9Y,non_coding_transcript_exon_variant,,ENST00000426564,; C ENSG00000114374 ENST00000338981 Transcript missense_variant 4043/10036 3098/7668 1033/2555 N/T aAt/aCt 1 NA 1 USP9Y HGNC HGNC:12633 protein_coding YES CCDS14781.1 ENSP00000342812 O00507.187 UPI00001AE67D NM_004654.4 tolerated(0.38) benign(0) 22/46 PANTHER:PTHR24006,PANTHER:PTHR24006:SF693,Superfamily:SSF48371 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . AAT . 166.1 NA NA NA NA NA NA NA NA NA 12779593 USP9Y 8287 . GRCh38 chrY 12779595 12779595 + Missense_Mutation SNP A A G novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3100A>G p.Met1034Val p.M1034V ENST00000338981 22/46 NA NA NA NA NA NA USP9Y,missense_variant,p.Met1034Val,ENST00000338981,NM_004654.4;USP9Y,missense_variant,p.Met1034Val,ENST00000651177,;USP9Y,non_coding_transcript_exon_variant,,ENST00000426564,; G ENSG00000114374 ENST00000338981 Transcript missense_variant 4045/10036 3100/7668 1034/2555 M/V Atg/Gtg 1 NA 1 USP9Y HGNC HGNC:12633 protein_coding YES CCDS14781.1 ENSP00000342812 O00507.187 UPI00001AE67D NM_004654.4 tolerated(0.51) benign(0) 22/46 PANTHER:PTHR24006,PANTHER:PTHR24006:SF693,Superfamily:SSF48371 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . TAT . 166.1 NA NA NA NA NA NA NA NA NA 12779595 USP9Y 8287 . GRCh38 chrY 12779601 12779601 + Missense_Mutation SNP C C A novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3106C>A p.Pro1036Thr p.P1036T ENST00000338981 22/46 NA NA NA NA NA NA USP9Y,missense_variant,p.Pro1036Thr,ENST00000338981,NM_004654.4;USP9Y,missense_variant,p.Pro1036Thr,ENST00000651177,;USP9Y,non_coding_transcript_exon_variant,,ENST00000426564,; A ENSG00000114374 ENST00000338981 Transcript missense_variant 4051/10036 3106/7668 1036/2555 P/T Cct/Act 1 NA 1 USP9Y HGNC HGNC:12633 protein_coding YES CCDS14781.1 ENSP00000342812 O00507.187 UPI00001AE67D NM_004654.4 tolerated(0.51) benign(0) 22/46 PANTHER:PTHR24006,PANTHER:PTHR24006:SF693,Superfamily:SSF48371 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . ACC . 190.92 NA NA NA NA NA NA NA NA NA 12779601 USP9Y 8287 . GRCh38 chrY 12779622 12779622 + Missense_Mutation SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3127G>A p.Val1043Ile p.V1043I ENST00000338981 22/46 NA NA NA NA NA NA USP9Y,missense_variant,p.Val1043Ile,ENST00000338981,NM_004654.4;USP9Y,missense_variant,p.Val1043Ile,ENST00000651177,;USP9Y,non_coding_transcript_exon_variant,,ENST00000426564,; A ENSG00000114374 ENST00000338981 Transcript missense_variant 4072/10036 3127/7668 1043/2555 V/I Gta/Ata 1 NA 1 USP9Y HGNC HGNC:12633 protein_coding YES CCDS14781.1 ENSP00000342812 O00507.187 UPI00001AE67D NM_004654.4 tolerated(0.44) benign(0) 22/46 PANTHER:PTHR24006,PANTHER:PTHR24006:SF693,Superfamily:SSF48371 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . AGT . 190.92 NA NA NA NA NA NA NA NA NA 12779622 USP9Y 8287 . GRCh38 chrY 12833718 12833718 + Silent SNP A A G novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.5052A>G p.Glu1684= p.E1684= ENST00000338981 34/46 NA NA NA NA NA NA USP9Y,synonymous_variant,p.Glu1684=,ENST00000338981,NM_004654.4;USP9Y,synonymous_variant,p.Glu1684=,ENST00000651177,;USP9Y,non_coding_transcript_exon_variant,,ENST00000426564,; G ENSG00000114374 ENST00000338981 Transcript synonymous_variant 5997/10036 5052/7668 1684/2555 E gaA/gaG 1 NA 1 USP9Y HGNC HGNC:12633 protein_coding YES CCDS14781.1 ENSP00000342812 O00507.187 UPI00001AE67D NM_004654.4 34/46 Pfam:PF00443,PROSITE_profiles:PS50235,PANTHER:PTHR24006,PANTHER:PTHR24006:SF693,Superfamily:SSF48371,Superfamily:SSF54001,CDD:cd02659 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . AAC . 121.8 NA NA NA NA NA NA NA NA NA 12833718 USP9Y 8287 . GRCh38 chrY 12833730 12833730 + Silent SNP C C A novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.5064C>A p.Ala1688= p.A1688= ENST00000338981 34/46 NA NA NA NA NA NA USP9Y,synonymous_variant,p.Ala1688=,ENST00000338981,NM_004654.4;USP9Y,synonymous_variant,p.Ala1688=,ENST00000651177,;USP9Y,non_coding_transcript_exon_variant,,ENST00000426564,; A ENSG00000114374 ENST00000338981 Transcript synonymous_variant 6009/10036 5064/7668 1688/2555 A gcC/gcA 1 NA 1 USP9Y HGNC HGNC:12633 protein_coding YES CCDS14781.1 ENSP00000342812 O00507.187 UPI00001AE67D NM_004654.4 34/46 Pfam:PF00443,PROSITE_profiles:PS50235,PANTHER:PTHR24006,PANTHER:PTHR24006:SF693,Superfamily:SSF48371,Superfamily:SSF54001,CDD:cd02659 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . CCT . 121.8 NA NA NA NA NA NA NA NA NA 12833730 USP9Y 8287 . GRCh38 chrY 12833775 12833775 + Missense_Mutation SNP A A T novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.5109A>T p.Leu1703Phe p.L1703F ENST00000338981 34/46 NA NA NA NA NA NA USP9Y,missense_variant,p.Leu1703Phe,ENST00000338981,NM_004654.4;USP9Y,missense_variant,p.Leu1703Phe,ENST00000651177,;USP9Y,non_coding_transcript_exon_variant,,ENST00000426564,; T ENSG00000114374 ENST00000338981 Transcript missense_variant 6054/10036 5109/7668 1703/2555 L/F ttA/ttT 1 NA 1 USP9Y HGNC HGNC:12633 protein_coding YES CCDS14781.1 ENSP00000342812 O00507.187 UPI00001AE67D NM_004654.4 deleterious(0.03) benign(0.35) 34/46 Pfam:PF00443,PROSITE_profiles:PS50235,PANTHER:PTHR24006,PANTHER:PTHR24006:SF693,Superfamily:SSF48371,Superfamily:SSF54001,CDD:cd02659 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . TAA . 166.1 NA NA NA NA NA NA NA NA NA 12833775 USP9Y 8287 . GRCh38 chrY 12833788 12833788 + Missense_Mutation SNP C C T rs1476835539 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.5122C>T p.His1708Tyr p.H1708Y ENST00000338981 34/46 NA NA NA NA NA NA USP9Y,missense_variant,p.His1708Tyr,ENST00000338981,NM_004654.4;USP9Y,missense_variant,p.His1708Tyr,ENST00000651177,;USP9Y,non_coding_transcript_exon_variant,,ENST00000426564,; T ENSG00000114374 ENST00000338981 Transcript missense_variant 6067/10036 5122/7668 1708/2555 H/Y Cac/Tac rs1476835539 1 NA 1 USP9Y HGNC HGNC:12633 protein_coding YES CCDS14781.1 ENSP00000342812 O00507.187 UPI00001AE67D NM_004654.4 tolerated(0.39) benign(0.02) 34/46 Pfam:PF00443,PROSITE_profiles:PS50235,PANTHER:PTHR24006,PANTHER:PTHR24006:SF693,Superfamily:SSF48371,Superfamily:SSF54001,CDD:cd02659 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . ACA . 166.1 1.477e-05 NA 0.0001404 NA NA NA NA NA NA 12833788 USP9Y 8287 . GRCh38 chrY 12833790 12833790 + Silent SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.5124C>T p.His1708= p.H1708= ENST00000338981 34/46 NA NA NA NA NA NA USP9Y,synonymous_variant,p.His1708=,ENST00000338981,NM_004654.4;USP9Y,synonymous_variant,p.His1708=,ENST00000651177,;USP9Y,non_coding_transcript_exon_variant,,ENST00000426564,; T ENSG00000114374 ENST00000338981 Transcript synonymous_variant 6069/10036 5124/7668 1708/2555 H caC/caT 1 NA 1 USP9Y HGNC HGNC:12633 protein_coding YES CCDS14781.1 ENSP00000342812 O00507.187 UPI00001AE67D NM_004654.4 34/46 Pfam:PF00443,PROSITE_profiles:PS50235,PANTHER:PTHR24006,PANTHER:PTHR24006:SF693,Superfamily:SSF48371,Superfamily:SSF54001,CDD:cd02659 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . ACC . 166.1 NA NA NA NA NA NA NA NA NA 12833790 USP9Y 8287 . GRCh38 chrY 12833793 12833793 + Silent SNP G G A rs757978496 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.5127G>A p.Pro1709= p.P1709= ENST00000338981 34/46 NA NA NA NA NA NA USP9Y,synonymous_variant,p.Pro1709=,ENST00000338981,NM_004654.4;USP9Y,synonymous_variant,p.Pro1709=,ENST00000651177,;USP9Y,non_coding_transcript_exon_variant,,ENST00000426564,; A ENSG00000114374 ENST00000338981 Transcript synonymous_variant 6072/10036 5127/7668 1709/2555 P ccG/ccA rs757978496 1 NA 1 USP9Y HGNC HGNC:12633 protein_coding YES CCDS14781.1 ENSP00000342812 O00507.187 UPI00001AE67D NM_004654.4 34/46 Pfam:PF00443,PROSITE_profiles:PS50235,PANTHER:PTHR24006,PANTHER:PTHR24006:SF693,Superfamily:SSF48371,Superfamily:SSF54001,CDD:cd02659 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . CGG . 166.1 4.434e-05 NA NA NA NA NA 9.487e-05 NA NA 12833793 USP9Y 8287 . GRCh38 chrY 12833794 12833794 + Missense_Mutation SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.5128G>A p.Ala1710Thr p.A1710T ENST00000338981 34/46 NA NA NA NA NA NA USP9Y,missense_variant,p.Ala1710Thr,ENST00000338981,NM_004654.4;USP9Y,missense_variant,p.Ala1710Thr,ENST00000651177,;USP9Y,non_coding_transcript_exon_variant,,ENST00000426564,; A ENSG00000114374 ENST00000338981 Transcript missense_variant 6073/10036 5128/7668 1710/2555 A/T Gct/Act 1 NA 1 USP9Y HGNC HGNC:12633 protein_coding YES CCDS14781.1 ENSP00000342812 O00507.187 UPI00001AE67D NM_004654.4 tolerated(1) benign(0.003) 34/46 Pfam:PF00443,PROSITE_profiles:PS50235,PANTHER:PTHR24006,PANTHER:PTHR24006:SF693,Superfamily:SSF48371,Superfamily:SSF54001,CDD:cd02659 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . GGC . 166.1 NA NA NA NA NA NA NA NA NA 12833794 USP9Y 8287 . GRCh38 chrY 12833797 12833797 + Missense_Mutation SNP A A G novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.5131A>G p.Ile1711Val p.I1711V ENST00000338981 34/46 NA NA NA NA NA NA USP9Y,missense_variant,p.Ile1711Val,ENST00000338981,NM_004654.4;USP9Y,missense_variant,p.Ile1711Val,ENST00000651177,;USP9Y,non_coding_transcript_exon_variant,,ENST00000426564,; G ENSG00000114374 ENST00000338981 Transcript missense_variant 6076/10036 5131/7668 1711/2555 I/V Ata/Gta 1 NA 1 USP9Y HGNC HGNC:12633 protein_coding YES CCDS14781.1 ENSP00000342812 O00507.187 UPI00001AE67D NM_004654.4 tolerated(0.65) benign(0.007) 34/46 Pfam:PF00443,PROSITE_profiles:PS50235,PANTHER:PTHR24006,PANTHER:PTHR24006:SF693,Superfamily:SSF48371,Superfamily:SSF54001,CDD:cd02659 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . TAT . 166.1 NA NA NA NA NA NA NA NA NA 12833797 USP9Y 8287 . GRCh38 chrY 12833799 12833799 + Missense_Mutation SNP A A G rs1465573121 NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.5133A>G p.Ile1711Met p.I1711M ENST00000338981 34/46 NA NA NA NA NA NA USP9Y,missense_variant,p.Ile1711Met,ENST00000338981,NM_004654.4;USP9Y,missense_variant,p.Ile1711Met,ENST00000651177,;USP9Y,non_coding_transcript_exon_variant,,ENST00000426564,; G ENSG00000114374 ENST00000338981 Transcript missense_variant 6078/10036 5133/7668 1711/2555 I/M atA/atG rs1465573121 1 NA 1 USP9Y HGNC HGNC:12633 protein_coding YES CCDS14781.1 ENSP00000342812 O00507.187 UPI00001AE67D NM_004654.4 tolerated(0.59) benign(0.039) 34/46 Pfam:PF00443,PROSITE_profiles:PS50235,PANTHER:PTHR24006,PANTHER:PTHR24006:SF693,Superfamily:SSF48371,Superfamily:SSF54001,CDD:cd02659 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . TAC . 166.1 1.478e-05 NA NA NA NA NA NA NA 8.697e-05 12833799 USP9Y 8287 . GRCh38 chrY 12833802 12833802 + Silent SNP A A T novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.5136A>T p.Leu1712= p.L1712= ENST00000338981 34/46 NA NA NA NA NA NA USP9Y,synonymous_variant,p.Leu1712=,ENST00000338981,NM_004654.4;USP9Y,synonymous_variant,p.Leu1712=,ENST00000651177,;USP9Y,non_coding_transcript_exon_variant,,ENST00000426564,; T ENSG00000114374 ENST00000338981 Transcript synonymous_variant 6081/10036 5136/7668 1712/2555 L ctA/ctT 1 NA 1 USP9Y HGNC HGNC:12633 protein_coding YES CCDS14781.1 ENSP00000342812 O00507.187 UPI00001AE67D NM_004654.4 34/46 Pfam:PF00443,PROSITE_profiles:PS50235,PANTHER:PTHR24006,PANTHER:PTHR24006:SF693,Superfamily:SSF48371,Superfamily:SSF54001,CDD:cd02659 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . TAA . 166.1 NA NA NA NA NA NA NA NA NA 12833802 USP9Y 8287 . GRCh38 chrY 12833814 12833814 + Silent SNP A A T novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.5148A>T p.Leu1716= p.L1716= ENST00000338981 34/46 NA NA NA NA NA NA USP9Y,synonymous_variant,p.Leu1716=,ENST00000338981,NM_004654.4;USP9Y,synonymous_variant,p.Leu1716=,ENST00000651177,;USP9Y,non_coding_transcript_exon_variant,,ENST00000426564,; T ENSG00000114374 ENST00000338981 Transcript synonymous_variant 6093/10036 5148/7668 1716/2555 L ctA/ctT 1 NA 1 USP9Y HGNC HGNC:12633 protein_coding YES CCDS14781.1 ENSP00000342812 O00507.187 UPI00001AE67D NM_004654.4 34/46 Pfam:PF00443,PROSITE_profiles:PS50235,PANTHER:PTHR24006,PANTHER:PTHR24006:SF693,Superfamily:SSF48371,Superfamily:SSF54001,CDD:cd02659 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . TAG . 166.1 NA NA NA NA NA NA NA NA NA 12833814 USP9Y 8287 . GRCh38 chrY 12833820 12833820 + Silent SNP C C A novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.5154C>A p.Gly1718= p.G1718= ENST00000338981 34/46 NA NA NA NA NA NA USP9Y,synonymous_variant,p.Gly1718=,ENST00000338981,NM_004654.4;USP9Y,synonymous_variant,p.Gly1718=,ENST00000651177,;USP9Y,non_coding_transcript_exon_variant,,ENST00000426564,; A ENSG00000114374 ENST00000338981 Transcript synonymous_variant 6099/10036 5154/7668 1718/2555 G ggC/ggA 1 NA 1 USP9Y HGNC HGNC:12633 protein_coding YES CCDS14781.1 ENSP00000342812 O00507.187 UPI00001AE67D NM_004654.4 34/46 Pfam:PF00443,PROSITE_profiles:PS50235,PANTHER:PTHR24006,PANTHER:PTHR24006:SF693,Superfamily:SSF48371,Superfamily:SSF54001,CDD:cd02659 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . GCT . 166.1 NA NA NA NA NA NA NA NA NA 12833820 DDX3Y 8653 . GRCh38 chrY 12913771 12913771 + Silent SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.591C>T p.Arg197= p.R197= ENST00000336079 7/17 NA NA NA NA NA NA DDX3Y,synonymous_variant,p.Arg197=,ENST00000336079,NM_001324195.1,NM_004660.5,NM_001302552.2;DDX3Y,synonymous_variant,p.Arg197=,ENST00000360160,NM_001122665.3;DDX3Y,synonymous_variant,p.Arg197=,ENST00000454054,;DDX3Y,synonymous_variant,p.Arg194=,ENST00000440554,;DDX3Y,non_coding_transcript_exon_variant,,ENST00000463199,;DDX3Y,non_coding_transcript_exon_variant,,ENST00000472510,;DDX3Y,non_coding_transcript_exon_variant,,ENST00000469101,;DDX3Y,downstream_gene_variant,,ENST00000493363,;DDX3Y,upstream_gene_variant,,ENST00000495478,; T ENSG00000067048 ENST00000336079 Transcript synonymous_variant 660/4408 591/1983 197/660 R cgC/cgT 1 NA 1 DDX3Y HGNC HGNC:2699 protein_coding YES CCDS14782.1 ENSP00000336725 O15523.190 A0A024R9A4.56 UPI00000741D9 NM_001324195.1,NM_004660.5,NM_001302552.2 7/17 Gene3D:3.40.50.300,PROSITE_profiles:PS51195,PANTHER:PTHR24031,PANTHER:PTHR24031:SF584,SMART:SM00487,CDD:cd18051 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . GCT . 78.28 NA NA NA NA NA NA NA NA NA 12913771 DDX3Y 8653 . GRCh38 chrY 12913774 12913774 + Silent SNP T T C novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.594T>C p.Tyr198= p.Y198= ENST00000336079 7/17 NA NA NA NA NA NA DDX3Y,synonymous_variant,p.Tyr198=,ENST00000336079,NM_001324195.1,NM_004660.5,NM_001302552.2;DDX3Y,synonymous_variant,p.Tyr198=,ENST00000360160,NM_001122665.3;DDX3Y,synonymous_variant,p.Tyr198=,ENST00000454054,;DDX3Y,synonymous_variant,p.Tyr195=,ENST00000440554,;DDX3Y,non_coding_transcript_exon_variant,,ENST00000463199,;DDX3Y,non_coding_transcript_exon_variant,,ENST00000472510,;DDX3Y,non_coding_transcript_exon_variant,,ENST00000469101,;DDX3Y,downstream_gene_variant,,ENST00000493363,;DDX3Y,upstream_gene_variant,,ENST00000495478,; C ENSG00000067048 ENST00000336079 Transcript synonymous_variant 663/4408 594/1983 198/660 Y taT/taC 1 NA 1 DDX3Y HGNC HGNC:2699 protein_coding YES CCDS14782.1 ENSP00000336725 O15523.190 A0A024R9A4.56 UPI00000741D9 NM_001324195.1,NM_004660.5,NM_001302552.2 7/17 Gene3D:3.40.50.300,PROSITE_profiles:PS51195,PANTHER:PTHR24031,PANTHER:PTHR24031:SF584,SMART:SM00487,CDD:cd18051 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . ATA . 78.28 NA NA NA NA NA NA NA NA NA 12913774 DDX3Y 8653 . GRCh38 chrY 12913804 12913804 + Silent SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.624C>T p.Ala208= p.A208= ENST00000336079 7/17 NA NA NA NA NA NA DDX3Y,synonymous_variant,p.Ala208=,ENST00000336079,NM_001324195.1,NM_004660.5,NM_001302552.2;DDX3Y,synonymous_variant,p.Ala208=,ENST00000360160,NM_001122665.3;DDX3Y,synonymous_variant,p.Ala208=,ENST00000454054,;DDX3Y,synonymous_variant,p.Ala205=,ENST00000440554,;DDX3Y,non_coding_transcript_exon_variant,,ENST00000463199,;DDX3Y,non_coding_transcript_exon_variant,,ENST00000472510,;DDX3Y,downstream_gene_variant,,ENST00000469101,;DDX3Y,downstream_gene_variant,,ENST00000493363,;DDX3Y,upstream_gene_variant,,ENST00000495478,; T ENSG00000067048 ENST00000336079 Transcript synonymous_variant 693/4408 624/1983 208/660 A gcC/gcT 1 NA 1 DDX3Y HGNC HGNC:2699 protein_coding YES CCDS14782.1 ENSP00000336725 O15523.190 A0A024R9A4.56 UPI00000741D9 NM_001324195.1,NM_004660.5,NM_001302552.2 7/17 Gene3D:3.40.50.300,Pfam:PF00270,PANTHER:PTHR24031,PANTHER:PTHR24031:SF584,SMART:SM00487,CDD:cd18051 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . CCA . 78.28 NA NA NA NA NA NA NA NA NA 12913804 DDX3Y 8653 . GRCh38 chrY 12913810 12913810 + Silent SNP T T A novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.630T>A p.Pro210= p.P210= ENST00000336079 7/17 NA NA NA NA NA NA DDX3Y,synonymous_variant,p.Pro210=,ENST00000336079,NM_001324195.1,NM_004660.5,NM_001302552.2;DDX3Y,synonymous_variant,p.Pro210=,ENST00000360160,NM_001122665.3;DDX3Y,synonymous_variant,p.Pro210=,ENST00000454054,;DDX3Y,synonymous_variant,p.Pro207=,ENST00000440554,;DDX3Y,non_coding_transcript_exon_variant,,ENST00000463199,;DDX3Y,non_coding_transcript_exon_variant,,ENST00000472510,;DDX3Y,downstream_gene_variant,,ENST00000469101,;DDX3Y,downstream_gene_variant,,ENST00000493363,;DDX3Y,upstream_gene_variant,,ENST00000495478,; A ENSG00000067048 ENST00000336079 Transcript synonymous_variant 699/4408 630/1983 210/660 P ccT/ccA 1 NA 1 DDX3Y HGNC HGNC:2699 protein_coding YES CCDS14782.1 ENSP00000336725 O15523.190 A0A024R9A4.56 UPI00000741D9 NM_001324195.1,NM_004660.5,NM_001302552.2 7/17 Gene3D:3.40.50.300,Pfam:PF00270,PROSITE_profiles:PS51192,PANTHER:PTHR24031,PANTHER:PTHR24031:SF584,SMART:SM00487,CDD:cd18051 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . CTA . 78.28 NA NA NA NA NA NA NA NA NA 12913810 DDX3Y 8653 . GRCh38 chrY 12913819 12913819 + Silent SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.639G>A p.Lys213= p.K213= ENST00000336079 7/17 NA NA NA NA NA NA DDX3Y,synonymous_variant,p.Lys213=,ENST00000336079,NM_001324195.1,NM_004660.5,NM_001302552.2;DDX3Y,synonymous_variant,p.Lys213=,ENST00000360160,NM_001122665.3;DDX3Y,synonymous_variant,p.Lys213=,ENST00000454054,;DDX3Y,synonymous_variant,p.Lys210=,ENST00000440554,;DDX3Y,non_coding_transcript_exon_variant,,ENST00000463199,;DDX3Y,non_coding_transcript_exon_variant,,ENST00000472510,;DDX3Y,downstream_gene_variant,,ENST00000469101,;DDX3Y,downstream_gene_variant,,ENST00000493363,;DDX3Y,upstream_gene_variant,,ENST00000495478,; A ENSG00000067048 ENST00000336079 Transcript synonymous_variant 708/4408 639/1983 213/660 K aaG/aaA 1 NA 1 DDX3Y HGNC HGNC:2699 protein_coding YES CCDS14782.1 ENSP00000336725 O15523.190 A0A024R9A4.56 UPI00000741D9 NM_001324195.1,NM_004660.5,NM_001302552.2 7/17 Gene3D:3.40.50.300,Pfam:PF00270,PROSITE_profiles:PS51192,PANTHER:PTHR24031,PANTHER:PTHR24031:SF584,SMART:SM00487,CDD:cd18051 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . AGG . 78.28 NA NA NA NA NA NA NA NA NA 12913819 DDX3Y 8653 . GRCh38 chrY 12913821 12913821 + Missense_Mutation SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.641G>A p.Gly214Glu p.G214E ENST00000336079 7/17 NA NA NA NA NA NA DDX3Y,missense_variant,p.Gly214Glu,ENST00000336079,NM_001324195.1,NM_004660.5,NM_001302552.2;DDX3Y,missense_variant,p.Gly214Glu,ENST00000360160,NM_001122665.3;DDX3Y,missense_variant,p.Gly214Glu,ENST00000454054,;DDX3Y,missense_variant,p.Gly211Glu,ENST00000440554,;DDX3Y,non_coding_transcript_exon_variant,,ENST00000463199,;DDX3Y,non_coding_transcript_exon_variant,,ENST00000472510,;DDX3Y,downstream_gene_variant,,ENST00000469101,;DDX3Y,downstream_gene_variant,,ENST00000493363,;DDX3Y,upstream_gene_variant,,ENST00000495478,; A ENSG00000067048 ENST00000336079 Transcript missense_variant 710/4408 641/1983 214/660 G/E gGa/gAa 1 NA 1 DDX3Y HGNC HGNC:2699 protein_coding YES CCDS14782.1 ENSP00000336725 O15523.190 A0A024R9A4.56 UPI00000741D9 NM_001324195.1,NM_004660.5,NM_001302552.2 tolerated(0.64) benign(0.005) 7/17 Gene3D:3.40.50.300,Pfam:PF00270,PROSITE_profiles:PS51192,PANTHER:PTHR24031,PANTHER:PTHR24031:SF584,SMART:SM00487,CDD:cd18051 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . GGA . 78.28 NA NA NA NA NA NA NA NA NA 12913821 DDX3Y 8653 . GRCh38 chrY 12913828 12913828 + Silent SNP A A G novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.648A>G p.Arg216= p.R216= ENST00000336079 7/17 NA NA NA NA NA NA DDX3Y,synonymous_variant,p.Arg216=,ENST00000336079,NM_001324195.1,NM_004660.5,NM_001302552.2;DDX3Y,synonymous_variant,p.Arg216=,ENST00000360160,NM_001122665.3;DDX3Y,synonymous_variant,p.Arg216=,ENST00000454054,;DDX3Y,synonymous_variant,p.Arg213=,ENST00000440554,;DDX3Y,non_coding_transcript_exon_variant,,ENST00000463199,;DDX3Y,non_coding_transcript_exon_variant,,ENST00000472510,;DDX3Y,downstream_gene_variant,,ENST00000469101,;DDX3Y,downstream_gene_variant,,ENST00000493363,;DDX3Y,upstream_gene_variant,,ENST00000495478,; G ENSG00000067048 ENST00000336079 Transcript synonymous_variant 717/4408 648/1983 216/660 R agA/agG 1 NA 1 DDX3Y HGNC HGNC:2699 protein_coding YES CCDS14782.1 ENSP00000336725 O15523.190 A0A024R9A4.56 UPI00000741D9 NM_001324195.1,NM_004660.5,NM_001302552.2 7/17 Gene3D:3.40.50.300,Pfam:PF00270,PROSITE_profiles:PS51192,PANTHER:PTHR24031,PANTHER:PTHR24031:SF584,SMART:SM00487,CDD:cd18051 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . GAG . 78.28 NA NA NA NA NA NA NA NA NA 12913828 DDX3Y 8653 . GRCh38 chrY 12915087 12915087 + Silent SNP T T C novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.879T>C p.Val293= p.V293= ENST00000336079 10/17 NA NA NA NA NA NA DDX3Y,synonymous_variant,p.Val293=,ENST00000336079,NM_001324195.1,NM_004660.5,NM_001302552.2;DDX3Y,synonymous_variant,p.Val293=,ENST00000360160,NM_001122665.3;DDX3Y,downstream_gene_variant,,ENST00000440554,;DDX3Y,downstream_gene_variant,,ENST00000454054,;DDX3Y,non_coding_transcript_exon_variant,,ENST00000463199,;DDX3Y,downstream_gene_variant,,ENST00000469101,;DDX3Y,downstream_gene_variant,,ENST00000472510,;DDX3Y,upstream_gene_variant,,ENST00000495478,; C ENSG00000067048 ENST00000336079 Transcript synonymous_variant 948/4408 879/1983 293/660 V gtT/gtC 1 NA 1 DDX3Y HGNC HGNC:2699 protein_coding YES CCDS14782.1 ENSP00000336725 O15523.190 A0A024R9A4.56 UPI00000741D9 NM_001324195.1,NM_004660.5,NM_001302552.2 10/17 Gene3D:3.40.50.300,Pfam:PF00270,PROSITE_profiles:PS51192,PANTHER:PTHR24031,PANTHER:PTHR24031:SF584,SMART:SM00487,Superfamily:SSF52540,CDD:cd18051 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . TTC . 115.1 NA NA NA NA NA NA NA NA NA 12915087 DDX3Y 8653 . GRCh38 chrY 12915102 12915102 + Silent SNP T T G novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.894T>G p.Val298= p.V298= ENST00000336079 10/17 NA NA NA NA NA NA DDX3Y,synonymous_variant,p.Val298=,ENST00000336079,NM_001324195.1,NM_004660.5,NM_001302552.2;DDX3Y,synonymous_variant,p.Val298=,ENST00000360160,NM_001122665.3;DDX3Y,downstream_gene_variant,,ENST00000440554,;DDX3Y,downstream_gene_variant,,ENST00000454054,;DDX3Y,non_coding_transcript_exon_variant,,ENST00000463199,;DDX3Y,downstream_gene_variant,,ENST00000469101,;DDX3Y,downstream_gene_variant,,ENST00000472510,;DDX3Y,upstream_gene_variant,,ENST00000495478,; G ENSG00000067048 ENST00000336079 Transcript synonymous_variant 963/4408 894/1983 298/660 V gtT/gtG 1 NA 1 DDX3Y HGNC HGNC:2699 protein_coding YES CCDS14782.1 ENSP00000336725 O15523.190 A0A024R9A4.56 UPI00000741D9 NM_001324195.1,NM_004660.5,NM_001302552.2 10/17 Gene3D:3.40.50.300,Pfam:PF00270,PROSITE_profiles:PS51192,PANTHER:PTHR24031,PANTHER:PTHR24031:SF584,SMART:SM00487,Superfamily:SSF52540,CDD:cd18051 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . TTT . 126.92 NA NA NA NA NA NA NA NA NA 12915102 DDX3Y 8653 . GRCh38 chrY 12915122 12915122 + Missense_Mutation SNP G G T novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.914G>T p.Gly305Val p.G305V ENST00000336079 10/17 NA NA NA NA NA NA DDX3Y,missense_variant,p.Gly305Val,ENST00000336079,NM_001324195.1,NM_004660.5,NM_001302552.2;DDX3Y,missense_variant,p.Gly305Val,ENST00000360160,NM_001122665.3;DDX3Y,downstream_gene_variant,,ENST00000440554,;DDX3Y,downstream_gene_variant,,ENST00000454054,;DDX3Y,non_coding_transcript_exon_variant,,ENST00000463199,;DDX3Y,downstream_gene_variant,,ENST00000469101,;DDX3Y,downstream_gene_variant,,ENST00000472510,;DDX3Y,upstream_gene_variant,,ENST00000495478,; T ENSG00000067048 ENST00000336079 Transcript missense_variant 983/4408 914/1983 305/660 G/V gGt/gTt 1 NA 1 DDX3Y HGNC HGNC:2699 protein_coding YES CCDS14782.1 ENSP00000336725 O15523.190 A0A024R9A4.56 UPI00000741D9 NM_001324195.1,NM_004660.5,NM_001302552.2 tolerated(0.08) benign(0.15) 10/17 Gene3D:3.40.50.300,Pfam:PF00270,PROSITE_profiles:PS51192,PANTHER:PTHR24031,PANTHER:PTHR24031:SF584,SMART:SM00487,Superfamily:SSF52540,CDD:cd18051 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . GGT . 314.61 NA NA NA NA NA NA NA NA NA 12915122 DDX3Y 8653 . GRCh38 chrY 12915165 12915165 + Silent SNP A A T novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.957A>T p.Val319= p.V319= ENST00000336079 10/17 NA NA NA NA NA NA DDX3Y,synonymous_variant,p.Val319=,ENST00000336079,NM_001324195.1,NM_004660.5,NM_001302552.2;DDX3Y,synonymous_variant,p.Val319=,ENST00000360160,NM_001122665.3;DDX3Y,downstream_gene_variant,,ENST00000440554,;DDX3Y,downstream_gene_variant,,ENST00000454054,;DDX3Y,non_coding_transcript_exon_variant,,ENST00000463199,;DDX3Y,downstream_gene_variant,,ENST00000469101,;DDX3Y,downstream_gene_variant,,ENST00000472510,;DDX3Y,upstream_gene_variant,,ENST00000495478,; T ENSG00000067048 ENST00000336079 Transcript synonymous_variant 1026/4408 957/1983 319/660 V gtA/gtT 1 NA 1 DDX3Y HGNC HGNC:2699 protein_coding YES CCDS14782.1 ENSP00000336725 O15523.190 A0A024R9A4.56 UPI00000741D9 NM_001324195.1,NM_004660.5,NM_001302552.2 10/17 Gene3D:3.40.50.300,Pfam:PF00270,PROSITE_profiles:PS51192,PANTHER:PTHR24031,PANTHER:PTHR24031:SF584,SMART:SM00487,Superfamily:SSF52540,CDD:cd18051 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . TAG . 238.6 NA NA NA NA NA NA NA NA NA 12915165 DDX3Y 8653 . GRCh38 chrY 12915171 12915171 + Silent SNP T T A novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.963T>A p.Thr321= p.T321= ENST00000336079 10/17 NA NA NA NA NA NA DDX3Y,synonymous_variant,p.Thr321=,ENST00000336079,NM_001324195.1,NM_004660.5,NM_001302552.2;DDX3Y,synonymous_variant,p.Thr321=,ENST00000360160,NM_001122665.3;DDX3Y,downstream_gene_variant,,ENST00000440554,;DDX3Y,downstream_gene_variant,,ENST00000454054,;DDX3Y,non_coding_transcript_exon_variant,,ENST00000463199,;DDX3Y,downstream_gene_variant,,ENST00000469101,;DDX3Y,downstream_gene_variant,,ENST00000472510,;DDX3Y,upstream_gene_variant,,ENST00000495478,; A ENSG00000067048 ENST00000336079 Transcript synonymous_variant 1032/4408 963/1983 321/660 T acT/acA 1 NA 1 DDX3Y HGNC HGNC:2699 protein_coding YES CCDS14782.1 ENSP00000336725 O15523.190 A0A024R9A4.56 UPI00000741D9 NM_001324195.1,NM_004660.5,NM_001302552.2 10/17 Gene3D:3.40.50.300,Pfam:PF00270,PROSITE_profiles:PS51192,PANTHER:PTHR24031,PANTHER:PTHR24031:SF584,SMART:SM00487,Superfamily:SSF52540,CDD:cd18051 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . CTC . 238.6 NA NA NA NA NA NA NA NA NA 12915171 DDX3Y 8653 . GRCh38 chrY 12915189 12915189 + Silent SNP T T C novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.981T>C p.Asp327= p.D327= ENST00000336079 10/17 NA NA NA NA NA NA DDX3Y,synonymous_variant,p.Asp327=,ENST00000336079,NM_001324195.1,NM_004660.5,NM_001302552.2;DDX3Y,synonymous_variant,p.Asp327=,ENST00000360160,NM_001122665.3;DDX3Y,downstream_gene_variant,,ENST00000440554,;DDX3Y,downstream_gene_variant,,ENST00000454054,;DDX3Y,non_coding_transcript_exon_variant,,ENST00000463199,;DDX3Y,downstream_gene_variant,,ENST00000469101,;DDX3Y,downstream_gene_variant,,ENST00000472510,;DDX3Y,upstream_gene_variant,,ENST00000495478,; C ENSG00000067048 ENST00000336079 Transcript synonymous_variant 1050/4408 981/1983 327/660 D gaT/gaC 1 NA 1 DDX3Y HGNC HGNC:2699 protein_coding YES CCDS14782.1 ENSP00000336725 O15523.190 A0A024R9A4.56 UPI00000741D9 NM_001324195.1,NM_004660.5,NM_001302552.2 10/17 Gene3D:3.40.50.300,Pfam:PF00270,PROSITE_profiles:PS51192,PANTHER:PTHR24031,PANTHER:PTHR24031:SF584,SMART:SM00487,Superfamily:SSF52540,CDD:cd18051 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . ATA . 148.6 NA NA NA NA NA NA NA NA NA 12915189 DDX3Y 8653 . GRCh38 chrY 12915198 12915198 + Silent SNP A A G novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.990A>G p.Glu330= p.E330= ENST00000336079 10/17 NA NA NA NA NA NA DDX3Y,synonymous_variant,p.Glu330=,ENST00000336079,NM_001324195.1,NM_004660.5,NM_001302552.2;DDX3Y,synonymous_variant,p.Glu330=,ENST00000360160,NM_001122665.3;DDX3Y,downstream_gene_variant,,ENST00000440554,;DDX3Y,downstream_gene_variant,,ENST00000454054,;DDX3Y,non_coding_transcript_exon_variant,,ENST00000463199,;DDX3Y,downstream_gene_variant,,ENST00000469101,;DDX3Y,downstream_gene_variant,,ENST00000472510,;DDX3Y,upstream_gene_variant,,ENST00000495478,; G ENSG00000067048 ENST00000336079 Transcript synonymous_variant 1059/4408 990/1983 330/660 E gaA/gaG 1 NA 1 DDX3Y HGNC HGNC:2699 protein_coding YES CCDS14782.1 ENSP00000336725 O15523.190 A0A024R9A4.56 UPI00000741D9 NM_001324195.1,NM_004660.5,NM_001302552.2 10/17 Gene3D:3.40.50.300,Pfam:PF00270,PROSITE_profiles:PS51192,PANTHER:PTHR24031,PANTHER:PTHR24031:SF584,SMART:SM00487,Superfamily:SSF52540,CDD:cd18051 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . AAA . 58.6 NA NA NA NA NA NA NA NA NA 12915198 DDX3Y 8653 . GRCh38 chrY 12915204 12915204 + Silent SNP A A G novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.996A>G p.Gly332= p.G332= ENST00000336079 10/17 NA NA NA NA NA NA DDX3Y,synonymous_variant,p.Gly332=,ENST00000336079,NM_001324195.1,NM_004660.5,NM_001302552.2;DDX3Y,synonymous_variant,p.Gly332=,ENST00000360160,NM_001122665.3;DDX3Y,downstream_gene_variant,,ENST00000440554,;DDX3Y,downstream_gene_variant,,ENST00000454054,;DDX3Y,non_coding_transcript_exon_variant,,ENST00000463199,;DDX3Y,downstream_gene_variant,,ENST00000469101,;DDX3Y,downstream_gene_variant,,ENST00000472510,;DDX3Y,upstream_gene_variant,,ENST00000495478,; G ENSG00000067048 ENST00000336079 Transcript synonymous_variant 1065/4408 996/1983 332/660 G ggA/ggG 1 NA 1 DDX3Y HGNC HGNC:2699 protein_coding YES CCDS14782.1 ENSP00000336725 O15523.190 A0A024R9A4.56 UPI00000741D9 NM_001324195.1,NM_004660.5,NM_001302552.2 10/17 Gene3D:3.40.50.300,Pfam:PF00270,PROSITE_profiles:PS51192,PANTHER:PTHR24031,PANTHER:PTHR24031:SF584,SMART:SM00487,Superfamily:SSF52540,CDD:cd18051 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . GAA . 61.6 NA NA NA NA NA NA NA NA NA 12915204 DDX3Y 8653 . GRCh38 chrY 12915210 12915210 + Silent SNP T T C novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1002T>C p.Ile334= p.I334= ENST00000336079 10/17 NA NA NA NA NA NA DDX3Y,synonymous_variant,p.Ile334=,ENST00000336079,NM_001324195.1,NM_004660.5,NM_001302552.2;DDX3Y,synonymous_variant,p.Ile334=,ENST00000360160,NM_001122665.3;DDX3Y,downstream_gene_variant,,ENST00000440554,;DDX3Y,downstream_gene_variant,,ENST00000454054,;DDX3Y,non_coding_transcript_exon_variant,,ENST00000463199,;DDX3Y,downstream_gene_variant,,ENST00000469101,;DDX3Y,downstream_gene_variant,,ENST00000472510,;DDX3Y,upstream_gene_variant,,ENST00000495478,; C ENSG00000067048 ENST00000336079 Transcript synonymous_variant 1071/4408 1002/1983 334/660 I atT/atC 1 NA 1 DDX3Y HGNC HGNC:2699 protein_coding YES CCDS14782.1 ENSP00000336725 O15523.190 A0A024R9A4.56 UPI00000741D9 NM_001324195.1,NM_004660.5,NM_001302552.2 10/17 Gene3D:3.40.50.300,Pfam:PF00270,PROSITE_profiles:PS51192,PANTHER:PTHR24031,PANTHER:PTHR24031:SF584,SMART:SM00487,Superfamily:SSF52540,CDD:cd18051 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . TTG . 61.6 NA NA NA NA NA NA NA NA NA 12915210 DDX3Y 8653 . GRCh38 chrY 12915213 12915213 + Silent SNP A A G novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1005A>G p.Gly335= p.G335= ENST00000336079 10/17 NA NA NA NA NA NA DDX3Y,synonymous_variant,p.Gly335=,ENST00000336079,NM_001324195.1,NM_004660.5,NM_001302552.2;DDX3Y,synonymous_variant,p.Gly335=,ENST00000360160,NM_001122665.3;DDX3Y,downstream_gene_variant,,ENST00000440554,;DDX3Y,downstream_gene_variant,,ENST00000454054,;DDX3Y,non_coding_transcript_exon_variant,,ENST00000463199,;DDX3Y,downstream_gene_variant,,ENST00000469101,;DDX3Y,downstream_gene_variant,,ENST00000472510,;DDX3Y,upstream_gene_variant,,ENST00000495478,; G ENSG00000067048 ENST00000336079 Transcript synonymous_variant 1074/4408 1005/1983 335/660 G ggA/ggG 1 NA 1 DDX3Y HGNC HGNC:2699 protein_coding YES CCDS14782.1 ENSP00000336725 O15523.190 A0A024R9A4.56 UPI00000741D9 NM_001324195.1,NM_004660.5,NM_001302552.2 10/17 Gene3D:3.40.50.300,Pfam:PF00270,PROSITE_profiles:PS51192,PANTHER:PTHR24031,PANTHER:PTHR24031:SF584,SMART:SM00487,Superfamily:SSF52540,CDD:cd18051 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . GAT . 61.6 NA NA NA NA NA NA NA NA NA 12915213 DDX3Y 8653 . GRCh38 chrY 12915219 12915219 + Silent SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1011C>T p.Asp337= p.D337= ENST00000336079 10/17 NA NA NA NA NA NA DDX3Y,synonymous_variant,p.Asp337=,ENST00000336079,NM_001324195.1,NM_004660.5,NM_001302552.2;DDX3Y,synonymous_variant,p.Asp337=,ENST00000360160,NM_001122665.3;DDX3Y,downstream_gene_variant,,ENST00000440554,;DDX3Y,downstream_gene_variant,,ENST00000454054,;DDX3Y,non_coding_transcript_exon_variant,,ENST00000463199,;DDX3Y,downstream_gene_variant,,ENST00000469101,;DDX3Y,downstream_gene_variant,,ENST00000472510,;DDX3Y,upstream_gene_variant,,ENST00000495478,; T ENSG00000067048 ENST00000336079 Transcript synonymous_variant 1080/4408 1011/1983 337/660 D gaC/gaT 1 NA 1 DDX3Y HGNC HGNC:2699 protein_coding YES CCDS14782.1 ENSP00000336725 O15523.190 A0A024R9A4.56 UPI00000741D9 NM_001324195.1,NM_004660.5,NM_001302552.2 10/17 Gene3D:3.40.50.300,Pfam:PF00270,PROSITE_profiles:PS51192,PANTHER:PTHR24031,PANTHER:PTHR24031:SF584,SMART:SM00487,Superfamily:SSF52540,CDD:cd18051 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . ACT . 101.6 NA NA NA NA NA NA NA NA NA 12915219 DDX3Y 8653 . GRCh38 chrY 12915630 12915630 + Splice_Region SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1020G>A p.Lys340= p.K340= ENST00000336079 11/17 NA NA NA NA NA NA DDX3Y,splice_region_variant,p.Lys340=,ENST00000336079,NM_001324195.1,NM_004660.5,NM_001302552.2;DDX3Y,splice_region_variant,p.Lys340=,ENST00000360160,NM_001122665.3;DDX3Y,downstream_gene_variant,,ENST00000440554,;DDX3Y,downstream_gene_variant,,ENST00000454054,;DDX3Y,non_coding_transcript_exon_variant,,ENST00000495478,;DDX3Y,downstream_gene_variant,,ENST00000463199,;DDX3Y,downstream_gene_variant,,ENST00000469101,;DDX3Y,downstream_gene_variant,,ENST00000472510,; A ENSG00000067048 ENST00000336079 Transcript splice_region_variant,synonymous_variant 1089/4408 1020/1983 340/660 K aaG/aaA 1 NA 1 DDX3Y HGNC HGNC:2699 protein_coding YES CCDS14782.1 ENSP00000336725 O15523.190 A0A024R9A4.56 UPI00000741D9 NM_001324195.1,NM_004660.5,NM_001302552.2 11/17 Gene3D:3.40.50.300,Pfam:PF00270,PROSITE_profiles:PS51192,PANTHER:PTHR24031,PANTHER:PTHR24031:SF584,SMART:SM00487,Superfamily:SSF52540,CDD:cd18051 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . GGT . 35.44 NA NA NA NA NA NA NA NA NA 12915630 DDX3Y 8653 . GRCh38 chrY 12915639 12915639 + Silent SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1029G>A p.Val343= p.V343= ENST00000336079 11/17 NA NA NA NA NA NA DDX3Y,synonymous_variant,p.Val343=,ENST00000336079,NM_001324195.1,NM_004660.5,NM_001302552.2;DDX3Y,synonymous_variant,p.Val343=,ENST00000360160,NM_001122665.3;DDX3Y,downstream_gene_variant,,ENST00000440554,;DDX3Y,downstream_gene_variant,,ENST00000454054,;DDX3Y,non_coding_transcript_exon_variant,,ENST00000495478,;DDX3Y,downstream_gene_variant,,ENST00000463199,;DDX3Y,downstream_gene_variant,,ENST00000469101,;DDX3Y,downstream_gene_variant,,ENST00000472510,; A ENSG00000067048 ENST00000336079 Transcript synonymous_variant 1098/4408 1029/1983 343/660 V gtG/gtA 1 NA 1 DDX3Y HGNC HGNC:2699 protein_coding YES CCDS14782.1 ENSP00000336725 O15523.190 A0A024R9A4.56 UPI00000741D9 NM_001324195.1,NM_004660.5,NM_001302552.2 11/17 Gene3D:3.40.50.300,Pfam:PF00270,PROSITE_patterns:PS00039,PROSITE_profiles:PS51192,PANTHER:PTHR24031,PANTHER:PTHR24031:SF584,SMART:SM00487,Superfamily:SSF52540,CDD:cd18051 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . TGT . 80.8 NA NA NA NA NA NA NA NA NA 12915639 DDX3Y 8653 . GRCh38 chrY 12915684 12915684 + Silent SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1074G>A p.Gln358= p.Q358= ENST00000336079 11/17 NA NA NA NA NA NA DDX3Y,synonymous_variant,p.Gln358=,ENST00000336079,NM_001324195.1,NM_004660.5,NM_001302552.2;DDX3Y,synonymous_variant,p.Gln358=,ENST00000360160,NM_001122665.3;DDX3Y,downstream_gene_variant,,ENST00000440554,;DDX3Y,downstream_gene_variant,,ENST00000454054,;DDX3Y,non_coding_transcript_exon_variant,,ENST00000495478,;DDX3Y,downstream_gene_variant,,ENST00000463199,;DDX3Y,downstream_gene_variant,,ENST00000469101,;DDX3Y,downstream_gene_variant,,ENST00000472510,; A ENSG00000067048 ENST00000336079 Transcript synonymous_variant 1143/4408 1074/1983 358/660 Q caG/caA 1 NA 1 DDX3Y HGNC HGNC:2699 protein_coding YES CCDS14782.1 ENSP00000336725 O15523.190 A0A024R9A4.56 UPI00000741D9 NM_001324195.1,NM_004660.5,NM_001302552.2 11/17 Gene3D:3.40.50.300,Pfam:PF00270,PROSITE_profiles:PS51192,PANTHER:PTHR24031,PANTHER:PTHR24031:SF584,SMART:SM00487,Superfamily:SSF52540,CDD:cd18051 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . AGA . 60.8 NA NA NA NA NA NA NA NA NA 12915684 DDX3Y 8653 . GRCh38 chrY 12915702 12915702 + Silent SNP A A G novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1092A>G p.Glu364= p.E364= ENST00000336079 11/17 NA NA NA NA NA NA DDX3Y,synonymous_variant,p.Glu364=,ENST00000336079,NM_001324195.1,NM_004660.5,NM_001302552.2;DDX3Y,synonymous_variant,p.Glu364=,ENST00000360160,NM_001122665.3;DDX3Y,downstream_gene_variant,,ENST00000440554,;DDX3Y,downstream_gene_variant,,ENST00000454054,;DDX3Y,non_coding_transcript_exon_variant,,ENST00000495478,;DDX3Y,downstream_gene_variant,,ENST00000463199,;DDX3Y,downstream_gene_variant,,ENST00000469101,;DDX3Y,downstream_gene_variant,,ENST00000472510,; G ENSG00000067048 ENST00000336079 Transcript synonymous_variant 1161/4408 1092/1983 364/660 E gaA/gaG 1 NA 1 DDX3Y HGNC HGNC:2699 protein_coding YES CCDS14782.1 ENSP00000336725 O15523.190 A0A024R9A4.56 UPI00000741D9 NM_001324195.1,NM_004660.5,NM_001302552.2 11/17 Gene3D:3.40.50.300,Pfam:PF00270,PROSITE_profiles:PS51192,PANTHER:PTHR24031,PANTHER:PTHR24031:SF584,SMART:SM00487,Superfamily:SSF52540,CDD:cd18051 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . AAC . 121.8 NA NA NA NA NA NA NA NA NA 12915702 DDX3Y 8653 . GRCh38 chrY 12915705 12915705 + Silent SNP A A G NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1095A>G p.Gln365= p.Q365= ENST00000336079 11/17 NA NA NA NA NA NA DDX3Y,synonymous_variant,p.Gln365=,ENST00000336079,NM_001324195.1,NM_004660.5,NM_001302552.2;DDX3Y,synonymous_variant,p.Gln365=,ENST00000360160,NM_001122665.3;DDX3Y,downstream_gene_variant,,ENST00000440554,;DDX3Y,downstream_gene_variant,,ENST00000454054,;DDX3Y,non_coding_transcript_exon_variant,,ENST00000495478,;DDX3Y,downstream_gene_variant,,ENST00000463199,;DDX3Y,downstream_gene_variant,,ENST00000469101,;DDX3Y,downstream_gene_variant,,ENST00000472510,; G ENSG00000067048 ENST00000336079 Transcript synonymous_variant 1164/4408 1095/1983 365/660 Q caA/caG COSV100267624 1 NA 1 DDX3Y HGNC HGNC:2699 protein_coding YES CCDS14782.1 ENSP00000336725 O15523.190 A0A024R9A4.56 UPI00000741D9 NM_001324195.1,NM_004660.5,NM_001302552.2 11/17 Gene3D:3.40.50.300,Pfam:PF00270,PROSITE_profiles:PS51192,PANTHER:PTHR24031,PANTHER:PTHR24031:SF584,SMART:SM00487,Superfamily:SSF52540,CDD:cd18051 NA NA NA NA NA NA NA NA NA 1 NA NA NA NA LOW 1 SNV 1 NA 1 NA 1 . AAG . 121.8 NA NA NA NA NA NA NA NA NA 12915705 DDX3Y 8653 . GRCh38 chrY 12915708 12915708 + Silent SNP T T C novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1098T>C p.Asp366= p.D366= ENST00000336079 11/17 NA NA NA NA NA NA DDX3Y,synonymous_variant,p.Asp366=,ENST00000336079,NM_001324195.1,NM_004660.5,NM_001302552.2;DDX3Y,synonymous_variant,p.Asp366=,ENST00000360160,NM_001122665.3;DDX3Y,downstream_gene_variant,,ENST00000440554,;DDX3Y,downstream_gene_variant,,ENST00000454054,;DDX3Y,non_coding_transcript_exon_variant,,ENST00000495478,;DDX3Y,downstream_gene_variant,,ENST00000463199,;DDX3Y,downstream_gene_variant,,ENST00000469101,;DDX3Y,downstream_gene_variant,,ENST00000472510,; C ENSG00000067048 ENST00000336079 Transcript synonymous_variant 1167/4408 1098/1983 366/660 D gaT/gaC 1 NA 1 DDX3Y HGNC HGNC:2699 protein_coding YES CCDS14782.1 ENSP00000336725 O15523.190 A0A024R9A4.56 UPI00000741D9 NM_001324195.1,NM_004660.5,NM_001302552.2 11/17 Gene3D:3.40.50.300,Pfam:PF00270,PROSITE_profiles:PS51192,PANTHER:PTHR24031,PANTHER:PTHR24031:SF584,SMART:SM00487,Superfamily:SSF52540,CDD:cd18051 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . ATA . 121.8 NA NA NA NA NA NA NA NA NA 12915708 DDX3Y 8653 . GRCh38 chrY 12915711 12915711 + Silent SNP T T A novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1101T>A p.Thr367= p.T367= ENST00000336079 11/17 NA NA NA NA NA NA DDX3Y,synonymous_variant,p.Thr367=,ENST00000336079,NM_001324195.1,NM_004660.5,NM_001302552.2;DDX3Y,synonymous_variant,p.Thr367=,ENST00000360160,NM_001122665.3;DDX3Y,downstream_gene_variant,,ENST00000440554,;DDX3Y,downstream_gene_variant,,ENST00000454054,;DDX3Y,non_coding_transcript_exon_variant,,ENST00000495478,;DDX3Y,downstream_gene_variant,,ENST00000463199,;DDX3Y,downstream_gene_variant,,ENST00000469101,;DDX3Y,downstream_gene_variant,,ENST00000472510,; A ENSG00000067048 ENST00000336079 Transcript synonymous_variant 1170/4408 1101/1983 367/660 T acT/acA 1 NA 1 DDX3Y HGNC HGNC:2699 protein_coding YES CCDS14782.1 ENSP00000336725 O15523.190 A0A024R9A4.56 UPI00000741D9 NM_001324195.1,NM_004660.5,NM_001302552.2 11/17 Gene3D:3.40.50.300,Pfam:PF00270,PROSITE_profiles:PS51192,PANTHER:PTHR24031,PANTHER:PTHR24031:SF584,SMART:SM00487,Superfamily:SSF52540,CDD:cd18051 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . CTA . 121.8 NA NA NA NA NA NA NA NA NA 12915711 DDX3Y 8653 . GRCh38 chrY 12915726 12915726 + Silent SNP C C G novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1116C>G p.Gly372= p.G372= ENST00000336079 11/17 NA NA NA NA NA NA DDX3Y,synonymous_variant,p.Gly372=,ENST00000336079,NM_001324195.1,NM_004660.5,NM_001302552.2;DDX3Y,synonymous_variant,p.Gly372=,ENST00000360160,NM_001122665.3;DDX3Y,downstream_gene_variant,,ENST00000440554,;DDX3Y,downstream_gene_variant,,ENST00000454054,;DDX3Y,non_coding_transcript_exon_variant,,ENST00000495478,;DDX3Y,downstream_gene_variant,,ENST00000463199,;DDX3Y,downstream_gene_variant,,ENST00000469101,;DDX3Y,downstream_gene_variant,,ENST00000472510,; G ENSG00000067048 ENST00000336079 Transcript synonymous_variant 1185/4408 1116/1983 372/660 G ggC/ggG 1 NA 1 DDX3Y HGNC HGNC:2699 protein_coding YES CCDS14782.1 ENSP00000336725 O15523.190 A0A024R9A4.56 UPI00000741D9 NM_001324195.1,NM_004660.5,NM_001302552.2 11/17 Gene3D:3.40.50.300,Pfam:PF00270,PROSITE_profiles:PS51192,PANTHER:PTHR24031,PANTHER:PTHR24031:SF584,SMART:SM00487,Superfamily:SSF52540,CDD:cd18051 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . GCG . 76.8 NA NA NA NA NA NA NA NA NA 12915726 DDX3Y 8653 . GRCh38 chrY 12915738 12915738 + Silent SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1128C>T p.Thr376= p.T376= ENST00000336079 11/17 NA NA NA NA NA NA DDX3Y,synonymous_variant,p.Thr376=,ENST00000336079,NM_001324195.1,NM_004660.5,NM_001302552.2;DDX3Y,synonymous_variant,p.Thr376=,ENST00000360160,NM_001122665.3;DDX3Y,downstream_gene_variant,,ENST00000440554,;DDX3Y,downstream_gene_variant,,ENST00000454054,;DDX3Y,non_coding_transcript_exon_variant,,ENST00000495478,;DDX3Y,downstream_gene_variant,,ENST00000463199,;DDX3Y,downstream_gene_variant,,ENST00000469101,;DDX3Y,downstream_gene_variant,,ENST00000472510,; T ENSG00000067048 ENST00000336079 Transcript synonymous_variant 1197/4408 1128/1983 376/660 T acC/acT 1 NA 1 DDX3Y HGNC HGNC:2699 protein_coding YES CCDS14782.1 ENSP00000336725 O15523.190 A0A024R9A4.56 UPI00000741D9 NM_001324195.1,NM_004660.5,NM_001302552.2 11/17 Gene3D:3.40.50.300,Pfam:PF00270,PROSITE_profiles:PS51192,PANTHER:PTHR24031,PANTHER:PTHR24031:SF584,SMART:SM00487,Superfamily:SSF52540,CDD:cd18051 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . CCA . 37.28 NA NA NA NA NA NA NA NA NA 12915738 DDX3Y 8653 . GRCh38 chrY 12915768 12915768 + Silent SNP A A G novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1158A>G p.Glu386= p.E386= ENST00000336079 11/17 NA NA NA NA NA NA DDX3Y,synonymous_variant,p.Glu386=,ENST00000336079,NM_001324195.1,NM_004660.5,NM_001302552.2;DDX3Y,synonymous_variant,p.Glu386=,ENST00000360160,NM_001122665.3;DDX3Y,downstream_gene_variant,,ENST00000440554,;DDX3Y,downstream_gene_variant,,ENST00000454054,;DDX3Y,non_coding_transcript_exon_variant,,ENST00000495478,;DDX3Y,downstream_gene_variant,,ENST00000463199,;DDX3Y,downstream_gene_variant,,ENST00000469101,;DDX3Y,downstream_gene_variant,,ENST00000472510,; G ENSG00000067048 ENST00000336079 Transcript synonymous_variant 1227/4408 1158/1983 386/660 E gaA/gaG 1 NA 1 DDX3Y HGNC HGNC:2699 protein_coding YES CCDS14782.1 ENSP00000336725 O15523.190 A0A024R9A4.56 UPI00000741D9 NM_001324195.1,NM_004660.5,NM_001302552.2 11/17 Gene3D:3.40.50.300,Pfam:PF00270,PROSITE_profiles:PS51192,PANTHER:PTHR24031,PANTHER:PTHR24031:SF584,SMART:SM00487,Superfamily:SSF52540,CDD:cd18051 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . AAA . 37.28 NA NA NA NA NA NA NA NA NA 12915768 DDX3Y 8653 . GRCh38 chrY 12917009 12917009 + Missense_Mutation SNP A A G novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1712A>G p.Asn571Ser p.N571S ENST00000336079 15/17 NA NA NA NA NA NA DDX3Y,missense_variant,p.Asn571Ser,ENST00000336079,NM_001324195.1,NM_004660.5,NM_001302552.2;DDX3Y,missense_variant,p.Asn571Ser,ENST00000360160,NM_001122665.3;DDX3Y,downstream_gene_variant,,ENST00000440554,;DDX3Y,downstream_gene_variant,,ENST00000454054,;DDX3Y,downstream_gene_variant,,ENST00000463199,;DDX3Y,downstream_gene_variant,,ENST00000469101,;DDX3Y,downstream_gene_variant,,ENST00000472510,;DDX3Y,downstream_gene_variant,,ENST00000495478,; G ENSG00000067048 ENST00000336079 Transcript missense_variant 1781/4408 1712/1983 571/660 N/S aAt/aGt 1 NA 1 DDX3Y HGNC HGNC:2699 protein_coding YES CCDS14782.1 ENSP00000336725 O15523.190 A0A024R9A4.56 UPI00000741D9 NM_001324195.1,NM_004660.5,NM_001302552.2 tolerated(1) benign(0) 15/17 Gene3D:3.40.50.300,PROSITE_profiles:PS51194,PANTHER:PTHR24031,PANTHER:PTHR24031:SF584 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . AAT . 37.28 NA NA NA NA NA NA NA NA NA 12917009 DDX3Y 8653 . GRCh38 chrY 12917037 12917037 + Silent SNP T T A novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1740T>A p.Gly580= p.G580= ENST00000336079 15/17 NA NA NA NA NA NA DDX3Y,synonymous_variant,p.Gly580=,ENST00000336079,NM_001324195.1,NM_004660.5,NM_001302552.2;DDX3Y,synonymous_variant,p.Gly580=,ENST00000360160,NM_001122665.3;DDX3Y,downstream_gene_variant,,ENST00000440554,;DDX3Y,downstream_gene_variant,,ENST00000454054,;DDX3Y,downstream_gene_variant,,ENST00000463199,;DDX3Y,downstream_gene_variant,,ENST00000469101,;DDX3Y,downstream_gene_variant,,ENST00000472510,;DDX3Y,downstream_gene_variant,,ENST00000495478,; A ENSG00000067048 ENST00000336079 Transcript synonymous_variant 1809/4408 1740/1983 580/660 G ggT/ggA 1 NA 1 DDX3Y HGNC HGNC:2699 protein_coding YES CCDS14782.1 ENSP00000336725 O15523.190 A0A024R9A4.56 UPI00000741D9 NM_001324195.1,NM_004660.5,NM_001302552.2 15/17 PANTHER:PTHR24031,PANTHER:PTHR24031:SF584 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . GTG . 121.8 NA NA NA NA NA NA NA NA NA 12917037 DDX3Y 8653 . GRCh38 chrY 12917038 12917038 + Missense_Mutation SNP G G A rs754950089 NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1741G>A p.Gly581Ser p.G581S ENST00000336079 15/17 NA NA NA NA NA NA DDX3Y,missense_variant,p.Gly581Ser,ENST00000336079,NM_001324195.1,NM_004660.5,NM_001302552.2;DDX3Y,missense_variant,p.Gly581Ser,ENST00000360160,NM_001122665.3;DDX3Y,downstream_gene_variant,,ENST00000440554,;DDX3Y,downstream_gene_variant,,ENST00000454054,;DDX3Y,downstream_gene_variant,,ENST00000463199,;DDX3Y,downstream_gene_variant,,ENST00000469101,;DDX3Y,downstream_gene_variant,,ENST00000472510,;DDX3Y,downstream_gene_variant,,ENST00000495478,; A ENSG00000067048 ENST00000336079 Transcript missense_variant 1810/4408 1741/1983 581/660 G/S Ggc/Agc rs754950089 1 NA 1 DDX3Y HGNC HGNC:2699 protein_coding YES CCDS14782.1 ENSP00000336725 O15523.190 A0A024R9A4.56 UPI00000741D9 NM_001324195.1,NM_004660.5,NM_001302552.2 tolerated(1) benign(0) 15/17 PANTHER:PTHR24031,PANTHER:PTHR24031:SF584 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . TGG . 121.8 1.506e-05 NA NA NA NA NA NA NA 8.82e-05 12917038 DDX3Y 8653 . GRCh38 chrY 12917040 12917040 + Silent SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1743C>T p.Gly581= p.G581= ENST00000336079 15/17 NA NA NA NA NA NA DDX3Y,synonymous_variant,p.Gly581=,ENST00000336079,NM_001324195.1,NM_004660.5,NM_001302552.2;DDX3Y,synonymous_variant,p.Gly581=,ENST00000360160,NM_001122665.3;DDX3Y,downstream_gene_variant,,ENST00000440554,;DDX3Y,downstream_gene_variant,,ENST00000454054,;DDX3Y,downstream_gene_variant,,ENST00000463199,;DDX3Y,downstream_gene_variant,,ENST00000469101,;DDX3Y,downstream_gene_variant,,ENST00000472510,;DDX3Y,downstream_gene_variant,,ENST00000495478,; T ENSG00000067048 ENST00000336079 Transcript synonymous_variant 1812/4408 1743/1983 581/660 G ggC/ggT 1 NA 1 DDX3Y HGNC HGNC:2699 protein_coding YES CCDS14782.1 ENSP00000336725 O15523.190 A0A024R9A4.56 UPI00000741D9 NM_001324195.1,NM_004660.5,NM_001302552.2 15/17 PANTHER:PTHR24031,PANTHER:PTHR24031:SF584 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . GCA . 121.8 NA NA NA NA NA NA NA NA NA 12917040 DDX3Y 8653 . GRCh38 chrY 12917043 12917043 + Silent SNP T T C novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1746T>C p.Ser582= p.S582= ENST00000336079 15/17 NA NA NA NA NA NA DDX3Y,synonymous_variant,p.Ser582=,ENST00000336079,NM_001324195.1,NM_004660.5,NM_001302552.2;DDX3Y,synonymous_variant,p.Ser582=,ENST00000360160,NM_001122665.3;DDX3Y,downstream_gene_variant,,ENST00000440554,;DDX3Y,downstream_gene_variant,,ENST00000454054,;DDX3Y,downstream_gene_variant,,ENST00000463199,;DDX3Y,downstream_gene_variant,,ENST00000469101,;DDX3Y,downstream_gene_variant,,ENST00000472510,;DDX3Y,downstream_gene_variant,,ENST00000495478,; C ENSG00000067048 ENST00000336079 Transcript synonymous_variant 1815/4408 1746/1983 582/660 S agT/agC 1 NA 1 DDX3Y HGNC HGNC:2699 protein_coding YES CCDS14782.1 ENSP00000336725 O15523.190 A0A024R9A4.56 UPI00000741D9 NM_001324195.1,NM_004660.5,NM_001302552.2 15/17 PANTHER:PTHR24031,PANTHER:PTHR24031:SF584 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . GTC . 121.8 NA NA NA NA NA NA NA NA NA 12917043 DDX3Y 8653 . GRCh38 chrY 12917052 12917052 + Silent SNP A A T novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1755A>T p.Arg585= p.R585= ENST00000336079 15/17 NA NA NA NA NA NA DDX3Y,synonymous_variant,p.Arg585=,ENST00000336079,NM_001324195.1,NM_004660.5,NM_001302552.2;DDX3Y,synonymous_variant,p.Arg585=,ENST00000360160,NM_001122665.3;DDX3Y,downstream_gene_variant,,ENST00000440554,;DDX3Y,downstream_gene_variant,,ENST00000454054,;DDX3Y,downstream_gene_variant,,ENST00000463199,;DDX3Y,downstream_gene_variant,,ENST00000469101,;DDX3Y,downstream_gene_variant,,ENST00000472510,;DDX3Y,downstream_gene_variant,,ENST00000495478,; T ENSG00000067048 ENST00000336079 Transcript synonymous_variant 1824/4408 1755/1983 585/660 R cgA/cgT 1 NA 1 DDX3Y HGNC HGNC:2699 protein_coding YES CCDS14782.1 ENSP00000336725 O15523.190 A0A024R9A4.56 UPI00000741D9 NM_001324195.1,NM_004660.5,NM_001302552.2 15/17 PANTHER:PTHR24031,PANTHER:PTHR24031:SF584 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . GAT . 78.28 NA NA NA NA NA NA NA NA NA 12917052 UTY 7404 . GRCh38 chrY 13302939 13302939 + Silent SNP T T A novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3618A>T p.Gly1206= p.G1206= ENST00000545955 25/30 NA NA NA NA NA NA UTY,synonymous_variant,p.Gly1206=,ENST00000545955,NM_001258269.1,NM_001258262.1,NM_001258249.1;UTY,synonymous_variant,p.Gly1161=,ENST00000617789,NM_001258260.1,NM_001258258.1;UTY,synonymous_variant,p.Gly1154=,ENST00000382896,NM_001258264.1,NM_001258255.1,NM_001258268.1,NM_001258252.1;UTY,synonymous_variant,p.Gly1151=,ENST00000540140,NM_001258261.1;UTY,synonymous_variant,p.Gly1129=,ENST00000612274,NM_001258266.1;UTY,synonymous_variant,p.Gly1125=,ENST00000538878,NM_001258253.1,NM_001258251.1;UTY,synonymous_variant,p.Gly1109=,ENST00000331397,NM_001258250.1,NM_001258259.1,NM_001258257.1,NM_001258270.1,NM_007125.4,NM_001258267.1;UTY,synonymous_variant,p.Gly1154=,ENST00000537580,NM_001258263.1,NM_001258256.1;UTY,synonymous_variant,p.Gly1026=,ENST00000618474,NM_001258265.1;UTY,synonymous_variant,p.Gly1109=,ENST00000362096,NM_182659.1;UTY,synonymous_variant,p.Gly1030=,ENST00000624098,NM_001258254.1; A ENSG00000183878 ENST00000545955 Transcript synonymous_variant 4623/6817 3618/4335 1206/1444 G ggA/ggT 1 NA -1 UTY HGNC HGNC:12638 protein_coding YES CCDS76079.1 ENSP00000442047 F5H8B4.64 UPI00025909B7 NM_001258269.1,NM_001258262.1,NM_001258249.1 25/30 Gene3D:2.60.120.650,Pfam:PF02373,PROSITE_profiles:PS51184,PANTHER:PTHR14017,PANTHER:PTHR14017:SF25,SMART:SM00558,Superfamily:SSF48452,Superfamily:SSF51197 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . CTC . 271.02 NA NA NA NA NA NA NA NA NA 13302939 UTY 7404 . GRCh38 chrY 13302966 13302966 + Silent SNP G G A NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3591C>T p.Cys1197= p.C1197= ENST00000545955 25/30 NA NA NA NA NA NA UTY,synonymous_variant,p.Cys1197=,ENST00000545955,NM_001258269.1,NM_001258262.1,NM_001258249.1;UTY,synonymous_variant,p.Cys1152=,ENST00000617789,NM_001258260.1,NM_001258258.1;UTY,synonymous_variant,p.Cys1145=,ENST00000382896,NM_001258264.1,NM_001258255.1,NM_001258268.1,NM_001258252.1;UTY,synonymous_variant,p.Cys1142=,ENST00000540140,NM_001258261.1;UTY,synonymous_variant,p.Cys1120=,ENST00000612274,NM_001258266.1;UTY,synonymous_variant,p.Cys1116=,ENST00000538878,NM_001258253.1,NM_001258251.1;UTY,synonymous_variant,p.Cys1100=,ENST00000331397,NM_001258250.1,NM_001258259.1,NM_001258257.1,NM_001258270.1,NM_007125.4,NM_001258267.1;UTY,synonymous_variant,p.Cys1145=,ENST00000537580,NM_001258263.1,NM_001258256.1;UTY,synonymous_variant,p.Cys1017=,ENST00000618474,NM_001258265.1;UTY,synonymous_variant,p.Cys1100=,ENST00000362096,NM_182659.1;UTY,synonymous_variant,p.Cys1021=,ENST00000624098,NM_001258254.1; A ENSG00000183878 ENST00000545955 Transcript synonymous_variant 4596/6817 3591/4335 1197/1444 C tgC/tgT COSV58871498 1 NA -1 UTY HGNC HGNC:12638 protein_coding YES CCDS76079.1 ENSP00000442047 F5H8B4.64 UPI00025909B7 NM_001258269.1,NM_001258262.1,NM_001258249.1 25/30 Gene3D:2.60.120.650,Pfam:PF02373,PROSITE_profiles:PS51184,PANTHER:PTHR14017,PANTHER:PTHR14017:SF25,SMART:SM00558,Superfamily:SSF48452,Superfamily:SSF51197 NA NA NA NA NA NA NA NA NA 1 NA NA NA NA LOW 1 SNV 1 NA 1 NA NA . AGC . 481.02 NA NA NA NA NA NA NA NA NA 13302966 UTY 7404 . GRCh38 chrY 13302972 13302972 + Silent SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3585C>T p.Asn1195= p.N1195= ENST00000545955 25/30 NA NA NA NA NA NA UTY,synonymous_variant,p.Asn1195=,ENST00000545955,NM_001258269.1,NM_001258262.1,NM_001258249.1;UTY,synonymous_variant,p.Asn1150=,ENST00000617789,NM_001258260.1,NM_001258258.1;UTY,synonymous_variant,p.Asn1143=,ENST00000382896,NM_001258264.1,NM_001258255.1,NM_001258268.1,NM_001258252.1;UTY,synonymous_variant,p.Asn1140=,ENST00000540140,NM_001258261.1;UTY,synonymous_variant,p.Asn1118=,ENST00000612274,NM_001258266.1;UTY,synonymous_variant,p.Asn1114=,ENST00000538878,NM_001258253.1,NM_001258251.1;UTY,synonymous_variant,p.Asn1098=,ENST00000331397,NM_001258250.1,NM_001258259.1,NM_001258257.1,NM_001258270.1,NM_007125.4,NM_001258267.1;UTY,synonymous_variant,p.Asn1143=,ENST00000537580,NM_001258263.1,NM_001258256.1;UTY,synonymous_variant,p.Asn1015=,ENST00000618474,NM_001258265.1;UTY,synonymous_variant,p.Asn1098=,ENST00000362096,NM_182659.1;UTY,synonymous_variant,p.Asn1019=,ENST00000624098,NM_001258254.1; A ENSG00000183878 ENST00000545955 Transcript synonymous_variant 4590/6817 3585/4335 1195/1444 N aaC/aaT 1 NA -1 UTY HGNC HGNC:12638 protein_coding YES CCDS76079.1 ENSP00000442047 F5H8B4.64 UPI00025909B7 NM_001258269.1,NM_001258262.1,NM_001258249.1 25/30 Gene3D:2.60.120.650,Pfam:PF02373,PROSITE_profiles:PS51184,PANTHER:PTHR14017,PANTHER:PTHR14017:SF25,SMART:SM00558,Superfamily:SSF48452,Superfamily:SSF51197 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . AGT . 481.02 NA NA NA NA NA NA NA NA NA 13302972 UTY 7404 . GRCh38 chrY 13324647 13324647 + Missense_Mutation SNP T T G rs888417065 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3024A>C p.Lys1008Asn p.K1008N ENST00000545955 20/30 NA NA NA NA NA NA UTY,missense_variant,p.Lys1008Asn,ENST00000545955,NM_001258269.1,NM_001258262.1,NM_001258249.1;UTY,missense_variant,p.Lys963Asn,ENST00000617789,NM_001258260.1,NM_001258258.1;UTY,missense_variant,p.Lys956Asn,ENST00000382896,NM_001258264.1,NM_001258255.1,NM_001258268.1,NM_001258252.1;UTY,missense_variant,p.Lys953Asn,ENST00000540140,NM_001258261.1;UTY,missense_variant,p.Lys956Asn,ENST00000612274,NM_001258266.1;UTY,missense_variant,p.Lys927Asn,ENST00000538878,NM_001258253.1,NM_001258251.1;UTY,missense_variant,p.Lys911Asn,ENST00000331397,NM_001258250.1,NM_001258259.1,NM_001258257.1,NM_001258270.1,NM_007125.4,NM_001258267.1;UTY,missense_variant,p.Lys956Asn,ENST00000537580,NM_001258263.1,NM_001258256.1;UTY,missense_variant,p.Lys828Asn,ENST00000618474,NM_001258265.1;UTY,missense_variant,p.Lys911Asn,ENST00000362096,NM_182659.1;UTY,missense_variant,p.Lys911Asn,ENST00000329134,NM_182660.1;UTY,missense_variant,p.Lys832Asn,ENST00000624098,NM_001258254.1; G ENSG00000183878 ENST00000545955 Transcript missense_variant 4029/6817 3024/4335 1008/1444 K/N aaA/aaC rs888417065 1 NA -1 UTY HGNC HGNC:12638 protein_coding YES CCDS76079.1 ENSP00000442047 F5H8B4.64 UPI00025909B7 NM_001258269.1,NM_001258262.1,NM_001258249.1 tolerated(0.47) benign(0.015) 20/30 Gene3D:2.60.120.650,PANTHER:PTHR14017,PANTHER:PTHR14017:SF25,Superfamily:SSF48452,Superfamily:SSF51197 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . TTT . 78.28 NA NA NA NA NA NA NA NA NA 13324647 UTY 7404 . GRCh38 chrY 13324653 13324653 + Silent SNP A A G novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3018T>C p.Asn1006= p.N1006= ENST00000545955 20/30 NA NA NA NA NA NA UTY,synonymous_variant,p.Asn1006=,ENST00000545955,NM_001258269.1,NM_001258262.1,NM_001258249.1;UTY,synonymous_variant,p.Asn961=,ENST00000617789,NM_001258260.1,NM_001258258.1;UTY,synonymous_variant,p.Asn954=,ENST00000382896,NM_001258264.1,NM_001258255.1,NM_001258268.1,NM_001258252.1;UTY,synonymous_variant,p.Asn951=,ENST00000540140,NM_001258261.1;UTY,synonymous_variant,p.Asn954=,ENST00000612274,NM_001258266.1;UTY,synonymous_variant,p.Asn925=,ENST00000538878,NM_001258253.1,NM_001258251.1;UTY,synonymous_variant,p.Asn909=,ENST00000331397,NM_001258250.1,NM_001258259.1,NM_001258257.1,NM_001258270.1,NM_007125.4,NM_001258267.1;UTY,synonymous_variant,p.Asn954=,ENST00000537580,NM_001258263.1,NM_001258256.1;UTY,synonymous_variant,p.Asn826=,ENST00000618474,NM_001258265.1;UTY,synonymous_variant,p.Asn909=,ENST00000362096,NM_182659.1;UTY,synonymous_variant,p.Asn909=,ENST00000329134,NM_182660.1;UTY,synonymous_variant,p.Asn830=,ENST00000624098,NM_001258254.1; G ENSG00000183878 ENST00000545955 Transcript synonymous_variant 4023/6817 3018/4335 1006/1444 N aaT/aaC 1 NA -1 UTY HGNC HGNC:12638 protein_coding YES CCDS76079.1 ENSP00000442047 F5H8B4.64 UPI00025909B7 NM_001258269.1,NM_001258262.1,NM_001258249.1 20/30 Gene3D:2.60.120.650,PANTHER:PTHR14017,PANTHER:PTHR14017:SF25,Superfamily:SSF48452,Superfamily:SSF51197 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . GAT . 78.28 NA NA NA NA NA NA NA NA NA 13324653 UTY 7404 . GRCh38 chrY 13359136 13359136 + Silent SNP G G T novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1272C>A p.Ile424= p.I424= ENST00000545955 13/30 NA NA NA NA NA NA UTY,synonymous_variant,p.Ile424=,ENST00000545955,NM_001258269.1,NM_001258262.1,NM_001258249.1;UTY,synonymous_variant,p.Ile424=,ENST00000382896,NM_001258264.1,NM_001258255.1,NM_001258268.1,NM_001258252.1;UTY,synonymous_variant,p.Ile391=,ENST00000540140,NM_001258261.1;UTY,synonymous_variant,p.Ile424=,ENST00000612274,NM_001258266.1;UTY,synonymous_variant,p.Ile424=,ENST00000537580,NM_001258263.1,NM_001258256.1;UTY,synonymous_variant,p.Ile424=,ENST00000624098,NM_001258254.1;UTY,intron_variant,,ENST00000329134,NM_182660.1;UTY,intron_variant,,ENST00000331397,NM_001258250.1,NM_001258259.1,NM_001258257.1,NM_001258270.1,NM_007125.4,NM_001258267.1;UTY,intron_variant,,ENST00000362096,NM_182659.1;UTY,intron_variant,,ENST00000538878,NM_001258253.1,NM_001258251.1;UTY,intron_variant,,ENST00000617789,NM_001258260.1,NM_001258258.1;UTY,intron_variant,,ENST00000618474,NM_001258265.1;UTY,downstream_gene_variant,,ENST00000478900,; T ENSG00000183878 ENST00000545955 Transcript synonymous_variant 2277/6817 1272/4335 424/1444 I atC/atA 1 NA -1 UTY HGNC HGNC:12638 protein_coding YES CCDS76079.1 ENSP00000442047 F5H8B4.64 UPI00025909B7 NM_001258269.1,NM_001258262.1,NM_001258249.1 13/30 Gene3D:1.25.40.10,PANTHER:PTHR14017,PANTHER:PTHR14017:SF25,Superfamily:SSF48452 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA NA . GGA . 179.6 NA NA NA NA NA NA NA NA NA 13359136 UTY 7404 . GRCh38 chrY 13359198 13359198 + Missense_Mutation SNP T T C novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1210A>G p.Ser404Gly p.S404G ENST00000545955 13/30 NA NA NA NA NA NA UTY,missense_variant,p.Ser404Gly,ENST00000545955,NM_001258269.1,NM_001258262.1,NM_001258249.1;UTY,missense_variant,p.Ser404Gly,ENST00000382896,NM_001258264.1,NM_001258255.1,NM_001258268.1,NM_001258252.1;UTY,missense_variant,p.Ser371Gly,ENST00000540140,NM_001258261.1;UTY,missense_variant,p.Ser404Gly,ENST00000612274,NM_001258266.1;UTY,missense_variant,p.Ser404Gly,ENST00000537580,NM_001258263.1,NM_001258256.1;UTY,missense_variant,p.Ser404Gly,ENST00000624098,NM_001258254.1;UTY,intron_variant,,ENST00000329134,NM_182660.1;UTY,intron_variant,,ENST00000331397,NM_001258250.1,NM_001258259.1,NM_001258257.1,NM_001258270.1,NM_007125.4,NM_001258267.1;UTY,intron_variant,,ENST00000362096,NM_182659.1;UTY,intron_variant,,ENST00000538878,NM_001258253.1,NM_001258251.1;UTY,intron_variant,,ENST00000617789,NM_001258260.1,NM_001258258.1;UTY,intron_variant,,ENST00000618474,NM_001258265.1;UTY,downstream_gene_variant,,ENST00000478900,; C ENSG00000183878 ENST00000545955 Transcript missense_variant 2215/6817 1210/4335 404/1444 S/G Agt/Ggt 1 NA -1 UTY HGNC HGNC:12638 protein_coding YES CCDS76079.1 ENSP00000442047 F5H8B4.64 UPI00025909B7 NM_001258269.1,NM_001258262.1,NM_001258249.1 tolerated(1) benign(0) 13/30 Gene3D:1.25.40.10,PANTHER:PTHR14017,PANTHER:PTHR14017:SF25,Superfamily:SSF48452 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA NA . CTT . 109.6 NA NA NA NA NA NA NA NA NA 13359198 NLGN4Y 22829 . GRCh38 chrY 14840455 14840455 + Silent SNP T T C rs753595702 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1815T>C p.His605= p.H605= ENST00000382868 8/8 NA NA NA NA NA NA NLGN4Y,synonymous_variant,p.His568=,ENST00000643089,NM_001365586.1,NM_001365584.1,NM_001365588.1;NLGN4Y,synonymous_variant,p.His380=,ENST00000382872,NM_001206850.2;NLGN4Y,synonymous_variant,p.His605=,ENST00000382868,;NLGN4Y,synonymous_variant,p.His548=,ENST00000339174,NM_001365591.1,NM_001365590.1,NM_001365592.1,NM_001365593.1;NLGN4Y,synonymous_variant,p.His548=,ENST00000355905,NM_014893.4;NLGN4Y,non_coding_transcript_exon_variant,,ENST00000476359,; C ENSG00000165246 ENST00000382868 Transcript synonymous_variant 2067/5338 1815/2622 605/873 H caT/caC rs753595702,COSV59294382 1 NA 1 NLGN4Y HGNC HGNC:15529 protein_coding YES ENSP00000372320 A6NMU8.105 UPI00001B2209 8/8 Pfam:PF00135,Prints:PR01090,PANTHER:PTHR43903,PANTHER:PTHR43903:SF5,Superfamily:SSF53474 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA LOW 1 SNV 1 NA 0,1 NA NA . ATA . 831.03 NA NA NA NA NA NA NA NA NA 14840455 NLGN4Y 22829 . GRCh38 chrY 14840467 14840467 + Silent SNP T T C rs764411802 NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1827T>C p.Asn609= p.N609= ENST00000382868 8/8 NA NA NA NA NA NA NLGN4Y,synonymous_variant,p.Asn572=,ENST00000643089,NM_001365586.1,NM_001365584.1,NM_001365588.1;NLGN4Y,synonymous_variant,p.Asn384=,ENST00000382872,NM_001206850.2;NLGN4Y,synonymous_variant,p.Asn609=,ENST00000382868,;NLGN4Y,synonymous_variant,p.Asn552=,ENST00000339174,NM_001365591.1,NM_001365590.1,NM_001365592.1,NM_001365593.1;NLGN4Y,synonymous_variant,p.Asn552=,ENST00000355905,NM_014893.4;NLGN4Y,non_coding_transcript_exon_variant,,ENST00000476359,; C ENSG00000165246 ENST00000382868 Transcript synonymous_variant 2079/5338 1827/2622 609/873 N aaT/aaC rs764411802,COSV59294402 1 NA 1 NLGN4Y HGNC HGNC:15529 protein_coding YES ENSP00000372320 A6NMU8.105 UPI00001B2209 8/8 Pfam:PF00135,Prints:PR01090,PANTHER:PTHR43903,PANTHER:PTHR43903:SF5,Superfamily:SSF53474 NA NA NA NA NA NA NA NA NA 0,1 NA NA NA NA LOW 1 SNV 1 NA 0,1 NA NA . ATC . 1694.03 NA NA NA NA NA NA NA NA NA 14840467 NLGN4Y 22829 . GRCh38 chrY 14840785 14840785 + Silent SNP C C T rs767683335 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2145C>T p.Pro715= p.P715= ENST00000382868 8/8 NA NA NA NA NA NA NLGN4Y,synonymous_variant,p.Pro678=,ENST00000643089,NM_001365586.1,NM_001365584.1,NM_001365588.1;NLGN4Y,synonymous_variant,p.Pro490=,ENST00000382872,NM_001206850.2;NLGN4Y,synonymous_variant,p.Pro715=,ENST00000382868,;NLGN4Y,synonymous_variant,p.Pro658=,ENST00000339174,NM_001365591.1,NM_001365590.1,NM_001365592.1,NM_001365593.1;NLGN4Y,synonymous_variant,p.Pro658=,ENST00000355905,NM_014893.4;NLGN4Y,non_coding_transcript_exon_variant,,ENST00000476359,; T ENSG00000165246 ENST00000382868 Transcript synonymous_variant 2397/5338 2145/2622 715/873 P ccC/ccT rs767683335,COSV59296056 1 NA 1 NLGN4Y HGNC HGNC:15529 protein_coding YES ENSP00000372320 A6NMU8.105 UPI00001B2209 8/8 PANTHER:PTHR43903,PANTHER:PTHR43903:SF5 NA NA NA NA NA NA NA NA NA likely_benign 0,1 NA NA NA NA LOW 1 SNV 1 NA 1,1 NA NA . CCG . 4214.03 3.139e-05 NA 0.0001447 NA NA NA 3.341e-05 NA NA 14840785 KDM5D 8284 . GRCh38 chrY 19708905 19708905 + Silent SNP T T C novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3144A>G p.Gln1048= p.Q1048= ENST00000541639 22/28 NA NA NA NA NA NA KDM5D,synonymous_variant,p.Gln1017=,ENST00000317961,NM_004653.5;KDM5D,synonymous_variant,p.Gln1048=,ENST00000541639,NM_001146705.1;KDM5D,synonymous_variant,p.Gln960=,ENST00000382806,NM_001146706.2;KDM5D,synonymous_variant,p.Gln976=,ENST00000440077,;KDM5D,synonymous_variant,p.Gln15=,ENST00000415360,;KDM5D,non_coding_transcript_exon_variant,,ENST00000469599,;KDM5D,non_coding_transcript_exon_variant,,ENST00000492117,;KDM5D,downstream_gene_variant,,ENST00000485154,; C ENSG00000012817 ENST00000541639 Transcript synonymous_variant 3432/5579 3144/4713 1048/1570 Q caA/caG 1 NA -1 KDM5D HGNC HGNC:11115 protein_coding YES CCDS55555.1 ENSP00000444293 Q9BY66.177 UPI000189A8A0 NM_001146705.1 22/28 Pfam:PF08429,PANTHER:PTHR10694,PANTHER:PTHR10694:SF84 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . CTT . 30.44 NA NA NA NA NA NA NA NA NA 19708905 KDM5D 8284 . GRCh38 chrY 19708926 19708926 + Silent SNP T T C novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3123A>G p.Lys1041= p.K1041= ENST00000541639 22/28 NA NA NA NA NA NA KDM5D,synonymous_variant,p.Lys1010=,ENST00000317961,NM_004653.5;KDM5D,synonymous_variant,p.Lys1041=,ENST00000541639,NM_001146705.1;KDM5D,synonymous_variant,p.Lys953=,ENST00000382806,NM_001146706.2;KDM5D,synonymous_variant,p.Lys969=,ENST00000440077,;KDM5D,synonymous_variant,p.Lys8=,ENST00000415360,;KDM5D,non_coding_transcript_exon_variant,,ENST00000469599,;KDM5D,non_coding_transcript_exon_variant,,ENST00000492117,;KDM5D,downstream_gene_variant,,ENST00000485154,; C ENSG00000012817 ENST00000541639 Transcript synonymous_variant 3411/5579 3123/4713 1041/1570 K aaA/aaG 1 NA -1 KDM5D HGNC HGNC:11115 protein_coding YES CCDS55555.1 ENSP00000444293 Q9BY66.177 UPI000189A8A0 NM_001146705.1 22/28 Pfam:PF08429,PANTHER:PTHR10694,PANTHER:PTHR10694:SF84 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . CTT . 35.44 NA NA NA NA NA NA NA NA NA 19708926 KDM5D 8284 . GRCh38 chrY 19708929 19708929 + Silent SNP G G C novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3120C>G p.Leu1040= p.L1040= ENST00000541639 22/28 NA NA NA NA NA NA KDM5D,synonymous_variant,p.Leu1009=,ENST00000317961,NM_004653.5;KDM5D,synonymous_variant,p.Leu1040=,ENST00000541639,NM_001146705.1;KDM5D,synonymous_variant,p.Leu952=,ENST00000382806,NM_001146706.2;KDM5D,synonymous_variant,p.Leu968=,ENST00000440077,;KDM5D,synonymous_variant,p.Leu7=,ENST00000415360,;KDM5D,non_coding_transcript_exon_variant,,ENST00000469599,;KDM5D,non_coding_transcript_exon_variant,,ENST00000492117,;KDM5D,downstream_gene_variant,,ENST00000485154,; C ENSG00000012817 ENST00000541639 Transcript synonymous_variant 3408/5579 3120/4713 1040/1570 L ctC/ctG 1 NA -1 KDM5D HGNC HGNC:11115 protein_coding YES CCDS55555.1 ENSP00000444293 Q9BY66.177 UPI000189A8A0 NM_001146705.1 22/28 Pfam:PF08429,PANTHER:PTHR10694,PANTHER:PTHR10694:SF84 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . TGA . 35.44 NA NA NA NA NA NA NA NA NA 19708929 KDM5D 8284 . GRCh38 chrY 19708934 19708934 + Missense_Mutation SNP C C A novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3115G>T p.Ala1039Ser p.A1039S ENST00000541639 22/28 NA NA NA NA NA NA KDM5D,missense_variant,p.Ala1008Ser,ENST00000317961,NM_004653.5;KDM5D,missense_variant,p.Ala1039Ser,ENST00000541639,NM_001146705.1;KDM5D,missense_variant,p.Ala951Ser,ENST00000382806,NM_001146706.2;KDM5D,missense_variant,p.Ala967Ser,ENST00000440077,;KDM5D,missense_variant,p.Ala6Ser,ENST00000415360,;KDM5D,non_coding_transcript_exon_variant,,ENST00000469599,;KDM5D,non_coding_transcript_exon_variant,,ENST00000492117,;KDM5D,downstream_gene_variant,,ENST00000485154,; A ENSG00000012817 ENST00000541639 Transcript missense_variant 3403/5579 3115/4713 1039/1570 A/S Gct/Tct 1 NA -1 KDM5D HGNC HGNC:11115 protein_coding YES CCDS55555.1 ENSP00000444293 Q9BY66.177 UPI000189A8A0 NM_001146705.1 tolerated(0.25) benign(0.086) 22/28 Pfam:PF08429,PANTHER:PTHR10694,PANTHER:PTHR10694:SF84 NA NA NA NA NA NA NA NA NA NA NA NA NA MODERATE 1 SNV 1 NA NA 1 . GCC . 35.44 NA NA NA NA NA NA NA NA NA 19708934 KDM5D 8284 . GRCh38 chrY 19715870 19715870 + Silent SNP G G A NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2259C>T p.Ser753= p.S753= ENST00000541639 17/28 NA NA NA NA NA NA KDM5D,synonymous_variant,p.Ser722=,ENST00000317961,NM_004653.5;KDM5D,synonymous_variant,p.Ser753=,ENST00000541639,NM_001146705.1;KDM5D,synonymous_variant,p.Ser665=,ENST00000382806,NM_001146706.2;KDM5D,synonymous_variant,p.Ser681=,ENST00000440077,;KDM5D,non_coding_transcript_exon_variant,,ENST00000469599,;KDM5D,non_coding_transcript_exon_variant,,ENST00000492117,;KDM5D,non_coding_transcript_exon_variant,,ENST00000478891,; A ENSG00000012817 ENST00000541639 Transcript synonymous_variant 2547/5579 2259/4713 753/1570 S tcC/tcT COSV100522230,COSV58737299 1 NA -1 KDM5D HGNC HGNC:11115 protein_coding YES CCDS55555.1 ENSP00000444293 Q9BY66.177 UPI000189A8A0 NM_001146705.1 17/28 Pfam:PF02928,PANTHER:PTHR10694,PANTHER:PTHR10694:SF84 NA NA NA NA NA NA NA NA NA 1,1 NA NA NA NA LOW 1 SNV 1 NA 1,1 NA 1 . GGG . 35.44 NA NA NA NA NA NA NA NA NA 19715870 KDM5D 8284 . GRCh38 chrY 19715879 19715879 + Silent SNP T T G novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2250A>C p.Val750= p.V750= ENST00000541639 17/28 NA NA NA NA NA NA KDM5D,synonymous_variant,p.Val719=,ENST00000317961,NM_004653.5;KDM5D,synonymous_variant,p.Val750=,ENST00000541639,NM_001146705.1;KDM5D,synonymous_variant,p.Val662=,ENST00000382806,NM_001146706.2;KDM5D,synonymous_variant,p.Val678=,ENST00000440077,;KDM5D,non_coding_transcript_exon_variant,,ENST00000469599,;KDM5D,non_coding_transcript_exon_variant,,ENST00000492117,;KDM5D,non_coding_transcript_exon_variant,,ENST00000478891,; G ENSG00000012817 ENST00000541639 Transcript synonymous_variant 2538/5579 2250/4713 750/1570 V gtA/gtC 1 NA -1 KDM5D HGNC HGNC:11115 protein_coding YES CCDS55555.1 ENSP00000444293 Q9BY66.177 UPI000189A8A0 NM_001146705.1 17/28 Pfam:PF02928,PANTHER:PTHR10694,PANTHER:PTHR10694:SF84 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . ATA . 35.44 NA NA NA NA NA NA NA NA NA 19715879 KDM5D 8284 . GRCh38 chrY 19715900 19715900 + Silent SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2229C>T p.Tyr743= p.Y743= ENST00000541639 17/28 NA NA NA NA NA NA KDM5D,synonymous_variant,p.Tyr712=,ENST00000317961,NM_004653.5;KDM5D,synonymous_variant,p.Tyr743=,ENST00000541639,NM_001146705.1;KDM5D,synonymous_variant,p.Tyr655=,ENST00000382806,NM_001146706.2;KDM5D,synonymous_variant,p.Tyr671=,ENST00000440077,;KDM5D,non_coding_transcript_exon_variant,,ENST00000469599,;KDM5D,non_coding_transcript_exon_variant,,ENST00000492117,;KDM5D,non_coding_transcript_exon_variant,,ENST00000478891,; A ENSG00000012817 ENST00000541639 Transcript synonymous_variant 2517/5579 2229/4713 743/1570 Y taC/taT 1 NA -1 KDM5D HGNC HGNC:11115 protein_coding YES CCDS55555.1 ENSP00000444293 Q9BY66.177 UPI000189A8A0 NM_001146705.1 17/28 Pfam:PF02928,PANTHER:PTHR10694,PANTHER:PTHR10694:SF84 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . CGT . 35.44 NA NA NA NA NA NA NA NA NA 19715900 KDM5D 8284 . GRCh38 chrY 19715906 19715906 + Silent SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2223C>T p.Ala741= p.A741= ENST00000541639 17/28 NA NA NA NA NA NA KDM5D,synonymous_variant,p.Ala710=,ENST00000317961,NM_004653.5;KDM5D,synonymous_variant,p.Ala741=,ENST00000541639,NM_001146705.1;KDM5D,synonymous_variant,p.Ala653=,ENST00000382806,NM_001146706.2;KDM5D,synonymous_variant,p.Ala669=,ENST00000440077,;KDM5D,non_coding_transcript_exon_variant,,ENST00000469599,;KDM5D,non_coding_transcript_exon_variant,,ENST00000492117,;KDM5D,non_coding_transcript_exon_variant,,ENST00000478891,; A ENSG00000012817 ENST00000541639 Transcript synonymous_variant 2511/5579 2223/4713 741/1570 A gcC/gcT 1 NA -1 KDM5D HGNC HGNC:11115 protein_coding YES CCDS55555.1 ENSP00000444293 Q9BY66.177 UPI000189A8A0 NM_001146705.1 17/28 Pfam:PF02928,PANTHER:PTHR10694,PANTHER:PTHR10694:SF84 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . AGG . 35.44 NA NA NA NA NA NA NA NA NA 19715906 KDM5D 8284 . GRCh38 chrY 19715915 19715915 + Silent SNP T T A novel NA HCI-EC-23 NORMAL T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2214A>T p.Ser738= p.S738= ENST00000541639 17/28 NA NA NA NA NA NA KDM5D,synonymous_variant,p.Ser707=,ENST00000317961,NM_004653.5;KDM5D,synonymous_variant,p.Ser738=,ENST00000541639,NM_001146705.1;KDM5D,synonymous_variant,p.Ser650=,ENST00000382806,NM_001146706.2;KDM5D,synonymous_variant,p.Ser666=,ENST00000440077,;KDM5D,non_coding_transcript_exon_variant,,ENST00000469599,;KDM5D,non_coding_transcript_exon_variant,,ENST00000492117,;KDM5D,non_coding_transcript_exon_variant,,ENST00000478891,; A ENSG00000012817 ENST00000541639 Transcript synonymous_variant 2502/5579 2214/4713 738/1570 S tcA/tcT 1 NA -1 KDM5D HGNC HGNC:11115 protein_coding YES CCDS55555.1 ENSP00000444293 Q9BY66.177 UPI000189A8A0 NM_001146705.1 17/28 Pfam:PF02928,PANTHER:PTHR10694,PANTHER:PTHR10694:SF84 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . CTG . 35.44 NA NA NA NA NA NA NA NA NA 19715915 KDM5D 8284 . GRCh38 chrY 19715918 19715918 + Silent SNP C C T novel NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2211G>A p.Leu737= p.L737= ENST00000541639 17/28 NA NA NA NA NA NA KDM5D,synonymous_variant,p.Leu706=,ENST00000317961,NM_004653.5;KDM5D,synonymous_variant,p.Leu737=,ENST00000541639,NM_001146705.1;KDM5D,synonymous_variant,p.Leu649=,ENST00000382806,NM_001146706.2;KDM5D,synonymous_variant,p.Leu665=,ENST00000440077,;KDM5D,non_coding_transcript_exon_variant,,ENST00000469599,;KDM5D,non_coding_transcript_exon_variant,,ENST00000492117,;KDM5D,non_coding_transcript_exon_variant,,ENST00000478891,; T ENSG00000012817 ENST00000541639 Transcript synonymous_variant 2499/5579 2211/4713 737/1570 L ttG/ttA 1 NA -1 KDM5D HGNC HGNC:11115 protein_coding YES CCDS55555.1 ENSP00000444293 Q9BY66.177 UPI000189A8A0 NM_001146705.1 17/28 Pfam:PF02928,PANTHER:PTHR10694,PANTHER:PTHR10694:SF84 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . ACA . 78.28 NA NA NA NA NA NA NA NA NA 19715918 KDM5D 8284 . GRCh38 chrY 19715920 19715920 + Silent SNP A A G novel NA HCI-EC-23 NORMAL A A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2209T>C p.Leu737= p.L737= ENST00000541639 17/28 NA NA NA NA NA NA KDM5D,synonymous_variant,p.Leu706=,ENST00000317961,NM_004653.5;KDM5D,synonymous_variant,p.Leu737=,ENST00000541639,NM_001146705.1;KDM5D,synonymous_variant,p.Leu649=,ENST00000382806,NM_001146706.2;KDM5D,synonymous_variant,p.Leu665=,ENST00000440077,;KDM5D,non_coding_transcript_exon_variant,,ENST00000469599,;KDM5D,non_coding_transcript_exon_variant,,ENST00000492117,;KDM5D,non_coding_transcript_exon_variant,,ENST00000478891,; G ENSG00000012817 ENST00000541639 Transcript synonymous_variant 2497/5579 2209/4713 737/1570 L Ttg/Ctg 1 NA -1 KDM5D HGNC HGNC:11115 protein_coding YES CCDS55555.1 ENSP00000444293 Q9BY66.177 UPI000189A8A0 NM_001146705.1 17/28 Pfam:PF02928,PANTHER:PTHR10694,PANTHER:PTHR10694:SF84 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . AAG . 78.28 NA NA NA NA NA NA NA NA NA 19715920 KDM5D 8284 . GRCh38 chrY 19715924 19715924 + Silent SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2205C>T p.Cys735= p.C735= ENST00000541639 17/28 NA NA NA NA NA NA KDM5D,synonymous_variant,p.Cys704=,ENST00000317961,NM_004653.5;KDM5D,synonymous_variant,p.Cys735=,ENST00000541639,NM_001146705.1;KDM5D,synonymous_variant,p.Cys647=,ENST00000382806,NM_001146706.2;KDM5D,synonymous_variant,p.Cys663=,ENST00000440077,;KDM5D,non_coding_transcript_exon_variant,,ENST00000469599,;KDM5D,non_coding_transcript_exon_variant,,ENST00000492117,;KDM5D,non_coding_transcript_exon_variant,,ENST00000478891,; A ENSG00000012817 ENST00000541639 Transcript synonymous_variant 2493/5579 2205/4713 735/1570 C tgC/tgT 1 NA -1 KDM5D HGNC HGNC:11115 protein_coding YES CCDS55555.1 ENSP00000444293 Q9BY66.177 UPI000189A8A0 NM_001146705.1 17/28 Pfam:PF02928,PANTHER:PTHR10694,PANTHER:PTHR10694:SF84 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . AGC . 78.28 NA NA NA NA NA NA NA NA NA 19715924 KDM5D 8284 . GRCh38 chrY 19715927 19715927 + Silent SNP C C T rs1429902112 NA HCI-EC-23 NORMAL C C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2202G>A p.Thr734= p.T734= ENST00000541639 17/28 NA NA NA NA NA NA KDM5D,synonymous_variant,p.Thr703=,ENST00000317961,NM_004653.5;KDM5D,synonymous_variant,p.Thr734=,ENST00000541639,NM_001146705.1;KDM5D,synonymous_variant,p.Thr646=,ENST00000382806,NM_001146706.2;KDM5D,synonymous_variant,p.Thr662=,ENST00000440077,;KDM5D,non_coding_transcript_exon_variant,,ENST00000469599,;KDM5D,non_coding_transcript_exon_variant,,ENST00000492117,;KDM5D,non_coding_transcript_exon_variant,,ENST00000478891,; T ENSG00000012817 ENST00000541639 Transcript synonymous_variant 2490/5579 2202/4713 734/1570 T acG/acA rs1429902112 1 NA -1 KDM5D HGNC HGNC:11115 protein_coding YES CCDS55555.1 ENSP00000444293 Q9BY66.177 UPI000189A8A0 NM_001146705.1 17/28 Pfam:PF02928,PANTHER:PTHR10694,PANTHER:PTHR10694:SF84 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . ACG . 78.28 1.474e-05 0.0003235 NA NA NA NA NA NA NA 19715927 KDM5D 8284 . GRCh38 chrY 19715942 19715942 + Silent SNP G G T novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2187C>A p.Ile729= p.I729= ENST00000541639 17/28 NA NA NA NA NA NA KDM5D,synonymous_variant,p.Ile698=,ENST00000317961,NM_004653.5;KDM5D,synonymous_variant,p.Ile729=,ENST00000541639,NM_001146705.1;KDM5D,synonymous_variant,p.Ile641=,ENST00000382806,NM_001146706.2;KDM5D,synonymous_variant,p.Ile657=,ENST00000440077,;KDM5D,non_coding_transcript_exon_variant,,ENST00000469599,;KDM5D,non_coding_transcript_exon_variant,,ENST00000492117,;KDM5D,non_coding_transcript_exon_variant,,ENST00000478891,; T ENSG00000012817 ENST00000541639 Transcript synonymous_variant 2475/5579 2187/4713 729/1570 I atC/atA 1 NA -1 KDM5D HGNC HGNC:11115 protein_coding YES CCDS55555.1 ENSP00000444293 Q9BY66.177 UPI000189A8A0 NM_001146705.1 17/28 Pfam:PF02928,PANTHER:PTHR10694,PANTHER:PTHR10694:SF84 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . TGA . 78.28 NA NA NA NA NA NA NA NA NA 19715942 KDM5D 8284 . GRCh38 chrY 19715951 19715951 + Silent SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2178C>T p.Arg726= p.R726= ENST00000541639 17/28 NA NA NA NA NA NA KDM5D,synonymous_variant,p.Arg695=,ENST00000317961,NM_004653.5;KDM5D,synonymous_variant,p.Arg726=,ENST00000541639,NM_001146705.1;KDM5D,synonymous_variant,p.Arg638=,ENST00000382806,NM_001146706.2;KDM5D,synonymous_variant,p.Arg654=,ENST00000440077,;KDM5D,non_coding_transcript_exon_variant,,ENST00000469599,;KDM5D,non_coding_transcript_exon_variant,,ENST00000492117,;KDM5D,non_coding_transcript_exon_variant,,ENST00000478891,; A ENSG00000012817 ENST00000541639 Transcript synonymous_variant 2466/5579 2178/4713 726/1570 R cgC/cgT 1 NA -1 KDM5D HGNC HGNC:11115 protein_coding YES CCDS55555.1 ENSP00000444293 Q9BY66.177 UPI000189A8A0 NM_001146705.1 17/28 PANTHER:PTHR10694,PANTHER:PTHR10694:SF84 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . GGC . 78.28 NA NA NA NA NA NA NA NA NA 19715951 KDM5D 8284 . GRCh38 chrY 19715966 19715966 + Silent SNP G G A novel NA HCI-EC-23 NORMAL G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.2163C>T p.Leu721= p.L721= ENST00000541639 17/28 NA NA NA NA NA NA KDM5D,synonymous_variant,p.Leu690=,ENST00000317961,NM_004653.5;KDM5D,synonymous_variant,p.Leu721=,ENST00000541639,NM_001146705.1;KDM5D,synonymous_variant,p.Leu633=,ENST00000382806,NM_001146706.2;KDM5D,synonymous_variant,p.Leu649=,ENST00000440077,;KDM5D,non_coding_transcript_exon_variant,,ENST00000469599,;KDM5D,non_coding_transcript_exon_variant,,ENST00000492117,;KDM5D,non_coding_transcript_exon_variant,,ENST00000478891,; A ENSG00000012817 ENST00000541639 Transcript synonymous_variant 2451/5579 2163/4713 721/1570 L ctC/ctT 1 NA -1 KDM5D HGNC HGNC:11115 protein_coding YES CCDS55555.1 ENSP00000444293 Q9BY66.177 UPI000189A8A0 NM_001146705.1 17/28 PANTHER:PTHR10694,PANTHER:PTHR10694:SF84 NA NA NA NA NA NA NA NA NA NA NA NA NA LOW 1 SNV 1 NA NA 1 . GGA . 58.28 NA NA NA NA NA NA NA NA NA 19715966